Tamy Shohat

Persistent Asymptomatic Isolated Microscopic Hematuria in Israeli Adolescents and Young Adults and Risk for End-Stage Renal Disease

CONTEXT Few data are available on long-term outcomes among adolescents and young adults with persistent asymptomatic isolated microscopic hematuria. OBJECTIVE To evaluate the risk of end-stage renal disease (ESRD) in adolescents and young adults with persistent asymptomatic isolated microscopic hematuria. DESIGN, SETTING, AND PARTICIPANTS Nationwide, population-based, retrospective cohort study using medical data from 1,203,626 persons aged 16 through 25 years (60% male) examined for fitness for military service between 1975 and 1997 were linked to the Israeli treated ESRD registry. Incident cases of treated ESRD from January 1, 1980, to May 31, 2010, were included. Cox proportional hazards models were used to estimate the hazard ratio (HR) of treated ESRD among those diagnosed as having persistent asymptomatic isolated microscopic hematuria. MAIN OUTCOME MEASURES Treated ESRD onset, defined as the date of initiation of dialysis treatment or the date of renal transplantation, whichever came first. RESULTS Persistent asymptomatic isolated microscopic hematuria was diagnosed in 3690 of 1,203,626 eligible individuals (0.3%). During 21.88 (SD, 6.74) years of follow-up, treated ESRD developed in 26 individuals (0.70%) with and 539 (0.045%) without persistent asymptomatic isolated microscopic hematuria, yielding incidence rates of 34.0 and 2.05 per 100,000 person-years, respectively, and a crude HR of 19.5 (95% confidence interval [CI], 13.1-28.9). A multivariate model adjusted for age, sex, paternal country of origin, year of enrollment, body mass index, and blood pressure at baseline did not substantially alter the risk associated with persistent asymptomatic isolated microscopic hematuria (HR, 18.5 [95% CI, 12.4-27.6]). A substantially increased risk for treated ESRD attributed to primary glomerular disease was found for individuals with persistent asymptomatic isolated microscopic hematuria compared with those without the condition (incidence rates, 19.6 vs 0.55 per 100,000 person-years, respectively; HR, 32.4 [95% CI, 18.9-55.7]). The fraction of treated ESRD attributed to microscopic hematuria was 4.3% (95% CI, 2.9%-6.4%). CONCLUSION Presence of persistent asymptomatic isolated microscopic hematuria in persons aged 16 through 25 years was associated with significantly increased risk of treated ESRD for a period of 22 years, although the incidence and absolute risk remain quite low.

Trends in the frequencies of consanguineous marriages in the Israeli Arab community

To assess the trends in the frequency of consanguineous marriages in the Israeli Arab population in the last 40 years, we conducted a two‐part study. For the first part, we re‐analyzed data from a nationwide study carried out in 1992, and for the second part, we undertook a new survey in 1998 in four locations: Taibe, Tira, Kalansuwa and Kafr Bara. Data regarding the frequency of consanguineous marriage in these four locations for the years 1961–1985 was extracted from the original survey, and for the years 1986–1998, from new questionnaires. 
The frequency of consanguineous marriage was highest in the period 1961–1965 (50.6%), but by the period 1981–1985 it had decreased to 40.6%. Over the whole time span of the 1992 study, a significant decrease was observed between the periods 1961–1975 and 1976–1985 (p<0.0001). 
In the four‐location study, there was a significant decrease in the frequency of consanguineous marriage from 52.9% in the period 1961–1970 to 32.8% in the period 1991–1998 (p=0.0006). We conclude that the custom of consanguineous marriage in the studied population is still extremely high, and preventive measures should be taken to decrease its frequency and associated complications.

Factors affecting performance of prenatal genetic testing by Israeli Jewish women.

The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. This study evaluated the proportion of Jewish women in Israel who perform the various prenatal genetic tests and the factors affecting the performance of these tests. It was found that 60.9% of the women performed the triple test, 50.8% of women older than 35 years performed amniocentesis, while 63.3 and 24.3% of women performed Tay‐Sachs and fragile‐X carrier testing respectively. Ninety‐six percent of the secular women compared to only 6.7% of the ultrareligious women performed the triple test. It was also found that94.4% of the secular women, 36.4% of the religious, and none of the ultrareligious women older than 35 years performed amniocentesis. In the stepwise regression analysis, being secular, having a higher income, fewer children, and being of Ashkenazi origin remained significant factors in determining performance of Tay‐Sachs carrier testing. As regards fragile‐X carrier testing, being secular, having fewer than four children, and having a higher income and a supplementary medical insurance remained significant factors. The main reason reported by the women for not performing amniocentesis or the triple test was for religious or moral grounds (53.3 and 67% respectively). The main reason given for not performing Tay‐Sachs or fragile‐X testing was that they were not referred for the tests (76 and 82% respectively). Consideration should be given to providing first trimester prenatal diagnosis to the ultrareligious group, including state subsidized fragile‐X testing and educating the primary care givers about the importance of prenatal genetic testing. The information from the present study is vital for the planning of an equitable prenatal genetic service and provides guidelines for the implementation of such services in other countries.

