Israel Medical Association Journal

Objectives: To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different families, with autosomal dominant OPMD.

Methods: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques.

Results: We identified five patients (four females), aged 58 to 71 years, with bilateral ptosis, dysphagia, dysphonia (n=3) and myopathic motor units by electromyography. In all patients we noticed proximal weakness of the upper limbs with winging scapulae in three of them. All cases shared the (GCG)13-(GCG)10 PABPN1 genotype.

Conclusions: OPMD among Bulgarian Jews is produced by a (GCG)13 expansion, identical to the mutation in Uzbek Jews and French Canadians. In addition to the classical neurological and neuro-ophthalmological features, early shoulder girdle weakness is common in Bulgarian Jewish patients; this is an unusual feature during the early stages of OPMD produced by the same mutation in other populations. We suggest that besides the disease-producing GCG expansion, additional ethnicity-related genetic factors may influence the OPMD phenotype. OPMD is a rare disease, and the identification of five affected families in the rather small Bulgarian Jewish community in Israel probably represents a new cluster; future haplotype studies may elucidate whether a founder effect occurred. 

Objectives: To evaluate the safety and applicability of the Elekta Synergy-S radiation unit for the treatment of spinal tumors.

Methods: We retrospectively reviewed all patients treated with stereotactic radiosurgery to spinal tumors between November 2007 and June 2011.

Results: Thirty-four patients were treated for 41 lesions. Treatment indications were local tumor control and pain palliation. The mean follow-up was 10.8 ± 11.6 months (range 0.5–38 months). No acute radiation toxicity or new neurological deficits occurred during the follow-up period. Local tumor control was achieved in 21 of the 24 lesions (87.5%) available for radiological follow-up at a median of 9.8 months (range 3–32 months). Good analgesia was achieved in 24/30 lesions (80%) that presented with intractable pain.

Conclusions: The safety and feasibility of delivering single and multiple-fraction stereotactic spinal irradiation was demonstrated and became a standard treatment option in our institution. 

Objectives: To evaluate the retention of CPR skills and confidence in delivering CPR by preclinical medical students.

Methods: A questionnaire and the Objective Structured Clinical Examination (OSCE) were used to assess confidence and CPR skills among preclinical, second and third-year medical students who had passed a first-aid course during their first year but were not retrained since.

Results: The study group comprised 64 students: 35 were 1 year after training and 29 were 2 years after training. The groups were demographically similar. Preparedness, recollection and confidence in delivering CPR were significantly lower in the 2 years after training group compared to those 1 year after training (P < 0.05). The mean OSCE score was 19.8 ± 5.2 (of 27) lower in those 2 years post- training than those 1 year post-training (17.8 ± 6.35 vs. 21.4 ± 3.4 respectively, P = 0.009). Only 70% passed the OSCE, considerably less in students 2 years post-training than in those 1 year post-training (52% vs. 86%, P < 0.01). Lowest retention was found in checking safety, pulse check, airway opening, rescue breathing and ventilation technique skills. A 1 year interval was chosen by 81% of the participants as the optimal interval for retraining (91% vs. 71% in the 2 years post-training group vs. the 1 year post- training group respectively, P = 0.08).

Conclusions: Confidence and CPR skills of preclinical medical students deteriorate significantly within 1 year post-training, reaching an unacceptable level 2 years post-training. We recommend refresher training at least every year.

Background: Type 1 diabetes in humans is an autoimmune disease in which T cells target pancreatic islets of Langerhans, leading to the progressive destruction of the insulin-producing beta cells. Both genetic and environmental factors contribute to the development of autoimmune diabetes. The non-obese diabetic (NOD) mouse model of human type 1 diabetes demonstrates two missense mutations in the transient receptor potential vanilloid receptor-1 (TRPV1) gene.

Objectives: To investigate whether polymorphism in the TRPV1 gene may play a role in the predisposition to human type 1 diabetes.

Methods: We genotyped 146 Ashkenazi Jewish type 1 diabetic patients and 205 Ashkenazi Jewish healthy controls for the rs222747 (M315I), rs224534 (T469I) and rs8065080 (I585V) variants of the TRPV1 gene.

