Familial hypercholesterolemia

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    Familial Hypercholesterolemia is a genetic disorder, which means that it is a disorder that is carried on from someone's biological paternal and/or maternal link, that causes low-density lipoprotein to increase. Lipoprotein – abbreviated LDL – is known as the bad cholesterol that increases the risk of heart disease and stroke. Taken from its roots, it means that it is a genetically active disorder that leads to the elevated levels of cholesterol in the human body. This disorder affects about 1 in 500 people and cause a sudden and fast increase in total cholesterol levels, as well as many biochemical problems in the body. People who are diagnosed with and have Familial Hypercholesterolemia (FH) carry a risk that is twenty times greater than an average person to have heart disease. However, factors such as eliminating smoking, controlling your weight, and maintaining a healthy lifestyle can lower the risk of heart palpitations and related problems. In addition, FH can be classified into two separate disorders: Monogenic and Polygenic, both vary in terms of causes and biochemical findings but for the…

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    Case Study Praluent

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    For patients with high cholesterol, Praluent, also known by its generic name, alirocumab, is the new FDA approved drug that is effective at improving liver function to lower bad cholesterol (Goldschmidt). Unlike other available medication in the market, Praluent is a completely new class of drug that enhance the lives of many individuals and provides an alternative method for treating cholesterol that will appeal to patients who do not see results from their current medication or experience…

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    FM 4 Familial Hypercholesterolemia also known as FM, is a disease of extremely high cholesterol levels beginning early in gestation. It is passed along from family member to family member through a genetic mutation. Most commonly on chromosome 19. Many other chromosomes have now been identified as causing familial hypercholesterolemia…

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    When a group of patients diagnosed with Familial Adenomatous Polyposis (FAP), an inherited form of precancerous polyps that afflicts the lower bowel were given curcumin and quercetin over a 6 month period. The number of polyps in the colon dropped by a 60%; the number of polyps that ceased to grow also dropped by 51%, on…

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    Cardiovascular disease is the leading cause of death in the world with its prevalence directly tied to amount of cholesterol in the blood. The Framingham Heart Study showed the tie between high cholesterol and heart disease. The study found that low density lipoprotein (LDL) was more predictive of heart disease than total cholesterol. The study also suggested that family history made the cause of hypercholesterolemia and not a high just a high fat diet. The pharmaceutical class, HMG Co Reductase…

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    Due to this, a combined liver and kidney biochemical profile was done in 2012, to assess for kidney and liver function, as familial hypercholesterolemia we have an increase of LDL. Increased LDL primarily comes from a liver dysfunction, but increased LDL will have an inhibiting effect on the kidneys and the sodium/potassium activity. • eGFR- Low-79 mL/min/1.73m2 (80-120) eGFR is defined as the estimated glomerular filtration rate. This is often measured in conjunction with creatine levels.…

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    exchange is unequal in charge. Sodium and potassium are oppositely charged thus creating a difference in electronegativity. Also, more positive charges will leave than enter the cell which creates a more positive charge in the membrane/outside of the cell. Interactive Questions 7.9 How is cholesterol transported into human cells? Cholesterol is transported into human cells through receptor mediated endocytosis. Through this process, cholesterol fits on the receptors on the membrane. The cell…

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    2.2 Risk Factors Genetics has a strong impact on atherosclerosis, however only a fraction of cases are due to Mendelian disorders, such as LDL receptor gene mutations. Familial traits that predispose an individual to atherosclerosis include conditions such as, hypertension and diabetes and inflammatory disorders (Crowther, 2005, Falk, 2006, Kumar, 2010). Age also plays a role, as individuals between 40 to 60 years of age are at elevated risk of manifesting atherosclerosis, whilst ischemic heart…

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    In the early 1900s, inherited diseases were first linked to chromosomes. Discoveries starting in the 1950s have helped scientists to develop genetic tests for genetic conditions such as Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy. Genetic testing was initially used to make or confirm a diagnosis of a genetic condition, and to screen newborns for conditions such as phenylketonuria (PKU), so that early interventions and treatments could be administered. The screening of these…

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    Ap Psychology 5.1

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    Review Questions # 5 2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and…

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