Gaucher's disease

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    Gaucher's Disease

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    Patients of Gaucher’s disease possess Beta-Glucocerebrosidase enzymes that are deficient in their ability to breakdown glycolipid resulting in enlarged and irregularly shaped cells. Enlarged Gaucher’s cells can cause tissue invasion, posing threatening health problems such as hepatomegaly and splenomegaly as well as glycolipid deposits in the kidneys, lungs, bone marrow, and brain. The symptoms of this autosomal recessive disease, as Dr. Roscoe Brady discovered, are due to a mutation in the GBA 1 gene. After developing a diagnostic test that measured glucocerebrosidase activity in white blood cells, he discovered that the severity depends on the amount of functional beta glucocerebrosidase present. In fact, Gaucher’s isn’t just one disease but rather divided into three types based on the amount of functional enzyme present. Type 1 Gaucher’s Disease, containing some functional enzyme, is phenotypically characterized by null or mild effects. Type 2 and 3 Gaucher’s contain very little functional enzyme and result in neurological complications that can result in…

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    Gaucher’s disease if you haven’t heard of it already is a metabolic disorder one of the most common for lysosomal diseases and it is inherited. It can also be carried and not known by the individual, a carrier only has a single gene mutation that is associated with the disorder. In order actually have Gaucher’s diseases an individual must have two mutations in the GBA gene; one from each parent. Gaucher’s is when the metabolism and storage of fats is irregular; this can be quite harmful due to…

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    Gaucher’s disease is a rare genetic disorder in which when a person lacks of enzyme called glucocerebrosidase. The genes that are involved are GBA(glucosidase, beta, acid) genes. The GBA genes are the ones that provide instructions for making enzyme which is called beta-glcocerebrosidase. There are 4 types of Gaucher’s disease. Type 1 Gaucher’s disease is the most common form of this condition. Type 1 Gaucher’s disease doesn’t really affect the brain or the spinal cord (central nervous system)…

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    Union 8 Threats 8 Increased competition 8 POTER’S FIVE FORCES ANALYSIS 9 Bargaining power of buyers 9 Threat of Substitutes 10 Bargaining power of supplier 11 Threat of new entrants 11 PESTEL ANALYSIS 12 Political/ Legal 12 Economic 12 Social 12 Technological 13 Environment 13 Legal 13 RECOMMENDATIONS 13 REFERENCE 14 TABLE OF FIGURES Figure 1 Genzyme 's Stock Price 2009 5 Figure 2 Poter 's Five Forces 8 Figure 3 Pricing and Revenues (in Millions) for Drugs Approved to Treat Gaucher’s Disease 9…

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    As it states in Source A “ Even without a ban, it will be upper-class parents who can afford pricey genetic technologies. “ this evidence shows that if their was no limits to genetic engineering then the rich people would become even more elite because not only would they have money but they also would not be plagued with the common genetic disease that the rest of the population would have to deal with. Also in Source A it states “Sooner or later, as the most glaring genetic liabilities will…

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    There are other key reasons that also lead people to become unaccepting of death, one of which being advancements in modern medicine and science. As mentioned above, common illnesses and diseases such as pneumonia, that once proved to be fatal for many, no longer play a large risk due to modern medicine. People today are not as quick to die from illnesses as they once were, instead there are cures available, or at least treatments that can hold off death for a number of years. This results in…

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    viewed as mechanistic when it is viewed as working like a machine with different components or parts. The mechanistic body has no interaction with the world or environment surrounding it, therefore the mechanistic body is functioning independently. According to Marcum (2004), the human body is viewed as a material, mechanized objet that is reducible to a collection of physical parts. From this perspective, the patient’s body is “a machine composed of individual body parts, which can be fixed or…

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    the environment. Repudiate psychological, environment and social influences. And the three health languages are;  Diagnosis: this investigates any disease or illness through medical procedures by observation of signs and symptoms and this is notice by the client’s history and test. In order for the professional to get the result you will need to through…

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    Neurology Case Study

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    In the late 1900s scientists were able to describe a rare congenital genetic disease called “1p36” for the first time. Later, in 2001, a girl named Sonia was born; two weeks after her birth, she had heart failure and her parents had to take her to the hospital due to low vital signs; that was the first time doctors noticed that there was something wrong with her. A couple of days later, they realized that not only her heart wasn’t functioning properly, but she had low muscle tone, and seizures.…

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    Euthanasia is one of the most common argument in our society. Euthanasia, the act to end one’s life painlessly who is suffering from incurable or painful disease. However, Euthanasia is illegal in many countries because many people refer it as assisted suicide. Euthanasia can be referred as painless and happy death without going through suffering. According to Wikipedia, Euthanasia was first used in medical context by Francis Bacon. Nevertheless, I supported Euthanasia because every patient has…

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