Results: There was a significant increase in the rs222747 (M315I) variant of the TRPV1 gene in the type 1 diabetes cohort compared to the control: rs222747 (M315I) homozygous: (61% vs. 48.3%, P = 0.02). Logistic regression analysis revealed that type1 diabetes was significantly associated with rs222747 (M315I), such that having diabetes increased the odds of rs222747 homozygosity (M315I) by 67.2%, odds ratio 1.6, 95% confidence interval 1.08–2.57, P < 0.02. No difference was found in the rs224534 (T469I) and rs8065080 (I585V) allelic variants. There was no difference in any of the TRPV1 variants by gender, age when type1 diabetes was diagnosed, body mass index, glycemic control, blood pressure, positive autoantibodies (ICA, GAD, IAA), and other autoimmune diseases.

Conclusions: Our study demonstrates that TRPV1 may be a susceptible gene for type 1 diabetes in an Ashkenazi Jewish population. These results should be replicated in the same ethnic group and in other ethnic groups.

Background: The articular surface replacement (ASR) total hip arthroplasty (THA) was recently recalled from the market due to high failure rates. This modality was used frequently by surgeons at our medical center.

Objectives: To assess the clinical and radiographic outcomes in patients following the surgery and determine the revision rate in our cohort.

Methods: Between 2007 and 2010 139 hips were operated on and evaluated in our clinic. All patients underwent a clinical interview, function and pain evaluation, as well as physical examination and radiographic evaluation. When necessary, patients were sent for further tests, such as measuring cobalt-chromium levels and magnetic resonance hip imaging. Results: With an average follow-up of 42 months the revision rate was 2% (3/139). Patients reported alleviation of pain (from 8.8 to 1.7 on the Visual Analog Scale, P < 0.001), good functional outcomes on the Harris Hip Score, and improved quality of life. Overall satisfaction was 7.86 on the reversed VAS[1]. For patients who required further tests, clinical and radiographic outcomes were significantly poorer than for the rest of the cohort. Average blood ion levels were high above the normal (cobalt 31.39 ppb, chromium 13.32 ppb), and the rate of inflammatory collection compatible with pseudotumors on MRI was 57%.

Discussion: While our study favors the use of the ASR implant both clinically and radiographically, some patients with abnormal ion levels and inflammatory collections on MRI might require revision in the future. 

Objectives: To evaluate the predictive value regarding patients' survival once the diagnosis of “general deterioration” replaces an ICD-9 diagnosis upon re-admission.

Methods: In a retrospective cohort case-control study, we screened the records of patients re-admitted at least three times during the past 2 years. For each patient's death during the third hospitalization, we matched (for age and gender) a patient who survived the third hospitalization. We evaluated 14 parameters potentially accountable for increased risk of mortality, e.g., length of stay at each admission, interval to re-admission, etc. We applied a multifactorial analysis using logistic regression to predict the risk of mortality during the third hospitalization as potentially affected by the aforementioned parameters.

Results: The study included 81 study patients and 81 controls. Of the 14 parameters potentially explaining an increased risk of mortality during the third hospitalization, several were found to be statistically significant. The most significant was the diagnostic switch from a specific ICD-9 diagnosis on first admission to the non-specific diagnosis of “general deterioration” at the second hospitalization. In such cases, the risk of death during the third hospitalization was increased by 5300% (odds ratio = 54, P = 0.008). The increased risk of mortality was not restricted to patients with malignancy as their background diagnosis.

Conclusions: At re-admission, a switch from disease-specific diagnosis to the obscure diagnosis “general deterioration” increases the subsequent risk of mortality.

Objective: To examine the association of mild and severe anemia with acute HF severity and mortality.

Methods: Data were prospectively collected for patients admitted to all departments of medicine and cardiology throughout the country during 2 months in 2003 as part of the Heart Failure Survey in Israel. Anemia was defined as hemoglobin (Hb) < 12 g/dl for women and < 13 g/dl for men; Hb < 10 g/dl was considered as severe anemia. Mortality data were obtained from the Israel population registry. Median follow-up was 33.6 months.

Results: Of 4102 HF patients, 2332 had acute HF and available hemoglobin data. Anemia was common (55%) and correlated with worse baseline HF. Most signs and symptoms of acute HF were similar among all groups, but mortality was greater in anemic patients. Mortality rates at 6 months were 14.9%, 23.7% and 26.3% for patients with no anemia, mild anemia, and severe anemia, respectively (P < 0.0001), and 22.2%, 33.6% and 39.9% at one year, respectively (P < 0.0001). Compared to patients without anemia, multivariable adjusted hazard ratio was 1.35 for mild anemia and 1.50 for severe anemia (confidence interval 1.20–1.52 and 1.27–1.77 respectively).

Conclusions: Anemia is common in patients with acute HF and is associated with increased mortality correlated with the degree of anemia.