Acanthocyte
Acanthocyte (from the Greek word ἄκανθα ''acantha'', meaning 'thorn'), in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes. Acanthocytes have coarse, irregularly spaced, variably sized crenations, resembling many-pointed stars. They are seen on blood films in abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several inherited neurological and other disorders such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease. Usage Spur cells may refer synonymously to acanthocytes, or may refer in some sources to a specific subset of 'extreme acanthocytes' that have undergone splenic modification whereby additional cell membrane loss has b ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Acanthocytosis
Acanthocyte (from the Greek word ἄκανθα ''acantha'', meaning 'thorn'), in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes. Acanthocytes have coarse, irregularly spaced, variably sized crenations, resembling many-pointed stars. They are seen on blood films in abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several inherited neurological and other disorders such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease. Usage Spur cells may refer synonymously to acanthocytes, or may refer in some sources to a specific subset of 'extreme acanthocytes' that have undergone spleen, splenic modification whereby additional cell membrane loss ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Neuroacanthocytosis
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN). The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia. The diseases are hereditary but rare. Acanthocytes The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. ''Acanthocytosis'' originated from the Greek word ''acantha'', meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by altered ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Abetalipoproteinemia
Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia. It is a rare autosomal recessive disorder. Presentation Symptoms Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear ''en masse''. These symptoms come as follows: * Failure to thrive (i.e. failure to grow in infancy) * Steatorrhea (i.e. fatty, pale stools) * Frothy stools * Foul smelling stools * Protruding abdomen * Intellectual dis ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Crenation
Crenation (from modern Latin ''crenatus'' meaning "scalloped or notched", from popular Latin ''crena'' meaning "notch") in botany and zoology, describes an object's shape, especially a leaf or shell, as being round-toothed or having a scalloped edge. The descriptor can apply to objects of different types, including cells, where one mechanism of crenation is the contraction of a cell after exposure to a hypertonic solution, due to the loss of water through osmosis. In a hypertonic environment, the cell has a lower concentration of solutes than the surrounding extracellular fluid, and water diffuses out of the cell by osmosis, causing the cytoplasm to decrease in volume. As a result, the cell shrinks and the cell membrane develops abnormal notchings. Pickling cucumbers and salt-curing of meat are two practical applications of crenation. Plasmolysis is the term which describes plant cells when the cytoplasm shrinks from the cell wall in a hypertonic environment. In plasmolysis ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Chronic Granulomatous Disease
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. This leads to the formation of granulomas in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year. This condition was first discovered in 1950 in a series of 4 boys from Minnesota, and in 1957 it was named "a fatal granulomatosus of childhood" in a publication describing their disease. The underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967, and research since that time has further elucidated the molecular mechanisms underlying the disease. Bernard Babior made key contributions in linking the ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Synonym
A synonym is a word, morpheme, or phrase that means exactly or nearly the same as another word, morpheme, or phrase in a given language. For example, in the English language, the words ''begin'', ''start'', ''commence'', and ''initiate'' are all synonyms of one another: they are ''synonymous''. The standard test for synonymy is substitution: one form can be replaced by another in a sentence without changing its meaning. Words are considered synonymous in only one particular sense: for example, ''long'' and ''extended'' in the context ''long time'' or ''extended time'' are synonymous, but ''long'' cannot be used in the phrase ''extended family''. Synonyms with exactly the same meaning share a seme or denotational sememe, whereas those with inexactly similar meanings share a broader denotational or connotational sememe and thus overlap within a semantic field. The former are sometimes called cognitive synonyms and the latter, near-synonyms, plesionyms or poecilonyms. Lexicograph ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Spleen
The spleen is an organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The word spleen comes .σπλήν Henry George Liddell, Robert Scott, ''A Greek-English Lexicon'', on Perseus Digital Library The spleen plays very important roles in regard to s (erythrocytes) and the . It removes old red blood cells and holds a reserve of blood, which can be valuable in case of [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Spherocyte
Spherocytosis is the presence of spherocytes in the blood, i.e. erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having ''only'' spherocytes. Causes Spherocytes are found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive Coombs test#Direct antiglobulin test, direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis). A complete blood count (CBC) may show increased reticulocytes, a sign of increased red blood cell production, and decreased hemoglobin and hematocrit. The term "non-hereditary spherocytosis" is oc ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Microsomal Triglyceride Transfer Protein
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the ''MTTP'' gene. MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triaglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. Interactive pathway map Pharmacology Drugs that inhibit MTTP prevent the assembly of apo B-containing lipoproteins thus inhibiting the synthesis of chylomicrons and VLDL Very-low-density lipoprotein (VLDL), density relative to extracellular water, is a type of lipoprotein made by the liver. VLDL is one of the five major groups of lipoproteins (chylomicrons, VLDL, intermediate-density lipoprotein, low-density lipo ... and leading to decrease in ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Splenomegaly
Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulating blood cells affecting granulocytes, erythrocytes or platelets in any combination; a compensatory proliferative response in the bone marrow; and the potential for correction of these abnormalities by splenectomy. Splenomegaly is usually associated with increased workload (such as in hemolytic anemias), which suggests that it is a response to hyperfunction. It is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen. Other common causes include congestion due to portal hypertension and infiltration by leukemias and lymphomas. Thus, the finding of an enlarged spleen, along with caput medusae, is an important sign of portal hypertension. Definiti ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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APOA2
Apolipoprotein A-II is a protein that in humans is encoded by the ''APOA2'' gene. Function ''APOA2'' encodes apolipoprotein A-II, (ApoA-II) which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. Interactions ApoA-II has been shown to interact with phospholipid transfer protein Phospholipid transfer protein is a protein that in humans is encoded by the ''PLTP'' gene. Function The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholip .... Interactive pathway map References External links * Further reading * * * * * * * * * * * * * * * * * * * Apolipoproteins {{gene-1-stub ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |