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Adir Shaulov, Dvora Filon, Deborah Rund
α-Thalassemia (α-thal) is among the world's most common single gene disorders, generally attributed to a selective advantage of heterozygotes against malaria mortality. A high frequency of -α(3.7) deletion heterozygosity has been previously reported in Ashkenazi Jews despite lack of obvious malarial selection pressure in this population. Using haplotype and -α(3.7) subtype analysis we analyzed a subset of -α(3.7) homozygotes from various Israeli ethnic groups. We found a high frequency of the common Ia haplotype in Yemenite Jews and Arabs (54% and 13% respectively)...
October 19, 2016: European Journal of Medical Genetics
Miriam Ethel Bentwich, Nomy Dickman, Amitai Oberman
OBJECTIVES: To explore whether gaps exist between caretakers from different ethno-cultural groups (Israeli-born Jews [Sabras], Israeli Arabs [Arabs], and migrants from Russia [Russians]) regarding their perceptions of autonomy and human dignity of patients with dementia. DESIGN: A mixed-methods research scheme was used, comprised of qualitative and quantitative methods, utilizing semi-structured interviews and self-reported questionnaires. Twenty formal caretakers participated in the qualitative portion, and approximately 200 caretakers were included in the quantitative portion...
October 21, 2016: Ethnicity & Health
Leland Perice, Nir Barzilai, Joe Verghese, Erica F Weiss, Roee Holtzer, Pinchas Cohen, Sofiya Milman
Mutations that reduce somatotropic signaling result in improved lifespan and health-span in model organisms and humans. However, whether reduced circulating insulin-like growth factor-I (IGF-I) level is detrimental to cognitive and muscle function in older adults remains understudied. A cross-sectional analysis was performed in Ashkenazi Jews with exceptional longevity (age ≥95 years). Cognition was assessed using the Mini-Mental State Examination and muscle function with the chair rise test, grip-strength, and gait speed...
October 14, 2016: Aging
Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan Klugman, Nicole Schreiber-Agus
PURPOSE: The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers associated with implementing this screening in a clinical setting. METHODS: Interested AJ individuals were stratified into high-risk (HR) and low-risk (LR) groups based on self-reported cancer histories. Those at HR were offered traditional genetic counseling/testing; those at LR were offered group genetic counseling and subsidized AJ BRCA founder mutation testing...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Tom Konikoff, Tehila Avraham, Ella Ophir, Jacob Bornstein
BACKGROUND: Hyperemesis gravidarum (HG) is characterized by severe intractable nausea and vomiting in pregnancy leading to electrolyte imbalance, ketonuria, and weight loss. The cause is unknown. This study sought to investigate the prevalence and characteristics of HG in the Western Galilee in two ethnic populations and to estimate its economic burden. METHODS: Data on ethnicity, age, gestational age, number of pregnancies, and length of hospitalization were collected from the medical files of all women with HG admitted to the Galilee Medical Center in 2010-2013...
2016: Israel Journal of Health Policy Research
Alisia G T T Tran, Jeffrey S Mintert, Gilbert B Jew
This article utilizes moderated mediation analyses to explore whether the relations between parental ethnic-racial socialization (PERS) dimensions and social attitudes differ across ethnic-racial minority (n = 128) and White (n = 131) college-going emerging adults. We examined social dominance orientation (SDO) as an index of antiegalitarian intergroup attitudes and attitudes toward interpersonal harmony as an index of interpersonal attitudes. We tested whether there were ethnic-racial variations in mediation models in which each type of PERS dimension was expected to be linked to greater antiegalitarian attitudes (greater SDO), which, in turn, was predicted to be associated with less prosocial attitudes (lower harmony enhancement)...
August 15, 2016: American Journal of Orthopsychiatry
Nicholas B Jew, Anthony M Hollins, Benjamin M Mauck, Richard A Smith, Frederick M Azar, Robert H Miller, Thomas W Throckmorton
BACKGROUND: Two popular systems for classifying rheumatoid arthritis affecting the elbow are the Larsen and Sharp schemes. To our knowledge, no study has investigated the reliability of these 2 systems. We compared the intraobserver and interobserver agreement of the 2 systems to determine whether one is more reliable than the other. METHODS: The radiographs of 45 patients diagnosed with rheumatoid arthritis affecting the elbow were evaluated. Anteroposterior and lateral radiographs were deidentified and distributed to 6 evaluators (4 fellowship-trained upper extremity surgeons and 2 orthopedic trainees)...
