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https://www.readbyqxmd.com/read/28302154/the-israeli-national-genetic-database-a-10-year-experience
#1
Joël Zlotogora, George P Patrinos
BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources...
March 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28286643/a-national-survey-of-ethnic-differences-in-knowledge-and-understanding-of-supplementary-health-insurance
#2
Manfred S Green, Samah Hayek, Jalal Tarabeia, Mohammad Yehia, Neta HaGani
BACKGROUND: Knowledge and understanding of what health insurance covers is an important public health issue. In Israel, whereas national health insurance covers all residents, optional supplemental health insurance (SHI) can be purchased from the healthcare providers, for additional, special services. The purpose of this study was to identify disparities between Jews and Arabs in their knowledge and understanding of SHI. METHODS: National, cross-sectional, telephone survey using a structured questionnaire, among random samples of 814 Jews and 800 Arabs...
2017: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/28282731/profile-and-burden-of-care-among-caregivers-of-ultra-orthodox-frail-elders
#3
Offer E Edelstein, Tova Band-Winterstein, Yaacov G Bachner
OBJECTIVE: A paucity of research exists on burden of care (BoC) and factors associated with it among minority groups, such as Ultra-Orthodox Jews. The aims of this study were (1) to portray the profile of Ultra-Orthodox Jewish (UOJ) caregivers and their BoC; (2) to explore relations between care recipients' characteristics, care situations, characteristics of caregivers, and BoC. METHODS: A total of 107 UOJ (66 women, 41 men) family caregivers were interviewed face to face in their homes, using valid and reliable measures...
February 16, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/28268221/cross-cultural-validity-in-self-reported-alcohol-use
#4
Sharon R Sznitman, Shiran Bord, Wafa Elias, Anat Gesser-Edelsburg, Yoram Shiftan, Orna Baron-Epel
BACKGROUND AND AIM: Little evidence is available on whether respondents from divergent sociocultural populations report alcohol consumption in systematically similar ways. Therefore, this study examined whether the validity of self-reported alcohol use differed between Arab and Jewish Israeli pub patrons. METHODS: The analytical sample consisted of 227 Arab and 900 Jewish Israeli pub patrons who were approached as they left pubs and asked to record their Breath Alcohol Content (BrAC) value and complete a questionnaire that probed into their alcohol use...
March 8, 2017: European Addiction Research
https://www.readbyqxmd.com/read/28251872/phylogeography-of-human-y-chromosome-haplogroup-q3-l275-from-an-academic-citizen-science-collaboration
#5
Oleg Balanovsky, Vladimir Gurianov, Valery Zaporozhchenko, Olga Balaganskaya, Vadim Urasin, Maxat Zhabagin, Viola Grugni, Rebekah Canada, Nadia Al-Zahery, Alessandro Raveane, Shao-Qing Wen, Shi Yan, Xianpin Wang, Pierre Zalloua, Abdullah Marafi, Sergey Koshel, Ornella Semino, Chris Tyler-Smith, Elena Balanovska
BACKGROUND: The Y-chromosome haplogroup Q has three major branches: Q1, Q2, and Q3. Q1 is found in both Asia and the Americas where it accounts for about 90% of indigenous Native American Y-chromosomes; Q2 is found in North and Central Asia; but little is known about the third branch, Q3, also named Q1b-L275. Here, we combined the efforts of population geneticists and genetic genealogists to use the potential of full Y-chromosome sequencing for reconstructing haplogroup Q3 phylogeography and suggest possible linkages to events in population history...
February 7, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28243759/did-king-herod-suffer-from-a-rheumatic-disease
#6
Cianna Leatherwood, Richard S Panush
Herod the Great was appointed "king of Jews," to govern Judea, by the Roman Emperor and Senate. He lived from 73/74 BCE to 4 CE. He died with an illness and symptoms that have been the source of considerable speculation. Richard Strauss depicted Herod in his classic opera, "Salome." That opera was derived from a play of the same name by Oscar Wilde, which was based on an 1876 painting, "Salome Dancing Before Herod," by Gustave Moreau. The operatic Herod was afflicted with an illness characterized by dementia, hallucinations, paranoia, alcoholism (from drinking the Emperor's wine), violence, twitches, and sterility; different interpretations showed him also with falls, chills, shaking, thirst, forgetfulness, and sleepiness, for which we suggest the novel diagnosis of chronic lead intoxication (which can manifest to rheumatologists as saturnine gout)...
