Sökning: "Malignant hyperthermia susceptibility"

Hittade 2 avhandlingar innehållade orden Malignant hyperthermia susceptibility.

  1. 1. In vitro contracture testing for the diagnosis of malignant hyperthermia susceptibility

    Författare :Gunilla Islander; Anestesiologi och intensivvård; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intensive care; Anestesiologi; Anaesthesiology; specificity; IVCT; Malignant hyperthermia susceptibility; skeletal muscle; inheritance pattern; sensitivity; reproducibility; intensivvård;

    Sammanfattning : Malignant hyperthermia (MH) susceptibility is a rare inherited muscular disorder, which may cause a lethal increase in metabolism during anaesthesia with certain commonly used anaesthetic. Susceptible individuals are without any signs or symptoms. It is important to identify individuals at risk, since the MH reaction is preventable. LÄS MER

  3. 2. Anaesthesia and Genetics of the Ryanodine 1 Receptor

    Författare :Marcus Ewert Broman; Lund Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; General Anaesthesia; Ryanodine 1 Receptor; Malignant Hyperthermia; Genetics;

    Sammanfattning : The only validated method to characterize the phenotype and to reach a definitive diagnosis of Malignant Hyperthermia Susceptibility (MHS; OMIM *145600), a pharmacogenetic disease linked to the Ryanodine 1 receptor gene (RYR1; OMIM *180901), is an invasive muscle contraction test requiring a muscle biopsy, according to the European (IVCT) protocol or to the North American (CHCT) protocol. The series of scientific papers in this thesis tries to reach as far as possible in diagnosing MHS from peripheral venous blood samples collected at the patients’ local primary care provider and sent to the laboratory over significant transportation time and distance. LÄS MER