In 1970, the first clinical case of trimethylaminuria (TMAU) was found by J.R Humbert, when diagnosing a 6-year old girl. Trimethylaminuria is a rare, genetic, metabolic disorder in which the bodily fluids being excreted contain Flavin Containing Monooxygenase 3, or FMO3. The FMO3 gene is unable to breakdown Trimethylamine (TMA) into Trimethylamine N-Oxide in a natural bodily process. The FMO3 protein oxidases a chemical reaction within the bodily fluids that allow Trimethylamine to break down into a non-pungent chemical, Trimethylamine N-Oxide (TMAO). Trimethylamine is the chemical compound that is responsible for the strong fishy odor in bodily fluids. When FMO3 proteins are working, the Trimethylamine is converted into the Trimethylamine
N-Oxide chemical, which is the non-pungent chemical version of trimethylamine that is excreted in one’s sweat, urine, saliva, and sexual reproductive fluids. Mutations in the FMO3 gene can cause delusional disorder, as well as trimethylaminuria, more commonly known as fish odor syndrome. Those diagnosed with trimethylaminuria often do not have any underlying symptoms other than experiencing a strong, foul smelling, fishy odor from their body fluids, and often live a generally healthy life. However, many people who are diagnosed with trimethylaminuria do experience other life complications outside of this disorder, and have aspects of their social lives, relationships, and careers hindered Most people experience social and psychological problems revolving around social isolation resulting from this condition. They are commonly viewed as an outcast, and people steer clear from these patients due to their stench being so repelling. Other people find themselves experiencing unrelated symptoms. Anemia is a common unrelated disorder in many patients. The low count of red blood cells will cause the heart to work extra hard by pumping extra blood to compensate for the lack of oxygen within the blood. Those
Mrs. Jones, An elderly woman, presented severely short of breath. She required two rest periods in order to ambulate across the room, but refused the use of a wheel chair. She was alert and oriented, but was unable to speak in full sentences. Her skin was pale and dry. Her vital signs were as follows: Temperature 97.3°F, pulse 83, respirations 27, blood pressure 142/86, O2 saturation was 84% on room air. Auscultation of the lungs revealed crackles in the lower lobes and expiratory wheezing. Use of accessory muscles was present. She was put on 2 liters of oxygen via nasal canal. With the oxygen, her O2 saturation increased to 90%. With exertion her O2 saturation dropped to the 80's. Mrs. Jones began coughing and she produced large amounts of milky sputum.
MS (Staley 2). Believed to retain “much of the characteristic form and expression of its
Glazer, G., K. A. Myers, and E. R. Davies. "Ergot poisoning." Postgraduate medical journal 42.491 (1966): 562-568.Google Scholar. Web. 26 Feb 2014.
Is a multisystem disease related to abnormal insulin production, impaired insulin utilization, or both. Diabetes Mellitus is a serious health problem throughout the world. It is the 5th leading cause of death in the U.S. It is the leading cause of heart disease, stroke, adult blindness, and nontraumatic lower limb amputations.
Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.
Diabetes refers to a set of several different diseases. It is a serious health problem throughout the world and fourth leading cause of death by disease in the country. All types of diabetes result in too much sugar, or glucos in the blood. To understand why this happens it would helpful if we understand how the body usually works. When we eat, our body breaks down the food into simpler forms such as glucose. The glucose goes into the bloodstream, where it then travels to all the cells in your body. The cells use the glucose for energy. Insulin, a hormone made by the pancreas, helps move the glucose from bloodstream to the cells. The pathophysiology of diabetes mellitus further explains the concept on how this disease works. Pancreas plays an important role of the metabolism of glucose by means of secreting the hormones insulin and glucagon. These hormones where then secreted by Islets of Langerhans directly to the blood. Inadequate secretion of insulin results on impaired metabolism of glucose, carbohydrates, proteins and fats which then result to hyperglycemia and glycosuria. Hyperglycemia is the most frequently observed sign of diabetes and is considered the etiologic source of diabetic complications both in the body and in the eye. On the other hand, glucagon is the hormone that opposes the act of insulin. It is secreted when blood glucose levels fall.
Hyponatremia is described as a serum sodium level that is anything less than 135mEq/L and is the most common occurring electrolyte disorder today (Chamberlain, 2012). In most cases, hyponatremia occurs due to an imbalance of water rather than sodium (Hinkle & Cheever, 2014). Symptoms and their severity are related to how quickly the condition develops and the degree of cerebral edema that results from the low serum level of sodium. Symptoms of hyponatremia include poor skin turgor, dry mucosa, headache, decreased saliva production, orthostatic drop in blood pressure, nausea, vomiting, and abdominal cramping. Neurologic changes can also manifest themselves in altered mental status, status epilepticus, and coma; which may be to related to cellular swelling and cerebral edema (Hinkle & Cheever, 2014). The severity of these symptoms is related to how quickly the condition develops and the degree of cerebral edema that occurs (Chamberlain, 2012).
