Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

PubMed Central

Dillenburg, Crisle Vignol; Bandeira, Isabel Cristina; Tubino, Taiana Valente; Rossato, Luciana Grazziotin; Dias, Eleonora Souza; Bittelbrunn, Ana Cristina; Leistner-Segal, Sandra

2012-01-01

Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a “bottleneck”, which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations. PMID:23055798

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.

PubMed

Dillenburg, Crisle Vignol; Bandeira, Isabel Cristina; Tubino, Taiana Valente; Rossato, Luciana Grazziotin; Dias, Eleonora Souza; Bittelbrunn, Ana Cristina; Leistner-Segal, Sandra

2012-07-01

Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck", which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

PubMed

Oddoux, C; Guillen-Navarro, E; Ditivoli, C; Dicave, E; Cilio, M R; Clayton, C M; Nelson, H; Sarafoglou, K; McCain, N; Peretz, H; Seligsohn, U; Luzzatto, L; Nafa, K; Nardi, M; Karpatkin, M; Aksentijevich, I; Kastner, D; Axelrod, F; Ostrer, H

1999-12-01

The Roman Jewish community has been historically continuous in Rome since pre-Christian times and may have been progenitor to the Ashkenazi Jewish community. Despite a history of endogamy over the past 2000 yr, the historical record suggests that there was admixture with Ashkenazi and Sephardic Jews during the Middle Ages. To determine whether Roman and Ashkenazi Jews shared common signature mutations, we tested a group of 107 Roman Jews, representing 176 haploid sets of chromosomes. No mutations were found for Bloom syndrome, BRCA1, BRCA2, Canavan disease, Fanconi anemia complementation group C, or Tay-Sachs disease. Two unrelated individuals were positive for the 3849 + 10C->T cystic fibrosis mutation; one carried the N370S Gaucher disease mutation, and one carried the connexin 26 167delT mutation. Each of these was shown to be associated with the same haplotype of tightly linked microsatellite markers as that found among Ashkenazi Jews. In addition, 14 individuals had mutations in the familial Mediterranean fever gene and three unrelated individuals carried the factor XI type III mutation previously observed exclusively among Ashkenazi Jews. These findings suggest that the Gaucher, connexin 26, and familial Mediterranean fever mutations are over 2000 yr old, that the cystic fibrosis 3849 + 10kb C->T and factor XI type III mutations had a common origin in Ashkenazi and Roman Jews, and that other mutations prevalent among Ashkenazi Jews are of more recent origin.

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.

PubMed

Colombo, R

2000-02-01

The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes.

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.

PubMed

Patel, Shreeya; Legood, Rosa; Evans, D Gareth; Turnbull, Clare; Antoniou, Antonis C; Menon, Usha; Jacobs, Ian; Manchanda, Ranjit

2018-04-01

Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost effective compared with family history based testing in Ashkenazi Jewish women. However, only 1 of the 3 Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG[c.68_69delAG]), 5382insC[c.5266dupC]), and 6174delT[c.5946delT]) is found in the Sephardi Jewish population (185delAG[c.68_69delAG]), and the overall prevalence of BRCA mutations in the Sephardi Jewish population is accordingly lower (0.7% compared with 2.5% in the Ashkenazi Jewish population). Cost-effectiveness analyses of BRCA testing have not previously been performed at these lower BRCA prevalence levels seen in the Sephardi Jewish population. Here we present a cost-effectiveness analysis for UK and US populations comparing population testing with clinical criteria/family history-based testing in Sephardi Jewish women. A Markov model was built comparing the lifetime costs and effects of population-based BRCA1 testing, with testing using family history-based clinical criteria in Sephardi Jewish women aged ≥30 years. BRCA1 carriers identified were offered magnetic resonance imaging/mammograms and risk-reducing surgery. Costs are reported at 2015 prices. Outcomes include breast cancer, ovarian cancer, and excess deaths from heart disease. All costs and outcomes are discounted at 3.5%. The time horizon is lifetime, and perspective is payer. The incremental cost-effectiveness ratio per quality-adjusted life-year was calculated. Parameter uncertainty was evaluated through 1-way and probabilistic sensitivity analysis. Population testing resulted in gain in life expectancy of 12 months (quality-adjusted life-year = 1.00). The baseline discounted incremental cost-effectiveness ratio for UK population-based testing was £67.04/quality-adjusted life-year and for US population was $308.42/quality-adjusted life-year. Results were robust in the 1-way sensitivity analysis. The probabilistic sensitivity analysis showed 100% of simulations were cost effective at £20,000/quality-adjusted life-year UK and the $100,000/quality-adjusted life-year US willingness-to-pay thresholds. Scenario analysis showed that population testing remains cost effective in UK and US populations, even if premenopausal oophorectomy does not reduce breast cancer risk or if hormone replacement therapy compliance is nil. Population-based BRCA1 testing is highly cost effective compared with clinical criteria-driven approach in Sephardi Jewish women. This supports changing the paradigm to population-based BRCA testing in the Jewish population, regardless of Ashkenazi/Sephardi ancestry. Copyright © 2017 Elsevier Inc. All rights reserved.

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.

PubMed

Bressman, S B; de Leon, D; Kramer, P L; Ozelius, L J; Brin, M F; Greene, P E; Fahn, S; Breakefield, X O; Risch, N J

1994-11-01

A gene (DYT1) for idiopathic torsion dystonia maps to chromosome 9q34 in Ashkenazi Jewish families with early onset of symptoms. Further, there is linkage disequilibrium between DYT1 and a particular haplotype of alleles at 9q34 loci in this population. This implies that a large proportion of early-onset idiopathic torsion dystonia in Ashkenazi Jews is due to a founder mutation in DYT1. To characterize the phenotypic range of this mutation, we studied 174 Ashkenazi Jewish individuals affected with idiopathic torsion dystonia. We used GT(n) markers on chromosome 9q34 (D9S62, D9S63, and ASS) and classified individuals as having ("carriers"), not having ("noncarriers"), or being ambiguous with respect to a DYT1-associated haplotype. We assessed clinical features and found marked clinical differences between haplotype carriers and noncarriers. There were 90 carriers, 70 noncarriers, and 14 ambiguous individuals. The mean age at onset of symptoms was significantly lower in carriers than in noncarriers (12.5 +/- 8.2 vs 36.5 +/- 16.4 years). In 94% of carriers, symptoms began in a limb (arm or leg equally); rarely the disorder started in the neck (3.3%) or larynx (2.2%). In contrast, the neck, larynx, and other cranial muscles were the sites of onset in 79% of noncarriers; onset in the arms occurred in 21% and onset in the legs never occurred. Limb onset, leg involvement in the course of disease, and age at onset distinguished haplotype carriers from noncarriers with 90% accuracy. In conclusion, there are clinical differences between Ashkenazi Jewish individuals with idiopathic torsion dystonia who do or do not have a unique DYT1 mutation, as determined by a DYT1-associated haplotype of 9q34 alleles.(ABSTRACT TRUNCATED AT 250 WORDS)

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

PubMed

Webb, B D; Brandt, T; Liu, L; Jalas, C; Liao, J; Fedick, A; Linderman, M D; Diaz, G A; Kornreich, R; Trachtman, H; Mehta, L; Edelmann, L

2014-08-01

Alport syndrome is an inherited progressive nephropathy arising from mutations in the type IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include sensorineural hearing loss and ocular lesions. We determined the molecular basis of Alport syndrome in a non-consanguineous Ashkenazi Jewish family with multiple affected females using linkage analysis and next generation sequencing. We identified a homozygous COL4A3 mutation, c.40_63del, in affected individuals with mutant alleles inherited from each parent on partially conserved haplotypes. Large-scale population screening of 2017 unrelated Ashkenazi Jewish samples revealed a carrier frequency of 1 in 183 indicating that COL4A3 c.40_63del is a founder mutation which may be a common cause of Alport syndrome in this population. Additionally, we determined that heterozygous mutation carriers in this family do not meet criteria for a diagnosis of Thin Basement Membrane Nephropathy and concluded that carriers of c.40_63del are not likely to develop benign familial hematuria. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shoshani, T.; Bashan, N.; Seret, H.

1992-01-01

Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient populations carry the major CF mutation ({Delta}F508). Since different Jewish ethnic groups tended to live as closed isolates until recent times, high frequencies of specific mutations are expected among the remainder cystic fibrosis chromosomes of these ethnic groups. Genetic factors appear to influence the severity of the disease. It is therefore expected that different mutations will be associated with either severe or mild phenotype. Direct genomic sequencing of exons included in the two nucleotide-binding folds of the putative CFTR protein was performed on 119 Israeli cysticmore » fibrosis patients from 97 families. One sequence alteration which is expected to create a termination at residue 1282 (W1282X) was found in 63 chromosomes. Of 95 chromosomes, 57(60%) are of Ashkenazi origin. In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel. This nonsense mutation is associated with presentation of severe disease.« less

Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data

PubMed Central

Colombo, Roberto

2000-01-01

Summary The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes. PMID:10677327

Identification of population substructure among Jews using STR markers and dependence on reference populations included

PubMed Central

2010-01-01

Background Detecting population substructure is a critical issue for association studies of health behaviors and other traits. Whether inherent in the population or an artifact of marker choice, determining aspects of a population's genetic history as potential sources of substructure can aid in design of future genetic studies. Jewish populations, among which association studies are often conducted, have a known history of migrations. As a necessary step in understanding population structure to conduct valid association studies of health behaviors among Israeli Jews, we investigated genetic signatures of this history and quantified substructure to facilitate future investigations of these phenotypes in this population. Results Using 32 autosomal STR markers and the program STRUCTURE, we differentiated between Ashkenazi (AJ, N = 135) and non-Ashkenazi (NAJ, N = 226) Jewish populations in the form of Northern and Southern geographic genetic components (AJ north 73%, south 23%, NAJ north 33%, south 60%). The ability to detect substructure within these closely related populations using a small STR panel was contingent on including additional samples representing major continental populations in the analyses. Conclusions Although clustering programs such as STRUCTURE are designed to assign proportions of ancestry to individuals without reference population information, when Jewish samples were analyzed in the absence of proxy parental populations, substructure within Jews was not detected. Generally, for samples with a given grandparental country of birth, STRUCTURE assignment values to Northern, Southern, African and Asian clusters agreed with mitochondrial DNA and Y-chromosomal data from previous studies as well as historical records of migration and intermarriage. PMID:20546593

Genetics Home Reference: Usher syndrome

MedlinePlus

... more frequently in the Finnish population, where it accounts for about 40 percent of cases, and among people of Ashkenazi Jewish heritage. Related Information What information about a genetic condition can statistics ...

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

PubMed

Hui, Ken Y; Fernandez-Hernandez, Heriberto; Hu, Jianzhong; Schaffner, Adam; Pankratz, Nathan; Hsu, Nai-Yun; Chuang, Ling-Shiang; Carmi, Shai; Villaverde, Nicole; Li, Xianting; Rivas, Manual; Levine, Adam P; Bao, Xiuliang; Labrias, Philippe R; Haritunians, Talin; Ruane, Darren; Gettler, Kyle; Chen, Ernie; Li, Dalin; Schiff, Elena R; Pontikos, Nikolas; Barzilai, Nir; Brant, Steven R; Bressman, Susan; Cheifetz, Adam S; Clark, Lorraine N; Daly, Mark J; Desnick, Robert J; Duerr, Richard H; Katz, Seymour; Lencz, Todd; Myers, Richard H; Ostrer, Harry; Ozelius, Laurie; Payami, Haydeh; Peter, Yakov; Rioux, John D; Segal, Anthony W; Scott, William K; Silverberg, Mark S; Vance, Jeffery M; Ubarretxena-Belandia, Iban; Foroud, Tatiana; Atzmon, Gil; Pe'er, Itsik; Ioannou, Yiannis; McGovern, Dermot P B; Yue, Zhenyu; Schadt, Eric E; Cho, Judy H; Peter, Inga

2018-01-10

Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10 -10 ) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3.3 × 10 -8 ). These variants affected CD age of onset, disease location, LRRK2 activity, and autophagy. Bayesian network analysis of CD patient intestinal tissue further implicated LRRK2 in CD pathogenesis. Analysis of the extended LRRK2 locus in 24,570 CD cases, patients with Parkinson's disease (PD), and healthy controls revealed extensive pleiotropy, with shared genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The LRRK2 N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD. Like the G2019S mutation, the N2081D variant was associated with increased kinase activity, whereas neither N551K nor R1398H variants on the protective haplotype altered kinase activity. We also confirmed that R1398H, but not N551K, increased guanosine triphosphate binding and hydrolyzing enzyme (GTPase) activity, thereby deactivating LRRK2. The presence of shared LRRK2 alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Evidence for a founder effect for the IVS4 +4 A{r_arrow}T mutation in the Fanconi anemia gene FACC in a Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Verlander, P.C.; Kaporis, A.G.; Qian, L.

1994-09-01

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disorder defined by hypersensitivity of cells to DNA cross-linking agents; a gene for complementation group C(FACC) has been cloned. Two common mutations, IVS4 +4 A{r_arrow}T and 322delG, and several rare mutations have recently been reported in affected individuals. We now report the development of amplification refractory mutation system (ARMS) assays for rapid, non-radioactive detection of these known mutations in FACC. Primer pairs specific for variant sequences were designed, with the 3{prime} terminal base of one primer matching the variant base. PCR products are separated by electrophoresis on 2.5% agarose gels; mutationsmore » are indicated by the presence of a band of a specific size. These ARMS assays can be multiplexed to allow screening for all known mutations in two PCR reactions. We have used these assays for detection of FACC mutations in affected individuals in the International Fanconi Anemia Registry (IFAR), and for carrier detection FACC families. IVS4 +4 A{r_arrow}T is the only FACC mutation found in Jewish FA patients and their families, of both Ashkenazi and Sephardic ancestry. This mutation was not found in any affected individual of non-Jewish origin. In addition, DNA samples from 1596 healthy Jewish individuals primarily of Ashkenazi ancestry were supplied to us by Dor Yeshorim. These samples, ascertained for carrier screening for Tay Sachs, cystic fibrosis, and other genetic diseases with a high frequency in the religious Jewish community served by this organization, were tested for both IVS4 +4 A{r_arrow}T and 322delG mutations; seventeen IVS4 +4 A{r_arrow}T are of Sephardic Jewish ancestry. We hypothesize that IVS4 +4 A{r_arrow}T is a very old mutation, predating the divergence of the Ashkenazi and Sephardic populations. Haplotype analysis with microsatellite markers is in progress.« less

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Abeliovich, D.; Lavon, I.P.; Lerer, I.

