Detecting susceptibility to malignant hyperthermia.
نویسندگان
چکیده
منابع مشابه
Malignant Hyperthermia
''Malignant Hypothermia'' syndrome is a rare, but dangerous occurrence, the aetiology of which is not known. Up to this date 180 cases have been reported. This syndrome i's seen generally in :male children over age of two years, and especially in adolescent males. Also those people with muscular abnormalities are more susciptable to this illnes'S. Anaesthetic agent such as halothane or muscular...
متن کاملMolecular genetic testing for malignant hyperthermia susceptibility.
BACKGROUND For more than 30 yr, the in vitro contracture test (IVCT) was the only appropriate diagnostic tool for malignant hyperthermia (MH). After the introduction of molecular genetics into MH research, guidelines for molecular genetic diagnosis of MH susceptibility were published. The aim of this study was to establish applicability of the guidelines, sensitivity, and specificity of genetic...
متن کاملMalignant hyperthermia susceptibility and the trauma patient.
Assorted casualties are expected from combat. Triage of the wounded may result in some going directly to surgery. Although every minute is essential, anesthetic care of these trauma patients must adhere to all established standards of care. A timely preoperative assessment must include identifying the patient's risk for malignant hyperthermia (MH). If a patient is found to be malignant hyperthe...
متن کاملCardiac manifestations of malignant hyperthermia susceptibility.
Malignant hyperthermia is a disease resulting from defective cellular membranes, usually presenting as drug-induced pyrexic crises. We describe four patients with life threatening ventricular arrhythmias or chest pain in the absence of pyrexic crises. Three presented with life threatening arrhythmias and the fourth with severe atypical chest pain. Two patients had a family history of multiple s...
متن کاملUsing exome data to identify malignant hyperthermia susceptibility mutations.
BACKGROUND Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes. METHODS Exome sequencing was performed on 870 voluntee...
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ژورنال
عنوان ژورنال: BMJ
سال: 1992
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.304.6830.791