תוצאת חיפוש

Oncogenetic Counseling and Genetic Testing of Those at High Risk for Breast and Ovarian Cancer

Livia Theodor, Ronit Shiri-Sverdlov, Galit Hirsch Yechezkel, Revital Bruchim Bar-Sade, Eva Gak, Irit Friedman, Anna Kruglikova, Gilad Ben-Baruch, Shulamit Risel, Moshe Z. Papa, Boleslav Goldman, Eitan Friedman

Oncogenetics Unit, Dept. of Clinical Epidemiology, Institute of Genetics, and Gynecology, Oncology, and Surgical Depts., Chaim Sheba Medical Center, Tel Hashomer

There is inherited predisposition to breast and ovarian cancer in 5-10% of all women with these diseases. Germline mutations in BRCA1 and BRCA2 presumably account for most of the genetically susceptible individuals. We summarize 2 years of experience in counseling and testing for inherited predisposition to these cancers.

597 women (from 320 families) have been evaluated since August 1995. 242 were evaluated for inherited predisposition to breast and ovarian cancer. One-third had clear-cut evidence of familial background. 74 families were of Ashkenazi origin; the age range of breast cancer was 30-35, of ovarian cancer 40-45. In 80% of families other cancers were also noted in first degree family members, including lung, colon, and prostate cancer and leukemia.

Genetic testing revealed that 45% of affected and 25% of unaffected women were carriers of a mutation in BRCA1 or BRCA2: 67/90 185delAG (BRCA1), 12/90 6174delT (BRCA2), and 4/90 of 5382insC (BRCA1). In addition, a novel mutation in exon 11 of BRCA1 was detected, carried by 7/90 women. The experience gained in oncogenetic counseling and genetic testing for inherited cancer predisposition will eventually enable determining an optimal, rational therapeutic regimen in carriers of mutations.

Primary Care Physicians in Israel Compared with European Countries

P. Shvartzman, R. Gross, H. Tabenkin, D. Yuval, M. Grinshtein, B. Wienka

Dept. of Family Medicine, Ben-Gurion University of the Negev, Beer Sheba;

Brookdale Institute, Jerusalem; and Nivel Institute, Maastricht, the Netherlands

This study compares Israeli primary care physicians with those of European countries. In Israel a larger proportion of those in primary care are women. The Israeli physicians see many patients a day, but almost never make home visits. They also report for work the fewest hours a day, but spend 21 hours a month in continuous medical education. (more than Europeans?) The Israeli primary care physician scores high in screening for breast cancer and blood cholesterol level, but very low in the fields of minor surgery and alcohol and smoking prevention, contraception, nutrition counseling and normal pregnancy follow-up. Residency training and education may be inadequate, and more emphasis has to be put on the health system and recognizing environmental influences.

Are Testes in Oligo/Azoospermia Homogenous or Heterogenous?

David B. Weiss, Shoshana Gottschalk-Sabag, Elchanan Bar-On, Zvi Zukerman

Kupat Cholim Meuhedet, Jerusalem; Male Infertility and Cytology Units, Shaare Zedek Medical Center, Jerusalem; and Andrology Unit, Rabin (Beilinson) Medical Center, Petah Tikva

We determined whether a single testicular specimen is sufficient to represent qualitatively the spermatogenic process within the testes of azoospermic or severely oligospermic infertile men. In 191 testes of azoospermic patients and in 26 of those with severe oligospermia, fine needle aspirations at 3 different sites of each testis were performed. Aspirated material from each puncture was stained and in each smear all spermatogenic cells, as well as Sertoli cells, were identified. Testes were classified according to the most mature spermatogenic cell type present, or the presence of only Sertoli cells. The homogeneity of the testicular spermatogenic process was then evaluated. There was an overall intratesticular difference between aspirates in 14.1% of azoospermic testes and in 26.9% of severely oligospermic testes with regard to the most mature spermatogenic cell type. When spermatozoa were the most mature cell type, they were detected in all of the 3 aspirates in 71.4% of the testes. In 18.4% or 10.2% of this group of testes they were retrieved in only 1 or 2 of the aspirates, respectively. In testes in which spermatids or spermatocytes were the most mature spermatogenic stage, these cell types were detected in all 3 aspirates in only 36.4% and 68.0%, respectively. In azoospermic patients with full testicular spermatogenesis, the likelihood of retrieving spermatozoa from the testes was 84.3%, 92.7% and 100% in 1, 2 and 3 specimens, respectively. The following conclusions were drawn: There is a wide range of testicular heterogeneity in azoospermia or very severe oligospermia for diagnosing the testicular spermatogenic pattern. In azoospermia, specimens from several testicular sites are required. It is strongly recommended that no assisted fertilization be offered to azoospermic patients unless prior evaluation of the spermatogenic pattern in the seminiferous tubules is determined.

Patients' Opinions of the Role of Primary Care Physicians and the Organization of Health Care Services

Revital Gross, Hava Tabenkin, Shuli Bramli, Pesach Schvartzman

JDC-Brookdale Institute, Jerusalem; Dept. of Family Medicine, HaEmek Hospital, Afula; Kupat Holim Clalit, Northern District; Institute for Specialization, Ben-Gurion University, Northern Branch; and Dept. of Family Medicine, Ben-Gurion University of the Negev and Kupat Holim Clalit, Beer Sheba

Patients' opinions of the role of the primary care physician were studied. The study population consisted of Hebrew-speaking members of the Clalit Sick Fund, aged 18+, who visited primary care and specialty clinics. Interviews took place during January-March 1995 in the Emek and Jerusalem, and during August-October 1995 in Beer Sheba. A total of 2,734 interviews were conducted, and the response rate was 88%. 64% of the respondents preferred the primary care physician as the first address for most problems occurring during the day. Multivariate analysis revealed that the variables predicting this preference were: being over age 45, having completed less than 12 years of schooling, being satisfied with the physician, and when a child's illness was involved. Whether the physician was a specialist had only a marginal effect. The findings also show that among those who did go directly to a specialist for the current visit, 49% would still prefer the primary care physician to be the first address for most problems. However, half of the respondents initiated the current visit to the specialty clinic themselves. The findings also showed that a preference for the primary care physician to be the first address had an independent and statistically significant effect on the following aspects of service consumption: taking the initiative to go to a specialist, the intention to return to the primary care physician or to the specialist for continuing care, and the patient's belief that referral to a specialist was needed. The findings of the study may be of assistance to policy-makers on the national level and to sick funds in planning the role of the primary care physician, so that it corresponds, on the one hand, to the needs of the sick funds and the economic constraints in the health system, and on the other, to the preferences of the patient.

Distraction Osteogenesis for Hypoplastic Facial Bones

Adi Rachmiel, Dina Lewinson, Dror Eizenbud, Daren Rosen, Dov Laufer

Dept. of Oral and Maxillofacial Surgery, and Orthodontics and Cleft Palate Unit, Rambam Medical Center; and Division of Morphological Sciences, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

Distraction osteogenesis is a well-known method for bone lengthening which stretches callus to generate new bone in the distracted area. The method was developed by Ilizarov for the lengthening of long enchondral bones. In recent years the method has also been applied to the facial bones and to the jaw.

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.