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https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
February 10, 2017: Neurology
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28158733/health-benefits-and-evaluation-of-healthcare-cost-savings-if-oils-rich-in-monounsaturated-fatty-acids-were-substituted-for-conventional-dietary-oils-in-the-united-states
#14
Mohammad M H Abdullah, Stephanie Jew, Peter J H Jones
No abstract text is available yet for this article.
February 1, 2017: Nutrition Reviews
https://www.readbyqxmd.com/read/28148338/psychological-correlates-of-civilian-preparedness-for-conflicts
#15
Moran Bodas, Maya Siman-Tov, Shulamith Kreitler, Kobi Peleg
OBJECTIVES: Preparedness for emergencies and disasters is imperative for public resilience. Previous studies have revealed low levels of civilian preparedness for conflicts. Classic behavioral models prove inapt in describing preparedness patterns in victimized populations chronically exposed to this threat. In an effort to expand this perspective, we hypothesized that other psychological constructs are correlated with preparedness. METHODS: A cross-sectional, Internet-based study was performed in Israel in early 2016...
February 2, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/28145558/influence-of-a-pulsed-co2-laser-operating-at-9-4%C3%A2-%C3%A2-%C3%AE-m-on-the-surface-morphology-reflectivity-and-acid-resistance-of-dental-enamel-below-the-threshold-for-melting
#16
Jin Wan Kim, Raymond Lee, Kenneth H Chan, Jamison M Jew, Daniel Fried
No abstract text is available yet for this article.
February 1, 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/28130426/genetic-analysis-of-ten-pedigrees-with-inherited-retinal-degeneration-ird-by-exome-sequencing-and-phenotype-genotype-association
#17
Pooja Biswas, Jacque L Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, Luis Gabriel, Jonathan H Lin, Guilio Barteselli, Mili Navani, John J Suk, Michelle Parke, Catherine Schlechter, Richard Weleber, John R Heckenlively, Gislin Dagnelie, Pauline Lee, S Amer Riazuddin, Radha Ayyagari
PURPOSE: To identify causative mutations and characterize the phenotype associated with the genotype in ten unrelated families with autosomal recessive retinal degeneration. METHODS: Ophthalmic evaluation and DNA isolation was carried out in 10 pedigrees with IRD. Exomes of probands from 8 pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was performed on Illumina HiSeq. The DHDDS gene was screened for mutations in the remaining two pedigrees with Ashkenazi Jews ancestry...
January 27, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28121534/a-strategy-for-identifying-and-disseminating-best-practice-innovations-in-the-care-of-patients-with-multiple-chronic-conditions-or-end-of-life-care-needs
#18
Daphna Gans, David A Ganz, Wendy Senelick, Heather E Mccreath, Jessica Jew, Dan Osterweil, Romilla A Batra, Zaldy Tan, Lee A Jennings, David B Reuben
Patients with multiple chronic conditions and those with end-of-life care needs experience high health care costs and needs for skilled coordination and well-trained staff. Focusing on these populations presents an opportunity to improve the patient experience toward the goal of more patient-centered care and reduced costs. Although innovative programs that provide better care to these patient populations have been developed, these innovations are often localized and not actively disseminated to other settings...
July 2016: Managed Care
https://www.readbyqxmd.com/read/28049106/linking-uterine-serous-carcinoma-to-brca1-2-associated-cancer-syndrome-a-meta-analysis-and-case-report
#19
REVIEW
M M de Jonge, A L Mooyaart, M P G Vreeswijk, C D de Kroon, T van Wezel, C J van Asperen, V T H B M Smit, O M Dekkers, T Bosse
BACKGROUND: Uterine serous carcinoma (USC) shows greater morphological, clinical and molecular similarities to high-grade ovarian tubal serous carcinoma than to other types of endometrial cancer. As high-grade ovarian tubal serous carcinoma is known to be associated with BRCA1/2 pathogenic germline mutations (PMs), we aimed to explore whether USC is also a constituent of hereditary breast and ovarian cancer syndrome. METHODS: Pubmed, EMBASE and Web of Science were searched in July 2016 for articles assessing the association between USC and germline BRCA1/2-PMs...
December 31, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/28027459/dignity-and-autonomy-in-the-care-for-patients-with-dementia-differences-among-formal-caretakers-of-varied-cultural-backgrounds-and-their-meaning
#20
Miriam Ethel Bentwich, Nomy Dickman, Amitai Oberman
BACKGROUND: A key message in the World Health Organization report on dementia (2012) emphasizes this disease as a top priority in public health and the need to improve professional attitudes to patients with dementia, while acknowledging that the workforce in dementia care is becoming increasingly diverse culturally. AIMS: To trace whether there are substantial gaps between formal caretakers from different cultural groups (Israeli born Jews [Sabras], Israeli Arabs [Arabs] and migrants from Russia [Russians]) regarding their stances on the human dignity and autonomy of patients with dementia, as well as understand the meaning of these gaps...
December 8, 2016: Archives of Gerontology and Geriatrics
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