Israel Medical Association Journal

Background: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.

Objective: To measure bone density in two siblings with the OPPG[1] syndrome as well as in their family members (parents and siblings).

Methods: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (>95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry.

Results: The studies revealed osteoporotic changes both in the patients and the carriers.

Conclusion: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.

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Background: Cystinuria is an autosomal recessive disease that is manifested by the development of kidney stones. Mutations in SLC3A1 cause type I disease, while mutations in SLC7A9 are associated with non-type I disease. In Israel cystinuria is especially common among Libyan Jews who suffer from non-type I disease.

Objectives: To compare clinical manifestations of patients with mutations in SLC3A1 to those with mutations in SLC7A9, and to assess the carrier rate among unaffected Libyan Jewish controls.

Methods: Clinical manifestations were evaluated in patients with mutations in SLC3A1 and in patients with mutations in SLC7A9. Carrier rates for two SLC7A9 mutations were assessed in 287 unaffected Libyan Jewish controls.

Results: Twelve patients with mutations in SLC3A1 were compared to 15 patients with mutations in SLC7A9. No differences were detected between the patients with mutations in SLC3A1 and those with mutations in SLC7A9 in relation to the age of disease onset, the estimated number of stones, the number of invasive procedures, the number of patients receiving drug therapy, or the patients’ urinary pH. Eleven of the unaffected Libyan Jewish controls were found heterozygotes for the V170M mutation, establishing a carrier rate of 1:25. The 1584+3 del AAGT mutation was not found in any of the Libyan Jewish controls.

Conclusion: Mutations in SLC3A1 and SLC7A9 cystinuria patients result in indistinguishable disease manifestations. The high carrier rate among Libyan Jews is a result of a single missense mutation, V170M.
 

Background: With the aging of the population and the increase in the number of elderly patients under the care of primary care physicians in the community, it is essential that the physician be aware of the preventive medicine recommendations for this group of patients. Accepted evidence-based guidelines have been developed for the older patient and adherence to these guidelines may play a significant role in decreasing morbidity and mortality in the elderly.

Objectives: To determine whether elderly patients in community clinics are aware of the preventive medicine practices that are relevant and available to them, and to assess which factors influence their decision to use such interventions. Of particular interest was to evaluate the role of the doctor-patient relationship on the degree of patient compliance with preventive procedures.

Methods: Patients attending community clinics of the Clalit Health Services in Jerusalem were interviewed. Background information was obtained and the patients were questioned regarding the use of the following preventive medicine recommendations: screening for occult blood in the stool, testing of vision and hearing, influenza and pneumococcal immunization, thyroid-stimulating hormone testing, digital rectal examination for prostate cancer, and calcium supplementation. The patients were questioned regarding the use of aspirin or oral anticoagulation where relevant. Factors influencing their level of compliance were examined.

Results: The study group comprised 205 patients with an average age of 74.5 years. Overall the rates of compliance were high, with 78% undergoing visual assessment, 87% fecal occult blood testing, and 81% influenza immunization. Pneumococcal immunization had been administered to 49% of those interviewed and 56% had their hearing tested. Digital rectal examination had been performed in 45% of patients. Calcium supplementation was used in 60% of patients. Almost all the patients (91–100%) noted that the physician had initiated the procedure and that non-compliance was due to patient preferences. Of the 172 patients who were assumed to benefit from aspirin use, 153 (89%) used the medication, and 87% of 23 patients with atrial fibrillation were on chronic anticoagulation.

Conclusions: A high level of compliance with preventive medicine recommendations was found among this group of elderly patients. The doctor-patient relationship had a positive effect on the patients' compliance.
 

Micronutrient deficiencies have reoccupied the center stage of public health policy with the realization that folic acid deficiency results in neural tube defects and possibly other birth defects as well as ischemic heart disease. These, in turn, have raised an older debate on food fortification policy for the elimination of iodine, iron and vitamin D deficiencies. Data from the First Israeli National Health and Nutrition Survey (MABAT 2000) provided an impetus to develop an active national nutrition policy aimed to improve the nutritional status of iodine, iron, vitamins A and D and B-vitamins, including folate. In this paper we examine some of the MND[1] issues in Israel and their implications for public health, and suggest options for the formulation of policy.

Background: Chronic nicotine administration has a dual effect on inflammatory bowel disease: augmentation of jejunitis and amelioration of colitis. We previously showed that chronic nicotine administration has divergent regional effects on small bowel and colonic mucosal mediators and blood flow.

Objective: To examine the effects of nicotine administration on cytokine levels in normal rat small bowel mucosa, colonic mucosa, and blood.

Methods: Male Sprague-Dawley rats weighing 200–250 g were given nicotine (12.5 μg/ml) that was dissolved in tap water. Rats were sacrificed on days 1, 2, 7 and 14 after nicotine initiation; blood was withdrawn, and small bowel and colon were resected, washed and weighed. Mucosal scrapings were extracted in 2 ml Krebs-Hemselest buffer for determination of interleukins-2, 6 and 10 using the Biosource International Immunoassay Kit.

