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: The cognitive impairment (frontal, parietal) in many patients with multiple sclerosis does not correlate with the degree of neurological disability and disease duration. Frontal/prefrontal cognitive impairment requires neuropsychological diagnostic tools.

Objectives: To evaluate the clinical effect of IFNβ-1b[1] (Betaferon®) treatment on cognitive function and event-related potential as compared to the clinical course (EDSS[2]) in MS patients during 1 year of follow-up.

Methods: This prospective open-label design study included 16 consecutive patients with relapsing forms of MS attending the MS outpatient clinic. Mean EDSS score was calculated prior to starting treatment. Parietal lobe event-related potential P300 was elicited using an auditory physical stimulus to an alert subject. Mean P300 amplitude and latency were calculated for the group before treatment. The Wisconsin Card Sorting Test, which measures frontal lobe functions, was performed before the treatment. After 1 year of treatment a second P300 and Wisconsin Card Sorting Test were performed and the mean change between visit 1 and baseline was calculated for each parameter. Correlation between the change in P300 and the Wisconsin Card Sorting Test score at baseline was measured using the paired t-test.

Results: There was a significant reduction in P300 amplitude and latency after 1 year of treatment with IFNβ-1b: from 20.3 ± 8.3 μv to 13.1 ± 10.6 μv (P = 0.026) for amplitude, and from 312.9 ± 15.6 msec to 302.0 ± 17.0 msec (P = 0.002) for latency. The Perseverative Response (raw score) and the Perseverative Response U.S. Census age-matched standard score showed a significant improvement – from 20.7 ± 30.7 to 13.1 ± 10.6 (P = 0.001) and 96.7 ± 15.7 to 100.1 ± 11.1 (P = 0.0025) respectively – after 1 year of treatment. A mild but not significant improvement was observed on the EDSS after 1 year of treatment: 2.9 ± 0.5 to 2.8 ± 1.1.

Conclusions: A cognitive decline in MS patients may have a negative impact on the quality of life, affecting all active daily living domains. IFNβ-1b, a disease-modifying therapy, has demonstrated a positive therapeutic effect on cognitive dysfunction, unrelated to its effect on the EDSS score and course of the disease.

Background: During the last decade new surgical techniques for mitral valve repair were developed. We have been using those techniques in order to widen the spectrum of patients eligible for MV[1] repair.

Objectives: To assess the operative and mid-term results a wide variety of surgical techniques.

Methods: From January 2004 through December 2006, 213 patients underwent MV repair in our institution. Valve pathology was degenerative in 123 patients (58%), ischemic in 37 (17%), showed annular dilatation in 25 (12%), endocarditis in 16 (8%), was rheumatic in 13 (6%), and due to other causes in 14 (7%). Preoperative New York Heart Association score was 2.35 ± 0.85 and ejection fraction 53 ± 12%. Isolated MV repair was performed in 90 patients (42%) and 158 concomitant procedures were done in 123 patients (58%). A wide variety of surgical techniques was used in order to increase the number of repairs compared to valve replacement.

Results: There were 7 in-hospital deaths (3.3%). NYHA[2] class improved from 2.19 ± 0.85 to 1.4 ± 0.6, and freedom from reoperation was 100%. Echocardiography follow-up of patients with degenerative MV revealed that 93% of the patients (115/123) were free of mitral regurgitation greater than 2+ grade. In patients operated by a minimal invasive approach there were no conversions to sternotomy, no late deaths, none required reoperation, and 96% were free of MR[3] greater than 2+ grade. The use of multiple surgical techniques enabled the repair of more than 80% of pure MR cases.

Conclusions: MV repair provides good perioperative and mid-term results, and supports the preference for MV repair over replacement, when feasible. Multiple valve repair techniques tailored to different pathologies increases the feasibility of mitral repair.

Objectives: To describe the technique of CEL[1] and present our clinical results in the management of patients with CSM[2] due to multilevel compressive disease.

Methods: All patients undergoing CEL during the period 1984–2000 were identified. Of these, 24 of 25 patients had complete clinical information. Mean follow-up was 18 months (range 4–48). Mean age was 60 years (range 45–72). One patient underwent CEL at three levels, 22 at four to five levels and 1 patient at six levels The primary outcome measure was improvement in spinal cord function (according to the Nurick classification).

