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Reye's Syndrome
Reye syndrome is a rapidly worsening brain disease. Symptoms of Reye syndrome may include vomiting, personality changes, confusion, seizures, and loss of consciousness. While liver toxicity typically occurs in the syndrome, jaundice usually does not. Death occurs in 20–40% of those affected with Reye syndrome, and about a third of those who survive are left with a significant degree of brain damage. The cause of Reye syndrome is unknown. It usually begins shortly after recovery from a viral infection, such as influenza or chickenpox. About 90% of cases in children are associated with aspirin (salicylate) use. Inborn errors of metabolism are also a risk factor. The syndrome is associated with changes on blood tests such as a high blood ammonia level, low blood sugar level, and prolonged prothrombin time. Often, the liver is enlarged in those who have the syndrome. Prevention is typically by avoiding the use of aspirin in children. When aspirin was withdrawn for use in chi ...
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Microscope
A microscope () is a laboratory equipment, laboratory instrument used to examine objects that are too small to be seen by the naked eye. Microscopy is the science of investigating small objects and structures using a microscope. Microscopic means being invisible to the eye unless aided by a microscope. There are many types of microscopes, and they may be grouped in different ways. One way is to describe the method an instrument uses to interact with a sample and produce images, either by sending a beam of light or electrons through a sample in its optical path, by detecting fluorescence, photon emissions from a sample, or by scanning across and a short distance from the surface of a sample using a probe. The most common microscope (and the first to be invented) is the optical microscope, which uses lenses to refract visible light that passed through a microtome, thinly sectioned sample to produce an observable image. Other major types of microscopes are the fluorescence micro ...
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Influenza
Influenza, commonly known as the flu, is an infectious disease caused by influenza viruses. Symptoms range from mild to severe and often include fever, runny nose, sore throat, muscle pain, headache, coughing, and fatigue. These symptoms begin one to four (typically two) days after exposure to the virus and last for about two to eight days. Diarrhea and vomiting can occur, particularly in children. Influenza may progress to pneumonia from the virus or a subsequent bacterial infection. Other complications include acute respiratory distress syndrome, meningitis, encephalitis, and worsening of pre-existing health problems such as asthma and cardiovascular disease. There are four types of influenza virus: types A, B, C, and D. Aquatic birds are the primary source of influenza A virus (IAV), which is also widespread in various mammals, including humans and pigs. Influenza B virus (IBV) and influenza C virus (ICV) primarily infect humans, and influenza D virus (IDV) i ...
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Kawasaki Disease
Kawasaki disease (also known as mucocutaneous lymph node syndrome) is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. It is a form of vasculitis, in which medium-sized blood vessels become inflamed throughout the body. The fever typically lasts for more than five days and is not affected by usual medications. Other common symptoms include large lymph nodes in the neck, a rash in the genital area, lips, palms, or soles of the feet, and red eyes. Within three weeks of the onset, the skin from the hands and feet may peel, after which recovery typically occurs. The disease is the leading cause of acquired heart disease in children in developed countries, which include the formation of coronary artery aneurysms and myocarditis. While the specific cause is unknown, it is thought to result from an excessive immune response to particular infections in children who are genetically predisposed to those infections. It is not an in ...
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Douglas Reye
Ralph Douglas Kenneth Reye ( "rye"; 5 April 1912 – 16 July 1977) was an Australian pathologist. In 1958, he discovered a muscular disease that was later named nemaline myopathy. A brain disease he and his colleagues described in 1963 is eponymously known as Reye's syndrome. Life and career Reye attended Townsville Grammar School and the University of Sydney, where he completed undergraduate studies in medicine and was awarded a MBBS in 1937. He was later awarded an MD from the University of Sydney in 1945. Reye joined the staff of the Royal Alexandra Hospital for Children (RAHC) in 1939 as a pathologist, and remained there for all his working life. In 1965, Reye was elected as a Fellow of the Royal Australasian College of Physicians. On 16 July 1977, Reye died at the age of 65, of a ruptured abdominal aortic aneurysm at Royal North Shore Hospital, 24 hours after he had retired from the RAHC. Contributions Nemaline myopathy In 1958, Reye identified a disease that invol ...
