The Cystic Fibrosis Gene

Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common lethal genetic disorder in Caucasians, affecting one out of 2,500. On the bioethical front, CF was the first human genetic disease to be cloned by geneticists. The intent of this paper is to describe how the cystic fibrosis gene was identified, how the gene is defective, its physical manifestations, and to discuss possible treatments of the disease.

The classical approach to finding the gene that is responsible for causing a genetic disease is to first characterize the bio-chemical defect within the gene, then to identify the mutated protein in the gene, and finally to locate the actual gene. However, this classical approach proves to be impractical when searching for the CF gene. To find the gene responsible for CF, the principle of “reverse genetics” is applied. Scientists accomplish this by linking the disease to a specific chromosome. After this linkage, they isolate the gene of interest on the chromosome, and then test its product.

Before the disease can be linked to a specific chromosome, however, a marker needs to be found that will always travel with the disease. This marker is known as a Restriction Fragment Length Polymorphism, or RFLP for short. RFLP’s are varying base sequences of DNA in different individuals which are known to travel with genetic disorders. The RFLP for cystic fibrosis was first discovered through somatic cell hybridization (cell fusing) and southern blot electrophoresis (gel separation of DNA within an electric field). By using these techniques, three RFLP’s were discovered for CF: Doc RI, J3. 11, and Met.

Utilizing hybridization (rapid heating and cooling of RNA with denatured DNA so that the RNA permanently associates with the DNA,) scientists discovered the CF gene to be located on the long arm of chromosome 7q. Soon after identifying these markers, another marker was discovered that frequented more often with CF than the did the other markers. This meant the new RFLP was closer to the CF gene. At that time, two scientists named Lap-Chu Tsui and Francis Collins were able to isolate probes (radioactively marked DNA/RNA sequences used to detect the presence of a complimentary sequence by hybridization) from the gene interval.

In order to determine the exact location of the CF gene, probes were taken from the nucleotide sequence obtained from chromosome jumping. To find these probes, horse, cow, chicken, and mouse DNA was separated using Southern Blot electrophoresis. Two probes were found to bind to all of the vertebrates DNA. This meant that the base pairs within the probes contained related information, possibly even the gene. The Northern Blot electrophoresis technique was then used to distinguish between the two probes still remaining in order tofind out which one actually contained the CF gene.

This was successful because Northern Blot electrophoresis tests RNA, not DNA. The RNA of cell types affected with CF, along with the RNA of unaffected cell types were placed on a gel. Probe number two bound to the RNA of affected cell types in the pancreas, colon, and nose (all CF-affected cells,) but did not bind to the RNA from non-affected cell types like those of the brain and heart. Probe number one did not bind exclusively to cell types from CF affected areas like number two did.

From this evidence, these scientists determined that probe number two contained the CF gene. While isolating the CF gene and screening the genetic library made from mRNA (cDNA library – the gene sequence cloned by mRNA and reverse transcriptase), it was discovered that probe number two did not hybridize. The chances for hybridization were suspected to have been decreased either because of low levels of the CF gene present within the probe, or because the cDNA used was not made from the correct cell type affected with CF.

The solution to this lack of hybridization was to produce a cDNA library made exclusively from CF affected cells. This new library was isolated from cells in sweat glands (CF patients commonly have elevated levels of sodium and chloride ions in their sweat. ) By using this new cDNA library, probe number two was found to hybridize excessively. They theorized that this success was due to the large amount of the CF gene present in the sweat glands, or the gene itself could have been involved in a large protein family.

Nevertheless, the binding of the probe proved the CF gene was present in the specific sequence of nucleotide bases being analyzed. The isolated gene was proven to be responsible for causing CF by comparing its base pair sequence to the same sequences base pair in a non-affected cell. The entire CF cDNA sequence is approximately 6,000 nucleotides long. In those 6,000, three base pairs were found to be missing in affected cells, all three were in exon (coding sequence) #10. This absence effects the loss of a phenylalanine residue and accounts for seventy percent of the CF mutations.

In addition to this three base pair deletion pattern, up to 200 different mutations have since been discovered in the gene accounting for CF, all to varying degrees. Treatment for CF varies greatly from case to case, but is usually substantial enough to double a patients lifespan (most untreated cases die by age thirteen. ) One method is to provide missing chemicals to the epithelial cells (inner nose, throat, and lung surface), such as adenosine 3′,5′-monophosphate (cAMP), or the nucleotide triphosphates ATP or UTP.

This has been proven to raise the rate of Cl- secretion (in CFTRs) by removing a layer of fluid common to CF patients from the respiratory tract. Chloride conductance channels have dramatic transfer potentials. Specifically, one channel can conduct from 1,000,000 to 100,000,000 ions per second. This is particularly impressive when considering the fact that there are not many channels present on cells to perform these tasks. As a result of this, a mutation of one channel or even a partial mutation of a channel, that causes a decrease in the percentage of channel openings, can exert a major effect.

Accordingly, even the mildest of treatments altering the cystic fibrosis Transmembrane Conductance Regulator in CF afflicted people can lead to significant improvements in an individuals health. The most fascinating treatment that has been attempted is to administer solutions of genetically engineered cold viruses, in aerosol form, into the nasal passages and lungs of those infected with CF. This is done in hopes that the virus will transport corrected copies of the mutated gene into the affected person’s airways so it can replace the mutated nucleotides.

This known as gene therapy. A drastically different approach taken in an attempt to cure cystic fibrosis, performed as a method of preventive medicine, involves correcting the disease while the affected “person” is still an embryo. Test tube fertilization from affected parents and gene diagnosis during embryonic development can be accomplished through a biopsy of a cleavage-stage embryo and amplification of DNA from single embryonic cells. After this treatment, only unaffected embryos would be selected for implantation into the uterus.

Unfortunately however, affected embryos would be discarded. These treatments are all remarkable breakthroughs in medical science and provide geneticists with a highly positive outlook, but they are nowhere near the miracles yet to come with more research. Since cystic fibrosis is the most common lethal genetic disorder among Caucasians, intense research efforts towards better treatments and its cure are invaluable. The discoveries made from researching this disease may very well help the treatment or cure of other, unrelated diseases.

Gonorrhea – infectious sexually transmitted disease

Gonorrhea is an infectious sexually transmitted disease. This disease involves the mucous membranes of the urogenital tract. Gonorrhea is much more obvious in males because they develop an acute discharge of pus from the urethra. Scarce when it starts, it becomes thicker and heavier and causes frequent urination. When urination takes place, there will be a burning sensation. If the prostate becomes infected, the passage of urine is partly obstructed. In females the infection occurs in the urethra, the vagina, or the cervix.

Although discharge and irritation of the vaginal mucous membranes may be severe. Nearly few or no early symptoms will appear. Gonorrhea is diagnosed by staining a smear of the discharge to expose the bacteria. Treatment in the early stages is usually effective. If the disease is untreated in the male, the early symptoms may subside, but the infection may spread to the testicles causing sterility. In the untreated female the infection usually spreads from the cervix into the uterus and fallopian tubes, causing pelvic inflammatory disease.

Severe pain may occur, or the infection may stay behind with few or no symptoms. While doing this, it will be gradually damaging the tubes and leaving the woman sterile. In both sexes the gonococcus may enter the bloodstream, resulting in arthritis, heart inflammation, or other diseases. Gonorrhea in pregnant women may be transmitted to the infant during birth and may, if untreated, cause a serious eye infection. Penicillin is commonly used against gonorrhea, although over the years an increasing number of penicillin resistant strains have been found.

Other effective antibiotics are tetracycline, spectinomycin, and the newer ones called cephalosporins. One antibiotic called ceftriaxone can cure uncomplicated gonorrhea, including infections resistant to penicillin, with a single injection. Gonorrhea increased greatly in the U. S. almost reaching epidemic proportions in adolescents and young adults. In most large cities clinics have been established where young people can get treatment. One of the most difficult tasks in controlling gonorrhea is locating all recent sexual contacts of an infected person in order to prevent further spread of the disease.

The Cystic Fibrosis Gene

Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common genetic disorder amongst Caucasians. Cystic fibrosis affects about one in 2,500 people, with one in twenty five being a heterozygote. With the use of antibiotics, the life span of a person afflicted with CF can be extended up to thirty years however, most die before the age of thirteen. 1 Since so many people are affected by this disease, it’s no wonder that CF was the first human genetic disease to be cloned by geneticists.

In this paper, I will be focusing on how the cystic fibrosis gene was discovered while at the same time, discussing the protein defect in the CF gene, the bio-chemical defect associated with CF, and possible treatments of the disease. Finding the Cystic Fibrosis Gene: The classical genetic approach to finding the gene that is responsible for causing a genetic disease has been to first characterize the bio-chemical defect within the gene, then to identify the mutated protein in the gene of interest, and finally to locate the actual gene. However, this classical approach proved to be impractical when searching for the CF ene.

To find the gene responsible for CF, the principle of “reverse genetics” was applied. Scientists accomplished this by linking the disease to a specific chromosome. After this linkage, they isolated the gene of interest on the chromosome and then tested its product. 2 Before the disease could be linked to a specific chromosome, a marker needed to be found that would always travel with the disease. This marker is known as a Restriction Fragment Length Polymorphism or RFLP for short. RFLP’s are varying base sequences of DNA in different individuals which are known to travel with genetic disorders.

The RFLP for cystic fibrosis was discovered through the techniques of Somatic Cell Hybridization and through Southern Blot Electrophoresis (gel separation of DNA). By using these techniques, three RFLP’s were discovered for CF; Doc RI, J3. 11, and Met. Utilizing in situ hybridization, scientists discovered the CF gene to be located on the long arm of chromosome number seven. Soon after identifying these markers, another marker was discovered that segregated more frequently with CF than the other markers. This meant the new marker was closer to the CF gene.

At this time, two scientists named Lap-Chu Tsui nd Francis Collins were able to isolate probes from the CF interval. They were now able to utilize to powerful technique of chromosome jumping to speed up the time required to isolate the CF gene much faster than if they were to use conventional genetic techniques. 3 In order to determine the exact location of the CF gene, probes were taken from the nucleotide sequence obtained from chromosome jumping. To get these probes, DNA from a horse, a cow, a chicken, and a mouse were separated using Southern Blot electrophoresis.

Four probes were found to bind to all of the vertebrate’s DNA. This meant that the base pairs ithin the probes discovered contained important information, possibly even the gene. Two of the four probes were ruled out as possibilities because they did not contain open reading frames which are segments of DNA that produce the mRNA responsible for genes. The Northern Blot electrophoresis technique was then used to distinguish between the two probes still remaining in order to find out which one actually contained the CF gene.

This could be accomplished because Northern Blot electrophoresis utilizes RNA instead of DNA. The RNA of cell types affected with CF, along with the RNA of unaffected cell types were placed on a gel. Probe number two bound to the RNA of affected cell types in the pancreas, colon, and nose, but did not bind to the RNA from non-affected cell types like those of the brain and heart. Probe number one did not bind exclusively to cell types from CF affected areas like probe number two did. From this evidence, it was determined that probe number two contained the CF gene.

While isolating the CF gene and screening the genetic library made from mRNA (cDNA library), it was discovered that probe number two did not hybridize. The chances for hybridization may have been decreased because of the low evels of the CF gene present within the probe. Hybridization chances could also have been decreased because the cDNA used was not made from the correct cell type affected with CF. The solution to this lack of hybridization was to produce a cDNA library made exclusively from CF affected cells. This new library was isolated from cells in sweat glands.

By using this new cDNA library, probe number two was found to hybridize excessively. It was theorized that this success was due to the large amount of the CF gene present in the sweat glands, or the gene itself could have been involved in a large protein family. Nevertheless, the binding of the probe proved the CF gene was present in the specific sequence of nucleotide bases being analyzed. The isolated gene was proven to be responsible for causing CF by comparing its base pair sequence to the base pair sequence of the same sequence in a non-affected cell.

The entire CF cDNA sequence is approximately 6,000 nucleotides long. In those 6,000 n. t. ‘s, three base pairs were found to be missing in affected cells, all three were in exon #10. This deletion results in the loss of a phenylalanine residue and it accounts for seventy percent of the CF mutations. In ddition to this three base pair deletion pattern, up to 200 different mutations have been discovered in the gene accounting for CF, all to varying degrees. The Protein Defect: The Cystic Fibrosis gene is located at 7q31-32 on chromosome number seven and spans about 280 kilo base pairs of genomic DNA.

It contains twenty four exons. 4 This gene codes for a protein involved in trans-membrane ion transport called the Cystic Fibrosis Transmembrane Conductance Regulator or CFTR. The 1,480 amino acid protein structure of CFTR closely resembles the protein structure of the ABC-transporter super family. It is made up of similar halves, each containing a nucleotide-binding fold (NBF), or an ATP-binding complex, and a membrane spanning domain (MSD). The MSD makes up the transmembrane Cl- channels. There is also a Regulatory Domain (R-Domain) that is located mid-protein which separates both halves of the channels.

The R-Domain is unique to CFTR and is not found in any other ABC-transporter. It contains multiple predicted binding sites for protein kinase A and protein Kinase C. 4 Mutations in the first MDS are mainly found in exon #4 and exon #7. These types of mutations have been predicted to lter the selectivity of the chloride ion channels. 4 Mutations that are in the first NBF are predominant in CFTR. As previously mentioned, 70 percent of the mutations arising in CF cases are deletions of three base pairs in exon #10. These three base pairs give rise to phenylalanine and a mutation at this site is referred to as DF508.

Such a mutation appears not to interfere with R-Domain phosphorylation and has even been reported to transport chloride ions. 6&7 There are five other frequent mutations that occur in the first NBF. The first is a deletion of an isoleucine residue, DF507. The second is a substitution of glycine or amino acid #551 by aspartic acid/F551D. The third involves stop mutations at arginine #553 and glycine #542. The fourth is substitutions of serine #549 by various other residues. The fifth is a predicted splicing mutation at the start of exon #11. Mutations within the R-Domain are extremely rare.

The only reason they do occur is because of frameshifts. Frameshifts are mutations occurring due to the starting of the reading frame one or two nucleotides later than in the normal gene translation. 4 Mutations in the second membrane spanning domain of the CFTR are also very rare and have only been detected in exon #17b. These have no relevance to mutations occurring in the first membrane spanning domain. They apparently do not have a significant impact on the Cystic Fibrosis Transmembrane Conductance Regulator either.

Mutations in the second nucleotide-binding fold occur frequently in exon #19 and exon #20 by the deletion of a stop signal at amino acid number 1282. Exon #21 is sometimes mutated by the substitution of asparagine #1303 with lysine #N1303K. 4 The Bio-Chemical Defect: Studies of the chloride channels on epithelial cells lining he lungs, sweat glands, and pancreas have shown a consensus in that the activation of chloride secretion in response to cAMP (adenosine 3′, 5′-monophosphate) is impaired in cystic fibrosis cases.

Another affected, independently regulated chloride channel that has been discovered is activated by calcium-dependent protein kinases. Sodium ions have also been noted to be increasingly absorbed by apical sodium channels. 8 Therefore, the lack of regulated chloride ion transport across the apical membranes and apical absorption of sodium ions, impedes the extracellular presence of water. Water will diffuse osmotically into cells and will thus cause the dehydration of the sol (5- mm fluid layer of the cell membrane) and the gel (blanket of mucus) produced by epithelial cells.

As a result of this diffusion of water, airways become blocked and pancreatic proteins turn inactive. An Account of the Absorption and Secretion of Cl-, Na+, and Proteins: An inward, electrochemical Na+ gradient is generated by the Na+, K+-ATPase pump located in the basolateral membrane (the cell side facing the organ it is lining). A basolateral co-transporter then uses the Na+ gradient to transport Cl- into the cell against its own gradient.

This is done in such a way that when the apical Cl- channels within the membrane spanning domain open, Cl- diffuse passively with their gradient through the cell membrane. 4 In pancreatic duct cells, a Na+, H+-ATPase pump is used and a bicarbonate secretion is exchanged for Cl- uptake in the apical membrane. Chloride ions then diffuse passively when the Cl- channels are opened. Such secretions also allow for the exocytosis of proteins in the pancreas which will later be taken into the small intestines for the breaking down of carbohydrates.

In addition to the pump-driven gradients and secretions, here exists autonomic neurotransmitter secretions from epithelial cells and exocrine glands. Fluid secretion, including Cl-, is stimulated predominately by cholinergic, a-adrenergic mechanisms, and the b-adrenergic actions. 4 Such chemical messengers cannot enter the cell, they can only bind to specific receptors on the cell surface and transmit messages to and through an intracellular messenger such as Ca2+ and cAMP by increasing their concentration.

The intracellular message is transmitted across the cell by either diffusion or by a direct cascade. One example of a directed cascade is the following: Possible Treatments For Cystic Fibrosis: One suggested treatment for CF has been to provide the missing chemicals to the epithelial cells. This can be accomplished by the addition of adenosine 3′,5’-monophosphate (cAMP) or the addition of the nucleotide triphosphates ATP or UTP to cultures of nasal and tracheal epithelia.

This has been proven to alter the rate of Cl- secretion by removing the 5-mmeter sol layer of fluid in the respiratory tract. 9 Moreover, luminal application of the compound amiloride, which inhibits active Na+ absorption by blocking Na+ conductance in the apical membrane, reduced ell secretion and absorption to a steady state value. Another treatment that has been suggested is to squirt solutions of genetically engineered cold viruses in an aerosol form into the nasal passages and into the lungs of people infected with CF.

This is done in hopes that the virus will transport corrected copies of the mutated gene into the affected person’s airways so it can replace the mutated nucleotides. 10 This form of treatment is known as gene therapy. A different approach taken in an attempt to cure cystic fibrosis involves correcting the disease while the affected “person” is still an embryo. Test tube fertilization (in itro fertilization) and diagnosis of F508 during embryonic development can be accomplished through a biopsy of a cleavage-stage embryo, and amplification of DNA from single embryonic cells.

After this treatment, only unaffected embryos would be selected for implantation into the uterus. Affected embryo’s would be discarded. Conclusion: Chloride conductance channels have dramatic potentials. One channel can conduct from 1×106 to 1×108 ions per second. 8 This is particularly impressive when you consider the fact that there are not many channels present on cells to perform the required tasks. As a result of this, a utation of one channel or even a partial mutation of a channel, that causes a decrease in the percentage of channel openings, can exert a major effect.

Even the mildest of cures altering the Cystic Fibrosis Conductance Regulator in CF afflicted people would lead to significant improvements in that individuals health. Since cystic fibrosis is the most common genetic disorder, particularly amongst Caucasians, in today’s society, intense research efforts towards its cure would be invaluable. When will cystic fibrosis be completely cured? No one can say for sure but, strong steps have already been taken towards reaching this goal.

Sexual Transmitted Diseases Defined

A sexually transmitted disease is not the same as genital disease. Most genital diseases are not caused by sexually transmitted organisms. But most sexually transmitted infections do involve the genitals. Infection of the rectum, throat, and the eye are also common. Alot of sexually transmitted diseases spread from a single place and produce sores on parts of the body. At least a dozen diseases are sexually transmitted. Sexually transmitted diseases occur mainly in people 15 to 30 years of age. But sometimes people are born with it because of an infected mother.

People with a sexually transmitted Disease are usually at high risk for catching other diseases. There are more male infections reported than female cases. This is caused by prostitutes and homosexual contacts. 50 percent or more infections result from homosexual contacts. Other infections like syphilis, herpes, and HIV infection may be passed on to the fetus or during childbirth. The fetus or baby can suffer from the disease and can die from it. The helping of STDs has three parts: treatment, counseling, and following up.

Sometimes treatment is given in a single dose but in sometimes you have to take it more than once. A person can still be infected even if the symptoms go away. That is why a follow-up visit is important. To avoid spreading the infection the person should not have sex until the doctor says that it is cured. It can take up to fourteen days. This stops the Ping Pong effect. This infection is caused by the Herpes simplex virus. The symptoms are similar, and can result from either oral-to-genital or genital-to-genital contact.

The virus causes blisters on the genitals, similar to the cold sores that occur on the mouth. Cold sores on the mouth are also caused by the herpes virus. These infections are caused by viruses cures are not available. It has been estimated that approximately 1 in 6 people in Australia has had a history of genital herpes at some time. Not all people infected with the herpes virus will have symptoms. As many as 60-70% of people with herpes virus type 2 infection by a blood test have not had symptoms diagnosed as genital herpes.

Things occur most often on the penile shaft, glans or anal area and on the labia, clitoris,vagina or cervix. They also are around the mouth or on the throat after oral sex. . Genital herpes is usually more painful in women Vaginal and blisters may be so painful that women become unable to pass urine. It is important to get early treatment in order to prevent this from getting worse. Some symptoms happen for 1 to 3 weeks. Herpes lives in the body between symptoms.

Relapses can happen by emotional or physical stress, fever, trauma, hormonal changes, sunlight, alcohol. There are two different Infections Asymptomatic Infections and Neonatal Infections. Genital herpes can be passed on through most forms of sexual contact, genital-to-genital, oral-to-genital, and mutual masturbation. Many people are naware that cold sores may cause genital infection during oral sex. It is also possible for a person to transfer herpes from their own mouth to their genitals, and to their eyes. Condoms may further reduce spread between attacks.

Some treatments that can relieve discomfort: -Keeping sores clean and dry – Wrapping an ice-block in a towel -Bathing in salt water -Drinking plenty of water -If urination is painful, urinating in a hot bath or, for women, using both hands to separate -the lips of the vulva to achieve a free stream of urine, preventing urine from touching the lcers. -Wearing loose, cotton underpants and avoiding tight trousers – aspirin Anti-Herpes Drugs: Acyclovir The use of condoms during vaginal and anal intercourse reduces the risk of genital herpes, but protects only those areas in contact with the condom.

Because herpes can be transmitted from mouth-to-genitals condoms or dental dams may be used during oral sex. If  there are sores , it is important to avoid oral sex. Because herpes can be spread by the hands between people, it is important to wash your hands if they have come into contact with sores. The yeast like organisms that cause candidiasis are very common and normally are in the vagina as well as the mouth and in the intestines of most people. Candida is not an actual STD. It is seen in most sexually active people.

The presence of candida doesn’t usually have symptoms. There is a change in the pH of the vagina and may cause a problem in the balance of the normal flora. As a result, candidal overgrowth can occur and then cause symptoms. Some things that cause symptoms are heat, moisture, diabetes, steroid medications, cancer, chronic infection, and malnutrition . Men can also get candidiasis, which causes balanitis which causes inflammation of the glans penis. This usually happens to uncircumcised men who still have a foreskin which gives moist conditions for candidal overgrowth.

Some symptoms are itchiness in the anal and genital area, which intensifies at night, smooth to firm vaginal pus discharges, inflamed, split, and abraded skin and Inflammation of the glans penis. There is some treatment to change some of the factors that prevent the organism to spread. Minor vaginal candidiasis is treated with anti fungal agent n the form a capsule of nystatin which is inserted into the vagina, or a vaginal cream. Another way to treat this is natural yoghurt which can be inserted into the vagina or a vinegar and water douche.

Genital and oral antifungal therapy can be effective also, however, thrush can always recur because candida lives in the bowel. Candida cannot be permanently taken care of. Carefully washing and drying of the anal and genital area using soap helps somewhat. Chlamydia grows within cells. Chlamydia usually infects the cervix and fallopian tubes of women and the urethra of men. Chlamydial infections are said to be the most common of all STDs. It is also said that in a population of 15 million, there are up to 300,000 cases of chlamydia each year.

There are many undiagnosed cases of chlamydia in the community. It has been estimated that the true population of chlamydia in sexually active people may be in the order of 5% to 10%. Chlamydia often produces no symptoms. 60% of women and 40% of men have no symptoms. Infection of the cervix and fallopian tubes occurs more, and chlamydia can also cause urethral infection. Symptoms can include pain in rination, bladder infection, a thin vaginal discharge of pus and lower abdominal pain. Inflammation of the cervix with pus is very common.

Eye infections in infants born of infected mothers can also occur. In men, chlamydia may produce inflammation of the urethra similar to gonorrhoea. Symptoms for men may include discharges also. The most severe complication of chlamydia, is the risk of pelvic inflammatory disease (PID). As a result of infection to women it travels into the upper genital tract. Chlamydia can also lead tothe genital tract in men causing epididymitis,although this is much less ommon for men than for women. The risk of infection from person-to-person is alot like gonorrhoea.

It can also be passed to the eye by a hand moistened with infected fluids. Chlamydia can be transmitted during anal intercourse causing inflammation of the rectum. Chlamydial infections are treated the best with a drug doxycycline, taken orally for 10 days. Other infections, such as PID, require longer treatment. For  prevention, use of condoms during vaginal and anal intercourse works well. Because chlamydia can infect the eyes, care must be taken to avoid spreading sexual fluids into them.

Narcolepsy Disease Essay

Narcolepsy is a disease that has been on the receiving end of many jokes in our society. Yet it is a serious and life altering disease that is no laughing matter to the 1,000 in every 2,000 people in the U. S. that have it. I was drawn to this article because a former supervisor that I worked with had this disease. She was prescribed the drug Ritalin. It always impressed me that she could confront an angry client or give a speech without succumbing to the symptoms of her disease.

She revealed that her case of narcolepsy wasn’t that bad, but without the Ritalin she would just fall asleep anywhere. “The overall incident of narcolepsy is about 10 times that of Lou Gehrig’s disease, half that of multiple sclerosis, five times that of cystic fibrosis, and about one quarter that of Parkinson’s disease. ” Narcolepsy is a chronic disease, but not a progressive one. It is a puzzling neurological disorder that causes cataplexy, the loss of skeletal muscle tone without loss of consciousness, and persistent daytime sleepiness.

Cataplectic attacks of narcolepsy can be triggered by exceedingly strong emotions such as laughter, embarrassment, anger, and athletic or sexual exertion. In tests on narcoleptic dogs, Emmanuel Mignot of Stanford and his co-workers identified a gene responsible for narcolepsy in dogs. “His research group determined that the dogs carry a mutation in the receptor for a neurotransmitter called hypocretin or orexin. ” These receptors are missing a critical part, so they can’t respond normally to messages they receive.

This is a recessive trait in the canines. However, they state that it is unlikely that most human narcoleptics have these mutated genes. Most narcoleptics have no narcoleptic relatives, and the disease does not occur until the second or third decade of life. Also, they have concluded that in 75 percent of the cases in which narcolepsy occurs in an identical twin, the other twin is unaffected. This, they say, indicates that environmental conditions are important in human narcolepsy.

What environmental conditions are they? Damage to the hypocretin/orexin system due to environmental factors may mimic the symptoms caused by mutations. They feel that narcolepsy may be an auto-immune disease, in that the body turns against one of its own tissues are cell types. “The next step will be to determine whether the immune systems of narcoleptics are mistakenly targeting the hypocretin/orexin receptors in their own brains as foreign. ” according to Jerome Siegel.

There are no concrete answers at the present time. Just hypotheses. Right now the only thing that science has to offer a narcoleptic is drugs to control their symptoms. For which I am sure that the sufferers of this disease are very grateful. We never seem to care about a disease until it strikes us or a loved one or friend. I’m thankful we have scientists out there who are working on answers to the causes and cures of various diseases, that hopefully, we may never have occasion to know about.

Alzheimer’s Disease – progressive and irreversible brain disease

Alzheimer’s Disease is a progressive and irreversible brain disease that destroys mental and physical functioning in human beings, and invariably leads to death. It is the fourth leading cause of adult death in the United States. Alzheimer’s creates emotional and financial catastrophe for many American families every year. Fortunately, a large amount of progress is being made to combat Alzheimer’s disease every year. To fully be able to comprehend and combat Alzheimer’s disease, one must know what it does to the brain, the part of the human body it most greatly affects.

Many Alzheimer’s disease sufferers had their brains examined. A large number of differences were present when comparing the normal brain to the Alzheimer’s brain. There was a loss of nerve cells from the Cerebral Cortex in the Alzheimer’s victim. Approximately ten percent of the neurons in this region were lost. But a ten percent loss is relatively minor, and cannot account for the severe impairment suffered by Alzheimer’s victims. Neurofibrillary Tangles are also found in the brains of Alzheimer’s victims.

They are found within the cell bodies of nerve cells in the cerebral cortex, and ake on the structure of a paired helix. Other diseases that have “paired helixes” include Parkinson’s disease, Down’s Syndrome, and Dementia Pugilistica. Scientists are not sure how the paired helixes are related in these very different diseases. Neuritic Plaques are patches of clumped material lying outside the bodies of nerve cells in the brain. They are mainly found in the cerebral cortex, but have also been seen in other areas of the brain.

At the core of each of these plaques is a substance called amyloid, an abnormal protein not usually found in the brain. This amyloid core is surrounded by cast off fragments of dead or dying nerve cells. The cell fragments include dying mitochondria, presynaptic terminals, and paired helical filaments identical to those that are neurofibrillary tangles. Many neuropathologists think that these plaques are basically clusters of degenerating nerve cells. But they are still not sure of how and why these fragments clustered together.

Congophilic Angiopathy is the technical name that neuropathologists have given to an abnormality found in the walls of blood vessels in the brains of victims f Alzheimer’s disease. These abnormal patches are similar to the neuritic plaques that develop in Alzheimer’s disease, in that amyloid has been found within the blood-vessel walls wherever the patches occur. Another name for these patches is cerebrovascular amyloid, meaning amyloid found in the blood vessels of the brains.

Acetylcholine is a substance that carries signals from one nerve cell to another. It is known to be important to learning and memory. In the mid 1970s, scientists found that the brains of those afflicted with Alzheimer’s disease contained ixty to ninety percent less of the enzyme choline acetyltransferase(CAT), which is responsible for producing acetylcholine, than did the brains of healthy persons. This was a great milestone, as it was the first functional change related to learning and memory, and not to different structures.

Somatostatin is another means by which cells in the brain communicate with each other. The quantities of this chemical messenger, like those of CAT, are also greatly decreased in the cerebral cortex and the hippocampus of persons with Alzheimer’s disease, almost to the same degree as CAT is lost. Although scientists have been able to identify many of these, and other changes, they are not yet sure as to how, or why they take place in Alzheimer’s disease.

One could say, that they have most of the pieces of the puzzle; all that is left to do is find the missing piece and decipher the meaning. If treatment is required for someone with Alzheimer’s disease, then the Alzheimer’s Disease and Related Disorders Association(ADRDA), a privately funded, ational, non- profit organization dedicated to easing the burden of Alzheimer victims and their families and finding a cure can be contacted.

There are more than one hundred and sixty chapters throughout the country, and over one thousand support groups that can be contacted for help. ADRDA fights Alzheimer’s on five fronts 1- funding research 2- educating and thus increase public awareness 3- establishing chapters with support groups 4- encouraging federal and local legislation to help victims and their families 5- providing a service o help victims and their families find the proper care they need.

Of all the scientists to emerge from the nineteenth and twentieth centuries there is one whose name is known by almost all living people. While most of these do not understand this man’s work, everyone knows that its impact on the world of science is astonishing. Yes, many have heard of Albert Einstein’s General Theory of relativity, but few know about the intriguing life that led this scientist to discover what some have called, “The greatest single achievement of human thought. “

Leukemia, a group of blood cancers

Leukemia strikes all ages and both sexes. In 1995 approximately 20,400 people died from Leukemia. The all time five year survival rate is 38%. This rate has gone to 52% in the mid 1980’s. Approximately 25,700 cases were reported in 1995 alone(American Cancer Society-leukemia, 1995). Leukemia is a form of cancer in the blood cells. Most forms of Leukemia occur in the white blood cells. These abnormal cells reproduce in large quantities and look and perform differently than normal cells(MedicineNet- leukemia, 1997).

Right now the causes of Leukemia are unknown. Some studies have shown that xposure to high-energy radiation increases chances of contracting leukemia. Such radiation was produced in the atomic bombing of Japan during World War II. There is also enough energy in nuclear plants so strict safety precautions are taken. Some research shows that exposure to electric magnetic fields, such as power lines and electric appliances, is a possible risk factor. More studies are needed to prove this link.

Some genetic conditions, such as Down’s syndrome, are also believed to increase the risk factor. Exposure to some chemicals is also suspected to be a risk factor. By learning the causes of leukemia reatment options will become available(MedicineNet-leukemia, 1997). There are many symptoms of leukemia. The symptoms of leukemia are the same for all the different types of leukemia. The acute types of leukemia, ALL and AML, symptoms are seen more quickly than in the chronic types of leukemia, CLL and CML, where symptoms do not necessarily appear right away.

The symptoms are flu symptom, weakness, fatigue, constant infections, easily bleed and bruise, loss of weight and appetite, swollen lymph nodes, liver or spleen, paleness, bone or joint pain, excess sweating, swollen or bleeding gums, nosebleeds and ther hemorrhages, and red spots called petechiae located underneath the skin. In acute Leukemia the cancerous cells may collect around the central nervous system. The results can include headaches, vomiting, confusion, loss of muscle control, or seizures.

