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עמוד בית
Fri, 22.11.24

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August 2000
Tzipora C. Falik-Zaccai MD, Elena Shachak MSc, Devora Abeliovitch PhD, Israela Lerer MSc, Ruth Shefer MD, Rivka Carmi MD, Liat Ries MSc, Moshe Friedman MD, Mordechai Shohat MD and Zvi Borochowitz MD

Background: Achondroplasia is the most frequent form of disproportionate short stature, characterized by rhizomelic shortening of the limbs. This disorder is inherited as an autosomal dominant trait, although most of the cases are sporadic, a result of a de novo mutation. A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations. This is most uncommon in other autosomal dominant genetic diseases.

Objectives: To determine whether this mutation is also common among Jewish patients from diverse ethnic groups and among the Arab population in Israel.

Methods: We examined the G380R mutation (G>A and G>C transition) and the mutation G375C (G>T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia.

Results: We found the G>A transition at codon 380 in 30 of our patients and the G>C transition in one patient. We were not able to detect any of the three mutations in two patients with an atypical form of achondroplasia.

Conclusions: Our results further support the unusual observation that nucleotide 1138 of the FGFR3 gene is the most mutable nucleotide discovered to date across different populations.

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FGFR3 = fibroblast growth factor receptor 3

Sigal Sviri, MD, Mordechai Muszkat, MD, Michael Y. Shapira, MD, David Gross, MD and David M. Linton, MD
Deborah C. Segal, MD, Oded Vofsi, MD and Yeshayahu Katz, MD, DSc
Shlomi Codish, MD, Mahmoud Abu-Shakra, MD, Roman Depsames, MD, Neta Sion-Vardy, MD, Dan Benharroch, MD and Shaul Sukenik, MD
July 2000
Amalia Levy PhD, Victor Diomin MD, Jacob Gopas PhD, Samuel Ariad MD, Martin Sacks MB ChB FRCPath and Daniel Benharroch MD

Background: A previous study on Hodgkin's lymphoma in southern Israel found that Bedouin patients had an increased rate of Epstein-Barr virus expression in their tumor cells.

Objectives: To determine the influence of the patients' communities on the pattern of disease in HL.

Methods: We compared the clinical features, demographic data, stage at diagnosis, treatment modality and outcome, as well as laboratory findings, in four community-based subgroups. These groups comprised kibbutz residents (n=11), Bedouin (n=19), new immigrants from the former USSR (n=22), and town-dwellers (n=82).

Results: The Bedouin patients differed significantly from the new immigrants and town-dwellers, particularly regarding the rate of EBV sequences in the tumor tissues, and a poorer response to treatment. The kibbutz patients did not differ significantly from the other populations regarding most of the parameters studied, but showed an intermediate expression of EBV antigens compared to Bedouin patients and the rest of the cohort.

Conclusions: This study indicates that HL may behave differently in different population groups in a given geographic area. Notably, the Bedouin patients showed markedly different clinical and biological patterns of this malignancy. 

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HL= Hodgkin's lymphoma

EBV= Epstein-Barr virus

Yehuda L. Danon MD and Esther Saiag MD

Background: Over the last 5 years Israel has implemented a nationwide health insurance plan covering the entire population of the country. We have developed a clinical information system based on electronic-chip health care medical smart cards. Health care cards are used in several European countries and chip smart cards have been successful in many sectors. Our project involves the community use of the MSC, thereby enabling health care professionals to skillfully employ card systems in the health care sector. This system can easily arrange electronic medical charts in clinics, facilitating the confidential sharing of personal health databases among health professionals.

Objectives: To develop an MSC applicable for daily use in the community and hospital system.

Results and Conclusions: The MSC project, currently underway in Israel and the USA, will aid in determining the costs, benefits and feasibility of the MSC. Successful implementation of the MSC in chosen clinics will promote a nationwide willingness to adopt this promising technology.

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MSC= medical smart card

Ron Ben-Abraham MD, Avi A. Weinbroum MD, Yoram Kluger MD, Michael Stein MD, Zohar Barzilay MD FCCM and Gideon Paret MD

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 SupportR 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 ATLSR procedures. Pediatric trauma was treated by only 22 (28%), of whom 72.3% performed 18 life-saving ATLSR procedures. These pediatricians ranked the courses as being "very high" to "high" in impact.

