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Tangier's Disease
Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. Worldwide, approximately 100 cases have even been identified. The disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries. Signs and symptoms Individuals that are homozygotes for Tangier's disease develop various cholesterol ester depositions. These are especially visible in the tonsils, as they may appear yellow/orange. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen. Due to the cholesterol ester depositions the tonsils may be enlarged. Hepatosplenomegaly (enlarged liver and spleen) is common. Neuropathy and cardiovascular disease are the most devastating developments caused by Tangier's disease.Serfaty-Lacrosniere ...
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Hypoalphalipoproteinemia
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner. It can be associated with LDL receptor. Associated regions and genes include: niacin Niacin, also known as nicotinic acid, is an organic compound and a form of vitamin B3, an essential human nutrient. It can be manufactured by plants and animals from the amino acid tryptophan. Niacin is obtained in the diet from a variet ... is sometimes prescribed to raise HDL levels. References External links Autosomal dominant disorders Lipid metabolism disorders {{genetic-disorder-stub ...
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Neuropathy
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or organ function depending on which nerves are affected; in other words, neuropathy affecting motor, sensory, or autonomic nerves result in different symptoms. More than one type of nerve may be affected simultaneously. Peripheral neuropathy may be acute (with sudden onset, rapid progress) or chronic (symptoms begin subtly and progress slowly), and may be reversible or permanent. Common causes include systemic diseases (such as diabetes or leprosy), hyperglycemia-induced glycation, vitamin deficiency, medication (e.g., chemotherapy, or commonly prescribed antibiotics including metronidazole and the fluoroquinolone class of antibiotics (such as ciprofloxacin, levofloxacin, moxifloxacin)), traumatic injury, ischemia, radiation therapy, exces ...
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Lipid Metabolism Disorders
Lipid metabolism is the synthesis and degradation of lipids in cells, involving the breakdown or storage of fats for energy and the synthesis of structural and functional lipids, such as those involved in the construction of cell membranes. In animals, these fats are obtained from food or are synthesized by the liver. Lipogenesis is the process of synthesizing these fats. The majority of lipids found in the human body from ingesting food are triglycerides and cholesterol. Other types of lipids found in the body are fatty acids and membrane lipids. Lipid metabolism is often considered as the digestion and absorption process of dietary fat; however, there are two sources of fats that organisms can use to obtain energy: from consumed dietary fats and from stored fat. Vertebrates (including humans) use both sources of fat to produce energy for organs such as the heart to function. Since lipids are Hydrophobic effect, hydrophobic molecules, they need to be solubilized before their metabol ...
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Foam Cell
Foam cells, also called lipid-laden macrophages, are a type of cell that contain cholesterol. These can form a plaque that can lead to atherosclerosis and trigger heart attacks and stroke. Foam cells are fat-laden cells with a M2 macrophage-like phenotype. They contain low density lipoproteins (LDL) and can only be truly detected by examining a fatty plaque under a microscope after it is removed from the body. They are named because the lipoproteins give the cell a foamy appearance. Despite the connection with cardiovascular diseases they might not be inherently dangerous. Some foam cells are derived from smooth muscle cells and present a limited macrophage-like phenotype. Formation Foam cell formation is triggered by a number of factors including the uncontrolled uptake of modified low density lipoproteins (LDL), the upregulation of cholesterol esterification and the impairment of mechanisms associated with cholesterol release. Foam cells are formed when circulating monocyte ...
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Tangier Island, Virginia
Tangier is a town in Accomack County, Virginia, United States, on Tangier Island in Chesapeake Bay. The population was 727 at the 2010 census. Since 1850, the island's landmass has been reduced by 67%. Under the mid-range sea level rise scenario, much of the remaining landmass is expected to be lost in the next 50 years and the town will likely need to be abandoned. The people who came to permanently settle the island arrived in the 1770s, and were farmers. In the late 19th century, the islanders began to become more dependent on harvesting crabs and oysters from the Chesapeake Bay. As the waterman livelihood became more important and more lucrative, there were often conflicts among the oyster dredgers and oyster tongers in the bay, and between those living in Maryland and those living in Virginia. Many people who live on Tangier speak a distinctive dialect of American English. Scholars have disputed how much of the dialect is derived from British English lexicon and phonet ...