These clumps of cancer cells can collect in other various parts of the body(MedicineNet-leukemia, 1997 and American Cancer Society- leukemia, 1995). Leukemia can be diagnosed in a number of ways. Blood work is commonly done in the laboratory. Different forms of blood work include checking the hemoglobin count, platelet count, or white blood cell count. X-rays are outinely done for treatment follow-up. Ultrasound is also used as a treatment follow-up. CT Scan is a special type of x-ray used as a detailed cross section of a specific area of the body.

Bone marrow is routinely tested to examine progress of the disease. Spinal taps are also used in certain types of cancers. The spinal fluid is checked to see if cancer cells are present(Parent and Patient handbook-hematology/oncology clinic, Children’s Hospital of Michigan, 19?? ) Treatment of Leukemia is very complex. Treatments are tailored to fit each patient’s needs. The treatment depends on the type of the cancer and eatures of the cells. It also depends on the patient’s age, symptoms, and general health. Acute Leukemia must be treated immediately. The goal of treatment is to get the cancer into remission.

Many people with Leukemia may be cured. To be considered cured, you must be cancer free for at least five years. This time also varies depending on the type of cancer. The most common treatment of Leukemia is chemotherapy. Bone marrow transplants, Radiation, or biological therapy are also available options. Surgery is also occasionally used. Chemotherapy is a treatment method in which drugs are given to kill off the cancerous cells. One or more drugs may be used depending on the type of Leukemia. Anticancer drugs are usually given by IV injection. Occasionally they are given orally.

Chemotherapy is given in cycles: a treatment period followed by a recovery period followed by another treatment period and this process continues for a certain amount of time. Radiation therapy is used along with chemotherapy in some occasions. Radiation uses high energy beams to kill the cancerous cells. Radiation can be applied to either one area or to the whole body. It is applied to the whole body before bone marrow transplants. Bone marrow transplants are used in certain patients. The patients bone marrow is killed by high doses of drugs and radiation.

The bone marrow is then replaced by a donor’s marrow or the patient’s marrow that was remove before the high amounts of drugs and radiation. Biological therapy involves substances that affect the immune system’s response to the cancer(MedicineNet-leukemia, 1997). In conclusion, Leukemia can be fatal, but with early diagnosis, proper treatments, and a lot of luck, it can be put into remission. With treatment options improving constantly, there may one day be a sure cure. Leukemia is a very dominant disease and very hard to treat. The key may be in the causes.

The Down Syndrome

Down syndrome, the most common genetic birth defect associated with mental retardation, occurs equally across all races and levels of society. The effects of the disorder on physical and mental development are severe and are expressed throughout the life span. The individual’s family is also affected emotionally, economically, and socially (Bellenir 1996).

Characteristics associated with Down syndrome include: epicanthal folds, unilateral squints, a flat saddle nose, flat jaw bones, large fissured tongue (macroglossia), hyptonic lower lip (cheilosis), receding chin (microgenia), protruding flat ears, dry and cracked lips, dry skin, delays in skeletal maturation, shorter than average stature, delays in motor skill acquisition, flat feet, intellectual disability, delayed language abilities, and numerous others (Whitaker 1998).

It has only been known since as recently as 1959 that Down syndrome, first described in 1866 by Langdon Down, is caused by extra genetic material carried on the 21st chromosome. All normal cells in the human body, except for eggs and sperm cells, have 46 chromosomes. These being 44 autosomes and two sex chromosomes. Normal reproductive cells contain one half of that number- 22 autosomes and one sex chromosome. The genetic effect associated with Down syndrome is the presence of extra material on the chromosome pair 21. This extra material in chromosome pair 21 is usually another chromosome.

This is called Trisomy 21 (see figure 1). It occurs in 95% of all Down syndrome cases. Trisomy 21 results from as error in cell division during the development of the egg or sperm, or during fertilization (Bellenir 1996). Translocation is an interchange of chromosomes or parts of chromosomes which may result in a mismatched pair. Translocation occurs in about four percent of the cases. Children with translocation Down syndrome have an extra number 21 chromosome that has broken and become attached to another chromosome (Bellenir 1996).

In a few cases, a person can carry a broken chromosome 21 without showing any symptoms of Down syndrome because the correct amount of genetic material is present, just out of place. Accounting for about one percent of the cases of Down syndrome is mosaicism. Affected persons have cells with different chromosome counts (for example, 46 in some cells and 47 in others) (Bellenir 1996). Essentially this is a fraction of an extra chromosome 21 attached to one of the existing chromosomes. Mosaicism is not carried in the parents’ chromosomes; it is accidental, resulting from an error in cell division of the fertilized egg.

Being that only some of their cells have an abnormal number of chromosomes, babies with mosaic Down syndrome may have only some of the features of the disorder. Although surveys are all different the incidence of Down syndrome is around 1 in 800 live births. However, the risk of bearing a child with the disorder increases dramatically with advancing maternal age. For example, the incidence is less than one in 1,000 live births to women under 30, increasing to one in 35 to mothers aged 44. Below is a table of the relationship between mothers age to the incidence of Down syndrome. It was taken from the Genetic Disorders Source Book.

Mother’s age Incidence of Down syndrome Mother’s age Incidence of Down syndrome under 30 less than 1 in 1000 39 1 in 135 The sharp rise in the incidence of babies with Down syndrome born to older women may occur for several reasons. Although males produce new sperm continually, women are born with all the oocytes they will ever have. An oocyte remains in a state of incomplete development until the process begins that results in ovulation. Thus, a 35-year-old woman has 35-year-old oocytes (Bellenir 1996). Many body functions decline with age, and oocytes in the older woman simply may be past their prime.

Or they may have been exposed through the years to damaging internal and external influences, including medications, radiation or other harmful agents. Until recently, the mother was believed to be the source of the extra genetic material. However, new laboratory techniques, have demonstrated that in about 25 percent of the studied, the father is the source of the extra chromosome. Because older fathers have been associated with increased incidence of other genetic disorders, researchers are looking more closely at the possible effect of the father’s age on the incidence of Down syndrome.

In one project, involving only a small number of cases, a paternal age effect for fathers over 55 was reported (Bellenir 1996). In most cases, the first medical exam identifies the newborn with Down syndrome. Expecting a normal infant, most parents are intensely disappointed when the physician explains their new baby’s condition to them. Parents generally experience an initial period of shock, follows by denial, grief, anger, adjustment and finally acceptance. Faced with an abrupt change in their hopes and plans for the child, parents need early counseling and guidance to help the cope with the situation and plan for their child’s future.

The presence of a retarded child in the home is not necessarily detrimental to the happiness and welfare of siblings or to the family as a whole. With professional guidance, and accepting community attitude and the help of parent support organizations, a loving home atmosphere can evolve. All children, but especially those with Down syndrome, benefit from loving and caring homes. Since stereotypes of Down syndrome persist, early and sound information for new parents and other family members is very important.

In the past, most physicians recommended placing the infant in an institution immediately upon discharge from the hospital nursery (Bellenir 1996). New developments in care and treatment mow permit other courses, but, unfortunately, parents are mot always made aware of these approaches or to other alternatives to institutionalization, such as the parents raising the child. There are several techniques for the early detection of the disease in fetuses. The newest being an fetal nuchal translucency test, which is done using ultra sound.

Modern ultrasound imaging can identify and measure small subcutaneous collections of fluid behind the necks and backs of fetuses during the late first trimester. Several reports link the increased thickness of such “fetal nuchal translucency” with chromosomal abnormalities (Neilson 1997). Amniocentesis is another way to test for Down syndrome. It is performed by piercing the amniotic sac and drawing out some of the fluid surrounding the baby. Amniocentesis offers mos patients 11-14 weeks LMP with 99 percent detection by acetalcholinestrase (AchE) testing.

Health and developmental problems occur in the child during the first years of life, close monitoring is necessary throughout this period. Medical management and surgical correction, when indicated, of the life-threatening congenital defects frequently associated with Down syndrome are essential to assure the child’s optimal health and well-being. Children with Down syndrome are more susceptible to infections than normal children and, as a result often suffer chronic respiratory infection, recurrent pneumonia and repeated bouts of tonsillitis.

Researchers believe that children have a deficient immune response. According to several studies, they not only have fewer of the cells needed for normal immunologic response to infection, but the cells they have do not function well (Bellenir 1996). Development delays are evident from the early months of life. Infants are slow to turn over, sit stand, speak and respond. This may be due to the mental retardation caused by the disease. Studies on infants with Down syndrome show that the brain is virtually normal size and structure for at least a few months after birth.

Infants with the disease later become retarded, largely because of the over-expression of the gene for the enzyme, Superoxide dismutase (SOD). The result of this over expression is the production of excess hydrogen peroxide, a known cellular toxin that causes progressive cell damage (Whitaker 1997). It is widely accepted that a major disruption of the body’s free radical defense system that results in excess production of potent free radicals such as H2O2 would cause generalized progressive cellular damage resulting in both mental and physical disability (Whitaker 1997).

Hearing loss occurs more frequently among individuals with Down syndrome than in the normal population. Because affected persons are particularly vulnerable to deficiencies in speech and language development, careful screening and testing for hearing loss should be done and corrective procedures started as early as possible. Compared with early delay in postural-motor development (sitting, standing, walking), the delay in speech an language development encountered by the child with Down syndrome is more noticeable.

In addition, beginning in the second year of life, there is an apparent decline in intelligence because language and speech become increasingly more important in intelligence tests (Bellenir 1996). The reasons for the special difficulty that Down syndrome children have in speech and language are not fully understood. Part of the difficulty stems from the characteristic overlarge and protruding tongue, and in some instanced surgical correction of this condition has been helpful. The acquisition of speech and language also depends upon the patterns of vocal and verbal interactions between child and parents.

There is no set regimen of medicines that can prevent or reverse the effects of Down syndrome. The use of exogenous antioxidants, Vitamin A, E, C, selenium, etc. , can protect against damage and literally prevent much of the disability that would be expected to result from it. Preventing this damage may indeed mean that a child will be healthier, grow at a more normal rate, and have higher mental function (Whitaker 1997). The retardation of the brain can cause many problems. The dendrites are often broken off near the body of the neuron cell, inhibiting and changing both the flow and form of transmitted messages.

People suffering from this disease may have to deal with Epilepsy in their middle ages. Epilepsy occurs in about two percent of people with Down syndrome under the age of 20 years, but rises to about 12 percent in those aged over 55 years. The thyroid gland produces a number of hormones. These control the rate of body metabolism, assist with never cell activity and are essential to normal body growth. An under active Thyroid gland can lead to loss of energy, weight gain, reduced body growth and impaired intellectual abilities.

Thyroid hormones are essential for normal growth. Thyroid disease is common in about 40 percent of people with Down syndrome (Martin 1997). As many as 80 percent of people with Down syndrome may have a hearing loss which can affect language and speech development as well as academic progress. Some of the problems which contribute to the hearing problems include a smaller pinna of the inner ear and a flattened ear which does not catch sound effectively. The outer ear may often have narrower canals which are easily blocked by dry skin or wax.

Not all families have easy access to specialized resources for their handicapped child. In these situations, efforts have focused on enhancing the ability of parents to teach their children speech, language, self-help, and social skills through home-based programs. If effective early intervention programs can be designed and used in the preschool years, the subsequent educational progress of a child with Down syndrome may be altered significantly. A child may be classified as educable, rather than trainable, and therefor qualified for different educational opportunities and strategies.

An “educable” person is defined as one who is capable of learning such basic skills as skills as reading and arithmetic. Although trainable (moderately retarded) persons are very limited in educational attainments, they can profit from simple training for self care and vocational tasks (Bellenir 1996). Under Public Law 94-12, each state is required to have a goal that “all handicapped children have available to them … a free public education and related services designed to meet their unique needs. ” (Bellenir 1996). This means that all Down syndrome children are given the right to start in a public elementary school.

The educable are main streamed into class with the other children, while those who are more limited in their abilities are taught just basic skill for life. In this there are no grade levels or individual grades given. Here they first start to interact socially with other handicapped children. At adolescence, children with Down syndrome tend to be over weight. This may be due to general body type, lack of physical activity associated with social isolation and reduced outlets for activity, and excessive eating of high calorie foods.

A supervised regimen of diet and exercise throughout this period will have a beneficial effect. Parental concern for the social and sexual life of their child with Down syndrome usually intensifies at adolescence. Unless earlier efforts have been highly successful, the child’s social isolation increases outside of structured school and other group situations. Although persons with Down syndrome seldom reproduce, it is necessary to provide them with a healthy understanding and orientation toward sexuality. Pregnancy has been rare, probably as a result of sexual isolation in institutions, but sometimes does occur.

About half the infants born of such pregnancies have Down syndrome. Males with trisomy 21 not associated with mosaicism or translation have not been known to reproduce (Bellenir 1996). For almost a century, researchers have observed that individuals born with Down syndrome tend to age prematurely. This phenomenon has become more apparent with the increased longevity of affected persons. Because intellectual deterioration is more difficult to assess in retarded individuals, the judgment of premature ageing in those with Down syndrome is based on the emotional deterioration shown in behavior.

An increased number of adults with Down syndrome are living in our communities and seeking health care from physicians. For patients to be enrolled in a medical practice, guardianship status should be determined. These patients should be involved in there own care to as great an extent as possible. Many health problem arise for adults with Down syndrome. Their medical bills are typically taken care of by the government’s Medicaid. Below is a list of special health problems and their incidence for adults with Down syndrome taken from an article on caring for adult who are mentally retarded by Barry Martin.

Hysteria – a very unique and abnormal mental disease

Hysteria is a very unique and abnormal mental disease. What makes it so interesting is that it causes physical symptoms that someone would not normally experience. ‘Mental conflicts are unconsciously converted to symptoms that appear to be physical, but for which no organic cause is found’;(Hysteria 1). One major outburst of hysteria occurred in 1692, resulting in the deaths of twenty-four innocent lives. ‘By the time hysteria had spent itself, twenty-four people had died’;(TWHSTSV 2). This type of hysteria was mass hysteria, where a group of people are in a frenzy as opposed to just one individual.

Evidently, hysteria is a very serious disease and has the potential to cause many avoidable deaths. Mass hysteria is a frenzy that has the potential to effect an entire community, state or possibly even country or nation. ‘[It is] a condition where a group of people dash about wildly, screaming and sometimes talking as if another person is in them; experiencing rapid breathing, spasms of extremities or even fainting’;(Hayes 1). In some ways, it can be look on as a chain reaction. ‘It is often caused by new problems that worsen existing difficulties’;(TWHSTSV 2).

When one person sees another running about wildly and finds out what the cause is, he or she will do the same; until eventually the idea spreads to the entire population. Some problems that cause these are ‘overly strict regulations, lack of open communication between the authorities and the residents, as well as inadequate healthy recreational outlets’;(Hayes 1). All these issues are things that if performed, can help prevent or calm an outbreak of mass hysteria. In the Salem Witch Trials, the ‘existing difficulties’; that led up to the witchcraft theory were ordinary stresses of seventeenth century life in Massachusetts.

These include ‘a strong belief in the devil, factions among Salem Village fanatics and rivalry with nearby Salem Town, a recent small pox epidemic and the threat of attack by warring tribes’;(D’Amario 1). All these issues led to rising fear and suspicion. ‘Soon prisons were filled with more that 150 men surrounding Salem; their names had been ‘cried out’ by tormented young girls as the cause of their pain. All would await trial for a crime punishable by death, the practice of witchcraft’;(D’Amario 1). Many theories exist as to why these girls behaved as they did and caused the witchcraft hysteria.

One theory states: ‘they had eaten bread contaminated with a hallucinogenic fungus’;(TWHSTSV 2), which supposedly caused them to act as they did. Another says: ‘they were bored and got caught up in the sudden attention they were receiving and the power they were exercising’;(TWHSTSV 2). ‘Still others contend that the accusations were the result of old jealousies among neighbors. And Chadwick Hansen in his book ‘Witchcraft at Salem’ claims that he girls were the victims of clinical hysteria themselves’;(TWHSTSV 2).

Whatever the true cause of the mass hysteria during the Salem Witch Trials, by the end 150 had been accused and twenty-four lost their lives. Nineteen people had died by hanging, and one even by being crushed by heavy stones. ‘Those accused who did not confess to working with the Devil were convicted, imprisoned, and killed’;(Witch 1). In the viewpoint of many Americans, ‘it is considered a tragedy that American society had to witness’;(Hayes 1). People who were convicted really had no chance of living.

If the people of Salem asked the convicted person whether or not he/she was a witch and the person said ‘no,’; he/she would be killed for not admitting it. Likewise, if he/she said that he/she was in fact a witch, then they would be killed for actually being one. Without a doubt, the mass hysteria that developed in Salem in 1692 was very serious and tragic. It was a group of crazy maniacs who killed innocent people to try to come up with an explanation for unexplainable events. This is a great example of the consequences hysteria can lead to, and how dangerous of a disease it really is.

The Alcohol Disease

Being in college, the topic that seems to suffice everyone’s attention span would contain reference to consuming a drink with some presence of alcohol. Party, kegger and beer all convert a seemingly dull conversation to a hysterical joke that everyone understands. The person that consumed the most liquor and either passed out or vomited uncontrollably reins over the mere individuals who staggered out of the event only half full. While some crown them the king of the party, others who comprehend the effects of drinking coin the phrase alcoholic.

Alcohol, a chemical compound of varying parts of carbon, hydrogen and oxygen,” (23) has become a serious problem for Americans, who strive to have a good time. While not all people who drink heavily are alcoholics, the addiction to liquor is caused by several varying aspects and the problem will only be answered once there is a national awareness of the consequences. What is alcoholism? One source states, “Alcoholism is a specific disease to which some people are vulnerable.

Those who are vulnerable develop the disease if they take up drinking” (2) while others call it merely an obsession. To be able to understand the result of drinking, the beginning of one’s fixation should be clear. Some of the reasons a person begins to drink depends on how often they are around the substance, if their parents were addicted and their mental state prior to drinking. It has been proven that alcoholism is an inherited trait from one’s family tree. Family members pass along their negative aspects such as a drinking fascination which develops early in a child’s life.

A father who is suffering from a drinking problem may effect his son’s or daughter’s outcome in life due to either his genetic material or because the father as driven the son or daughter to drink. An offspring may turn towards alcohol at a young age if the child has been exposed to the drug early on when the brain has not finished growing. New research has shown that a person’s brain does not stop maturing until the early twenties. This new discovery explains why kids who start to drink at a tender age are more likely to continue towards alcoholism then a grown adult.

When a young adult, ages 12 to 20, consume a beverage that contains liquor they damage parts of the brain responsible for memory and retention, and other growth mechanisms (Ariniello 2). The Islander Waves states that “Those with familial history of the disease are at a higher risk, but alcoholism is not exclusively a genetic disorder” (Griffin 8) and that other factors contribute to one’s struggle with the drug. Although the age for the consumption and purchasing of liquor is 21, there are 9. 7 million minors who drink each year.

Minors tend to see drinking as exciting and a chance to spend time with an older group of friends. The person who buys the beer, malts or wine not only breaks the law by providing the drug to kids who are underage but they harm them for the rest of their lives. Many underage bingers tend to depend on the alcohol for the rest of their life and continue the trend of handing over the drinks to children under the age of 21. The availability of alcohol scars a person for life and makes them crave the ambrosia. Billboards, television commercials and radio ads all contribute to the increase of liquor drinkers.

Commercials often feature scantily clad women or men playing sports which appeal to a person since they toy with their emotions. Advertisements scream “Drink me and look this good! ” to all that listen when in reality a beer or a malt beverage ill in most cases, not win you the big game or the dream girl. “Alcohol is a powerful drug” states the author of Drinking, Jack Weiner (214). Jack also asserts that since alcohol makes the drinker feel “loose and carefree” the liquor attracts people who can not find alternate ways of relieving stress in their lives.

A man who loathes his job is more likely to drink heavily then a man who enjoys going to work. Liquor evaporates the tensions and creates a new world for the drinker to live in, one that he believes he controls. The top three causes of alcoholism provide deadly ffects that create a hazardous world for even the non-drinker to exist in. The predicament of alcohol dependence affects the people who drink, the businesses that sell and distribute the product, the fluctuating economy and the people whom have nothing to do with the using or purchasing of alcoholic products.

People who consume liquor have physical or mental problems that affect their way of life. Alcohol can be used as a drug and people become addicted to the substance. “It is astonishing how many drinkers are ignorant of the way their favorite alcoholic potions affect them” (Weiner 214). These people believe they need to drink in order to function in everyday life, while they are only harming themselves and the community they live in. Diseases such a liver damage, kidney failure and brain trauma are effects that many users encounter after constant usage of liquor.

The alcohol is spread throughout the system at a constant rate but when a person drinks quickly, it reduces the amount of time that the system has to evenly distribute the liquid and results in high blood alcohol levels. The bloodstream then transfers the drug to the liver, and the brain (214). Cirrhosis of the liver occurs when an alcoholic consumes so uch liquor that the liver can not function properly and shuts down. There is a higher risk for people who drink obsessively to contract cancer, especially the liver.

The heart and circulatory system need thiamine, a vitamin that is vital to the body, and when alcohol enters the bloodstream it lacks thiamine cause the organs not to function properly. The most important organ that liquor effects is the brain, which causes severe damage that is irreversible. Alcohol introduces itself to the brain by attacking the cerebrum and the destruction of the frontal cortex. The cerebrum harbors reason, conscious thinking, memory and control while the rontal cortex contains power and judgment (Bennett 7).

After awhile the blood in the system thins, the brain stops working properly and although problems may not occur right away, the person is stuck with life long complications such as liver and heart injuries. Early death is always the ultimate end to an alcoholic’s life. Consequently, individuals that choose not to succumb to the pressures of alcohol bare the cost of others that enjoy the liquor. Family members that pass away due to excessive drinking leave relatives alone and wondering what they could have done to help and any other questions regarding one’s addiction to alcohol.

Alcohol, like any other cause of unnecessary death, hits a family hard and never leaves them the same, but a little more knowledgeable and understanding. Speaking on a person note, tragedy due to drinking in my family has caused me to turn away from alcohol and endeavor to make others recognize the harms it produces. On the other hand, there are also people who decide to drink and drive, which either’s allows the person to get home safely, or causes an accident that injuries the vehicle or a person/s in the car. Also wreck can involve innocent drivers, or pedestrians.

When a person drives drunk they run the risk of damaging lives since when a person is intoxicated they lose reaction time responses and “believe they are driving more skillfully” (Weiner 217). The drunk driver swerves, speeds and hits animate and inanimate objects that they do not see due to the blurred vision that occurs. There is a fatal accident involving a driver that is legally drunk, which is . 08 or higher, every 30 minutes and make up for more then half of the traffic accidents in the United States (Cable 1).

These are “certain characteristics that a majority of alcoholics” posses and a tartling majority have a “low frustration tolerance” which means they are angered easily (Pittman 38). Drinking causes an imbalance in the brain which results in mood changes and they often lash out at others. When a person who is intoxicated is around other people their minds are clouded and a minor action can produce a huge commotion often involving fighting. This is practically scary if you are a family member, friend or acquaintance who can not escape their abusive ways. There are many ways that innocent people are affected by someone’s decisions to drink.

While he drunken individual hurts the naive person they are unaware of the damage they are causing in their own drunkenness, not only to the other person but to themselves as well. Alcohol is a drug of choice for many people who try to flee from their surroundings. There are many reasons that drive a person to drink, but it also comes with consequences that will follow them until they die. The only way to solve the problem of alcoholism is to understand what causes it and how it affects everyone in the country. If there was no alcohol the death rate would be lower, abuse would decrease and people could lead happier lives!

Huntington’s Disease Essay

Huntington’s disease, or Huntngton’s chorea, is a genetic disease that causes selective neural cell death, which results in chorea, or irregular, jerking movements of the limbs caused by involuntary muscle contractions, and dementia. It can cause a lack of concentration and depression. It also may cause atrophy of the caudate nucleus, a part of the brain. However, symptoms vary between individuals, with some sufferers showing symptoms that others do not. Those suffering from Huntington’s disease normally begin displaying symptoms between the ages of 30 and 50, but has been known to show itself in eople as young as two and as old as 80.

Huntington’s disease is inehrited from one of the victim’s parents. Since the gene for HD is dominant, there is a 50% chance of a sufferer’s offspring inheriting the disease. Because a victim usually does not begin to display symptoms until after the period in which he or she would have children and the disease may have been misdiagnosed in earlier generations as Parkinson’s disease or other similar affliction, he or she might pass along the gene without even knowing it. The gene for Huntington’s disease is located on the short arm of hromosome four in cytogenetic band 4p16. 3. It was first identified in 1993.

While everyone posseses this gene, in someone suffering from Huntington’s disease, the number of repeats of a certain trinucleotide, cytozine-adenine- guanine (CAG), is much larger than what it is in a normal person. In an average person, the number of repeats is between 9 and 37. But is a sufferer of HD, the repeat count is from 37 to 86. While nobody has found a direct correlation between the number of repeats and the age when symptoms appear, there is evidence that people with very high numbers of repeats contract the rarer early- nset Huntington’s disease, which usually affects people under the age of 20.

It is estimated that between . 1 and 10 % of people who suffer from Huntington’s disease have obtained it through new mutations. There are three different tests for Huntington’s disease. The first, presymptomatic testing, is for people who are at risk for the disease. The second, prenatal testing, is a testing of a fetus at risk for the disease. The third type of testing, confirmatory testing, is used on someone suspected of having Huntington’s disease. Treatment of Huntington’s disease usually involves counciling and ducation about the disease of both the family and the patient.

Since the symptoms are so varied in both type and severeness from patient to patient, medical treatment must be individualized. Depression, a common symptom, is usually treated with tricyclic antidepressants. Those that also show obsessive compulsive behavior may take some types of serotonergic agents. Neuroleptics, or drugs that block dopamine receptors, are useful in the treatment of chorea. It has been suggested that treatment with nerve-growth producing agents may be an affective treatment, but research is still being conducted.

Procedures such as pallidotomy, or removing part of the globus pallidus, and thalamotomy, or cutting part of the thalamus have both showed promising results in the treatment of the involuntary movements and tremors in Parkinson’s disease and may also help sufferers of Huntington’s. Fetal brain tissue transplantation has also helped in Parkinson’s disease patients. While there has been a few of these transplantations performed on HD patients, it is still too early to evaluate its success. Since the huntington protien causes a gain of function instead of a loss f function, normal gene therapy tecniques normally do not work.

Instead, the protien must be removed or its gain of function effects must be inhibited. Currently, the second approach makes more sense, since we already know how the huntington protein interacts with other proteins and we can, through this knowledge, find modulators to treat the disease. In conclusion, Huntington’s disease is a degenerative disease of the mind and body. It ultimately causes death. While current treatments can only help the symptoms, it is hoped that further research and new tecniques will bring about an effective cure.

Cystic Fibrosis – Genetic Disease

Cystic fibrosis is the most common autosomal recessive genetic disease of white Indo-Europeans (Caucasians). Three main systems are usually affected by cystic fibrosis. These include the lungs and respiratory tract, the digestive tract (especially the pancreas and intestines) and the sweat glands. The lungs will normally have a thick mucus line them in cases of cystic fibrosis which requires physiotherapy to dislodge the mucus and create sputum. The digestive enzymes that would come from the pancreas are blocked by the thick mucus; thus the person afflicted with the disease has trouble digesting foods that are high in fat and protein.

In cases that involve cystic fibrosis the salt that is lost during perspiration is much more than in “normal” situations. The upper respiratory tract is normally lined with a little bit of mucus that is sent out of the lung by the constant movement of the cilia that line the respiratory tree. “It is clear from detailed research that poor mucus clearance is not due to uneven ciliary beating. However, there is no doubt that mucus is poorly cleared against gravity in the presence of bacterial infection” (Harris 13-14). The pancreas itself secretes fluids that aid in the digestion and absorption of food in all of us.

When cystic fibrosis is present these enzymes are not going where they are needed. Most of the time there is need for supplemental nutrients, supplemental minerals, and/or dietary management. In the case of dietary management there is a plan for seven to eight small meals throughout the day. “This meal pattern enables the patient to consume more food without feeling too full and enhances the utilization of nutrients” (Ekvall 391). The sweat gland of a cystic fibrosis patient, when viewed under the microscope appears normal.

The secretions that the gland gives off are where the abnormality occurs. “It is known that the basic defect in cystic fibrosis is expressed as an abnormal regulation of the movements of salt across the layer of cells that line certain specialized ducts such as the sweat gland duct” (Harris 26). This causes a great deal of salt loss and therefore requires most cystic fibrosis patients to ingest salt pills to compensate for the loss. When all of the treatments are used together most patients of this fateful disease live long happy lives.

The physiotherapy that they must endure is the most grueling for most of the patients. This involves coughing up as much of the sputum as possible while inhaling a moisturizing mist and getting pounded on the back to loosen the mucus deep within their lungs. This activity is especially frustrating in the adolescent years when resistance comes into play. Parents find that the teenage years are the most grueling because there is a rebellious stage that most teenagers go through anyway. Having this disease on top of that is almost asking for further trouble.

The well siblings of those who are afflicted with this disease do not see it as a problem. Early on in life they are observant of their parents’ frustrations, but later learn that this is just another facet of life that is dealt to certain individuals. They see that their parents do not treat them any differently than their sibling who has the disease. ” ‘We both have to do chores,’ ‘She does the same amount,’ ‘We get treated the same’ are not uncommon among those families with sick and well children” (Bluebond-Langner 201).

The life of the child with this debilitating disease is not always as easy as some of these previous books have lead one to believe. This disease affects the person who has it, the siblings in the household, anyone who comes into contact with the sick person, and especially the parents of the sick individual. Yes, the afflicted is the most directly influenced by cystic fibrosis, but it is the parents who must provide most of the care to the person afflicted. This is a disease that is primarily identified early in a child’s life and treated from that day forward.

As stated before special diets or extra vitamins can be required to help children digest their food properly, and antibiotics are given to fight lung infections. In addition to all of this is the rigorous task of physiotherapy. This must be done two or three times daily so that the mucus does not have a chance to build up and cut off the supply of life giving air. “All this treatment is normally given in the child’s own home and has to be provided by the parents.

Obviously such an extensive program challenges even the most able” (Burton 8). Emergency hospitalization to combat lung infections and bowel obstructions are other factors that the parents of a cystic fibrosis patient must endure. The child who grows up with cystic fibrosis becomes increasingly aware of his/her differences as he/she gets older. These differences can either inhibit or benefit the child in his/her relationship with others. The friends that he/she makes can help with the daily procedures.

This may be hard for them to cope with at first, but in the end will benefit all parties involved. The friends will better understand what their buddy has to go through with this disease. It will become more acceptable, and fewer people will consider it an inhibition. Rather, it can be viewed as a learning experience for everybody who may come into contact with the child who endures the pain of cystic fibrosis. There are some cases that are not as severe as others are, but there are those that cannot be turned around quite as easily.

Whether it is because the treatment did not get started early enough, or the disease is out of control death is a factor that must be considered in most cases involving cystic fibrosis. Death will come to all of one day, but it may come earlier to some. The problems that some families may have with their communication can cause great pain and suffering when it comes time to dealing with the death of a loved one. “The long standing problems of communication that exist in many family groups may be accentuated when the prospect of death shows itself” (Bowers 58).

Cystic fibrosis is a disease that can take the life of some one who is very close to our hearts. Education of the treatments, side effects, and problems involving this disease is key to winning the battle against it. The more people can know about different situations that better. If there is some one in a school that has this disease try to educate the entire school about this person’s situation so that the entire student body can help in the fight. If educators and students all join in the fight, this disease can be kept down and help those afflicted lead as “normal” a life as possible.

Addison’s Disease Essay

Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs. Cortisol is in the class of hormones called glucocorticoids and affects almost every organ in the body.

One of the most important functions of cortisol is to help regulate the body’s response to stress. Cortisol is also responsible for other necessary functions including: helping to maintain blood pressure and cardiovascular functions, helping to slow the immune system’s inflammatory response, helping to balance the effects of insulin in breaking down sugars for energy, helping to regulate the metabolism of proteins, carbohydrates, and fats, and helping to maintain proper arousal of sense of well being.

The amount of cortisol is precisely balanced and regulated by the brain’s hypothalamus. Aldosterone is in a class of hormones called mineralocorticoids which is also produced by the adrenal glands. The main functions of aldosterone are to help to maintain blood pressure and helping the kidneys retain needed sodium and excrete unwanted potassium to maintain the balance of water and salt in the body. When adrenal insufficiency occurs, there are many symptoms that begin gradually and therefore the disease can go undiagnosed for years.

Some of the most common symptoms are chronic fatigue, muscle weakness, loss of appetite, and weight loss. Some symptoms that can also occur in some patients are nausea, vomiting, and diarrhea. The previously mentioned symptoms are fairly common with many different disorders however some of the most defining symptoms of Addison’s disease are low blood pressure that drops when standing, and skin changes or hyperpigmentation that is most visible on areas of the body such as scars, knees, elbows, knuckles, lips, and skin folds.

