Malignant hyperthermia: a statistical review.
Beverley A. Britt,Werner Kalow +1 more
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TLDR
The finding that males were somewhat more commonly affected than were females in patients who responded to general anaesthetics with malignant hyperthermia does not contradict previous observations of dominant inheritance of the syndrome.Abstract:
Information was collected on 89 patients who responded to general anaesthetics with malignant hyperthermia. The syndrome occurred at the rate of about one in 14,000 anaesthetics among a hospital population of children. The patient mortality was 64 per cent. The finding that males were somewhat more commonly affected than were females does not contradict previous observations of dominant inheritance of the syndrome. About one-third of patients had relatives who were also affected with malignant hyperthermia, although a few patients had had previous uneventful general anaesthetics. The racial origin was varied. A pre-existing muscle or musculoskeletal disease was present more frequently than expected in patients who manifested rigidity.read more
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Calcium release from the sarcoplasmic reticulum.
Fabiato A,F Fabiato +1 more
TL;DR: A review of the mechanism of Ca release from the SR of cardiac muscle and this is compared to release in skeletal muscle, and two processes have been proposed as possible links between the action potential of the sarcolemma and the release of Ca from theSR: the Ca-induced release ofCa and the "depolarization-induced"release of Ca.
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Voltage-Gated Ion Channels and Hereditary Disease
TL;DR: Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology, nephrology, and cardiology, with interesting parallels in mechanisms of disease emphasized.
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Incidence of intraoperative hypotension as a function of the chosen definition: literature definitions applied to a retrospective cohort using automated data collection.
Jilles B. Bijker,Wilton A. van Klei,Teus H. Kappen,Leo van Wolfswinkel,Karel G.M. Moons,Cor J. Kalkman +5 more
TL;DR: There is no widely accepted definition of Intraoperative hypotension and the relation between threshold values from the literature and IOH incidence shows an S-shaped cumulative incidence curve, with occurrence frequencies of IOH varying from 5% to 99%.
Journal ArticleDOI
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
Tommie V. McCarthy,J. M. S. Healy,James J. A. Heffron,M. Lehane,T. Deufel,Frank Lehmann-Horn,Martin Farrall,Martin Farrall,Keith J. Johnson +8 more
TL;DR: Linkage between MHS and DNA markers from the GPI region of human chromosome 19 with a maximum log likelihood ratio (lod score) of 5.65 indicates that human and porcine MH are most probably due to mutations in homologous genes, and provides a potentially accurate and noninvasive method of diagnosis for MHS.
Journal ArticleDOI
Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006.
TL;DR: Elevated temperature may be an early malignant hyperthermia sign and accurate temperature monitoring during general anesthetics and early dantrolene administration may decrease the 35% MH morbidity rate.
References
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Journal ArticleDOI
Anaesthetic deaths in a family
TL;DR: A local family is described in which there have been ten deaths attributable to general anaesthesia, and the pattern of inheritance of the abnormality is compatible with that due to an incompletely penetrant dominant gene or genes.
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Hereditary aspects of malignant hyperthermia
TL;DR: A large family tree did not support previously collected evidence in favour of this association with musculo-skeletal disease, although the pattern of inheritance appears to be that of autosomal dominance with reduced penetrance and variable expressivity.
Journal ArticleDOI
The modern treatment of shock based on physiologic principles.
TL;DR: The experimental data indicate that vasopressors intensify the visceral vasoconstriction, ischemia, and loss of capillary integrity characteristic of severe shock.
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Malignant hyperthermia: aetiology unknown.
B. A. Brut,Werner Kalow +1 more
TL;DR: Clinical and experimental evidence available to date indicate that the site of the defect is peripheral and not central, and changes in carbohydrate metabolism as indicated by lactic acid accumulation are prominent in pigs and presumably in man.