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Cerebral Edema
Cerebral edema is excess accumulation of fluid ( edema) in the intracellular or extracellular spaces of the brain. This typically causes impaired nerve function, increased pressure within the skull, and can eventually lead to direct compression of brain tissue and blood vessels. Symptoms vary based on the location and extent of edema and generally include headaches, nausea, vomiting, seizures, drowsiness, visual disturbances, dizziness, and in severe cases, death. Cerebral edema is commonly seen in a variety of brain injuries including ischemic stroke, subarachnoid hemorrhage, traumatic brain injury, subdural, epidural, or intracerebral hematoma, hydrocephalus, brain cancer, brain infections, low blood sodium levels, high altitude, and acute liver failure. Diagnosis is based on symptoms and physical examination findings and confirmed by serial neuroimaging ( computed tomography scans and magnetic resonance imaging). The treatment of cerebral edema depends on the ...
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Mannitol
Mannitol is a type of sugar alcohol used as a sweetener and medication. It is used as a low calorie sweetener as it is poorly absorbed by the intestines. As a medication, it is used to decrease pressure in the eyes, as in glaucoma, and to lower increased intracranial pressure. Medically, it is given by injection or inhalation. Effects typically begin within 15 minutes and last up to 8 hours. Common side effects from medical use include electrolyte problems and dehydration. Other serious side effects may include worsening heart failure and kidney problems. It is unclear if use is safe in pregnancy. Mannitol is in the osmotic diuretic family of medications and works by pulling fluid from the brain and eyes. The discovery of mannitol is attributed to Joseph Louis Proust in 1806. It is on the World Health Organization's List of Essential Medicines. It was originally made from the flowering ash and called manna due to its supposed resemblance to the Biblical food. Man ...
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Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that disease#Terminology, the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of heredity, inherited syndromes. About one third of all phenotypes that are listed in Online Mendelian Inheritance in Man, OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of sig ...
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Hepatomegaly
Hepatomegaly is enlargement of the liver. It is a non-specific sign (medicine), medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The patient 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 Blood vessel, vascular swelling, inflammation (infectious in origin), and deposition of (1) non-hepatic cells or (2) increased cell contents (such as that due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and Abdominal examination, physical examination, wherein the latter typicall ...
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Prothrombin Time
The prothrombin time (PT) – along with its derived measures of prothrombin ratio (PR) and international normalized ratio (INR) – is an assay for evaluating the Coagulation#Extrinsic pathway, extrinsic pathway and Coagulation#Common pathway, common pathway of coagulation. This blood test is also called ''protime INR'' and ''PT/INR''. They are used to determine the Thrombophilia, clotting tendency of blood, in conditions such as the measure of warfarin dosage, liver damage (cirrhosis), and vitamin K status. PT measures the following Coagulation#Coagulation factors, coagulation factors: fibrinogen, I (fibrinogen), thrombin, II (prothrombin), Factor V, V (proaccelerin), Factor VII, VII (proconvertin), and Factor X, X (Stuart–Prower factor). PT is often used in conjunction with the partial thromboplastin time, activated partial thromboplastin time (aPTT) which measures the Coagulation#intrinsic pathway, ''intrinsic'' pathway and common pathway of coagulation. Laboratory measur ...
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Hypoglycemia
Hypoglycemia (American English), also spelled hypoglycaemia or hypoglycæmia (British English), sometimes called low blood sugar, is a fall in blood sugar to levels below normal, typically below 70 mg/dL (3.9 mmol/L). Whipple's triad is used to properly identify hypoglycemic episodes. It is defined as blood glucose below 70 mg/dL (3.9 mmol/L), symptoms associated with hypoglycemia, and resolution of symptoms when blood sugar returns to normal. Hypoglycemia may result in headache, tiredness, clumsiness, trouble talking, confusion, fast heart rate, sweating, shakiness, nervousness, hunger, loss of consciousness, seizures, or death. Symptoms typically come on quickly. Symptoms can remain even soon after raised blood level. The most common cause of hypoglycemia is diabetes medication, medications used to treat diabetes such as insulin (medication), insulin, sulfonylureas, and biguanides. Risk is greater in diabetics who have eaten less than usual, recently exe ...
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Hyperammonemia
Hyperammonemia, or high ammonia levels, is a metabolic disturbance characterised by an excess of ammonia in the blood. Severe hyperammonemia is a dangerous condition that may lead to brain injury and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine by the kidneys. The metabolic pathways that synthesize urea involve reactions that start in the mitochondria and then move into the cytosol. The process is known as the urea cycle, which comprises several enzymes acting in sequence. It is greatly exacerbated by common zinc deficiency, which raises ammonia levels further. Levels Normal blood ammonia levels in adults range from 20 to 50μmol/L or less than 26 to 30μmol/L. There is at present no clear scientific consensus on the upper limits of ammonia levels for different age groups. In any case, hyperammonemia is generally defi ...
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Inborn Errors Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates) into others ( products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene–one enzyme" ...
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