Patients can also suffer from depression, irritability, and a craving for salt, and amenorrhea in female patients. Diagnosing Addison’s disease is most accurately done with biochemical laboratory tests which consist of an injection of ACTH then monitoring the ACTH output in a patient’s urine and/or the levels of ACTH in the patient’s blood to see how the person’s body reacts to the injection. Physicians can also detect Addison’s disease by an insulin-induced hypoglycemia test, which monitors how the adrenal glands, the pituitary glands, and the hypothalamus respond to stress.

In this test the patient’s levels of blood glucose and cortisol are measured over an hour and a half following an injection of fast acting insulin. Physicians may also use test such as x-rays of the adrenal glands to check for calcium deposits that may indicate TB. Physicians my also use different imaging tools such as a CT scan to compare the size and shape of the patient’s pituitary gland. The pituitary glands of persons suffering from Addison’s disease tend to be smaller in size and misshapen than those persons who do not have Addison’s disease.

The most common treatment for Addison’s disease is hormone replacement therapy. During this treatment, patients are given cortisol and/or aldosterone hormones with similar steroids in order to make up for the hormones that the body is failing to produce on its own. Due to the fact that there is no permanent cure for Addison’s disease, once the patients are started on the therapy regimen of replacement hormones, they will more than likely stay on them for the duration of their lives.

If a patient should happen to fall into an addisonian crisis they are instructed to administer an injection of hydrocortisone, saline, and dextrose to bring them out of the crisis. The injection works to replace the cortisol, raise the blood pressure and also raise the blood sugar levels of the patient. Although Addison’s disease can be life threatening, it is possible to live a fairly normal life with the proper treatment. President John F. Kennedy was diagnosed with Addison’s disease and, with the proper treatment, was one of our countries greatest leaders.

Corneal Ulcer

Introduction

The eye is one of the vital organs in a human being. As seen on figure 1, the eye is composed of many different parts and function. The cornea is a clear covering over the colored iris and the pupil of the eye. The function of cornea is to help focus light on the retina and protect the iris, lens, etc. so that the eye can see. The cornea is best to compare with a standard contact lens. Although, the function of a cornea is to protect from harmful microorganisms, it is also vulnerable to those same unicellular organisms.

One of the major diseases affecting the cornea is a corneal ulcer. A corneal ulcer is an “non-penetrating erosion, or open sore in the outer layer of the cornea, the transparent area at the front of the eyeball” (Medlineplus). Corneal Ulcer has many different names, depending on the microorganism that causes the ulcer. Some of the major diseases include Bacterial Keratitis, Fungal Keratitis, Acanthamoeba Keratitis, and Herpes Simplex Keratitis. Bacteria, fungi, amoebae, and viruses are the prime cause for these diseases. These microorganisms settle in the cornea, grow, and feed on the cornea. This process causes a corneal ulceration. Contact lenses are the leading way these microorganisms enter the cornea (discussed later).

There contains multiple symptoms in order to identify corneal ulceration. Some of these symptoms include the following: eye redness, tearing increases, vision impairs, eye burning, itching, and photophobia (sensitive to light) start to develop (Medlineplus).
Many different methods of detecting corneal ulcer are present at the doctor’s office. Visual acuity test, Slit-lamp test, and Shirmers (tear) test are some of the tests that a doctor conducts during eye examination. Visual acuity test allows the doctor to measure a person’s vision by reading the eye chart (figure 6). A Slit-lamp is a specialized magnifying microscope in which a doctor could examine the cornea, iris, and retina. Its use is to look in the interior of the eye with the built-in laser and a camera (figure 7). Shirmers test determines whether or not there is enough tears to keep the eye moist. Another methods of detecting for corneal ulcer are Keratometry (measurement of the cornea) and scraping of the ulcer for analysis (Medlineplus).

There are many different ways to treat corneal ulcer. Many times, corneal ulcer is treated in the doctor’s office using eye drops. The eye drops are used to treat minor corneal ulcers. Depending on the microorganism that causes that corneal ulcer, many different varieties of eye drops can be used. If the ulcer is very severe, a particular surgery needs to take place. Either cornea transplant or Amniotic Membrane Transplant (AMT) needs to take place (Medlineplus). The treatments are thoroughly stated later.

Bacterial Keratitis (Figure 3)

Bacterial keratitis is caused by a variety of bacteria, and it is one of the most virulent forms of corneal ulcer. It rapidly grows on the cornea, and some bacteria destroy a cornea in 24-48 hours. Some of the most common bacterial species associates with bacterial keratitis are the following: Streptococcus, Pseudomonas, Enterobacteriaceae (including Klebsiella, Enterobacter, Serratia, and Proteus), and Staphylococcus (Murillo-Lopez).

Many species of bacteria often enter the cornea because of an abnormal tear in the corneal epithelium tissue (Murillo-Lopez). Many bacteria have structure that aids them to take control of the host cell. In the initial stage, the invasion of the bacteria causes inflammation in the infected area. As it progresses, necrosis starts to develop. Necrosis is a death of a tissue in response to a disease or an injury (Medical Dictionary). The inflammatory products (pus) diffuse and cause hypopyon. Hypopyon is accumulation of pus that appears gray fluid between the cornea and the iris (Medical Dictionary). Different bacteria also produce several enzymes, such as elastase and alkaline protease. They excrete the enzymes and cause harm to the cornea (Murillo-Lopez).

Bacterial keratitis causes other major problems to also occur in the cornea. Such problems can lead to major complications and even loss of vision. Corneal leukoma, irregular astigmatism, and corneal perforation are three of the major complications that occur during bacterial keratitis. Corneal leukoma is when scar tissue starts to form over the infected area at the end of bacterial keratitis. It can be managed through surgery such as phototherapeutic keratectomy (PTK) or penetrating keratoplasty (PK). These surgeries are done in extreme cases and will be discussed later. Irregular astigmatism is another complication that takes place when the healing is uneven. Astigmatism occurs when the light rays are focused in more than one place in the retina (Medical Dictionary). It can be resolved through contact lens, glasses, or surgery. Corneal perforation is the most dangerous complication because it threatens the loss of an eye. These three complications can occur even after bacterial keratitis begins to heal (Murillo-Lopez).

Bacterial keratitis can be caused by many different factors. By far, contact lens users are the number one cause for bacterial keratitis or any other forms of corneal ulcer. 8,000 cases per year relate contacts to bacterial keratitis. The second main cause is the lack of immunologic defenses. This lack is the secondary effect of alcoholism, malnutrition, and diabetes (Murillo-Lopez). Previous injuries or diseases in the eye play a major role in causing bacterial keratitis. In few cases the position and alteration of the eyelids also plays an important role in causing bacterial keratitis. These alterations may cause irritation in the cornea and even rupture it. Once the cornea ruptures bacteria starts to invade and cause bacterial keratitis.

A corneal specialist does many lab studies and imaging studies to find out information on the particular corneal disease. They may scrape the corneal ulcer and send it in for a culture to find out which microorganism is causing the ulcer. They use microscope slides and use Gram or Giemsa stains in order to classify the particular bacteria causing the keratitis. Doctors often take samples of eyelids, contact lens, or lens solutions to also find the origin of the keratitis. In imaging studying, doctors often use a slit-lamp or B-scan ultrasound. Slit-lamp photography is very useful in examining the progress of the keratitis (figure 7). To examine the regions that are not clearly visible, the doctor often uses B-scan ultrasound system. These studies give a better view of the factors that causes bacterial keratitis (Murillo-Lopez).

Bacterial keratitis is often treated with many different antibiotics. If the condition is very severe, it may be treated with surgery. Different species of bacteria needs different antibiotics as a cure. Bacteria are often classified as either gram positive bacteria or gram negative bacteria. Gram positive bacteria are the ones that are dyed in violet in Gram’s method. Gram negative bacteria are the ones that are dyed in pink in Gram’s method. They are dyed only as a way for classification. Certain antibiotics work on Gram positive and certain work only on Gram negative bacteria. Figure 8 shows how sensitive and resistance to antibiotics the different bacteria really are. They are categorized into Gram positive and negative bacteria and determine their resistance (Schaefer).

Antibiotics such as Cephalosporins, Chloramphenicol, Macrolides, Glycopeptides, and Fluoroquinolones are found to work in many cases dealing with bacterial keratitis (Murillo-Lopez). Of all the antibiotics, Fluoroquinolones are found the best choice in dealing with bacterial keratitis (Schaefer). A clinical and microbiological study shows that Fluoroquinolones is very effective therapy in treating bacterial keratitis. It is effective because it penetrates through the cornea without any damage and destroys both Gram positive and Gram negative bacteria. Fluoroquinolones affect the bacteria through gyrating the bacterial DNA and destroying it. Fluoroquinolones is therefore the best tool against bacterial keratitis (Schaefer).

Fungal Keratitis (Figure 4)

Fungal keratitis is a subdivision of corneal ulcer and is the number one challenge to the doctors. It is very difficult to isolate the fungi and study it. It mostly shows in people with outdoor activities, especially agriculture. The fungi that cause fungal keratitis are in the following groups: Moniliaceae (nonpigmented filamentary fungi, including Fusarium and Aspergillus species), Dematiaceae (pigmented filamentary fungi, including Curvularia and Lasiodiplodia species), and yeasts (including Candida species) (Alexandrakis). These organisms penetrate the cornea and release enzymes such as mycotoxins and proteolytic to damage the tissue (Alexandrakis).

The major symptoms that deal with fungal keratitis are the following: increase eye pain, visual acuity, and hypersensitivity to light (photophobia). Most of the fungal keratitis is related to outdoor activities. Another major cause for fungal keratitis is any previous corneal surgeries (Alexandrakis). Fungal keratitis is very common in agricultural countries such as China than in more industrialized countries (Dong). In industrialized countries, there are more people with bacterial keratitis than fungal keratitis. Fungal keratitis presents a rare chance in industrialized countries (Murray).

There are many studies done on patients to determine if the cause is a fungus. Tests, such as corneal scrapings and Gram stains are very common with any corneal ulcers. Doctors culture and classify the microorganisms and then treat it the right antibiotic. Other tests include electron microscopy, immunoflourescence staining, and polymerase chain reaction (PCR). Electron microscopy allows the doctor to look at the microorganisms even closer than regular microscopes, and it is very useful in classifying the microorganisms.

Immunoflourescence staining is very similar to gram staining. It also helps in identifying the correct microorganisms. PCR is very effective in diagnosing fungal keratitis because it has greater sensitivity and less recognition time. PCR provides patients with faster diagnosis and therefore less suffering (Alexandrakis).

Although fungal keratitis is mostly treated with antibiotics, it is sometimes very ineffective. Antibiotics such as Amphotericin B and oral fluconazole and ketocanazole are often in use at early stages. Amphotericin B is an effective drug against fungal keratitis that is caused by yeast. Oral fluconazole and ketocanazole are very effective in managing deep fungal keratitis. These treatments are often very ineffective and raise concerns. Corneal surgery and PK are very effective in treating fungal keratitis and other corneal ulcers. They are discussed later in General Treatments.

Acanthamoeba Keratitis (Figure 5)

Acanthamoeba Keratitis is another subdivision of corneal ulcer and it occurs in every part of the world. It is one of the most-feared and visual threatening that an Ophthalmologist will face. The cause of Acanthamoeba keratitis is a protozoan that is found in air and land but also in main water supplies. Their living conditions make them very resistance to many anti-microorganism agents. Ninety-three percent of all the cases of Acanthamoeba keratitis cause from contact lenses (Radford). Another main cause of this keratitis is any corneal trauma. Although this is less frequent, it still presents some threat (Wongseworaset).

The main cause for acanthamoeba keratitis is the use of contact lenses and solutions to clean contact lenses (Seal). The protozoan causes this diseases to occur. It penetrates through the cornea and starts its destruction just like bacteria. It is the prime factor for this for acanthamoeba keratitis.

Drug combinations are used in treating many different acanthamoeba keratitis. Patients are treated with intense topical propamidine and neomycin to treat the keratitis. These two drugs prove to be very effective against keratitis. Doctors try to use other methods such as PK to treat patients. Against acanthamoeba keratitis, PK proves to be a failure. It is more effective against fungi keratitis. The new protozoan feeds on the new cornea if PK is done. A continuing process is very much unsuccessful (Chynn).

Herpes Simplex Keratitis (Figure 6)

Herpes simplex virus (HSV) keratitis is one caused by a virus. HSV is a DNA based virus that normally affects humans. HSV type 1 is the virus that affects the ocular region. The type one virus is one that affects the nerve. After penetrating through epithelium, the virus heads for the nerve cell. The virus enters the nerve end and travels through the cell. The virus’ genome enters the nucleus of the neuron. The virus causes the nerve to produce lytic infection in the ocular tissues (Wang).

A person may have herpes simplex keratitis if they have the following symptoms: Pain in the eye, photophobia, blurred vision, tearing, and redness in the eye. Herpes simplex divides into four main categories: infectious epithelial keratitis, neurotrophic keratopathy, stromal keratitis, and endotheliitis (Wang). Infectious keratitis is very noticeable because the corneal vesicles and geographic ulcer (figure 6). A sign of infectious keratitis is small, raised and clear vesicles. Neurotrophic keratopathy only develops if the patient has any previous contact with HSV disease. It is not infectious but it comes from previously decreased corneal tears. Corneal stromal keratitis associates as a secondary condition infectious keratitis, neurotrophic keratopathy, and endotheliitis. Corneal stromal keratitis has two main forms: Necrotizing stromal keratitis, and ISK. Necrotizing stromal keratitis leads to thinning and perforation of cornea. ISK causes “ghost vessels” to appear in any part of the cornea (Wang). Endotheliitis may cause inflammation in the cornea of the eye (Wang).

The causes for the herpes simplex keratitis result from viral infection. Infectious epithelium keratitis causes from viral replication in the corneal epithelium tissue. Neurotrophic Keratopathy results from a tear done by any of the previous viral infections. Necrotizing stromal keratitis causes directly from corneal stroma. Endotheliitis is a reaction to an antigen, but it does harm than good.

The lab studies are the same as bacterial keratitis and fungal keratitis. Doctors often use corneal scraping to culture, examine, and identify the virus. They stain the culture using Gram dye. Viral cultures are about 70% sensitive and can identify all the subdivision of herpes simplex virus. PCR is used in both fungi keratitis and herpes simplex keratitis. It is a form of detecting and examining viruses (Wang).

Many different antiviral medications are present at this time, but it may not have a lasting effect. Drugs such as Trifluridine, Idoxuridine, Vidarabine (Vira-A), Acyclovir, and Famciclovir. All these drug perform similar functions. They have no means of destroying the virus. These drugs merely suppress the symptoms. These drugs are false enzymes that suppress all the symptoms. Corneal surgery is an option but the symptoms will return and cause same problems.

Contact Lenses

Contact Lenses has been identified as the main cause for corneal ulcer. It is the prime source for different microorganisms to grow and develop. The microorganisms trapped inside the contact lenses eventually start to grow on the cornea if the lenses are not cleaned properly. The microorganisms start to grow on the cornea and eventually cause an ulcer and ruin the vision.

On April 1991, the Food and Drug Administration (FDA) conducts a survey on different types of contact lenses and its effect on corneal ulcer. The studies involve 22,739 people in 48 groups wearing different types of contact lenses. The studies take place for eight years and the 48 groups are studied for that much time. The studies determine which brand and type of contact lenses causes corneal ulcer or other types of corneal diseases. The different contact lenses are the following: daily soft, daily rigid with gas permeable, extended soft, extended rigid with gas permeable, and aphakic extended soft.

Table one displays all the different studies and number of people in each studies. All the studies did not have equal number of people, but the average is around 500 to 700 people. Table 2 states the duration of the studies done on all the people. There are about 1,568 people with corneal ulcer in the extended wear rigid gas permeable group. This number is considering very minuscule in comparison with other contact lenses. Extended wear soft contact lenses have the biggest number of corneal ulcer. It is three and half times more than daily wear contact lenses. Extended wear soft contact lenses causes more complications than any other groups of contact lenses (MacRae).

Bacterial Keratitis, Fungal Keratitis, and Acanthaamoeba Keratitis are mainly caused by contacts lens users. Many people do not clean their contacts properly and contaminate their eyes. Bacterial keratitis is many times caused through Gram negative bacteria in soft contact lenses (Dart). In industrialized countries, fungal keratitis can only occur from contact lenses (Murray). Protozoan, which can survive in air, land, and water, causes acanthamoeba keratitis. Protozoa’s presence in “pipe” water makes it possible for protozoan to enter the contacts. They then pass on to the cornea and do some damages (seal). Contact lenses are classified to be the biggest threat in destruction of cornea.

General Treatments

There are many different treatments used for different types of keratitis. Many different generalized treatments are used in these keratitis. In the initial stages, doctors most often use antibiotics to treat these keratitis. If the condition is too severe, doctors prefer different surgeries than any other forms of treatment. Treatment such as AMT, PTK, and are used all the severe conditions.

Amniotic Membrane Transplants (AMT) is a very new way of treating severe keratitis. Keratitis is caused by bacteria, fungi, protozoan, or virus, and is very dangerous and sight threatening. The cornea becomes thin or even deteriorates. In severe conditions, the cornea is in very poor conditions and AMT is necessary. Amniotic membrane is “the innermost layer of the placenta” (Quinn). Amniotic membrane transplant helps suppress inflammation and allow the cornea to heal properly. First, the surgeon removes the contaminated corneal tissue. Then, the amniotic membrane is placed over the defected cornea. Then, a very soft contact lens is put in place for the cornea to heal. Depending on the condition of the cornea, the doctor may choose to continue with the antibiotics. In Germany, this process works on ninety percent of the patients. AMT is a great surgical treatment for the future (Quinn).

Phototherapeutic Keratectomy (PTK) is another treatment that is used in many complications. PTK uses a broadband laser to correct the cornea and several corneal tissues. It is used in corneal irregularity and other corneal problems. It gets rid of scars caused by trauma and different keratitis. It also improves vision by improving the cornea. PTK is done when the condition is not that severe. It improves the cornea and the visual (Karpecki).

Penetrating Keratoplasty (PKP) is mainly used in treating fungal keratitis. It is an effective treatment when the antibiotics do not work. This procedure requires a donor to donate the cornea. The defective cornea is completely removed. The surgeon then takes the donated cornea and places it on the patient. The cornea should be the same size in diameter and thickness. The cornea becomes part of the recipient. This technique is found very effective in fungal keratitis but not in acanthamoeba keratitis. In acanthamoeba keratitis, the protozoan still remains and affects the new cornea, creating an endless cycle (Xie).

Conclusion

Corneal Ulcer rages anywhere from a mild antibiotic to getting corneal transplants. It can be a vision threatening disease. It affects a very large number of populations in America and at international level. Corneal Ulcer is divided among four main groups: Bacterial Keratitis, Fungal Keratitis, Acanthamoeba Keratitis, and Herpes Simplex Keratitis. The main causes for all these groups are contact lenses. Antibiotics as well as surgeries can be performed to treat these diseases.

Bacterial keratitis is a form of corneal ulcer that is caused by bacteria. It is very harmful and even vision threatening because of its short time infection. It can infect the whole cornea in 24-48 hours. The bacteria in contact lenses mainly cause it. They penetrate the cornea and start to multiply and infect. Lab studies such as corneal scraping help identify the bacteria so that it can be treated. Bacteria keratitis is normally treated with an antibiotic in the doctor’s office. Severe condition may lead the doctor to perform a corneal surgery.

Fungal keratitis is a form of corneal ulcer caused by Fungi. It occurs mostly in agriculture-based countries. It is also a vision threatening disease because of harmful destruction of the cornea. Fungal keratitis is mostly caused from people working outdoors in farms. The fungi enter the eye from dust and penetrate the cornea. The only successful known treatment for fungal keratitis is PKP.

Acanthamoeba keratitis causes from a harmful protozoan. The protozoan can live in air, water, and land, and therefore it is resistant to many form of antibiotic. The protozoan can enter contact lenses from water and infect the cornea. PKP is proven very ineffective to treat this disease. This disease is often treated with combination of different antibiotics.
Herpes Simplex Keratitis is one cause from a virus. The virus enters the cornea and into the nerve cells. It then changes the nerve cell and infects internally. It takes the host’s nerve cell and manipulates it to infect the host itself. Clear vesicles on the cornea make it possible to identify the virus and treat it. There are many antibiotics but most of them treat only the symptoms and not the virus. A lot more research is being done to treat herpes simplex keratitis.

Contact lenses are the biggest threat in the development of corneal ulcer. It contains microorganisms that live on the lenses and later penetrate through the cornea. It multiplies and feed on corneal tissue. The normal symptoms are generally loss of vision and noticeable scars on the cornea. If the condition is severe, doctors often do AMT, PTK, or PKP. In AMT, the doctor transplants an amniotic membrane and seals it with a soft contact lens. It is suppose to act as a new cornea for the patient. In PTK, the doctor uses a broadband laser to correct the cornea and to get better vision. In PKP, the doctor transplants an entire cornea from a donor to the recipient. These three surgeries are very effective in treating the severe corneal ulcer.

Bibliography

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Down’s Syndrome Essay

Down’s syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder, Down’s strikes 1 out of 600 babies. In 95 percent of all cases, the disorder originates with the egg, not the sperm, and the only known risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having a baby with Down’s; at 40, her odds are 1 in 34. (Graves, 1990)

People with Down’s syndrome all have a certain degree of learning disability . This means that they develop and learn more slowly than other children. However, most children with Down’s syndrome today will walk and talk, many will read and write, go to ordinary school, and look forward to a semi- independent adult life. (Platt and Carlson, 1992) Facts on Down Syndrome *Down syndrome is not a lethal anomaly. One to two percent of persons born with this disorder have uncorrectable heart defects at birth. The average life expectancy for all others is now beyond age 55 years. Today less than 5% of persons with Down syndrome have severe-to- profound mental retardation.

The majority are on the border of mild-to-moderate mental retardation, and some are exhibiting normal IQ scores today. *The average reading level for persons with Down syndrome is 3rd grade, with many reading at 6th-12th grade levels today. *The vast majority of adults with Down syndrome today can be expected to live semi- or totally independently and many enter the work force with today’s supported employment programs and some are competitively employed.

Scientists at Norfolk’s Jones Institute for Reproductive Medicine say they have overcome most technical hurdles to screening embryos for Down syndrome and many other chromosomal defects before the embryos are implanted in a woman’s uterus. The institute, part of Eastern Virginia Medical School, hopes to try out the technique with a handful of high-risk couples who come to the institute for in-vitro fertilization, in the near future.

Eventually, all couples who go through the Jones Institute may have the option to screen for Down and most of the other conditions caused by an extra hromosome on one of 23 pairs that make up the normal complement. The technique has been developed in part to help parents avoid a difficult moral decision – what to do if the fertility techniques cause the mother to become pregnant with many children at once. At the same time, it opens up a host of other ethical questions for parents and society as a whole, say people who have children with Down.

According to Kingsley and Levitz (1994), in-vitro fertilization (IVF), is a technique in which eggs are removed from a woman’s ovaries and combined ith sperm in a dish. The resulting embryos are transplanted into the woman’s uterus. Before transplant, a single cell will be removed and exposed to probes made up of genetic material treated with fluorescent dye. Each probe has been designed to attach to a specific chromosome in the nucleus. Using a special microscope, a scientist can count the dots of various colors. Three of a specific color means that there is one extra chromosome of that type.

The institute will test five pairs that account for most chromosomal defects. The first cases will be done for free. When the procedure becomes common, the procedure will add about $2,000 to the cost of IVF, about $7,500. The Chairman of reproductive endocrinology at the Jones Institute said the procedure was developed primarily to avoid the multiple births that sometimes happen with IVF. (www #1) Most transplanted embryos, and many naturally conceived ones, never take root and grow because they have the wrong number of chromosomes.

In IVF, doctors try to improve the odds by implanting three or more, assuming that some will be lost. But sometimes, many or all of the embryos are viable. The parents then must decide – do they selectively abort some, or do they take on the hugely demanding task of having many babies at once? If doctors could screen the embryos, he said, they could limit themselves to implanting two and still enjoy a high probability that the embryos will survive. Nevertheless, the ability to screen out embryos with Down syndrome still worries families of people with the condition.

The option not to have a child with Down already exists. Tests during pregnancy can detect the condition. Parents may choose an abortion. Parents of hildren with Down syndrome, say that other parents who choose to discard an embryo in a laboratory are further removed from the implications of their decision. Doctors at the medical center say that they want very much for people confronting the decision to understand that having a child with Down syndrome can be very fulfilling.

They says the Jones Institute isn’t trying to devalue people with Down syndrome by offering the test. But they say this information has such important ramifications for the family, if we have that information, we would give it to them and they make the choice. Polar Body Analysis Physicians at Illinois Masonic Medical center have discovered that they can determine if a woman will have a baby with Down’s syndrome before she gets pregnant, provided she is willing to undergo in-vitro fertilization.

Using an experimental technique called polar body analysis, the genetic material of an egg can be checked before laboratory fertilization, helping some women avoid abortions. Chicago researchers at Masonic reported on a yearlong study involving 100 women who underwent the polar body procedure, they say that several women lready have delivered healthy babies, and more than 20 are pregnant with no sign of Down’s. But the possibility exists that the Masonic patients could have achieved the same results without genetic testing.

The majority of women who have conventional in-vitro fertilization are older and have normal pregnancies. Dr. Charles Strom, director of medical genetics at the hospital said that, polar body work gives a 35-year-old female the same chance of conceiving a chromosomally normal baby that a 21-year-old has. He said at least half the women in the in-vitro fertilization program are 35 or older. www #2) Polar body analysis hinges on basic biology. During normal development, the human egg contains a sac of excess chromosomes called the polar body before it gets ready to be fertilized by a male’s sperm.

Since this sac, is a mirror image of the egg, the genetic content of the egg itself can be determined through this procedure. (www #3) Without such testing, about 30 percent of the Down’s pregnancies resulting from in-vitro fertilization would have miscarried naturally, and others could have been picked up by the standard prenatal testing techniques, chorionic villi sampling and amniocentesis. In-vitro fertilization is expensive, labor intensive and often disappointing.

The polar body test would add another $2,000 to $2,500 to its costs. www #2) The Triple Screen The “triple screen for Down syndrome” has been in existence for over five years. However, just this past year, the American College of Obstetricians and Gynecologists officially recommended that this test be offered to all pregnant patients of all ages. This implies a legal mandate to practicing physicians who cannot afford the liability of not offering such a test after a national recommendation has been made. This “mandate” has been met with great controversy.

The “triple screen” actually involves drawing maternal blood to test for serum levels of three hormones: human chorionic gonadotropin (HCG), alphafetoprotein (AFP), and estriol (E3). The pattern of the levels of these hormones predicts the presence of Down syndrome in the fetuses in up to 60-70% of pregnancies affected. By using computer formulas, the hormonal levels can be found that are predictive for a risk of Down syndrome in the fetus that approximates 1 in 190 – which is the same risk that a pregnant woman has at age 5.

Thus, the test has been recommended now for women at all ages. If it is “positive”, it should be followed by ultrasonography and then amniocentesis to make a definitive diagnosis. (www #3) Some uses of the triple screen are seen as positive by all. If the test is negative, these results can prevent further unnecessary ultrasonography, or amniocentesis, or chorionic villus sampling – for women 35 or over; or for the woman with a previous fetus with Down syndrome. Normally these more expensive and invasive tests would have been recommended in those settings.

It is the use of the test for all pregnant women that begins to stir controversy. Only one such serum test has ever been recommended so widely before – the serum (AFP) alphafetoprotein screen. It is a screening test for multiple types of fetal defects that affect the “neural tube” in the fetus. These defects include such problems as anencephaly, holoprosencephaly, or einencephaly, as well as many levels of spina bifida. Down syndrome is certainly not the same as the wide range of anomalies termed “neural tube defects,” but the Triple Screen makes it seem an equal to many lethal defects.

The triple screen actually detects many more fetal anomalies than Down syndrome, including the AFP-related anomalies mentioned above and several lethal trisomies, such as Trisomy 18. The Triple Screen is called a screen “for Down syndrome” for marketing reasons, as much as for scientific accuracy. The Triple Screen is, in fact, a very poor screen, identifying only about 65% of fetuses with Down syndrome in utero. No other screen with such low validity has been universally recommended for all pregnant women. Such a recommendation means billions of dollars for the genetics industry and the researchers involved. (www #3)

The Black Death

The Black Death had profound effects on Medieval Europe. Although most people did not realize it at the time, the Black Death had not only marked the end of one age but it also denoted the beginning of a new one, namely the Renaissance (“Effects” 1). Between 1339 and 1351a. d, a pandemic of plague called the Black Death, traveled from China to Europe affecting the importance of cities, creating economic and demographic crises, as well as political dislocation and realignment, and bringing about powerful new currents in culture and religion.

In the beginning, the Italian town of Genoa was one of the busiest ports in Europe. Ships sailed from there to trade all over the Mediterranean Sea. In October of 1347, 12 merchant ships sailed from Caffa to Italy (“Arrival” 1). A strange disease had infected the crew of these ships. Dying bodies lay aboard the ships. City officials, afraid that the disease might spread, issued an order that no person or piece of merchandise was to leave the ships. They even forbade medical treatment for the sick sailors and passengers. The disease still spread.

The officials had not considered that the rats from the ships were able to leave the ships by crawling along the ropes that were tied to the ships. From Italy, the disease spread all over Europe, traveling along the major trade routes. The rats were responsible for carrying the disease, which was transmitted by fleas from infected rats. The fleas drank the rats’ blood that carried the bacteria. The bacteria multiplied in the flea’s gut. While the fleas gut was clogged with bacteria, the flea bit the human and regurgitated blood into the wound (Transmitted” 2).

The Black Death came in 3 forms: the bubonic, pneumonic, and septicemic. Each different from of the plague killed people in a vicious way. All forms were caused by a bacterium called Yersinia pestis (“Forms” 1). The bubonic plague was the most commonly seen form of the Black Death. Which had a mortality rate of 30-70%. The symptoms were enlarged and inflamed lymph nodes (around armpits, neck and groin). The term “bubonic” refers to the characteristic bubo or enlarged lymphatic gland. Victims were subject to headaches, nausea, aching joints, fever of 101-105 degrees, vomiting, and a general feeling of illness.

Symptoms took from 1-7 days to appear (“Forms” 2). The pneumonic plague was the second most commonly seen form of the Black Death. The pneumonic and the septicemic plague were probably seen less than the bubonic plague because the victims often died before they could reach other places (this was caused by the inefficiency of transportation). The mortality rate for the pneumonic plague was 90-95%; (if treated today the mortality rate would be 5-10%). The pneumonic plague infected the lungs. Symptoms include slimy sputum; saliva mixed with mucus exerted from the respiratory system, tinted with blood.

As the disease progressed, the sputum became free flowing and bright red. Symptoms took 1-7 days to appear. This disease could only be transmitted through the air, by someone’s cough (“Forms” 2). Finally the septicemic plague was the most rare form of all. The mortality was close to 100 %. Symptoms, which took 1-7 days to appear, were high fever and skin turning deep shades of purple (“Forms 2”). The Black Death struck the European people without warning. Physicians and philosophers harmed rather than helped. They did not understand the causes of infectious diseases nor how they spread.

It is no wonder that they looked to priests and storytellers, rather than doctors, for answers. They did not have the ability to understand where this sudden cruel death had come from. And they did not know whether it would never go away (“Causes” 1). The most common belief was that God, being a punishment for the sin people had committed sent the plague. Even innocent people, such as infants, had to suffer for the horrible crimes of others. The church was quick to condemn gambling, excessive drinking, the immodesty of women, and the laziness of pheasants.

Guilt lay upon every man’s heart. Therefore, it was only natural that the first measures taken against the plague were the confession of all sins and prayer for forgiveness (“Punishment”2). Praying seemed to have very little effect. Therefore, many believed there was a necessary for extreme measures. A group of men decided to punish themselves in order to persuade God to forgive them. Each of theses “Flagellants” would carry a wooden stick with a couple of leather tongs attached to one end. At the end of each tong would be a sharp spike, about an inch in length.

The flagellants would walk from town to town. Once they would arrive in a village or city, they would go to a public place where there were a lot of people, such as a market or store. After they found that public place, they would start beating themselves with their wooden sticks, hitting their backs until blood flowed freely. The townspeople would always welcome them and the flagellants would sometimes encourage the townspeople to join their beatings. It was common for people to die in these beatings.

The flagellants would then leave the town after a few days, usually taking a few locals to join their group. The group’s numbers grew rapidly from 200-300 to 1000. They did more harm rather than help. The only thing they were doing was carrying the disease with them only spreading up the process (“Flagellation” 1). Many people believed in a legendary witch called the Plague Maiden. She was very beautiful and carried around her neck a red scarf. It was said that she traveled from town to town passing by each house.

When she waved her red scarf in front of a house window, the house would become infected. The legend also told that a man waited all night from the witch to arrive and when she did, he cut off her hand with a sword. It was said that this man was the last to die of the plague in his town (“Plague maiden 2”). In Europe the Jews were easy targets to blame. It was a common belief that the Jews were poisoning the water supply. In some towns, Jews were rounded up and burned to death. They also were accused of practicing witchcraft consequently also suffering the anger of mob violence.

