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Fabry Disease
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner. Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females. The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking. The first descriptions of the condition were made simultaneously by dermatologist Johannes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha Galactosidase
Alpha (uppercase , lowercase ) is the first letter of the Greek alphabet. In the system of Greek numerals, it has a value of one. Alpha is derived from the Phoenician letter ''aleph'' , whose name comes from the West Semitic word for ' ox'. Letters that arose from alpha include the Latin letter and the Cyrillic letter . Uses Greek In Ancient Greek, alpha was pronounced and could be either phonemically long ( ː or short ( . Where there is ambiguity, long and short alpha are sometimes written with a macron and breve today: . * = ' "a time" * = ' "tongue" In Modern Greek, vowel length has been lost, and all instances of alpha simply represent the open front unrounded vowel . In the polytonic orthography of Greek, alpha, like other vowel letters, can occur with several diacritic marks: any of three accent symbols (), and either of two breathing marks (), as well as combinations of these. It can also combine with the iota subscript (). Greek grammar In the Attic– ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertrophy
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It is distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number. Although hypertrophy and hyperplasia are two distinct processes, they frequently occur together, such as in the case of the hormonally induced proliferation and enlargement of the cells of the uterus during pregnancy. Eccentric hypertrophy is a type of hypertrophy where the walls and chamber of a hollow organ undergo growth in which the overall size and volume are enlarged. It is applied especially to the left ventricle of heart. Sarcomeres are added in series, as for example in dilated cardiomyopathy (in contrast to hypertrophic cardiomyopathy, a type of concentric hypertrophy, where sarcomeres are added in parallel). Gallery Gould Pyle 234.jpg, Breasts Hypertrophied clitoris.jpg, Clitoris Head of a boy with hypertrophy of the ear Wellcome L0062496.j ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Muscle
Cardiac muscle (also called heart muscle or myocardium) is one of three types of vertebrate muscle tissues, the others being skeletal muscle and smooth muscle. It is an involuntary, striated muscle that constitutes the main tissue of the wall of the heart. The cardiac muscle (myocardium) forms a thick middle layer between the outer layer of the heart wall (the pericardium) and the inner layer (the endocardium), with blood supplied via the coronary circulation. It is composed of individual cardiac muscle cells joined by intercalated discs, and encased by collagen fibers and other substances that form the extracellular matrix. Cardiac muscle contracts in a similar manner to skeletal muscle, although with some important differences. Electrical stimulation in the form of a cardiac action potential triggers the release of calcium from the cell's internal calcium store, the sarcoplasmic reticulum. The rise in calcium causes the cell's myofilaments to slide past each other i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Muscle Cell
Cardiac muscle (also called heart muscle or myocardium) is one of three types of vertebrate muscle tissues, the others being skeletal muscle and smooth muscle. It is an involuntary, striated muscle that constitutes the main tissue of the Heart#Wall, wall of the heart. The cardiac muscle (myocardium) forms a thick middle layer between the outer layer of the heart wall (the pericardium) and the inner layer (the endocardium), with blood supplied via the coronary circulation. It is composed of individual cardiac muscle cells joined by intercalated discs, and encased by collagen fibers and other substances that form the extracellular matrix. Cardiac muscle Muscle contraction, contracts in a similar manner to skeletal muscle, although with some important differences. Electrical stimulation in the form of a cardiac action potential triggers the release of calcium from the cell's internal calcium store, the sarcoplasmic reticulum. The rise in calcium causes the cell's myofilaments to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteinuria
Proteinuria is the presence of excess proteins in the urine. In healthy persons, urine contains very little protein, less than 150 mg/day; an excess is suggestive of illness. Excess protein in the urine often causes the urine to become foamy (although this symptom may also be caused by other conditions). Severe proteinuria can cause nephrotic syndrome in which there is worsening swelling of the body. Signs and symptoms Proteinuria often causes no symptoms and it may only be discovered incidentally. Foamy urine is considered a cardinal sign of proteinuria, but only a third of people with foamy urine have proteinuria as the underlying cause. It may also be caused by bilirubin in the urine ( bilirubinuria), retrograde ejaculation, pneumaturia (air bubbles in the urine) due to a fistula, or drugs such as pyridium. Causes There are three main mechanisms to cause proteinuria: * Due to disease in the glomerulus * Because of increased quantity of proteins in serum (overflo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Failure