February 27, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28242209/features-of-patients-with-hereditary-mixed-polyposis-syndrome-caused-by-duplication-of-grem1-and-implications-for-screening-and-surveillance
#7
S Lieberman, T Walsh, M Schechter, T Adar, E Goldin, R Beeri, N Sharon, H Baris, L Ben Avi, E Half, I Lerer, B H Shirts, C C Pritchard, I Tomlinson, M C King, E Levy-Lahad, T Peretz, Y Goldberg
Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer...
February 24, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#8
REVIEW
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G Berger
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells...
February 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28217042/minority-population-group-status-and-qol-change-the-case-of-older-israelis
#9
Noam Damri, Howard Litwin
This study explores minority group status in relation to change in Quality of Life (QOL) among three population groups in Israel-Veteran Jews, Arab-Israelis and immigrants from the Former Soviet Union (FSU)-controlling for a set of known predictors. The study uses panel data from two waves (2009/10 and 2013) of the Israeli component of the Survey of Health, Ageing and Retirement in Europe, (N=1,590). A set of Ordinary Least Squares regressions is used to predict positive QOL change over the two waves. Interaction terms in a number of selected areas are considered...
December 2016: European Journal of Ageing
https://www.readbyqxmd.com/read/28202144/ethnic-and-gender-earning-gaps-in-a-liberalized-economy-the-case-of-israel
#10
Benjamin Bental, Vered Kraus, Yuval Yonay
During the 1990s and the 2000s Israel, a country ethnically divided into a dominant Jewish majority and a disadvantaged mostly Muslim Palestinian minority, underwent a transition from a heavily regulated to a neo-liberal economy. This paper makes use of the Israeli case to shed light on the effect of liberalization on earning gaps in the public and private sectors across dominant and disadvantaged population groups. The data, drawn from the 1995 and 2008 censuses-years that encompass the transition period, enable a dynamic investigation of the liberalization process by comparing labor market outcomes for Israeli Jews and Muslims of both genders working in the public or private sector...
March 2017: Social Science Research
https://www.readbyqxmd.com/read/28196110/ethnic-variation-in-medical-and-lifestyle-risk-factors-for-b-cell-non-hodgkin-lymphoma-a-case-control-study-among-israelis-and-palestinians
#11
Geffen Kleinstern, Rania Abu Seir, Riki Perlman, Areej Khatib, Ziad Abdeen, Husein Elyan, Ronit Nirel, Gail Amir, Asad Ramlawi, Fouad Sabatin, Paolo Boffetta, Eldad J Dann, Meirav Kedmi, Martin Ellis, Arnon Nagler, Dina Ben Yehuda, Ora Paltiel
BACKGROUND: Risk factors for B-cell non-Hodgkin lymphoma (B-NHL) have not been assessed among Palestinian Arabs (PA) and Israeli Jews (IJ). METHODS: In a case-control study we investigated self-reported medical and lifestyle exposures, reporting odds ratios (ORs) and 95% confidence intervals [CIs], by ethnicity, for overall B-NHL and subtypes. RESULTS: We recruited 823 cases and 808 healthy controls. Among 307 PA/516 IJ B-NHL cases (mean age at diagnosis = 51 [±17] versus 60 [±15] years, respectively) subtype distributions differed, with diffuse large B-cell lymphoma (DLBCL) being prominent among PA (71%) compared to IJ (41%); follicular lymphoma (FL), was observed in 14% versus 28%, and marginal zone lymphoma, in 2% versus 14%, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28190937/belonging-and-unbelonging-jewish-refugee-and-survivor-women-in-1950s-britain
#12
Angela Davis
This article analyses the life stories of female Jewish refugees and survivors in 1950s Britain in order to explore their relationship with the existing Jewish community and wider society. The paper is based on an analysis of twenty-one oral history testimonies from the Jewish survivors of the Holocaust collection held at the British library. Around 50,000 Jewish refugees from Central Europe came to Britain in the 1930s after fleeing from Hitler. In addition, a relatively small number of camp survivors and former hidden children settled in the country after the war; the Board of Deputies of British Jews Demographic Unit estimates the figure at 2000...