1992-11-01

To determine the distribution and frequency of cystic fibrosis (CF) mutations in the Israeli population, the authors have screened 96 patients for 11 relatively common mutations. Five mutations - [Delta]F508, G542X, W1282X, N1303K, and 3849 + 10kb C[yields]T-were found to account for 97% of the CF alleles in the Ashkenazi Jews. In contrast, of the 11 mutations tested, only [Delta]F508 was detected in Jewish patients of Sephardic or Oriental origin, accounting for 43% of the CF alleles. Four mutations - [Delta]F508, G542X, W1282X, and N1303K- accounted for 55% of the CF alleles in Arab patients. In a pilot screening study,more » a random sample of 424 Ashkenazi individuals was analyzed for three mutations - [Delta]F508, W128X, and G542X. Thirteen individuals were detected as heterozygotes (six for [Delta]F508 and seven for W1282X), predicting a heterozygote frequency of 1:29. This is similar to the frequency of carriers in the Caucasian population of northern European ancestry. On the basis of these data, the Ashkenazi populations is considered to be a candidate for CF heterozygote screening. 32 refs., 2 tabs.« less

Hereditary Mixed Polyposis Syndrome

MedlinePlus

... family. For most families with HMPS, a specific gene mutation causing the syndrome cannot be identified, although some ... Most, but not all, people with inherited GREM1 gene mutations are of Ashkenazi Jewish ancestry. How is HMPS ...

Barriers to cancer screening among Orthodox Jewish women.

PubMed

Tkatch, Rifky; Hudson, Janella; Katz, Anne; Berry-Bobovski, Lisa; Vichich, Jennifer; Eggly, Susan; Penner, Louis A; Albrecht, Terrance L

2014-12-01

The increased risk of genetic cancer mutations for Ashkenazi Jews is well known. However, little is known about the cancer-related health behaviors of a subset of Ashkenazi Jews, Orthodox Jews, who are a very religious and insular group. This study partnered with Rabbinical leadership and community members in an Orthodox Jewish community to investigate barriers to cancer screening in this community. Orthodox Jewish women were recruited to participate in focus groups designed to elicit their perspectives on barriers to cancer screening. A total of five focus groups were conducted, consisting of 3-5 members per group, stratified by age and family history of cancer. Focus groups were audio recorded and transcribed. Transcripts were coded using conventional content analysis. The resulting themes identified as barriers to cancer screening were: preservation of hidden miracles, fate, cost, competing priorities, lack of culturally relevant programming, lack of information, and fear. These results provide a unique perspective on barriers to cancer screening in a high risk but understudied population. Findings from this study may serve to inform culturally appropriate cancer education programs to overcome barriers to screening in this and other similar communities.

Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

PubMed Central

2011-01-01

Background Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. Methods We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Results Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). Conclusions CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches. PMID:21548950

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

PubMed Central

Risch, Neil; Tang, Hua; Katzenstein, Howard; Ekstein, Josef

2003-01-01

The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the driving force. We compare LSDs and nonlysosomal storage diseases (NLSDs) in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations. We also provide new data on the European geographic distribution, in the Ashkenazi population, of seven LSD and seven NLSD mutations. No differences in any of the distributions were observed between LSDs and NLSDs. Furthermore, no regular pattern of geographic distribution was observed for LSD versus NLSD mutations—with some being more common in central Europe and others being more common in eastern Europe, within each group. The most striking disparate pattern was the geographic distribution of the two primary Tay-Sachs disease mutations, with the first being more common in central Europe (and likely older) and the second being exclusive to eastern Europe (primarily Lithuania and Russia) (and likely much younger). The latter demonstrates a pattern similar to two other recently arisen Lithuanian mutations, those for torsion dystonia and familial hypercholesterolemia. These observations provide compelling support for random genetic drift (chance founder effects, one ∼11 centuries ago that affected all Ashkenazim and another ∼5 centuries ago that affected Lithuanians), rather than selection, as the primary determinant of disease mutations in the Ashkenazi population. PMID:12612865

NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

PubMed

Shoshany, Nadav; Avni, Isaac; Morad, Yair; Weiner, Chen; Einan-Lifshitz, Adi; Pras, Eran

2017-09-01

To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. An unusual anterior Y-sutural cataract was documented in the affected male proband. Other clinical features among examined patients included microcorneas, long and narrow faces, and current or previous dental anomalies. A nonsense mutation was identified in each family, including a previously described 742 C>T, p.(Arg248*) mutation in Family A, and a novel mutation 2915 C>A, p.(Ser972*) in Family B. Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

PubMed

Anderson, S L; Chung, W K; Frezzo, J; Papp, J C; Ekstein, J; DiMauro, S; Rubin, B Y

2008-12-01

Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite markers D5S1969 and D5S407 led to evaluation of the complex I gene NDUFS4, in which we identified a novel homozygous c.462delA mutation that disrupts the reading frame. The resulting protein lacks a cAMP-dependent protein kinase phosphorylation site required for activation of mitochondrial respiratory chain complex I. In a random sample of 5000 healthy AJ individuals, the carrier frequency of the NDUFS4 mutation c.462delA was 1 in 1000, suggesting that it should be considered in all AJ patients with Leigh syndrome.

Positional Cloning of an Ashkenzai Jewish Hereditary Prostate Cancer

DTIC Science & Technology

2006-01-01

prostate cancer risk. Cancer Res 65: 1213-1222. Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA. (2004) Frequency of CHEK2 mutations...Genetics, Salt Lake City, UT, 2005. * First author "Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate...Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res. 6:R629-35. 7

Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency

MedlinePlus

... begin anytime from infancy to adulthood, is the primary symptom. The liver problems are usually associated with recurrent vomiting and ... of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide ...

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

PubMed

Theophilus, B; Latham, T; Grabowski, G A; Smith, F I

1989-08-01

Gaucher disease (GD) is the most prevalent lysosomal storage disease. This autosomal recessive trait results from the defective activity of acid beta-glucosidase (beta-Glc). Four different exonic point mutations have been identified as causal alleles for GD. To facilitate screening for these alleles, assays were developed using allele-specific oligonucleotide hybridization to amplified genomic DNA sequences. Specifically, intron bases flanking exons 5, 9, and 10 were determined, and conditions for PCR amplification of these exons were obtained. Two different procedures were developed to distinguish signals obtained from the structural beta-Glc gene exons and those from the pseudogene. These procedures were used to determine the distribution of all known GD alleles in a population of 44 affected patients of varying phenotypes and ethnicity. The high frequency of one of the exon 9 mutations in Ashkenazi Jewish GD type 1 patients was confirmed, and, in addition, this mutation was present in ethnically diverse non-Jewish type 1 GD patients. Homozygotes (N = 5) for this allele were midly affected older individuals, and this mutant allele was not found in any patient with neuronopathic disease. The exon 10 mutation was confirmed as the predominant allele in types 2 and 3 GD. However, several type 1 GD patients, including one of Ashkenazi-Jewish heritage, also were heterozygous for this allele. The presence of this allele in type 1 patients did not correlate with the severity of clinical symptoms. The second exon 9 mutation and the exon 5 mutation were rare, since they occurred only heterozygously either in one type 2 GD patient or in two related Ashkenazi-Jewish GD patients, respectively. Although most GD patients (38 of 44) had at least one of the known mutant alleles, 57% were heterozygotes for only one of these mutations. Fourteen percent of patients were negative for all mutations. A total of 73% of GD patients had at least one unknown allele. The varying clinical phenotypes and ethnic origins of these incompletely characterized patients suggest that multiple other GD alleles exist.

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

PubMed

Bercovich, D; Elimelech, A; Yardeni, T; Korem, S; Zlotogora, J; Gal, N; Goldstein, N; Vilensky, B; Segev, R; Avraham, S; Loewenthal, R; Schwartz, G; Anikster, Y

2008-05-01

Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine hydroxylase deficiency, causing phenylketonuria (PKU). Among 159 Israeli patients (Jews, Muslim and Christian Arabs and Druze) with HPA, in whom at least one of the mutations was characterized, a total of 43 different mutations were detected, including seven novel ones. PKU was very rare among Ashkenazi Jews and relatively frequent among Jews from Yemen, the Caucasian Mountains, Bukhara and Tunisia. The mutations responsible for the high frequency were: exon3del (Yemenite Jews), L48S (Tunisian Jews) and E178G, P281L and L48S (Jews from the Caucasian Mountains and Bukhara). Among the non-Jewish Israeli citizens, the disease was relatively frequent in the Negev and in the Nazareth vicinity, and in many localities a unique mutation was detected, often in a single family. While marked genetic heterogeneity was observed in the Arab and Jewish populations, only one mutation A300S, was frequent in all of the communities. Several of the other frequent mutations were shared by the non-Ashkenazi Jews and Arabs; none were mutual to Ashkenazi Jews and Arabs.

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

PubMed Central

Antoniou, A; Pharoah, P; Narod, S; Risch, H; Eyfjord, J; Hopper, J; Olsson, H; Johannsson, O; Borg, A; Pasini, B; Radice, P; Manoukian, S; Eccles, D; Tang, N; Olah, E; Anton-Culver, H; Warner, E; Lubinski, J; Gronwald, J; Gorski, B; Tulinius, H; Thorlacius, S; Eerola, H; Nevanlinna, H; Syrjakoski, K; Kallioniemi, O; Thompson, D; Evans, C; Peto, J; Lalloo, F; Evans, D; Easton, D

2005-01-01

A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population. PMID:15994883

Effect of ethnic origin and gender on the clinical manifestations of myasthenia gravis among the Jewish population in Israel.

PubMed

Asmail, Ali; Kesler, Anat; Drory, Vivian E; Kolb, Hadar; Karni, Arnon

2017-06-15

Reports on patients with myasthenia gravis (MG) of different ethnic origins demonstrated differences in weakness distribution and serological results. We studied MG characteristics in a cohort of Ashkenazi (ASH) and non-Ashkenazi (NASH) Jewish origin according to their ethnic origins and gender. The frequency of age of MG onset was distributed in a bi-modal fashion in the female patients and increased gradually over time, with a peak around 70years of age in the male patients. Ocular MG was more frequent in males and ASH patients. Unlike previous reports, our male patients had a higher proportion of positive serum anti-acetyl choline receptor (AChR) than female patients, with no ethnic-based differences in the rates of anti-AChR or anti-muscle specific kinase. Comorbidity with another autoimmune disease was more frequent among female patients with late-onset MG and NASH patients (mainly Israel-born). Male MG patients tended to have more malignant comorbidities than female MG patients. These results demonstrate the effect of ethnicity on clinical aspects of MG within the Jewish population in Israel, and reveal novel effects of gender-associated comorbidities in patients with MG. Copyright © 2017. Published by Elsevier B.V.

Gaucher disease: Gene frequencies in the Ashkenazi Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beutler, E.; West, C.; Gelbart, T.

1993-01-01

DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-seven of 1,528 individuals were heterozygous for the 1226G (N370S) mutation, and four presumably well persons were homozygous for this mutation. The gene frequency for the 1226G allele was calculated to be .0311, and when these data were pooled with those obtained previously from another 593 Jewish subjects, a gene frequency of .032 withmore » a standard error of .004 was found. Among 2,305 normal subjects, 10 were found to be heterozygous for the 84GG allele, giving a gene frequency of .00217 with a standard error of .00096. No examples of the IVS2(+1) mutation were found among 1,256 samples screened, and no 1448C (L444P) mutations were found among 1,528 samples examined. Examination of the distribution of Gaucher disease gene frequencies in the general population shows that the ratio of 1226G mutations to 84GG mutations is higher than that in the patient population. This is presumed to be due to the fact that homozygotes for the 1226G mutation often have late-onset disease or no significant clinical manifestations at all. To bring the gene frequency in the patient population into conformity with the gene frequency in the general population, nearly two-thirds of persons with a Gaucher disease genotype would be missing from the patient population, presumably because their clinical manifestations were very mild. 10 refs., 3 tabs.« less

What influences participation in genetic carrier testing? Results from a discrete choice experiment.

PubMed

Hall, Jane; Fiebig, Denzil G; King, Madeleine T; Hossain, Ishrat; Louviere, Jordan J

2006-05-01

This study explores factors that influence participation in genetic testing programs and the acceptance of multiple tests. Tay Sachs and cystic fibrosis are both genetically determined recessive disorders with differing severity, treatment availability, and prevalence in different population groups. We used a discrete choice experiment with a general community and an Ashkenazi Jewish sample; data were analysed using multinomial logit with random coefficients. Although Jewish respondents were more likely to be tested, both groups seem to be making very similar tradeoffs across attributes when they make genetic testing choices.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

PubMed

Lerer, I; Sagi, M; Ben-Neriah, Z; Wang, T; Levi, H; Abeliovich, D

2001-11-01

A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearing loss. These patients were heterozygous for one of the common mutations 167delT or 35delG in the GJB2 gene in trans to the deletion. The deletion started at 5' side of the GJB6 (CX30) gene including the first exon and it did not affect the integrity of the GJB2 gene. The deletion mutation segregated together with the hearing loss, and was not found in a control group of 100 Ashkenazi individuals. We suggest that the deletion is a recessive mutation causing hearing loss in individuals that are double heterozygous for the deletion and for a mutation in the GJB2 gene. The effect of the deletion mutation could be due to a digenic mode of inheritance of GJB2 and GJB6 genes that encode two different connexins; connexin 26 and connexin 30, or it may abolish control elements that are important in the expression of the GJB2 gene in the cochlea. Regardless which of the options is valid, it is apparent that the deletion mutation provides a new insight into connexin function in the auditory system. The deletion mutation was on the same haplotypic background in all the families, and therefore is a founder mutation that increases the impact of GJB2 in the etiology of prelingual recessive non-syndromic hearing loss in the Ashkenazi population. Copyright 2001 Wiley-Liss, Inc.

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

PubMed Central

Schmit, Stephanie L.; Stadler, Zsofia K.; Joseph, Vijai; Zhang, Lu; Willis, Joseph E.; Scacheri, Peter; Veigl, Martina; Adams, Mark D.; Raskin, Leon; Sullivan, John F.; Stratton, Kelly; Shia, Jinru; Ellis, Nathan; Rennert, Hedy S.; Manschreck, Christopher; Li, Li; Offit, Kenneth; Elston, Robert C.; Rennert, Gadi; Gruber, Stephen B.