Diabetes Diabetes is a killer; in fact, it is among the top ten killers of adults in the United States. "It can lead to, or contribute to, a number of other serious diseases" (Sizer and Whitney 112). Diabetes means "syphon" or "to run through" (Sizer and Whitney 112), therefore denoting the increase in urinary volume excreted by people suffering from this disease. Mellitus means "sweet".
Diabetes is a metabolic disease defined by high blood glucose concentration, also known as hyperglycemia (Mertig, 2012). Hyperglycemia is the result of having a problem with insulin release and/or a problem with insulin action. In other words, a person living with diabetes produces little to no insulin (type 1 diabetes) or does not have the ability to utilize efficiently the insulin produced (type 2 diabetes) (Mertig, 2012). Diabetes is a growing epidemic in the United States. In an effort to better manage and reduce the incidence of diabetes, researchers dedicate an enormous amount of time each year trying to gain a stronger understanding of the disease (Philis-Tsimikas and Decker, 2011). After all, the long term complications of uncontrolled diabetes (i.e. blindness, renal failure, heart disease, amputations, etc) can be devastating and needs to be prevented and/or controlled (Mertig, 2012). Individuals living with diabetes need to incorporate nutritional management, physical activity, compliance with medications, proper monitoring of blood sugars, self education and most importantly actively participate in their own diabetes care. According to Inzucchi et al, a patient centered approach is best and means, “Providing care that is respectful of and responsive to individual patient preferences, needs, and values and ensuring that patient values guide all clinical decisions.” An approach proven to be effective in managing diabetes is the diabetes self-management education (DSME) approach. DSME is a “patient centered” approach that actively involves the client in all aspects of their diabetes care and provides the necessary tools to encourage self-directed growth. A huge part of the DSME approach is the client’s diet,...
Diabetes Mellitus is a chronic condition which afflicts millions of people around the world. It is related to the insulin hormone, which is secreted by cells in the pancreas, regulates the level of glucose in the bloodstream and supports the body with breaking down the glucose to be used as energy. In someone who has diabetes, the body doesn’t produce enough insulin or cells don’t respond to the insulin that is produced. There are three main types of diabetes, type 1, type 2, and gestational. I will be discussing type 1 and type 2.
Chronic kidney disease (CKD) is increasingly becoming a major community and public health issue. This paper looks into CKD as both a community and public issue and proposes how concerned stakeholders and partners can be mobilized to work together toward fighting the disease.
3. McKusick, V. (1996, 06). PAH DEFICIENCY OLIGOPHRENIA PHENYLPYRUVICA FOLLING DISEASE. PHENYLKETONURIA; PKU. Retrieved 04, 2014, from http://omim.org/entry/261600
Genetics play an important part in the development of type 1 and type 2 diabetes. The most common of the two types of diabetes is type 2. Type 2 diabetes is being observed in the younger generation. It has becoming increasingly common in younger children, but the genes that are responsible for causing it are scarcely defined.("Genetic Factors in Type 2 Diabetes") What we do have well knowledge of is that the disease is a result of one gene mutating. In type 2 diabetes many genes are said to be involved in the developing of the disease, we just are not sure which gene it is that is being mutated.(1,4) However, the risk of having the disease is affected by your siblings or parents having it. Immediate relatives to individuals with type 2 diabetes are at higher risk of getting the condition rather than a person with no relative with diabetes. If the mother of the father has diabetes then the grandchild has a fifteen percent risk of having type 2 diabetes, but if both the father and the mother of the offspring have diabetes then the offspring's risk would increase by seventy-five percent chance of being affected with the condition. On the other hand, if the offspring were to have a sibling that was a non-identical twin with diabetes it would have a ten percent chance of being affected, but if it had an identical twin the risk would increase by ninety percent. Type 2 diabetes is known to run in families, but as to how it is inherited is not really specified. Scientists think that some environmental factors act as accelerators to diabetes, increasing the development. Some genes, known as susceptibility genes increases the risk of developing diabetes to individuals that carry the genes. ("Diabetes and Genetics") A way to find this gen...
Chronic kidney disease is gradual loss of kidney function. Kidney disease is the 9th leading cause of death in the United States. An estimated 31 million people in the United States which is approximately 10% of the adult population have chronic kidney disease. Dietary fiber is the parts of plant foods your body can't digest or absorb. Dietary fiber has been shown to improve symptoms and laboratory values in people with chronic kidney disease.