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Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in(More)
Malignant hyperthermia (MH) is a potentially lethal condition in which sustained muscle contracture, with attendant hypercatabolic reactions and elevation in body temperature, are triggered by commonly used inhalational anaesthetics and skeletal muscle relaxants. In humans, the trait is usually inherited in an autosomal dominant fashion, but in(More)
We have compared the combined effects of halothane, enflurane, isoflurane and methoxyflurane on caffeine-induced contractures of normal and malignant hyperthermia susceptible (MHS) skeletal muscle fascicles. We have found that caffeine contractures without and with the addition of any of these four anaesthetics are higher in MHS than in normal muscle. The(More)
Malignant hyperthermia (MH) is a devastating, potentially lethal response to anesthetics that occurs in genetically predisposed individuals. The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH. Furthermore, a Cys for Arg substitution tightly linked to, and potentially causative of, porcine MH has been identified in the(More)
To determine the incidence of malignant hyperthermia (MH) reactions after trigger-free anaesthesia in a large population of MH-susceptible (MHS) patients, the charts of 2,214 patients who underwent elective muscle biopsy for malignant hyperthermia were reviewed. Either general or regional anaesthesia with non-triggering drugs was used. For general(More)
Quercetin inhibited Ca2+-dependent ATP hydrolysis, ATP-dependent Ca2+ uptake, chelator-induced [ethylene glycol bis(beta-aminoethyl ether)-N,N,N',N'-tetraacetic acid] Ca2+ release, and ATP synthesis coupled to Ca2+ release in isolated vesicles of sarcoplasmic reticulum. Use of this inhibitor permitted evaluation of whether Ca2+ release from sarcoplasmic(More)
Twenty-one polymorphic sequence variants of the RYR1 gene, including 13 restriction fragment length polymorphisms (RFLPs), were identified by sequence analysis of human ryanodine receptor (RYR1) cDNAs from three individuals predisposed to malignant hyperthermia (MH). All RFLPs were detectable in PCR-amplified products, and their segregation was consistent(More)
Mean inspired oxygen levels, delivered by the Bennett PR1 and Bird Mark 7 ventilators, were measured at various cycling pressures. Using the Bird ventilator, oxygen levels varied from 51.5 to 96.8%, being highest at low flows and at high cycling pressures. The Bennett PR1 delivers more constant percentages of oxygen, in the range 61.5 to 72.3%. With both(More)