2016-01-01

We tested for germline variants showing association to colon cancer metastasis using a genome-wide association study that compared Ashkenazi Jewish individuals with stage IV metastatic colon cancers versus those with stage I or II non-metastatic colon cancers. In a two-stage study design, we demonstrated significant association to developing metastatic disease for rs60745952, that in Ashkenazi discovery and validation cohorts, respectively, showed an odds ratio (OR) = 2.3 (P = 2.73E-06) and OR = 1.89 (P = 8.05E-04) (exceeding validation threshold of 0.0044). Significant association to metastatic colon cancer was further confirmed by a meta-analysis of rs60745952 in these datasets plus an additional Ashkenazi validation cohort (OR = 1.92; 95% CI: 1.28–2.87), and by a permutation test that demonstrated a significantly longer haplotype surrounding rs60745952 in the stage IV samples. rs60745952, located in an intergenic region on chromosome 4q31.1, and not previously associated with cancer, is, thus, a germline genetic marker for susceptibility to developing colon cancer metastases among Ashkenazi Jews. PMID:26751797

"It's in My Veins": Identity and Disciplinary Practice in Students' Discussions of a Historical Issue

ERIC Educational Resources Information Center

Goldberg, Tsafrir

2013-01-01

Learners' identity is considered a resource, but is also assumed to conflict with impartial history learning practices. This empirical study explores the relationship between learners' social identity and their historical practices and understanding. Sixty-four Jewish-Israeli 12th-grade students of Mizrahi and Ashkenazi ethnicities studied a…

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

PubMed

Lew, Raelia; Burnett, Leslie; Proos, Anné

2011-12-01

The Australasian Community Genetics Program provided a preconception screening for Tay-Sachs disease (TSD) to 4,105 Jewish high school students in Sydney and Melbourne over the 12-year period 1995-2007. By correlating the frequencies of mutant HEXA, MIM *606869 (gene map locus 15q23-q24) alleles with subjects' nominated ethnicity (Ashkenazi/Sephardi/Mixed) and grandparental birthplaces, we established that Ashkenazi ethnicity is a better predictor of TSD carrier status than grandparental ancestral origins. Screening self-identified Ashkenazi subjects detected 95% of TSD carriers (carrier frequency 1:25). Having mixed Ashkenazi and non-Ashkenazi heritage reduced the carrier frequency (1:97). South African heritage conveyed a fourfold risk of c.1421 + 1G > C mutation compared with other AJ subjects (odds ratio (OR), 4.19; 95% confidence interval (CI), 1.83-9.62, p = 0.001), but this was the only specific case of ancestral origin improving diagnostic sensitivity over that based on determining Ashkenazi ethnicity. Carriers of c.1278insTATC mutations were more likely to have heritage from Western Europe (OR, 1.65 (95% CI, 1.04-2.60), p = 0.032) and South Eastern Europe (OR, 1.77 (95% CI, 1.14-2.73), p = 0.010). However, heritage from specific European countries investigated did not significantly alter the overall odds of TSD carrier status.

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

PubMed

Parvari, R; Shen, J; Hershkovitz, E; Chen, Y T; Moses, S W

1998-04-01

Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of an adenine into a stretch of 8 adenines towards the 3' end of the coding region, one at position 3904 (3904insA) in exon 30, the second at position 4214 (4214insA) in exon 32. The mutations cause frameshifts and premature terminations of the glycogen debranching enzyme, the first causing a frameshift at amino acid 1304, the second causing a frameshift at amino acid 1408 of the total of 1532. These mutations demonstrate the importance of the 125 amino acids at the carboxy-terminus of the debrancher enzyme for its activity and support the suggestion that the putative glycogen binding domain is located in the carboxy-terminus of the AGL. The mutations cause distinctive single-strand conformation polymorphism (SSCP) patterns enabling easy detection.

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

PubMed Central

Carmi, Shai; Hui, Ken Y.; Kochav, Ethan; Liu, Xinmin; Xue, James; Grady, Fillan; Guha, Saurav; Upadhyay, Kinnari; Ben-Avraham, Dan; Mukherjee, Semanti; Bowen, B. Monica; Thomas, Tinu; Vijai, Joseph; Cruts, Marc; Froyen, Guy; Lambrechts, Diether; Plaisance, Stéphane; Van Broeckhoven, Christine; Van Damme, Philip; Van Marck, Herwig; Barzilai, Nir; Darvasi, Ariel; Offit, Kenneth; Bressman, Susan; Ozelius, Laurie J.; Peter, Inga; Cho, Judy H.; Ostrer, Harry; Atzmon, Gil; Clark, Lorraine N.; Lencz, Todd; Pe’er, Itsik

2014-01-01

The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and Middle Eastern groups, with genetic diversity patterns conducive to disease mapping. Here we report high-depth sequencing of 128 complete genomes of AJ controls. Compared with European samples, our AJ panel has 47% more novel variants per genome and is eightfold more effective at filtering benign variants out of AJ clinical genomes. Our panel improves imputation accuracy for AJ SNP arrays by 28%, and covers at least one haplotype in ≈67% of any AJ genome with long, identical-by-descent segments. Reconstruction of recent AJ history from such segments confirms a recent bottleneck of merely ≈350 individuals. Modelling of ancient histories for AJ and European populations using their joint allele frequency spectrum determines AJ to be an even admixture of European and likely Middle Eastern origins. We date the split between the two ancestral populations to ≈12–25 Kyr, suggesting a predominantly Near Eastern source for the repopulation of Europe after the Last Glacial Maximum. PMID:25203624

Variations in biochemical values for common laboratory tests: a comparison among multi-ethnic Israeli women cohort.

PubMed

Birk, Ruth; Heifetz, Eliyahu M

2018-04-28

Biochemical laboratory values are an essential tool in medical diagnosis, treatment, and follow-up; however, they are known to vary between populations. Establishment of ethnicity-adjusted reference values is recommended by health organizations. To investigate the ethnicity element in biochemical lab values studying women of different ethnic groups. Biochemical lab values (n = 27) of 503 adult Israeli women of three ethnicities (Jewish Ashkenazi, Jewish Sephardic, and Bedouin Arab) attending a single medical center were analyzed. Biochemical data were extracted from medical center records. Ethnic differences of laboratory biochemicals were studied using ANCOVA to analyze the center of the distribution as well as quartile regression analysis to analyze the upper and lower limits, both done with an adjustment for age. Significant ethnic differences were found in almost half (n = 12) of the biochemical laboratory tests. Ashkenazi Jews exhibited significantly higher mean values compared to Bedouins in most of the biochemical tests, including albumin, alkaline phosphatase, calcium, cholesterol, cholesterol LDL and HDL, cholesterol LDL calc., folic acid, globulin, and iron saturation, while the Bedouins exhibited the highest mean values in the creatinine and triglycerides. For most of these tests, Sephardic Jews exhibited biochemical mean levels in between the two other groups. Compared to Ashkenazi Jews, Sephardic Jews had a significant shift to lower values in cholesterol LDL. Ethnic subpopulations have distinct distributions in biochemical laboratory test values, which should be taken into consideration in medical practice enabling precision medicine.

Ethnicity vs. National Culture in One Nationalized Educational Site: The Case of the Annual School Trip

ERIC Educational Resources Information Center

Markovich, Dalya Yafa

2016-01-01

This study examines the interface between ethnicity and nationality in a nationalized educational site--the annual school trip--that took place in a Jewish high school in Israel that serves underprivileged ethnic groups. Based on ethnographic field work, I analyze how the Ashkenazi (central-eastern European origin) hegemonic national culture that…

Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.

PubMed Central

Grabowski, G A; Dinur, T; Osiecki, K M; Kruse, J R; Legler, G; Gatt, S

1985-01-01

To elucidate the genetic heterogeneity in Gaucher disease, the residual beta-glucosidase in cultured fibroblasts from affected patients with each of the major phenotypes was investigated in vitro and/or in viable cells by inhibitor studies using the covalent catalytic site inhibitors, conduritol B epoxide or its bromo derivative, and the reversible cationic inhibitor, sphingosine. These studies delineated three distinct groups (designated A, B, and C) of residual activities with characteristic responses to these inhibitors. Group A residual enzymes had normal I50 values (i.e., the concentration of inhibitor that results in 50% inhibition) for the inhibitors and normal or nearly normal t1/2 values for conduritol B epoxide. All neuronopathic (types 2 and 3) and most non-Jewish nonneuronopathic (type 1) patients had group A residual activities and, thus, could not be distinguished by these inhibitor studies. Group B residual enzymes had about four- to fivefold increased I50 values for the inhibitors and similarly increased t1/2 values for conduritol B epoxide. All Ashkenazi Jewish type 1 and only two non-Jewish type 1 patients had group B residual activities. The differences in I50 values between groups A and B also were confirmed by determining the uninhibited enzyme activity after culturing the cells in the presence of bromo-conduritol B epoxide. Group C residual activity had intermediate I50 values for the inhibitors and represented a single Afrikaner type 1 patient: this patient was a genetic compound for the group A (type 2) and group B (type 1) mutations. These inhibition studies indicated that: Gaucher disease type 1 is biochemically heterogeneous, neuronopathic and non-Jewish nonneuronopathic phenotypes cannot be reliably distinguished by these inhibitor studies, and the Ashkenazi Jewish form of Gaucher disease type 1 results from a unique mutation in a specific active site domain of acid beta-glucosidase that leads to a defective enzyme with a decreased Vmax. PMID:4003396

Effect of polymorphism in insulin locus and HLA on type 1 diabetes in four ethnic groups in Israel.

PubMed

Benedek, G; Brautbar, C; Vardi, P; Sharon, N; Weintrob, N; Zung, A; Israel, S

2009-01-01

This study examined a possible association of the insulin (INS) gene with type 1 diabetes (T1D) in patients and controls from four ethnic groups in Israel. We analyzed the distribution of -23HphI single nucleotide polymorphism (SNP) T/A alleles that correspond to INS variable number of tandem repeat short class I alleles (26-63 repeats) and class III alleles (141-209 repeats), respectively. The -23HphI T/T genotype was found to be positively associated with T1D in three Jewish groups (Yemenites: 93.9% patients vs 68.8% controls, P = 0.0002; Ashkenazi: 80.6% vs 50.8%, P < 10(-4); Ethiopians: 75% vs 40.5%, P = 0.002). The Yemenite healthy controls have the highest frequency of T allele from all Jewish groups studied (83.5% vs 68.8% in Ashkenazi and 64.3% in Ethiopians). The high frequency of a susceptibility allele in the Yemenites is in line with the high incidence of T1D in this population. No association was observed between T1D and the INS gene in Israeli Arabs studied (70.6% vs 66.7%). Variable incidence of T1D among different ethnicities in Israel is largely attributed to heterogeneous genetics. Human leukocyte antigen (HLA) results of our previous studies describing the susceptibility and protective haplotypes were used for combined analysis to determine possible interaction between the HLA and INS loci. Only in the Ashkenazi group such interaction was presented with statistical significance.

Pedophiles in the Ultra-Orthodox Haredi Sector in Israel: Thought Processes Regarding their Actions.

PubMed

Hamo, Gil; Idisis, Yael

2017-01-01

This study explores thought patterns of Jewish Ashkenazi Ultra-Orthodox pedophiles in Israel and how they resolve the contradiction between their commitment to Jewish Law and having committed sexual offenses against minors. Ten adult men participated in this study. Using open semistructured interviews, their cognitive distortions before, during, and after the abuse were examined. Content analysis revealed that participants used cognitive distortions based on their own world of Jewish Law and social-cultural values. The insular nature of Ultra-Orthodox society and its many prohibitions, especially regarding sexuality, tempted offenders to test boundaries. When sexual drive was high, internal control mechanisms were ineffective even in presence of external control mechanisms. Some participants recognized the contradiction between their behaviors and being Ultra-Orthodox Jews, and others did not. Based on the findings, a flow chart was devised describing the cognitive processes of Jewish Ultra-Orthodox pedophiles. Theoretical and practical implications of the results were examined.

Familial chronic lymphocytic leukemia in Israel: A disproportionate distribution among Ashkenazi Jews.

PubMed

Zada, Mor; Lerner, Daniele; Piltz, Yuval; Perry, Chava; Avivi, Irit; Herishanu, Yair

2017-07-01

Relatives of patients with chronic lymphocytic leukemia (CLL) are at increased risk of developing CLL. Familial CLL is defined as more than one case of CLL among blood relatives, a phenomenon reported in approximately 5%-10% of all CLL patients. Given the known predisposition of CLL among Ashkenazi Jews, we studied the features of familial CLL in an Israeli population. This is a retrospective study, in which we reviewed the demographics, clinical characteristics, and outcomes of a total of 332 patients with CLL/small lymphocytic lymphoma. Familial CLL was recorded in 41 cases (12.3%) of the patients. The age at diagnosis was younger in patients with familial CLL (by almost 3.5 years). Familial CLL was strongly associated with Ashkenazi Jewish origin. Patients with familial CLL more commonly presented with higher hemoglobin and lower serum β-2-microglobulin levels. No significant differences were detected between sporadic and familial CLL in disease stage, time to treatment, second cancers, or overall survival. Familial cases of CLL in an Israeli population show a disproportionate ethnic distribution toward Jews of Ashkenazi origin. The clinical characteristics and the overall outcome are not substantially different from sporadic cases. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

PubMed

Kaya, Namik; Al-Owain, Mohammad; Abudheim, Nada; Al-Zahrani, Jawaher; Colak, Dilek; Al-Sayed, Moeen; Milanlioglu, Aysel; Ozand, Pinar T; Alkuraya, Fowzan S

2011-06-01

The GM2 gangliosidose, Tay-Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population. Copyright © 2011 Wiley-Liss, Inc.

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis

PubMed Central

Simpson, Claire L.; Wojciechowski, Robert; Ibay, Grace; Stambolian, Dwight

2011-01-01

Purpose Despite many years of research, most of the genetic factors contributing to myopia development remain unknown. Genetic studies have pointed to a strong inherited component, but although many candidate regions have been implicated, few genes have been positively identified. Methods We have previously reported 2 genomewide linkage scans in a population of 63 highly aggregated Ashkenazi Jewish families that identified a locus on chromosome 22. Here we used ordered subset analysis (OSA), conditioned on non-parametric linkage to chromosome 22 to detect other chromosomal regions which had evidence of linkage to myopia in subsets of the families, but not the overall sample. Results Strong evidence of linkage to a 19-cM linkage interval with a peak OSA nonparametric allele-sharing logarithm-of-odds (LOD) score of 3.14 on 20p12-q11.1 (ΔLOD=2.39, empirical p=0.029) was identified in a subset of 20 families that also exhibited strong evidence of linkage to chromosome 22. One other locus also presented with suggestive LOD scores >2.0 on chromosome 11p14-q14 and one locus on chromosome 6q22-q24 had an OSA LOD score=1.76 (ΔLOD=1.65, empirical p=0.02). Conclusions The chromosome 6 and 20 loci are entirely novel and appear linked in a subset of families whose myopia is known to be linked to chromosome 22. The chromosome 11 locus overlaps with the known Myopia-7 (MYP7, OMIM 609256) locus. Using ordered subset analysis allows us to find additional loci linked to myopia in subsets of families, and underlines the complex genetic heterogeneity of myopia even in highly aggregated families and genetically isolated populations such as the Ashkenazi Jews. PMID:21738393

Identification of population substructure among Jews using STR markers and dependence on reference populations included.

