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Duchenne and Becker muscular dystrophies are among the most severe and frequent inherited disorders. Being still incurable, medical treatment is concentrated on the carrier diagnosis of the members of the affected families. Here we report the results of the studies of 151 members of 41 Hungarian families, obtained with multiplex PCR amplification of 18 exons as well as the muscle specific promoter region, and haplotype analysis of two polymorphic (CA)n repeat microsatellite loci in introns 45 and 49 of the dystrophin gene. The analysis of 15 deletion-type families revealed a frequency of new mutations not differing significantly from that in the other regions of Europe. We also compared the allele distributions of the two microsatellites in randomly selected normal individuals and affected family members. The allele distribution of STRP45 shows interesting differences between the two populations.  相似文献   
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Local hyperthermia of the prostate was used to treat 72 patients who had an indwelling catheter because of urinary retention caused by benign prostatic hypertrophy. One month after completion of treatment 50% of patients were able to dispense with the catheter and 1 year later 40% remained catheter-free. The best results were achieved in patients who underwent 6 to 10 treatment sessions in conjunction with cyproterone acetate 50 mg tid administered during the treatment period only.  相似文献   
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The involuntary hospitalisation of psychiatric patients continues to be a controversial issue. All patients certified and admitted to Sterkfontein Hospital under Sections 9 and 12 of the Mental Health Act, No. 18 of 1973, over a 4-week period were surveyed. Almost 40% were admitted as urgent certifications. The majority of the patients in the sample were black, single, urban and had either primary or limited high school education. Most patients had been referred from academic/teaching and provincial hospitals. The average duration of hospital stay was 7.2 weeks, with only 1 patient eventually being transferred to a ward for chronic patients within the hospital, which suggests that Sterkfontein Hospital functions largely as an acute psychiatric facility. There was a discrepancy of approximately 30% between the assessments of the certifying and ward doctors, probably as a result of differing uses of terminology. Not only are more community psychiatric services needed, but communication between psychiatry and the other medical disciplines should be improved.  相似文献   
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Prolongation of the action potential duration of dorsal root ganglion (DRG) neurons by low (nM) concentrations of opioids occurs through activation of excitatory opioid receptors that are positively coupled via Gs regulatory protein to adenylate cyclase. Previous results suggested GM1 ganglioside to have an essential role in regulating this excitatory response, but not the inhibitory (APD-shortening) response to higher (μM) opioid concentrations. Furthermore, it was proposed that synthesis of GM1 is upregulated by prolonged activation of excitatory opioid receptor functions. To explore this possibility we have utilized cultures of hybrid F11 cells to carry out closely correlated electrophysiological and biochemical analyses of the effects of chronic opioid treatment on a homogeneous population of clonal cells which express many functions characteristic of DRG neurons. We show that chronic opioid exposure of F11 cells does, in fact, result in elevated levels of GM1 as well as cyclic adenosine monophosphate (AMP), concomitant with the onset of opioid excitatory supersensitivity as manifested by naloxone-evoked decreases in voltage-dependent membrane K+ currents. Such elevation of GM1 would be expected to enhance the efficacy of excitatory opioid receptor activation of the Gs/adenylate cyclase/cyclic AMP system, thereby providing a positive feedback mechanism that may account for the remarkable supersensitivity of chronic opioid-treated neurons to the excitatory effects of opioid agonists as well as antagonists. These in vitro findings may provide novel insights into the mechanisms underlying naloxone-precipitated withdrawal syndromes and opioid-induced hyperalgesia after chronic opiatf addiction in vivo. © 1995 Wiley-Liss, Inc.  相似文献   
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