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: Prone sleeping has been recognized as a risk factor for sudden infant death syndrome. Ten years ago, non-prone sleeping was recommended in many countries around the world including Israel. The rate of infants sleeping prone and the rate of parents' adherence with the recommendations have not been studied.

Objectives: To study infants' sleep position and parents’ adherence to recommendations, and to identify risk factors for prone sleeping following the campaign to prevent prone sleeping in the Israeli population.

Methods: We conducted a longitudinal telephone survey with the parents of 608 randomly selected 2 month old infants, repeated at 4 and 6 months.

Results: Non-prone sleeping decreased from 75% to 67% and 63% at 2, 4 and 6 months respectively. There was a significant relationship between prone positioning and the use of a home apnea monitor at 2 months (P = 0.038, odds ratio 1.37, 95% confidence interval 0.94–2.15). Other risk factors for prone sleeping were the level of religious practice, with ultra-Orthodox Jews having the highest prevalence (2 months: OR[1] 2.78, 95% CI[2] 1.75–4.55) and higher parity – especially in families with more than five children (P = 0.041).

Conclusions: The prone sleeping position is relatively high in Israel. Groups at high risk were closely associated with the level of religiousness and parity. Efforts to promote supine sleeping should be directed towards identifiable groups.

Background: Ovarian vein embolization was recently suggested as the preferred treatment for chronic pelvic pain syndrome.

Objective: To evaluate the technical feasibility, complications and early clinical and radiographic results of ovarian vein embolization in women with pelvic pain syndrome.

Methods: Percutaneous transcatheter ovarian vein embolization with coils was performed in six patients aged 27–53 years who presented with pelvic pain syndrome. All had lower abdominal pain, and pelvic varicosities were found on Doppler ultrasound and retrograde ovarian vein venography. Embolization was done unilaterally in three patients (on the left side) and bilaterally in three. Mean follow-up by telephone questionnaire was 7.3 months.

Results: The procedure was technically successful in all patients. Two patients reported partial relief of symptoms (33.3%) and three had complete relief (50%), for a total of 5 patients (83.3%) with some measure of improvement. There were no complications following the procedure.

Conclusions: Percutaneous transcatheter ovarian vein embolization seems to be safe and feasible for the treatment of pelvic pain syndrome. The procedure is performed on an outpatient basis and is well tolerated by patients.

Background: The ischemic “steal” syndrome complicates angio-access in a growing number of hemodialysed patients. Until now, operative attempts (fistula ligation or banding) to treat this problem have met with only limited success.

Objective: To assess the results of DRIL (distal revascularization-interval ligation) procedure in treating the “steal” syndrome.

Methods: A retrospective review (1996–2002) was conducted of all 11 patients who underwent the DRIL[1] procedure in two tertiary care hemodialysis units.

Results: Two patients were excluded because of inadequate medical documentation. All of the nine patients remaining suffered from overt atherosclerotic disease, six had diabetic nephropathy and four were smokers. The arterio-venous access, which led to the “steal” syndrome, was proximally located in all (antecubital in 8, thigh area in 1). “Steal” symptoms included hand pain, paraesthesia, neurologic deficits and gangrenous ulcers. DRIL was technically successful in all patients. There were no perioperative deaths. Immediate and complete relief of pain was achieved in eight of the nine patients. One patient with gangrene later required a transmetacarpal amputation. No patient required hand amputation. During follow-up (range 1–26 months) hemodialysis was continued uninterruptedly using the problematic AVA[2] in all patients. Thrombosis occurred in the AVA in only two patients after the DRIL procedure at 9 and 24 months postoperatively, respectively. Three patient deaths were unrelated to the DRIL.

Conclusions: In selected patients the DRIL procedure is a safe and effective way to treat the “steal” syndrome. AVA patency is not compromised by this operation. Preoperative angiography, before and after manual compression of the AVA, is crucial for the proper selection of patients who will benefit most from the DRIL procedure.