PubMed

Listman, Jennifer B; Hasin, Deborah; Kranzler, Henry R; Malison, Robert T; Mutirangura, Apiwat; Sughondhabirom, Atapol; Aharonovich, Efrat; Spivak, Baruch; Gelernter, Joel

2010-06-14

Detecting population substructure is a critical issue for association studies of health behaviors and other traits. Whether inherent in the population or an artifact of marker choice, determining aspects of a population's genetic history as potential sources of substructure can aid in design of future genetic studies. Jewish populations, among which association studies are often conducted, have a known history of migrations. As a necessary step in understanding population structure to conduct valid association studies of health behaviors among Israeli Jews, we investigated genetic signatures of this history and quantified substructure to facilitate future investigations of these phenotypes in this population. Using 32 autosomal STR markers and the program STRUCTURE, we differentiated between Ashkenazi (AJ, N = 135) and non-Ashkenazi (NAJ, N = 226) Jewish populations in the form of Northern and Southern geographic genetic components (AJ north 73%, south 23%, NAJ north 33%, south 60%). The ability to detect substructure within these closely related populations using a small STR panel was contingent on including additional samples representing major continental populations in the analyses. Although clustering programs such as STRUCTURE are designed to assign proportions of ancestry to individuals without reference population information, when Jewish samples were analyzed in the absence of proxy parental populations, substructure within Jews was not detected. Generally, for samples with a given grandparental country of birth, STRUCTURE assignment values to Northern, Southern, African and Asian clusters agreed with mitochondrial DNA and Y-chromosomal data from previous studies as well as historical records of migration and intermarriage.

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

PubMed

Fan, Chia Wei; Castonguay, Lysanne; Rummell, Sonja; Lévesque, Sébastien; Mitchell, John J; Sillon, Guillaume

2018-04-01

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50-0.54), although the data are inconclusive regarding the module's non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

PubMed Central

Edelmann, Lisa; Wasserstein, Melissa P.; Kornreich, Ruth; Sansaricq, Claude; Snyderman, Selma E.; Diaz, George A.

2001-01-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1β subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1β subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was ∼1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group. PMID:11509994

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

PubMed Central

Scott, Stuart A.; Edelmann, Lisa; Liu, Liu; Luo, Minjie; Desnick, Robert J.; Kornreich, Ruth

2010-01-01

The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ~1 in 3.3 being a carrier for one disease and ~1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ~15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population. PMID:20672374

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PubMed

Edelmann, L; Wasserstein, M P; Kornreich, R; Sansaricq, C; Snyderman, S E; Diaz, G A

2001-10-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1beta subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was approximately 1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

PubMed

Reeves, Michelle D; Yawitch, Tali M; van der Merwe, Nerina C; van den Berg, Hester J; Dreyer, Greta; van Rensburg, Elizabeth J

2004-07-10

Germ-line mutations within BRCA1 are responsible for different proportions of inherited susceptibility to breast/ovarian cancer, and the spectrum of mutations within this gene is often unique to certain populations. At this time, there have been no reports regarding the role of BRCA1 in South African breast and/or ovarian cancer families. We therefore screened 90 South African breast/ovarian cancer families for BRCA1 mutations by means of PCR-based mutation detection assays. Eighteen families (20%) were identified with BRCA1 disease-causing mutations. Four Ashkenazi Jewish families were identified with the 185delAG mutation, whereas 2 Afrikaner and 1 Ashkenazi Jewish family were found to harbor the 5382insC mutation. Five of the families (5.56%), all of whom are Afrikaners, were found to carry the novel E881X mutation. Genotype analyses show that these patients share a common ancestor. Genealogic studies have identified 3 possible founding couples for this mutation, all of whom arrived in the Cape from France in the late 1600s. Of the remaining mutations detected, 3 have not been reported previously and include the S451X, 1493delC (detected twice) and 4957insC mutations. Copyright 2004 Wiley-Liss, Inc.

Effect of BRCA germline mutations on breast cancer prognosis

PubMed Central

Baretta, Zora; Mocellin, Simone; Goldin, Elena; Olopade, Olufunmilayo I.; Huo, Dezheng

2016-01-01

Abstract Background: The contribution of BRCA germline mutational status to breast cancer patients’ prognosis is unclear. We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer, those with Ashkenazi Jewish ancestry, and patients with stage I–III disease. Methods: Sixty studies met all inclusion criteria and were considered for this meta-analysis. These studies involved 105,220 breast cancer patients, whose 3588 (3.4%) were BRCA mutations carriers. The associations between BRCA genes mutational status and overall survival (OS), breast cancer-specific survival (BCSS), recurrence-free survival (RFS), and distant metastasis-free survival (DMFS) were evaluated using random-effect models. Results: BRCA1 mutation carriers have worse OS than BRCA-negative/sporadic cases (hazard ratio, HR 1.30, 95% CI: 1.11–1.52) and worse BCSS than sporadic/BRCA-negative cases among patients with stage I–III breast cancer (HR 1.45, 95% CI: 1.01–2.07). BRCA2 mutation carriers have worse BCSS than sporadic/BRCA-negative cases (HR 1.29, 95% CI: 1.03–1.62), although they have similar OS. Among triple negative breast cancer, BRCA1/2 mutations carriers had better OS than BRCA-negative counterpart (HR 0.49, 95% CI: 0.26–0.92). Among Ashkenazi Jewish women, BRCA1/2 mutations carriers presented higher risk of death from breast cancer (HR 1.44, 95% CI: 1.05–1.97) and of distant metastases (HR 1.82, 95% CI: 1.05–3.16) than sporadic/BRCA-negative patients. Conclusion: Our results support the evaluation of BRCA mutational status in patients with high risk of harboring BRCA germline mutations to better define the prognosis of breast cancer in these patients. PMID:27749552

Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing

PubMed Central

Manchanda, Ranjit; Legood, Rosa; Burnell, Matthew; McGuire, Alistair; Raikou, Maria; Loggenberg, Kelly; Wardle, Jane; Sanderson, Saskia; Gessler, Sue; Side, Lucy; Balogun, Nyala; Desai, Rakshit; Kumar, Ajith; Dorkins, Huw; Wallis, Yvonne; Chapman, Cyril; Taylor, Rohan; Jacobs, Chris; Tomlinson, Ian; Beller, Uziel; Menon, Usha

2015-01-01

Background: Population-based testing for BRCA1/2 mutations detects the high proportion of carriers not identified by cancer family history (FH)–based testing. We compared the cost-effectiveness of population-based BRCA testing with the standard FH-based approach in Ashkenazi Jewish (AJ) women. Methods: A decision-analytic model was developed to compare lifetime costs and effects amongst AJ women in the UK of BRCA founder-mutation testing amongst: 1) all women in the population age 30 years or older and 2) just those with a strong FH (≥10% mutation risk). The model assumes that BRCA carriers are offered risk-reducing salpingo-oophorectomy and annual MRI/mammography screening or risk-reducing mastectomy. Model probabilities utilize the Genetic Cancer Prediction through Population Screening trial/published literature to estimate total costs, effects in terms of quality-adjusted life-years (QALYs), cancer incidence, incremental cost-effectiveness ratio (ICER), and population impact. Costs are reported at 2010 prices. Costs/outcomes were discounted at 3.5%. We used deterministic/probabilistic sensitivity analysis (PSA) to evaluate model uncertainty. Results: Compared with FH-based testing, population-screening saved 0.090 more life-years and 0.101 more QALYs resulting in 33 days’ gain in life expectancy. Population screening was found to be cost saving with a baseline-discounted ICER of -£2079/QALY. Population-based screening lowered ovarian and breast cancer incidence by 0.34% and 0.62%. Assuming 71% testing uptake, this leads to 276 fewer ovarian and 508 fewer breast cancer cases. Overall, reduction in treatment costs led to a discounted cost savings of £3.7 million. Deterministic sensitivity analysis and 94% of simulations on PSA (threshold £20000) indicated that population screening is cost-effective, compared with current NHS policy. Conclusion: Population-based screening for BRCA mutations is highly cost-effective compared with an FH-based approach in AJ women age 30 years and older. PMID:25435542

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-05-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available.

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

PubMed

Peter, Inga; Mitchell, Adele A; Ozelius, Laurie; Erazo, Monica; Hu, Jianzhong; Doheny, Dana; Abreu, Maria T; Present, Daniel H; Ullman, Thomas; Benkov, Keith; Korelitz, Burton I; Mayer, Lloyd; Desnick, Robert J

2011-05-06

Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches.

Carrier screening in the era of expanding genetic technology.

PubMed

Arjunan, Aishwarya; Litwack, Karen; Collins, Nick; Charrow, Joel

2016-12-01

The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

PubMed

Auslender, Noa; Bandah, Dikla; Rizel, Leah; Behar, Doron M; Shohat, Mordechai; Banin, Eyal; Allon-Shalev, Stavit; Sharony, Reuven; Sharon, Dror; Ben-Yosef, Tamar

2008-06-01

Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. To date, over 70 pathogenic mutations of USH2A have been reported in individuals of various ethnicities. Many of these mutations are rare private mutations segregating in single families. The aim of the current work was to investigate the genetic basis for USH2 among Jews of various origins. We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations.

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

PubMed

Srour, M; Hamdan, F F; Gan-Or, Z; Labuda, D; Nassif, C; Oskoui, M; Gana-Weisz, M; Orr-Urtreger, A; Rouleau, G A; Michaud, J L

2015-07-01

We performed exome analysis in two affected siblings with severe intellectual disability (ID), microcephaly and spasticity from an Ashkenazi Jewish consanguineous family. We identified only one rare variant, a missense in SLC1A4 (c. 766G>A [p. E256K]), that is homozygous in both siblings but not in any of their 11 unaffected siblings or their parents (Logarithm of odds, LOD score: 2.6). This variant is predicted damaging. We genotyped 450 controls of Ashkenazi Jewish ancestry and identified only 5 individuals who are heterozygous for this variant (minor allele frequency: 0.0056). SLC1A4 (ASCT1) encodes a transporter for neutral aminoacids such as alanine, serine, cysteine and threonine. L-Serine is essential for neuronal survival and differentiation. Indeed, L-serine biosynthesis disorders affect brain development and cause severe ID. In the brain, L-serine is synthesized in astrocytes but not in neurons. It has been proposed that ASCT1 mediates the uptake of L-serine into neurons and the release of glia-borne L-serine to neighboring cells. SLC1A4 disruption may thus impair brain development and function by decreasing the levels of L-serine in neurons. The identification of additional families with mutations in SLC1A4 would be necessary to confirm its involvement in ID. © 2015 John Wiley | Clinical Exome Genome Reports.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

PubMed

Heimer, G; Marek-Yagel, D; Eyal, E; Barel, O; Oz Levi, D; Hoffmann, C; Ruzzo, E K; Ganelin-Cohen, E; Lancet, D; Pras, E; Rechavi, G; Nissenkorn, A; Anikster, Y; Goldstein, D B; Ben Zeev, B

2015-10-01

Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpus callosum (CC) underwent trio whole-exome sequencing. No candidate variant was found in any known genes related to the phenotype. However, crossing the data of the patients illustrated that they both manifested pathogenic variants in the SLC1A4 gene which codes the ASCT1 transporter of serine and other neutral amino acids. The Ashkenazi patient is homozygous for a deleterious missense c.766G>A, p.(E256K) mutation whereas the Ashkenazi-Iraqi patient is compound heterozygous for this mutation and a nonsense c.945delTT, p.(Leu315Hisfs*42) mutation. Structural prediction demonstrates truncation of significant portion of the protein by the nonsense mutation and speculates functional disruption by the missense mutation. Both mutations are extremely rare in general population databases, however, the missense mutation was found in heterozygous mode in 1:100 Jewish Ashkenazi controls suggesting a higher carrier rate among Ashkenazi Jews. We conclude that SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin CC. The role of SLC1A4 in the serine transport from astrocytes to neurons suggests a possible pathomechanism for this disease and implies a potential therapeutic approach. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed Central

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-01-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available. PMID:380330

Prevalance of Canavan disease heterozygotes in the New York Metropolitan Ashkenazi Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kronn, D.; Oddoux, C.; Phillips, J.

1995-11-01

Canavan disease is a severe neurodegenerative disease that occurs most commonly in the Ashkenazi Jewish population. Previous studies have indicated the carrier frequency to be between 1/59 and 1/45. The disease, now recognized as a deficiency of aspartoacylase, is associated with the pathological finding of spongy degeneration of the brain. Patients are usually normal at birth, but by 2-4 mo they lose milestones and develop seizures, macrocephaly, and hypertonia. Death occurs in early childhood. With the availability of enzymatic testing, an increase in the incidence of newly diagnosed cases has been observed, suggesting that the frequency of the disorder maymore » have been underestimated. In 1993, the cDNA for the aspartoacylase gene was cloned, and an A{yields}C transition at nucleotide 854 was identified in affected individuals. This represents a missense mutation from glutamine to alanine at amino acid residue 285 (E285A). This mutation was found in 73/88 Canavan disease-bearing chromosomes from Ashkenazi patients. In the same study, a C{yields}A transition at nucleotide 693, which results in the conversion from a tyrosine codon to terminator codon at position 231 (Y231X), was found in 13/88 chromosomes. Thus, these two mutations provide a detection rate >97% in this population. The aspartoacylase gene spans 23 kb of DNA and has been mapped to 17p13-ter by FISH. The gene consists of six coding exons. The E285A mutation is located in exon 6 and results in the creation of a new EagI site, whereas the Y231X mutation is found in exon S and creates an MseI site. In this study we have determined the frequency of these two mutations from a panel of unaffected individuals who live in the New York metropolitan area. 9 refs., 1 tab.« less

European Population Substructure: Clustering of Northern and Southern Populations

PubMed Central

Seldin, Michael F; Shigeta, Russell; Villoslada, Pablo; Selmi, Carlo; Tuomilehto, Jaakko; Silva, Gabriel; Belmont, John W; Klareskog, Lars; Gregersen, Peter K

2006-01-01

Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between “northern” and “southern” European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the “southern” population; and most northern, western, eastern, and central Europeans have >90% in the “northern” population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed >85% membership in the “southern” population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies. PMID:17044734