There were massacres, especially in cities along the Rhine River, and many more cases of the Jews being expelled from the town. A few towns actually protected their Jews, but the Jews were being expelled generally from Western Europe during the 14th century, and they were tolerated in Poland and Lithuania. So when the persecutions associated with the Black Death a rose, some Jews simply migrated eastward and did not return (“Jews 1”). The effects that the Black Death had on Europe were very profound. The population of Europe lost about one- third of its people.

These general numbers disguise the uneven nature of the epidemic. Some areas suffered very little, some suffered far more. Some examples are as follows 45% and 75% of Florence died in a single year. One- third died in the first 6 months. Its entire economic system collapsed for a time. In Venice, 60% died over the course of 18 months, 500-600 a day at the height. Certain professions suffered higher mortality, especially whose duties brought them into contact with the sick, doctors and clergy. In Montpellier, only seven of 140 Dominican friars survived.

In Perpignan, only one of 9 physicians survived, and 2 of 18 barber surgeon (“Population loss” 1). The death rate of Auignon was 50% and was even higher among the clergy. One- third of the cardinals died. Clement VI had to concentrate the Rhone River so corpses could be sunken it, for there was not time or room to bury them. Long term population loss is also instructive. Urban populations recovered quickly, in some cases within a couple of years, though immigration from the countryside because of increased opportunities in the cities.

Hardest hit was special groups, such as friars, who took a couple of generations to recover. In many areas, pre-plague population levels were not reached until the 1500’s, in a few not until the 1600. This is one reason why the Black Death marks a dividing line between the central Middle Ages, with medieval culture in full bloom and at its greatest strength, and the later Middle Ages. The later period was one of chronically reduced population (“Population loss” 2). Prior to its arrival, life was difficult for the ordinary man, who was practically enslaved by his landlord.

Additionally, living conditions were very unsanitary. When the plague was brought to Europe, this state of existence promoted the spreading of this new disease and changed the way people, both rich and poor, dealt with their lives. After many years, when this epidemic finally ended, living standards had changes dramatically, Immense effects could be seen in culture, spirituality, and especially economics. Society was never to be the same again; life had changed forever. (“Effects” 3) Eventually, the plague did disappear, but it left Europe with great cultural changes.

Art, in other cases, was most effected by the plague. During the pre-plague times, Nobel lords were shown in full health, in their best clothes, and armor, holding their swards. Afterwards, half-decomposed bodies with parts of skeleton clearly visible were shown. The clothes draping the body were old dirty rags and some sculptures showed worms and snails borrowing in rotten flesh (“Art” 1). After the plague the art was obsessive with cruel aspects of pain and suffering. Painting focused on skeletons mixed in with men in every day life. It was a very cruel sort of art.

Literature was also effected by the plague. It became more dark and somber. Now that most of the stony writers and tellers died from the plague all that was talked about were dead bodies and poems of death and stories were told about the plague. In architecture, many of those with the skill to build died from the plague. Many buildings that were started before the plague were never finished. Universities were abandoned. In Europe Education Standards were incredibly low.

The whole community of scholars suffered as universities and schools were closed or even abandoned. of 40 Professors at Cambridge died. French was commonly spoken among the education in England, The death of numerous French teachers, however, helped the English language to gain over French in Britain. (“Art”1) Cities were hit had hard by the plague, Financial businesses were disrupted as debtors died and their creditors found themselves without recourse. Not only had the creditor died, his who family had died with him and many of his friends. There was simply no one to collect from (“Disruption” 1).

Construction projects were stopped or even abandoned, guilds lost their craftsmen, without the ability to replace them, important machinery broke, and those with the ability to repair them had died (“Effects”). The labor shortage was very severe, and consequently, wages rose. Because of the mortality, there was an over supply of goods, and prices dropped. Whole families died, with not heirs, their houses standing empty. The countryside faced a short-term shortage of labor. They tried to get more forced labor from them, as there were fewer peasants to be had. Peasant in many areas began to demand fairer treatment.

Lastly, the change in spirituality was one of the major effects of the plague. The Black Death left survivors mourning, depressed, and fearful of its return (“Economy” 1) One of the groups that suffered the most was the Christian Church. It lasts prestige, spiritual authority, and leadership over the people. The church promised cures, treatment, and an explanation for the plague. They said it was God’s will, but the reason for this awful punishment was unknown. People wanted answers, but the priests and bishops didn’t have anything to say. The people abandoned their Christian duties and fled.

People prayed to God and begged for forgiveness. After the plague ended, angry and frustrated villagers started to revolt against the church, this caused the churches to be abandoned (“Effects” 2). The Black Death changed European history in many ways. Its fatal symptoms took many human lives, and its influenced carried over into many areas of society. People suffered religiously because the disease brought out the darker side of life and made them question God. Europe would not be the same today without these changes brought on through the devastation of the Black Death.

Tay-Sachs disease

A girl is born without Tay-Sachs disease, a devasting genetic disorder that has decimated a lot of babies worldwide. A leukemia patient has defective bone marrow replaced with healthy bone marrow that was cloned from tissue from her own cells. These futuristic scenarios are not part of the debate for genetic engineering but they should be. Many people are afraid that somebody will clone Hitler or some evil person, but that is far from the fact. Genetic engineering can be used to make many aspects of human life better, including saving lives.

The rapid development of humanitys ability to control the gene will ventually lead to a promising future for the entire planet as a whole. Genetic engineering resulted not from the belief that nature should be manipulated and perfected by humanity. Rather, its principle aim is, as of any other technology, to improve the quality of life for the people of this planet. Therefore, it is necessary to weigh the benefits and consequences of this relatively recent breakthrough and determine in which ways it can be used to humanitys best advantage.

This speech will investigate the ways in which genetic engineering affects two important areas in todays society. The first one will be the improvement of the worlds agricultural techniques. With an ever-increasing growth in world population, the Earths resources are constantly becoming scarce. The advent of genetic engineering may be used to avert the occurrence of worldwide famine and starvation. The second one investigated will be in the field of medical development and study. Currently, genetic diseases are decimating the worlds population. Thousands of people have already died without a single worthy treatment or cure.

Worldwide acceptance and support of his technology would aid in our battle against these diseases. According to the United Nations medium projections issued in 1990 (Population Council, 1994), the global population will be increasing from 5. 3 billion in 1990 to 8. 5 billion in the year 2025. Consequently, there will be a much greater need for food, therefore accelerating further the consumption of Earths resources. To achieve this, it would be necessary to extensively use agricultural technology. However our current use of pesticides and other chemical fertilizers pose a serious evironmental threat.

Using genetic engineering would ultimately reduce the amount of potentially dangerous chemical substances we introduce into the environment. It would as well make food production more efficient therefore reducing distribution costs. Thanks to genetic engineering, Geneticists are currently able to create a resistant strain of the ordinary supermarket tomato (Pen*censored*, 1992). Using a technique called antisense genetics, the gene that is responsible for allowing tomatoes to soften and ripen can be transformed to produce the opposite effect.

The billions of tomatoes that circulating all round the world can therefore be made to resist the normal abuse of shipping and transport, and also having a longer shelf life. This practice could be applied to all other sorts of fruits and vegetables. This would allow for less of a waste of food therefore, putting less of a strain on human resources. Diseases and genetic defects have always been a major cause of concern for our society. Antibiotics, which used to be successful against pathogens, are now starting to become useless since the viruses have become resistant to the medications administered.

Therefore a proposed alternative is the use of genetic ngineering or more specifically, gene therapy, to cure diseases at the DNA level. This method is known as biotechnology and can aid in the treatment of diseases like a hormone defiency. Currently, a common diagnostic practice with unborn fetuses is the process of genetic screening. A needle is inserted into the uterus of the pregnant woman and is used to extract some amniotic fluid. As a result, several hundred diseases and defects can be diagnosed before birth (Office of Technology, 1990). Therefore parents can choose to have an abortion if they do not want their child to have a defect.

For over two centuries, accination has changed very little from the time of Edward Jenner, the first physician to have ever tried the method on a human being (Yong Kang, 1989). But this process has now become obsolete because by killing the virus, it is more likely to mutate into a more resistant strain for which is incurable. As a result, every new strain would require a new vaccine costing more money and time. A new method of producing vaccines is currently being studied and involves recombining the DNA of the virus so that it will not be able to reproduce.

This would be as effective as a regular vaccine except without the chance of utation. If genetic engineering becomes unrestricted the world would become a better place. Worldwide famine and starvation could possibly end through the use of technology in the agriculture field. The death rate would go down and very dramatically in Third World countries. We could see the end of diseases like AIDS and conditions like hemophilia. If you are interested in supporting genetic engineering you can write to your congressman and ask him or her to vote down the restrictions on genetic engineering. You can also make a petition a send it to your governor.

Cystic Fibrosis or CF

According to old northern European folklore, a child that tasted salty when kissed upon the forehead was bewitched and would soon die. Today we know the reason -the genetic disease, cystic fibrosis or CF. It is a chronic, progressive disease and the most common, fatal inherited disorder in the United States. About 30,000 Americans suffer from cystic fibrosis, and 2500 babies are born in the U. S. with the disease each year. While all races and ethnic groups may suffer from the disease, it occurs most often in whites whose ancestors came from northern Europe.

About 1 in every 20 Americans is an unaffected carrier of the disease because they have one abnormal CF gene. Patients with CF produce a thick, sticky mucus; much thicker than a healthy person. The buildup of this mucus clogs ducts and body tubes, leading to chronic tissue inflammation and the replacement of injured cells with scar tissue which blocks the airways of the lungs and ducts in the pancreas and liver. In the lungs, this mucus impairs breathing and causes chronic bacterial infections. Lung disease is the main cause of death from cystic fibrosis.

Occlusion of ducts in the pancreas prevents digestive enzymes produced by the pancreas from reaching the intestines where they are required for proper digestion. Cirrhosis of the liver and male infertility are also associated with the disease. Until recently, most of the information known about cystic fibrosis was gained from observation. In 1938, Dorothy H. Anderson of Columbia University, provided the first descriptions of body changes produced by CF. From autopsies performed on infants and children, she described destruction of the lungs and pancreas.

A decade later, physicians had connected the clogged ducts and passageways to the bodys inability to digest nutrients and respiratory failure. By 1946, studies about family patterns of disease inheritance led researchers to realize that cystic fibrosis was probably caused by a single gene mutation. It is called an autosomal recessive condition. The function of most genes is to instruct the cells to make particular proteins, most of which are needed to keep us alive. If the basic building blocks of a gene (called base pairs) are altered or mutated, the protein that the gene codes for will be defective or not produced at all.

Researchers concluded that if a child inherited an altered copy of the gene from both parents (making no normal molecules of the protein coded for by that gene), the child became sick; however, a good gene from one parent and an altered gene from the other parent did not produce the disease. This means that each time two carriers produce a child, there is a 25 percent chance the child will have CF; a 50 percent chance the child will be a carrier; and a 25 percent chance the child will be a non-carrier (completely free of the altered gene).

About seven years after the inheritance pattern was discovered, a New York City heat wave caused doctors to see a large number of children with cystic fibrosis who were dehydrated. At Columbia University, researchers concluded that children with CF lose an excessive amount of salt in their sweat. While the reason for the salty skin was still a mystery, the information became the basis for the test used to tell if a child has cystic fibrosis: measurement of the salt content in sweat. In 1985, Paul Quinton answered the salty skin question.

Sweat, which is normally produced at the base of the sweat gland, has high concentrations of sodium and chloride ions (the ingredients in salt). As sweat flows to the skin surface the ions escape, through channels, to the epithelial tissue surrounding the glands. The sweat that emerges to cool the skin is then only slightly salty. In patients with cystic fibrosis, the epithelial tissue was impermeable to chloride. The chloride-transporting channel in the epithelial tissue did not function causing the sweat to remain very salty.

In addition, the salt build-up caused water to be drawn into these cells by osmosis, making the mucus very thick. In 1989, a team of scientists isolated the gene (located on chromosome 7) that produces the protein responsible for the movement of chloride ions through the cell membrane. They named the protein cystic fibrosis transmembrane conductance regulator or CFTR. This protein forms a channel in the cell membrane to transport chloride. The team also found that the gene mutation involved in 70-80 percent of cystic fibrosis cases was due to the deletion of three base pairs from the gene.

Because of this base pairs deletion, the CFTR protein produced by the defective gene, lacks a single amino acid: phenylalanine at position 508. The mutated protein is called deltaF508 CFTR. Various other mutations on this gene- over 400 at last count- seem to be responsible for the remaining cystic fibrosis cases. Since these latest discoveries, CF research has greatly increased. Cystic fibrosis was once considered a fatal childhood disease. Thirty years ago the median life expectancy was 8 years. Today better treatment and drugs have increased the life span of CF patients to 29 years.

Antibiotics, enzyme supplements, vitamins, special enriched diets, bronchodialators, mucolytics, and decongestants have all proven helpful in treating the disease. Physical therapy, consisting of bronchial, or postural drainage procedures, and exercise are also helpful. INS365, a new drug, is being studied for its ability to stimulate cells to secrete chloride. This in turn would lead to mucus that is thinner and less sticky. One treatment strategy, now in clinical trials, is to correct the protein product of the gene.

The CF sufferer would actually be given the active form of the protein. While the length and quality of a CF victims life has been improved, there is still no cure. Those who suffer from cystic fibrosis face a new set of problems- going to college, getting a job, finding health insurance, and building permanent relationships-while still maintaining medications and treatments. Since cystic fibrosis is a genetic disease, the best hope for a future cure is through gene therapy at an early age. Gene therapy could repair or replace the defective gene.

In 1990, scientists were able to grow cells from the nasal passages of CF patients. By introducing the normal gene into these cells, researchers corrected the cells chloride transport abnormality. In 1993, researchers modified a common cold virus to act as a delivery vehicle-carrying the genes to the CF cells in the respiratory airways of patients. Several studies, supported by the Cystic Fibrosis Foundation, are underway to test new gene delivery methods. Hopefully, a cure for CF is not far away.

Alzeimer disease in America

Alzeimer (AD) is one of the most fatal disease in America. It strikes More than 4 millions of personne. Unfortunately, it also attacks a lot of loved one. And these loved ones are our parents, husband, wifes, Brother or sisters. And we have to take care of them. But how can we deal with a personne who cant remember our name even though he raised us? Before I answer that question, I will talk about how AD Stikes us. Alzeheimer is characterized by amyloid plaques and neurofibrillary tangles.

The nerofibryllary tangles are fibers twisted in the neurons, nd by so, killing them. Usually AD is contracted by genetics factors finded on some chromosomes. But it may been caused by injuries, strokes, exposure to toxic substances, ethnicity, and bacterial infe- ction. The plaques, formed in the brain areas affetcts the memory of the patient. They are loated outside and around neurons as dense de- posits of an amyloid protein. According to researchers, amloid is a cause of Alzheimer. Even thougt there is no cure for AD, it exist a number of treat- Ment.

If you suspect a patient of AD, ask him an attention question, like, “why people who lives in glasses houses shouldnt throw rocks. ” If he fails to answer, he might have Alzheimer disease and should be refered to a treatment.. There is 3 stages in AD. Mild: the patient might have trouble finding his words r forget familiar names. Moderate: he will be desoriented, paranoid and/or desoriented. He will also become urine-incontinent. And finally late: he will be innable to speak intelligibly, swallowing problems, and have some fecal incontinence.

Now, lets return to our initial question, how to deal with personne Suffering from AD. People suffering from Alzheimer needs a lot of support. They frequentely loose appetites because they forget to eat The food doesnt look appetazing. We should always give to patient suffering from AD finger food and surve theme one bye one. We should also distract them with simple amusements but not for more then 30 minutes. They might feel that there steel a mother of 28 years old and think that there kids will come back from school at three.

They will want to leave to there houses to prepeare there arrival. Even thougt there ar 82 years old. You must then walk with her and aknowledge that small child should not wander around in the street alone. Encourage her of talking about her kids and reminder her of her age and her kids might be old enough to make themself there own afternoon snacks. I found that the article was the best source i ever had. It had a complete explanation of AD and showed me a side of it i didnt knew. Now i really know how to deal with a personne suffering from AD in a hospital.

They also gaved me situation and how to deal with theme for exemple, if the patient doesn’t want to go bathing if he has some eatting difficulties or suffer incotinence who is, everybody know, one of the most embarrassing problems. I also really enjoyed readding it because Alzheimer is a disease that really intrigued me for years. It was never really clear in my mind how do we contracted it. I worked with a lot of people who sufferd from terrible rampage but I never could have understod there attitude nor the way they reacted. I really felt a lot of paine for them.

That article would be perfect for a first year student in nursing. It gives you tips of how to deal with situations involving AD infected patients without shocked him and how to be really comprehensive. Like I was saying in my introduction, I had my hands full in the Library but I never regreted chosing that topic for my essay. As a nurse, most of my patient might have AD. I wanted to Be prepared fore my beginning days and i feel that i will be. AD is a terrible disease and people suffering from it deserve a lot of help. I wish I will be there for them.

The Main Limitations Suffered By Those With Chronic

One of the major public health problems facing Australia today is Asthma. It is disturbing that there has been an apparent increase in its prevalence and severity, and increased rates of hospital admissions. (E. J. Comino, 1996) For the diagnosed patient, the degree to which he or she suffers is related to severity of the condition, compliance with recommendations by medical experts, the immediate environment and the effectiveness of education programs. Like other major health problems, asthma has varying degrees of symptoms. As such, the degree and frequency of the symptoms limits many aspects of the asthmatics life.

To describe the main limitations suffered by those with chronic asthma, asthma must be defined. Asthma is a condition whereby the sufferer has difficulty breathing due to widespread narrowing of the airways of the lungs. This narrowing can be caused by a local inflammation of the air-ways, muscle contraction or the production of excess mucus with in bronchi. (R. Roberts, 1996) Most common is bronchial asthma. Medical definitions of asthma suggest that environmental triggers can substantially contribute to the occurrence of an asthma attack.

The review of asthma in Victoria (1988) by the Asthma Foundation of Victoria outlined infection, exercise, climatic conditions, exposure to airborne irritants and emotional upsets as the main trigger factors. However, doctors use a general classification to identify a patients pattern of asthmaclassifying people who experience some symptoms of asthma on most days as having a chronic asthma condition. The classification system also extends to the categories of children, occupational asthma and asthma in later life.

Usually regular medication is required to keep the lungs functioning as normally as possible. Some chronic asthmatics have severe symptoms over a long period of time and may require long term or indefinite medication to be able to lead a normal life. (Lane, 1996) The most obvious limitations suffered relate to the asthmatics physiological dysfunction. However, physiological dysfunction can in turn contribute to greater social and psychological limitations. This area is related more specifically to quality of life and morbidity and will be discussed further on.

The main physiological limitation is related to the presence of the bronchial narrowing slowing the movement of air into and out of the lungs. Thus, there is difficulty both breathing in and out. Asthmatics commonly describe the feeling – tightness of the chest, congestion and wheezing. Although these symptoms can commonly occur in other chest diseases, in asthma it is a characteristic that can occur in an aggravated attack. This may be either brief episodes of chest tightness lasting a matter of minutes or a prolonged episode of wheezing lasting up to and hour, which can merge into a full blown attack of asthma.

Other physiological limitations relate to the sufferers sensitivity to known triggers factors and the consequential effect on their daily functioning. The Global Strategy for Asthma Management and Prevention (1995) states that triggers are risk factors that cause asthma exacerbation’s by inducing inflammation or provoking bronchio-constriction. This report also describes the main triggers as allergens, air pollutants, respiratory infections, exercise and hyperventilation, weather changes, allergies to foods, additives and drugs, and emotional stress.

For example it is well established that viral respiratory infections can exacerbate asthma, especially in children under the age of 10. (Busse, 1993) Because the triggers may vary from person to person and from time to time, it is important to take the sufferers natural history into account and identify each individuals triggers. Therefore, an individuals identified trigger can restrict the sufferers ability to function normally. For example – an asthmatic child may try to avoid exercise for fear that it may trigger an asthmatic attack.

This may in turn limit the sufferers physiological development over the long term and hence further contribute to the problem. (Global Strategy, 1995) Some psychological and social problems can also be considered as a consequence of the interaction with physiological limitations. The Global Strategy for Asthma Management and Prevention (1995) states that “asthma is a chronic disorder that can place considerable restrictions on the physical, emotional, and social aspects of the lives of patients and may have an impact on their careers”.

Chronic asthma sufferers have to live with the need for treatment and with the limitations that having asthma places on their everyday lives. It is in this context that the asthmatics life area’s are most likely to be handicapped. In general, the chronic asthmatics activity choices are particularly handicapped. . especially physical education. Exercise incites airflow limitation in most children and young adults who have asthma. Exercise appears to be a specific stimulus for people with asthma because it seldom leads to airflow limitation in people without asthma.

More specifically sports where sustained effort is needed over a considerable period (eg long distance running) are not recommended. From a psychological point of view, the development of a positive sense of self (ie self-esteem) can be adversely affected by asthma. In one study, nearly 41 percent of parents of children with asthma said that asthma caused their children to feel self-pity. These children also were found to have low self-esteem as well as poor relationships with their peers. (Charmaz, 1983) For an adult, occupation and social life may be handicapped.

A comparative study from Edinburgh (1996) between asthmatics and people with other forms of physical disability were found to have similar levels of anxiety or neuroticism. It was found most asthmatics exhibited varying levels of anxiety in relation to their beliefs and, in particular, their constant fear of another attack and anxiety over school and work prospects. (Lane, 1996). Similarly, fear also plays a predominant role in children who suffer from asthma. with one in four Victorian children fearing not being able to breathe as a result of asthma (King, 1988).

Furthermore, the relationship between asthma and emotional and /or severe behavior problems is documented in a 1995 study by R,Bussing et al. In particular they tend to suffer from limited school functioning, inability to attend school and need for special school or special classes. In Australia, school loss caused by asthma accounted for approximately 965,000 days annually. (Aust Bureau Statistics, 1991) In particular poor academic performance and greater risk to learning difficulties were found to be the greatest negative consequences. (Fowler, 1992)

The asthma sufferer can have a limited choice of occupations, because they are exposed to an increasingly large number of potential irritants in their working lives. In particular if specific allergies are known to exist then an occupation that exposes them to the allergens must be avoided. For instance, those sensitive to pollen should not become gardeners or those who have recurrent shortness of breath, should not become marine biologists. (Lane, 1996) 3. What can an individual do to prevent the occurrence of unnecessary as asthma attacks, or to minimize the seriousness of those that do occur?

In 1989 an Australian Asthma management (AMP) plan was set up as a guideline for health professionals. The guideline was set up as a common consensus among health experts to help tackle the irregular diagnosis and treatment of asthma. More particularly, to help combat the increase of asthma induced admissions to hospitals due the occurrence of unnecessary asthma attacks. This report outlined 6 important steps to aid the doctor and the sufferer as to the basis of good asthma management.

They include (1) Assess the severity of asthma; (2) achieve best lung function (3) maintain best lung function by identifying and avoiding triggers; (4) maintain best lung function with optimal medication; (5) develop an action plan; and (6) educate and review regularly. (Woolcock, 1989) Current research by Beilby (1997) highlighted that having an action plan can play a vital role in preventing hospital admissions and death from asthma. An asthma action plan is a co-ordinated method of management that covers all aspects a persons asthma – medication, triggers factors, lung function measurements, etc.

To ensure greater adherence, both the patient and the doctor should fill out an asthma management chart together. It encourages self management and focuses on the importance of identifying the main trigger factors and monitoring the warning signs of an asthma attack. Essentially this involves a regular check on airway function by the use of a peak flow meter and the additional measurement of lung capacity twice a day those with severe asthma. Use of symptomatic (quick working) medication such the bronchodilator ventolin aerosol type to maintain best lung function, is recommended to reduce the seriousness of an acute attack.

Doctors prescribe preventative medication such as Intal (sodium cromogylcate), anti-allergy injections and inhaled steroids for people who have severe asthma. Long term use of preventative medicine is used in conjunction with bronchodilators. After several months on preventative medicine, asthmatics find they are able to reduce their use of bronchodilators dramatically. (Prendergast, 1991) Identifying trigger factors such as allergens, infection, exercise, weather changes and emotional stress is also important.

The use of a bronchodilator or Intal, before being exposed to an identified trigger factor, can reduce the likelihood of an asthmatic reaction. The asthma management chart also describes what to do if following warning signs are observed : (1) the bronchodilator doesn’t bring expected relief, (2) a decrease in the peak expiratory flow, (3) Increased breathlessness and variation in peak flow rates during the day, (4) more frequent wheezing and a persistent dry cough and (4) disturbed sleep. (Prendergast, 1991)

Asthmatics who live in highly polluted areas and are surrounded by electrical appliances, high tech equipment and power lines can benefit from air ionisers and a purifiers. Individuals can also prescribe to alternative treatment (for instance the Buteyko method), various breathing exercises, physical exercise (such as swimming), a healthy diet, and natural remedies such a homeopathic and acupuncture. It has been found that these treatments should complement orthodox medication and also help reduce the reliance on it. Roberts (1996) suggest that there is evidence that the Buteyko method is effective in treating chronic asthma.

Devised by professor Beteyko of Siberia, this program consists of specific relaxation techniques and shallow breathing to correct breathlessness and wheezing. For those who are prone to exercise induced asthma choosing the right type of exercise is important particularly choosing a sport that requires longer and slower breathing and/or short bursts of effort. Examples include gymnastics, cricket and basketball. Swimming with its controlled breathing pattern is also recommended as it promotes chest development, flexibility and, therefore better breathing. (Roberts, 1996)

There has been extensive research into new drug treatments of asthma by pharmaceutical companies and universities over the last 20 years. One such new effective drug to emerge is a Leukotiene receptor antagonists (LTRA). It was recently introduced into Australia this year and the USA 3 years ago. In people with asthma, leukotrienes play a key role in causing the inflammation, bronchoconstriction, and mucous production that lead to coughing, wheezing, and shortness of breath. LTRA’s prevent leukotrienes from attaching to the proinflammatory receptors on circulating and lung cells, which contribute to asthma symptoms.

Leukotriene research is the direct result of a Nobel Prize-winning discovery made by scientist Beng Samuelsson in 1979. (Lipworth, 1999) However, there needs to be further research into the efficacy and its side effects. 4. How effective are the educational programs undertaken by organizations such as Asthma Victoria? Current statistics indicate that there has been a reduction of asthma mortality and morbidity in Australia over the past 10 years. The fall in deaths from 964 in 1989 to 715 in 1997 may indicate that some of Australia’s strategies for asthma management have been successful. (NAC, 1998)

The Australian Asthma Management Program provides a systematic and methodical approach to asthma care. Nevertheless, it was not formulated as an evidence based document. This means that its recommendations (devised in 1989) were not based on systematic reviews or had been ranked according to the strength supporting them. However, today there have been a number of studies reviewing the effectiveness of the AMP. One such report by the National Asthma Campaign (1999), commented on the crucial role of education in improving the management of asthma rather than the token gesture of handing over a leaflet at the end of a patient consultation.

This was in relation to the 6th step – educate and review regularly and highlights the importance of education programs undertaken by organizations such as the Australian National Asthma Campaign, Asthma Victoria, the Thoracic society of Australia and New Zealand and other relevant educators. The 1990 and 1993 national surveys of 22,000 adults and 16,000 children conducted by the National Asthma Campaign (NAC) showed improved asthma management practices in the three year period.

Although the changes are not necessary the direct result of the National Asthma Campaign, it is considered to be consistent with the campaign and other agencies having been successful in promoting awareness and optimal management of asthma. (Comino, 1996) One of the goals of the NAC was to reduce the reliance on daily medication and hence increase the use of preventative therapy (such as inhaled corcosteroids) for patients with moderate or severe asthma; together with written action plans based on symptom severity and measurements of lung function.

Use of preventative medication was found to have increased among both children and adults. The study highlighted also that there was a significant decline in the use of daily inhaled bronchodilator drugs among children and also inappropriate medications such as antibiotics and oral prescriptions. In addition this study also showed that in 1993 survey, doctors measured lung function significantly more often than in 1990; with similar increases observed in the use of peak flow meters and written action plans.

Comino, 1996) These results suggest that the Australian Asthma Management Programs are relatively effective. However, the study also points to the fact that limitations still exist. In particular there is a lack of communication and joint management strategies between specialists and GP’s, hospitals and the community; whilst the use of action plans still has considerable room for further improvement. Nonetheless, not all studies on education programs show positive conclusions.

A British research paper Greenwich Asthma Study’ of 1291 asthmatics conducted in 1993 and 1996 found that their model of service delivery was not effective in improving the outcome of asthma in the community. The intervention program used was based on the British Thoracic Society’s guidelines and was conducted by specialist nurses in community based settings. There were similarities in the methodology and intervention measurement. However, they concluded that no evidence was found for an improvement in asthma related quality of life among newly surveyed patients in intervention practices compared with control practices.

Premaratne, 1999) Altogether this highlights that the variability of the asthma educational programs undertaken by various major organisations make it difficult to comparatively evaluate. A comprehensive world wide study, Objectives, methods and content of patient education programs for adults with asthma: systematic review of studies published between 1979 and 1998′ found that there was great difficulty in identifying the most effective components of asthma educational programs.

The main reason cited was that education programs for adults with asthma vary widely. Most reports did not specify the general (56%) and educational objectives (60%) of the intervention. Important training characteristics were often not available: duration of education (45%) and number of sessions (22%), who delivered education (15%), whether training was conducted in groups or was individualised (28%). (Sudre, 1999) Such variability suggests a lack of consensus on what educational components actually work.

With insufficient documentation of asthma education programs for adults, replication is limited. In conclusion there is some evidence to suggest that written treatment management plans are most effective in improving the quality of life for people with asthma. In the Australian context the National Asthma Campaign has clearly documented program goals. However, the limitations lie in its lack of empirical evidence. In addition the reliability of the research documents in general has been brought into question by the Sudre (1999) study.

Therefore it is difficult to demonstrate the most effective management plan for asthma sufferers. This issue is currently being addressed by the National Asthma Campaign and the Asthma Foundation of Victoria. The Asthma foundation is currently conducting a study into the effectiveness of their schools based program. Hopefully, this and other studies will help fill the gap associated with the effectiveness of asthma education programs. And hence secure the continuation and development of asthma education in the community.

Cystic fibrosis essay

Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common genetic disorder amongst Caucasians. Cystic fibrosis affects about one in 2,500 people, with one in twenty five being a heterozygote. With the use of antibiotics, the life span of a person afflicted with CF can be extended up to thirty years however, most die before the age of thirteen. 1 Since so many people are affected by this disease, it’s no wonder that CF was the first human genetic disease to be cloned by geneticists.

In this paper, I will be focusing on how the cystic fibrosis gene was discovered while at the same time, discussing the protein defect in the CF gene, the bio-chemical defect associated with CF, and possible treatments of the disease. The classical genetic approach to finding the gene that is responsible for causing a genetic disease has been to first characterize the bio-chemical defect within the gene, then to identify the mutated protein in the gene of interest, and finally to locate the actual gene. However, this classical approach proved to be impractical when searching for the CF gene.

To find the gene responsible for CF, the principle of “reverse genetics” was applied. Scientists accomplished this by linking the disease to a specific chromosome. After this linkage, they isolated the gene of interest on the chromosome and then tested its product. 2Before the disease could be linked to a specific chromosome, a marker needed to be found that would always travel with the disease. This marker is known as a Restriction Fragment Length Polymorphism or RFLP for short. RFLP’s are varying base sequences of DNA in different individuals which are known to travel with genetic disorders.

The RFLP for cystic fibrosis was discovered through the techniques of Somatic Cell Hybridization and through Southern Blot Electrophoresis (gel separation of DNA). By using these techniques, three RFLP’s were discovered for CF; Doc RI, J3. 11, and Met. Utilizing in situ hybridization, scientists discovered the CF gene to be located on the long arm of chromosome number seven. Soon after identifying these markers, another marker was discovered that segregated more frequently with CF than the other markers. This meant the new marker was closer to the CF gene.

At this time, two scientists named Lap-Chu Tsui and Francis Collins were able to isolate probes from the CF interval. They were now able to utilize to powerful technique of chromosome jumping to speed up the time required to isolate the CF gene much faster than if they were to use conventional genetic techniques. 3In order to determine the exact location of the CF gene, probes were taken from the nucleotide sequence obtained from chromosome jumping. To get these probes, DNA from a horse, a cow, a chicken, and a mouse were separated using Southern Blot electrophoresis.

Four probes were found to bind to all of the vertebrate’s DNA. This meant that the base pairs within the probes discovered contained important information, possibly even the gene. Two of the four probes were ruled out as possibilities because they did not contain open reading frames which are segments of DNA that produce the mRNA responsible for genes. The Northern Blot electrophoresis technique was then used to distinguish between the two probes still remaining in order to find out which one actually contained the CF gene.

