Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics and depolarizing muscle relaxants. To date, six mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in malignant hyperthermia susceptible (MHS) and central core disease (CCD) cases. Using SSCP analysis, we have screened the RYR1 gene in affected individuals for novel MHS mutations and have identified a G to A transition mutation which results in the replacement of a conserved Gly at position 2433 with an Arg. The Gly2433Arg mutation was present in four of 104 unrelated MHS individuals investigated and was not detected in a normal population sample. This mutation is adjacent to the previously identified Arg2434His mutation reported in a CCD/MH family and indicates that there may be a second region in the RYR1 gene where MHS/CCD mutations cluste

Live Well, Eat Well, Be Active With Diabetes Curriculum Improves Type 2 Diabetes Management

Type 2 diabetes is a complex disease with several modifiable lifestyle factors. The Extension ‘Live well, Eat well, be Active with Diabetes’ curriculum provides four 90-minute lessons teaching individuals to live well, eat well, and be active with diabetes. Fourteen Extension educators implemented and evaluated the curriculum with 107 participants. Participants reported the program helped them feel better able to take care of their health. We observed significant differences in participants’ retrospective pre and post ‘Live well,’ ‘Eat well’ and ‘be Active’ total scores. Extension has a unique opportunity to educate individuals so they may better manage their diabetes

Les sols des forêts résineuses des Basses-Vosges

The development of molecular diagnostics that detect both the presence of Mycobacterium tuberculosis in clinical samples and drug resistance-conferring mutations promises to revolutionize patient care and interrupt transmission by ensuring early diagnosis. However, these tools require the identification of genetic determinants of resistance to the full range of antituberculosis drugs