Edna Ben-Asher, PhD, Vered Chalifa-Caspi, PhD, Shirley Horn-Saban, PhD, Nili Avidan, PhD, Zviya Olender, PhD, Avital Adato, PhD, Gustavo Glusman, Marilyn Safran, Menachem Rubinstein, PhD and Doron Lancet, PhD
Joel Zlotogora, MD, PhD and Alex Leventhal, MD, MPH
The screening program in Israel for Tay-Sachs disease has proven very successful, giving Jewish couples a choice not to have affected children. The technology of carrier detection is now possible in several other severe genetic diseases that are relatively frequent among Jews. Due to the current confusion, a policy is needed to determine how the TSD screening program should be continued in the Israeli Jewish population. We propose that such a screening program include only mutations agreed by consensus as causing a disease severe enough to warrant the possibility of therapeutic abortion. We also propose that general screening include only mutations that are relatively frequent, taking into account the carrier frequencies in the Israeli Jewish population.
Paul Froom, MD, Estela Kristal-Boneh, PhD, Samuel Melamed, PhD, Gil Harari, MSc, Jochanan Benbassat, MD and Joseph Ribak, MD, MPH
Background: The degree to which serum total cholesterol predicts cariovascular disease is uncertain. While most authors have placed TC among the most powerful risk indicators of CVD, some have claimed that it predicted CVD in women only, or even not at all.
Objective: To determine the predictive value of serum total cholesterol relative to diabetes, smoking, systolic blood pressure and body mass index (kg/m2), for cardiovascular disease mortality in 3,461 occupationally active Israeli males.
Methods: A prospective follow-up was carried out for the years 1987-1998 to determine the effect of age, smoking habits, a history of diabetes, SBP, BMI and TC, at entry, on CVD mortality.
Results: There were 84 CVD deaths during a total of 37,174 person-years follow up. The hazard ratios (95% confidence intervals) for CVD mortality with respect to variables at entry were: diabetes 5.2 (2.1-13.2), age 2.2 (1.7-2.9), smoking 1.3 (1.0-1.8), SBP 1.4 (1.1-2.0), TC 1.5 (1.0-2.1) and BMI 1.2 (0.7-2.2). Among non-obese, non-diabetic, normotensive subjects the hazard ratio of TC adjusted for age and smoking was 1.16 (1.09-1.22) per 10 mg/dl. In the remaining subjects it was 1.04 (0.98-1.12) only. There was a significant interaction between TC and diabetes, hypertension or obesity (P=0.003).
Conclusions: In this population of Israeli males we found an interaction between TC and other risk indicators for CVD. Confirmation is required for the unexpected finding that the predictive value of TC for CVD mortality among non-diabetic, non-obese and normotensive subjects exceeded that among subjects with either of these risk factors.
Arnon Broides MD, Shaul Sofer MD and Joseph Press MD
Background: The outcome of cardiopulmonary arrest in children is poor, with many survivors suffering from severe neurological defects. There are few data on the survival rate following cardiopulmonary arrest in children who arrived at the emergency room without a palpable pulse.
Objective: To determine the survival rate and epidemiology of cardiopulmonary arrest in children who arrived without a palpable pulse at a pediatric ER in southern Israel.
Methods: We retrospectively reviewed the medical records of all patients with cardiopulmonary arrest who arrived at the ER of the Soroka University Medical Center during the period January 1995 to June 1997.
Results: The study group included 35 patients. Resuscitation efforts were attempted on 20, but the remaining 15 showed signs of death and were not resuscitated. None of the patients survived, although one patient survived the resuscitation but succumbed a few hours later. The statistics show that more cardiopulmonary arrests occurred among Bedouins than among Jews (32 vs. 3, P0.0001).
Conclusions: The probability of survival from cardiopulmonary arrest in children who arrive at the emergency room without palpable pulse is extremely low. Bedouin children have a much higher risk of suffering from out-of-hospital cardiopulmonary arrest than Jewish children.
Channa Maayan, MD, Onit Sela, MD, Felicia Axelrod, MD, D'vorah Kidron, MD and Drorith Hochner-Celnikier, MD
Background: Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system.
Objective: To study the inter-relationship of autonomic and sensory dysfunction and gynecological function.
Methods: The gynecological histories of 48 women with familial dysautonomia were analyzed retrospectively. Their mean age was 22.25 years (range 12-47). Thirty-three women (65%) were available for further questioning and investigation of hormonal status.
Results: Menarche had occurred in 32 of the 48 (66.7%). Their average age of menarche was significantly delayed as compared to their unaffected mothers (15.5 vs. 13.6 years respectively, P=0.002). The most prominent finding was the very high prevalence, 81.2%, of premenstrual symptoms. Seven of 26 had premenstrual syndrome symptoms of dysautonomic crisis. Blood sex hormone levels were normal in 27 of the 33 patients studied. None reached natural menopause. One patient had adenomyosis, and another, dysgerminoma. Three patients became pregnant and delivered healthy infants.
Conclusion: Menarche is delayed in women with FD, and the physiological monthly hormonal fluctuations may disturb autonomic homeostasis sufficiently to precipitate dysautonomic crisis.