This could be accomplished because Northern Blot electrophoresis utilizes RNA instead of DNA. The RNA of cell types affected with CF, along with the RNA of unaffected cell types were placed on a gel. Probe number two bound to the RNA of affected cell types in the pancreas, colon, and nose, but did not bind to the RNA from non-affected cell types like those of the brain and heart. Probe number one did not bind exclusively to cell types from CF affected areas like probe number two did. From this evidence, it was determined that probe number two contained the CF gene.

While isolating the CF gene and screening the genetic library made from mRNA (cDNA library), it was discovered that probe number two did not hybridize. The chances for hybridization may have been decreased because of the low levels of the CF gene present within the probe. Hybridization chances could also have been decreased because the cDNA used was not made from the correct cell type affected with CF. The solution to this lack of hybridization was to produce a cDNA library made exclusively from CF affected cells. This new library was isolated from cells in sweat glands.

By using this new cDNA library, probe number two was found to hybridize excessively. It was theorized that this success was due to the large amount of the CF gene present in the sweat glands, or the gene itself could have been involved in a large protein family. Nevertheless, the binding of the probe proved the CF gene was present in the specific sequence of nucleotide bases being analyzed. The isolated gene was proven to be responsible for causing CF by comparing its base pair sequence to the base pair sequence of the same sequence in a non-affected cell.

The entire CF cDNA sequence is approximately 6,000 nucleotides long. In those 6,000 n. t. ‘s, three base pairs were found to be missing in affected cells, all three were in exon #10. This deletion results in the loss of a phenylalanine residue and it accounts for seventy percent of the CF mutations. In addition to this three base pair deletion pattern, up to 200 different mutations have been discovered in the gene accounting for CF, all to varying degrees. The Cystic Fibrosis gene is located at 7q31-32 on chromosome number seven and spans about 280 kilo base pairs of genomic DNA.

It contains twenty four exons. 4 This gene codes for a protein involved in trans-membrane ion transport called the Cystic Fibrosis Transmembrane Conductance Regulator or CFTR. The 1,480 amino acid protein structure of CFTR closely resembles the protein structure of the ABC-transporter super family. It is made up of similar halves, each containing a nucleotide-binding fold (NBF), or an ATP-binding complex, and a membrane spanning domain (MSD). The MSD makes up the transmembrane Cl- channels. There is also a Regulatory Domain (R-Domain) that is located mid-protein which separates both halves of the channels.

The R-Domain is unique to CFTR and is not found in any other ABC-transporter. It contains multiple predicted binding sites for protein kinase A and protein Kinase C. 4 Mutations in the first MDS are mainly found in exon #4 and exon #7. These types of mutations have been predicted to alter the selectivity of the chloride ion channels. 4 Mutations that are in the first NBF are predominant in CFTR. As previously mentioned, 70 percent of the mutations arising in CF cases are deletions of three base pairs in exon #10. These three base pairs give rise to phenylalanine and a mutation at this site is referred to as DF508.

Such a mutation appears not to interfere with R-Domain phosphorylation and has even been reported to transport chloride ions. 6&7 There are five other frequent mutations that occur in the first NBF. The first is a deletion of an isoleucine residue, DF507. The second is a substitution of glycine or amino acid #551 by aspartic acid/F551D. The third involves stop mutations at arginine #553 and glycine #542. The fourth is substitutions of serine #549 by various other residues. The fifth is a predicted splicing mutation at the start of exon #11.

Mutations within the R-Domain are extremely rare. The only reason they do occur is because of frameshifts. Frameshifts are mutations occurring due to the starting of the reading frame one or two nucleotides later than in the normal gene translation. 4Mutations in the second membrane spanning domain of the CFTR are also very rare and have only been detected in exon #17b. These have no relevance to mutations occurring in the first membrane spanning domain. They apparently do not have a significant impact on the Cystic Fibrosis Transmembrane Conductance Regulator either.

Mutations in the second nucleotide-binding fold occur frequently in exon #19 and exon #20 by the deletion of a stop signal at amino acid number 1282. Exon #21 is sometimes mutated by the substitution of asparagine #1303 with lysine #N1303K. 4 The Bio-Chemical Defect: Studies of the chloride channels on epithelial cells lining the lungs, sweat glands, and pancreas have shown a consensus in that the activation of chloride secretion in response to cAMP (adenosine 3′, 5′-monophosphate) is impaired in cystic fibrosis cases.

Another affected, independently regulated chloride channel that has been discovered is activated by calcium-dependent protein kinases. Sodium ions have also been noted to be increasingly absorbed by apical sodium channels. 8 Therefore, the lack of regulated chloride ion transport across the apical membranes and apical absorption of sodium ions, impedes the extracellular presence of water. Water will diffuse osmotically into cells and will thus cause the dehydration of the sol (5- mm fluid layer of the cell membrane) and the gel (blanket of mucus) produced by epithelial cells.

As a result of this diffusion of water, airways become blocked and pancreatic proteins turn inactive. An Account of the Absorption and Secretion of Cl-, Na+, and Proteins An inward, electrochemical Na+ gradient is generated by the Na+, K+-ATPase pump located in the basolateral membrane (the cell side facing the organ it is lining). A basolateral co-transporter then uses the Na+ gradient to transport Cl- into the cell against its own gradient.

This is done in such a way that when the apical Cl-channels within the membrane spanning domain open, Cl- diffuse passively with their gradient through the cell membrane. 4 In pancreatic duct cells, a Na+, H+-ATPase pump is used and a bicarbonate secretion is exchanged for Cl- uptake in the apical membrane. Chloride ions then diffuse passively when the Cl- channels are opened. Such secretions also allow for the exocytosis of proteins in the pancreas which will later be taken into the small intestines for the breaking down of carbohydrates.

In addition to the pump-driven gradients and secretions, there exists autonomic neurotransmitter secretions from epithelial cells and exocrine glands. Fluid secretion, including Cl-, is stimulated predominately by cholinergic, a-adrenergic mechanisms, and the b-adrenergic actions. 4 Such chemical messengers cannot enter the cell, they can only bind to specific receptors on the cell surface and transmit messages to and through an intracellular messenger such as Ca2+ and cAMP by increasing their concentration.

The intracellular message is transmitted across the cell by either diffusion or by a direct cascade. One example of a directed cascade is the following: Possible Treatments For Cystic Fibrosis One suggested treatment for CF has been to provide the missing chemicals to the epithelial cells. This can be accomplished by the addition of adenosine 3′,5’-monophosphate (cAMP) or the addition of the nucleotide triphosphates ATP or UTP to cultures of nasal and tracheal epithelia.

This has been proven to alter the rate of Cl- secretion by removing the 5-mmeter sol layer of fluid in the respiratory tract. 9 Moreover, luminal application of the compound amiloride, which inhibits active Na+ absorption by blocking Na+ conductance in the apical membrane, reduced cell secretion and absorption to a steady state value. Another treatment that has been suggested is to squirt solutions of genetically engineered cold viruses in an aerosol form into the nasal passages and into the lungs of people infected with CF.

This is done in hopes that the virus will transport corrected copies of the mutated gene into the affected person’s airways so it can replace the mutated nucleotides. 10 This form of treatment is known as gene therapy. A different approach taken in an attempt to cure cystic fibrosis involves correcting the disease while the affected “person” is still an embryo. Test tube fertilization (in vitro fertilization) and diagnosis of F508 during embryonic development can be accomplished through a biopsy of a cleavage-stage embryo, and amplification of DNA from single embryonic cells.

After this treatment, only unaffected embryos would be selected for implantation into the uterus. Affected embryo’s would be discarded. Chloride conductance channels have dramatic potentials. One channel can conduct from 1×106 to 1×108 ions per second. 8 This is particularly impressive when you consider the fact that there are not any channels present on cells to perform the required tasks. As a result of this, a mutation of one channel or even a partial mutation of a channel, that causes a decrease in the percentage of channel openings, can exert a major effect.

Even the mildest of cures altering the Cystic Fibrosis Conductance Regulator in CF afflicted people would lead to significant improvements in that individuals health. Since cystic fibrosis is the most common genetic disorder, particularly amongst Caucasians, in today’s society, intense research efforts towards its cure would be invaluable. When will cystic fibrosis be completely cured? No one can say for sure but, strong steps have already been taken towards reaching this goal.

Black Death, Plague

Plague is a term applied randomly in the Middle Ages to all fatal epidemic diseases, but now restricted to an acute, infectious, contagious disease of rodents and humans, caused by a short, thick bacillus, Yersinia pestis. In humans, plague occurs in three forms: bubonic plague, pneumonic plague, and septicemic plague. Bubonic plague is the best-known form and is so called because it is characterized by the appearance of buboes, or enlarged, inflamed lymph nodes, in the groin or armpit or on the neck.

Bubonic plague is transmitted by the bite of any of numerous insects that are normally parasitic on rodents, and that seek new hosts when the original host dies. The most important of these insects is the rat flea Xenopsylla cheopis, which is parasitic on the brown rat. Untreated bubonic plague is fatal in 30 to 75 percent of all cases. The Black Death, the name later given to the plague, ravaged Europe between 1347 and 1351, taking a great toll of life.

Modern research confirms the estimate of the chronicler Jean Froissart that about one-third of the population died. Originating in China and Turkestan, the plague was transmitted to Europeans when a Kipchak army catapulted plague-infested corpses into the town. The Plague spread from the Mediterranean ports, affecting Sicily (1347); North Africa, Italy, Spain, and France (1348); Austria, Hungary, Switzerland, Germany, and England (1349); and Scandinavia and the Baltic lands (1350) (See Fig. 1).

There were recurrences in 1361-63, 1369-71, 1374-75, 1390, and 1400. In bubonic plague, the first symptoms are headache, nausea, vomiting, aching joints, and a general feeling of ill health. The lymph nodes of the groin or, less commonly, of the armpit or neck, suddenly become painful and swollen. The temperature, accompanied by shivering, rises to between 38. 3 and 40. 5 C (101 and 105 F). The pulse rate and respiration rate are increased, and the victim becomes exhausted and apathetic. The buboes swell until they approximate a chicken egg in size.

In nonfatal cases, the temperature begins to fall in about five days, and approaches normal in about two weeks. In fatal cases, death results in about four days. The purple color, which appears in all plague victims during their last hours, is due to respiratory failure; the popular name Black Death that is applied to the disease is derived from this symptom. Many preventive measures, such as sanitation, killing of rats, and prevention of the transport of rats in ships arriving from ports in which the disease is endemic, are effective in reducing the incidence of plague.

Famine, which reduces resistance to the disease, results in spread of plague. Individuals who have contracted the disease are isolated, put to bed, and fed fluids and easily digestible foods. Sedatives are used to reduce pain and to quiet delirium. During World War II, scientists using sulfa drugs were able to produce cures of plague; subsequently, streptomycin and tetracycline were found to be more effective in controlling the disease.

Treating Disease with Stem Cells

This article was written by Dr. Gregory Hale, professor of Pediatrics at the University of Kentucky College of Medicine, in response to questions posed by Scientific American Magazine regarding the treatment of certain diseases with cord blood stem cells. There is some additional information provided by Viacord, a medical service company that provides private family cord blood banking, processing, and research. Dr. Hale discussed the advantages of cord blood stem cell transplants, the results of several transplants, as well as the research that on-going in the field of stem cell transplantation.

The blood that remains in the human umbilical cord blood following birth contains a rich source of hematopoietic progenitor cells known as stem cells. These stem cells are the master cells of the blood. They divide to make new red cells that supply oxygen, white blood cells that fight disease and infection, and platelets that facilitate healing. Doctors now have three sources of stem cells available to them: bone marrow, mobilized bone marrow or peripheral blood, and umbilical cord blood.

Bone marrow has traditionally been used as a source of stem cells, but research is proving that cord blood may be an excellent alternative source. Cord blood can be utilized for the treatment of many diseases, including leukemia, sickle cell anemia, and Hodgkins disease. The first successful cord blood transplant took place in 1988 when a newborns cord blood was used in a life saving stem cell transplant for her older brother who had Fanconi anemia. Since then, there has been much research into the advantages of cord blood stem cells.

Cord blood is much more readily available and poses no donor risk. The blood is simply collected from the placenta and umbilical cord after the baby is born and stored. The potential of expanding the ethnic diversity of the donor pool is greatly increased, since minorities are considerably under-represented in bone marrow transplant pools. Cord blood stem cells may also pose less risk of graft-versus-host disorder, or GVHD, than stem cells from bone marrow. GVHD occurs when the donors immune cells make antibodies against the hosts tissues, resulting in serious complications.

In the last ten years, several studies of cord blood transplants have taken place and their results have been published in science and medical journals. In 1996, the New England Journal of Medicine reported the results of 25 consecutive cord blood transplantations from August 1993 to November 1995 by Dr. Joanne Kurtzberg at Duke University. After bone marrow searches were unsuccessful for 17 patients, cord blood was collected from unrelated donors at the New York Blood Center. Nineteen patients had malignant diseases and four had nonmalignant conditions.

The patients average age was seven years and the average weight was 19. ilograms. Twenty cord blood units were slightly HLA-mismatched and one was HLA-identical. The HLA, or Human Leukocyte Antigen, induces the formation of antibodies because it is recognized by the immune system as a threat. Engraftment was successful in 23 of 25 patients, and only two patients had severe graft-versus-host disease. In contrast, bone marrow transplants in children have a 30 percent incidence of graft-versus-host-disease. Seven of the patients with malignant disease and 6 with nonmalignant conditions were alive one year after transplantation.

The report concluded that HLA-mismatched cord blood is an alternative source of stem cells for transplantation in children. In another study by Dr. John Wagner at the University of Minnesota Hospital, 13 patients with malignant leukemia diseases and five with nonmalignant conditions received cord blood transplants between July 1994 and December 1995. The average age of these patients was 2. 7 years and the average weight was 15. 4 kilograms. Seven patients received HLA-matched blood and 11 received varying degrees of HLA-mismatched grafts.

Six months after transplantation, 65 percent of the patients were alive and only two developed severe graft-versus-host disease. The authors stated that the benefits of cord blood transplantation included the low rate of graft-versus-host disease, rapid availability of blood, lessened donor risk, and a low risk of transmissible infections such as cytomegalovirus and Epstein Barr virus. Even with these and other successful transplantations, there are still questions to be answered. For example, what is the minimal cell dose? Can an adult recipient be effectively transplanted?

Because the volume of umbilical blood collected at birth is between 80 and 100 milliliters, the majority of transplants have been pediatric cases. Bone marrow, on the other hand, gives the doctor a large supply of stem cells. Researchers are now seeking methods to increase the number of cord blood cells for use in larger adult patients. Further basic science and clinical research will answer these and other dilemmas such as the graft versus leukemia effect, how long cord blood can be preserved and utilized, and the degree of graft-versus-host disease.

There is additional research going on now to investigate the feasibility of inserting genes into cord blood stems cells and using them for gene therapy. The possibilities have sparked increased interest into doctors and scientists worldwide. With this interest comes the need for both private family and public cord blood banks. The National Institutes of Health (NIH) funded the first donor cord blood band and is also funding two more in California. Fortunately, the number of insurance companies who will pay for cord blood storage is increasing.

The $1,500 for the initial service and $95 per year storage fee saves the insurer thousands of dollars compared to a bone marrow harvest, which costs between $5,000 and $10,000, or an unrelated donors bone marrow which can cost up to $30,000. According to Dr. Hale, the future holds great promise for the use of cord blood stem cells. The results of these studies must be compared with the anticipated high mortality rate without transplantation. The number of cord blood transplants is expected to increase significantly in the near future and further research will continue to improve knowledge and increase survival rates.

Prenatal Screening Essay

Screening for Down syndrome is available to about 53. 5% of mothers on a maternal age basis, and the remaining 46. 5% of health boards provide serum screening for all ages. There are several methods used in prenatal screening, these are usually used separately, and a number of factors are taken into account to determine which method should be used.

Amniocentesis has been around for 20 years and is probably the most well known screening method. It involves testing a sample of the amniotic fluid surrounding the foetus, ultrasound is used to guide a needle through the abdomen, into the womb and a small amount of amniotic fluid (20ml) is removed.

The procedure is usually carried out at 14-16 weeks. Amniocentesis tests for chromosome disorders, and is 99. 8% reliable for chromosome number, there is however a risk of miscarriage (usually 1/250 or less) after the procedure. This is one of the reasons why amniocentesis has only been offered to over 35’s (since they have a much higher risk of having a Down syndrome child)(Webb 1990). Previous studies on amniocentesis concentrated on problems that might arise during pregnancy or immediately after, these studies found that children whose mothers had amniocentesis are more likely to have breathing problems in the first few days after birth.

A study performed by Jo-Anne Finegan in Toronto followed 88 women who had, had amniocentesis, there was an increased incidence of ear infection in this group. Finegan tested the stiffness of the eardrum and found children in the amniocentesis group were more than three times as likely to have abnormal readings. It is thought that there is a disruption of the delicate balance of pressure across the eardrum when the amniotic fluid is removed, which could cause the problems(Webb 1990).

Chorionic villus sampling is another form of sampling, it involves taking a small piece of placenta and genetic testing is carried out on it, there is a slightly higher chance of foetal loss with this procedure (Dick 1996). A more recent form of prenatal testing involves serum markers. Blood is taken from the pregnant women and the maternal blood is tested for three hormones, this test is called the ‘triple screen’ test. The three hormones tested are alpha foeto-protein (AFP), human chorionic gonadotrophin (HCG) and oestradiol (E3).

AFP is based on the fact that Down syndrome foetuses tend to be smaller on average, have smaller placentas and thus secrete less AFP. All three hormones can be tested individually, but are not so reliable this way. AFP results detect 20%-25% if carried out alone (Cuckle 1984), tests combining more than one measure detected 48%-91%. A study using AFP and HCG detected 90% of cases in women over 35 and 43% in women under 30, it also found that detection rates were better when the test was performed before week 17 (Gouldie et al 1995).

Prenatal sonography looks at the foetus using ultrasound, by measuring the iliac angle in the pelvis the risk of Down syndrome can be measured. A study performed shows that the mean iliac angle is 60o for normal foetuses and 75o in foetuses with Down syndrome, by measuring the iliac angle in foetuses the liklihood of Down syndrome can be worked out, for example if the iliac angle is 50o the liklihood is 1/588 of the foetus having trisomy 21, if however the angle is 80o then the chance is 1/50. This type of prenatal testing although not as reliable as amniocentesis is much safer.

Saridogan et al 1996 pointed out a number of reasons why Down syndrome may not be detected, first of all women may decline the test, this may be due to ignorance of the test or to cultural/religous reasons. Another reason may be due to the late presentation of the woman, as stated above testing before week 17 gives the best results. The triple test is not 100% reliable, there are incidences when there is a negative test, and the child is born with Down syndrome the reason for this is not always known. Prenatal Screening Procedures In an uncomplicated pregnancy, expect about a dozen doctor visits

First VisitBlood tests: To check the woman’s blood group and sometimes, to check for presence of hepatitis B virus, which might be transmitted to the baby. Cervical smear test: To test for an early cancer of the cervix (if a test has not been performed recently). Also called a Pap smear. First Visit and Throughout the PregnancyBlood tests: To check for anemia in the woman, and in women with Rh-negative blood groups, to look for the presence of Rhesus antibodies. Urine test: To check for proteinuria, which could indicate a urinary tract infection or preeclampsia. Blood and urine test: To check for diabetes mellitus.

Blood pressure check: To screen for hypertension, which interferes with blood supply to the placenta and is a sign of preeclampsia. First Visit and After ANY InfectionBlood tests: To screen for rubella, which can cause defects in the baby, and for syphilis and HIV (the AIDS virus) which can also be passed on. First 12 WeeksChorionic villus sampling: May be performed if there is a risk of certain genetic (inherited) disorders being passed on. 16 to 18 WeeksUltrasound scanning: Is carried out to date the pregnancy accurately and to detect any abnormalities present in the fetus.

Amniocentesis: Carried out on older women and those with spina bifida or Down’s syndrome to detect possible abnormalities in the fetus. Blood test: In some cases, the amount of alpha-fetoprotein in the blood is tested to determine whether the baby has spina bifida. Fetoscopy and fetal blood sampling: In some cases, these are carried out if there is doubt about the normality of the baby. High-risk or overdue pregnancies Blood and urine tests: To assess placental function and fetus health. Electronic fetal monitoring: To check on the fetal heart beat.

Stem Cell Research

Stem cell research is a very complex argument. There are people that feel that stem cell research should not have even been introduced into our society. However, there are others that feel that stem cell research could change many lives. Those who feel it could change many lives are right in many people’s eyes. With the advancement of stem cell research, we would be able to help many people with such diseases as heart disease and Alzheimer’s. Stem cells could also help others with dibilating diseases and those who have suffered some very unfortunate accident.

One particularly known person who supports the stem cell research was Christopher Reeves, who was paralyzed in an accident. Other people that believe that the research is unethical since the best way to get stem cells is from embryos, in which the embryo is killed in order to take the stem cells. The biggest obstacle for stem cell research would have to be, killing the human embryo in order to take the stem cells. Many of those that oppose the research believe that is murder, since many religions, such as the Catholic Church, believe that the embryo has a soul, therefore, it is considered murder and a sin.

There are other ways of getting the cells, which do not require the killing of embryos. One way to get the stem cells would be from taking them from an adult source. However, those are sometimes not as abundant as those taken from embryos. There is a chance that the cells could be harvested from the Umbilical cords donated from newborns. There are other instances of the cells being taken from those of aborted babies. If the mothers do not want to keep the baby, why not have them donated to the stem cell research, in order to help someone else.

Also, there are the embryos that are left in the fertility clinics. Those embryos are going to be destroyed anyway, why not donate those that are grown to the stem cell research. With the stem cell research, there could be many lives saved by the research alone. However, there is no estimate to the lives that stem cell research could save and there is no number of those that have been saved by stem cell research. In fact, there is no human research to date that states that stem cells are going to work.

Stem cells have been shown to grow items such as heart tissue and spinal tissue along with many other organs. There are some that have benefited from stem cell research, not those of embryonic stem cells but those of adult stem cells. The Coalition of Americans for Research Ethics, states that adult stem cells have shown to be more effective than the embryonic stem cells. Adult bone marrow cells have shown immune tolerance and have not been rejected. The adult stem cells can also repair the retina of the eye, grow new blood vessels, and stimulate the growth in children with bone disease.

Dr. Ronald McKay, stem cell researcher at the National Institute of Disorders and Stroke, believes that the reasons for such hype in embryonic cells is that people need a fairy tale and that the adult stem cells are just as effective. If stem cells can help such people with heart disease, Parkinson’s, and Alzheimer’s why would we want to let these people die in such a way. Many of these diseases, such as Parkinson’s and Alzheimer’s, which attack the nervous system cells would be able to get back to their own lives and not have to suffer from such a debilitating disease.

Others feel that it is almost like playing god and that changing something that would occur naturally is unethical. Still, the main conflict that lies with stem cell research is that of killing the embryos in order to extract the stem cells. Another side of research is where the embryos will come from. There are many types of stem cells that can be used. But, the main focus is on those of embryonic stem cells. Stem cells can be harvested from those left behind after in-vitro fertilization.

Many of those eggs are going to be destroyed, so why not let those be donated to the research rather than just destroying them. Others still feel that the embryo is a human life and that extracting stem cells from embryos is like killing a human being. It has been shown in countless articles that the embryo, once fertilized, shows a heart beat after just eight weeks. However, there is another way of harvesting stem cells, which would eliminate the use of embryos. Stem cells can now be harvested in labs or taken from adult stem cells which have been shown to have a better chance to not the be rejected by the body.

In light of all the new findings, including being able to grow the cells rather than harvest them, why would we not want to consider stem cell research? Many groups are trying to ensure the success of stem cell research, while others try to ensure its failure. My thought on the issue would be to allow the research to go on, especially if the cells are able to be grown in labs and not harvested. My view does not support that of the killing of embryos, but rather cells could help many sick people in the world and could even help cure many of those diseases.

With the many claims that extracting stem cells is nothing but murder and the claims showing how it can help others, I feel that stem cell research just may be the key to helping many people. If it could help save someone in your family, would you still be against it? As long as cells are being grown in the labs rather than having them harvested, wouldn’t it actually be best for all of us? To be able to help those suffering with heart disease, Parkinson’s, and Alzheimer’s, and many other diseases wouldn’t it be worth fighting to support stem cell research.

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease which may affect many different organs and tissues in the body. Women of child bearing age are typically affected, but individuals of any age, sex, or race may develop the disease. SLE while uncommon, is not rare, with an estimated disease prevalence of 1 in every 2,000 population. It is a condition which appears to be increasing in prominence especially over the last 15 to 20 years.

This is likely explained by the earlier recognition of milder cases because of increased patient and physician awareness and by the enhanced availability of sensitive laboratory tests helpful in the diagnosis. Although the exact cause is not known, most of the features of the disease seem to be due to a fundamental abnormality of the body’s immune system. The immune system is the body’s defence mechanism against foreign substances entering the body.

It depends on the formation of compounds called antibodies and on hite cells called lymphocytes which rise to the defense of the body in case of invasion by foreign agents such as germs or viruses. This is a normal and desirable process in the healthy individual. In patients with SLE, there seems to be a defect in the body’s immune system whereby antibodies are mistakenly formed against the body’s own tissues. This leads to inflammation and damage in the tissues so affected. Patients with SLE can be identified by the presence of these abnormal antibodies in their blood stream.

It is not clear what triggers this immune abnormality but several factors seem to be contributory in some patients. These include infection, hormonal, genetic, and unidentified environmental factors. Some drugs including those used for the treatment of tuberculosis (isoniazid), high blood pressure (hydralazine), and convulsions (dilantin) have also occasionally been associated with the development of SLE. Clinical Features The majority of patients with SLE have very mild symptoms which can be easily controlled with simple measures.

A small minority have more serious manifestations which may require more aggressive forms of treatment. The seriousness of the disease is frequently related to the type and number of organs affected. The following is a summary of some of the signs and symptoms that may occur in lupus patients grouped according to the organs or tissues affected: General symptoms Fever and unusual fatigue occur in up to 80 or 90% of SLE patients at some time during the course of their illness. Skin rash a very common feature occurring in many patients.

The classic rash is called a butterfly rash because it occurs in a butterfly-like patch over the bridge of the nose and cheeks. This type of rash is in fact quite uncommon with most lupus rashes being far less specific and occurring anywhere on the body but especially over sun exposed areas. Many lupus rashes appear to be provoked or aggravated by direct sun exposure. Sores may also occur in the nose and mouth, and scalp hair loss may occur in some individuals. In a closely related condition called discoid lupus erythematosus (DLE), the rash may arise as distinct scaly and reddish patches which may heal with scarring.

Patients with DLE are frequently otherwise well. They demonstrate few, if any, of the symptoms of SLE and usually have a nearly normal laboratory profile. Joints – stiffness, pain, and swelling may commonly occur. Unlike rheumatoid arthritis however, permanent damage to the joints is almost unheard of. Membranes of the heart and lungs, the linings of the heart and lungs may occasionally become inflamed in SLE patients leading to sharp chest pains and shortness of breath. If it involves the lung, the condition is called pleuritis.

If it affects the heart, the condition is called pericarditis. Blood cells – a number of abnormalities may occur in the blood including anaemia or a fall in the red blood cell count and/or falls in the white cell count or platelet count (particles in the blood that help with clotting) and thus lead to potential problems with bleeding. Kidneys – often a sign of more serious disease, inflammation of the kidney may lead to loss of protein in the urine, increased blood pressure and occasionally kidney failure.

Brain and nerves – fortunately, a relatively rare problem, patients so affected may have trouble with headaches convulsions, emotional disturbances, weakness or numbness of the extremities. Diagnosis The diagnosis of SLE is suspected in any individual who presents with one or more of the clinical features outlined above. A diagnosis is confirmed by laboratory tests which show the presence of one or more abnormal circulating antibodies in the blood stream. These antibodies may be directed against any tissue in the body.

The most important of these however, is an antibody directed against the centre or nucleus of the cells in the body, the so-called anti-nuclear antibody or ANA. ANAs are normally not present or present only in barely detectable quantities in healthy individuals. Thus, this test is very helpful to the doctor if he is suspicious about the possibility of SLE. It is very important however, to stress that the presence of ANAs doesn’t specifically point to a diagnosis of SLE since abnormal antibodies of this type may occur in other conditions such as rheumatoid arthritis, certain infections and inflammation of the liver.

Thus the diagnosis of SLE requires both the presence of abnormal antibodies (especially ANAs) as well as signs and symptoms suggesting inflammation of several organs or tissues in the body. Although, all lupus patients have elevated levels of ANA, not all people with elevated ANA have lupus. Increased levels of ANA generally indicate that the physician should follow up with an anti-DNA antibody test. To assist in the diagnosis of SLE, the American Rheumatism Association (ARA) in 1982 adopted a set of criteria for the classification of this disease.

See Table 1) It should be noted that while a variable number of these features may occur during the course of the disease, they need not occur at the same time. Moreover, it is quite unpredictable as to which patient may develop which particular symptom or grouping of symptoms at any particular time. Management and Treatment The management of patients with SLE has three important components: Education of the patient and family, Medical treatment Follow-up. Education of the Patient and Family Educating the patient and family is essential in the management of SLE.

Patients and family are frequently misinformed about the disease and the time taken to correct and clarify any early misconceptions is greatly rewarding. A great deal of helpful information and support by persons similarly affected is also available through patient self-help groups such as the Lupus Society. It is also important for patients with SLE to realize the importance of good health habits in the control of their illness. This includes a well balanced diet, adequate rest, as well as physical activities tailored to the individual’s tolerance.

Most patients should also reduce direct sun exposure and consider the use of effective sun screen preparations. Preparations with a sun protection factor (SPF) of at least 15 and which block both UVA and UVB rays are recommended. Medical Treatment SLE is typically a disease which shows a fluctuating course characterized by long periods of relative inactivity (remission) punctuated by unpredictable flares of inflammation involving one or more organ systems (exacerbation). Fortunately for a majority of SLE patients, the symptoms are so mild as to require little or no specific treatment.

The choice of therapy will therefore depend both on the nature as well as the severity of the symptoms. The initial treatment of minor joint aches and pains may often consist of simple anti-arthritic medications sometimes known as non-steroidal anti-inflammatory drugs or NSAIDs. Skin rash can frequently be managed by avoidance of sunlight as well as the use of topical steroid creams as directed by the family physician. If the rash or arthritis is more troublesome, your doctor may consider a class of drugs still used for the treatment of malaria such as hydroxychloroquine or Plaquenil.

For patients with more serious symptoms such as severe fever, pleurisy or pericarditis, or falling blood count, it may be necessary to resort to the use of corticosteroids by mouth for a variable length of time. Unfortunately corticosteroids have a variety of side effects and your doctor will endeavour to taper and reduce the dosage as quickly as is medically possible. A relatively new approach called pulse steroid therapy involves the administration of very large doses of corticosteroid either orally or intravenously over a short period such as 1-3 days.

Pulse steroid therapy would seem to have the advantage of being relatively free of immediate and long term side effects. For the rare patient where steroids are inadequate, treatment is available with a number of more potent drugs specifically directed at suppressing the formation of the abnormal antibodies which occur in SLE. These drugs, examples of which include Imuran and Cyclophosphamide, are called cytotoxic or immunosuppressive agents. These drugs are frequently effective but may have serious side effects including the suppression of the body’s normal ability to fight infection.

An alternate non-drug approach to the management of SLE, especially severe kidney disease, may be sometimes considered. This procedure, which is called plasmapheresis, involves an exchange type transfusion whereby the red blood cells are removed from the blood and returned to the body while undesirable antibodies and complexes and the liquid part of the body’s blood (plasma) are discarded. This treatment seems most effective when combined with one of the cytotoxic or immunosuppressive drugs. Follow-up As the course of SLE may be unpredictable, close medical follow-up is essential.

This involves periodic assessment of disease activity by clinical history, physical examination and specific laboratory tests ordered by your doctor. Close follow-up during pregnancy and the immediate postpartum period is especially important as the risk of disease flare is increased during these periods. Inactive disease at the time of conception is associated with the best prognosis for both mother and baby. There is a slight but definite increased risk of miscarriage in mothers with lupus and their babies may have an increased chance of being born premature or with low birth weights.

Babies born to lupus mothers may also be at increased risk of developing lupus (neonatal lupus). This is probably due to the passage of abnormal antibodies through the placenta into the fetal blood stream. Neonatal lupus almost always resolves within 4-6 months of delivery. Babies born to lupus mothers may also be at increased risk of being born with an abnormality to the conduction system of the heart muscle. This may or may not be associated with other signs of neonatal lupus and seems to correlate closely with a very specific type of antibody in the mother’s circulation called the anti-Ro antibody.

What Is Eczema

Eczema is a category of skin disease that is characterized by inflammation, itching, dry scaly skin, and in severe cases, small fluid filled blisters and insomnia. It is the most common skin disease in children today. Mild cases of Eczema are a little worse than a tendency toward dry, itching skin. Severe cases can effect the whole body, can be intensely itchy, uncomfortable, and even have an effect on the person in a psychological manner due to self- consciousness.

