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.

Is Crohn's Disease Different In The Elderly?

Itzhak Pappo, Oded Zamir, Herbert R. Freund

Dept. of Surgery, Hadassah-University Hospital, Mount Scopus, Jerusalem

We reviewed the records of 22 patients hospitalized at onset or first presentation of Crohn's disease after age 50. There were 12 females and 10 males, and the mean age was 64.5 years. The most common presenting symptoms were: abdominal pain, fever, diarrhea and weight loss. The disease was located in the small bowel in 14, in the ileo-colic region in 3 and in the colon in 5. The median interval from onset of symptoms until diagnosis was 42 months. 12 (54%) underwent surgery. All 5 patients with colonic disease were operated. 6 patients underwent small bowel resections, mostly terminal ileum, while 1 had resection of both terminal ileum and left colon. The recurrence rate was 70% in the medically treated and 50% in those operated. 1 patient died after surgery for Crohn's disease (4.5%), and 3 others died of unrelated causes. Compared to younger patients, the symptomatology, clinical course, need for and response to surgery, and its complications, did not differ in these older patients, but the recurrence rate seemed to be higher.

Acute Effusive Constrictive Pericarditis in Influenza A

N. Reichman, N. Kaufman, E. Flatau

Dept. of Medicine B, Central Emek Hospital, Afula and Technion Faculty of Medicine, Haifa

Constrictive pericarditis may complicate the course of several viral infections, mainly Coxsackie virus group B, as well as in rheumatoid disease, radiation and neoplasm. Perimyocardial involvement during influenzal infections is usually mild and does not progress to constriction or tamponade. A single case of cardiac tamponade caused by influenza A was reported in 1986. We report a case of acute effusive-constrictive pericarditis due to influenza A infection. Corticosteroids resulted in some benefit, but did not relieve constriction, which required extensive pericardiectomy.

Kapoera - Popular Dance or Martial Art?

Y. Kluger, A. Ravid, R. Ben Avraham, D. Soffer, D. Aladgem

Depts. of Surgery B and C, and Division of Trauma, Tel Aviv Medical Center, Tel Aviv

Kapoera, a combination of acrobatics and coordinated athletic movement, is believed to have been introduced to South America during the 19th century by transported African slaves. The dance does not involve intentional physical contact, but during 6 months, 3 patients were admitted here for injuries induced by the forceful movements of this dance. 2 underwent exploratory laparotomy that revealed bowel perforations and 1 suffered a comminuted nasal bone fracture. Medical personnel should be familiar with the potential hazards of this dance and martial art.