Israel Medical Association Journal

Background: The mainstay of therapy for acute cholecystitis is cholecystectomy, which has a mortality of 14–30% in high risk patients. An alternative approach in patients suffering from acute cholecystitis with contraindications to emergency surgery is percutaneous cholecystostomy.

Objective: To evaluate the efficacy and safety of percutaneous cholecystostomy as the initial treatment of acute cholecystitis in high risk patients.

Methods: Eighty consecutive patients (42 men, 38 women) underwent ultrasound-guided percutaneous cholecystostomy over a 5 year period. Sixty-five patients suffered from acute calculous cholecystitis, 4 patients had acalculous cholecystitis, and 11 patients had sepsis of unknown origin.

Results: Sixty-eight patients improved after the percutaneous gallbladder drainage, 10 patients died from co-morbid disease and 2 patients died from biliary peritonitis. During a 1 year follow-up, 32 of the patients underwent interval cholecystectomy, 4 additional patients died from a co-morbid disease, 18 patients did not suffer from any gallbladder symptoms, and 14 were lost to follow-up.

Conclusions: Percutaneous cholecystostomy is an effective contribution to the treatment of acute cholecystitis in high risk patients.

Behavioral genetics is the identification of behavioral traits that are genetically determined, the identification of the genes that are involved, and the discovery of modes of intervention to alter the expected course of the disease. Unlike the classical Mendelian traits, many specific aspects of behavior are, in part, determined by several genes. The corresponding abnormalities of behavior or deficiencies are therefore polygenic. New genetic techniques are leading to the discovery of these genes, and the techniques and knowledge developed in the Human Genome Project make it possible to screen the genome of any individual for the presence of known polymorphisms. This raises great hopes for diagnosis and the individualization of therapy. However, the genetic prediction of unacceptable behavior can further lead to social and occupational discrimination and enforced therapy. This raises serious concerns about how this information will be collected and who will have access to it.

Background: An increased risk of developing cancer of the skin is the only potentially serious (albeit unproven) long-term side effect of heliotherapy and it is therefore prudent to avoid unnecessary exposure to solar ultraviolet radiation. Traditional heliotherapy for psoriasis at the Dead Sea calls for a sun exposure of 5–6 hours daily for 28 days. Studies have determined that mid-summer exposure for 3 hours is equally effective.

Objectives: To determine the effect of 3 hours sun exposure daily in the heliotherapy of psoriasis at the Dead Sea during the months March to December; and to monitor the associated ambient doses of solar UVB[1] radiation.

Methods: A total of 194 patients with moderate to severe psoriasis was treated in the months of March-December by 3 hours of sun exposure each day. The dose of ambient solar UVB was monitored by a Solar Model 501A UVB-Biometer.

Results: Three hours of sun exposure daily was therapeutically efficacious in all months from March to November, but not in December. The lowest effective cumulative UVB dose was 170 standard erythema dose, recorded in March and November.

Conclusions: Daily sun exposure for the heliotherapy of psoriasis at the Dead Sea can be reduced to at least 3 hours daily, about half the time originally recommended.

Background: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD[1]) phenotype.

Objectives: To describe unusual cases with large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype

Methods: Screening for dystrophin gene deletion was performed on genomic DNA by using multiplex polymerase chain reaction. Needle muscle biopsies from the quadriceps were obtained using a BergstrÖm needle. The biopsies were stained with histologic and histochemical techniques as well as monoclonal antibodies to dystrophin 1, 2 and 3.

Results: In three children with large in-frame deletions of the rod domain (exons 10–44, 13–40 and 3–41), early-onset weakness and a disease course suggested the DMD[2] phenotype.

Conclusions: This observation emphasizes the uncertainty in predicting the Becker phenotype in a young patient based on laboratory evaluation, and that the clinical picture should always be considered.