The risk for congenital heart defects in offspring of individuals with congenital heart defects

Background: Congenital heart defects (CHDs) occur in approximately 1% of all live births. Although most CHDs are of unknown etiology, a family history of CHDs is a known risk factor, and offspring of individuals with CHDs are at a higher risk of having CHDs. The aim of this study was to investigate the relative risk for CHDs to offspring of individuals with CHDs. 
Methods: The prevalence rates of CHDs in offspring of 203 individuals with CHDs and 282 individuals without CHDs were investigated. The study participants completed a questionnaire that included information on medical and reproductive history, lifestyle indicators, and family history of CHDs and other congenital malformations. The prevalence rates of CHDs in offspring were calculated. 
Results: The prevalence of CHDs was 3.1% (18/575) in offspring of individuals with CHDs and 1.3% (8/589) in offspring of individuals without CHDs. The adjusted odds ratio for CHDs to offspring of parents with CHDs was 1.73 (95% confidence interval [95% CI] 0.89–2.44, p=0.02). The estimated relative risk for offspring to females with CHD was higher than for males [2.3 (95% CI 1.1–4.7, p=0.03) versus 1.31 (95% CI 0.48–4.30, p=0.66), respectively]. There was no suggestion of association between CHDs and maternal smoking, alcohol consumption, and use of medication during pregnancy. 
Conclusions: Offspring of parents with CHDs are at a higher risk for CHDs compared with the general population. Couples where one member is affected with CHD should receive pre‐conceptional or pre‐natal genetic counseling and should be informed about the magnitude of the potential risk of CHDs to the offspring.

A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21.

Linkage studies were performed in a large family with an autosomal dominant phenotype characterized by nephropathy and hypertension. In this family of Iraqi Jewish origin, the nephropathy develops into progressive renal failure. By performing a genomewide linkage search, we localized the disease gene to chromosome 1q21; the highest LOD score was obtained for the marker at locus D1S305, which yielded a maximum LOD score of 4.71 at a recombination fraction of 0. Recombination mapping defined an interval of approximately 11.6 cM, between the markers at loci D1S2696 and D1S2635, that contains the disease gene. Localization of the disease-causing gene in this family represents a necessary step toward isolation of the defective gene and toward a deeper understanding of the mechanisms of hypertension and progressive renal failure.

A Large Q Fever Outbreak in an Urban School in Central Israel

BACKGROUND. On 28 June 2005, numerous cases of febrile illness were reported among 322 students and employees of a boarding high school located in an urban area in central Israel. Subsequent investigation identified a large outbreak of Q fever which started 2 weeks earlier. We describe the investigation of this outbreak and its possible implications. METHODS. We conducted a case-control study to identify risk factors for Q fever disease. Environmental sampling was conducted to identify the source and the mode of transmission of Coxiella burnetii, the infectious agent. RESULTS. Of 303 individuals, 187 (62%) reported being ill between 15 June and 13 July 2005. Serological evidence for C. burnetii infection was evident in 144 (88%) of the 164 tested individuals. Being a student, dining regularly at the school dining room, and boarding at school during a June religious holiday and the preceding weekend were all significant risk factors for contracting Q fever. C. burnetii DNA was detected using polymerase chain reaction on samples from the school dining rooms air conditioning system, supporting contribution of the air conditioning system to the aerosol transmission of the infectious agent. CONCLUSIONS. We report a large outbreak of Q fever in an urban school, possibly transmitted through an air conditioning system. A high level of suspicion for C. burnetii infection should be maintained when investigating point source outbreaks of influenza-like disease, especially outside the influenza season.

Urinary concentrations of organophosphate pesticide metabolites in adults in Israel: demographic and dietary predictors.