Conclusions: These figures indicate that an ATLSR 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

Richard Nakache MD, Avi Weinbroum MD, Hadar Merhav MD, Eli Kaplan MD, Yehuda Kariv MD, Wessam Khoury MD, Mordechai Gutman MD and Joseph M. lausner MD

Background: In simultaneous pancreas-kidney transplantation, with both organs coming from the same donor, the addition of a pancreas to the kidney transplant does not jeopardize the kidney allograft outcome despite higher postoperative SPK morbidity. Pancreas allograft outcome has recently improved due to better organ selection and more accurate surgical techniques.

Objective: To demonstrate the positive impact of SPK on kidney allograft outcome versus kidney transplantation alone in insulin-dependent diabetes mellitus patients with end-stage renal failure.

Methods: We performed 39 consecutive SPKs in 14 female and 25 male IDDM patients with renal failure after an average waiting time of 9 months. Multi-organ donor age was 30 years (range 12-53). The kidneys were transplanted in the left retroperitoneal iliac fossa following completion of the pancreas transplantation; kidney cold ischemia time was 16±4 hours. Induction anti-rejection therapy was achieved with polyclonal antithymocytic globulin and methylprednisolone, and maintenance immunosuppression by triple drug therapy (prednisone, cyclosporine or tacrolimus, and azathioprine or mycophenolate mofetil). Infection and rejection were closely monitored.

Results: All kidney allografts produced immediate urinary output following SPK. Two renal grafts had mild function impairment due to acute tubular damage but recovered after a short delay. Three patients died from myocardial infarction, cerebrovascular event and abdominal sepsis on days 1, 32 and 45 respectively (1 year patient survival 92%). An additional kidney allograft was lost due to a renal artery pseudo-aneurysm requiring nephrectomy on day 26. Nineteen patients (49%) had an early rejection of the kidney that was resistant to pulse-steroid therapy in 6. No kidney graft was lost due to rejection. Patients with acute kidney-pancreas rejection episodes suffered from severe infection, which was the main cause of morbidity with a 55% re-admission rate. Complications of the pancreas allograft included graft pancreatitis and sepsis, leading to a poor kidney outcome with sub-optimal kidney function at 1 year. Kidney graft survival at one year was 89% or 95% after censoring the data for patients who died with functioning grafts.

Conclusions: Eligible IDDM patients with advanced diabetic nephropathy should choose SPK over kidney transplantation alone from either a cadaver or a living source.

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SPK= simutaneous pancreas-kidney transplatation

IDDM= insulin-dependent diabetes mellitus

Roni Peleg MD, Meron Froimovici MD, Aya Peleg PhD, Vered Milrad BA, Georgette Ohana BA, Shimon Fitoussi, Eli Dryfuss MA, Michael Sharf MD MPH and Pesach Shvartzman MD

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.

Miguel Iuchtman MD, Ricardo Alfici MD, Ehud Sternberg MD, Leonid Trost MD and Menachem Litmanovitch MD

Background: Trauma is the leading cause of death in children. In abdominal lesions the spleen is the most commonly involved organ. During the last two decades much effort has focused on spleen tissue conservation.

Objectives: To analyze the rationale of a multimodality management policy that includes autotransfusion and mesh wrapping.

Methods: Data gathered over 14 years illustrate the introduction of new techniques and their impact on cases of severe spleen rupture.

Results: A total of 122 children were treated during the 14 year period, 1985-98. In 16 children an absorbable mesh wrapping, alone or in combination with other techniques, was used to obtain hemostatis and save spleen tissue.

Conclusions: Mesh wrapping, partial splenectomy and autotransfusion can be used, alone or in combination, to preserve severely injured spleens. According to our records, all children survived with a functional spleen. There were no cases of rebleeding. In only one case of prolonged postoperative fever could the cause be traced to an infected spleen hematoma that was drained transcutaneously. Autotransfusion is performed simply and without the use of a "cell saver." Its use can be crucial in small or field hospitals or in a situation of mass casualty.

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