October 7, 2016: Journal of Shoulder and Elbow Surgery
Tamara Shiner, Anat Mirelman, Mali Gana Weisz, Anat Bar-Shira, Elissa Ash, Ron Cialic, Naomi Nevler, Tanya Gurevich, Noa Bregman, Avi Orr-Urtreger, Nir Giladi
Importance: Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB). These mutations are common among Ashkenazi Jews (AJ) and appear to have an effect on the natural history of the disease. Objectives: To evaluate the clinical and genetic characteristics of an AJ cohort of patients diagnosed with DLB, assess the association of phenotype of DLB with GBA mutations, and explore the effects of these mutations on the clinical course of the disease...
October 10, 2016: JAMA Neurology
Baruch Wolach, Ronit Gavrieli, Martin de Boer, Karin van Leeuwen, Sivan Berger-Achituv, Tal Stauber, Josef Ben Ari, Menachem Rottem, Yechiel Schlesinger, Galia Grisaru-Soen, Omar Abuzaitoun, Nufar Marcus, Ben Zion Garty, Arnon Broides, Jakov Levy, Polina Stepansky, Amos Etzioni, Raz Somech, Dirk Roos
Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders patients susceptible to life-threatening infections. Over the course of 30 years, we diagnosed CGD in 84 patients from 61 families using functional, molecular and genetic studies. The incidence of CGD in Israel is 1.05 per 100,000 live-births in the Jewish population and 1...
October 4, 2016: American Journal of Hematology
Revital Abitbul, Israel Amirav, Hannah Blau, Soliman Alkrinawi, Micha Aviram, David Shoseyov, Lea Bentur, Avraham Avital, Chaim Springer, Moran Lavie, Dario Prais, Husein Dabbah, Nael Elias, Arnon Elizur, Shmuel Goldberg, Avigdor Hevroni, Eitan Kerem, Anthony Luder, Yehudah Roth, Malena Cohen-Cymberknoh, Marta Ben Ami, Avigdor Mandelberg, Galit Livnat, Elie Picard, Joseph Rivlin, Moshe Rotschild, Ruth Soferman, Niki T Loges, Heike Olbrich, Claudius Werner, Alexander Wolter, Martina Herting, Julia Wallmeier, Johanna Raidt, Heymut Omran, Huda Mussaffi
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described. AIMS: to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel. METHODS: A national multicenter study from 2012 to 2013 recruited patients diagnosed or suspected of having PCD. Diagnosis was verified using: nasal Nitric Oxide (nNO); High-speed Video Microscope Analysis (HVMA); Transmission Electron Microscopy (TEM) of cilia; Immuno-fluorescence staining (IF) for ciliary proteins, and genetic analysis...
October 2016: Respiratory Medicine
Martin Kuhar, Stella Fatović-Ferenčić
By analysing his unpublished and published works, we have identified anthropological elements in the studies of Croatian physician Fran Gundrum Oriovčanin (1856-1919) that distinguish him as one of the rare researchers in Croatia who attempted to synthesize cultural and biological anthropology. Gundrum collected comparative data on biological characteristics of various ethnic groups, searched for a connection between biological structures and cultural development, and assessed certain social facts and customs from the perspective of medical teleology...
November 2015: Acta Medico-historica Adriatica: AMHA
Khalaf Kridin, Shira Zelber-Sagi, Mogher Khamaisi, Arnon D Cohen, Reuven Bergman
BACKGROUND: The epidemiology of pemphigus in different ethnic populations exposed to similar environments is unknown. Trends in the incidence of pemphigus based on an immunopathologically validated cohort have not been investigated. OBJECTIVES: We sought to estimate the incidence of pemphigus in Israel and to investigate differences between the 2 major ethnic populations. METHODS: Pemphigus incidence was retrospectively estimated from January 2000 to December 2015 in 2 Israeli regions with a total population of 1...
November 2016: Journal of the American Academy of Dermatology
Roger Pamphlett, Stephen Kum Jew
Toxic heavy metals have been implicated in the loss of spinal motoneurons in amyotrophic lateral sclerosis/motor neuron disease (ALS/MND). Motoneuron loss in the spinal anterior horn is severe in ALS/MND at the time of death, making this tissue unsuitable for examination. We therefore examined spinal cords of people without muscle weakness to look for any presence of heavy metals that could make these neurons susceptible to damage. Spinal cord samples from 50 individuals aged 1-95 y who had no clinical or histopathological evidence of spinal motoneuron loss were studied...
2016: PloS One
Eric D Miller
This article offers an analytic, integrative review of select themes associated with one of history's greatest atrocities: the Holocaust. Much of this review considers general and Holocaust-specific themes as they pertain to the nature of senseless violence and evil. The importance of having a greater understanding of the sheer brutality of violence perpetuated in the Holocaust is emphasized. As part of this discussion, considerable attention is given to how Internet-based photographs and videos from the Holocaust era can provide greater insight into understanding the evil associated with this genocide...
