We focus on the anaesthesiology and requirements for minimally invasive procedures for treating localized prostate cancer. The management of anaesthesia for laparoscopic and endoscopic radical prostatectomy (RP) can be more complex than expected. Numerous groups, especially early in their experience, have had problems (e.
View Article and Find Full Text PDFMalignant hyperthermia (MH) is a pharmacogenetic disorder with an autosomal dominant inheritance. During exposure to triggering agents as volatile anaesthetics, affected individuals may develop a potentially fatal hypermetabolic syndrome caused by excessive calcium release from the sarcoplasmic reticulum in skeletal muscle. More than 60 MH associated mutations were found in the gene of skeletal muscle ryanodine receptor (RyR1), but only some of them have been functionally characterized.
View Article and Find Full Text PDFCentral core disease (CCD) is a congenital disorder of skeletal muscle that is characterised histologically by typical central cores in type 1 skeletal muscle fibres. This disease is associated with malignant hyperthermia susceptibility and has been linked to the gene of skeletal muscle ryanodine receptor RYR1. In this study, we present a family with the spontaneous occurrence of the RYR1 Ile2453Thr mutation.
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