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Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. The only amino acid substitution found was an Arg2434His mutation, resulting from the substitution of A for G7301. This mutation was linked to CCD with a lod score of 4.8 at a recombinant fraction of 0.0 in 16 informative meioses in a 130 member family, suggesting a causal relationship to CCD.

Hospital treatment staff are constantly faced with the problem of psychiatric patients who discharge themselves against medical advice before their treatment is completed. A total of 50 patients who signed themselves out of the 9th floor service of the Clarke Institute of Psychiatry, over a two year period, were analyzed. When compared with a random sample of patients who remained for the duration of their treatment, the authors found the AMA patients to have the following characteristics: The patient is likely to be a young male, admitted as an emergency, remain in hospital for three days or less and have a diagnosis of personality disorder or schizophrenia. The authors conclude with a number of recommendations to assist in dealing with the problem.

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