acanthocytosis การใช้

• The'core'neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome.
• Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis.
• Chorea acanthocytosis is characterised by dystonia, chorea and progressive cognitive, behavioural changes and seizures.
• Strikingly, many people with chorea acanthocytosis uncontrollably bite their tongue, lips, and the inside of the mouth.
• Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.
• The'core'neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome.
• Mutation of XK protein may lead to McLeod syndrome, a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.
• Mouthguards and other physical protective devices may be useful in preventing damage to the lips and tongue due to the orofacial chorea and dystonia typical of chorea acanthocytosis.
• The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood . " Acanthocytosis " originated from the Greek word " acantha ", meaning thorn.
• Acanthocyte in chorea-acanthocytosis : fewer irregularly distributed spiculae, in living specimen ( DIC 945 x ) ( a ), standard staining ( BF 1000 x oil ) ( b ), and Scanning Electron Microscope ( c ).
• "' Chorea-acanthocytosis "'( ChAc, also called "'Choreoacanthocytosis "'), is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells.
• They are seen on blood films in, among others 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.
• "' Acanthocytosis "'can refer generally to the presence of this type of crenated red blood cell, such as may be found in severe cirrhosis or pancreatitis, This particular cause of acanthocytosis ( also known as abetalipoproteinemia, apolipoprotein B deficiency, and Bassen-Kornzweig syndrome ) is a rare, genetically inherited, autosomal recessive condition due to the inability to fully digest dietary fats in the intestines as a result of various mutations of the microsomal triglyceride transfer protein ( MTTP ) gene.
• "' Acanthocytosis "'can refer generally to the presence of this type of crenated red blood cell, such as may be found in severe cirrhosis or pancreatitis, This particular cause of acanthocytosis ( also known as abetalipoproteinemia, apolipoprotein B deficiency, and Bassen-Kornzweig syndrome ) is a rare, genetically inherited, autosomal recessive condition due to the inability to fully digest dietary fats in the intestines as a result of various mutations of the microsomal triglyceride transfer protein ( MTTP ) gene.