Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families

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.     

Local hyperthermia of the prostate gland for the treatment of benign prostatic hypertrophy and urinary retention.

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.     

Survey of certification practices for patients admitted to Sterkfontein Hospital

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.