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Kasirer Y.,Pediatric Gastroenterology and Nutrition Unit | Turner D.,Pediatric Gastroenterology and Nutrition Unit | Turner D.,Hebrew University of Jerusalem | Lerman L.,Pediatric Gastroenterology and Nutrition Unit | And 7 more authors.
Digestive Endoscopy | Year: 2014

Background Scalloping of duodenal folds noted on esophagogastroduodenoscopy (EGD) has been associated with various illnesses including celiac disease (CD). The aim of the present study was to examine the frequency of scalloping in pediatric patients undergoing EGD and to assess its significance in the diagnosis of CD. We also evaluated the association of scalloping with the histopathology and celiac serology in the subgroup of celiac patients. Patients and Methods All children (0-18 years) who underwent EGD at Shaare Zedek Medical Center for any reason during a 2.5-year period were retrospectively included, yielding a consecutive cohort without selection bias. Relevant data were obtained from the patient files. Results During the study period, 623 children underwent EGD of whom 149 (24%) were eventually diagnosed with CD. In 74/623children (12%), scalloping was seen and had a sensitivity of 48% (95% CI 0.40-0.57), specificity of 99% (0.98-0.99) and positive predictive value of 97% (0.9-0.99) to diagnose CD. The prevalence of scalloping increased with advancing stage of the Marsh classification from 33% (7/21) in Marsh 1 to 63% (34/54) in Marsh 3c (P < 0.001). Scalloping was associated with a significantly higher median tissue transglutaminase level (153 [IQR 98-168] versus 49 [IQR 11-143]; P = 0.011). Conclusion The results suggest that the diagnosis of CD is almost certain if isolated scalloping is observed during EGD done to rule out CD. Thus, attention to this finding may serve as an additional tool in the diagnosis of CD. © 2013 Japan Gastroenterological Endoscopy Society.

Levy-Shraga Y.,Pediatric Endocrinology Unit | Levy-Shraga Y.,Tel Aviv University | Cohen R.,Meuhedet Health Services | Ami M.B.,Pediatric Endocrinology Unit | And 6 more authors.
PLoS ONE | Year: 2015

Background Survivors of childhood cancer are at high risk for developing non-melanoma skin cancer and therefore are firmly advised to avoid or minimize sun exposure and adopt skin protection measures. We aimed to compare sun exposure and protection habits in a cohort of pediatric patients with a history of malignancy to those of healthy controls. Methods Case-control study of 143 pediatric patients with a history of malignancy (aged 11.2±4.6y, Male = 68, mean interval from diagnosis 4.4±3.8y) and 150 healthy controls (aged 10.4 ±4.8y, Male = 67). Sun exposure and protection habits were assessed using validated questionnaires. Results Patients and controls reported similar sun exposure time during weekdays (94±82minutes/ day vs. 81±65minutes/day; p = 0.83), while during weekends patients spent significantly less time outside compared to controls (103±85minutes/day vs. 124±87minutes/day; p = 0.02). Time elapsed from diagnosis positively correlated with time spent outside both during weekdays (r = 0.194, p = 0.02) and weekends (r = 0.217, p = 0.01), and there was a step-up in sun exposure starting three years after diagnosis. There was no significant difference regarding composite sun protection score between patients and controls. Age was positively correlated with number of sunburns per year and sun exposure for the purpose of tanning, and was negatively correlated with the use of sun protection measures. Conclusions Although childhood cancer survivors are firmly instructed to adopt sun protection habits, the adherence to these instructions is incomplete, and more attention should be paid to improve these habits throughout their lives. Since sunlight avoidance may results in Vitamin D deficiency, dietary supplementation will likely be needed. Copyright:© 2015 Levy-Shraga et al.

Hoffman R.D.,Maccabi Health Services | Hoffman R.D.,Tel Aviv University | Golan R.,Meuhedet Health Services | Vinker S.,Leumit Health Services | Vinker S.,Tel Aviv University
Israel Journal of Health Policy Research | Year: 2016