Exposure to organophosphate pesticides (OPs) in agricultural and urban populations has been associated with a range of adverse health effects. The purpose of the current study was to estimate exposure to OPs in the general adult population in Israel and to determine dietary and demographic predictors of exposure. We measured six non-specific organophosphate pesticide metabolites (dialkyl phosphates) in urine samples collected from 247 Israeli adults from the general population. We collected detailed demographic and dietary data from these individuals, and explored associations between demographic and dietary characteristics and urinary dialkyl phosphate concentrations. OP metabolites were detectable in all urine samples. Concentrations of several dialkyl phosphate metabolites (dimethylphosphate, dimethylthiophosphate, diethylphosphate) were high in our study population relative to the general populations in the US and Canada and were comparable to those reported in 2010 in France. Total dialkyl phosphates were higher in individuals with fruit consumption above the 75th percentile. In a multivariate analysis, total molar dialkyl phosphate concentration increased with age and was higher in individuals with high income compared to individuals with the lowest income. Total diethyl metabolite concentrations were higher in females and in study participants whose fruit consumption was above the 75th percentile. In conclusion, we found that levels of exposure to OP pesticides were high in our study population compared to the general population in the US and Canada and that intake of fruits is an important source of exposure.

The incidence of idiopathic intracranial hypertension in Israel from 2005 to 2007: results of a nationwide survey

Idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri, is a disorder related to increased intracranial pressure without clinical, laboratory or radiological evidence of an intracranial space occupying lesion or cerebral sinus vein thrombosis, predominantly affecting obese women of childbearing age. Our aim was to determine the incidence and clinical features of IIH in Israel.

Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents

Objective There are limited data on long-term comorbidities and mortality among patients with familial Mediterranean fever (FMF). Our objective was to evaluate comorbidities and death rates among individuals with FMF. Methods We studied a nationwide, population-based, retrospective cohort of 1225 individuals with FMF (59% men) in a database of 1 244 350 adolescents (16–20 years of age) medically evaluated for military service between 1973 and 1997. This cohort was linked with the national mortality, cancer and end-stage renal disease (ESRD) registries in Israel. Study outcomes were all-cause mortality, occurrence of ESRD and malignancy by the age of 50 years. Results During 30 years of follow-up, death rates were 8.73/104 versus 4.32/104 person-years in the FMF and control groups, respectively (p=0.002). In a multivariable analysis adjusted for age, birth year, socio-economic status, education, ethnicity and body mass index, FMF was associated with increased mortality in men (HR=1.705 (95% CI 1.059 to 2.745), p=0.028) and women (HR=2.48 (1.032 to 5.992), p=0.042). Renal amyloidosis accounted for 35% and 60% of deaths in men and women, respectively. FMF was not associated with an increased incidence of cancer. Conclusions FMF is associated with increased all-cause mortality that is likely attributed to reduced colchicine compliance or responsiveness. Individuals with FMF do not have an increased incidence of cancer. These results support the awareness among medical community to decrease the higher than average mortality rate among participants with FMF.

Pharyngeal gonorrhea in female sex workers: Response to a single 2-g dose of azithromycin

Objectives: A sharp increase in the incidence of gonorrhea has been observed in Tel Aviv, Israel, since 1999. Almost one half of interviewed patients admitted contracting the infection from a sex worker. In two thirds of the cases, oral sex (fellatio) was the most probable route of acquiring the disease. In the current study, we assessed the prevalence of pharyngeal gonorrhea among sex workers in Tel Aviv and evaluated the efficacy of a single 2-g dose of azithromycin in eradicating the infection. Methods: Throat specimens were obtained for gonococcal culture from 301 female sex workers practicing in brothels. A questionnaire covering demographic and sexual behavior information was administered to all participants, and a single 2-g dose was administered orally under supervision. Women with positive cultures were reexamined a week later for eradication of Neisseria gonorrhoeae. Results: N gonorrhoeae was isolated from 27 women (9%). The median age of women with pharyngeal gonorrhea was 23 years (range, 18–32 years); 85% were born in former Soviet Union (mostly Russia, Ukraine, Moldavia). Regular condom use in vaginal sex was reported by 88% of the participants, whereas only 60% reported always using condoms in oral sex. All isolates were susceptible to azithromycin (MIC ≤0.5 &mgr;g/ml). Gonococci were eradicated in 20/21 individuals (95%). Conclusion: A high carriage rate of gonococci in the throat and a low rate of condom use in oral sex were documented among sex workers in Tel Aviv. A single 2 g dose of azithromycin was very effective in eradicating gonococci from the throat.