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Definition
 
enEnglish
Angina Pectoris, Variant definition: A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.
Variant Angina definition: (syn. Prinzmetal's angina or coronary artery vasospasm). It usually occurs spontaneously, and unlike typical angina, it nearly always occurs when a person is at rest and does not require physical exertion. It frequently is associated with transient ST-segment elevation. (NIH Roadmap Cardiovascular Data Standards Working Group)
Variant Angina definition: A variant form of angina pectoris caused by coronary artery vasospasm, usually occurring spontaneously and frequently associated with ST segment elevation.
Tay-Sachs Disease definition: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Tay Sachs disease definition: autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
Genetic Variation definition: The phenotypic and genotypic differences among individuals in a population.
Genetic Variation definition: Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
gangliosidosis GM1 definition: form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity.
Gangliosidosis, GM1 definition: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
gagliosidosis GM1, type I definition: A ganglioside storage disorder due to beta-galactosidase (EC 3.2.1.23) deficiency and abnormal accumulation of GM1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium due. The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, Hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in Hurler syndrome (mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. Severe cerebral degeneration follows with death in the first two years of life usually due to bronchopneumonia. The affected infants are often blind, deaf, and quadriplegic.
7 further definitions >>
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lezing definition: Conférence, exposé.
lezing definition: Lecture.
 
Publications
 

Emergence and Spread of Chlamydia trachomatis Variant, Sweden

Björn Herrmann et al.

Emerging Infectious Diseases , 01 Sep 2008

Bilateral variant testicular arteries with double renal arteries

Sarita Sylvia et al.

Cases Journal , 02 Feb 2009

Cytological and molecular diagnosis of solid variant of papillary thyroid carcinoma: A case report

Giancarlo Troncone et al.

CytoJournal , 19 Mar 2008

The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland

Simon N Stacey et al.

PLoS Medicine , 01 Jul 2006

Effects of time-variant exposure on toxic substance response.

P F Morrison

Environmental Health Perspectives , 01 Dec 1987

Hfq variant with altered RNA binding functions

Katarzyna Ziolkowska et al.

Nucleic Acids Research , 2006

A variant form of acute reversible cardiomyopathy: a case report

Apostolos Karavidas et al.

Journal of Medical Case Reports , 07 Mar 2008

The ‘Common Disease-Common Variant’ Hypothesis and Familial Risks: ... common disease-common variant (CDCV) hypothesis. The ...

Kari Hemminki et al.

PLoS ONE , 18 Jun 2008

BACH1 Ser919Pro variant and breast cancer risk

Pia Vahteristo et al.

BMC Cancer , 24 Jan 2006

[email protected]: a database of ethnically variant single-nucleotide polymorphisms

Jungsun Park et al.

Nucleic Acids Research , 01 Jan 2007

1405 further publications >>