Background: It has become clear in recent years that a healthy lifestyle, including physical exercise is crucial for health maintenance. Nevertheless, most people do not exercise regularly. Physician intervention is beneficial in increasing patient exercise. In Israel, the 1994 "Sports Law" regarding exercising in a gymnasium requires a physician's written authorization, but does not direct the physicians what they should ascertain before issuing the certificate. This pre-exercise certificate has been widely discussed in Israel over the last year as the law is to be revised to enable using a modification of the PAR-Q+ (Physical Activity Readiness questionnaire) patient questionnaire as a screening tool. This will leave the requirement for a pre-exercise certificate for a less healthy population, yet without clear instructions to the primary care physician on criteria for ascertaining fitness. Our aim was to evaluate how primary care physicians deal with the ambiguity of defining health criteria for issuing exercise authorization/certificate. Methods: We used an anonymous ten-item attitude/knowledge multiple choice questionnaire with an additional 13 personal/education and employment questions. We assessed each potential predictor of physician attitude and knowledge in univariate models. Results: 135 useable questionnaires were collected. Of these, 43.7% of the doctors will provide the pre-exercise certificate to all their patients; 63% were aware of their HMO/employers guidelines for issuing certificates; 62% stated they complied with these guidelines, and 16% stated they did not follow them. In addition, 70% of the physicians reported regular exercise themselves, an average of 4.12h/week. These physicians tended to provide the pre-exercise certificate to all patients unconditionally, as compared to physicians that did not exercise regularly. (46% vs. 14.5%, p<0.01) Conclusions: Most Israeli primary care physicians will provide the required certificate allowing their patients to exercise in the gym. There is a wide variation as to what physicians check before providing the certificate. The modification of the law has made the need for standardization of the nature of what is expected of primary care physicians more urgent. A large portion of physicians exercise on a regular basis - and exercising physicians are more positive regarding pre-exercise certificates. Our study clearly shows a gap in knowledge transfer; and we call for a standardized approach to pre-exercise certificates utilizing computerized patient medical files. © 2016 Hoffman et al.

Edvardson S.,Hebrew University of Jerusalem | Porcelli V.,University of Bari | Jalas C.,Center for Rare Jewish Genetic Disorders | Soiferman D.,Hebrew University of Jerusalem | And 14 more authors.
Journal of Medical Genetics | Year: 2013

Background: Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic nerve hypoplasia. Methods and results: A mitochondrial disease was suspected in this patient based on the prominent excretion of 2-hydroxyglutaric acid and Krebs cycle intermediates in urine and the finding of increased reactive oxygen species content and decreased mitochondrial membrane potential in her fibroblasts. Whole exome sequencing disclosed compound heterozygosity for two pathogenic variants in the SLC25A1 gene, encoding the mitochondrial citrate transporter. These variants, G130D and R282H, segregated in the family and were extremely rare in controls. The mutated residues were highly conserved throughout evolution and in silico modeling investigations indicated that the mutations would have a deleterious effect on protein function, affecting either substrate binding to the transporter or its translocation mechanism. These predictions were validated by the observation that a yeast strain harbouring the mutations at equivalent positions in the orthologous protein exhibited a growth defect under stress conditions and by the loss of activity of citrate transport by the mutated proteins reconstituted into liposomes. Conclusions: We report for the first time a patient with a mitochondrial citrate carrier deficiency. Our data support a role for citric acid cycle defects in agenesis of corpus callosum as already reported in patients with aconitase or fumarate hydratase deficiency.

Moshe G.,Bar - Ilan University | Amitai Y.,Bar - Ilan University | Korchia G.,Meuhedet Health Services | Korchia L.,Hadassah University Mt Scopus | And 3 more authors.
Journal of Pediatric Gastroenterology and Nutrition | Year: 2013

OBJECTIVE:: The aim of this study was to study the relative contribution of dietary sources of iron in children with high prevalence of anemia and iron deficiency (ID). METHODS:: A cross-sectional study in 263 healthy, 1.5- to 6-year-old children in the Jewish sector of Jerusalem, Israel. Venous blood samples and a qualitative Food Frequency Questionnaire on iron-rich foods were obtained. Anemia was defined as hemoglobin <11 g/dL for children younger than 4 years and <11.5 g/dL for children older than 4 years; ID was defined as ferritin <12 μg/L. RESULTS:: Anemia was found in 11.2%, ID in 22%, and iron-deficiency anemia in 3.7%. The prevalence of anemia was higher in toddlers ages 1.5 to 3 years compared with children ages 3 to 6 years (17.7% vs 7.3%, P = 0.01). Children with extremely low red meat consumption (seldom) had 4-fold higher rates of ID than those who consumed ≥2 times per week (odds ratio 3.98; 95% confidence interval 1.21-13.03; P = 0.023), whereas poultry consumption was not associated with ID. Soy consumption was inversely associated with ferritin (marginally significant, r =  -0.134, P = 0.057). CONCLUSIONS:: The high prevalence of anemia and ID found in this study, mainly in children 1.5 to 3 years old, is related to low red meat consumption. The characteristically high poultry consumption in the Israeli population was not protective. The shift toward reduced red meat consumption and higher poultry consumption in developed countries may result in increasing the risk of ID. Copyright © 2013 by European Society for Pediatric Gastroenterology.

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