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

PubMed Central

Im, Kate M.; Kirchhoff, Tomas; Wang, Xianshu; Green, Todd; Chow, Clement Y.; Vijai, Joseph; Korn, Joshua; Gaudet, Mia M.; Fredericksen, Zachary; Pankratz, V. Shane; Guiducci, Candace; Crenshaw, Andrew; McGuffog, Lesley; Kartsonaki, Christiana; Morrison, Jonathan; Healey, Sue; Sinilnikova, Olga M.; Mai, Phuong L.; Greene, Mark H.; Piedmonte, Marion; Rubinstein, Wendy S.; Hogervorst, Frans B.; Rookus, Matti A.; Collée, J. Margriet; Hoogerbrugge, Nicoline; van Asperen, Christi J.; Meijers-Heijboer, Hanne E. J.; Van Roozendaal, Cees E.; Caldes, Trinidad; Perez-Segura, Pedro; Jakubowska, Anna; Lubinski, Jan; Huzarski, Tomasz; Blecharz, Paweł; Nevanlinna, Heli; Aittomäki, Kristiina; Lazaro, Conxi; Blanco, Ignacio; Barkardottir, Rosa B.; Montagna, Marco; D'Andrea, Emma; Devilee, Peter; Olopade, Olufunmilayo I.; Neuhausen, Susan L.; Peissel, Bernard; Bonanni, Bernardo; Peterlongo, Paolo; Singer, Christian F.; Rennert, Gad; Lejbkowicz, Flavio; Andrulis, Irene L.; Glendon, Gord; Ozcelik, Hilmi; Toland, Amanda Ewart; Caligo, Maria Adelaide; Beattie, Mary S.; Chan, Salina; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Phelan, Catherine; Narod, Steven; John, Esther M.; Hopper, John L.; Buys, Saundra S.; Daly, Mary B.; Southey, Melissa C.; Terry, Mary-Beth; Tung, Nadine; Hansen, Thomas v. O.; Osorio, Ana; Benitez, Javier; Durán, Mercedes; Weitzel, Jeffrey N.; Garber, Judy; Hamann, Ute; Peock, Susan; Cook, Margaret; Oliver, Clare T.; Frost, Debra; Platte, Radka; Evans, D. Gareth; Eeles, Ros; Izatt, Louise; Paterson, Joan; Brewer, Carole; Hodgson, Shirley; Morrison, Patrick J.; Porteous, Mary; Walker, Lisa; Rogers, Mark T.; Side, Lucy E.; Godwin, Andrew K.; Schmutzler, Rita K.; Wappenschmidt, Barbara; Laitman, Yael; Meindl, Alfons; Deissler, Helmut; Varon-Mateeva, Raymonda; Preisler-Adams, Sabine; Kast, Karin; Venat-Bouvet, Laurence; Stoppa-Lyonnet, Dominique; Chenevix-Trench, Georgia; Easton, Douglas F.; Klein, Robert J.; Daly, Mark J.; Friedman, Eitan; Dean, Michael; Clark, Andrew G.; Altshuler, David M.; Antoniou, Antonis C.; Couch, Fergus J.; Offit, Kenneth; Gold, Bert

2011-01-01

Abstract Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage dis-equilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of BRCA1 and BRCA2 mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the BRCA1 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the BRCA2 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews. PMID:21597964

Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives

PubMed Central

Gupte, Manisha; Alcalay, Roy N.; Mejia-Santana, Helen; Raymond, Deborah; Saunders-Pullman, Rachel; Roos, Ernest; Orbe-Reily, Martha; Tang, Ming-X; Mirelman, Anat; Ozelius, Laurie; Orr-Urtreger, Avi; Clark, Lorraine; Giladi, Nir; Bressman, Susan

2014-01-01

Our objective was to explore interest in genetic testing among Ashkenazi Jewish (AJ) Parkinson’s Disease (PD) cases and first-degree relatives, as genetic testing for LRRK2 G2019S is widely available. Approximately 18 % of AJ PD cases carry G2019S mutations; penetrance estimations vary between 24 and 100 % by age 80. A Genetic Attitude Questionnaire (GAQ) was administered at two New York sites to PD families unaware of LRRK2 G2019S mutation status. The association of G2019S, age, education, gender and family history of PD with desire for genetic testing (outcome) was modeled using logistic regression. One-hundred eleven PD cases and 77 relatives completed the GAQ. Both PD cases and relatives had excellent PD-specific genetic knowledge. Among PD, 32.6 % “definitely” and 41.1 % “probably” wanted testing, if offered “now.” Among relatives, 23.6 % “definitely” and 36.1 % “probably” wanted testing “now.” Desire for testing in relatives increased incrementally based on hypothetical risk of PD. The most important reasons for testing in probands and relatives were: if it influenced medication response, identifying no mutation, and early prevention and treatment. In logistic regression, older age was associated with less desire for testing in probands OR=0.921 95%CI 0.868–0.977, p=0.009. Both probands and relatives express interest in genetic testing, despite no link to current treatment or prevention. PMID:25127731

The time and place of European admixture in Ashkenazi Jewish history.

PubMed

Xue, James; Lencz, Todd; Darvasi, Ariel; Pe'er, Itsik; Carmi, Shai

2017-04-01

The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and Middle-Eastern (ME) components. However, both the time and place of admixture are subject to debate. Here, we attempt to characterize the AJ admixture history using a careful application of new and existing methods on a large AJ sample. Our main approach was based on local ancestry inference, in which we first classified each AJ genomic segment as EU or ME, and then compared allele frequencies along the EU segments to those of different EU populations. The contribution of each EU source was also estimated using GLOBETROTTER and haplotype sharing. The time of admixture was inferred based on multiple statistics, including ME segment lengths, the total EU ancestry per chromosome, and the correlation of ancestries along the chromosome. The major source of EU ancestry in AJ was found to be Southern Europe (≈60-80% of EU ancestry), with the rest being likely Eastern European. The inferred admixture time was ≈30 generations ago, but multiple lines of evidence suggest that it represents an average over two or more events, pre- and post-dating the founder event experienced by AJ in late medieval times. The time of the pre-bottleneck admixture event, which was likely Southern European, was estimated to ≈25-50 generations ago.

The time and place of European admixture in Ashkenazi Jewish history

PubMed Central

Xue, James; Lencz, Todd; Darvasi, Ariel; Pe’er, Itsik

2017-01-01

The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and Middle-Eastern (ME) components. However, both the time and place of admixture are subject to debate. Here, we attempt to characterize the AJ admixture history using a careful application of new and existing methods on a large AJ sample. Our main approach was based on local ancestry inference, in which we first classified each AJ genomic segment as EU or ME, and then compared allele frequencies along the EU segments to those of different EU populations. The contribution of each EU source was also estimated using GLOBETROTTER and haplotype sharing. The time of admixture was inferred based on multiple statistics, including ME segment lengths, the total EU ancestry per chromosome, and the correlation of ancestries along the chromosome. The major source of EU ancestry in AJ was found to be Southern Europe (≈60–80% of EU ancestry), with the rest being likely Eastern European. The inferred admixture time was ≈30 generations ago, but multiple lines of evidence suggest that it represents an average over two or more events, pre- and post-dating the founder event experienced by AJ in late medieval times. The time of the pre-bottleneck admixture event, which was likely Southern European, was estimated to ≈25–50 generations ago. PMID:28376121

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

PubMed Central

Vasconcelos, O; Sivakumar, K; Dalakas, M C; Quezado, M; Nagle, J; Leon-Monzon, M; Dubnick, M; Gajdusek, D C; Goldfarb, L G

1995-01-01

Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). Previously described molecular defects include base substitutions altering encoded amino acids or resulting in abnormal splicing. We report a mutation resulting in phosphofructokinase deficiency in three patients from an Ashkenazi Jewish family. Using a reverse transcription PCR assay, PFKM subunit transcripts differing by length were detected in skeletal muscle tissue of all three affected subjects. In the longer transcript, an insertion of 252 nucleotides totally homologous to the structure of the 10th intron of the PFKM gene was found separating exon 10 from exon 11. In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. Single-stranded conformational polymorphism and restriction enzyme analyses confirmed the presence of these point substitutions in genomic DNA and strongly suggested homozygosity for the pathogenic allele. The nonsense mutation at codon 95 appeared solely responsible for the phenotype in these patients, further expanding genetic heterogeneity of Tarui disease. Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene. Images Fig. 2 Fig. 4 Fig. 5 PMID:7479776

Gaucher disease: A G[sup +1][yields]A[sup +1] IVS2 splice donor site mutation causing exon 2 skipping in the acid [beta]-glucosidase mRNA

DOE Office of Scientific and Technical Information (OSTI.GOV)

He, Guo-Shun; Grabowski, G.A.

1992-10-01

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent Jewish genetic disease. About 30 identified missense mutations are causal to the defective activity of acid [beta]-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-years-old, enzyme-deficient, 1226G (Asn[sup 370][yields]Ser [N370S]) homozygous grandfather was nearly asymptomatic. Sequence analyses revealed four populations of cDNAs with either the 1226G mutation, an exact exon 2 ([Delta] EX2) deletion, a deletion of exon 2 and the first 115 bp of exon 3 ([Delta] EX2-3), or a completely normal sequence. Aboutmore » 50% of the cDNAs were the [Delta] EX2, the [Delta] EX2-3, and the normal cDNAs, in a ratio of 6:3:1. Specific amplification and characterization of exon 2 and 5[prime] and 3[prime] intronic flanking sequences from the structural gene demonstrated clones with either the normal sequence or with a G[sup +1][yields]A[sup +1] transition at the exon 2/intron 2 boundary. This mutation destroyed the splice donor consensus site (U1 binding site) for mRNA processing. This transition also was present at the corresponding exon/intron boundary of the highly homologous pseudogene. This new mutation, termed [open quotes]IVS2 G[sup +1],[close quotes] is the first in the Ashkenazi Jewish population. The occurrence of this [open quotes]pseudogene[close quotes]-type mutation in the structural gene indicates the role of acid [beta]-glucosidase pseudogene and structural gene rearrangements in the pathogenesis of this disease. 33 refs., 8 figs., 1 tab.« less

Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers

PubMed Central

Finkelman, Brian S.; Rubinstein, Wendy S.; Friedman, Sue; Friebel, Tara M.; Dubitsky, Shera; Schonberger, Niecee Singer; Shoretz, Rochelle; Singer, Christian F.; Blum, Joanne L.; Tung, Nadine; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Snyder, Carrie; Garber, Judy E.; Schildkraut, Joellen; Daly, Mary B.; Isaacs, Claudine; Pichert, Gabrielle; Neuhausen, Susan L.; Couch, Fergus J.; van't Veer, Laura; Eeles, Rosalind; Bancroft, Elizabeth; Evans, D. Gareth; Ganz, Patricia A.; Tomlinson, Gail E.; Narod, Steven A.; Matloff, Ellen; Domchek, Susan; Rebbeck, Timothy R.

2012-01-01

Purpose Mutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction. Methods Our cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status. Results Ninety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups. Conclusion Consistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care. PMID:22430266

BRCA1 and BRCA2 germline mutations in lymphoma patients.

PubMed

Yossepowitch, Orit; Olvera, Narciso; Satagopan, Jaya M; Huang, Helen; Jhanwar, Sabrina; Rapaport, Beth; Boyd, Jeff; Offit, Kenneth

2003-01-01

Mutations in the BRCA1 and BRCA2 tumor suppressor genes are associated with an increased risk for breast and ovarian cancers as well as other types of malignancies. The observation of a germline BRCA1 mutation in an index case with a lymphoid neoplasm in the setting of a family history of breast cancer prompted us to explore the role of BRCA germline mutations as lymphoma susceptibility alleles. A panel of 286 DNA samples from Jewish lymphoma patients was analyzed for the three most frequent BRCA1 and BRCA2 germline mutations in those of Ashkenazi Jewish heritage, and compared to a cohort of 5010 DNA samples from healthy controls. Of the 286 cases, 2 patients carried a germline BRCA mutation; both were diagnosed at an early age with an intermediate grade non-Hodgkin's lymphoma. This data indicate that germline BRCA mutations are not associated with an increased risk for lymphoid malignancies.

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

PubMed Central

Goldstein, Orly; Nayshool, Omri; Nefussy, Beatrice; Traynor, Bryan J.; Renton, Alan E.; Gana-Weisz, Mali; Drory, Vivian E.

2016-01-01

Objective: To detect genetic variants underlying familial and sporadic amyotrophic lateral sclerosis (ALS). Methods: We analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls. Exome sequencing of 2 sisters with ALS from Morocco was followed by genotyping the identified causative null mutation in 379 unrelated patients with ALS and 1,000 controls. The shared risk haplotype was characterized using whole-genome single nucleotide polymorphism array. Results: We identified 5 unrelated patients with ALS homozygous for the null 691_692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi. We also identified a high frequency of heterozygous carriers among patients with ALS, 8.7% and 2.9%, respectively, compared to 0.75% and 1.0% in controls. The risk of carriers for ALS was significantly increased, with odds ratio of 13.46 and 2.97 in Moroccan and Ashkenazi Jews, respectively. We determined that 691_692insAG is a founder mutation in the tested populations with a minimal risk haplotype of 58.5 Kb, encompassing the entire OPTN gene. Conclusions: Our data show that OPTN 691_692insAG mutation is a founder mutation in Moroccan and Ashkenazi Jews. This mutation causes autosomal recessive ALS and significantly increases the risk to develop the disease in heterozygous carriers, suggesting both a recessive mode of inheritance and a dominant with incomplete penetrance. These data emphasize the important role of OPTN in ALS pathogenesis, and demonstrate the complex genetics of ALS, as the same mutation leads to different phenotypes and appears in 2 patterns of inheritance. PMID:26740678

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

PubMed Central

Rivas, Manuel A.; Avila, Brandon E.; Koskela, Jukka; Stevens, Christine; Pirinen, Matti; Neale, Benjamin M.; Ganna, Andrea; Graham, Daniel; Glaser, Benjamin; Peter, Inga; Atzmon, Gil; Barzilai, Nir; Levine, Adam P.; Schiff, Elena; Weisburd, Ben; Lek, Monkol; Bloom, Jonathan; Minikel, Eric V.; Petersen, Britt-Sabina; Beaugerie, Laurent; Seksik, Philippe; Cosnes, Jacques; Schreiber, Stefan; Bokemeyer, Bernd; Bethge, Johannes; Ahmad, Tariq; Plagnol, Vincent; Segal, Anthony W.; Targan, Stephan; Turner, Dan; Saavalainen, Paivi; Farkkila, Martti; Kontula, Kimmo; Palotie, Aarno; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Weersma, Rinse K.; Franke, Andre; Jostins, Luke; Barrett, Jeffrey C.; MacArthur, Daniel G.; Jalas, Chaim; Sokol, Harry; Xavier, Ramnik J.; Pulver, Ann; Cho, Judy H.; McGovern, Dermot P. B.; Daly, Mark J.

2018-01-01

As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. Arising via a well-described founder effect approximately 30 generations ago, this catalog of enriched alleles can contribute to differences in genetic risk and overall prevalence of diseases between populations. As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10–100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). We next sought to use this catalog, of well-established relevance to Mendelian disease, to explore Crohn's disease, a common disease with an estimated two to four-fold excess prevalence in AJ. We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel contributing alleles, show evidence of association to CD. Independently, we find that genomewide common variant risk defined by GWAS shows a strong difference between AJ and non-AJ European control population samples (0.97 s.d. higher, p<10−16). Taken together, the results suggest coordinated selection in AJ population for higher CD risk alleles in general. The results and approach illustrate the value of exome sequencing data in case-control studies along with reference data sets like ExAC (sites VCF available via FTP at ftp.broadinstitute.org/pub/ExAC_release/release0.3/) to pinpoint genetic variation that contributes to variable disease predisposition across populations. PMID:29795570

Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.