January 2, 2017: Women's History Review
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#13
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#14
Deborah Elstein, Gheona Altarescu, Aya Abrahamov, Ari Zimran
Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born since 01/01/2000 are AJ with non-neuronopathic GD: 28 (50.9%) are N370S/N370S; 24 (43.6%) are N370S/other; 3 (3...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28178444/remembering-eliahu-de-luna-montalto-1567-1616
#15
George M Weisz, Donatella Lippi
Born in Portugal and the son of Marranos (Christianized Jews from Spain), Eliahu de Luna Montalto lived during a particularly harsh period for the Jewish people. Throughout Europe, the situation for Jews was unfavorable; laws had been passed forbidding them to live in England for the past 300 years, and for the past 200 years in France. Additionally, in France, while Jews were permitted to study at some universities, the practice of medicine was forbidden to them. It is within this context that Eliahu de Luna Montalto, who had returned to his original faith (Judaism), was recruited to the French court...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28177940/emergency-department-pain-management-in-children-with-appendicitis-in-a-bi-ethnic-population
#16
Ron Jacob, Baruch Krauss, Gal Twito, Ronit Leiba, Itai Shavit
OBJECTIVES: Our goal was to examine factors associated with the administration of ED analgesia (any analgesia, opioid analgesia) in patients with acute appendicitis in a tertiary children's hospital in Israel, and to examine ethnic differences. METHODS: A retrospective cohort study of children evaluated in the ED, who had ICD-9 diagnosis of acute appendicitis. Regression analysis was used to test the effect of multiple variables on the provision of analgesia. Medications were administered according to a nurse-driven pain protocol...
February 7, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#17
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 262,399 individuals with no known indication or increased probability of SLOS carrier status, primarily US-based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28163689/spontaneous-movements-of-a-computer-mouse-reveal-egoism-and-in-group-favoritism
#18
Norbert Maliszewski, Łukasz Wojciechowski, Hubert Suszek
The purpose of the project was to assess whether the first spontaneous movements of a computer mouse, when making an assessment on a scale presented on the screen, may express a respondent's implicit attitudes. In Study 1, the altruistic behaviors of 66 students were assessed. The students were led to believe that the task they were performing was also being performed by another person and they were asked to distribute earnings between themselves and the partner. The participants performed the tasks under conditions with and without distractors...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28160324/molecular-diagnosis-of-%C3%AE-thalassemia-in-a-multi-ethnic-population
#19
Oded Gilad, Orna Steinberg Shemer, Michal Nevo, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Ron Rabinowicz, Nofar Amitai, Shifra Ben-Dor, Isaac Yaniv, Joanne Yacobovich, Hannah Tamary
OBJECTIVE: α-Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α-globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α-thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of genetic analyses of DNA samples referred to our laboratory for the molecular diagnosis of α-thalassemia, along with a detailed clinical description...
February 3, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28159024/excess-long-term-mortality-among-hospital-survivors-of-acute-myocardial-infarction-soroka-acute-myocardial-infarction-sami-project
#20
Y Plakht, H Gilutz, A Shiyovich
OBJECTIVES: We evaluated long-term survival after acute myocardial infarction (AMI) in unselected 'real life' patients according to the various risk groups, and it's persistence with time after AMI as compared with the matched general population. STUDY DESIGN: Retrospective study. METHODS: Data were collected from 2671 AMI hospital survivors (tertiary medical centre in Israel), which included demographics, clinical characteristics of AMI, comorbidities, interventions and test results...
February 2017: Public Health
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