Genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
Conclusions: Heterozygous R163C mice represent a valid model for studying the mechanisms that cause the human malignanthyperthermiasyndrome.
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An IVCT according to the protocol of the European MalignantHyperpyrexia Group (EMHG) was performed on muscle specimens of 12 patients.
Uso de malignant hyperthermia em inglês
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The variants were identified in families affected by either malignanthyperthermia or central core disease.
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Coroner Phillip Byrne on Monday found Louis died from the extremely rare condition malignanthyperthermia.
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Based on the symptoms and laboratory investigations, this episode suggested a moderate form of malignanthyperthermia.
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Four patients had episodes resembling malignanthyperthermia.
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Conclusions: Heterozygous R163C mice represent a valid model for studying the mechanisms that cause the human malignanthyperthermia syndrome.
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Finally, patients with Brody disease may be at risk for malignanthyperthermia-like episodes, and therefore appropriate perioperative measures are recommended.
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Background: Central core disease and malignanthyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling.
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We report two families both presenting with malignanthyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue.
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Methods: With eye tracking technology, we compared the accessibility of five malignanthyperthermia cognitive aids by collecting gaze data from twelve volunteer participants.
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An in vitro contracture test was performed and a predisposition to malignanthyperthermia was diagnosed; other muscular diseases were excluded by histological examination.
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For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignanthyperthermia or central core disease.
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Human malignanthyperthermia is a life-threatening genetic sensitivity of skeletal muscles to volatile anaesthetics and depolarizing neuromuscular blocking drugs occurring during or after anaesthesia.
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Malignanthyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function.