PubMed

Manchanda, Ranjit; Burnell, Matthew; Loggenberg, Kelly; Desai, Rakshit; Wardle, Jane; Sanderson, Saskia C; Gessler, Sue; Side, Lucy; Balogun, Nyala; Kumar, Ajith; Dorkins, Huw; Wallis, Yvonne; Chapman, Cyril; Tomlinson, Ian; Taylor, Rohan; Jacobs, Chris; Legood, Rosa; Raikou, Maria; McGuire, Alistair; Beller, Uziel; Menon, Usha; Jacobs, Ian

2016-07-01

Newer approaches to genetic counselling are required for population-based testing. We compare traditional face-to-face genetic counselling with a DVD-assisted approach for population-based BRCA1/2 testing. A cluster-randomised non-inferiority trial in the London Ashkenazi Jewish population. Ashkenazi Jewish men/women >18 years; exclusion criteria: (a) known BRCA1/2 mutation, (b) previous BRCA1/2 testing and (c) first-degree relative of BRCA1/2 carrier. Ashkenazi Jewish men/women underwent pre-test genetic counselling prior to BRCA1/2 testing in the Genetic Cancer Prediction through Population Screening trial (ISRCTN73338115). Genetic counselling clinics (clusters) were randomised to traditional counselling (TC) and DVD-based counselling (DVD-C) approaches. DVD-C involved a DVD presentation followed by shorter face-to-face genetic counselling. Outcome measures included genetic testing uptake, cancer risk perception, increase in knowledge, counselling time and satisfaction (Genetic Counselling Satisfaction Scale). Random-effects models adjusted for covariates compared outcomes between TC and DVD-C groups. One-sided 97.5% CI was used to determine non-inferiority. relevance, satisfaction, adequacy, emotional impact and improved understanding with the DVD; cost-minimisation analysis for TC and DVD-C approaches. 936 individuals (clusters=256, mean-size=3.6) were randomised to TC (n=527, clusters=134) and DVD-C (n=409, clusters=122) approaches. Groups were similar at baseline, mean age=53.9 (SD=15) years, women=66.8%, men=33.2%. DVD-C was non-inferior to TC for increase in knowledge (d=-0.07; lower 97.5% CI=-0.41), counselling satisfaction (d=-0.38, 97.5% CI=1.2) and risk perception (d=0.08; upper 97.5% CI=3.1). Group differences and CIs did not cross non-inferiority margins. DVD-C was equivalent to TC for uptake of genetic testing (d=-3%; lower/upper 97.5% CI -7.9%/1.7%) and superior for counselling time (20.4 (CI 18.7 to 22.2) min reduction (p<0.005)). 98% people found the DVD length and information satisfactory. 85-89% felt it improved their understanding of risks/benefits/implications/purpose of genetic testing. 95% would recommend it to others. The cost of genetic counselling for DVD-C=£7787 and TC=£17 307. DVD-C resulted in cost savings=£9520 (£14/volunteer). DVD-C is an effective, acceptable, non-inferior, time-saving and cost-efficient alternative to TC. ISRCTN 73338115. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beutler, E.; Gelbart, T.; Kuhl, W.

1991-12-01

Gaucher disease is an autosomal recessive glycolipid storage disease characterized by a deficiency of glucocerebrosidase. The disease is most common in persons of Ashkenazi Jewish ancestry and the most common mutation, accounting for about 75% of the mutant alleles in this population, is known to be an A {yields} G substitution at cDNA nucleotide (nt) 1,226. Screening for this disease has not been possible because nearly 25% of the mutant alleles had not been identified, but linkage analysis led to the suggestion that most of these could be accounted for by a single mutation. The authors now report the discoverymore » of this mutation. The insertion of a single nucleotide, a second guanine at cDNA nt 84 (the 84GG mutation), has been detected in the 5{prime} coding region of the glucocerebrosidase gene. The amount mRNA produced is shown to be normal but since the frameshift produces early termination, no translation product is seen. This finding is consistent with the virtual absence of antigen found in patients carrying this mutation. The 84GG mutation accounts for most of the previously unidentified Gaucher disease mutations in Jewish patients. The common Jewish mutation at nt 1,448 accounted for 95% of all of the Gaucher disease-producing alleles in 71 Jewish patients. This now makes it possible to screen for heterozygotes on a DNA level with a relatively low risk of missing couples at risk for producing infants with Gaucher disease.« less

Differential effects of severe vs mild GBA mutations on Parkinson disease.

PubMed

Gan-Or, Ziv; Amshalom, Idan; Kilarski, Laura L; Bar-Shira, Anat; Gana-Weisz, Mali; Mirelman, Anat; Marder, Karen; Bressman, Susan; Giladi, Nir; Orr-Urtreger, Avi

2015-03-03

To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD). We analyzed 1,000 patients of Ashkenazi-Jewish descent with PD for 7 founder GBA mutations, and conducted a meta-analysis of risk and AAO according to GBA genotype (severe or mild mutation). The meta-analysis included 11,453 patients with PD and 14,565 controls from worldwide populations. The statistical analysis was done with and without continuity correction (constant or empirical), considering biases that could potentially affect the results. Among Ashkenazi-Jewish patients with PD, the odds ratios for PD were 2.2 and 10.3 for mild and severe GBA mutation carriers, respectively. The observed frequency of severe GBA mutation carriers among patients with PD was more than 4-fold than expected (4.4% vs 0.9%, respectively, p < 0.0001, Fisher exact test). In the different models of the meta-analysis, the odds ratios for PD ranged between 2.84 and 4.94 for mild GBA mutation carriers and 9.92 and 21.29 for severe GBA mutation carriers (p < 1 × 10(-6) for all analyses). Pooled analysis demonstrated AAO of 53.1 (±11.2) and 58.1 (±10.6) years for severe and mild GBA mutation carriers, respectively (p = 4.3 × 10(-5)). These data demonstrate that mild and severe heterozygous GBA mutations differentially affect the risk and the AAO of PD. Our results have important implications for genetic counseling and clinical follow-up. © 2015 American Academy of Neurology.

Parkinson Disease Phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

PubMed Central

Alcalay, Roy N.; Mirelman, Anat; Saunders-Pullman, Rachel; Tang, Ming-X; Santana, Helen Mejia; Raymond, Deborah; Roos, Ernest; Orbe-Reilly, Martha; Gurevich, Tanya; Shira, Anat Bar; Weisz, Mali Gana; Yasinovsky, Kira; Zalis, Maayan; Thaler, Avner; Deik, Andres; Barrett, Matthew James; Cabassa, Jose; Groves, Mark; Hunt, Ann L.; Lubarr, Naomi; Luciano, Marta San; Miravite, Joan; Palmese, Christina; Sachdev, Rivka; Sarva, Harini; Severt, Lawrence; Shanker, Vicki; Swan, Matthew Carrington; Soto-Valencia, Jeannie; Johannes, Brooke; Ortega, Robert; Fahn, Stanley; Cote, Lucien; Waters, Cheryl; Mazzoni, Pietro; Ford, Blair; Louis, Elan; Levy, Oren; Rosado, Llency; Ruiz, Diana; Dorovski, Tsvyatko; Pauciulo, Michael; Nichols, William; Orr-Urtreger, Avi; Ozelius, Laurie; Clark, Lorraine; Giladi, Nir; Bressman, Susan; Marder, Karen S

2013-01-01

Background The phenotype of Parkinson disease (PD) patients with and without LRRK2 G2019S mutations is reported to be similar; however large uniformly evaluated series are lacking. Objective To characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. Methods We studied 553 AJ PD patients, including 65 patients who were previously reported, from three sites (two in New York and one in Tel-Aviv). GBA mutation carriers were excluded. Evaluations included the Montreal Cognitive Assessment (MoCA), the Unified Parkinson's Disease Rating Scale (UPDRS), the geriatric depression scale (GDS) and the non-motor symptoms (NMS) questionnaire. Regression models were constructed to test the association between clinical and demographic features and LRRK2 status (outcome) in 488 newly recruited participants. Results LRRK2 G2019S carriers (n=97) and non-carriers (n=391) were similar in age and age-at-onset of PD. Carriers had longer disease duration (8.6years versus 6.1years, p<0.001), were more likely to be women (51.5% versus 37.9%, p=0.015) and more often reported first symptoms in lower extremities (40.0% versus 19.2%, p<0.001). In logistic models adjusted for age, disease duration, gender, education, and site, carriers were more likely to have lower extremity onset (p<0.001), postural instability gait difficulty (PIGD, p=0.043) and persistent levodopa response for>5 years (p=0.042). Performance on UPDRS, MoCA, GDS and NMS did not differ by mutation status. Conclusion PD in AJ-LRRK2 G2019S mutation carriers is similar to idiopathic PD, but characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment. PMID:24243757

Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.

PubMed

Kohut, Kelly; D'Mello, Lucia; Bancroft, Elizabeth K; Thomas, Sarah; Young, Mary-Anne; Myhill, Kathryn; Shanley, Susan; Briggs, Brian H J; Newman, Michelle; Saraf, Ifthikhar M; Cox, Penny; Scambler, Sarah; Wagman, Lyndon; Wyndham, Michael T; Eeles, Rosalind A; Ferris, Michelle

2012-03-01

At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment area, 62% of those who returned a family history questionnaire were from this ethnic group and of those returned, 44% warranted referral to a cancer genetics unit. In the non Ashkenazim, the questionnaire return rate was 38% and 18% of those warranted referral to cancer genetics.

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kramer, P.L.; Heiman, G.A.; Leon, D. de

1994-09-01

Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent markers within a 2-cM region. The associated haplotype occurs in >90% of early limb-onset AJ cases. The authors examined seven non-Jewish ITD families of northern European and French Canadian descent to determine the extent to which early-onset ITD in non-Jews maps to DYT1. Results are consistent with linkage to the DYT1 region. Affected individualsmore » in these families are clinically similar to the AJ cases, i.e., the site of onset is predominantly in the limbs and at least one individual in each pedigree had onset before age 12 years. None carries the AJ haplotype; therefore, they probably represent different mutations in the DYT1 gene. The two French Canadian families, however, display the same haplotype. Estimates of penetrance in non-Jewish families range from .40 to .75. They identified disease gene carriers and, with adjustments for age at onset, obtained a direct estimate of penetrance of .46. This is consistent with estimates of 30%-40% in the AJ population. Two other non-Jewish families with atypical ITD (later onset and/or cranial or cervical involvement) are not linked to DYT1, which indicates involvement of other genes in dystonia. 26 refs., 1 fig., 3 tabs.« less

Family-based association study of 5-HT(2A) receptor T102C polymorphism and suicidal behavior in Ashkenazi inpatient adolescents.

PubMed

Zalsman, Gil; Frisch, Amos; Baruch-Movshovits, Ruth; Sher, Leo; Michaelovsky, Elena; King, Robert A; Fischel, Tsvi; Hermesh, Haggai; Goldberg, Pablo; Gorlyn, Marianne; Misgav, Sagit; Apter, Alan; Tyano, Sam; Weizman, Abraham

2005-01-01

Suicidal behavior runs in families and is partially genetically determined. Since greater serotonin 5-HT(2A) receptor binding has been reported in postmortem brain and platelets of suicide victims, the 5-HT(2A) receptor gene polymorphism T102C became one of the candidate sites in the study of suicide and impulsive-aggressive traits. However, studies that examined the association of this polymorphism with suicidality have contradictory results. This study used a family-based method and one homogenous ethnic group to overcome ethnic stratification in order to test this association. Thirty families of inpatient adolescents from Jewish Ashkenazi origin, with a recent suicide attempt, were genotyped. All subjects were interviewed for clinical diagnosis, depressive and impulsive-aggressive traits and demographic data. Allele frequencies were assessed using the Haplotype Relative Risk method for trios. No difference was found in allelic distribution between transmitted and non-transmitted alleles. There was no significant association of genotype with any of the clinical traits These preliminary results suggest that the 5-HT(2A) T102C polymorphism is unlikely to be associated with suicidal behavior and related traits in adolescent suicide attempters.

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

PubMed Central

2011-01-01

About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort. PMID:22185575

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

PubMed

Shao, Yunru; Liu, Shuling; Grinzaid, Karen

2015-04-01

Improvements in genetic testing technologies have led to the development of expanded carrier screening panels for the Ashkenazi Jewish population; however, there are major inconsistencies in current screening practices. A 2-year pilot program was launched in Atlanta in 2010 to promote and facilitate screening for 19 Jewish genetic diseases. We analyzed data from this program, including participant demographics and outreach efforts. This retrospective analysis is based on a de-identified dataset of 724 screenees. Data were obtained through medical chart review and questionnaires and included demographic information, screening results, response to outreach efforts, and follow-up behavior and preferences. We applied descriptive analysis, chi-square tests, and logistic regression to analyze the data and compare findings with published literature. The majority of participants indicated that they were not pregnant or did not have a partner who was pregnant were affiliated with Jewish organizations and reported 100 % AJ ancestry. Overall, carrier frequency was 1 in 3.9. Friends, rabbis, and family members were the most common influencers of the decision to receive screening. People who were older, had a history of pregnancy, and had been previously screened were more likely to educate others (all p < 0.05). Analysis of this 2-year program indicated that people who are ready to have children or expand their families are more likely to get screened and encourage others to be screened. The most effective outreach efforts targeted influencers who then encouraged screening in the target population. Educating influencers and increasing overall awareness were the most effective outreach strategies.

BRCA germline mutations in women with uterine serous carcinoma--still a debate.

PubMed

Lavie, Ofer; Ben-Arie, Alon; Segev, Yakir; Faro, Jonathan; Barak, Frida; Haya, Nir; Auslender, Ron; Gemer, Ofer

2010-12-01

To determine the incidence of BRCA1 and BRCA2 mutations in an enlarged series of uterine serous carcinoma (USC) patients and to determine whether patients with USC are associated with a personal or familial history of breast or ovarian carcinoma. A cohort of all consecutive patients with diagnosed USC was identified for 9 years. Family pedigrees were drawn as far back and laterally as possible. In all patients, genomic DNA was extracted from peripheral blood samples and analyzed for the 3 mutations common in Ashkenazi Jewish patients. All patients went through total abdominal hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. Tubal, ovarian, and peritoneal carcinoma were ruled out clinically and pathologically in all patients. Of 51 consecutive patients with USC in Ashkenazi Jews studied, we identified 13 patients (25.5%) who were previously found to have breast carcinoma, 17 patients (33.3%) who had a first-degree relative with breast or ovarian carcinoma, and 8 patients (15.7%) who were found to be carriers of 1 of the 3 BRCA germline mutations. This series of USC patients, the largest consecutive series to date, suggests a higher incidence of BRCA carriers among Ashkenazi Jews as compared with the general population. This high rate of BRCA germline mutations in USC patients coupled with a high rate of personal and familial cancer histories may suggest that USC is associated with the hereditary breast-ovarian syndrome. This potential association of USC to the BRCA-associated cancer spectrum may have implications for the clinical management and intervention of unaffected BRCA1-2 germline mutation carriers. However, at the current time, there are insufficient data to provide evidence-based guidelines regarding the optimal timing or specific intervention to prevent cancers in these high-risk women.

