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 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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    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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    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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    and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time. Case presentation In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose. Glucocerebroside present outside…

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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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    More Americans have died during the Civil War than any other war. 620,000 soldiers died in the line of duty. Two-thirds of these didn’t die from wounds. They died from diseases such as typhoid and dysentery. Civil War medicine was not yet advanced enough to connect a lack of hygiene with an influx of disease. Lack of hygiene in hospitals and camps also contributed to the spread of disease. Placing a latrine downstream away from the clean water supply was sometimes also overlooked. Disease spread…

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    about the same, the utilization rate of technological tools were about three times more in the US (Squires 2012). Another key point is the effects of changing demographic dynamics. Aging is a common concern discussed by many researchers. Since advancement in health care elevates the life expectancy, an increasing portion of aging population will lead to a higher health expenditure. Congressional Budget Office expects the elderly population to be more than half of the health spending by 2037…

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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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    My internship is at UC Davis Medical Center in the Clinical Social Services Department. This semester, the interns are doing rounds in the hospital. What that means is that each week, I am in a different unit of the hospital shadowing a Social Worker and taking cases if I feel comfortable. With that being said, I have not had the opportunity to have a client for a long period of time. Next semester, I will have to chose one or two units that I want to work in and that is where I will have my own…

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