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Sideroblastic Anemia
Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). In sideroblastic anemia, the body has iron available but cannot incorporate it into hemoglobin, which red blood cells need in order to transport oxygen efficiently. The disorder may be caused either by a genetic disorder or indirectly as part of myelodysplastic syndrome, which can develop into hematological malignancies (especially acute myeloid leukemia). Sideroblasts ('' sidero-'' + '' -blast'') are nucleated erythroblasts (precursors to mature red blood cells) with granules of iron accumulated in the mitochondria surrounding the nucleus. Normally, sideroblasts are present in the bone marrow, and enter the circulation after maturing into a normal erythrocyte. The presence of sideroblasts ''per se'' does not define sideroblastic anemia. Only the finding of ring (or ringed) sideroblasts characterizes siderobl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prussian Blue
Prussian blue (also known as Berlin blue, Brandenburg blue, Parisian and Paris blue) is a dark blue pigment produced by oxidation of ferrous ferrocyanide salts. It has the chemical formula . It consists of cations, where iron is in the oxidation state of +3, and anions, where iron is in the oxidation state of +2, so, the other name of this salt is iron(III) hexacyanoferrate(II). Turnbull's blue is essentially identical chemically, excepting that it has different impurities and particle sizes—because it is made from different reagents—and thus it has a slightly different color. Prussian blue was created in the early 18th century and is the first modern chemical synthesis, synthetic pigment. It is prepared as a very fine colloidal dispersion, because the compound is not soluble in water. It contains variable amounts of other ions and its appearance depends sensitively on the size of the colloidal particles. The pigment is used in paints, it became prominent in 19th-century ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lead Poisoning
Lead poisoning, also known as plumbism and saturnism, is a type of metal poisoning caused by lead in the body. Symptoms may include abdominal pain, constipation, headaches, irritability, memory problems, infertility, numbness and paresthesia, tingling in the hands and feet. It causes almost 10% of intellectual disability of otherwise unknown cause and can result in behavioral problems. Some of the effects are permanent. In severe cases, anemia, seizures, coma, or death may occur. Exposure to lead can occur by contaminated air, water, dust, food, or consumer products. Lead poisoning poses a significantly increased risk to children and pets as they are far more likely to ingest lead indirectly by chewing on toys or other objects that are coated in lead paint. Additionally, children absorb greater quantities of lead from ingested sources than adults. Exposure at work is a common cause of lead poisoning in adults with certain occupations at particular risk. Diagnosis is typically b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pyridoxine Deficiency
Vitamin B6 is one of the B vitamins, and is an essential nutrient for humans. The term essential nutrient refers to a group of six chemically similar compounds, i.e., "vitamers", which can be interconverted in biological systems. Its active form, pyridoxal 5′-phosphate, serves as a coenzyme in more than 140 enzyme reactions in amino acid, glucose, and lipid metabolism. Plants synthesize pyridoxine as a means of protection from the UV-B, UV-B radiation found in sunlight and for the role it plays in the synthesis of chlorophyll. Animals cannot synthesize any of the various forms of the vitamin, and hence must obtain it via diet, either of plants, or of other animals. There is some absorption of the vitamin produced by intestinal bacteria, but this is not sufficient to meet dietary needs. For adult humans, recommendations from various countries' food regulatory agencies are in the range of 1.0 to 2.0 milligrams (mg) per day. These same agencies also recognize ill effects from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombocytosis
In hematology, thrombocythemia is a condition of high platelet (thrombocyte) count in the blood. Normal count is in the range of 150 to 450 platelets per liter of blood, but investigation is typically only considered if the upper limit exceeds 750/L. When the cause is unknown, the term thrombocythemia is used, as either primary thrombocythemia or essential thrombocythemia. The condition arises from a fault in the bone marrow cells leading to over-production of platelets but the cause of the fault is unknown, and this type is not common. When the cause is known such as another disorder or disease, the term thrombocytosis is preferred, as either secondary or reactive thrombocytosis. Reactive thrombocytosis is the most common type and though it can often have no symptoms it can sometimes predispose to thrombosis. In contrast, thrombocytopenia refers to abnormally low blood platelet numbers in the blood. Signs and symptoms High platelet counts do not necessarily signal any clini ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelodysplastic Syndromes
A myelodysplastic syndrome (MDS) is one of a group of cancers in which blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may include fatigue, shortness of breath, bleeding disorders, anemia, or frequent infections. Some types may develop into acute myeloid leukemia. Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. Problems with blood cell formation result in some combination of low red blood cell, platelet, and white blood cell counts. Some types of MDS cause an increase in the production of immature blood cells (called blasts), in the bone marrow or blood. The different types of MDS are identified based on the specific characteristics of the changes in the blood cells and bone marrow. Treatments may include supportiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreatic Insufficiency
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas. EPI can occur in humans and is prevalent in many conditions such as cystic fibrosis, Shwachman–Diamond syndrome, different types of pancreatitis, multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), advanced renal disease, older adults, celiac disease, diarrhea-predominant irritable bowel syndrome (IBS-D), inflammatory bowel disease (IBD), HIV, alcohol-related liver disease, Sjogren syndrome, tobacco use, and use of somatostatin analogues. EPI is caused by a progressive loss of the pancreatic cells that make digestive enzymes. Loss of digestive enzymes leads to maldigestion and malabsorption of nutrients from normal digestive processes. EPI can cause symptoms even before reaching the stages of malnutrition: 'mild' or 'moderate' EPI is when fecal elastase levels are <200 ug/g, whereas 'severe' EPI is consid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myopathy
In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease ( Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defect is within the muscle, as opposed to the nerves (" neuropathies" or " neurogenic" disorders) or elsewhere (e.g., the brain). This muscular defect typically results in myalgia (muscle pain), muscle weakness (reduced muscle force), or premature muscle fatigue (initially normal, but declining muscle force). Muscle cramps, stiffness, spasm, and contracture can also be associated with myopathy. Myopathy experienced over a long period (chronic) may result in the muscle becoming an abnormal size, such as muscle atrophy (abnormally small) or a pseudoathletic appearance (abnormally large). Capture myopathy can occur in wild or captive animals, such as deer and kangaroos, and leads to morbidity and mortality. It usually occurs as a result o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. Dystaxia is a mild degree of ataxia. Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC25A38
Mitochondrial glycine transporter is a protein that in humans is encoded by the ''SLC25A38'' gene. SLC25A38 is involved in mitochondrial handling of glycine and is needed for the first step in heme synthesis. Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). In sideroblastic anemia, the body has iron available but cannot incorpora .... References Solute carrier family {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-inactivation
X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated in a particular embryonic cell is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism (its cell line). The result is that the choice of inactivated X chromosome in all the cells of the organism is a random distribution, often with about half the cells having the paternal X chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALAS2
Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ''ALAS2'' gene. ALAS2 is an aminolevulinic acid synthase. The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme Heme (American English), or haem (Commonwealth English, both pronounced /Help:IPA/English, hi:m/ ), is a ring-shaped iron-containing molecule that commonly serves as a Ligand (biochemistry), ligand of various proteins, more notably as a Prostheti ... biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. Its gene contains an IRE in its 5'-UTR region on which an IRP binds if the iron level is too low, thus inhibiting its translation. References Further reading * * * * * * * * * * * * * * * * * External links ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
