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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] |
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 alte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Chorea Acanthocytosis
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease --evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include involuntary muscle movements, impaired balance and coordination,behavioral changes, memory problems,difficulty swallowing, speech difficulties, seizures, muscle weakness, personality changes,and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death. Chorea-acanthocytosis is a very complex autosomal recessive adult-onset neurodegenerative disorde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abetalipoproteinemia
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal 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 Initial symptoms usually appear in infancy, including: * Failure to thrive (i.e. failure to grow in infancy) * Steatorrhea (i.e. fatty, pale stools) * Frothy stools * Foul smelling stools * Protruding abdomen The rate of occurrence of additional symptoms later in life varies and increases with age. These may include: * Intellectual disability/developmenta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Echinocyte
Echinocyte (from the Greek word ''echinos'', meaning 'hedgehog' or 'sea urchin'), in human biology and medicine, refers to a form of red blood cell that has an abnormal cell membrane characterized by many small, evenly spaced thorny projections.Mentzer WC. Spiculated cells (echinocytes and acanthocytes) and target cells. UpToDate (release: 20.12- C21.4/ref> A more common term for these cells is burr cells. Physiology Echinocytes are frequently confused with acanthocytes, but the mechanism of cell membrane alteration is different. Echinocytosis is a reversible condition of red blood cells that is often merely an artifact produced by EDTA, which is used as an anticoagulant in sampled blood. Echinocytes can be distinguished from acanthocytes by the shape of the projections, which are smaller and more numerous than in acanthocytes and are evenly spaced. Echinocytes also exhibit central pallor, or lightening of color in the center of the cell under Wright staining. Causes In addition ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synonym
A synonym is a word, morpheme, or phrase that means precisely 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 may often be 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. Lexic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spleen
The spleen (, from Ancient Greek '' σπλήν'', splḗn) is an organ (biology), organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The spleen plays important roles in regard to red blood cells (erythrocytes) and the immune system. It removes old red blood cells and holds a reserve of blood, which can be valuable in case of Shock (circulatory), hemorrhagic shock, and also Human iron metabolism, recycles iron. As a part of the mononuclear phagocyte system, it metabolizes hemoglobin removed from senescent red blood cells. The globin portion of hemoglobin is degraded to its constitutive amino acids, and the heme portion is metabolized to bilirubin, which is removed in the liver. The spleen houses antibody-producing lymphocytes in its white pulp and monocytes which remove antibody-coated bacteria and antibody-coated blood cells by way of blood and lymph node circulation. These monocytes, upon moving to injured ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 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 occasionally used, albeit rarely. List ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microsomal Triglyceride Transfer Protein
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the ''MTTP'', also known as ''MTP'', gene. ''MTTP'' encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein (MTP). Protein disulfide isomerase (PDI) completes the heterodimeric MTP, which has been shown to play a central role in lipoprotein assembly. Mutations in ''MTTP'' can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL, IDL, and VLDL are important for MTP binding. MTP adds triglycerides to nascent chylomicrons in the intestine, and to VLDL in the liver. Structure The large subunit of MTP, also known as the alpha subunit, contains an N-terminal half beta barrel, an alpha helix and a C-terminal lipid binding site that lies between two beta pleated sheets. It is a member of the large lipid transfer protein family, like apolipoprotein B (apo B), with which it interacts, but unlike apo B, it is not secr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zieve Syndrome
Zieve's syndrome is an acute metabolic condition that can occur during withdrawal from prolonged heavy alcohol use. It is defined by hemolytic anemia (with spur cells and acanthocytes), hyperlipoproteinemia (excessive blood lipoprotein), jaundice (elevation of unconjugated bilirubin), and abdominal pain. The underlying cause is liver delipidization. This is distinct from alcoholic hepatitis which, however, may present simultaneously or develop later. Diagnosis of Zieve's syndrome should be considered in patients with prolonged alcohol use (especially after an episode of binge drinking) with an elevation of unconjugated bilirubin and without obvious signs of gastrointestinal bleeding. Pathogenesis The proposed mechanism of the characteristic haemolytic anemia in Zieve's syndrome is due to alteration of the red cell metabolism, namely pyruvate kinase instability leaving them susceptible to circulating hemolysin such as lysolecithin. Changes in membrane lipid compositions such as i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
