Israel Medical Association Journal

Background: Laron Syndrome, first described in Israel, is a form of dwarfism similar to isolated growth hormone deficiency caused by molecular defects in the GH[1] receptor gene.

Objective: To characterize the molecular defects of the GH-R[2] in Laron syndrome patients followed in our clinic.

Methods: Of the 63 patients in the cohort, we investigated 31 patients and 32 relatives belonging to several ethnic origins. Molecular analysis of the GH-R gene was performed using the single strand conformation polymorphism and DNA sequencing techniques.

Results: Eleven molecular defects including a novel mutation were found. Twenty-two patients carried mutations in the extracellular domain, one in the transmembrane domain, and 3 siblings with typical Laron syndrome presented a normal GH-R. Of interest are, on one hand, different mutations within the same ethnic groups: W-15X and 5, 6 exon deletion in Jewish-Iraqis, and E180 splice and 5, 6 exon deletion in Jewish-Moroccans; and on the other hand, identical findings in patients from distinct regions: the 785-1 G to T mutation in an Israeli-Druze and a Peruvian patient. A polymorphism in exon 6, Gly168Gly, was found in 15 probands. One typical Laron patient from Greece was heterozygous for R43X in exon 4 and heterozygous for Gly168Gly. In addition, a novel mutation in exon 5: substitution of T to G replacing tyrosine 86 for aspartic acid (Y86D) is described.

Conclusions: This study demonstrates: a) an increased focal incidence of Laron syndrome in different ethnic groups from our area with a high incidence of consanguinity; and b) a relationship between molecular defects of the GH-R, ethnic group and geographic area.

Background: Adhesive capsulitis, also termed “frozen shoulder,” is controversial by definition and diagnostic criteria that are not sufficiently understood. The clinical course of this condition is considered as self-limiting and is divided into three clinical phases. Several treatment methods for adhesive capsulitis have been reported in the literature, none of which has proven superior to others.

Objectives: To evaluate the long-term follow-up of patients with idiopathic adhesive capsulitis who were treated conservatively.

Methods: We conducted a long-term follow-up (range 5.5–16 years, mean 9.2 years) of 54 patients suffering from idiopathic adhesive capsulitis. All patients were treated with physical therapy and non-steroidal anti-inflammatory drugs.

Results: An increased statistically significant improvement (P < 0.00001) was found between the first and last visits to the polyclinic in all measured movement directions: elevation and external and internal rotation.

Conclusions: Conservative treatment (physical therapy and NSAIDs[1]) is a good long-term treatment regimen for idiopathic adhesive capsulitis.

Mortality rates have been falling at all ages, even for very old cohorts, in most western countries as well as in Israel. The question remains open as to whether morbidity rates are also decreasing, especially for Israel’s elderly. While health is improving in almost all industrialized countries, the situation in Israel is not yet resolved. While the more recent cohorts of the young-old (65–74 years) are healthier than their predecessors, Israel’s old-old (75+) may still be lagging behind other countries with regard to improvements in health status. This phenomenon is not well understood but could be explained in part by the more severe formative experiences of many of Israel’s very elderly cohort.

Background: During ingestible capsule endoscopy, video images are recorded throughout the device's natural propulsion through the digestive system. Shortening the transit time of the wireless video capsule through the stomach and small bowel could reduce the time needed to read and analyze the resultant images, utilize more effectively the short life of the capsule battery (7 ± 1 hours) and make it possible to image the entire small bowel.

Objective: To measure gastric and small bowel transit times, with and without preparation, using capsule endoscopy.

Methods: Capsule transit times through the stomach, small bowel and colon were evaluated by analysis of the videos generated during the capsule's passage. The study group included 62 patients with small and large bowel pathologies (e.g., iron deficiency anemia, Crohn's disease). The patients were divided into three groups: prepared with polyethylene glycol (Group A, n = 9), prepared with sodium phosphate (Group B, n = 13), and with no preparation (Group C, n = 40).

Results: The gastric emptying times were 20.4 ± 15.2 minutes in group A, 55.7 ± 45.1 in group B, and 48.3 ± 28.7 in group C (P = 0.01). The capsule produced views of the cecum in only 49 of the 62 patients. The mean small bowel transit time for these 49 patients was 238.8 ± 82.1 minutes, making the mean times for the groups (A,B,C) 148.9 ± 32.6, 289.4 ± 77.2 and 249.3 ± 73.9 minutes respectively (P = 0.0001).

Conclusion: Compared to both SP[1] and no preparation, preparation of the colon with PEG[2] significantly shortened the transit time of the capsule through the stomach and small bowel.

Background: Transmission of Pseudomonas aeruginosa among cystic fibrosis patients attending health camps has been reported previously.

Objectives: To determine the transmission of P. aeruginosa among CF[1] patients during three winter camps in the Dead Sea region in southern Israel.

Methods: Three consecutive CF patient groups were studied, each of which spent 3 weeks at the camp. The patients were segragated prior to camp attendance: patients who were not colonized with P. aeruginosa constituted the first group and colonized patients made up the two additional groups. Sputum cultures were obtained upon arrival, at mid-camp and on the last day. Environmental cultures were also obtained. Patients were separated during social activities and were requested to avoid social mingling. Isolates were analyzed by antibiotics susceptibility profile and by pulsed field gel electrophoresis.

Results: Ninety isolates from 19 patients produced 28 different fingerprint patterns by PFGE[2]. Isolates from two siblings and two patients from the same clinic displayed the same fingerprint pattern. These patients were already colonized with these organisms upon arrival. Two couples were formed during the camp, but PFGE showed no transmission of organisms. All other patients' isolates displayed unique fingerprint patterns and were distinguishable from those of other attendees, and none of the P. aeruginosa-negative patients acquired P. aeruginosa during camp attendance. Environmental cultures were negative for P. aeruginosa.

Conclusions: We were unable to demonstrate cross-infection of P. aeruginosa among CF patients participating in health camps at the Dead Sea who were meticulously segregated.

Background: Prenatal care in Israel is established as a universal service, but the degree of compliance with care recommendations may vary with the healthcare provider or the characteristics of the population.

Objectives: To study referral to and compliance with the performance of ultrasound, alpha-fetoprotein and amniocentesis and the factors associated with them in a national sample. 

Methods: The sampling frame consisted of women who gave birth during March 2000. The sample included 1,100 Israeli Jewish and Arab women who resided in localities with over 50,000 and 20,000 inhabitants respectively. They were interviewed by phone 3 months after delivery. 

Results: In both population groups 30% reported having seven or more ultrasounds during pregnancy. The performance of fetal body scans was relatively low. Factors associated with non-performance among Jewish women were: lower education, religiousness, and attending Mother and Child Health services as compared to all other services. Seventy-seven percent of Jewish women and 84% of Arab women reported that they had been referred for alpha-protein tests. For women aged 35 and over, 55% of Jewish women were referred and 63% complied, whereas 39% of Arab women were referred but none complied.

Conclusions: Ultrasound is almost universally performed among Jewish and Arab women; however fetal body scans, alpha-fetoprotein and amniocentesis (for women over the age of 35) are not. The reasons for the lower coverage may be due to under-referral and/or lack of compliance of the women, perhaps due to sociocultural barriers. In both population groups considerable out-of-pocket money is paid for the tests.