Eczema sufferers have acute flare-ups or relapses of their hronic disease that can be annoying, itchy, and very uncomfortable. Eczema is not a contagious skin disease, but it does effect around 1 in 10 people. Its causes arent fully understood yet, but eczema seems to occur in people with family or personal history of allergic asthma, rhinitis, conjunctivitis, food allergies, icthyosis vulgaris, and keratosis pilaris. Eczema has always seemed to be a genetic skin disease, but until recently the researchers have been unable to identify a specific gene involved in the passing n of eczema.

Now, doctors believe they have found a gene that causes eczema, but since it is not present in all cases of eczema, they believe that there is more than one gene that can cause eczema. Also, a maternal pattern of inheritance has been discovered. Doctors and researchers believe that this maternal inheritance pattern is due to modification in the immune responses in utero, or via breast milk. There is no way to absolutely cure eczema although, many treatments have been found to be effective.

Now, with the wonderful discovery of one of the genes that may cause eczema, who knows what will happen. They are working on ways to permanently rid people of eczema all the time, but knowing exactly where the instructions on how to create the disease are located make finding a cure more likely. There are many things that can trigger or worsen cases of eczema. The number one cause of eczema flare-ups is emotional stress. Anger, frustration, anxiety, family hostility, rejection, and guilt can complicate the problem of eczema.

Irritants such as soaps, solvents, and laundry detergent can provoke it also. The only way to keep irritants from triggering eczema is to avoid them by using substitutes like a non-soap cleaning agent. Allergens in food and the air can also cause eczema to flare-up. Dietary management and air purifiers can help keep allergens under control. Infections of both a viral and bacterial nature can cause eczema to relapse. When the immune system is weak from illness, eczema sufferers are more prone to break outs of greater seriousness and discomfort.

Neurofibromatosis – Genetic Diseases

Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor located on any chromosome other than the sex chromosome.

They are both characterized by occurrences in multiple neurofibromas. The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly diagnosed during childhood. The most outstanding symptoms seem to occur during adolescence and pregnancy. Although the symptoms of NF vary and are unpredictable another common sign is brown spots on the skin. The markings on the body usually measure . 5cm in diameter for younger children and can reach 1. 5cm by adulthood. They can also decipher NF by observing markings or freckling on the iris.

The most common tumors occurring with NF 1 are located under the skin. They have even been found in deeper areas of the body. The amount or severity of pain from these tumors can range from minimal pain sparsely to intense pain constantly. One of the most severe results and the most apparent results of these tumors is disfigurement and orthopedic problems. These problems include scoliosis and pseudoarthrisis. There also may be some delaying in sexual maturation. There are many more learning disabilities and optic problems that may develop throughout their life.

Neurofibromatosis 2 has symptoms that usually develop much later in life compared to NF1. Most people are diagnosed with NF2 between the ages of 14 and 20. There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears. The probability of being effected by neurofibromatosis is very surprising.

It is actually one of the most common genetic disorders in the United States. The probability of being born with NF1 is 1 in 4000. The probability of being born with NF2 is 1 in 50000. This disorder effects all ethnic races and sexes. Because NF is an autosomal dominant genetic condition you can’t get it from other people. Statistics show that only about 50% of those affected with NF have family history of NF. The only way to get NF is from your parents. The parents can only give NF to their offspring if they are also plagued by this disorder.

In the past few years there have been huge advancements in treatment for neurofibromatosis. They still haven’t found a cure or effective treatment for this disorder. They have deciphered that NF1 effects chromosome 17 and that Nf2 effects chromosome 22. The problem with finding a cure for this disorder is that about of all cases occur due to new mutations of the genes. In 1990 scientists were able to clone the gene of NF1 and then produce its protein, neurofibromin. Once again in 1993 they were able to clone the gene of NF2 and create its protein, Merlin/ schwannomin.

One of the only treatments for this disorder is removal of the tumors which is done like the removal of any other tumor. New advancements are made everyday toward finding the secret behind this disorder. Taking this fact into consideration, doctors must always be kept up to date concerning new procedures and treatment of this disorder. Even though there have been huge advances in understanding this disorder there is no medical therapy available. The diagnosis of NF1 and NF2 are still largely based on clinical criteria.

The diagnosis for NF1 was established by the NIH Consensus Development Conference. They stated specifically that 2 or more of the following must be present: (1) 6 or more Caf-au-lait macules (brown spots) are present, (2) 2 or more neurofibromas (tumors), (3) freckling in the axillary or inguinal regions, (4) an optic pathway tumor, (5) 2 or more Lisch nodules, (6) a distinctive, osseous lesion, such as sphenoid wing dysplasia or thinning of the cortex of the long bones, and (7) a first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria.

To be diagnosed with NF2 the following must be included: (1) bilateral eight-nerve masses visualized by MR imaging or (2) a first degree relative with NF2 and either inilateral eigth-nerve masses or two of the following: neurofibroma, meninggioma, glioma, schwannoma, or jeuvanile posterior subcapsular lenticular opacity. Neurofibromatosis used to be just another disease that only doctors knew about. One man and his life changed this forever, the Elephant Man. This disease became most well known after the broadway production of his life.

The elephant man spent most of his known life as a profecional circus friek. He first appeared in1884 and his real name was Joseph Merrick. Because of his willingness to let people see him, and the play that was created around his life, the amount of reasearch done to find everything possible about this disease was certainly increased. He had numerous tumors an the right side of his body and face. His right hand was 3 to 4 times larger that the average man. His life had certainly spread the knowlage and increased the knowledge we have today of Neurofibromatosis.

Alzheimer’s Disease and Dementia

Alzheimers disease is emerging to potentially become the largest medical problem facing the elderly in the 21st century. Right now, an estimated 4. 5 million Americans are known to have the disease (Understanding Alz. ). A poorly understood illness, Alzheimer’s gradually steals away its victims mental and physical abilities, leaving them in a chronic out-of-mind state. It can last for an indefinite period, and as a result has a significant impact on all those close to the victim.

The disease, by gradually taking away the mind and personality of the sufferer, leads to behaviors that can be extremely difficult to manage, and very frustrating to family and caregivers. Few people genuinely understand what Alzheimer’s is, its true affects, and how it affects those around the victim. Alzheimer’s disease is a progressive, irreversible brain disorder that has no known cause or cure. There are many different terms for symptoms of forgetfulness and loss of mental clarity; the most well known is Dementia.

The term Dementia comes from two Latin words meaning away and mind, and it is used by doctors to specify an acute loss of, or impairment of, mental control (Mace and Rabins 15). Alzheimers is the most common form of permanent Dementia (About Alz. ). Dementia and Alzheimer’s are not the same things. Many different conditions are known to cause Dementia, not all of them affect only elderly people, and not all are fatal. Alzheimer’s is a unique syndrome that systematically kills swaths of the brain, causing Dementia in the process. Contrary to popular belief, Alzheimer’s is always fatal.

Much like AIDS, the immediate cause of death is often a complicating condition, such as pneumonia, but the actual cause of death is the illness (Mace and Rabins 140). Memory change is normal as people age, but Alzheimer’s symptoms are more than misplacing car keys and forgetting grandkids names. People afflicted with Alzheimer’s disease experience difficulties in virtually every aspect of cogitative reasoning (Understanding Alz. ). Alzheimer’s patients have extreme difficulty performing very familiar tasks, and eventually are unable to perform motor skills learned in early childhood.

The thought process affects everything from eating to communicating to breathing. Even the smallest task requires an incredible amount of thought. If the brain misses just one step in the process, the task will not be performed (Mace and Rabins 23). Along with their memories, Alzheimers patients judgment is also compromised as the disease progresses. They may dress inappropriately for the season, they may give away money, or they may insist on buying things they do not need (Understanding Alz. ).

For those suffering from Alzheimer’s, simple daily care can, and does, become an ordeal. Effortless things that ordinary individuals take for granted, such as eating, can become nightmarish experiences for both the patient and their caregivers. Mealtimes often explode into fierce confrontations because the patient doesnt understand and tries to resist (Mace and Rabins 68). Forgetful people will often simply forget to eat, even if food is left in plain sight. Once again, the effortless act of eating takes intricate thought.

An Alzheimers patent may not recognize food as edible; they may not be able to choose between two different items, they may not remember what to do with food, or how it gets in their mouth. Many times they will simply forget that they are hungry. If they do eat, they may hide food in odd places, throw it away, or eat rancid food (89). Bathing and personal hygiene are also major obstacles for those suffering from Alzheimer’s. Bathing actually means that the patient must think about, and remember, many things all at once: undressing, unbuttoning, finding the tub, turning on the faucets, and climbing in the tub.

Combined with feelings of insecurity without their clothes, and their loss of privacy, the whole thing is usually overwhelming. Often times the person is fearful of water, and the easiest way to react is to refuse to bathe (Mace and Rabins 30). The fact that past generations often didnt bathe and change clothing as frequently as we do now complicates the problem (79). Alzheimer’s victims are steadily reverting backward mentally; bathing brings out this fact fully by completely exposing the persons loss of independence and inability to think clearly.

People with dementing illnesses often suffer from a multitude of other health troubles, which can range from relatively mild problems to serious conditions (Mace and Rabins 99). Alzheimer’s patents are at constant risk of falls, pressure sores, dehydration, pneumonia, and constipation, among other things. Because they simply dont know theyre in pain, or cant communicate what theyre feeling, demented people often allow illnesses to fester into life threatening conditions. They are also prone to major dental problems, vision problems, and hearing difficulties (105).

Medication presents a mixed blessing because the patient often is unable to relate side effects which may themselves cause serious problems. For caregivers and family members, the odd things Alzheimers patients do can be the most distressing aspect of the illness (Mace and Rabins 119). Most people suffering from Dementia put things down and forget about them, or they hide or gather things and forget where they put them. They may hide food, dirty clothes, money, and various odds and ends in odd locations (133).

Also, a patients behavior sometimes becomes belligerent and downright mean. They make unreasonable demands and appear stubborn and uncooperative. They may insult their loved ones and make inappropriate comments for no discernable reason. These behaviors can be very frustrating and hurtful to family and caregivers, especially because they do not appear to be caused by the illness and look like plain meanness. In addition, false ideas, suspicion, paranoia, and hallucinations are also common occurrences.

Often times people with Alzheimer’s develop unyielding ideas that things have been stolen from them, that people are out to harm them, or that dead relatives are coming to see them (155). Alzheimer’s always has more than one victim because those who love the person with the disease suffer tremendously as well. The daily stress and the constant worry can, at times, become unbearable. Family members who have a loved one with a chronic dementing illness are often overwhelmed by many conflicting emotions. They feel sad, discouraged, tired, angry, depressed, and alone (Mace and Rabins 205).

A study from the New England Journal of Medicine found that taking care of a relative with Alzheimer’s is so grueling that nearly three-quarters of those who do it are relieved when their loved one dies (Study). Alzheimer’s disease is the nations leading cause of the chronic condition known as Dementia. Dementia causes the loss of intellectual abilities, which in turn leads to physical incapacities. That process is joined with other problems: impaired abstract thinking, disturbance of higher brain functions, such as the ability to name objects, or drastic personality changes (Sloane).

Living in a time when there is a pill or treatment for everything from acne to baldness, it is very hard for people to accept a disease that has no known cause and, so far, no cure. So much is still unknown about the disease that the only official way to diagnose Alzheimer’s is by observation of brain degeneration at autopsy (About Alz. ). I have no doubt that in the future we will be able to combat and defeat this dreadful disease. Until that time comes, people should realize that any person is at risk for developing this disease at some point in their life.

Down’s Syndrome Essay

Down’s syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six.   A relatively common genetic disorder, Down’s strikes 1 out of 600 babies. In 95 percent of all cases, the disorder originates with the egg, not the sperm, and the only known risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having a baby with Down’s; at 40, her odds are 1 in 34.

Scientists at Norfolk’s Jones Institute for Reproductive Medicine say they have overcome most technical hurdles to screening embryos for Down syndrome and many other chromosomal defects before the embryos are implanted in a woman’s uterus. The institute, part of Eastern Virginia Medical School, hopes to try out the technique with a handful of high-risk couples who come to the institute for in-vitro fertilization, in the near future. (www #1)

Eventually, all couples who go through the Jones Institute may have the option to screen for Down and most of the other conditions caused by an extra chromosome on one of 23 pairs that make up the normal complement. The technique has been developed in part to help parents avoid a difficult moral decision – what to do if the fertility techniques cause the mother to become pregnant with many children at once. At the same time, it opens up a host of other ethical questions for parents and society as a whole, say people who have children with Down. (www #1)

According to Kingsley and Levitz (1994), in-vitro fertilization (IVF), is a technique in which eggs are removed from a woman’s ovaries and combined with sperm in a dish. The resulting embryos are transplanted into the woman’s uterus. Before transplant, a single cell will be removed and exposed to probes made up of genetic material treated with fluorescent dye. Each probe has been designed to attach to a specific chromosome in the nucleus. Using a special microscope, a scientist can count the dots of various colors. Three of a specific color means that there is one extra chromosome of that type.

The institute will test five pairs that account for most chromosomal defects. The first cases will be done for free. When the procedure becomes common, the procedure will add about $2,000 to the cost of IVF, about $7,500. The Chairman of reproductive endocrinology at the Jones Institute said the procedure was developed primarily to avoid the multiple births that sometimes happen with IVF. (www #1) Most transplanted embryos, and many naturally conceived ones, never take root and grow because they have the wrong number of chromosomes.

In IVF, doctors try to improve the odds by implanting three or more, assuming that some will be lost. But sometimes, many or all of the embryos are viable. The parents then must decide – do they selectively abort some, or do they take on the hugely demanding task of having many babies at once? If doctors could screen the embryos, he said, they could limit themselves to implanting two and still enjoy a high probability that the embryos will survive. Nevertheless, the ability to screen out embryos with Down syndrome still worries families of people with the condition.

The option not to have a child with Down already exists. Tests during pregnancy can detect the condition. Parents may choose an abortion. Parents of children with Down syndrome, say that other parents who choose to discard an embryo in a laboratory are further removed from the implications of their decision. Doctors at the medical center say that they want very much for people confronting the decision to understand that having a child with Down syndrome can be very fulfilling. They says the Jones Institute isn’t trying to devalue people with Down syndrome by offering the test.

But they say this information has such important ramifications for the family, if we have that information, we would give it to them and they make the choice. Polar Body Analysis Physicians at Illinois Masonic Medical center have discovered that they can determine if a woman will have a baby with Down’s syndrome before she gets pregnant, provided she is willing to undergo in-vitro fertilization. Using an experimental technique called polar body analysis, the genetic material of an egg can be checked before laboratory fertilization, helping some women avoid abortions.

Chicago researchers at Masonic reported on a yearlong study involving 100 women who underwent the polar body procedure, they say that several women already have delivered healthy babies, and more than 20 are pregnant with no sign of Down’s. But the possibility exists that the Masonic patients could have achieved the same results without genetic testing. The majority of women who have conventional in-vitro fertilization are older and have normal pregnancies.

Dr. Charles Strom, director of medical genetics at the hospital said that, polar body work gives a 35-year-old female the same chance of conceiving a chromosomally normal baby that a 21-year-old has. He said at least half the women in the in-vitro fertilization program are 35 or older. (www #2) Polar body analysis hinges on basic biology. During normal development, the human egg contains a sac of excess chromosomes called the polar body before it gets ready to be fertilized by a male’s sperm.

Since this sac, is a mirror image of the egg, the genetic content of the egg itself can be determined through this procedure. www #3) Without such testing, about 30 percent of the Down’s pregnancies resulting from in-vitro fertilization would have miscarried naturally, and others could have been picked up by the standard prenatal testing techniques, chorionic villi sampling and amniocentesis. In-vitro fertilization is expensive, labor intensive and often disappointing. The polar body test would add another $2,000 to $2,500 to its costs. (www #2) The Triple Screen The “triple screen for Down syndrome” has been in existence for over five years.

However, just this past year, the American College of Obstetricians and Gynecologists officially recommended that this test be offered to all pregnant patients of all ages. This implies a legal mandate to practicing physicians who cannot afford the liability of not offering such a test after a national recommendation has been made. This “mandate” has been met with great controversy. (www #3) The “triple screen” actually involves drawing maternal blood to test for serum levels of three hormones: human chorionic gonadotropin (HCG), alphafetoprotein (AFP), and estriol (E3).

The pattern of the levels of these hormones predicts the presence of Down syndrome in the fetuses in up to 60-70% of pregnancies affected. By using computer formulas, the hormonal levels can be found that are predictive for a risk of Down syndrome in the fetus that approximates 1 in 190 – which is the same risk that a pregnant woman has at age 35. Thus, the test has been recommended now for women at all ages. If it is “positive”, it should be followed by ultrasonography and then amniocentesis to make a definitive diagnosis.

Some uses of the triple screen are seen as positive by all. If the test is negative, these results can prevent further unnecessary ultrasonography, or amniocentesis, or chorionic villus sampling – for women 35 or over; or for the woman with a previous fetus with Down syndrome. Normally these more expensive and invasive tests would have been recommended in those settings. It is the use of the test for all pregnant women that begins to stir controversy. Only one such serum test has ever been recommended so widely before – the serum (AFP) alphafetoprotein screen.

It is a screening test for multiple types of fetal defects that affect the “neural tube” in the fetus. These defects include such problems as anencephaly, holoprosencephaly, or einencephaly, as well as many levels of spina bifida. Down syndrome is certainly not the same as the wide range of anomalies termed “neural tube defects,” but the Triple Screen makes it seem an equal to many lethal defects. The triple screen actually detects many more fetal anomalies than Down syndrome, including the AFP-related anomalies mentioned above and several lethal trisomies, such as Trisomy 18.

The Triple Screen is called a screen “for Down syndrome” for marketing reasons, as much as for scientific accuracy. The Triple Screen is, in fact, a very poor screen, identifying only about 65% of fetuses with Down syndrome in utero. No other screen with such low validity has been universally recommended for all pregnant women. Such a recommendation means billions of dollars for the genetics industry and the researchers involved. (www #3) The screening tests establish the probability of pregnant women having children with Down Syndrome or Spina Bifida and other neural tube defects.

It is possible the widespread use of genetic screening for the purpose of identification and abortion of fetuses with Down Syndrome may adversely affect the quality of life for all persons with Down Syndrome in the community. Many groups representing people with Down syndrome have expressed their feelings about this issue, the following is a summary of some of the wishes they have expressed.

An appropriate period of time should be allowed between receiving information and deciding, with written consent whether or not to proceed with the test. Following a test result which implies that the fetus may have a probability of a chromosone abnormality such as Down Syndrome, the woman or couple should be provided with detailed, balanced information regarding the options available to them. This information should be provided by a knowledgeable and qualified health care provider such as those found n accredited genetic centres.

Balanced information should be so recorded for the woman or couple to review at their leisure. Opportunities to have the woman or couple speak to parents of children with Down Syndrome should be offered. (www #4) It is evident that the debate over screening for Down syndrome is far from settled. It is also evident that people with Down syndrome can make an important contribution to our society. I think if parents are not prepared to take on the challenges of a child with Down syndrome they should have options, should one of these options be abortion?

I would have a hard time supporting someones decision to abort, especially having spent some time with a young boy who has Down syndrome. There are many support groups for families who have children with Down syndrome, there are also many families willing to adopt. The programs at school for these children are very adaptable to the needs of the individual. Most children with Down syndrome can go to school and get along well, they make a valuable contribution to the classroom and their fellow students. The decision is a difficult one and I think that there are many options that need to be explored before anyone can make an informed decision.

Leprechaunism – Genetic Disease

Leprechaunism is an extremely rare genetic disease that was first identified in 1948 by W. L. Donohue. There have only been 49 cases reported worldwide since is first reporting in 1948 until 1987. This disease is also known as Donohue Syndrome, in his honor. Most Leprechaunism patients die by the age of 10 months, although there have been cases of patients living until 11 years of age. This is because several different mutations in the insulin receptor gene can cause Leprechaunism, and the severity of the mutation determines the severity of the phenotype.

Both male and female patients are affected by this disease. The disease is known as Leprechaunism because infants with the disease have an elf-like face and their growth is severely retarded. This is due to the patients being completely resistant to the effects of insulin. Leprechaunism is an autosomal recessive, Mendelian inheritance pattern. As stated before, both males and females can be affected. Its occurrence is associated with consanguineous relationships.

A consanguineous relationship means that the parents are genetically related (e. . first cousins). Clinical traits are as follows: Hyperpigmented skin or as otherwise known, Acanthosis nigricans. This symptom is not exclusive to Leprechaunism, as it is caused by high insulin levels.

This pigmentation normally occurs in areas of the body where flexing and bending occurs, such as the back of the neck. Reddening of the skin or erythema. This is caused by localized irritation. Most often the areas of the body most affected are those such as the gluteal cleft, groin area, and other places that friction might occur.

It is not limited to these areas as it occurs on any other part of the body as well, such as the extremities. Pincer nails. This is where the nails of the feet and hands have an increased inward folding. This often gives the visual effect of claws in severe cases. Hirsutism or excessive hair growth. Gynecomastia or abnormal swelling of the breasts with prominent nipples. This effect is the result of excessive production of estrogen. Enlarged genitalia. Dysmorphic facial features including large, low-set ears, depressed nasal bridge with a broad nasal tip and flared nares, and thick lips.

A severe lack of subcutaneous fat, abdominal distention, and loose skin. Leprechaunism is caused by defects in the insulin receptor (INSR). This receptor is a transmembrane protein. In 1993, the human insulin receptor was found to be located at the locus 19p13. 3, or on the short arm of chromosome 19, in section one-three point three. The insulin receptor is a tetramer of 2 alpha and 2 beta subunits joined by disulfide bonds. The coding sequence consists of 22 exons, with 11 exons coding for the alpha subunit and 11 coding for the beta subunit.

It is postulated that the class I MHC heavy chain is a structural subunit of the insulin receptor. The hormone insulin binds to the insulin receptor from the outside of the cell, but it is not known exactly how this binding occurs. This binding causes the receptor to auto-phosphorylate. This transforms the receptor into a kinase that can then phosporylate other proteins (e. g. insulin receptor substrate, IRS-1). Insulin effects its action through a complex signalling pathway, of which the insulin-insulin receptor binding is only one part. One method of treatment is currently being investigated.

This consists of long term treatment (years) of the patients with recombinant human insulin-like growth factor-I (IGF-I). In a least one Leprechaunism patient, injections of IGF-I prevented the post natal growth retardation and normalized the effects of insulin on glucose metabolism. Further to this, no adverse effects were noticed. Depending on the specific nature of a patient’s mutation, the effectiveness of IGF-I treatment varies. For example, if the mutation affects the phosphorylation ability of the insulin receptor, or its expression on cell surfaces, the IGF-I injections will not be able to normalize the signaling pathway.

At this time for patients with mutations affecting these insulin receptor functions, the only hope that can be offered is one of another treatment to be found sometime in the future. In the past, insulin receptor mutations were screened mostly by direct sequencing. This method is time consuming because it requires determining the entire, exact nucleotide sequence for the whole insulin receptor gene. The Barbetti group decided to try to narrow down the location of the mutation to a small region of the gene, and to then to begin sequencing.

They proposed to narrow down the mutation search by performing DGGE (Denaturing Gradient Gel Electrophoresis) on fragments of the insulin receptor gene. DGGE is different from regular gel electrophoresis because a denaturation gradient is built into the gel. Both parallel and perpendicular DGGE were used to analyze segments of the insulin receptor gene isolated from the patients. When double stranded DNA denatures during the gel run, its mobility dramatically decreases. A very stable DNA duplex will only denature high denaturant concentrations.

An unstable duplex will denature at a lower concentration. Mutant DNA and wild type DNA inherently have different stabilities because of their different nucleotide composition. DGGE can detect the presence of a mutant simply by determining whether there are differences in DNA stability. DGGE decreases the time necessary to characterize mutations by narrowing down the size of the fragment that needs to be sequenced. Of the previously determined mutations, parallel DGGE successfully detected 12 of 16 mutations.

Perpendicular DGGE detected the 4 mutations that parallel DGGE didn’t. The success rate in mutation detection was 100% by these means. DGGE is ideal for diagnostic work in detecting insulin receptor primers. This is because the necessary primer sequences for PCR amplification of the DNA primer have already been designed and published. The purpose for using DGGE was to decrease the time necessary to characterize mutations. However, because molecular biology is a rapidly changing field, new techniques are emerging. One such technique is DNA arrays, (e. g. DNA chips).

Arrays are produced by several companies, such as Atlas Arrays by Clontech, Gene Chips by Affymetrix, and Gene Discovery Arrays by Genome Systems Inc. Commercial screening methods also exist. These screen procedures do not characterize mutations, but detect the presence/absence of diseases. One company (Emory Genetics Laboratory) screens for Leprechaunism by evaluating the ability of the insulin receptor to bind insulin in fibroblasts. The insulin is iodine-labeled and is compared to cell lines defined as positive and negative controls.

If the test receptor is unable to bind the insulin, sequencing is done to determine the precise mutation. Because of its nature, DGGE cannot detect the difference between polymorphisms and mutants. The significance of mutations is left up to the researcher. The researcher must use other sources of information (i. e. active site placement and mechanism, information on binding motifs) to determine if of the residue is critical to the function. The insulin receptor is an integral part of the insulin signaling pathway.

In fact, most people with defective insulin receptors are completely insensitive to the effects of insulin and are severely diabetic. Mutations in the insulin receptor can cause several diseases, such as Leprechaunism, Rabson-Mendenhall syndrome and Type A insulin resistance. Other genetic syndromes sometimes associated with diabetes are Down’s syndrome, Klinefelter’s syndrome, Turner’s syndrome, Huntington’s chorea and Porphyria These diseases do not have completely distinct phenotypes, but are related to the severity of insulin receptor mutation. The more severe the mutation, the more severe the phenotype.

Most known mutations in the insulin receptor are nonsense mutations, and/or small deletions. Because it’s genetic origins, Leprechaunism is a very terminal condition. Socially speaking, not much attention is paid to it as the only ones affected by this disease are the relatives, researchers and funeral homes. Due to it’s rarity and the social stigmata attached to the parents of the patients, it will more than likely remain more of a medical curiosity. Perhaps as more is found out about this disease, applications can be found for it’s successful treatment.

Rasmussen’s Encephalitis Essay

The human immune system is an amazing system that is constantly on the alert protecting us from sicknesses. Thousands of white blood cells travel in our circulatory system destroying all foreign substances that could cause harm to our body or to any of the millions of processes going on inside. Now imagine a condition where this awesome system turns against the most complex organ in the human body, the brain. Deadly as it is, this condition is known as Rasmussens encephalitis.

The meaningful research on Rasmussens encephalitis was begun (unintentionally) by Scott Rogers nd Lorise Gahring, two neurologists, who were at the time measuring the distribution of glutamate receptors in the brain. Later on when more provocative information was found they enlisted the help of James McNamara and Ian Andrews, epilepsy experts at Duke University Medical Center. The details on Rasmussens encephalitis were very bleak at the time when the men began their research.

All that was known is that Rasmussens encephalitis was a degenerative disease of the brain that caused seizures, hemiparesis, and dementia normally in the first ten years of life. The seizures that ere caused by Rasmussens encephalitis were unstoppable by normal anti-seizure drugs used conventionally. What the worst part of the disease was that the pathogenesis for it were not known and even worse was how it developed. The first clue was delivered when Rogers and Gahring were trying to register the distribution of the glutamate receptors using antibodies, that tag on to the receptor itself.

The proteins that make up the glutamate receptors(GluR) are only found inside the blood brain barrier(BBB). Glutamate and a few related amino acids are the dominant form of excitatory neurotransmitter in the central nervous system of mammals. If one of these GluRs happens to wander into the actual bloodstream, that is outside the BBB, it would be considered an outsider and destroyed immediately. So if these GluRs were put into the normal blood stream then the immune system would produce antibodies which could then be used in the searching for the glutamate receptors.

In order to test this theory the researchers injected the GluRs into the blood stream of a normal healthy rabbit hoping to produce good results. At this point the experiment took a dramatic turn, after receiving a few doses of the protein two of the three rabbits began to twitch, as though they were suffering he pain of an epileptic seizure. Now the help of McNamara and Andrews was enlisted. When McNamara and Andrews examined the brain tissue of the rabbits, they saw what seemed to be a familiar inflammatory pattern, clumps of immune cells all around blood vessels.

This description exactly matched the description of persons suffering from Rasmussens encephalitis, moreover something as this would never be found in a healthy brain. A healthy brain has its blood capillaries enclosed in the BBB membrane, so such a case as the one mentioned above would not be possible. As protective as the BBB is, it can be breached by something like a head injury. What was happening was that the antibodies which were out to get the GluR proteins were somehow finding a way into the brain and directing an attack towards all GluR receptor proteins in the brain itself.

After some more examinations Rogers and McNamara decided that these attacks were the cause of the seizures that are often experienced by sufferers of Ramussens encephalitis. Then if the case is of antibodies in the bloodstream, than sufferers of Ramussens encephalitis should have them in their loodstream and healthy normal peoples shouldnt. When this was actually tested the results were positive that Rasmussen sufferers did have these antibodies in their bloodstreams and healthy people did not. These were not only the right kind of antibodies but, the very antibodies that caused the seizures in people and rabbits.

Thus when these antibodies were removed by plasma exchange(PEX) it caused a temporary relief from the seizures but soon the body starts making more antibodies of the type and the seizures start once again. After all the examinations two questions remained, why does the body mount n immune response against one of its own brain proteins, and how do these antibodies get through the BBB? What is thought right now is that people get antibodies when they are infected by a microorganism like a bacterium or a virus that is similar in structure to the GluR.

When this happens the body mounts an immune response against, and it just so happens that at this stage you suffer a blow to the head. This will open your BBB to the antibodies and they will attack the friendly GluRs in the brain, causing seizures and further opening your BBB to more antibodies. Now a malicious rhythm begins: antibodies break through the BBB, inflammation is caused due to the break in, seizures are now caused and BBB opens up further, further opening in the BBB cause more seizures. The inflammation is caused by the autoimmune process against the GluR.

All the seizures occur where the initial break in the BBB happened due to a blow to the head, explaining why they seizures are confined to just one hemisphere. The only problem with this theory is that the rabbits developed seizures without ever being whacked on the head, but that also could be because a rabbits brain is not as well insulated as a humans. Normally what happens to an individual is that after he or she is involved in this cycle the only thing that can make for relief is the recurrent plasma exchange.

This will only cease the seizures temporarily, but they will start again when the body has made more new antibodies. After this has been done many times the hemisphere in which sufferers of Ramussens encephalitis is present will deteriorate to the point where a hemispherectomy has to be performed. This will render the person to mental disintegration where he or she has no more mental capacity and generally to the point of no return, death. Rasmussens encephalitis is a very deadly disease, but it is also a very rare disease, occurring in only 48 people between 1957 and 1987.

As of now there are no FDA approved drugs for the sufferers of Ramussens encephalitis. Now the researchers are working on a drug that will block the activity of this particular antibody, but this could lead to further problems. If this drug is being administered and a bacteria or virus of a similar structure as the GluR is present the body would disregard it and this would cause more health problems. After all this bad news all one can say is, “Good luck” to the ones suffering from this living hell.

The Nature, Transmission, Prevention, and Treatment of the HIV/AIDS

Arthur Ashe is an admirable and well known American tennis player who won many championships. He became the first African American male to win the mens Wimbledon title in 1975. Also, he was on the United States Davis Cup team from 1963 until 1984. Some of his other major accomplishments include helping to form what is now the Association of Tennis Professionals and winning the Australian Open, the United States Open, and the French Open. Ashe lived a wonderful and successful life: however, in 1983, disaster struck! Ashe acquired an incurable disease through a tainted blood transfusion. This disease killed him in 1993.

What is this incurable disease that still haunts the lives of so many people? This is a disease known as AIDS. AIDS is a fatal disease without a cure and a disease that responds to little treatment. How can the spread of AIDS be stopped? This paper will discuss the nature of the AIDS virus, the transmission and the prevention of transmission, as well as the available treatments for people with this disease. First of all, AIDS is an acronym for Acquired Immune Deficiency Syndrome. AIDS is acquired which means that it is not passed down from generation to generation through a persons genes.

AIDS is a disease that attacks the immune system, a system in the body that produces white blood cells in order to fight off diseases. This disease causes the immune system to be deficient, or weakened, so that it cannot properly fight off diseases. AIDS is a syndrome, or a group of illnesses with many possible symptoms that can occur together in a weakened condition. AIDS is a pandemic, meaning that it can be found on all continents. The disease was discovered in 1983, by a French cancer specialist, Luc Montagnier, along with other scientists, at the Pasteur Institute in Paris.

However, there were AIDS cases reported as early as the 1950s. “The 80s will go down as the decade that AIDS began. We want to know, – Why” (Bevan 27)? One of the reasons is the promiscuity of sexually active people during the 1980s and the sharing of intravenous hypodermic needles and syringes by drug users. Secondly, AIDS is caused by the human immunodeficiency virus, or HIV. This virus attacks the antibodies in a persons immune system, thereby disabling that system. HIV works in an unusual way because it uses the immune system to its advantage. Viruses cannot live unless they are inside of a living cell called a host.

