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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 chromosomal 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 know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micrognathia
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding. It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations. Causes While not always pathological, it can present as a birth defect in multiple syndromes including: * Catel–Manzke syndrome * Bloom syndrome * Coffin–Lowry syndrome * Congenital rubella syndrome * Cri du chat syndrome * DiGeorge syndrome * Ehlers–Danlos syndrome * Fetal alcohol syndrome * Hallermann–Streiff syndrome * Hemifacial microsomia (as part of Goldenhar syndrome) * Incontinentia pigmenti * Juvenile idiopathic arthritis * Marfan syndrome * Möbius syndrome * Noonan syndrome * Pierre Robin syndrome * Prader–Willi syndrome * Progeria * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Implantable Cardioverter-defibrillator
An implantable cardioverter-defibrillator (ICD) or automated implantable cardioverter defibrillator (AICD) is a device implantable inside the body, able to perform defibrillation, and depending on the type, cardioversion and pacing of the heart. The ICD is the first-line treatment and prophylactic therapy for patients at risk for sudden cardiac death due to ventricular fibrillation and ventricular tachycardia. "AICD" was trademarked by the Boston Scientific corporation, so the more generic "ICD" is preferred terminology. Current device batteries last about six to ten years; with advances in technology (batteries with more capacity or potentially rechargeable batteries) it may be possible to increase this well past ten years. The lead (the electrical cable connecting the device to the heart) has a much longer average longevity but can incur various types of malfunction, specifically insulation failure or fracture of the conductor, and require replacement. The process of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Artificial Pacemaker
An artificial cardiac pacemaker (or artificial pacemaker, so as not to be confused with the natural cardiac pacemaker) or pacemaker is a medical device that generates electrical impulses delivered by electrodes to the chambers of the heart either the upper atria, or lower ventricles to cause the targeted chambers to contract and pump blood. By doing so, the pacemaker regulates the function of the electrical conduction system of the heart. The primary purpose of a pacemaker is to maintain an adequate heart rate, either because the heart's natural pacemaker is not fast enough, or because there is a block in the heart's electrical conduction system. Modern pacemakers are externally programmable and allow a cardiologist, particularly a cardiac electrophysiologist, to select the optimal pacing modes for individual patients. Most pacemakers are on demand, in which the stimulation of the heart is based on the dynamic demand of the circulatory system. Others send out a fixed rate o ... [...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 transporter that pulls NaCl from the lumen in the distal convoluted tubule. Thiazide diuretics inhibit this receptor, causing the body to release ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Potassium-sparing Diuretic
Potassium-sparing diuretics refers 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 Mechanism ... [...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 fertilizer, in medicine, in scientific applications, domestic water softeners (as a substitute for sodium chloride salt), and in food processing, where it may be known as E number additive E508. It occurs naturally as the mineral sylvite, 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 availability. Potassium chloride sold as fertilizer is known as muriate of potash (MOP). The vast majority of potash fertilizer worldwide is sold as MOP. Medical use Potassium is vital ... [...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 mechanis .... C ... [...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, altitude sickness, periodic paralysis, idiopathic intracranial hypertension (raised brain pressure of unclear cause), urine alkalinization, and heart failure. 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 by mouth or 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, 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 allergic to sulfonamides. Acetazolamide is in the diuretic and carbonic anhydrase inhibitor families of medication. It works by decreasing the formation of hydrogen io ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carbonic Anhydrase
The carbonic anhydrases (or carbonate dehydratases) () form a family of enzymes that catalyze the interconversion between carbon dioxide and water and the 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 metalloenzymes. The enzyme maintains 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. Blocking this enzyme shifts the fluid balance in the eyes to reduce f ... [...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 5.0mmol/L (3.5 and 5.0mEq/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 spironolactone, NSAIDs, and angiotensin converting enzyme inhibitors. The severity is divided into mild (5.5–5.9mmol/L), moderate (6.0–6.4mmol/L), and severe (>6.5mmol/L). High levels can be detected on an electrocardiogram (ECG). Pseudohyperkalemia, due to breakdown of cells during or after taking the blood sample, should be ruled out. Initial treatment in those with ECG changes is sa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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