Results: Twenty-three (96%) of the patients experienced relief of their symptoms. Of these, 11 patients showed improvement in their Nurick grade, 12 patients were unchanged and one had worsening. Intraoperative complications (epidural bleeding and dural tear) occurred in six patients. Two patients developed a late kyphosis.

Conclusions: Our treatment of choice for multilevel CSM is canal expansive laminoplasty as initially described by Hirabayashi. It provides the ability for posterior surgical decompression without compromising the mechanical stability of the spine. This approach has the benefit of not requiring internal fixation and fusion. Our clinical outcome and surgical complication rate is comparable to other studies in the literature.

Background: Q fever is endemic in Israel, yet a large series describing the clinical spectrum of inpatients with acute Q fever in Israel is lacking. 

Objectives: To report on the clinical characteristics and outcome of hospitalized patients with acute Q fever in Israel. 

Methods: We conducted a retrospective study of 100 patients hospitalized in six medical centers, in whom acute Q fever was diagnosed by the presence of immunoglobulin G and M antibodies to phase II Coxiella burnetti antigens. 

Results: The mean age of the patients was 42.7 ± 17.3 years with a male to female ratio of 1.6:1. Acute Q fever occurred throughout the year but was more common during the warm season. The most common clinical presentation was acute febrile disease (98%, mean length of fever 15.5 ± 8.6 days), followed by hepatitis (67%) and pneumonia (32%). The prominent laboratory findings included: accelerated erythrocyte sedimentation rate, normal or low white blood count with many band forms, thrombocytopenia, and abnormal urinalysis. Although the diagnosis of acute Q fever was not known during the hospitalization in the majority of patients, about 80% of our patients received appropriate antibiotic therapy and all patients recovered. 

Conclusions: Patients with acute Q fever present with a typical clinical picture that enables clinical diagnosis and empiric therapy in most cases. The prognosis of hospitalized patients with acute Q fever is excellent.

Objectives: To estimate self-medication with antibiotics by a population in northern Israel.

Methods: We sent by post a questionnaire on antibiotic usage to 2,615 adults, both Jewish and Arab, living in northern Israel.

Results: The overall response rate was low (17.9%), particularly among the Arab population (9.4% of respondents). Among the 467 respondents, 169 (36.2%) reported 215 antibiotic courses within the last year. Amoxicillin was the antibiotic most commonly used (32.7% of courses); 89.4% of antibiotics were obtained via a physician’s prescription; 114 respondents (24.4%) stored leftover antibiotics at home and 81 (18.7%) would consider self-medication with antibiotics without a medical consultation.

Conclusions: Our results show that over-the counter acquisition of antibiotics is rare in Israel. However, the storage of leftover antibiotics in the home constitutes an alternative potential source of self-medication that can have untoward consequences, not only for the individual patient but also for the general population since inappropriate antibiotic usage contributes to the increasing rates of antimicrobial resistance.

Background: The lack of lactobacilli in the vagina of postmenopausal women due to estrogen deficiency plays an important role in the development of bacteriuria. In the last few years, the use of lactobacilli for the prevention of genitourinary infections has been explored using different probiotic strains.

Objectives: To evaluate the vaginal colonization by Lactobacillus rhamnosus GG in postmenopausal healthy women following oral administration of the bacteria in a yogurt base for 1 month, as a first step in evaluating the potential probiotic role of LGG[1] in the prevention of recurrent urinary tract infections.

Methods: One or two doses per day of yogurt containing 10⁹ colony forming units of LGG were administered orally to 42 postmenopausal healthy women for 1 month. Vaginal and rectal swabs were cultured at the beginning and end of the study.

Results: At the end of the study, the vaginas of only four women (9.5%) were colonized with LGG, at a very low number of bacteria, despite the fact that the gastrointestinal tracts of 33 women (78.6%) were colonized. There were no significant differences between one or two doses daily.

Conclusions: LGG should not be considered as a probiotic agent in urinary infections since it does not attach well to the vaginal epithelium.