Israel Medical Association Journal

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

Background: Childhood poisoning continues to challenge the diagnostic and treatment skills of the pediatrician. Generally, childhood poisoning can be attributed to suboptimal parental supervision and accessibility of products with poisoning potential.

Objective: To evaluate the pattern of acute poisoning in children with relation to different age groupings.

Methods: Pediatric patients hospitalized for acute poisoning at the Soroka Medical Center over a 5 year period (1994-98) were evaluated retrospectively. Special attention was given to poisoning in relation to age groupings.

Results: During the years 1994-98 a total of 1,143 children were admitted for acute poisoning to the Soroka Medical Center. The majority of cases occurred in children aged 2-5 and 14-18 years. Males under 14 had a higher frequency of poisoning, the poisoning usually being unintentional, whereas poisoning in females occurred mostly in the 14-18 age group and was intentional. Drugs were the most common agent of poisoning in infants (0-1 year), in older children (10-13 years), and in adolescents (14-18 years), while in children aged 2-5 and 6-9 years either cleaning products or drugs were the usual agents of poisoning. Most poisonings in children aged 2-13 occurred between 4 and 8 p.m., and for most adolescent patients (14-18 years old) between 4 p.m. and midnight. Poisoning in children aged 2-13 were usually due to accessible home products, and to medicinal errors such as overdose and improper drug administration.

Conclusions: This study defines the characteristic pattern of pediatric poisoning with respect to different age groups and gender. Unintentional childhood poisoning predominated in males and occurred mostly because of accessible home products and suboptimal parental supervision during critical hours of the day. Most adolescent poisoning occurred in females and was intentional. Parental education and intensified child supervision are indicated measures of prevention for unintentional poisoning.

Background: With smoking on the rise among teenagers, the United States has recently implemented anti-smoking legislation, though with questionable success.

Objectives: To examine the attitudes in Israel to such legislation.

Methods: An interviewer-administered questionnaire was completed by 505 adults: 217 undergoing general employment checkups and 288 amateur athletes requiring medical testing for certification. Smoking habits and attitudes toward anti-smoking legislation were examined.

Results: The overall rate of smoking was 25.3%, with a male:female ratio of 1:24 (P=0.232). Most smokers (65.6%) started smoking before the age of 20, and only 47.7% tried to quit at least once. Both the smokers and the non-smokers who were interviewed were in favor of legislation that recognized cigarettes as an addictive substance, restricted the sale of cigarettes to people aged 18 and older, and banned cigarette advertisements.

Conclusions: Anti-smoking legislation is looked upon favorably by Israelis, though the true benefit of such measures is questionable. Priority must be given to primary prevention through education and empowering youth to choose not to smoke.

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: 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

Background: Uterine rupture is a catastrophic obstetric complication, most often associated with a preexisting cesarean section scar. Although a vaginal birth after a cesarean is considered safe in modern obstetrics, it is not known whether repeated VBACs increase the risk of rupture, or whether the first VBAC proves the strength and durability of the scar, predicting further successful and less risky vaginal deliveries.

Objectives: To evaluate the effect of repeated vaginal deliveries on the risk of uterine rupture in women who have previously delivered by cesarean section.

Methods: In this retrospective study, 26 VBAC deliveries complicated by uterine rupture were matched for age, parity, and gravidity with 66 controls who achieved VBAC without rupture. The histories, demography, pregnancy, labor and delivery records, as well as neonatal outcome were compared.

Results: We found that the risk of rupture decreases dramatically in subsequent VBACs. Of the 40 cases of uterine rupture recorded during the 18 year study period, 26 occurred during VBAC deliveries. Of these, 21 were complicated first VBACs. We also found that the use of prostaglandin-estradiol, instrumental deliveries, and oxytocin had been used significantly more often during deliveries complicated with rupture than in VBAC controls.

Conclusions: Once a woman has achieved VBAC the risk of rupture falls dramatically. The use of oxytocin, PGE2 and instrumental deliveries are additional risk factors for rupture, therefore caution should be exerted regarding their application in the presence of a uterine scar, particularly in the first vaginal birth after cesarean.

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VBAC= vaginal birth after cesarean section

PGE2= prostaglandin-estradiol

Objective: To report a unique hereditary, juvenile onset, craniocervical predominant, generalized dystonia and parkinsonism affecting four members of one family.

Family Description: A father and three of his four daughters presented to us over the past 30 years with a similar picture of generalized dystonia, starting in the craniocervical region in the second or third decade of life. They later developed moderate parkinsonism, mainly manifesting bradykinesia, rigidity and abnormal postural reflexes. Biochemical and genetic tests excluded Wilson's disease, Huntington's disease and Oppenheim's dystonia.

Conclusion: This is a new type of familial dystonia-parkinsonism where the craniocervical dystonic symptoms are most prominent in the early stages while parkinsonism becomes the predominant problem later in life. A search for the genetic mutation in this family is underway.