תוצאת חיפוש

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.

Cyclosporin for Severe Ulcerative Colitis

Z. Symon, R. Stalnikowich, R. Eliakim, Z. Ackerman, D. Rachmilewitz

Dept. of Medicine, Hadassah University Hospital, Mount Scopus and Hebrew University-Hadassah Medical School, Jerusalem

In recent years there have been numerous reports of successful treatment of resistant ulcerative colitis with cyclosporin. A series of 9 patients with moderate to severe active ulcerative colitis was treated with cyclosporin between September 1993 and October 1994. All 9 had failed to respond to conventional therapy, including salazopyrine and intravenous corticosteroids. They underwent colonoscopy and after contraindications to therapy were ruled out, received intravenous cyclosporin, 4 mg/kg/day for 7-10 days. They were discharged on oral cyclosporin with average serum levels maintained at 200 ng/ml. Response was assessed using the clinical score system of Schroeder et al. 2 out of 9 patients (22%) responded with full clinical remissions lasting more than 6 months. 6 patients had partial responses to the intravenous therapy, but symptoms resumed shortly after its cessation. Factors predicting favorable response to cyclosporin therapy were a shorter duration of disease with a fulminant clinical course. The success rate was less than that reported in the literature, possibly because of comparatively low serum cyclosporin levels. Potential complications of therapy and high cost preclude the routine use of cyclosporin in ulcerative colitis. Larger controlled studies are required to assess its efficacy and safety. Until such studies are available, cyclosporin may be tried in poor surgical risks or those not yet ready psychologically for total colectomy.

Volume Reduction Surgery in Emphysema

M.R. Kramer, I. Bar, I. Eidelman, M. Bublil, I. Nitzan, C. Sprung, S. Godfrey, G. Merin

Depts. of Cardiothoracic Surgery and Anesthesiology, and Institute of Pulmonology, Hadassah-University Hospital and Hebrew University-Hadassah Medical School, Jerusalem

Volume reduction surgery (VRS) is a new procedure based on the concept that relieving hyperinflation in emphysema improves diaphragmatic and chest wall mechanics and ventilation perfusion mismatch. We present our early experience with 16 patients who underwent VRS from August 1995 to June 1996. Patient selection was based on: PFT, CT scan, V/Q scan, ABG's and 6-min walk. After pulmonary rehabilitation, operation was by median sternotomy and bilateral lung shaving. Pulmonary function improved significantly. FEV1 increased from 0.68 ± 0.2 to 1.0 ± 0.2 L (p<0.01) and FVC increased from 1.7 ± 0.5 to 2.7 ± 0.5 L (p<0.017). Total lung capacity decreased from 129% ± 24% to 108% ± 20% (p<0.03). 6-min walk increased from 221 ± 90 to 404 ± 123 meters (p<0.001). Complications included 1 death, prolonged air leak in 7 cases and infection in 2. Quality of life improved substantially in 12 of the 16 cases; in 3 cases there was only slight improvement and in 1 the condition became worse. Volume reduction surgery is a promising surgical solution in selected patients with advanced emphysema.

Hyperbaric Oxygen for Carbon Monoxide Poisoning

A. Abramovich, A. Shupak, Y. Ramon, O. Shoshani, Y. Bentur, G. Bar-Josef, U. Taitelman

Israel Naval Medical Institute, Israel Defense Forces Medical Corps, Haifa and Israel Poison Information Center, Intensive Care Unit and Pediatric Intensive Care Unit, Rambam Medical Center, Haifa

Severe cases of carbon monoxide (CO) poisoning from all over Israel are treated at the Israel Naval Medical Institute with hyperbaric oxygen (HBO). Between 1.11.94 and 15.2.95, 24 cases of CO poisoning were treated. Poisoning was usually due to domestic gas-fired heating systems, CO being the only toxin involved. Since delay between termination of CO exposure and arrival at the emergency department averaged 55 minutes, the level of carboxyhemoglobin measured on presentation did not always reflect the true severity of the poisoning. Poisoning was defined as severe and requiring HBO treatment when 1 or more of the following indications was present: evidence of neurological involvement, cardiographic signs of acute ischemic injury, metabolic acidosis, carboxyhemoglobin level greater than 25%, and pregnancy. 20 (84%) recovered consciousness during the course of 1 session (90 min.) of HBO treatment (p2 2.8 ATA) or immediately thereafter, with resolution of other signs of CO poisoning. 3 required a second treatment session before their symptoms resolved. A patient who arrived in deep coma with severe cerebral edema died. HBO is an important element in the combined treatment of severe CO poisoning. There should be greater awareness of the danger of CO poisoning and the means of preventing it, both among medical staff and the population as a whole, mainly in areas in which cold weather requires use of heating systems, which may be gas-fired.

Prognostic Factors And Surgical Results In Traumatic Cataract

Yuval Gelfand, Joseph Pikkel, Benjamin Miller

Ophthalmology Dept., Rambam Medical Center and Bruce Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

The visual outcome in 23 men and 2 women with traumatic cataracts was analyzed retrospectively. Their average age was 33 and they ranged from 10 to 69 years. Surgical results were either very good or very poor. Associated retinal injuries significantly decreased final visual acuity (p = 0.001). Those with initial visual acuity restricted to finger counting had better visual results than those with initial visual acuity restricted to light perception (p = 0.01) and hand motions (p = 0.02). Usually the lens was removed via the pars plana; the most common mode of optical correction was contact lenses.

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.