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Periodic Paralysis
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. The underlying mechanism of these diseases are malfunctions in the ion channels in skeletal muscle cell membranes that allow electrically charged ions to leak in or out of the muscle cell, causing the cell to depolarize and become unable to move. The symptoms of periodic paralysis can also be caused by hyperthyroidism, and are then labeled thyrotoxic periodic paralysis; however, if this is the underlying condition there are likely to be other characteristic manifestations, enabling a correct diagnosis. Types Periodic paralysis is an autosomal dominant myopathy with considerable variation in penetrance, leading to a spectrum of familial phenotypes (only one parent needs to carry the gene mutation to affect the children, but not all family members who share the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disease
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right). The cause of most cases is unknown, but it is believed to involve a combination of Genetics, genetic and environmental factors. Scoliosis most often occurs during growth spurts right before puberty. Risk factors include other affected family members. It can also occur due to anoth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diuretics
A diuretic () is any substance that promotes diuresis, the increased production of urine. This includes forced diuresis. A diuretic tablet is sometimes colloquially called a water tablet. There are several categories of diuretics. All diuretics increase the excretion of water from the body, through the kidneys. There exist several classes of diuretic, and each works in a distinct way. Alternatively, an antidiuretic, such as vasopressin (antidiuretic hormone), is an agent or drug which reduces the excretion of water in urine. Medical uses In medicine, diuretics are used to treat heart failure, liver cirrhosis, hypertension, influenza, water poisoning, and certain kidney diseases. Some diuretics, such as acetazolamide, help to make the urine more alkaline, and are helpful in increasing excretion of substances such as aspirin in cases of overdose or poisoning. Diuretics are sometimes abused by people with an eating disorder, especially people with bulimia nervosa, with the goal of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thiazide
Thiazide () refers to both a class of sulfur-containing organic molecules and a class of diuretics based on the chemical structure of benzothiadiazine. The thiazide drug class was discovered and developed at Merck and Co. in the 1950s. The first approved drug of this class, chlorothiazide, was marketed under the trade name Diuril beginning in 1958. In most countries, thiazides are the least expensive antihypertensive drugs available. Thiazide organic molecules are bi-cyclic structures that contain adjacent sulfur and nitrogen atoms on one ring. Confusion sometimes occurs because thiazide-like diuretics such as indapamide are referred to as thiazides despite not having the thiazide chemical structure. When used this way, "thiazide" refers to a drug which acts at the thiazide receptor. The thiazide receptor is a Sodium-chloride symporter, sodium-chloride transporter that pulls Sodium chloride, NaCl from the Lumen (anatomy), lumen in the distal convoluted tubule. Thiazide diuretics ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Potassium-sparing Diuretic
Potassium-sparing diuretics or antikaliuretics refer to drugs that cause diuresis without causing potassium loss in the urine. They are typically used as an adjunct in management of hypertension, cirrhosis, and congestive heart failure. The steroidal aldosterone antagonists can also be used for treatment of primary hyperaldosteronism. Spironolactone, a steroidal aldosterone antagonist, is also used in management of female hirsutism and acne from PCOS or other causes. Types of potassium-sparing diuretics * Epithelial sodium channel blockers: ** Amiloride better tolerated than triamterene ** Triamterene increased renal side-effects * Aldosterone antagonists, also known as mineralocorticoid receptor antagonists: ** Spironolactone most widespread use, inexpensive ** Eplerenone more selective so reduced side-effects but more expensive and less potent ** Finerenone non-steroidal, more selective and potent than spironolactone and eplerenone ** Canrenone very limited use Me ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Potassium Chloride
Potassium chloride (KCl, or potassium salt) is a metal halide salt composed of potassium and chlorine. It is odorless and has a white or colorless vitreous crystal appearance. The solid dissolves readily in water, and its solutions have a salt-like taste. Potassium chloride can be obtained from ancient dried lake deposits. KCl is used as a salt substitute for table salt (NaCl), a fertilizer, as a medication, in scientific applications, in domestic water softeners (as a substitute for sodium chloride salt), as a feedstock, and in food processing, where it may be known as E number additive E508. It occurs naturally as the mineral sylvite, which is named after salt's historical designations ''sal degistivum Sylvii'' and ''sal febrifugum Sylvii'', and in combination with sodium chloride as sylvinite. Uses Fertilizer The majority of the potassium chloride produced is used for making fertilizer, called potash, since the growth of many plants is limited by potassium availabil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dichlorphenamide
