Israel Medical Association Journal

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.

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.

Background: General pediatricians in Israel are actively involved in the initial evaluation, resuscitation and management of traumatized children. However, pediatric trauma care is not a part of pediatric specialty training in Israel, and the few Advanced Trauma Life Support^R courses per year are insufficient for most pediatricians working in accident and emergency care.

Objective: To examine the value of the course in relation to the limited resources available for such training.

Methods: A telephone survey of 115 pediatricians who had taken the course between 1990 and 1994 was conducted. The responding physicians (67%) were asked to complete a specially designed questionnaire on life-saving procedures that were taught in the course. In addition, they were asked to subjectively assess the practical utility of the course.

Results: Forty-three (56%) pediatricians reported that they routinely treated both adult and pediatric trauma cases. Of these, 81% performed 27 life-saving ATLS^R procedures. Pediatric trauma was treated by only 22 (28%), of whom 72.3% performed 18 life-saving ATLS^R procedures. These pediatricians ranked the courses as being "very high" to "high" in impact.

Conclusions: These figures indicate that an ATLS^R course designed specifically for pediatricians can markedly improve pediatric trauma care. To ensure standard education and patient care, such a course should be developed and made a mandatory component of residency training. Further studies to examine the objective impact of the courses on pediatric trauma care should be carried out.

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ATLS= Advanced Trauma Life Support

Background: Israeli physicians are very familiar with the problem of interruptions during encounters with patients. However, a thorough search of the medical literature revealed only one report of this problem from Israel, and none from other countries.

Objectives: To characterize the phenomenon of interruptions to the patient-physician encounter in a clinic in Dimona and to assess the effect of an intervention program designed to reduce the magnitude of this problem.

Methods: During an 8 day work period in March 1997 all patient-physician encounters were recorded and characterized. An intervention program was then designed and implemented to reduce the number of interruptions. Data were again collected a year after the initial data collection.

Results: During the 8 day study period prior to the intervention program there were 528 interruptions to 379 encounters (mean of 1.39 per encounter). The main causes of interruptions were entrance of uninvited patients to the examination room (31%) and telephone calls (27%). Most of the interruptions occurred during the morning hours between 8 and 10 a.m. (45%) and at the beginning of the week (Sunday 30%). After the intervention program there were 402 interruptions to 355 encounters (mean of 1.13 per appointment, P=0.21).

Conclusions: There was no statistically significant improvement in the number of interruptions following the intervention program. This finding is either the result of a local cultural phenomenon, or it indicates a national primary care health system problem that may require a long-term educational program to resolve it. Further research is needed on the magnitude, causes and consequences of interruptions in family practice and, if warranted, methods will have to devised to cope with this serious problem.