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Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle protein called dysferlin. The protein is normally expressed at the skeletal muscle level and absent or reduced in affected patients. We selected a clinically heterogeneous population of Italian myopathic patients with clinical evidence of myopathy and/or hyperCKemia, EMG myopathic pattern, and no alterations of the dystrophin-sarcoglycan complex. Calpain, merosin, emerin and caveolin were also tested and found normal in all patients. Dysferlin immunohistochemical and Western blot analyses allowed us to identify six patients with dysferlin deficiency: one with distal myopathy, four with limb girdle myopathy and one with hyperCKemia. No apoptosis was found in any of the six muscle specimens, although expression of the pro-apoptotic Fas antigen was mildly increased in two cases. Inflammatory reactions were present in two of the six cases, but we found no evidence of immune-mediated processes. [ABSTRACT FROM AUTHOR]

In daily hospital activity a frequent observation is that of patients in conditions of acute global suffering of the central nervous system due to a primary cause or symptomatic of other diseases. This condition shows an alteration of the state of consciousness, which involves three possible semeiologic manifestations: delirium (acute confusional state), acute confusional state associated with psychomotor underactivity and coma. The possible causes of an acute encephalopathy (AE) are: metabolic, iatrogenic and toxic, infective, primary neurologic, surgery-related and others. Diagnostic-therapeutic routes to be followed by emergency room doctors and neurologists dealing with AE are defined. [ABSTRACT FROM AUTHOR]