Israel Medical Association Journal

Background: With regard to ethnic predilections for Gaucher disease, the most common storage disorder, Ashkenazi Jews are at risk for the non-neuronopathic form (type I), Norbottnian Swedes are at risk for the sub-acute neuronopathic form (type III), and perhaps Arabs are at risk for the very rare cardiac variant of the sub-acute neuronopathic form (type IIIc) for which there is a relatively tight genotype-phenotype correlation. Type II, the acute infantile form, being the rarest form, has not been associated with any ethnic predilection.

Objectives: To examine whether Arab ethnicity influences the Gaucher phenotype.

Methods: We reviewed the records of all Arab patients in a referral clinic of 586 patients in Israel.

Results: There were 46 patients (7.8%) of Arab ethnicity: 23 (50%) had type I disease, 16 (34.8%) had type IIIc disease, 4 (8.7%) had type IIIb disease, and 3 (6.5%) had type II disease. Type IIIc disease was characterized by genotype-phenotype correlation with homozygosity for the D409H (1342C) mutation. All five Bedouin patients (10.9%) had the R48W (C259T) mutation on at least one allele.

Conclusions: For all genotypes, disease severity among Arab patients was relatively similar to that reported among other Caucasian patients. Apparently Arab ethnicity does not impact phenotypic expression in Gaucher disease in a unique manner. The predilection for type IIIc may be a result of consanguinity.
 

Background: Heart rate variability is a sensitive marker of cardiac sympathetic activity.

Objectives: To determine whether long-term hyperthyroidism induced by thyroxine suppressive therapy affects HRV[1].

Methods: Nineteen patients treated with suppressive doses of thyroxin for thyroid cancer and 19 age-matched controls were enrolled. Thyroid function tests and 1 minute HRV were performed on all subjects and the results were compared between the groups. The 1 minute HRV was analyzed during deep breathing and defined as the difference in beats/minute between the shortest and the longest heart rate interval measured by eletrocardiographic recording during six cycles of deep breathing.

Results:  One minute HRV during deep breathing was significantly lower among thyroxine-treated patients compared to healthy controls (25.6 ± 10.5 vs. 34.3 ± 12.6 beats/min, P < 0.05). There were no significant differences in mean, maximal and minimal heart rate between the groups

Conclusions: Thyroxine therapy administered for epithelial thyroid cancer resulted in subclinical hyperthyroidism and significantly decreased HRV due to autonomic dysfunction rather than basic elevated heart rate.

Background: In view of the rising prevalence of obesity, the identification of young adult populations at risk is important for the formulation of intervention and prevention programs.

Objectives: To assess demographic and behavioral factors associated with an increase in body mass index in young healthy adults and to identify the incidence of overweight/obesity in this population.

Methods: Data on anthropometric measures, demographic characteristics, and health behaviors were collected retrospectively for a representative sample of young Israeli adults (11,391 men, 11,280 women) on their release from military service (age 20–22 years) between 1989 and 2003. The incidence of overweight (BMI[1] < 25-< 30 kg/m²), incidence of obesity (BMI ≥ 30 kg/m²), and increase in BMI during military service were calculated.

Results: The average increase in BMI during military service was 1.11 kg/m² in males and 1.08 kg/m² in females. A greater increase was positively associated with low paternal education and smoking cessation, and negatively associated with high physical activity. Twelve percent of subjects with a normal BMI on recruitment became overweight, and 21.7% of overweight subjects became obese. On multivariate logistic regression analysis, a higher incidence of overweight was associated with low education level (in both the subject and his or her father) in both genders, and non-use of oral contraceptives and low level of physical activity in females.

Conclusions: BMI appears to increase significantly during early adulthood. Intervention programs should be targeted specifically at subjects with low education or who started smoking before age 18, and physical activity (especially among females) should be encouraged.

Background: Negative-pressure therapy for the closure of wounds, a technique to accelerate secondary wound healing, is clinically available as the V.A.C.™ system (KCI Inc, San Antonio, TX, USA). Budgetary considerations in our institution precluded widespread use of the expensive V.A.C.™ system in routine cases.

Objectives: To develop a less expensive comparably effective dressing, based on the same principles.

Methods: We used our “homemade” system to treat 15 patients with appropriate complex wounds. Their hospital charts were reviewed and assessed retrospectively. Cost analysis was performed comparing our dressing with the V.A.C.™ system.

Results: Our homemade negative-pressure wound treatment system obtained results similar to what one could expect with the V.A.C.™ System in all parameters. Complications encountered were few and minor. Cost per day using our negative-pressure system for a 10 cm² wound is about US$1, as compared to US$22, utilizing the V.A.C.™ System.

Conclusions: Our homemade negative-pressure system proved to be a good cost-effective treatment for wound closure in hospitalized patients, yielding results comparable to those of the more expensive V.A.C.™ system.
 

Background: The frequency of colorectal cancer screening tests in Israel is poor, and is much lower than in the United States. This low rate has been attributed to health system failures as well as to barriers on the part of both physicians and patients.

