A second family demonstrating the homozygote for fluoride-resistant pseudocholinesterase variant.
نویسندگان
چکیده
منابع مشابه
Progressing ischemic stroke in a homozygote with variant antithrombin III.
A 31-year-old woman developed disturbance of consciousness and left hemiparesis. Cerebral computed tomograms showed a low-density area in the right temporal lobe that extended to the right parietal and left frontal lobes as her clinical symptoms worsened. The diagnosis of familial variant of antithrombin III (AT-III) was based on decreased biologic activity and a normal immunologic level of AT-...
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Genetically controlled variation is well established for cholinesterase in human serum, now known as acylcholine acylhydrolase (A.C.A.H., Enzyme Commission No. 3.1.1.8). Stimulus for investigation of variants of the enzyme arose from the observation that one genetic variant designated as atypical was responsible for prolonged apnoea following a standard dose of the muscle relaxant, succinylchol...
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Cholinesterase phenotyping studies have been carried out in two laboratories on blood specimens from 28 patients shown to be susceptible to malignant hyperpyrexia. In contrast to previously published reports, no evidence could be found for an increase in the frequency of the E1u E1f genotype above that known to occur in the general population.
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Limitation of family size after the birth of a child with a serious disorder poses a problem in demonstrating autosomal recessive inheritance. In this paper methods are presented for distinguishing autosomal recessive inheritance given a 100% deterrent effect, and revealing a partial deterrent effect by analysis of sibship size and comparison with general population data. These methods are illu...
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L ong before the passionate debates over cigarettes, DDT, asbestos or the ozone hole, most Americans had heard of only one environmental health controversy: fluoridation. Starting in the 1950s, hundreds of communities across the U.S. became embroiled in heated battles over whether fluorides—ionic compounds containing the element fluorine—should be added to their water systems. On one side was a...
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ژورنال
عنوان ژورنال: BMJ
سال: 1966
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.2.5507.215