The virus uses the host cell to reproduce themselves, causing the cell to die in the process. The new virii are then set free. The HIV virus attacks T4 lymphocytes, which are a special type of white blood cell. These cells are the bodys method of defense. Without them, humans are susceptible to disease and infection. It is not HIV that kills people, but the opportunistic infections people get because of a weakened immune system. Bevan characterizes HIV by saying, “Its the sneakiest virus of all. It goes for the crucial link in the immune system, the cells at the heart of the fightback effort” (Bevan 24).

This is why HIV is so dangerous. Being HIV positive does not mean that a person has full-blown AIDS, and not everyone who gets HIV develops full-blown AIDS. When one fully develops AIDS, the signs and symptoms become more evident. These symptoms include: “a failing immune system, persistent swollen lymph nodes and opportunistic infections” (Stine 114). A common example of a skin disorder caused by AIDS is Kaposis sarcoma. That is, “a multifocal, spreading cancer of connective tissue, principally involving the skin; it usually begins on the toes or the feet as reddish blue or brownish soft nodules and tumors” (Stine 442).

Lymph nodes are gland-like forms that help stop the spread of infection. When they become persistently swollen, one can develop lymphadenopathy syndrome or LAS. This condition can bring on mild symptoms of fever and weight loss. Other signs of full-blown AIDS include oral lesions such as thrush and hairy leukoplakia. People may also develop kidney disorders and gastrointestinal diseases like severe diarrhea that can cause weight loss. Since AIDS is such a serious incurable disease, it is important to know how the disease is transmitted. One method of transmission is via bodily fluids by having sex.

This includes all forms of sex: vaginal sex, anal sex, and oral sex. The transmission also occurs in many other sexual activities. The human immunodeficiency virus can be transmitted through vaginal secretions in women to men by way of the bloodstream. In the same way, men can pass HIV to women in their semen. Men can also pass it to other men by way of bodily fluids if the men are bisexual or homosexual The more sexual partners one has, the greater the risk of contracting HIV. “There is a saying, in terms of AIDS, that when you sleep with someone, you are in effect sleeping with all their partners over the past five years” (Bevan 35).

Another way that one can get HIV is by sharing hypodermic drug needles. “Each time a person uses a needle and syringe, a tiny trace of blood is left inside” (Bevan 10). The blood that is left inside of this needle could contain HIV. When the HIV infected needle or syringe is inserted into ones body, the virus is able to travel into that persons bloodstream, thereby transmitting HIV. Even if the needle appears to be clean, it can still contain HIV infected blood. “A drop of blood too small to be noticed can contain thousands of viruses” (Bevan 11).

Drug users have enough problems to worry about without having to worry about getting AIDS. However, many drug users continue to share their needles because of excuses, desperation, and because sharing needles has become a ritual to develop closeness. Some people believe that if they inject the needle into the right place and dont hit a vein that they will be safe. It doesnt matter where the needle is injected. As long as the needle is contaminated with HIV, there is a possibility of catching AIDS. Other drug users are so addicted and desperate that they would risk anything – even their lives to get high.

For some addicts, the chance of catching AIDS seems less important than missing the next fix” (Bevan 15). Finally, some users share needles in order to feel accepted into the group. People who use drugs are often looking for something to belong to, and they will do anything to feel like they are part of a group. They feel that they need to share needles in order to experience a special bond between themselves and others. It has become a ritual. However, no matter what the reason is that one has to share drug needles, there is never a good one.

It is also possible for someone to become infected with AIDS through a blood transfusion. Since a transfusion involves placing foreign blood directly into the recipients blood stream, the necessary condition for transmission is present, and that condition is the direct contact of potentially infected fluid with susceptible cells in the recipient. This is a method of AIDS transmission that the patient can do little about. Hemophiliacs who received blood transfusions before 1985 are the ones most at risk in this category. Today, there is only a small possibility of someone getting HIV through a blood transfusion.

This is because in June of 1985, hospitals began screening blood to see if it was HIV infected (Flynn 64). Presently, there is only a small chance that the tests will not notice the virus in the blood. “It is estimated that undetected HIV is present in fewer than one in four hundred fifty thousand to six hundred thousand units of blood” (Microsoft Corporation 7). Technicians also pasteurize the blood to assure elimination of HIV. Another way for AIDS to be transmitted is from an infected mother to her baby, either before or during childbirth, or through breast-feeding.

The blood supplies of the baby and the mother are closely linked during pregnancy. Even though the mothers and the childs bloodstream are separated by the placenta, preventing the exchange of cells, the exchange of nutrients, blood, and small particles like viruses are still exchanged. HIV infection during pregnancy mainly occurs during the third trimester because of small tears which sometimes occur in the placenta. “Current statistics indicate that there is about a 50% chance that an infected mother will produce an infected infant” (Conner 149). Most infected children die before the age of five years (Conner 151).

Even uninfected children born to HIV-infected mothers have an incidence of heart problems 12 times that of children in the general population” (Microsoft Corporation 7). It is important that people realize that they are not only putting themselves at risk, but also the lives of others. However, it is not possible for a person to contract AIDS by casual contact. AIDS cannot be transmitted by simply touching someone, going to school with someone, or even hugging someone. In order for HIV to be transmitted, an exchange of bodily fluids must occur. There is no other way.

Additionally, HIV is unable to reproduce outside its living host; therefore, it does not spread or maintain infectiousness outside its host” (Microsoft Corporation 7). It is also impossible for HIV to be spread by insects. Many people, however, believe that mosquitoes and other sucking insects can do so. However, HIV can only live for a short period of time outside of a cell, or host, and therefore, cannot infect the insect. So, if the insect is unable to be infected, then the insect is unable to infect human beings. Knowing the methods of transmission enables us to know how to prevent the AIDS virus.

One way to prevent the spread of AIDS is by practicing abstinence or by having safe sex. Abstinence is defined as not having sex at all, and it is the safest practice. However, if one feels that he must have sex, then safe sex should be practiced. Safe sex involves the use of a condom, according to the instructions on the packet. Latex condoms are the best condoms to use. One should also limit his sexual partners. The more sexual partners one has, the higher the risk of contracting AIDS. There are also many other sexual activities with a lower risk other than having actual sexual intercourse.

These activities include: “self masturbation, dry kissing, mutual masturbation, and wet, deep kissing” (Bevan 36). Anal sex is the riskiest form because the linings in the anus are more sensitive, and are more likely to tear, enabling HIV to travel into the body. If one refuses to practice abstinence or safe sex, he should be regularly examined by doctors in order to know if he has contracted AIDS or another sexually transmitted disease. By knowing, he can get treatment and can then be more careful when around others so that they will not get a disease, also.

Another way to prevent AIDS transmission is by not handling or sharing any hypodermic drug needles. Many people do not believe that AIDS is transmissible by sharing drug needles because the HIV seems to be taken outside of the body first and then passed on. This does occur, however, it is in a syringe, and blood cells are not exposed to the environment because of this. “Also, it is usually done within a very short period of time, usually within seconds, or, at most, minutes” (Conner 150). Thus, the safest way would be not participating in any drug activity.

Prevention of this mode of transmission involves breaking the link between individuals and the syringe. However, if drugs are used, and needles are shared, the needles should be properly sterilized. Having sterile needles available for free is in debate in many communities, and in some places in effect, especially in highly populated urban areas. A health worker says, “Free needles will support the drug community, but arrest AIDS spread” (Bevan 12). Finally, in order to prevent the spread of AIDS, one must be aware of the fact that it is possible for anyone to get HIV.

Many people believe that AIDS is a disease for certain stereotypes such as homosexuals and drug abusers. However, this is not true. Anyone can get HIV, no matter who he is. As mentioned earlier, Arthur Ashe, one of the worlds best tennis players, contracted HIV through a blood transfusion. He was not a homosexual and he did not share drug needles. However, he contracted HIV and it killed him. Another devastating case of AIDS was the well known movie star, Rock Hudson. Hudson is, “a Hollywood legend and undisclosed homosexual. He was the first major public figure to reveal he had AIDS.

Hudson died in 1985 at age 59” (Stine 59). Hudson, unlike Ashe, could have prevented his contraction of AIDS, however, he was frivolous and therefore contracted AIDS. If you ever have sex, use drugs in non-sterile needles, or come into contact with any form of bodily fluid, there is a possibility of contracting HIV. True, there are people who are more at risk than others. These people are: “Hemophiliacs who received contaminated blood before 1985. People who have lived or traveled to Central Africa (over the last 15 years) and had sexual relationships there. Homosexual and bisexual men.

People who share needles to inject drugs” (Bevan 51). However, just because one does not participate in any of these risky activities does not mean that he should not be careful. As stated before, one cannot tell if somebody has AIDS by looking at him. Therefore, people must be careful and protect themselves. Now that we know the methods of transmission, and the prevention of AIDS, we need to know what kind of treatments are available in case AIDS is acquired. One way to treat AIDS is by using a drug called retrovir zidovudine or asizidothymidine, which is commonly referred to as AZT.

As stated earlier, AIDS is an incurable disease. There is also no vaccine for AIDS. The drug AZT can delay the progression of AIDS in some patients. “Clinical benefits from AZT may be apparent within six weeks of therapy; and continued treatment prolongs survival” (Stine 131). Also, new research shows that women with AIDS who receive AZT drug therapy during their pregnancies and give birth a C-section delivery may be providing their babies the best protection against HIV infection. Unfortunately, the drugs capability to prolong the life of an AIDS patient declines with time.

Also, this drug does not stop the spread of HIV to other people. There are also other medicines available, and many are still in testing. Another form of treatment is alternating therapy. Alternating therapy consists of taking different drugs on and off. It gives peoples bodies an opportunity to mend from the side effects of each drug. Patients can alternate between AZT and other drugs. It is possible in some cases, not to suffer any side effects if the alternating drugs are taken correctly. Side effects can also be stopped before they start if alternating therapy is used.

A further method of treatment for AIDS is treatment of the opportunistic infections caused by the breakdown of the immune system. Most commonly, people die from the cancers and other opportunistic infections caused from AIDS rather than from the virus itself. “The most common opportunistic infection seen in AIDS is Pneumocytis carinii pneumonia (PCP), which is caused by a fungus that normally exists in the airways of all people” (Microsoft Corporation 4). This is a serious, life-threatening disease. Therefore, the better the infections are treated, the longer the person may live.

The bad point of this is, “treatment for an OI is lifelong because of relapse if it is stopped” (Stine 116). Since the immune system is what is being attacked, the body cannot fight off the disease without drugs. If treatment for opportunist infections is stopped, a relapse is almost definite. Some of the newest treatments include more antiviral therapies, immune system boosters, and triple drug therapy. These are still in testing. Each new approach and drug must be extensively evaluated for safety and effectiveness.

So far, the immune boosters are not very effective. These are used to help the immune system fight off HIV. However, the triple drug therapy, which consists of indinavir, zidovudine, and lamivudine, have been prosperous. Triple drug therapy, also known as cocktail therapy, can suppress HIV for at least two years. The main problem with these drugs is that testing is a long process. There have been many derogatory comments towards the FDA, or Federal Drug Administration, concerning the length of testing.

Therefore, policies have changed in order to give quicker approval. However, “early availability of a drug entails the risk that it may be used in people before its toxicity and side effects are fully understood” (Stine 337). However, many people with AIDS are willing to take this risk with the hope that the drug may prove effective. In conclusion, AIDS is an incurable disease with few treatments, caused by HIV, transmitted by way of bodily fluids. AIDS is mainly transmitted through sex and sexual activities, and by sharing hypodermic drug needles.

Sexual transmission is most dangerous if there are many sexual partners, and if there is not use of a condom. Transmission via blood transfusions has become almost absent, thanks to blood screenings. Scientists are working hard on treatments and are working for a cure, however, it is lacking to be found. A World Health Organization official says, “AIDS… will test our fundamental values and measure the moral strength of our cultures” (Bevan 6). We are the only ones who can stop this pandemic. There is a way.

The Diagnosis Of Diabetes

Diabetes is rapidly becoming a national epidemic. An estimated eighteen million Americans have diabetes and the number is growing, especially among children. The Centers for Disease Control and Prevention (CDC) reports that between 1990 and 1998, the incidence of diabetes rose by 70% in the population aged 30-39, by 40% among those 40-49, and by 31% in the 50-59 age group. Even more frightening is the fact that it is estimated that as many as 33% of the population with Type I diabetes and up to 55% with Type II go undiagnosed.

Many patients have been hyperglycemic for at least six years before diagnosis. Many chronic complications have been implicated with the diagnosis of diabetes. Keeping these conditions in check is vital. Retinopathy is damage to the small blood vessels in the retina. It is important to note that there are no early warning signs for retinopathy. Annual eye exams with an ophthalmologist is imperative to catch this condition early. Retinopathy is the most frequent cause of new blindness and is related to the duration of the diabetes and also to the level of glucose control.

In the nonproliferative stage there may no evidence of disease in the retinal vessels or there may be signs of beginning damage, such as yellow deposits. Microaneursyms, or intraretinal hemorrhages may be seen on exam. In this stage the treatment is blood pressure control, blood glucose control, and annual dilated eye exam. In the proliferative stage there is abnormal, fragile retinal vessel growth, vitreous hemorrhage, and vision loss. Common complaints are blurred vision, or spots and cobwebs in the visual field.

Treatment for this stage is photocoagulation, which involves 1200-1600 scatter burns throughout the periphery of the eye, surgery for retinal detachment, and vitrectomy for persistent vitreous hemorrhage. The third phase of retinopathy is maculopathy, or macular edema. This involves a loss of central vision and the treatment is photocoagulation with argon laser. Retinopathy (treated or untreated) may worsen with exercise that increases intraabdominal pressure. This would include stretches, isometrics, rapid head movements, weight lifting, excessive jarring movements, and repetitive low head position movements.

Another complication associated with diabetes is nephropathy. The kidney’s filtering ability lessens and allows waste to remain in the blood. There are no early warning signs. Interestingly, 95% of patients with nephropathy also have retinopathy. Diabetes is the most common cause of ESRD (End Stage Renal Disease) and accounts for 30% of all cases. Native Americans, and Hispanic Americans are at higher risk that their white counterparts. Renal failure occurs in 5-15% of patients with Type II, and 30-40% with Type I diabetes. Renal disease is classified in stages from I-V.

Stage I begins at diagnosis and there are no symptoms, although there may be renal hypertrophy and hyperfunction. Microalbumin levels are normal. Stage II usually begins after about two years. In this stage there are no symptoms, although there may be structural changes such as glomerulosclerosis. Stage III usually occurs after approximately 7-15 years and is accompanied by hypertension and a positive microalbumin level. Stage IV starts at 10-30 years after diagnosis and includes proteinuria. Stage V is ESRD and usually occurs 20-40 years after diagnosis.

Dialysis is the temporary treatment until a transplant is possible for end-stage renal disease. Onset of nephropathy may be prevented or delayed by blood sugar control, tight blood pressure control, ACE inhibitors, and microalbumin screening. This screening should begin at diagnosis and then be done annually with Type II, and for Type I screening should begin around five years after diagnosis and then done annually. Other renal threats to watch for in diabetic patients are urinary tract infections, and neurogenic bladder.

It is important that a urinalysis be performed at every visit with the doctor, especially for older individuals. Positive cultures should be treated with antibiotics. Neurogenic bladder symptoms include frequent voiding, nocturia, incontinence and frequent urinary tract infections. If pharmacologic therapy does not prove to be successful, intermittent straight catheterization 2-3 times a day will be necessary. Peripheral neuropathy is the most common long-term complication of diabetes. Distal nerves of the hands and feet are the first to be affected.

There are varying degrees of severity and the diagnosis usually comes late in the process after damage has already started. The process is irreversible and there is no specific treatment, except to treat the symptoms. Symptoms begin with parathesia, then progresses to burning pain and aching (usually more intense at night), to numbness and tingling, and finally to loss of sensation. Loss of protective sensation (LOPS) is the #1 cause of foot injuries, ulcers, and amputations. An annual foot exam with monofiliment testing is essential for diabetics.

There are over 50,000 lower extremity amputations from diabetic complications every year. Some of the risk factors for diabetic foot include LOPS, vascular insufficiency, limited joint mobility, obesity, impaired vision, poor glucose control which leads to impaired wound healing, and poor footwear which causes tissue breakdown. Vascular signs and symptoms of diabetic foot include cold feet, intermittent claudication of calf or foot, pain at rest (especially at night), absent pedal, popliteal, or femoral pulses, prolonged capillary filling time (>3-4 seconds), and decreased skin temperature.

Neurologic signs and symptoms include burning, tingling, or crawling sensations, pain and hypersensitivity. There may also be diminished to absent sweating, and diminished to absent deep-tendon reflexes. Musculoskeletal signs and symptoms include a gradual change in foot shape, foot drop, rocker-bottom foot, or cavus feet with claw toes. Dermatologic signs and symptoms include slow-healing or non-healing wounds, necrosis, cyanosis, redness, chronic scaling, dryness, and itching of the feet. There may also be recurrent infections such as athlete’s foot.

Diligent foot care should be taken to avoid amputation. High-risk patients need to be identified. This would include those people with peripheral vascular disease, LOPS, neuropathy, foot deformities, and either a current foot ulcer or a history of one. Referral for foot care and special shoes or inserts if necessary should be considered. Diabetic patients must be taught the importance of reducing modifiable risk factors such as smoking, hypertension, hyperglycemia, hyperlipidemia, and obesity. Foot ulcers must be managed aggressively with non-weight bearing treatment.

A daily foot inspection along with checking the inside of shoes daily is important. Pain is not always a reliable indicator of problems. Regular foot evaluations by a physician with monofiliment testing are essential to maintain healthy feet. Another complication of diabetes is macrovasular disease, which involves multiple assaults on the vascular system. The three most common are coronary artery disease, cerebral vascular disease, and peripheral vascular disease. Coronary artery disease accounts for 50-60% of all deaths in diabetic patients.

The mortality rate from cerebral vascular disease is 3-5 times greater in the diabetic population, and 50% of all nontraumatic lower extremity amputations are related to peripheral vascular disease in diabetic patients. Risk factors are hypertension, hyperglycemia, hyperlipidemia, smoking, inactivity, obesity, and age. Interventional treatments would include aggressive treatment of hypertension, cessation of smoking, optimal blood sugar control, exercise, treatment for hyperlipidemia, and proper nutrition. Precaution should be taken in patients with macrovascular disease when exercising.

Creutzfeldt-Jakob Disease (CJD)

Creutzfeldt-Jakob disease (CJD)a fatal neurodegenerative illness, is one form of transmissible spongiform encephalopathies (TSE) affecting humans. The suspected causal agent of these diseases is the priona proteinaceous infectious particle. Designated as PrPSC, this infectious protein is unique in that it does not contain nucleic acid, which is different from a virus, yet has the capability of replication and being transmitted to other hosts. This capability of transmission poses a major problem in that the detection of the disease caused by this prion while the individual is in the incubation phase is not currently possible.

Hence the disease may be accidentally transmitted to another individual through medical proceduresas seen in the case study presented. Throughout the 20th century, various case studies evolved and were compiled to form a sketchy descriptive pattern for Creutzfeldt-Jakob disease. However, as time progressed, new forms of CJD emergedusually as an epidemic, presenting similar yet distinct prodromal and clinical patterns. Accumulation of data has led to a finer delineation of symptomology and sub-type classification of the disease.

Yet a test to definitively show that the individual has the disease during incubation is not currently available. With different methods of transmission and completion of the incubation periods, various epidemics have erupted. Those points in time have been reflected within the literature, e. g. iatrogenic CJD through growth hormone (HgH). Current known forms of CJD are sub-typed as sporadic (spontaneous), familial (genetic), new variant and iatrogenic (acquired by accidental medical introduction). Documentation of the transmission of Creutzfeldt-Jakob disease through blood products and other similar tissues is very limited.

Currently, there are no cases found in the literature reflecting the onset of the disease via immune gamma globulin (IgG) treatment. One major reason for this may be due to the fact that even if the disease is transmitted, the incubation period may span beyond an individual’s lifespan. Therefore, the individual will die incubating the disease, never entering the clinical phase. Each of the different categories of the disease presents various clinical and neuropathological symptoms and patterns at onset and throughout the course of the disease.

The prion strain, codon 129 and method of infectivity (exposure) are contributing factors in the incubation period and clinical presentation of Creutzfeldt-Jakob disease. Prion strains present various protein sizes which are currently described as type I-IV. Each type is associated with a specific subtype of the disease, e. g. type I and II are associated with sporadic Creutzfeldt-Jakob disease. Heterozygosity on codon 129 has shown to act as a protective barrier to the disease by prolonging the incubation period or may prevent acceptance for transmission.

Homozygosity on codon 129, however, places an individual at a higher risk level for contraction, produces a shorter incubation period and more severe symptomology and/or pathology. Codon 129 may also affect the age for onset of the disease. Currently, sporadic CJD (sCJD) is the most prevalent strain occurring in humans, representing 80-85% of the reported cases of Creutzfeldt-Jakob disease. Hypothetically, this particular strain occurs spontaneously, i. e. idiopathic, and may be transmitted to other humans medically through use of tissue/blood products/procedures.

Familial CJD (fCJD), however, may be genetically traced through family lines. Various specific mutations on the prion gene (PRNP) create a predisposition for family members as to the onset, course and severity of the disease. Knowledge of the symptoms and course of the disease has become more urgent due to the recent epidemic of bovine spongiform encephalopathy (BSE) in cattle in the United Kingdom and the link to new variant CJD (vCJD) in humans as a possible species-barrier crossover.

Since one possible link for transmission is that of consumption of infected beef, a possible epidemic of vCJD may be seen to emerge in the next few years. Another concern related to vCJD is the transfer or transmission to another individual through tainted medical supplies, e. g. , blood products, while the individual is in the incubation period or prodromal phase of the disease. Transmission of this type would be recognized or categorized as iatrogenic, i. e. acquired from another source outside of the host through tainted medical supplies/procedures.

Normal or generally accepted sterilization methods that destroy bacteria or viruses do not work on prions. Inactivation of prions requires extremely rigorous methods that would destroy tissues and many surgical instruments in the process. Individuals incubating any of the previous forms of CJD may inadvertently transmit the disease through blood/tissue donor products or through contamination of surgical instruments during a surgical procedure. This is the final known form of Creutzfeldt-Jakob disease and is dependent on the other forms of the disease for existence.

The course of the disease may be presented with a short or lengthy incubation period depending on the method of transmission, i. e. centrally or peripherally. To further complicate the transmission of the disease, many of these products are not held within an individual’s community but are processed as a batch and become exported to other countries. Therefore, the possibility of transmission through tissue products is not restricted to one specific region or population due to economic globalization and interdependency.

This has been the case and continues to be the case for the transmission being reported in various areas of the world. The case study currently presented is one such incident where the contaminated product was imported into the United States from Canada. Through that producttainted immune globulin gamma (IgG), transmission of Creutzfeldt-Jakob disease occurred during peripheral medical procedures. The case has created numerous diagnoses, complications and confusion among those involved. Resources available continue to be maximized to minimize the effects that maintaining appointments and traveling have on the individual.

Involvement with the individual and the family will be continued until the diagnosis/results are definitive and support or participation are no longer desired. Purpose This research project follows an individual through the course of events surrounding the progression of a possible onset of iatrogenic Creutzfeldt-Jakob disease transmitted through tainted immune gamma globulin (IgG). The treating physician informed the individual about the infectivity after several months of treatment. Approximately 6 years later, the individual has begun to rapidly display symptoms of the disease.

The purpose of the research is to: Provide a detailed account of the symptomology, duration and severity displayed at onset and throughout the course of the disease presented; Identify polymorphisms on codon 129 or PRNP mutations, if any; and Extend or enhance the existing database of the disease through differential diagnosis or actual iatrogenic CJD information. Limitations Information gathered in a case study is intense for a particular individual which may place limitations on the extrapolation of findings to the general population.

There will be no other person exhibiting the exact symptoms with the same degree of severity or duration. Comparative analysis will be made from other peripheral iCJD cases since there is no known case for IgG iCJD. Re-enactment of the research data obtained cannot be replicated. Researcher bias may also be present though not intentional. Responses from the individual may not reflect the true degree or level of symptomology being experienced, i. e. the individual generally minimizes actual events occurring which may be out of denial, fear, hope, optimism, etc.

Research Questions Primary Question Question 1: If the case is iCJD, then what prodromal and clinical patterns will evolve during the course of the disease? Secondary Questions Question 2: Will this case follow peripheral transmission patterns similar to HgH or be unique in duration and degree of severity? Question 3: If a polymorphism has occurred on codon 129, what is encoded? Question 4: Are any mutations occurring in the open reading frame (ORF) of the prion protein gene (PRNP)? Question 5: What differential diagnoses will be ruled out? Definition of Terms

Ataxiarefers to the physical movements of the individual which are presented as a staggering gait and imbalance. This symptom is one of the triad associated with Creutzfeldt-Jakob disease. Bovine Spongiform Encephalopathies (BSE): is a prion disease affecting the bovine or cattle populations that has possibly crossed the species barrier to humans through contaminated meat products and has been transmitted to zoo animals and domestic cats via contaminated food products. Codon 129: refers to the 129th marker or segment of the prion gene and is encoded with methionine and valine.

This area may entail a non-disease causing polymorphism that may increase the risk factors and symptomology of Creutzfeldt-Jakob disease. Dementia: is one of the three symptoms generally associated with Creutzfeldt-Jakob disease characterized by cognitive decline (thought processes and memory) that is not reversible. Dura mater graft: is the membrane surrounding the brain that has an enormous flexion and durability. This tissue is used to repair other areas of body tissue, organs, or neurological damage. The membrane has been implicated as one form of iatrogenic transmission.

Electroencephalogram (EEG): is a procedure which measures the electrical impulses or activity within the brain. In various forms of Creutzfeldt-Jakob disease, this activity is characterized by a triphasic wave pattern, i. e. 3 pattern stages. Endogenous: refers to the process of the disease to be formed from within without external sources. Sporadic CJD is such a form of disease. Exogenous: is the antonym of endogenous, i. e. the disease originated outside of the body and has gained entrance (transmission). Iatrogenic and new variant CJD are examples that reflect this process.

Familial Creutzfeldt-Jakob disease (fCJD): a form of Creutzfeldt-Jakob disease that is inherited or has a genetic basis of origin. Heterozygous: refers to the amino acids encoded on codon 129. The pair which would be present is methionine and valine and may act as the human species barrier for this disease. Also implicated with heterozygosity is increased length of the incubation period and the decreased severity and duration of the disease. Homozygous: represents the polymorphism that has occurred at codon 129 and is presented as methionine/methionine pairing or valine/valine pairing instead of the heterozygous pairing of methionine/valine.

This change decreases the incubation period and increases the risk, duration, and severity of the disease. Iatrogenic: is a condition which has been accidentally caused by medical personnel or a medical procedure. Within the medical community, this condition or act is sometimes referred to as “therapeutic misadventure. ” Iatrogenic Creutzfeldt-Jakob disease (iCJD): is the form of the disease which has been caused by a medical procedure due to contaminated material or equipment. Immunoglobulin G (IgG): represents one of 5 different antibodies manufactured by the body.

This antibody protects or establishes a defense against harmful bacterial, viral, and fungal agents. Also known as immune globulin gamma. Intraperitoneal: refers to the area within the peritoneum cavity (abdominal cavity). Lymphoreticular system (LRS) : includes the spleen, lymph nodes, and tonsils. The system transports blood components used to fight infections and diseases and has been associated with the clearing and possible transporting of the prion protein. Macrophage: refers to a specialized cell that is capable of phagocytosis, i. e. to eat or destroy microorganisms or other diseased or dead cells.

Methionine (Met): an amino acid encoded on codon 129. If homozygous, then listed as Met/Met; if heterozygous, listed as Met/Val. Mutation: refers to the permanent change of a codon on the prion gene (PRNP) that is disease related. Myoclonus: is characterized by spasms within a group of muscles. These spasms may occur sparingly or frequently within the disease. Phagocytosis: is a process that a specialized cell initiates in removing a microorganisms, diseased, dead or dying cell, or debris from an internal system within the body. The literal translation from Greek is “to eat. ”

Plaques: used in this context refers to the neurological condition from the build-up seen within the various parts of the brain due to the prion protein. Prion: designates the term given to proteinaceous infectious particle which is the primary disease causing-agent of CJD. The term is pronounced pree-on. PrPC: is the abbreviation given to the cellular nonpathogenic prion isoform. PrPSC: designates the pathogenic prion isoform. PRNP: refers to the prion gene. Prodromal: is an element of time which refers to the symptoms/characteristics of the disease that occur prior to the clinical phase.

Symptoms that commonly occur or are seen in the general population are included in this phase, e. g. depression, forgetfulness or irritability. Species barrier: is a phenomenon that prevents or deters the transmission of disease occurring in one species to another. In the case of CJD, if a crossover does occur, then the length of incubation is seen to typically increase and the areas of tissue in the brain affected also differ. Sporadic Creutzfeldt-Jakob disease (sCJD): the most common form of the disease that occurs idiopathically, i. e. without a known cause.

Transmissible spongiform encephalopathy (TSE): is the name given to the category of prion diseases effecting animals and humans. The disease is capable of being transmitted within the species, and destroys brain tissue which takes on the characteristic of a natural sponge, i. e. full of holes. Valine (Val): one of the amino acids found on codon 129. Variant Creutzfeldt-Jakob disease (vCJD): the form of CJD associated with the species barrier crossover from BSE or mad cow disease found in Europe. This form is also known as nvCJD or new variant CJD.

Primary Approach for Data Collection A qualitative design using observation, interviews with the individual and medical personnel involved, as well as reviews and analysis of written reports/tests and literature was the primary approach for data collection. The individual case study provided the opportunity to find answers to questions or solutions to a problem since human experiments involving CJD are unethical. This method provided a comprehensive, detailed account of the progression/characteristics of the disease being experienced.

A compassionate outlet was provided for the individual in that his/her concerns or fears were openly discussed and clarified. Therefore insight into a thought process or emotional aspect that others with this disease may also have experienced may be provided. Also, the individual may find relief or comfort in talking and being heard. The data collected was analyzed according to the previous established patterns displayed by other types of CJD, i. e. was a relationship established.

Implementing qualitative methodology in this case study, took an individual’s specific concerns to larger social issues surrounding concerns of medical risks associated with supplies and procedures and identification of the characteristics/symptomology of the disease itself. Selection of Research Population The original research project did not revolve around this individual even after the accidental discovery that CJD had been transmitted many years ago. At that time, the individual displayed no clinical signs of the disease and was relatively healthy. Within a few weeks, the entire health related picture began to change.

A very complex scenario began to emerge for everyone involved, as did uncertainty as to whether to even approach what was being seen. I was skeptical due to the rarity of the disease, the mimicking symptoms presented by other diseases, and the lack of specificity of diagnostic tests. After careful deliberation with various professionals, the decision was made to go forward following the course of this individual. The disease could “not” be ruled out, but also could not be positively diagnosed since this required postmortem brain tissue biopsy or premortem brain biopsy.

The later procedure placed this individual at risk. A final comment cemented the course of the dissertation: regardless if this is iCJD or not, you will be gathering information that will be important for disease identification. If you choose not to proceed, the complete intricate package of information will be lost Benefits Derived from Study This case study of an individual with possible onset of Creutzfeldt-Jakob disease via IgG has been done to provide: Beneficial information which expands or enhances the data base on the disease since the information is rich in detail and may be an index case;

The interaction of factors at play within the disease which included incubation period, method of transmission, codon 129 and the prodromal, clinical and differential diagnostic characteristics of the disease; and An awareness as to the risk factors of transmission which may have bearing on public health policies. Summary The objective of the research was to determine if the peripheral transmission of Creutzfeldt-Jakob disease via contaminated IgG would follow the same or similar disease course characteristics as other types of peripheral iatrogenic CJD cases.

Research focused on the behavioral, cognitive and motor functions in relation to those seen in various forms of CJD at various stages of the diseasewhether typical or atypical. Medical records, literature reviews and interviews/consultations with the individual and medical personnel were made to gather and analyze data. All of the data was compiled to determine whether the disease characteristics displayed indeed followed the distinct patterns of the disease or if surprises waited around the corner.

The Narcolepsy Disease

Narcolepsy is a disease that has been on the receiving end of many jokes in our society. Yet it is a serious and life altering disease that is no laughing matter to the 1,000 in every 2,000 people in the U. S. that have it. I was drawn to this article because a former supervisor that I worked with had this disease. She was prescribed the drug Ritalin. It always impressed me that she could confront an angry client or give a speech without succumbing to the symptoms of her disease.

