Disease relevance of Malignant Hyperthermia

• Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia [1].
• This report may be the first description of a patient with neuroleptic malignant syndrome in whom muscle biopsy response similar to that seen in malignant hyperthermia occurred and documents that dantrolene is not uniformly successful therapy for this syndrome [2].
• Malignant hyperthermia. An allergic reaction to thioridazine therapy [3].
• These particles closely resembled VLP reported in the skeletal muscles in other conditions, e.g. Reye's syndrome, polymyositis, malignant hyperthermia, and chronic myopathy [4].
• 1. Problems in malignant hyperthermia linkage studies may arise from the inadequacy of the caffeine halothane contractures test for phenotypic diagnosis of malignant hyperthermia [5].

Psychiatry related information on Malignant Hyperthermia

• NMS shares features with malignant hyperthermia, serotonin syndrome, lethal catatonia, and heat stroke [6].
• A group of 43 pigs from eight litters of purebred Pietrains were identified as malignant hyperthermia susceptible by halothane testing, and their reaction time (measured in seconds from the onset of halothane administration of the onset of skeletal muscle rigidity) was recorded [7].

High impact information on Malignant Hyperthermia

• Functional alterations of Ca(2+) handling seem to be responsible for the pathophysiological conditions seen in dystrophinopathies, Brody's disease, and malignant hyperthermia [8].
• Increased myophosphorylase a in malignant hyperthermia [9].
• Letter: Procaine for malignant hyperthermia [10].
• Serum creatine kinase screening for susceptibility to malignant hyperthermia [11].
• Malignant hyperthermia (MH) is a hypermetabolic disease triggered by volatile anesthetics and succinylcholine in genetically predisposed individuals [12].

Chemical compound and disease context of Malignant Hyperthermia

• High skeletal muscle adenylate cyclase in malignant hyperthermia [13].
• Halothane inhibits InsP35-ase and further increases myoplasmic InsP3 and calcium ion concentrations, and produces the clinical features of malignant hyperpyrexia [14].
• Metabolic monitoring of the highly diffusible CO(2) stimulated by caffeine might allow a minimally invasive test for susceptibility to malignant hyperthermia [15].
• Propofol in malignant hyperthermia [16].
• The most common is malignant hyperthermia (MH), a dangerous hypermetabolic state after anaesthesia with suxamethonium and/or volatile halogenated anaesthetic agents [17].

Biological context of Malignant Hyperthermia

• However, localization of RYR to a region of human chromosome 19 which is syntenic to an area of pig chromosome 6 containing the HAL gene responsible for porcine malignant hyperthermia supports the candidacy of RYR for this disorder [18].
• Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype [19].
• Single strand conformational polymorphism analysis was used to screen exons 43 and 44 in the skeletal muscle ryanodine receptor gene from 17 positively diagnosed members of families in which chromosome 19-linked malignant hyperthermia (MH) was segregating [20].
• The porcine PHIcDNA linked to the halothane gene detects a NotI RFLP in normal and malignant hyperthermia susceptible pigs [21].
• The molecular defect predisposing to the majority of malignant hyperthermia (MH) cases is unknown, although various point mutations in the ryanodine receptor gene (RYR1) have been associated with susceptibility in a small proportion of cases [22].

Anatomical context of Malignant Hyperthermia

• The sarcoplasmic reticulum from muscle of swine which are susceptible to malignant hyperpyrexia is deficient in inositol 1,4,5-trisphosphate phosphatase (InsP35-ase) activity, which leads to high intracellular concentrations of inositol 1,4,5-trisphosphate (InsP3) and of calcium ions [14].
• Myotubes from the two patients affected by central core disease showed a 4-fold increase in the release of the inflammatory cytokine IL-6, compared with cells derived from control or malignant hyperthermia susceptible individuals [23].
• In the syndrome of malignant hyperpyrexia, halothane, succinylcholine and various other agents may induce a potentially fatal state of muscular rigidity and hypermetabolism in susceptible individuals as a result of a defect in the calcium transport function of the sarcoplasmic reticulum and possibly of other cellular membranes [24].
• Regulation of the ryanodine receptor (RYR) by Mg(2+) and SR luminal Ca(2+) was studied in mechanically skinned malignant hyperthermia susceptible (MHS) and non-susceptible (MHN) fibres from human vastus medialis [25].
• Effects of beta- and alpha-adrenergic agonists, adenosine, and carbachol in heart muscle isolated from malignant hyperthermia susceptible swine [26].

Gene context of Malignant Hyperthermia

• Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees [27].
• Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect [28].
• Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia [29].
• For clues on linkage relationships of human A1B, the previously known linkages of A1B in pigs and horses, including the one between A1B and the gene that determines susceptibility to malignant hyperthermia in pigs were discussed [30].
• CACNA2 encodes the alpha(2)/delta subunit of the human voltage-gated calcium channels and is located in the candidate region of malignant hyperthermia susceptibility type 3 (MHS3) [31].

Analytical, diagnostic and therapeutic context of Malignant Hyperthermia

• We postulated that intramuscular injection of caffeine increases local carbon dioxide pressure (pCO(2)) in individuals susceptible to malignant hyperthermia but not in those who are non-susceptible or in healthy individuals [15].
• Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis [32].
• Technetium-99m pyrophosphate scintigraphy in a patient with malignant hyperthermia [33].
• BACKGROUND: Phosphorus magnetic resonance spectroscopy (31P-MRS) in vivo has been suggested recently as a possible noninvasive diagnostic test in malignant hyperthermia (MH) susceptibility [34].
• Anesthesiologists from 65 institutions participated in a multicenter study to assess the efficacy of lyophilized intravenous dantrolene sodium in treating anesthetically related malignant hyperthermia (MH) [35].

References