Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia
نویسندگان
چکیده
منابع مشابه
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to establish an individual's risk of susceptibility to MH. Clinical practitioners and geneticists of the European MH Group have agreed on the present guidelines for the detection of MH susceptibility using molecular ...
متن کاملA protocol to manage malignant hyperthermia with general anesthesia.
Malignant hyperthermia (MH) is a disorder in genetically susceptible patients characterized by a hypermetabolic state triggered by agents used commonly during general anesthesia. The syndrome first was recognized in 1962 and is associated with tachycardia, muscle rigidity, increased oxygen demand, severe hyperpyrexia, metabolic acidosis, hyperkalemia, elevated serum enzyme creatinine phosphokin...
متن کاملSkeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility.
BACKGROUND Malignant hyperthermia (MH), a pharmacogenetic disorder of skeletal muscle, presents with a potentially lethal hypermetabolic reaction to certain anesthetics. However, some MH-susceptible patients experience muscle weakness, fatigue, and exercise intolerance in the absence of anesthetic triggers. The objective of this exploratory study was to elucidate the pathophysiology of exercise...
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 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: Brazilian Journal of Anesthesiology (English Edition)
سال: 2019
ISSN: 0104-0014
DOI: 10.1016/j.bjane.2019.02.003