תוצאת חיפוש

Water Intoxication following Desmopressin Overdose

D. Segal-Kuperschmit, O. Dali-Gotfrid, A. Luder

Pediatric Dept., Rebecca Sieff Hospital, Safed

Water intoxication is a serious condition which may be caused by desmopressin overdose, with reversible or irreversible neurological complications. In the past, desmopressin was used in endocrinological centers for the treatment of anti-diuretic hormone deficiency (central diabetes insipidus). Indications for hormone treatment have since widened, especially as an effective solution for nocturnal enuresis. It is now often prescribed in community clinics, and its use has been encouraged by extensive promotion. We describe a 15-year-old boy with primary nocturnal enuresis who started treatment with desmopressin 1 year prior to admission. He was allowed to use the drug without supervision, and drank excessively. The result was water intoxication which required admission for intensive care because of loss of consciousness and convulsions for 36 hours.

Familial Adenomatous Polyposis: Establishing a Registry and Genetic and Molecular Analysis

R. Shomrat, R. Bruchim, Y. Galanty, Z. Samuel, C. Legum, M. Rabau, P. Rozen

Genetic Institute and Depts. of Gastroenterology and Surgery, Tel Aviv Medical Center and Sackler Faculty of Medicine, Tel Aviv University

Familial adenomatous polyposis (FAP), a dominantly inherited disease, is caused by a mutation in the adenomatous polyposis coli gene in chromosome 5q21. The gene has 15 exons, a physical length of 10 Kb and an open reading frame of 8.5 Kb. Exon 15 codes 66% of the mRNA and has a mutation cluster region which accounts for over 50% of mutations. The disease usually leads to the appearance of hundreds of adenomatous polyps in the transverse and descending colon between puberty and age 20 years and to colon cancer before the age of 40. Early detection is essential to prevent the development of metastasizing cancer. Since 1994 we have recruited 23 families for genetic counseling. DNA was obtained from 19 unrelated FAP patients and 219 high risk relatives in 19 unrelated families following confirmation of the diagnosis. In addition to linkage studies, direct mutational analysis was performed using the protein truncation test for most of exon 15 and single strand conformation polymorphism analysis for the other exons. These exons account for most of the mutations identified to date. Of 19 unrelated probands, 14 had detectable mutations. Exon 15 accounted for 6 families, exons 5, 7 and 14 for 1 each, exon 9 for 3, and exon 8 for 2. Combined mutational and linkage analysis identified 18 presymptomatic carriers who received genetic and clinical counseling. Our FAP patients did not differ significantly from those of larger studies in other countries with regard to the distribution of the mutations, gender and genotype-phenotype correlation, or ethnic distribution.

The Serotonin Syndrome

L. Broude, I. Iancu, O.T. Dolberg, J. Zohar

Psychiatric Division, Chaim Sheba Medical Center, Tel Hashomer

The frequent use of selective, serotonin reuptake inhibitors has increased the risk of the serotonin syndrome. This condition is related to stimulation of 5HT1A receptors and is characterized by agitation, confusion, tremor, fever and shivering. A 29-year-old woman and a 69-year-old man with the syndrome are reported, The importance of early diagnosis and treatment is emphasized, and aspects of the syndrome in patients with obsessive-compulsive disorder are presented.

Differentiated Thyroid Cancer In Arabs In Northern Israel

J. Zidan, S. Kassem, D. Karen, A. Kuten, E. Robinson

Northern Israel Oncology Center, Rambam Medical Center, and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

Prognostic factors and survival rate of 53 Arabs with differentiated carcinoma of the thyroid treated here were reviewed. Papillary carcinoma was diagnosed in 35 (66%) and follicular carcinoma in 18 (34%); the female/male ratio was 2.3/1 and the median age 32. Age, gender, tumor size, histology and tumor stage were important prognostic factors. The 20-year actuarial survival rate of the entire group was 96%. The probable reason for the high survival rate was the low median age.