September 1, 2016: Journal of Psychology
Anthony D Heymann, Giora Kaplan, Nurit Freidman, Orna Baron-Epel
OBJECTIVES: Social support is associated with improved adherence to treatment recommendations among patients with diabetes. This research examines negative dimensions of social support such as interference and insensitivity which may interfere with appropriate lifestyle choices. METHODS: A telephone survey in Israel of 764 patients with type 1 and type 2 diabetes was conducted to assess social support and unsupportive social interactions, and correlate them with self-reported current health status...
September 2016: American Journal of Health Behavior
Eran Elhaik
The debate as to whether Jewishness is a biological trait inherent from an "authentic" "Jewish type" (jüdische Typus) ancestor or a system of beliefs has been raging for over two centuries. While the accumulated biological and anthropological evidence support the latter argument, recent genetic findings, bolstered by the direct-to-consumer genetic industry, purport to identify Jews or quantify one's Jewishness from genomic data. To test the merit of claims that Jews and non-Jews are genetically distinguishable, we propose a benchmark where genomic data of Jews and non-Jews are hybridized over two generations and the observed and predicted Jewishness of the terminal offspring according to either the Orthodox religious law (Halacha) or the Israeli Law of Return are compared...
2016: Frontiers in Genetics
Shoshana Israel, Nicola Maggio, Dana Ekstein, Huda Zaid, Maria Firer, Yana Bederovsky, Iris Noyman, Revital Gandelman-Marton, Ilan Blatt, Chaim Brautbar, Eli Marom, Dorit Nahlieli Dil, Erez Berman, David Sabag, Arieh Ingber, Sara Eyal
The human leukocyte antigen (HLA) alleles B*15:02 and A*31:01 have been identified as predictive markers of adverse cutaneous effects of carbamazepine and phenytoin in Asian and North European populations, respectively. Our aim was to estimate the distribution of these alleles in Jewish and Arab populations in Israel. The HLA-B*15:02 and HLA-A*31:01 carrier rate was estimated based on data from the Hadassah Bone Marrow Registry. Data on Stevens-Johnson syndrome (SJS)- and toxic epidermal necrolysis (TEN)-related hospitalizations were obtained from the Israeli Ministry of Health (MOH) registries and from four Israeli medical centers...
October 2016: Epilepsia
Jinlong Jian, Shuai Zhao, Qing-Yun Tian, Helen Liu, Yunpeng Zhao, Wen-Chi Chen, Gabriele Grunig, Paola A Torres, Betty C Wang, Bai Zeng, Gregory Pastores, Wei Tang, Ying Sun, Gregory A Grabowski, Max Xiangtian Kong, Guilin Wang, Ying Chen, Fengxia Liang, Herman S Overkleeft, Rachel Saunders-Pullman, Gerald L Chan, Chuan-Ju Liu
BACKGROUND: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. METHODS: Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced, and the genotyping of 4 SNPs identified in GD patients was performed in 161 GD and 142 healthy control samples...
September 2016: EBioMedicine
Hoda Anton-Culver, Jenny Chang, Freddie Bray, Ariana Znaor, Lisa Stevens, Sultan Eser, Barbara Silverman, Omar Nimri, Pavlos Pavlou, Haris Charalambous, Anna Demetriou, Kevin Ward, Argyrios Ziogas
It is important that population-based cancer registries provide accurate and reliable data for public health purposes. These data are essential data for planning of cancer control and prevention. In this study, we examined cancer incidence rates (year 2005-2010) in four MECC registries (Cyprus, Jordan, Israel, Izmir (Turkey)) and compared with the rates in the US. The overall age-standardized incidence rates for males were highest in the US followed by Israeli Jews, Izmir (Turkey), Cyprus, Israeli Arabs, and lowest in Jordan...
October 2016: Cancer Epidemiology
Roy Zaltzman, Reuven Sharony, Colin Klein, Carlos R Gordon
Spinocerebellar ataxia type 3 is an autosomal dominant ataxia with various phenotypes affecting Jews of Yemenite origin in Israel. Clinical and family pedigrees data of 125 Yemenite Jewish patients were collected in our clinic. All examined patients underwent a detailed neurological and bedside vestibular examination. Cytosine-adenine-guanine repeats size in the Ataxin-3 gene was measured, and patients with expanded cytosine-adenine-guanine repeats >44 were diagnosed genetically as having spinocerebellar ataxia type 3...
November 2016: Journal of Neurology
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