Israel Medical Association Journal

Background: Little is known about phenotypical variations among ethnic groups in patients with Parkinson's disease (PD) in Israel. Clinical characteristics of non-Ashkenazi Jews (NAJ) are scantly described.

Objectives: To describe clinical aspects of PD in ethnic groups in Israel, focusing on NAJ and Ashkenazi Jews (AJ).

Methods: In this cross-sectional retrospective study, we collected demographic, genetic, and clinical characteristics of patients from different ethnic Jewish backgrounds. Ethnic groups included AJ; North African Jews (NAFJ); oriental Jews (OJ) originating from Iran, Iraq, and Buchara; Balkan Jews; Yemenite Jews (YJ); and Jews of mixed origin. Clinical characteristics included hyposmia, urinary complaints, constipation, and rapid eye movement sleep behavioral disorder. Cognitive complaints, motor features, levodopa-induced dyskinesia, and motor fluctuations were collected. Motor part of the MDS-UPDRS and Hoehn and Yahr scores were collected.

Results: The study comprised 174 PD Jewish patients (63.2% AJ, 56.4% males). The age at onset was 65.3 ± 10.2 years; 106 patients (60.9%) were genotyped (17 glucocerebrosidase [16.0%], 13 leucine-rich repeat kinase 2 [LRRK2] [12.3%]). Rates of hyposmia were significantly higher in AJ than NAJ (56.6% vs. 39.5%, respectively, P = 0.003). No significant differences were found in motor features in all variables. Of 13 AJ patients carrying the LRRK2 mutation, only one had hyposmia. Three patients with LRRK2 were NAJ.

Conclusions: Hyposmia is less prevalent in PD patients of NAJ origin than in AJ. The rate of hyposmia in NAFJ patients is particularly low. The rate of other non-motor features is similar between NAJ and AJ patients.

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: Patient feedback is increasingly being used to assess the quality of healthcare.

Objective: To identify modifiable independent determinants of patient dissatisfaction with hospital emergency care.

Methods: The study group comprised a random sample of 3,152 of the 65,966 adult Israeli citizens discharged during November 1999 from emergency departments in 17 of the 32 acute care hospitals in Israel. A total of 2,543 (81%) responded to a telephone survey tht used a structured questionnaire. The ndependent variables included: hospital characteristics, patient demographic variables, patient perception of care, self-rated health status, problem severity, and outcome of care. The dependent variable was dissatisfaction with overall ED[1] experience on a 1–5 Likert-type scale dichotomized into not satisfied (4 and 5) and satisfied (1,2 and 3).

Results: Eleven percent of the population reported being dissatisfied with their emergency room visit. Univariate analyses revealed that dissatisfaction was significantly related to ethnic group, patient education, hospital identity and geographic location, perceived comfort of ED facilities, registration expediency, waiting times, perceived competence and attitudes of caregivers, explanations provided, self-rated health status, and resolution of the problem that led to referral to the ED. Multivariate analyses using logistic regressions indicated that the four most powerful predictors of dissatisfaction were patient perception of doctor competence and attitudes, outcomes of care, ethnicity, and self-rated health status.

Conclusions: Attempts to reduce dissatisfaction with emergency care should focus on caregiver conduct and attitudes. It may also be useful to improve caregiver communication skills, specifically with ethnic minorities and with patients who rate their health status as poor.

Background: Prevention of cigarette smoking is an important issue in public health policy. Since most adult smokers began smoking in childhood, understanding behavor­ial factors associated with smoking initiation would contribute to smoking initiation programs. Health-related behavior may vary between different ethnic groups.

Objectives: To determine the prevalence of smoking among Jewish and Arab adolescents in Jerusalem, and whether there are differences in smoking initiation between the two ethnic groups.

Methods: We carried out a cross-sectional survey of all students in the 6th to 11th grades (age range 11-17 years) of a Jewish school and an Arab school in the Jerusalem area, using an anonymous self-completion questionnaire. A total of 791 questionnaires was analyzed, 479 from the Jewish students and 312 from the Arab students.

Results: The lowest prevalence of smoking was found among Arab female students and the highest among Jewish female students (9% vs. 41%, P<O.OO1). The prevalence of smoking among Jewish and Arab males was similar. More Arab female students smoked than their mothers. Peer pressure seemed to be a more important factor among Jewish students.

Conclusions: This study demonstrated the presence of ethnic differences in smoking prevalence and the reasons for smoking among adolescents in Israel. These results suggest the need for specific smoking prevention policies for different ethnic groups.