She revealed that her case of narcolepsy wasn’t that bad, but without the Ritalin she would just fall asleep anywhere. “The overall incident of narcolepsy is about 10 times that of Lou Gehrig’s disease, half that of multiple sclerosis, five times that of cystic fibrosis, and about one quarter that of Parkinson’s disease. ” Narcolepsy is a chronic disease, but not a progressive one. It is a puzzling neurological disorder that causes cataplexy, the loss of skeletal muscle tone without loss of consciousness, and persistent daytime sleepiness.

Cataplectic attacks of narcolepsy can be triggered by exceedingly strong emotions such as laughter, embarrassment, anger, and athletic or sexual exertion. In tests on narcoleptic dogs, Emmanuel Mignot of Stanford and his co-workers identified a gene responsible for narcolepsy in dogs. “His research group determined that the dogs carry a mutation in the receptor for a neurotransmitter called hypocretin or orexin. ” These receptors are missing a critical part, so they can’t respond normally to messages they receive.

This is a recessive trait in the canines. However, they state that it is unlikely that most human narcoleptics have these mutated genes. Most narcoleptics have no narcoleptic relatives, and the disease does not occur until the second or third decade of life. Also, they have concluded that in 75 percent of the cases in which narcolepsy occurs in an identical twin, the other twin is unaffected. This, they say, indicates that environmental conditions are important in human narcolepsy.

What environmental conditions are they? Damage to the hypocretin/orexin system due to environmental factors may mimic the symptoms caused by mutations. They feel that narcolepsy may be an auto-immune disease, in that the body turns against one of its own tissues are cell types. “The next step will be to determine whether the immune systems of narcoleptics are mistakenly targeting the hypocretin/orexin receptors in their own brains as foreign. ” according to Jerome Siegel.

There are no concrete answers at the present time. Just hypotheses. Right now the only thing that science has to offer a narcoleptic is drugs to control their symptoms. For which I am sure that the sufferers of this disease are very grateful. We never seem to care about a disease until it strikes us or a loved one or friend. I’m thankful we have scientists out there who are working on answers to the causes and cures of various diseases, that hopefully, we may never have occasion to know about.

Mad Cow Disease

Mad Cow disease has been heavily spoken about on the international news. Our hopes are that the disease will not spread into the United States, even though several people have died from the disease. Our initial purpose of researching this topic has been inspired by the growing concern for the outbreak of Mad Cow Disease and it’s various forms. We believe that it is imperative that we take our research and implement it to others along with facts in order to generate concern for other countries regulations, United States regulations, health concerns and economical awareness.

Our research is based on much information accessed by the Internet, news journals, books, television broadcasting and 86 general public polls taken by our group. Imagine yourself sitting down at your local McDonalds biting into that delicious Big Mac. The same as you always order when you come to McDonalds, but this time is different, this time the meat that you ingest is infected with a deadly prion that is still in the meat, even after cooking it. This deadly prion comes from a cow that has had Mad Cow Disease. The cow was butchered and sold before dying of the disease, and before showing any real symptoms.

Now your probably thinking if I do not eat cow meat then I am safe from this disease. Well imagine putting on your lipstick or several other types of facile creams and other common products that you use every day only to find that you could still be infected with the CJD disease. CJD is caused by ingesting or using a product that has been infected with Mad Cow. It is very possible to be infected by any products that are used from cows, if the United States is lenient on their regulations and laws related to this issue.

Mad Cow Disease is the disease that infects cows, but it could easily affect every single one of use too, even if you do not ingest the meat. Mad Cow Disease should be taken very seriously because it can affect the whole world, even if your country is unaffected by the disease. Mad Cow is not a new disease, for it has been around for a few decades. Precautions and regulations should have been set for European countries and the United States a long time ago. Luckily the United States has been blessed with the geographical difference from the rest of the commotion going on in the European nations.

This paper discusses the history and the time of infection for most of the counties in the infected areas; furthermore, the economic agriculture affected in countries, and the economic effect on the United States; and what exactly the government and other countries are doing to protect themselves and other nation from the spread and incubation of this disease. What is Mad Cow Disease? Mad Cow Disease “is a normally extremely rare neurological disorder that affects the central nervous system of an animal and a human.

The disease infested brain of the animal or human is slowly, progressively, and severely damaged. It has been categorized as a disease, which falls into the category of a disease known as Spongiform Encephalopathy. Having Bovine Spongiform Encephalopathy is an over-dramatized way of specifying that one has diseased brain tissue which is; spongy, porous, and no longer in tact”(Brown 1). Cattle that are affected by this deadly disease will obviously have some clinical signs.

They will show signs of aggression, atypical posture, difficulty in rising, decrease in milk production, and eventually the affected cattle will die (Clinical Signs BSE). The disease, discovered in Europe, has spread its degeneration and has culminated since 1980 and continues to spread its degeneration from across the seas to our melting pot. In the week of January 28th – February 2, 2001 Lexis Nexis reports 719 press releases expressing the severities of Mad Cow Disease, in which half of the stories originated from England (McArthur 1).

How does this dreadful disease that affects humans and animals occur? First discovered in slaughtered sheep and unmanageable cattle, which were killed due to difficulties in monitoring their behaviors and actions by their owners. After the sheep and cattle were slaughtered, autopsies where conducted, in which the Encephalopathic brain consistency was found, which can be described as a brain that becomes porous in physical actuality and appearance. It has been noted that cattle harvests are fed sheep bone meal as a supplement to their normal diets.

Some sheep that are made into bone meal carry a disease called Scrapie, which causes Mad Cow Disease in other animals that feed off this bone meal. One conclusion to the development and spread of Mad Cow Disease could be made that a cow digested some Scrapie (a infested sheep) bone meal, thus causing the cattle to develop the infections through spreadingagent know as Prion, which is an acronym for proteinaceous particle. Prions are small, fast moving and destructive particles that the humans and animals can cultivate.

Prions are dominant and being so, allows them to be unconquerable so that they can “pass through a filter that stops most viruses, survive thermal, radiation and chemical treatments and contains no DNA and RNA (University of Wisconsin 1-4). The growing concern for the existence of this disease has been brought about due to several cases of illness, which are imminent to death and have been brought to the public’s attention; just due to each individual consuming eighty or more meals of beef that were contaminated with Mad Cow Disease.

It has also been noted that in the last ten years, there have been 1. 5 million BSE infected animals, which can be easily detected through autopsy (Martin 1-3). All of the people who have been diagnosed with the disease have undergone a hefty battery of tests, which included a CT scan, ECG, bone marrow, lumbar puncture, chest X-rays, an endoscopy and blood tests; even though the disease was present, it did not show up in any of the pre-mentioned tests.

The disease is a transmissible infection however, not communicable, which in order to contract, requires intimate contact with the affected material, usually through eating” (Martin 1-3). There are several forms of this disease, which will be discussed furthermore; they include vCJD (Creutzzfeldt-Jakob Dementia), which affects humans, and DCS (Downer Cow Syndrome), which affects the 100,000 cattle which die per year from the disease (Klepper 1). Even though the disease is difficult to detect with medical tests, there are symptoms of the disease. Physical symptoms include sore joints and muscles.

Psychiatric problems include personality changes, depression, difficulty sleeping, withdrawal, fearfulness, paranoia and possible Alzheimer’s disease (Lawrence 6). When a cow’s immune system is contaminated with the Mad Cow disease; the side affects include drooling, wobbling (such as a drunken state), holes that form in the brain, and then, just falling over dead. The incubation period of this disease can be as long as ten years (8). It can be something to think about since this disease was discovered in U. S. n 1985, yet more research at this current time.

For preventative measures, Public Health control includes the culling of sick animals or banning specified risk materials (SRM’s), or a combination of these, have been instituted in Europe to prevent potentially BSE infected tissues from entering the human food chain. People can minimize or alleviate their intake of beef or reduce there intake and consume solid pieces of muscle meat which does not contain any spinal cord and brain matter versus hamburger meat, which may have contaminated tissues that carry the BSE prion. This is due to the fact that hamburger meat derives from muscle taken from the cow’s spinal cord.

The spinal cord is linked to the cow’s brain, thus causing fragments of brain tissue, which can possible have the disease. Our research indicates that it is not likely that a human will get BSE from milk and other dairy products. Even though the disease is not likely transmitted through dairy products, countries such as Germany and France have strict search regulations pertaining to food, even down to a slice of lunch meat has been inspected, so they claim (McArthur 1). It can be concluded that blood transfusions may pass on the disease.

In Europe, predominantly the United Kingdom, blood transfusions were restricted due to the large possibility of BSE being transmitted. English hospitals are reporting that vCJD can be transmitted through the use of unclean surgical instruments. Brittish Ministers are also requiring the use of disposable instruments to be used in tonsillitis surgeries in order to prevent spreading of the disease, a new decontamination process with current state-of the art procedures for multi use surgical equipment and task committees to address Mad Cow Disease issues (Times News Paper 1).

The British believe that this scare will bring Europe closer in their fight to stop the spreading of the disease and also devise a system that will prevent the disease in its entirety. Classical Creutzfeldt-Jakob Disease (CJD) This disease is the human form of BSE, which targets the central nervous system and starts to disintegrate the human brain (About Classical CJD). This disease is one of few that has actually been reported in the United States. It has also been reported in Australia and New Zealand, which is hard to believe since scrapie or BSE has not affected either country (Classical CJD in the U. S. A. ).

Variant Creutzfeldt-Jakob Disease (vCJD) The Spongiform Encephalopathy Advisory Committee (SEAC) announced the disease, which has affected ten patients in 1994 or 1995. There are several differences from classical CJD and variant CJD. The patients were much younger compared to the individuals infected with the classical form of CJD. The average for CJD is sixty-three while vCJD is twenty-eight. The course duration of vCJD is around thirteen months, but CJD is only six months.

Electroencephalographic (EEG), which is electrical activity in the brain, was reported with vCJD, but not with CJD. Through studies SEAC have found that vCJD has the same signature as BSE, which suspects that BSE and vCJD are in some way associated. The study was with four panels of mice, one with crossbred mice and the other three with inbred mice. The mice that were infected with BSE showed the same signs of illness as the vCJD infected mice. Mice with just classical CJD did not show these signs (BSE and CJD – Human).

History From 1985 – Current Time For the last several years the Mad Cow Disease has infected thousands uponpawn millions of European livestock. The first sign of the disease began in the UK in 1985 when 133 cows died after suffering brain damage, weight loss, and addition abnormalities. Following after the first known case was the final recognition of the disease in 1986. In 1990 the United Kingdom formulated the National CJD Surveillance Unit to investigate cases, and try to find a correlation between the disease (Associated Press 2).

When the United Kingdom began the surveillance unit, fear arose an overwhelming concern throughout Europe. BSE reached its worst form in 1992 – 1993, with 100,000 confirmed cows infected with Mad Cow Disease. The first known human victim died two years later in 1995. This was the first case documented of vCJD. Followed by three more people dying in the UK in that same year. After the first known human deaths from the disease, many people started asking questions that scientist and doctors did not have the answer for.

Still the Mad Cow Disease was supposedly not related to vCJD at that time. After March of 1996 United Kingdom Health Secretary, Stephen Dorrel announced there was a correlation between the Mad Cow and vCJD, followed by a ban of export on British beef, and a slaughter of all cattle over the age of 30 months. This was a result of the expensive test that had to be conducted on the cattle, and they could not afford to do it on every single one. By the year 2000, France banned beef from restaurants and school canteens, then Italy bans adult cows and beef from France.

Then the first case of Mad Cow Disease is detected in Spain and Germany. Both countries ordered for testing on all cattle to help relieve public fears. By the end of the year 2000, the entire country of France had also come down with the disease. In fact, it was worst than expected, with one in every five hundreth cow infected. Then, in the beginning 2001, Belgium and Italy had been hit with this horrible disease. The only good notion that has come out of this event is that the United States has barely noticed an outbreak, just from a few possible areas like Texas.

None of the areas in the United States have been confirmed with the possible outbreak. This could be due to the fact that the United States does not import any beef from Europe. Furthermore, the United States is not supposed to feed their livestock ground up bone from animals like the European states do. These are some of the possible reason why the outbreak hasn’t reached the United States. Mad Cow Disease fits the profile that might cause hysteria, because it has traumatic results and affects the brain consistency and intelligence content of it’s victim.

The media has the burden of a field-day frenzy, with the people infected and dying from this disease…. imagine if the outbreak did spread into every fourth person. Of course, the media would show the scenes of what people look like after being infected, and cause society emotions to uprise due to the possible loss of control, motors skills, hand, arm, and leg movements. This media exploitation would be an end result that would make people scared and worried about eating meat. At this point, you could observe a dramatic decline in consumption of meat, especially in the infected areas noted.

Even in America you will see a decline of meat consumption, even if the country is still clear of the disease. Further proof could be the observance of the German Replic, which after the awareness of the disease, their mead consumption decreased by fifty percent. It has been said that Mad Cow Disease could be the start of an epidemic that could wipe out the population of life on this planet. Could you imagine the environmental effects if Mad Cow Disease spread to the wilderness or rain forests, the same places scientist locate herbaceous cures, in which would be contaminated.

What type of action would have to be taken to stop the spread of the disease in an environment you have very little control over. Imagine what typse of costs would be incurred if United States mandated Mad Cow testing for every living animal in America or vice versa for other countries. Agricultural Scenario and Mad Cow Disease Farmers all over France are suffering from the disease. Usually by lunchtime the slaughterhouse crew would be getting ready for the afternoon shift, but lately there has been no work. Orders for beef have declined by thirty percent and on some days even fifty percent.

Emotions and thoughts started to stir up when a farmer was arrested for trying to sell a diseased cow to a community slaughterhouse. The police managed to stop the slaughter of that cow, but still more than a thousand pounds of beef from the same herd have already been put out in the market (Daley). French farmers aren’t the only ones breaking the law. Five Brittians were found guilty selling tons of chicken that were deemed unhealthy for human consumption. This obviously was one of the contributions to the huge number of cases in Britain, since this was a multi-million dollar operation (Five Britons).

In the United States, the billion dollar per year cattle industry is itself, infected with agribusiness greed, preventing any possibility of truthful or timely disclosure of Mad Cow Disease. Although American beef consumption has been nearly cut in half since 1980, the beef industry has never been as lucrative. With eight five percent of cattle farmers reporting profitability up form only 15% in 1996. Ironically Europe’s crisis has been a huge boom to the BSE free meat exports, which has shot up thirty four percent last year. Russian’s imports from American have more than twenty fold since last year.

Mad cow has clearly been great for business, although McDonald’s has suffered large European losses in the aftermath of the wide spread disease. American Farmers and agriculture businesses are at a boom, due to the fact that all of the countries infected want the uninfected beef for their own consumption on a higher safety level. With this unexpected cash flow, many doubt that the USDA will reveal that any BSE infected cows have been discovered in the United States. Alas, this would lead to public panic and an agricultural market collapse.

It existed in Britain in undetectable levels and when the industry or environment started changing rapidly the result was the increase in the incidence of BSE. BSE spread unhampered by the industry and environment after the initial appearance of BSE as an impulsive event in cattle. A very practical reason for the spread of Mad Cow Disease is in Britain during the 1980’s started by cannibalistic practices of feeding cows ground up protein of dead cows, sheep, and other types of animals. The actual disease BSE appears very rare in natural cases.

The disease was jumping in reported cases after this type of recycling of animals was occuring. The worst action the British government could have done was lie about that the fact that BSE would never endanger any human life. Brittains went crazy after death notices reported from a related disease vCJD. After the slaughter of millions of cows the number of BSE dropped from tens of thousands of cases two about one thousand. Apparently a lesson was not learned or even grasped from past occurrences because England did not stop the pre-mentioned cannibalistic activities during the 1990’s.

Now at this time, numbers of deaths are rising in a great deal of speed. Most of the European nations have only found a few hundred actual confirmed cases; the nation of Great Britain has a confirmed number of at least 200,000 cases of BSE. (Pattison 2) The US has failed to close gaping loopholes in the firewall against Mad Cow Disease, and the feeding of potentially infectious cow parts back to other cattle continues to be largely unmonitored. On Jan 10th, 2001, the FDA charged livestock-feed producers and rendering plants, which powder slaughterhouse waste for use as a cheep feed supplement.

With widespread noncompliance with feed labeling and mixing regulations over 180 large cattle rendering companies were found to have the wrong labels on the wrong bags. Harvesting a common ground for bacteria and the Cvjd disease. Furthermore, Bovine by products are still being Imported under loopholes in the Federal regulation. Permitted beef products include milk, blood, fat, gelatin, tallow, bone mineral extracts, collagen, and semen. Why should there be a ban on byproducts like milk? Although it is rarely mentioned, infectious prions can be contained in milk, although it remains a rare chance.

For instance in a 1992 Japanese study published in the New England Journal of Medicine showed the human breast milk is capable of transmitting prions, which could be a mad cow prion, and it has also been demonstrated in sheep. The negligence that is installed by our government is bound to come around and hit the US when unexpected. Especially since the US is one of the highest consumption of beef in the world. As you are probably aware of at this time, Mad Cow Disease emerged in 1986. In 1989 the U. S. Department of Agriculture banned the import of cattle and other beef products from infected countries.

In 1990’s the United States had prohibited the entry of live sheep and cattle, and rendered animals protein, from Britain. This occured to prevent the actual spread from animal to animal. At this time in history, it was thought that this regulation could stop the spread of the newly discovered disease. In the late 1990’s, scientists discovered the fact that the disease could be spread through ruminants, grass eating animals, and offal. In the year of 1997, the FDA banned the feeding of ruminant alpha to any members of the ruminant family.

Most recently on May 26, 2001 President Bush signed the Animal Disease Risk Assessment, Prevention and Control Act of 2001. This act helps put together a team of agriculture, health and safety officials to ensure that the government is doing everything in their power to prevent the entrance of Mad Cow Disease and other foreign diseases to enter in the United States. How Are Countries Dealing with Mad Cow Disease? Mad Cow disease has effected everyone worldwide in some small or big way. Europe most of all has been drastically affected by this traumatizing disease, which has changed the way many Europeans eat or practice business.

Countries like Germany, Italy, France, and Britain have all been exposed to this disease, which all of them are trying to contain and control it before things get out of hand. In Germany, the first case of Bovine Spongiform Encephalopathy (BSE) or Mad Cow Disease was reported in November of 2000. Before that, German Agricultural Minister Karl-Heinz Funke was criticized for not taking the matter more seriously and was even accused of down playing the fact that BSE was even a threat to Germany. Since then, two more cases have been reported in Germany.

Germany has also been suspected of a human equivalent disease known as Creutzfeldt-Jakob disease (CJD) (German Greens call…). With all this discussion about Mad Cow Disease, butchers in Germany have reported sales in beef has dropped 90%, although poultry and horse meat prices have now sky rocketed (Germany cabinet to study…). Italy has only reported two occurrences of the diseases, and both were imported from other countries. Italy for the most part isn’t too concerned with the matter as long as all the meat eaten by the citizens is from the country itself and not imported.

Tumor specialist, Veronesi, states “the only action that Italy needs to make is to ban animal meal in feed for other animals. The country doesn’t want to run the risk of having a similar disease in other animals. ” He also mentions that “the country is now testing every bovine animal at the age of two or older before the animal is slaughtered and put for consumer use (Italy’s health minister…). ” France has reported a total of one hundred seventy-six cases. Ninety-six and 96 of those were just in the recent year (BSE and nvCJD cases…)!

One of the measures France is partaking in is the banning of T-bone steaks. Prime Minister Lionel Jospin is also trying to stop the use of animal-based feeds, but for the process to fully be put in action across the country it will take 3-4 months. This is to purge the possibility of cross-contamination of feeds for cows from feeds for chickens, pork and fish (Georges-Picot). Britain has reported around 177,416 cases of the disease. Just by looking at the size of that number, you can suspect that things are obviously much worse in Britain than most countries.

Even though most of those cases were the late 1980’s and early 1990’s, there were still around 3,000 cases reported in that last two years (BSE and nvCJD cases…). With the panic in Britain, the government has also decided that it would be wise to have an embargo on beef coming in from France. This was due to the fact that the French said that their controls over BSE were insufficient (Woodcock). One of the reasons why BSE has been found in the UK and not in the US is, because of the low ratio of sheep to cattle in the US.

In Great Britain there is around forty million sheep and only twelve million cattle. Now in the US there is around ten million sheep opposed to a hundred million cattle. So that makes a ratio of three to one in the UK and a ratio of one to ten in the US, which as a result reduces the chances of Scrapie being transmitted from sheep to cattle (Transmission of BSE). The only Transmissible Spongiform Encephalopathies (TSE’s) that have been reported in the US are Scrapie, Transmissible Mink Encepthalopathy, and Chronic Wasting Disease of deer and elk.

As for the time being the US is free of Mad Cow and vCJD disease. Many believe it is due to the fact that the United States has almost it own supply of meat, and the fact that we only import the types of meat that are not popular to the United States such as baby back ribs from Denmark. One more issue that is under direct controversy is the fact that we had, until recently, banned all European meats to enter into our country. In May 2001, the Bush administration eased up on the ban letting some uninfected countries trade beef and other by products.

Even though those countries have not yet been infected by the times, some of the meat was tested, there would all ready be shipment to the United States and into your freezer, waiting for you to cook your evening family dinner. Another possible solution would be to not only inspect the meats that are coming in for the disease, but to start tightening up the restriction and fines for feed mills and rendering plants. Make sure that no animal is fed the ground up bones of another. This would prevent the disease from a self-infestation of our own country.

What is Asthma

Asthma is a disorder that affects 20% of Australians in their childhood. It causes airways to narrow making it difficult to breathe. Symptoms may include loss of breathe in cold weather, wheezing and whistling. It may occur periodically in sudden sharp attacks. When an attack occurs – The muscles around the wind pipe tighten shrinking the airways. The wind pipe lining then swells (picture) and a mucus called phlegm develops causing the cough to intensify and slightly more painful.

What are the Causes and Triggers for asthma ? Attacks of Asthma occur due to a blockage in the bronchial tubes. This blockage results from a spasm that narrows the indpipe causing breathing difficulty for the sufferer. Asthma Triggers are things that make Asthma worse. Usual triggers are – Respiratory infections eg. Colds, flu, sore throats and bronchitis Allergic reactions sometimes cause Asthma eg. Pollen, foods, dust, animal fur or some seed. Air irritants (similar to Allergic reactions) eg. Cigarette smoke, gases or dust. Excessive/strenuous exercise can cause an Asthma attack.

Emotional Stress can also trigger an Asthma attack. Symptoms of Asthma Symptoms include wheezing from the chest or a slight whistling is heard when inhaling. It’s even louder when exhaling. Tightness of the chest, lung and lung area are closely associated with Asthma. Treatment for asthma There is no cure for Asthma but there are steps that doctors take to help relieve the symptoms of Asthma. As a first step doctors try to remove or get the patient to avoid Asthma triggers such as “animal dander” (eg. Fur or hairs).

These are very likely to trigger an Asthma attack. Places where animals dwell are advised to be kept clear of for a sufferer. Since it is impossible to remove or avoid all triggers there are medications that can be taken. Such as – – Anti – Inflammatory Drugs : these reduce swelling f the windpipe and it’s lining. Oral Steroids – prednisone and prednisolone quickly reduce inflammation during an attack. Inhaled medicines – such as cromoyln sodium and inhaled corticosteroids keep inflammation from flaring up.

Bronchodilators : relax the muscles which have tightened around the windpipe. Adrenergic bronchodilators (“Beta 2 agonists”) provide temporary relief but do not treat inflammation. These are available as an Inhaler or a tablet form. Unfortunately the tablets are slower and have a few side affects. Theophylline is available in a liquid, capsule or tablet form. This drug has a long uration of action making it a very good soother for “night time” Asthma.

Ways of preventing asthma There are no ways of preventing Asthma because it is usually genetic, allergically related or following a dose of bronchitis, but there are ways to prevent it from flaring up and turning into an attack. A sufferer can be very careful about his or hers diet because the diet can greatly affect the Asthma. Due to allergic reactions etc. Staying away from pollens and animal fur settles down Asthma. The allergic reactions are the highest causes of Asthma. Make sure you always have medication with you such as Intal and Becotide. These preventative medicines will stop an attack occurring.

Summery For an Asthma sufferer breathing can sometimes be a great difficulty due to the fact that at any time their wind pipe can shrink due to inflammation, making it very hard to breathe. But with the right medication eg. Inhalers and Theophylline their life can be much easier. If they also stay away from triggers such as pollen, fur and cigarette smoke the air ways may not be so vulnerable. Even if you don’t have Asthma you should keep an eye out for the symptoms which are – chest and lung tightness, wheezing and loss of breath especially in cold weather.

Asthma – A Lung Disease

Asthma is a lung disease that affects approximately ten million people in the United States. (Cramer 2) In people with asthma, the airways of the lungs are hypersensitive to irritants such as cigarette smoke or allergens. When these irritants are inhaled, the airways react by constricting, or narrowing. Some people with asthma have only mild, intermittent symptoms that can be controlled without drugs. In others, the symptoms are chronic, severe, and sometime life threatening. Although researchers have learned more about the underlying causes of asthma in recent years, a definitive treatment is still unavailable.

In the last decade, asthma deaths worldwide have rose 42%. (Cramer 2) The reasons for this increase are not clear; however, many experts believe that the lack of standard treatments and the inconsistent monitoring of asthma patients have contributed to the increased mortality rate. With this disease comes many questions such as what is asthma, what are the symptoms and causes, how is it diagnosis, what are the treatments, how is it prevented and maintained. In answering these typical questions people will be more informed of a disease that is killing people.

Asthma is sometimes referred to as a disease of twitchy lungs, which means that the airways are extremely sensitive to irritants. The airways are the tubes that bring air from the windpipe, known as the trachea, to the lungs. These tubes are called the bronchi. Each bronchus, in turn, branches into smaller tubes called bronchioles. At the end of the bronchioles are small, balloon like structures called alveoli. The alveoli are tiny sacs that allow oxygen to diffuse from body tissues into the lungs to be exhaled.

Shier, Butler, Lewis 786-88) During an asthma attack, the bronchi and bronchioles constrict and obstruct the passage of air into the alveoli. Besides constricting, the airways may secrete copious amounts of mucus in an effort to clear the irritation from the lungs. The airway walls also swell, causing inflammation and further obstruction. As the airways become increasingly obstructed, oxygen cannot reach the small air sacs; blood levels of oxygen drop, and the bodys tissues and organs become oxygen deprived.

At the same time carbon dioxide cannot escape the small air sacs for exhalation; blood levels of carbon dioxide increase, and exert a toxic effect on the tissues and organs of the body. Most of the time asthma is caused by, inhaling an allergen that sets off a chain of reactions. Once asthma is present, symptoms can be set off or made worse if the patient also has rhinitis (inflammation of the lining of the nose) or sinusitis. (Cramer 3) Acid reflux for some reason can also make asthma worse.

A viral infection of the respiratory tract, aspirin, and a drug called beta-blockers (often used to treat high blood pressure) can also inflame an asthmatic reaction. (Cramer 3) In addition to cigarette smoke and various allergens, other triggers can cause asthma attacks. A cold, or other upper respiratory infections may bring on an asthma attack. Strong emotions, such as excitement, tension, or anxiety, may trigger asthma symptoms. Even exercise and extreme weather conditions, such as very cold, very hot, or very humid weather, can cause an asthma attack.

Environmental exposures, such as pollution and ozone levels can also contribute to an asthma attack. (Britannic 1) The characteristic sign of asthma is wheezing, the noisy, whistling breathing that a person makes as he or she tries to push air in and out of narrowed airways. Other symptoms of asthma include a tight chest, shortness of breath, and a cough. When diagnosing a patient for asthma, the examiner should look for maximum chest expansion while taking in air. (Cramer 5) Hunched shoulders and contracting neck muscles are other signs of narrowed airways.

Nasal polyps or increased amounts of nasal secretions often noted in asthmatic patients. Skin changes, like atopic dermatitis or eczema, are a tip off that the patient has allergic problems. (Cramer 5) Inquiring about family history of asthma or allergies can be a valuable indicator of asthma. The diagnosis may be strongly suggested when typical symptoms and signs are present. A test called spirometry measures how rapidly air is exhaled and how much is retained in the lungs.

Repeating the test after the patient inhales a drug that widens the air passages (a bronchodilator) will show whether the airway narrowing is reversible, which is a very typical finding in asthma. Often patients use a related instrument, called a peak flow meter, to keep track of asthma severity at home. Often, it is difficult to determine what is triggering asthma attacks. Allergy skin test may be used, although an allergic skin response does not always mean that the allergen being tested is causing the asthma.

Also, the bodys immune system produces antibody to fight off that allergen, and the amount of antibody can be measured by a blood test. This will show how sensitive the patient is to a particular allergen. If the diagnosis is still in doubt, the patient can inhale a suspect allergen while using a spirometer to detect airway narrowing. Spirometry can also be repeated after a bout of exercise if exercise induced asthma is a possibility. A chest x-ray will help rule out other disorders. Currently, several drugs are used to treat asthma. Not all asthmatic drugs should be used by every asthma patient.

Some patients with mild asthma only need to use medication intermittently to control wheezing. Patients with more serious asthma need to take medication at regular intervals to avoid life-threatening attacks. It is important for asthma patients to see their doctors if the frequency or severity of their symptoms change. One form of medication is termed bronchodilators. Bronchodilators dilate constricted lung airways by relaxing the muscles, which line the bronchial tubes. Oral bronchodilators include theophylline; theophyllines counterpart, aminophylline, is used through a needle in the vein for severe episodes of asthma.

During severe, acute attacks of asthma, injections of epinephrine are given just under the patients skin. Epinephrine has a quick, but short lasting effect of bronchodilation. Most asthma patients are given bronchodilators such as abuterol that are used in a mist form that is inhaled from either a special inhaler device or an aerosol machine. Some patients are instructed to use their bronchodilator at regular intervals, while others may just be told to use the inhaler if they notice the beginning of an asthma attack. The inhaled medications are quick acting because they are directly applied to the constricted airways.

Another type of treatment is called Anti-Inflammatory drugs. Anti- Inflammatory drugs reduce the swelling and inflammation of the airways. These drugs can be inhaled or taken in pill form. Two types of anti-inflammatory drugs that are prescribed for asthma patients: Chromolyn sodium and Corticosteroids. Chromolyn sodium is also prescribed for people with allergies, and it has few side effects. Oral corticosteriods are very effective in treating asthma, but should be reserved for severe cases, due to their serious side effects.

Cramer 5) Short-term side effects include increased appetite, weight gain, hypertension, and fluid retention. Over the long-term corticosteriods may cause osteoporosis, cataracts, and impaired immune response. These side effects usually preclude the use of corticosteriods for long periods of time. In fact, short courses of steroids are preferred. These steroid bursts are given over about a weeks time and then discontinued, as a treatment for a sudden sever asthma attack, perhaps brought on by exposure to an allergen or viral infection. Inhaled corticosteroids have few side effects.

These medications are also prescribed for allergy patients. Unlike their oral counterparts, these drugs can be taken for much longer periods of time. They are especially useful in controlling moderate asthma. A new asthma medication called leukotriene receptor antagonists (LTRAs) are being used to interfere with the actions of a class of chemicals called leukotrienes. Leukotrienes help produce the symptoms of asthma. Interference with their actions decreases asthma symptomology. LTRAs are believed to greatly reduce asthma severity, when taken daily. (Britannica 2) To avoid attacks patients can take certain preventative steps.

Asthma can be avoided by doing the following: 1. Avoid being outside during the early morning and late afternoon hours, when pollen levels are highest. 2. Since dust has been associated with asthma attacks, thoroughly and frequently clean the indoor environment. Dust and vacuum everyday. Wash bed linens in hot, soapy water every few days or so. Replace air filters in air conditioners and furnaces regularly. 3. During hot weather, use air conditioning. (Harrington 55) Eliminating the irritant is the key. If asthma is brought on by cigarette smoke, the patient must avoid this irritant.

If asthma is brought on by exercise, the person should try to find a level of exertion that is comfortable. Using an inhaled bronchodilator before exercising may also control asthma symptoms. For all persons with asthma, communication with and regular visits to their physicians are essential components of treatment. Without periodic checkups, the physician cannot monitor progress or potential worsening of symptoms. So, the most important aspect of prevention and treatment for asthma patients is the regular physician visit. Asthma is something that many people live with from day to day.

For example, my brother was diagnosed with asthma when my family moved from Alaska. He was a one-year-old baby that was in and out of hospitals all through out his childhood years. At first the doctors wanted to place him in a bubble because it was like he was allergic to everything. Come to find out he had not built up an immune system to many different kinds of allergens because in Alaska the vegetation of the land is very different. Now this was a very traumatic time for my family because my brother soon became diagnosed with chronic asthma, which is a form of old peoples asthma.

The doctors stated that he might not live because he was always so ill. Well it has been sixteen years and instead of the asthma progressing it seems to have regressed extremely. The only bad thing about all of this is that the medicines he was on have very serious side effects and we are not sure how the side effects will affect him. So, even the worse case scenarios can turn into good. The more people know about the disease the better they can handle it. This disease has come a long way since it first entered my familys life. Doctors now know more about the causes, symptoms, and how to diagnosis the disease than they did in 1985.