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Hyperlipidemia
Hyperlipidemia is abnormally elevated levels of any or all lipids (fats, cholesterol, or triglycerides) or lipoproteins in the blood. citing: and The term ''hyperlipidemia'' refers to the laboratory finding itself and is also used as an umbrella term covering any of various acquired or genetic disorders that result in that finding. Hyperlipidemia represents a subset of dyslipidemia and a superset of hypercholesterolemia. Hyperlipidemia is usually chronic and requires ongoing medication to control blood lipid levels. Lipids (water-insoluble molecules) are transported in a protein capsule. The size of that capsule, or lipoprotein, determines its density. The lipoprotein density and type of apolipoproteins it contains determines the fate of the particle and its influence on metabolism. Hyperlipidemias are divided into primary and secondary subtypes. Primary hyperlipidemia is usually due to genetic causes (such as a mutation in a receptor protein), while secondary hyperlipidemi ...
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Gemfibrozil
Gemfibrozil, sold under the brand name Lopid among others, is a medication used to treat abnormal blood lipid levels. It is generally less preferred than statins. Use is recommended together with dietary changes and exercise. It is unclear if it changes the risk of heart disease. It is taken by mouth. Common side effects include headache, dizziness, feeling tired, and intestinal upset. Serious side effects may include angioedema, gallstones, liver problems, and muscle breakdown. Use in pregnancy and breastfeeding is of unclear safety. It belongs to the fibrates group of medications and works by decreasing the breakdown of lipids in fat cells. Gemfibrozil was patented in 1968 and came into medical use in 1982. It is available as a generic medication. In 2020, it was the 189th most commonly prescribed medication in the United States, with more than 2million prescriptions. Medical uses *Hyperlipidemia (Type III) *Hypertriglyceridemia (Type IV): Gemfibrozil, though not as e ...
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Niacin (substance)
Niacin, also known as nicotinic acid, is an organic compound and a form of vitamin B3, an essential human nutrient. It can be manufactured by plants and animals from the amino acid tryptophan. Niacin is obtained in the diet from a variety of whole and processed foods, with highest contents in fortified packaged foods, meat, poultry, red fish such as tuna and salmon, lesser amounts in nuts, legumes and seeds. Niacin as a dietary supplement is used to treat pellagra, a disease caused by niacin deficiency. Signs and symptoms of pellagra include skin and mouth lesions, anemia, headaches, and tiredness. Many countries mandate its addition to wheat flour or other food grains, thereby reducing the risk of pellagra. The amide derivative nicotinamide (niacinamide) is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP+). Although niacin and nicotinamide are identical in their vitamin activity, nicotinamide doe ...
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High-density Lipoprotein
High-density lipoprotein (HDL) is one of the five major groups of lipoproteins. Lipoproteins are complex particles composed of multiple proteins which transport all fat molecules (lipids) around the body within the water outside cells. They are typically composed of 80–100 proteins per particle (organized by one, two or three ApoA. HDL particles enlarge while circulating in the blood, aggregating more fat molecules) and transporting up to hundreds of fat molecules per particle. Overview Lipoproteins are divided into five subgroups, by density/size (an inverse relationship), which also correlates with function and incidence of cardiovascular events. Unlike the larger lipoprotein particles, which deliver fat molecules to cells, HDL particles remove fat molecules from cells. The lipids carried include cholesterol, phospholipids, and triglycerides, amounts of each are variable. Increasing concentrations of HDL particles are associated with decreasing accumulation of atherosclerosis ...
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Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK. While the cornea contributes most of the eye's focusing power, its focus is fixed. Accommodation (the refocusing of light to better view near objects) is accomplished by changing the geometry of the lens. Medical terms related to the cornea often start with the prefix "'' kerat-''" from the Greek word κέρας, ''horn''. Structure The cornea has unmyelinated nerve endings sensitive to touch, temperature and chemicals; a touch of the cornea causes an involuntary reflex to close the eyelid. Because transparency is of prime importance, the healthy cornea does not have or need blood vessels with ...
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Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver. It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The individual may experience many symptoms, including weight loss, poor appetite and lethargy (jaundice and bruising may also be present). Causes Among the causes of hepatomegaly are the following: Infective Mechanism The mechanism of hepatomegaly consists of vascular swelling, inflammation (due to the various causes that are infectious in origin) and deposition of (1) non-hepatic cells or (2) increased cell contents (such due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and physical examination, wherein the latter typically incl ...
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