Diclofenamide (or dichlorphenamide) is a sulfonamide and a carbonic anhydrase inhibitor of the ''meta''-disulfamoylbenzene class. Dichlorphenamide as a carbonic anhydrase inhibitor is used for the treatment of acute angle closure glaucoma. While Dichlorphenamide does contain two sulfate groups within the structure, it falls under the class of a first generation carbonic anhydrase Inhibitor. Uses Diclofenamide was approved in the United States in 1958 as ''Daranide'' to treat glaucoma, Subsequently, it was found effective in cases of therapy-resistant epilepsy. In 2015, the medication was approved in the US under the name ''Keveyis'' as an orphan drug for the treatment of primary hypokalemic and hyperkalemic periodic paralysis Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. The underlying mechani .... Cos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acetazolamide
Acetazolamide, sold under the trade name Diamox among others, is a medication used to treat glaucoma, epilepsy, acute mountain sickness, periodic paralysis, idiopathic intracranial hypertension (raised brain pressure of unclear cause), heart failure and to alkalinize urine. It may be used long term for the treatment of open angle glaucoma and short term for acute angle closure glaucoma until surgery can be carried out. It is taken Oral administration, by mouth or intravenous, injection into a vein. Acetazolamide is a first generation carbonic anhydrase inhibitor and it decreases the ocular fluid and osmolality in the eye to decrease intraocular pressure. Common side effects include numbness, tinnitus, ringing in the ears, loss of appetite, vomiting, and sleepiness. It is not recommended in those with significant kidney problems, liver problems, or who are sulfonamide allergy, allergic to sulfonamides. Acetazolamide is in the diuretic and carbonic anhydrase inhibitor families o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carbonic Anhydrase
The carbonic anhydrases (or carbonate dehydratases) () form a family of enzymes that catalyst, catalyze the interconversion between carbon dioxide and water and the Dissociation (chemistry), dissociated ions of carbonic acid (i.e. bicarbonate and hydrogen ions). The active site of most carbonic anhydrases contains a zinc ion. They are therefore classified as metalloprotein, metalloenzymes. The enzyme maintains Acid–base homeostasis, acid-base balance and helps transport carbon dioxide. Carbonic anhydrase helps maintain acid–base homeostasis, regulate pH, and fluid balance. Depending on its location, the role of the enzyme changes slightly. For example, carbonic anhydrase produces acid in the stomach lining. In the kidney, the control of bicarbonate ions influences the water content of the cell. The control of bicarbonate ions also influences the water content in the eyes. Inhibitors of carbonic anhydrase are used to treat glaucoma, the excessive build-up of water in the eyes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperkalemia
Hyperkalemia is an elevated level of potassium (K+) in the blood. Normal potassium levels are between 3.5 and 5.0 mmol/L (3.5 and 5.0 mEq/L) with levels above 5.5mmol/L defined as hyperkalemia. Typically hyperkalemia does not cause symptoms. Occasionally when severe it can cause palpitations, muscle pain, muscle weakness, or numbness. Hyperkalemia can cause an abnormal heart rhythm which can result in cardiac arrest and death. Common causes of hyperkalemia include kidney failure, hypoaldosteronism, and rhabdomyolysis. A number of medications can also cause high blood potassium including mineralocorticoid receptor antagonists (e.g., spironolactone, eplerenone and finerenone) NSAIDs, potassium-sparing diuretics (e.g., amiloride), angiotensin receptor blockers, and angiotensin converting enzyme inhibitors. The severity is divided into mild (5.5 – 5.9mmol/L), moderate (6.0 – 6.5 mmol/L), and severe (> 6.5mmol/L). High levels can be detected on an electrocardi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypokalemia
Hypokalemia is a low level of potassium (K+) in the blood serum. Mild low potassium does not typically cause symptoms. Symptoms may include feeling tired, leg cramps, weakness, and constipation. Low potassium also increases the risk of an abnormal heart rhythm, which is often too slow and can cause cardiac arrest. Causes of hypokalemia include vomiting, diarrhea, medications like furosemide and steroids, dialysis, diabetes insipidus, hyperaldosteronism, hypomagnesemia, and not enough intake in the diet. Normal potassium levels in humans are between 3.5 and 5.0 mmol/L (3.5 and 5.0 mEq/L) with levels below 3.5 mmol/L defined as hypokalemia. It is classified as severe when levels are less than 2.5 mmol/L. Low levels may also be suspected based on an electrocardiogram (ECG). The opposite state is called hyperkalemia that means high level of potassium in the blood serum. The speed at which potassium should be replaced depends on whether or not there are symptom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA 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 breeding ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