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer

PubMed Central

Tischkowitz, Marc D.; Yilmaz, Ahmet; Chen, Long Q.; Karyadi, Danielle M.; Novak, David; Kirchhoff, Tomas; Hamel, Nancy; Tavtigian, Sean V.; Kolb, Suzanne; Bismar, Tarek A.; Aloyz, Raquel; Nelson, Peter S.; Hood, Lee; Narod, Steven A.; White, Kirsten A.; Ostrander, Elaine A.; Isaacs, William B.; Offit, Kenneth; Cooney, Kathleen A.; Stanford, Janet L.; Foulkes, William D.

2010-01-01

Checkpoint kinase 2 (CHEK2) is a protein involved in arresting cell cycle in response to DNA damage. To investigate whether it plays an important role in the development of prostate cancer (PRCA) in the Ashkenazi Jewish (AJ) population, we sequenced CHEK2 in 75 AJ individuals with prostate, breast, or no cancer (n = 25 each). We identified seven coding SNPs (five are novel) that changed the amino acid sequence, resulting in R3W, E394F, Y424H, S428F, D438Y, P509S, and P509L. We determined the frequency of each variant in 76 AJ families collected by members of the International Consortium for Prostate Cancer Genetics (ICPCG) where ≥ 2 men were affected by PRCA. Only one variant, Y424H in exon 11, was identified in more than two families. Exon 11 was then screened in nine additional AJ ICPCG families (a total of 85 families). The Y424H variant occurred in nine affected cases from four different families; however it did not completely segregate with the disease. We performed bioinformatics analysis, which showed that Y424H is a non-conservative missense substitution that falls at a position that is invariant in vertebrate CHEK2 orthologs. Both SIFT and Align-GVGD predict that Y424H is a loss of function mutation, however the frequency of Y424H was not significantly different between unselected AJ cases from Montreal/Memorial Sloan Kettering Cancer Centre (MSKCC) and AJ controls from Israel/MSKCC (OR 1.18, 95%CI: 0.34–4.61, p=.99). Moreover, functional assays using S. Cerevisae revealed that the Y424H substitution did not alter function of CHEK2 protein. Although we cannot rule out a subtle influence of the CHEK2 variants on PRCA risk, these results suggest that germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men. PMID:18571837

Name-changes in post-war France: the traumatic experiences of the Shoah and its consequences on the second and third generation with reference to the example of name-changes.

PubMed

Masson, Céline

2013-02-01

Starting from our collective initiative to work on the theme of 'The strength of the name', which has given rise both to a conference as well as a documentary called: And their name, they have changed it, I have sought to draw attention in this article to the difference between proper names, patronymic names, and the so-called Name-of-the-father. Pronouncing names involves designating the languages of names, which also refer to the accents of names, since I have proposed the idea that each name is evocative of a language, and that changing it also modifies the language of the name. I have approached the question of the name by considering cases of name-changes, essential with regard to Ashkenazi Jewish families who changed their name after the Shoah, along with the trauma that numerous Jewish families suffered after the war. French jurisprudence does not permit reversion to the original name, once it has been changed to a more French-sounding name, owing to the immutability of the name and the foreign sound of the names of origin. Copyright © 2013 Institute of Psychoanalysis.

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

PubMed

Gatto, Emilia Mabel; Parisi, Virginia; Converso, Daniela Paola; Poderoso, Juan José; Carreras, María Cecilia; Martí-Massó, José Felix; Paisán-Ruiz, Coro

2013-03-14

To determine clinical characteristics and frequency of leucine-rich repeat kinase 2 gene (LRRK2) mutations in a cohort of patients with Parkinson's disease (PD) from Argentina. Variation in the LRRK2 gene represents the most common genetic determinant of PD, only few data are available from Latin-America. Informed consent was obtained and all studies were approved by the Institutional Review Boards. Fifty five consecutive PD patients were recruited. A structured interview and neurological examination were used to collect demographic and clinical information. Blood samples were obtained and DNA extracted from patient venous blood. All LRRK2 exons from 25 exon to 51 exon were screened in all patients. Clinical and molecular data of 55 patients with PD were analyzed. Mean age was 68.8±10.6 years. Jewish and Basque ancestries were found positive in 9 and 7 patients, respectively; family history of PD was identified in 16 patients. The G2019S mutation was present in 3 Ashkenazi Jewish subjects (5.45%); all of them reported family history of PD in first-degree relatives. Although Argentina possesses one of the most important Basque communities outside Spain, non R1414G mutation was identified in this cohort. Eleven single polymorphisms (SNP) were identified in this cohort. The mean age at onset was higher in G2019S mutation carriers than non-carriers (66.67 vs 58.78 years). Asymmetrical tremor as initial symptom and non-motor symptoms occurred at similar frequencies in both groups. The G2019S mutation carriers showed a non significant increase in dyskinesias, and 2/3 developed Dopamine Dysregulation Syndrome and visual hallucinations. Systemic disorder identified in G2019S mutation carriers included: celiac disease, hypothyroidism, Hashimoto's Thyroiditis and arterial hypertension. The prevalence of LRRK2 G2019S mutation in this Argentinean cohort was similar to other international series, with a higher prevalence in Ashkenazi Jewish. The phenotype was indistinguishable from patients with idiopathic PD. Interestingly, we identified immune mediated disorders in two PD patients carrying the G2019S mutation. Within this context, recent studies have identified full-length LRRK2 as a relatively common constituent of many cell types in the immune system including human peripheral blood mononuclear cells. Nevertheless, a casual association could not be excluded and the analysis of more extensive series is required. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

RNA Editing Genes Associated with Extreme Old Age in Humans and with Lifespan in C. elegans

PubMed Central

Puca, Annibale; Solovieff, Nadia; Kojima, Toshio; Wang, Meng C.; Melista, Efthymia; Meltzer, Micah; Fischer, Sylvia E. J.; Andersen, Stacy; Hartley, Stephen H.; Sedgewick, Amanda; Arai, Yasumichi; Bergman, Aviv; Barzilai, Nir; Terry, Dellara F.; Riva, Alberto; Anselmi, Chiara Viviani; Malovini, Alberto; Kitamoto, Aya; Sawabe, Motoji; Arai, Tomio; Gondo, Yasuyuki; Steinberg, Martin H.; Hirose, Nobuyoshi; Atzmon, Gil; Ruvkun, Gary; Baldwin, Clinton T.; Perls, Thomas T.

2009-01-01

Background The strong familiality of living to extreme ages suggests that human longevity is genetically regulated. The majority of genes found thus far to be associated with longevity primarily function in lipoprotein metabolism and insulin/IGF-1 signaling. There are likely many more genetic modifiers of human longevity that remain to be discovered. Methodology/Principal Findings Here, we first show that 18 single nucleotide polymorphisms (SNPs) in the RNA editing genes ADARB1 and ADARB2 are associated with extreme old age in a U.S. based study of centenarians, the New England Centenarian Study. We describe replications of these findings in three independently conducted centenarian studies with different genetic backgrounds (Italian, Ashkenazi Jewish and Japanese) that collectively support an association of ADARB1 and ADARB2 with longevity. Some SNPs in ADARB2 replicate consistently in the four populations and suggest a strong effect that is independent of the different genetic backgrounds and environments. To evaluate the functional association of these genes with lifespan, we demonstrate that inactivation of their orthologues adr-1 and adr-2 in C. elegans reduces median survival by 50%. We further demonstrate that inactivation of the argonaute gene, rde-1, a critical regulator of RNA interference, completely restores lifespan to normal levels in the context of adr-1 and adr-2 loss of function. Conclusions/Significance Our results suggest that RNA editors may be an important regulator of aging in humans and that, when evaluated in C. elegans, this pathway may interact with the RNA interference machinery to regulate lifespan. PMID:20011587

Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sibille, A.; Eng, C.M.; Kim, S.J.

1993-06-01

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among Ashkenazi Jews. Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. To test the hypothesis that this phenotypic variability was due to genetic compounds of several different mutant alleles, 161 symptomatic patients with Gaucher disease type 1 (> 90% Ashkenazi Jewish) were analyzed for clinical involvement, and their genotypes were determined. Qualitative and quantitative measures of disease involvement included age at onset of the disease manifestations, hepatic and splenic volumes, age at splenectomy, andmore » severity of bony disease. High statistically significant differences (P < .005) were found in each clinical parameter in patients with the N370S/N370S genotype compared with those patients with the N370S/84GG, N370S/L444P, and N370/ genotypes. The symptomatic N370S homozygotes had onset of their disease two to three decades later than patients with the other genotypes. In addition, patients with the latter genotypes have much more severely involved livers, spleens, and bones and had a higher incidence of splenectomy at an earlier age. These predictive genotype analyses provide the basis for genetic care delivery and therapeutic recommendations in patients affected with Gaucher disease type 1. 38 refs., 1 fig., 4 tabs.« less

High frequency of CYP2D6 ultrarapid metabolizer genotypes in an Ashkenazi Jewish population from Argentina.

PubMed

Moya, G; Dorado, P; Ferreiro, V; Naranjo, M E G; Peñas-Lledó, E M; LLerena, A

2017-07-01

A twofold higher frequency of CYP2D6 ultrarapid metabolizers (estimated from genotype: gUMs) was reported among Ashkenazi Jews (AJ) living in New York (USA) than in other North American Caucasians, which might be important to guide the prescription for CYP2D6 substrates in AJ communities around the world. This study was aimed to determine whether the high frequency of CYP2D6 gUMs described in AJ from USA was replicated in AJ from Argentina when compared with other multiethnic admixture Argentines (GA). The frequency of the most common allelic variants and of CYP2D6 gUMs (>2 active genes) and poor metabolizers (0 active genes, gPMs) was also compared among the studied Argentine populations. CYP2D6 genotyping was performed in 173 AJ and 246 GA DNA samples of unrelated donors from the metropolitan area of Buenos Aires. CYP2D6 alleles (*2, *3, *4, *5, *6, *10, *17, *35, *41 and multiple copies), genotypes and functional phenotype frequencies were determined. The frequencies of gUMs and gPMs in AJ from Argentina were 11.5% and 5.2%, respectively, whereas in GA, the frequencies of gUM and gPMs were 6.5% and 4.9%, respectively. Comparisons between AJ and GA showed that gUMs frequencies were twofold higher (P<0.05) in AJ than GA. CYP2D6*35 allele was more frequent in GA than AJ, whereas CYP2D6*41 and *1xN were more frequent in AJ than in GA (P<0.05). This study supports the previously reported high frequency of gUMs on another Ashkenazi population in New York. The present findings also support the interethnic variability of CYP2D6 genetic polymorphism in the overall Argentine population.

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

PubMed Central

Lin, Nancy U.; Kidd, John; Allen, Brian A.; Singh, Nanda; Wenstrup, Richard J.; Hartman, Anne-Renee; Winer, Eric P.; Garber, Judy E.

2016-01-01

Purpose Testing for germline mutations in BRCA1/2 is standard for select patients with breast cancer to guide clinical management. Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. The frequency of germline mutations detected by using NGS has been reported in patients with breast cancer who were referred for BRCA1/2 testing or with triple-negative breast cancer. We assessed the frequency and predictors of mutations in 25 cancer predisposition genes, including BRCA1/2, in a sequential series of patients with breast cancer at an academic institution to examine the utility of genetic testing in this population. Methods Patients with stages I to III breast cancer who were seen at a single cancer center between 2010 and 2012, and who agreed to participate in research DNA banking, were included (N = 488). Personal and family cancer histories were collected and germline DNA was sequenced with NGS to identify mutations. Results Deleterious mutations were identified in 10.7% of women, including 6.1% in BRCA1/2 (5.1% in non-Ashkenazi Jewish patients) and 4.6% in other breast/ovarian cancer predisposition genes including CHEK2 (n = 10), ATM (n = 4), BRIP1 (n = 4), and one each in PALB2, PTEN, NBN, RAD51C, RAD51D, MSH6, and PMS2. Whereas young age (P < .01), Ashkenazi Jewish ancestry (P < .01), triple-negative breast cancer (P = .01), and family history of breast/ovarian cancer (P = .01) predicted for BRCA1/2 mutations, no factors predicted for mutations in other breast cancer predisposition genes. Conclusion Among sequential patients with breast cancer, 10.7% were found to have a germline mutation in a gene that predisposes women to breast or ovarian cancer, using a panel of 25 predisposition genes. Factors that predict for BRCA1/2 mutations do not predict for mutations in other breast/ovarian cancer susceptibility genes when these genes are analyzed as a single group. Additional cohorts will be helpful to define individuals at higher risk of carrying mutations in genes other than BRCA1/2. PMID:26976419

Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

PubMed Central

2011-01-01

Background To date, nine Parkinson disease (PD) genome-wide association studies in North American, European and Asian populations have been published. The majority of studies have confirmed the association of the previously identified genetic risk factors, SNCA and MAPT, and two studies have identified three new PD susceptibility loci/genes (PARK16, BST1 and HLA-DRB5). In a recent meta-analysis of datasets from five of the published PD GWAS an additional 6 novel candidate genes (SYT11, ACMSD, STK39, MCCC1/LAMP3, GAK and CCDC62/HIP1R) were identified. Collectively the associations identified in these GWAS account for only a small proportion of the estimated total heritability of PD suggesting that an 'unknown' component of the genetic architecture of PD remains to be identified. Methods We applied a GWAS approach to a relatively homogeneous Ashkenazi Jewish (AJ) population from New York to search for both 'rare' and 'common' genetic variants that confer risk of PD by examining any SNPs with allele frequencies exceeding 2%. We have focused on a genetic isolate, the AJ population, as a discovery dataset since this cohort has a higher sharing of genetic background and historically experienced a significant bottleneck. We also conducted a replication study using two publicly available datasets from dbGaP. The joint analysis dataset had a combined sample size of 2,050 cases and 1,836 controls. Results We identified the top 57 SNPs showing the strongest evidence of association in the AJ dataset (p < 9.9 × 10-5). Six SNPs located within gene regions had positive signals in at least one other independent dbGaP dataset: LOC100505836 (Chr3p24), LOC153328/SLC25A48 (Chr5q31.1), UNC13B (9p13.3), SLCO3A1(15q26.1), WNT3(17q21.3) and NSF (17q21.3). We also replicated published associations for the gene regions SNCA (Chr4q21; rs3775442, p = 0.037), PARK16 (Chr1q32.1; rs823114 (NUCKS1), p = 6.12 × 10-4), BST1 (Chr4p15; rs12502586, p = 0.027), STK39 (Chr2q24.3; rs3754775, p = 0.005), and LAMP3 (Chr3; rs12493050, p = 0.005) in addition to the two most common PD susceptibility genes in the AJ population LRRK2 (Chr12q12; rs34637584, p = 1.56 × 10-4) and GBA (Chr1q21; rs2990245, p = 0.015). Conclusions We have demonstrated the utility of the AJ dataset in PD candidate gene and SNP discovery both by replication in dbGaP datasets with a larger sample size and by replicating association of previously identified PD susceptibility genes. Our GWAS study has identified candidate gene regions for PD that are implicated in neuronal signalling and the dopamine pathway. PMID:21812969

Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

PubMed Central

Fields, Randall R.; Zhou, Guimei; Huang, Dali; Davis, Jack R.; Möller, Claes; Jacobson, Samuel G.; Kimberling, William J.; Sumegi, Janos

2002-01-01

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5′ untranslated region, and a transcript encoding a 232–amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10. PMID:12145752

[Mucolipidoses type IV in a patient with mapuche ancestry].

