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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, 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 Fabry a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha Galactosidase
α-Galactosidase ( EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction: : Hydrolysis of terminal, non-reducing α-D-galactose residues in α-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids It catalyzes many catabolic processes, including cleavage of glycoproteins, glycolipids, and polysaccharides. The enzyme is encoded by the ''GLA'' gene. Two recombinant forms of human α-galactosidase are called agalsidase α (INN) and agalsidase β (INN). A mold-derived form is the primary ingredient in gas relief supplements. Function This enzyme is a homodimeric glycoprotein that hydrolyses the terminal α-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. Reaction mechanism Disease relevance Fabry disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breedi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls of the heart are rigid (but not thickened). Thus the heart is restricted from stretching and filling with blood properly. It is the least common of the three original subtypes of cardiomyopathy: hypertrophic, dilated, and restrictive. It should not be confused with constrictive pericarditis, a disease which presents similarly but is very different in treatment and prognosis. Signs and symptoms Untreated hearts with RCM often develop the following characteristics: * M or W configuration in an invasive hemodynamic pressure tracing of the RA * Square root sign of part of the invasive hemodynamic pressure tracing Of The LV * Biatrial enlargement * Thickened LV walls (with normal chamber size) * Thickened RV free wall (with normal chamber size) * Elevated right atrial pressure (>12mmHg), * Moderate pulmonary hypertension, * Normal systolic function, * Poor diastolic function, typically Grade III - IV Di ... [...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.Updated by Linda J. Vorvick. 8/14/1Hyperplasia/ref> 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 File:*+ * Photographic documentation on sexual education - Hypertrophy o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Muscle
Cardiac muscle (also called heart muscle, myocardium, cardiomyocytes and cardiac myocytes) is one of three types of vertebrate muscle tissues, with the other two 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 c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Muscle Cell
Cardiac muscle (also called heart muscle, myocardium, cardiomyocytes and cardiac myocytes) is one of three types of vertebrate muscle tissues, with the other two 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 ... [...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; 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 (overflow proteinuria) * Due to low ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Failure
Kidney failure, also known as end-stage kidney disease, 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, high blood potassium, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anemia. 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 disease. Diagnosis of acute fail ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Kidney Disease
Chronic kidney disease (CKD) is a type of kidney disease in which a gradual loss of kidney function occurs over a period of months to years. Initially generally no symptoms are seen, but later symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications can relate to hormonal dysfunction of the kidneys and include (in chronological order) high blood pressure (often related to activation of the renin–angiotensin system system), bone disease, and anemia. Additionally CKD patients have markedly increased cardiovascular complications with increased risks of death and hospitalization. Causes of chronic kidney disease include diabetes, high blood pressure, glomerulonephritis, and polycystic kidney disease. Risk factors include a family history of chronic kidney disease. Diagnosis is by blood tests to measure the estimated glomerular filtration rate (eGFR), and a urine test to measure albumin. Ultrasound or kidney biopsy may ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acroparesthesia
Paresthesia is an abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness) with no apparent physical cause. Paresthesia may be transient or chronic, and may have any of dozens of possible underlying causes. Paresthesias are usually painless and can occur anywhere on the body, but most commonly occur 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". A less well-known and uncommon paresthesia 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 th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morbus Fabry Cornea Verticillata 01
''Teenage Mutant Ninja Turtles'' is an American media franchise created by the comic book artists Kevin Eastman and Peter Laird. It follows Leonardo, Michelangelo, Donatello and Raphael, four anthropomorphic turtle brothers (named after Italian Renaissance artists) trained in ninjutsu who fight evil in New York City. Supporting characters include the turtles' rat sensei Splinter, their human friends April O'Neil and Casey Jones, and enemies such as Baxter Stockman, Krang, and their archenemy, the Shredder. The franchise began as a comic book, '' 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 developed a line of ''Turtles'' action figures. About US$1.1 billion of ''Turtles'' toys were sold between ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