Objectives: To further identify particular health system failures, physician and patient-based barriers, and the effectiveness of public lectures in improving the frequency of performance of CRC[1] screening tests.

Methods: Public lectures on colorectal cancer prevention were held. A gastroenterologist presented the lectures, which were followed immediately by a questionnaire and 4 months later by a telephone call.

Results: Of the 80% of attendees who had never undergone any CRC screening test, only 18% reported family physician recommendations for such tests. Eighty-four percent reported willingness to undergo fecal occult blood testing and 52% to undergo colonoscopy; 62% replied that they should undergo some CRC screening test and 90% believed that these tests save lives. Of the women, 47% expressed preference for a female gastroenterologist. Follow-up showed that 34% proceeded to undergo some CRC screening test: 60% chose colonoscopy and 40% FOBT[2].

Conclusions: Public lectures are effective at improving compliance with the CRC screening test. Physicians should recommend these tests to appropriate individuals. Same-gender gastroenterologists should be considered for individuals uneasy about someone from the opposite gender performing the test. Assessing the various health-promotion efforts can direct us in implementing finite resources to greatest effect. Local cancer institutes and societies may be supportive in disseminating screening information in this way.

Background: Cardiac computed tomography angiography is a relatively new imaging modality to detect coronary atherosclerosis.

Objectives: To explore the diagnostic value of CTA[1] in assessing coronary artery disease among asymptomatic patients.

Methods: In this retrospective single-centered analysis, 622 consecutive patients underwent CTA of coronary arteries between November 2004 and May 2006 at the Mor Institute for Cardiovascular Imaging in Bnei Brak, Israel. All patients were asymptomatic but had at least one risk factor for atherosclerotic CAD[2]. The initial 244 patients were examined with the 16-slice Brilliance CT scanner (Philips, Cleveland, OH, USA), and in the remaining 378 patients the 64-slice scanner (GE Healthcare, The Netherlands) with dedicated cardiac reconstruction software and electrocardiography triggering was used. Scanning was performed in the cranio-caudal direction. Images reconstructed in different phases of the cardiac cycle using a retrospective ECG-gated reconstruction algorithm were transferred to a dedicated workstation for review by experienced CT radiologists and cardiologists.

Results: Of 622 patients, 52 (8.4%) had severe obstructive atherosclerosis (suspected ≥ 75% stenosis) according to CTA interpretation. Invasive coronary angiography was performed in 48 patients while 4 patients had no further procedure. A non-significant CAD (e.g., diameter stenosis < 70%) was identified in 6 of 48 patients (12%) by selective coronary angiography. Forty-two patients showed severe CAD with at least one lesion of ≥ 70% stenosis. Percutaneous coronary intervention was performed in 35 patients and coronary artery bypass grafting surgery in the other 4 patients. Angioplasty procedures were successful in all 35 patients and stents were utilized in all cases without complications. No further complications occurred among the study cohort undergoing either PCI[3] or surgery. The 6 month survival rate in these patients was 100%.

Conclusions: Non-invasive coronary CTA appears to be a reliable technique, with reasonably high accuracy, to detect obstructive atherosclerosis in asymptomatic high risk patients for atherosclerotic CAD.

Raynaud's phenomenon, fatigue and pain (myalgia and arthralgia) are important presenting symptoms of pediatric-onset mixed connective tissue disease. The difficulty is that many adolescent girls complain of pain along with fatigue without evidence for serious disease. However, in patients with Raynaud's phenomenon one should search for evidence of connective tissue diseases. Capillaroscopy could be helpful since capillary changes of the SD-type significantly correlate with future development of scleroderma spectrum disorders. Symptoms of MCTD[1] change in most patients during the disease course: in general the inflammatory features that are also seen in systemic lupus erythematosus and juvenile dermatomyositis have the tendency to disappear over years, but Raynaud's phenomenon is persistent and scleroderma symptoms become progressively prominent. Long-lasting remission occurs only in a minority of patients, while the majority has mild disease activity. Mortality in children with MCTD is lower than in adults. Since a change of symptoms is in the nature of the disease a thorough and frequent evaluation of children with (probable) MCTD is important to detect organ involvement which, if present, should be treated at an early (pre-symptomatic) stage. We present a diagnostic workup scheme for children and adolescents with propable MCTD.

The question of who discovered insulin is controversial. One of the scientists working on pancreas extracts was Nicolae Paulescu, the so-called Forgotten Man. In addition to his scientific research he was also active in politics. He was the father of the virulent antisemitic fascist movement “Garda de Fer” in Romania; he raved against the “Jewish Peril,” claimed in his writings that the Jews are a genetically degenerate people trying to cheat and poison the Rumanian people by alcoholism, and more. His name came up in 2003 when Romanian diabetologists initiated a move to honor him. But voices rose in protest, claiming that persons who incite hatred, support persecution and genocide and distort science as their political tools cannot be accepted or rewarded. The protesters won.