Kidney failure, also known as renal failure or end-stage renal disease (ESRD), is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, hyperkalemia, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anaemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystic kidney diseas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Kidney Disease
Chronic kidney disease (CKD) is a type of long-term kidney disease, defined by the sustained presence of abnormal kidney function and/or abnormal kidney structure. To meet criteria for CKD, the abnormalities must be present for at least three months. Early in the course of CKD, patients are usually asymptomatic, but later symptoms may include pedal edema, leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications can relate to hormonal dysfunction of the kidneys and include (in chronological order) Hypertension, high blood pressure (often related to activation of the renin–angiotensin system), renal osteodystrophy, bone disease, and anemia. Additionally CKD patients have markedly increased Cardiovascular disease, cardiovascular complications with increased risks of death and hospitalization. CKD can lead to kidney failure, end-stage kidney failure requiring kidney dialysis or kidney transplantation. Causes of chronic kidney disease include diabetic ne ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acroparesthesia
Paresthesia is a sensation of the skin that may feel like numbness (''hypoesthesia''), tingling, pricking, chilling, or burning. It can be temporary or chronic and has many possible underlying causes. Paresthesia is usually painless and can occur anywhere on the body, but most commonly in the arms and legs. The most familiar kind of paresthesia is the sensation known as ''pins and needles'' after having a limb "fall asleep" (''obdormition''). A less common kind is formication, the sensation of insects crawling on the skin. Causes Transient Paresthesias of the hands, feet, legs, and arms are common transient symptoms. The briefest electric shock type of paresthesia can be caused by tweaking the ulnar nerve near the elbow; this phenomenon is colloquially known as bumping one's "funny bone". Similar brief shocks can be experienced when any other nerve is tweaked (e.g. a pinched neck nerve may cause a brief shock-like paresthesia toward the scalp). In the older age group, spinal c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morbus Fabry Cornea Verticillata 01
''Teenage Mutant Ninja Turtles'' (''TMNT'') is an American media franchise created by comic book artists Kevin Eastman and Peter Laird. It follows Leonardo (Teenage Mutant Ninja Turtles), Leonardo, Donatello (Teenage Mutant Ninja Turtles), Donatello, Raphael (Teenage Mutant Ninja Turtles), Raphael and Michelangelo (Teenage Mutant Ninja Turtles), Michelangelo, four Anthropomorphism, anthropomorphic turtle brothers trained in ''ninjutsu'' who fight evil in New York City. The franchise encompasses printed media, television series, feature films, video games, and merchandise. The franchise began as a comic book, ''Teenage Mutant Ninja Turtles (Mirage Studios), Teenage Mutant Ninja Turtles'', which Eastman and Laird conceived as a parody of elements popular in superhero comics at the time. The first issue was published in 1984 by Eastman and Laird's company Mirage Studios and was a surprise success. In 1987, Eastman and Laird licensed the characters to Playmates Toys, which develo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
William Anderson (collector)
William Anderson FRCS (18 December 1842 – 27 October 1900) was an English surgeon born in Shoreditch, London. He was Professor of Anatomy at the Royal Academy in London, and an important collector and scholar of Japanese art. He was the first chairman of the Japan Society. The genetic disorder Anderson-Fabry disease is named after him. Life Anderson was educated at the City of London School, the Lambeth School of Art (where he was awarded a medal for artistic anatomy) and St Thomas's Hospital (where he also won numerous prizes). He became a Fellow of the Royal College of Surgeons in 1869. At St Thomas's Hospital, he was in 1871 appointed surgical registrar and assistant demonstrator of anatomy. In 1873, he moved to Tokyo, Japan, where he was professor of anatomy and surgery at the Imperial Naval Medical College, and gave lectures both in English and in Japanese, which he learned for that purpose. Here, he assembled his collections and began his study of Japanese art. He wa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
