|
Pearson Syndrome
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome. It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare: fewer than a hundred cases have been reported in medical literature worldwide. The syndrome was first described by pediatric hematologist and oncologist Howard Pearson in 1979; the deletions causing it were discovered a decade later. Presentation Pearson syndrome is a very rare mitochondrial disorder characterized by health conditions such as sideroblastic anemia, liver disease and exocrine pancreas deficiency. Genetics Pearson syndrome is a mitochondrial dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Mitochondrial disease can manifest in many different ways whether in children or adults. Examples of mitochondrial diseases include: * Mitochondrial myopathy * Maternally inherited diabetes mellitus and deafness (MIDD) ** While diabetes mellitus and deafness can be found together for other reasons, at an early age this combination can be due to mitochondrial disease, as may occur in Kearns–Sayr ... [...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 breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Syndromes
Rare may refer to: * Rare, a particular temperature of meat * Something infrequent or scarce, see Scarcity :* Rare species, a conservation category in biology designating the scarcity of an organism and implying a threat to its viability Rare or RARE may also refer to: Acronyms * Ram Air Rocket Engine, a U.S. Navy program of the 1950s *Ronne Antarctic Research Expedition Music * Rare (Northern Irish band), a 1990s trip hop group * Rare (Serbian band), an alternative rock band Albums * ''Rare'' (Asia album), 1999 * ''Rare'' (David Bowie album), 1982 * ''Rare'' (Hundredth album), 2017 * ''Rare'' (Selena Gomez album) or the title song (see below), 2020 * '' Rare!'', by Crack the Sky, 1994 * '' Rare, Vol. 1'', by Ultravox, 1993 * '' Rare, Vol. 2'', by Ultravox, 1994 * ''Rare: The Collected B-Sides 1989–1993'', by Moby, 1996 * ''Rare'', by Xiu Xiu, 2012 Songs * "Rare" (Gwen Stefani song), 2016 * "Rare" (Selena Gomez song), 2020 * "Rare", by Man Overboard from ''Man O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Diseases
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the adenosine triphosphate, ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular disease, neuromuscular symptoms are known as mitochondrial myopathy, mitochondrial myopathies. Types Mitochondrial disease can manifest in many different ways whether in children or adults. Examples of mitochondrial diseases include: * Mitochondrial myopathy * Maternally inherited diabetes mellitus and deafness (MIDD) ** While diabetes mellitus and deafness can be found together for other reasons, at an early age this combination c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombocytopenia
In hematology, thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coagulation disorder among intensive care units, intensive care patients and is seen in a fifth of medical patients and a third of surgical patients. A normal human platelet count ranges from 150,000 to 450,000 platelets/microliter (μL) of blood. Values outside this range do not necessarily indicate disease. One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000/μL. Thrombocytopenia can be contrasted with the conditions associated with an abnormally ''high'' level of platelets in the blood – thrombocythemia (when the cause is unknown), and thrombocytosis (when the cause is known). Signs and symptoms Thrombocytopenia usually asymptomatic, has no symptoms and is picked up on a routine comp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neutropenia
Neutropenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria, bacterial fragments and immunoglobulin-bound viruses in the blood. People with neutropenia are more susceptible to bacterial infections and, without prompt medical attention, the condition may become life-threatening (neutropenic sepsis). Neutropenia can be divided into congenital and acquired, with severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) being autosomal dominant and mostly caused by heterozygous mutations in the ELANE gene ( neutrophil elastase). Neutropenia can be acute (temporary) or chronic (long lasting). The term is sometimes used interchangeably with "leukopenia" ("deficit in the number of white blood cells"). Decreased production of neutrophils is associated with deficiencies of vitamin B12 and fol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Cytopathy
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Mitochondrial disease can manifest in many different ways whether in children or adults. Examples of mitochondrial diseases include: * Mitochondrial myopathy * Maternally inherited diabetes mellitus and deafness (MIDD) ** While diabetes mellitus and deafness can be found together for other reasons, at an early age this combination can be due to mitochondrial disease, as may occur in Kearns–Sayre s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia of childhood (TEC) is a slowly developing anemia of early childhood characterized by gradual onset of pallor. Signs and symptoms Individuals with TEC have a median age of presentation of 18–26 months; however, the disorder may occur in infants younger than 6 months and in children as old as age 10 years. Because of the gradual onset of the anemia, children are often healthier than expected from their low hemoglobin levels. Cause The cause of TEC is unknown, but it thought to be triggered by a viral infection. While rare cases have been attributed to infection with parvovirus B19, the majority of cases are not related to parvovirus infection. This is in contrast to transient aplastic crisis, seen in patients with chronic disorders causing hemolysis such as sickle cell disease or hereditary spherocytosis, which is usually caused by parvovirus infection. Diagnosis Children typically present with a moderate normocytic anemia (usual range: hemoglobin 5-8 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aplastic Anemia
Aplastic anemia (AA) is a severe hematologic condition in which the body fails to make blood cells in sufficient numbers. Normally, blood cells are produced in the bone marrow by stem cells that reside there, but patients with aplastic anemia have a deficiency of all blood cell types: red blood cells, white blood cells, and platelets. It occurs most frequently in people in their teens and twenties but is also common among the elderly. It can be caused by immune disease, inherited diseases, or by exposure to chemicals, drugs, or radiation. However, in about half of cases, the cause is unknown. Aplastic anemia can be definitively diagnosed by bone marrow biopsy. Normal bone marrow has 30–70% blood stem cells, but in aplastic anemia, these cells are mostly gone and are replaced by fat. First-line treatment for aplastic anemia consists of immunosuppressive drugs—typically either anti-lymphocyte globulin or anti-thymocyte globulin—combined with corticosteroids, chemothera ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neutrophil
Neutrophils are a type of phagocytic white blood cell and part of innate immunity. More specifically, they form the most abundant type of granulocytes and make up 40% to 70% of all white blood cells in humans. Their functions vary in different animals. They are also known as neutrocytes, heterophils or polymorphonuclear leukocytes. They are formed from stem cells in the bone marrow and differentiated into subpopulations of neutrophil-killers and neutrophil-cagers. They are short-lived (between 5 and 135 hours, see ) and highly mobile, as they can enter parts of tissue where other cells/molecules cannot. Neutrophils may be subdivided into segmented neutrophils and banded neutrophils (or bands). They form part of the polymorphonuclear cells family (PMNs) together with basophils and eosinophils. The name ''neutrophil'' derives from staining characteristics on hematoxylin and eosin ( H&E) histological or cytological preparations. Whereas basophilic white blood cells ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatic Steatosis
Fatty liver disease (FLD), also known as hepatic steatosis and steatotic liver disease (SLD), is a condition where excess fat builds up in the liver. Often there are no or few symptoms. Occasionally there may be tiredness or pain in the upper right side of the abdomen. Complications may include cirrhosis, liver cancer, and esophageal varices. The main subtypes of fatty liver disease are metabolic dysfunction–associated steatotic liver disease (MASLD, formerly "non-alcoholic fatty liver disease" (NAFLD)) and alcoholic liver disease (ALD), with the category "metabolic and alcohol associated liver disease" (metALD) describing an overlap of the two. The primary risks include alcohol, type 2 diabetes, and obesity. Other risk factors include certain medications such as glucocorticoids, and hepatitis C. It is unclear why some people with NAFLD develop simple fatty liver and others develop nonalcoholic steatohepatitis (NASH), which is associated with poorer outcomes. Diagnosis is bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
