[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].

INTRODUCTION: Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT. AIMS: To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel. METHODS: In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center. Clinical evaluation for nephrocalcinosis with/without renal stones, elevated excretion of oxalate and glycolate in urine, and genetic workup were performed. Treatment included hemodialysis, and/or peritoneal dialysis. Some patients were directed to preemptive liver transplantation or to combined liver and kidney transplantation. Genetic counseling and prenatal diagnosis were conducted. RESULTS: Thirty-six patients, from newborns to adults in their 20's, were diagnosed with PH1. They represent 38.8% of patients in the pediatric-dialysis unit. The genetic variant in the AGXT gene causing their disease was identified. Nine prenatal diagnoses were performed, and a genetic screening program was implemented in four Druze villages in the Galilee and Golan Heights. CONCLUSIONS: PH1 is a prevalent disease among Druze and Muslim Arabs in northern Israel. Genetic diagnosis is the gold standard and enables early diagnosis and treatment. Genotype-phenotype correlations are complex. Population screening programs provide an important tool for prevention. DISCUSSION: The "genetic islands" of PH1 in northern Israel require a community-based medical approach for the prevention of the disease and the treatment of presymptomatic patients for better prognosis.

Perinatal depressive symptoms among Arab women in northern Israel.

Perinatal depression, a prevalent condition with negative consequences for the mother, infant and family, has been reported in many countries. This study aimed to assess the scope of depressive symptoms among pregnant and postnatal Israeli Arab women and to identify possible risk factors. Data were collected from a screening program at 58 Mother-Child Health Care clinics in northern Israel from June to December, 2009. Participants included 1,254 pregnant and 2,326 postnatal women. The rate of antenatal depressive symptoms, i.e., a score of ≥10 on the Edinburgh Postnatal Depression Scale (EPDS) was 20.8%. Women attending clinics with primarily religious or traditional populations had lower rates antenatally than did those described as secular. During the postnatal period 16.3% of the women scored ≥10 on the EPDS. The rate of postnatal depressive symptoms was significantly higher among women living in Moslem than Druze communities (EPDS ≥ 10: 19.0% vs. 13.4%, respectively, P = 0.01). Postnatally, there were no significant differences according to SES cluster, community size, or religious orientation. The rate of antenatal and postnatal depression among Arab women in northern Israel was somewhat higher than that of Jewish Israeli women in the same region, and considerably lower than that of Arab Bedouin women in southern Israel. Given the differences in their life styles and circumstances, health policy authorities should be informed regarding the needs of these various sub-populations.

Population screening in a Druze community: the challenge and the reward.

PURPOSE: The Druze community is characterized by consanguinity and endogamy, and by reluctance to genetic testing and technological interventions for the prevention of birth defects. Multiple patients with four rare and severe inborn errors of metabolism cerebrotendinous xanthomatosis, prolidase deficiency, argininosuccinate lyase deficiency, and carbamyl phosphate synthetase I deficiency were identified in an isolated Druze village in northern Israel. The aims of this study were to identify couples at risk for four inherited diseases, and to prevent birth defects in a community presenting religious and cultural obstacles to genetic testing. METHODS: A genetic screening and counseling program in a high-risk community. RESULTS: The 1425 residents who attended group genetic counseling sessions between 2003 and 2007 consented to genetic testing. We identified 217 carriers for either one or two disease causing mutations. High carrier frequencies for cerebrotendinous xanthomatosis, prolidase deficiency, argininosuccinate lyase deficiency, and carbamyl phosphate synthetase I deficiency were identified as 1:11, 1:21, 1:41, and 1:95, respectively. Fifty-eight percent (125) of the carriers' spouses agreed to genetic counseling and testing. Ten couples at risk for affected offspring were identified and offered prenatal genetic counseling and diagnosis. CONCLUSIONS: The genetic screening program, the first of its kind reported in a Druze community, was well received. We expect this program to increase awareness of genetic counseling, to contribute to disease prevention, and to serve as a model for other isolated communities.

Impact of early postnatal weight gain and feeding patterns on body mass index in adolescence.

Postnatal weight gain may predispose to the development of obesity during childhood. The aims of this study were to study the impact of weight gain during specific periods of the first year of life and of feeding patterns on the body mass index (BMI) of adolescents. Growth records during the first 24 months of life of 88 obese and 214 non-obese 12 year-old Arab children were evaluated. Birth weight and length were similar for obese and non-obese adolescents, while the rate of breastfeeding was significantly lower in the obese group (p < 0.01). Obese adolescents demonstrated a small yet significant accelerated weight gain at 4 (p = 0.002) and 12 (p = 0.01) months of age. Weight gain during the first 2 months of life and feeding pattern were independent predictors of BMI at the age of 12 years. Thus, early postnatal weight gain is associated with obesity in adolescence, while breastfeeding seems to have a protective effect.

Human milk beyond one year post-partum: lower content of protein, calcium, and saturated very long-chain fatty acids.

Maternal milk feeding for more than 1 year is encouraged by many health care authorities. We demonstrate that human milk beyond 1 year of lactation had a small but significantly lower concentration of protein, calcium, and long-chain saturated fatty acids compared with human milk at 3 months after delivery.

C7 complement deficiency in an Israeli Arab village.

Deficiencies of terminal complement components, particularly the latter ones, are often detected because of increased susceptibility to Neisserial infections. Herein we document the first report of C7 deficiency among a highly inbred Arab population living in the lower Galilee region of Israel. Both biochemical and molecular analysis were performed on samples from infected survivors and parents of children who succumbed to Neisserial infections in a 4-year period. Only the index case who suffered recurrent infections and a sibling who had not suffered an infection during the outbreak were found to be C7-deficient. The mutation was found to be the one previously described to be prevalent among Israeli Jews of Moroccan ancestry (mutation G1135C). The implications of this finding are discussed in the context of family pedigree, the protective effect of complement deficiency, and the clinical outcome.