British journal of anaesthesia
-
Reproductive health is an active area of practice and research for anaesthetists, intensivists, and pain medicine specialists. The purpose of the British Journal of Anaesthesia is to promote the health, welfare, and safety of all persons by disseminating knowledge to further our understanding of anaesthetic principles and improve practice and skills. This includes supporting safe abortion care as an integral part of safe reproductive health.
-
A major bottleneck to the introduction of noninvasive presymptomatic diagnostic tests for the pharmacogenetic disorder malignant hyperthermia is the lack of functional data for associated variants. ⋯ Three (p.Tyr1711Cys, p.Val2280Ile, and p.Arg4737Gln) additional variants can be added to the list of RYR1 disease-associated variants managed by the European Malignant Hyperthermia Group. These can therefore be used diagnostically in the future. Three variants (p.Glu2348Gly, p.Asn2634Lys, and p.Arg3629Trp) that remained classified as of uncertain significance require further family studies or a different functional test to determine clinical relevance in malignant hyperthermia.