Results: Nicotine decreased IL-10[1] and increased IL-6 levels in small bowel mucosa (from 3.5 ±  0.5 to 0.4 ± 0.1 pg/ml and from 1.9±0.4 to 13.6±0.4 pg/ml respectively; P < 0.05). Nicotine decreased IL-2 levels in the colon (from 15.8±3.0 to 7.9±1.0 pg/ml; P < 0.05), having no effect on IL-10 or IL-6 levels. Rats treated with nicotine had lower IL-6 and IL-2 blood levels compared to control rats.

Conclusions: Nicotine has different regional effects on small bowel and colonic cytokine mucosal levels, which might explain some of its opposite effects on small bowel and colonic inflammation.

Background: Current clinical guidelines restrict catheterization laboratory activity without on-site surgical backup. Recent improvements in technical equipment and pharmacologic adjunctive therapy increase the safety margins of diagnostic and therapeutic cardiac catheterization.

Objective: To analyze the reasons for urgent cardiac surgery and mortality in the different phases of our laboratory’s activity in the last 11 years, and examine the impact of the new interventional and therapeutic modalities on the current need for on-site cardiac surgical backup.

Methods: We retrospectively reviewed the mortality and need for urgent cardiac surgery (up to 12 hours post-catheterization) through five phases of our laboratory’s activity: a) diagnostic (years 1989–2000), b) valvuloplasties and other non-coronary interventions (1990–2000), c) percutaneous-only balloon angioplasty (1992–1994), d) coronary stenting (1994–2000), and e) use of IIb/IIIa antagonists and thienopiridine drugs (1996–2000).

Results: Forty-eight patients (0.45%) required urgent cardiac surgery during phase 1, of whom 40 (83%) had acute coronary syndromes with left main coronary artery stenosis or the equivalent, and 8 (17%) had mechanical complications of acute myocardial infarction. Two patients died (0.02%) during diagnostic procedures. In phase 2, eight patients (2.9%) were referred for urgent cardiac surgery due to either cardiac tamponade or severe mitral regurgitation, and two patients (0.7%) died. The combined need for urgent surgery and mortality was significantly lower in phase 4 plus 5 as compared to phase 3 (3% vs. 0.85%, P = 0.006).

Conclusion: In the current era using coronary stents and potent antithrombotic drugs, after gaining experience and crossing the learning curve limits, complex cardiac therapeutic interventions can safely be performed without on-site surgical backup.
 

Background: Developments in laparoscopic surgery have rendered it an efficient tool for many complex surgical procedures. In the last few years, laparoscopic adrenalectomy has become a more viable option for removal of adrenal pathology, with many surgeons preferring it to the conventional open technique.

Objectives: To describe the indications, technique, complications and follow-up of patients undergoing laparoscopic adrenalectomy in our department.

Methods: The hospital files of 30 patients who underwent the procedure were reviewed. There were 19 females and 11 males with a mean age of 45 years. Indications for surgery differed and included hypersecreting adenoma, pheochromocytoma, suspected malignancy, and incidentaloma.

Results: Of the 31 laparoscopic adrenalectomies performed, 11 were right, 18 were left, and 1 was bilateral. The conversion rate to an open procedure was 3%. The mean duration of procedure was 120 minutes. Only one patient required blood transfusion. Complications occurred in 20% of patients, all reversible. There was no mortality. Mean hospitalization duration was 3.4 days, and median follow-up 17 months. There were no late complications. All patients operated on for benign diseases are alive.

Conclusions: Laparoscopic adrenalectomy appears to be a useful tool for the treatment of a range of adrenal pathologies.

Background: Damage to the intervertebral disk is usually corrected by means of a prosthesis.

Objectives: To report the outcome of the artificial lumbar disk replacement with the Charité SB III disk prosthesis in 20 patients after a 48 month follow-up.

Methods: The 20 patients were evaluated clinically and radiographically during this period. Preoperative diagnosis included degenerative diskopathy in 17 patients and failed posterior conventional diskectomy in 3. The prosthesis was implanted at one level in 17 patients and bi-level implantation was performed in the other 3 patients.

Results: Eighty percent of patients reported satisfactory to very good results. Poor results were reported by four patients, one of whom underwent posterolateral fusion and another is waiting for the same operation. There were two dislocations of the prosthesis followed by immediate revision surgery.

Conclusions: Contraindications for surgery appear to be the principal cause of failure rather than the prosthesis itself.
 

During September 2002, Israel began its current revaccination program against smallpox, targeting previously vaccinated “first responders” among medical and emergency workers. In order to identify the potential strengths and weaknesses of this program and the conditions under which critical decisions were reached, we conducted a SWOT analysis of the current Israeli revaccination program, designed to identify its intrinsic strengths and weaknesses, as well as opportunities for its success and threats against it. SWOT analysis – a practical tool for the study of public health policy decisions and the social and political contexts in which they are reached - revealed clear and substantial strengths and weaknesses of the current smallpox revaccination program, intrinsic to the vaccine itself. A number of threats were identified that may jeopardize the success of the current program, chief among them the appearance of severe complications of vaccination. Our finding of a lack of a generation of knowledge on smallpox vaccination urgently calls for improved physician education and dissipation of misconceptions that are prevalent in the public today.