PubMed

Hernández Ch, Marta; Méndez C, José Ignacio; Concha G, María José; Huete L, Isidro; González B, Sergio; Durán S, Gloria P

2008-07-01

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam of ataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differential diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electron microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.

Multi-center analysis of glucocerebrosidase mutations in Parkinson disease

PubMed Central

Sidransky, Ellen; Nalls, Michael A.; Aasly, Jan O.; Aharon-Peretz, Judith; Annesi, Grazia; Barbosa, Egberto Reis; Bar-Shira, Anat; Berg, Daniela; Bras, Jose; Brice, Alexis; Chen, Chiung-Mei; Clark, Lorraine N.; Condroyer, Christel; De Marco, Elvira Valeria; Dürr, Alexandra; Eblan, Michael J.; Fahn, Stanley; Farrer, Matthew; Fung, Hon-Chung; Gan-Or, Ziv; Gasser, Thomas; Gershoni-Baruch, Ruth; Giladi, Nir; Griffith, Alida; Gurevich, Tanya; Januario, Cristina; Kropp, Peter; Lang, Anthony E.; Lee-Chen, Guey-Jen; Lesage, Suzanne; Marder, Karen; Mata, Ignacio F.; Mirelman, Anat; Mitsui, Jun; Mizuta, Ikuko; Nicoletti, Giuseppe; Oliveira, Catarina; Ottman, Ruth; Orr-Urtreger, Avi; Pereira, Lygia V.; Quattrone, Aldo; Rogaeva, Ekaterina; Rolfs, Arndt; Rosenbaum, Hanna; Rozenberg, Roberto; Samii, Ali; Samaddar, Ted; Schulte, Claudia; Sharma, Manu; Singleton, Andrew; Spitz, Mariana; Tan, Eng-King; Tayebi, Nahid; Toda, Tatsushi; Troiano, André; Tsuji, Shoji; Wittstock, Matthias; Wolfsberg, Tyra G.; Wu, Yih-Ru; Zabetian, Cyrus P.; Zhao, Yi; Ziegler, Shira G.

2010-01-01

Background Recent studies indicate an increased frequency of mutations in the gene for Gaucher disease, glucocerebrosidase (GBA), among patients with Parkinson disease. An international collaborative study was conducted to ascertain the frequency of GBA mutations in ethnically diverse patients with Parkinson disease. Methods Sixteen centers participated, including five from the Americas, six from Europe, two from Israel and three from Asia. Each received a standard DNA panel to compare genotyping results. Genotypes and phenotypic data from patients and controls were analyzed using multivariate logistic regression models and the Mantel Haenszel procedure to estimate odds ratios (ORs) across studies. The sample included 5691 patients (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews). Results All 16 centers could detect GBA mutations, L444P and N370S, and the two were found in 15.3% of Ashkenazi patients with Parkinson disease (ORs = 4.95 for L444P and 5.62 for N370S), and in 3.2% of non-Ashkenazi patients (ORs = 9.68 for L444P and 3.30 for N370S). GBA was sequenced in 1642 non-Ashkenazi subjects, yielding a frequency of 6.9% for all mutations, demonstrate that limited mutation screens miss half the mutant alleles. The presence of any GBA mutation was associated with an OR of 5.43 across studies. Clinically, although phenotypes varied, subjects with a GBA mutation presented earlier, and were more likely to have affected relatives and atypical manifestations. Conclusion Data collected from sixteen centers demonstrate that there is a strong association between GBA mutations and Parkinson disease. PMID:19846850

The molecular basis of Canavan (Aspartoacylase deficiency) disease in European non-Jewish patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shaag, A.; Anikster, Y.; Glustein, J.Z.

Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable. In the present study, nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients. These included four point mutations (A305E [39.5% of the mutated alleles], C218X [15.8%], F2955 [2.6%], and G274R [5.3%]); four deletion mutations (827delGT [5.3%], 870del4 [2.6%], 566del7 [2.6%], and 527del6 [2.6%]); and one exon skip (527del108 [5.3%]). The A305E mutation is pan-European andmore » probably the most ancient mutation, identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin. In contrast, the G274R and 527del108 mutations were found only in patients of Turkish origin, and the C218X mutation was identified only in patients of Gypsy origin. Homozygosity for the A305E mutation was identified in patients with both the severe and the mild forms of Canavan disease. Mutations were identified in 31 of the 38 alleles, resulting in an overall detection rate of 81.6%. All nine mutations identified in non-Jewish patients reside in exons 4-6 of the aspartoacylase gene. The results would enable accurate genetic counseling in the families of 13 (68.4%) of 19 patients, in whom two mutations were identified in the aspartoacylase cDNA. 19 refs., 9 figs., 3 tabs.« less

Clinical profile of breast cancer in Arab and Jewish women in the Jerusalem area.

PubMed

Nissan, Aviram; Spira, Ram M; Hamburger, Tamar; Badrriyah, Mahmud; Prus, Diana; Cohen, Tzeela; Hubert, Ayala; Freund, Herbert R; Peretz, Tamar

2004-07-01

The clinical profile of breast cancer may vary among different ethnic groups living in the same country and therefore affect the yield of a breast cancer screening program. The present study attempts to better characterize the breast cancer clinical profile of Arab women compared with Jewish women in the greater Jerusalem area with a future aim of establishing a comprehensive and effective screening program for this population. Retrospective chart review was conducted and the following covariates were correlated with survival: ethnicity, age at diagnosis, and American Joint Committee on Cancer (TNM) stage at diagnosis. A total of 312 women were operated on for breast cancer between 1994 and 1999; 51% were Ashkenazi Jews (AJ), 26% were Sephardic Jews (SJ), 21% were Palestinian Arabs (PA), and 2% patients did not fit into those ethnic groups. The mean age at diagnosis was 51.5 years for the PA group, 53.4 +/- 1.5 for the SJ group, and 55.9 years for the AJ group (P <0.03 PA versus AJ). The tumor size (mean +/- SEM) was 38.8 +/- 3.7 mm, 31.1 +/- 2.4 mm, and 24.5 +/- 1.6 mm for the PA, SJ, and AJ groups, respectively (P = 0.03 for PA versus SJ and P <0.001 for PA versus AJ). Five-year overall survival was 77 %, 72%, and 58% for the AJ, SJ, and PA groups, respectively (P = 0.02); and 5-year disease-free survival was 72%, 51%, and 50% for the AJ, SJ, and PA groups, respectively (P = 0.03, AJ versus SJ). Our data demonstrate younger age and larger primary tumor size for the Arab patients compared with the Jewish patients. These findings were associated with lower 5-year survival and disease-free survival of the Arab patients.

Demographic, genetic and phenotypic characteristics of centenarians in Italy: Focus on gender differences.

PubMed

Montesanto, Alberto; De Rango, Francesco; Pirazzini, Chiara; Guidarelli, Giulia; Domma, Filippo; Franceschi, Claudio; Passarino, Giuseppe

2017-07-01

An impressive and coherent series of epidemiological data from different populations (New England Americans, Mormons, Ashkenazi Jewish, Icelandic, Okinawan Japanese, Italians) suggests that long-lived subjects able to reach the extreme limits of human life, such as centenarians and supercentenarians, represent an extraordinary and informative model to identify the mechanisms responsible for healthy aging and human longevity. In most studies, genetic, demographic and phenotypic characteristics of longevity are discussed separately. However, longevity is a very complex trait due to the complicated interactions of numerous genetic and environmental factors. It is therefore necessary to analyse centenarians with a multidimensional approach, trying to consider different aspects simultaneously. In this review we will focus on Italian centenarians, who have been extensively studied for many years with different approaches, in order to show their peculiarities and the emerging data from the studies carried out on this exceptional population. Copyright © 2017 Elsevier B.V. All rights reserved.

Gaucher disease: Physical, kinetic and immunologic investigations of human and canine acid. beta. -glucosidase

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fabbro, D.E.

1988-01-01

Kinetic and immunologic techniques were developed to investigate the nature of the acid {beta}-glucosidase ({beta}-Glc) defects which results in human and canine Gaucher disease (GD). Two new affinity columns, using the potent inhibitors of {beta}-Glc (N-alkyl-deoxynojirimycins) as affinity ligands, were synthesized and methods were developed to obtain homogeneous {beta}-Glc from normal human placenta. Polyclonal and monoclonal (representing 14 different epitopes from 18 clones) antibodies were produced to the pure normal {beta}-Glc. Monospecific polyclonal IgG and tritiated-bromo-conduritol B epoxide (({sup 3}H)Br-CBE), a specific covalent active site directed inhibitor of {beta}-Glc, were used to quantitate the functional catalytic sites in normal andmore » Type 1 Ashkenazi Jewish GD (AJGD) enzyme preparations: The k{sub cat} values for several new substrates with the mutant enzymes from spleen were about 1.5-fold less than the respective normal enzyme, indicating a nearly normal catalytic capacity of the mutant enzymes. Immunoblotting studies with polyclonal or several monoclonal antibodies indicated three molecular forms of {beta}-Glc (M{sub r} = 67,000, 62,000 to 65,000 and 58,000) in fibroblast extracts from normals and Type 1 AJGD patients. In comparison, only one form of cross-reacting immunologic material (CRIM) was detected in fibroblast extracts from Types 2 and 3 or several non-Jewish Type 1 GD patients.« less

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

PubMed

Kimchi, Adva; Khateb, Samer; Wen, Rong; Guan, Ziqiang; Obolensky, Alexey; Beryozkin, Avigail; Kurtzman, Shoshi; Blumenfeld, Anat; Pras, Eran; Jacobson, Samuel G; Ben-Yosef, Tamar; Newman, Hadas; Sharon, Dror; Banin, Eyal

2018-05-01

To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. Cohort study. Retinitis pigmentosa patients from 230 families of AJ origin. Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography. Inheritance pattern and causative mutation; retinal function as assessed by VA, visual fields, and electroretinography results; and retinal structural changes observed on clinical funduscopy as well as by pseudocolor, autofluorescence, and OCT imaging. The causative mutation was identified in 37% of families. The most prevalent RP-causing mutations are the Alu insertion (c.1297_8ins353, p.K433Rins31*) in the male germ cell-associated kinase (MAK) gene (39% of families with a known genetic cause for RP) and c.124A>G, p.K42E in dehydrodolichol diphosphate synthase (DHDDS) (33%). Additionally, disease-causing mutations were identified in 11 other genes. Analysis of clinical parameters of patients with mutations in the 2 most common RP-causing genes revealed that MAK patients had better VA and visual fields at relatively older ages in comparison with DHDDS patients. Funduscopic findings of DHDDS patients matched those of MAK patients who were 20 to 30 years older. Patients with DHDDS mutations were referred for electrophysiologic evaluation at earlier ages, and their cone responses became nondetectable at a much younger age than MAK patients. Our AJ cohort of RP patients is the largest reported to date and showed a substantial difference in the genetic causes of RP compared with cohorts of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition of causative genes. The most common RP-causing genes in our cohort, MAK and DHDDS, were not described as major causative genes in other populations. The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations. Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

PubMed

Baris, Hagit N; Barnes-Kedar, Inbal; Toledano, Helen; Halpern, Marisa; Hershkovitz, Dov; Lossos, Alexander; Lerer, Israela; Peretz, Tamar; Kariv, Revital; Cohen, Shlomi; Half, Elizabeth E; Magal, Nurit; Drasinover, Valerie; Wimmer, Katharina; Goldberg, Yael; Bercovich, Dani; Levi, Zohar

2016-03-01

Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood. Offspring of couples where both spouses have LS have a 1:4 risk of inheriting biallelic MMR gene mutations. These cause constitutional MMR deficiency (CMMRD) syndrome, a severe recessively inherited cancer syndrome with a broad tumor spectrum including mainly hematological malignancies, brain tumors, and colon cancer in childhood and adolescence. Many CMMRD children also present with café au lait spots and axillary freckling mimicking neurofibromatosis type 1. We describe our experience in seven CMMRD families demonstrating the role and importance of founder mutations and consanguinity on its prevalence. Clinical presentations included brain tumors, colon cancer, lymphoma, and small bowel cancer. In children from two nonconsanguineous Ashkenazi Jewish (AJ) families, the common Ashkenazi founder mutations were detected; these were homozygous in one family and compound heterozygous in the other. In four consanguineous families of various ancestries, different homozygous mutations were identified. In a nonconsanguineous Caucasus/AJ family, lack of PMS2 was demonstrated in tumor and normal tissues; however, mutations were not identified. CMMRD is rare, but, especially in areas where founder mutations for LS and consanguinity are common, pediatricians should be aware of it since they are the first to encounter these children. Early diagnosis will enable tailored cancer surveillance in the entire family and a discussion regarding prenatal genetic diagnosis. © 2015 Wiley Periodicals, Inc.

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

PubMed

Stone, Edwin M; Luo, Xunda; Héon, Elise; Lam, Byron L; Weleber, Richard G; Halder, Jennifer A; Affatigato, Louisa M; Goldberg, Jacqueline B; Sumaroka, Alexander; Schwartz, Sharon B; Cideciyan, Artur V; Jacobson, Samuel G

2011-12-28

To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. Patients with RP and MAK gene mutations (n = 24; age, 32-77 years at first visit) were studied by ocular examination, perimetry, and optical coherence tomography (OCT). All but one MAK patient were homozygous for an identical truncating mutation in exon 9 and had Ashkenazi Jewish heritage. The carrier frequency of this mutation among 1207 unrelated Ashkenazi control subjects was 1 in 55, making it the most common cause of heritable retinal disease in this population and MAK-associated RP the sixth most common Mendelian disease overall in this group. Visual acuities could be normal into the eighth decade of life. Kinetic fields showed early loss in the superior-temporal quadrant. With more advanced disease, superior and midperipheral function was lost, but the nasal field remained. Only a central island was present at late stages. Pigmentary retinopathy was less prominent in the superior nasal quadrant. Rod-mediated vision was abnormal but detectable in the residual field; all patients had rod>cone dysfunction. Photoreceptor layer thickness was normal centrally but decreased with eccentricity. At the stages studied, there was no evidence of photoreceptor ciliary elongation. The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations. The similarity in phenotypes is of interest, considering that there is experimental evidence of interaction between Mak and RP1 in the photoreceptor cilium.

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

PubMed Central

2009-01-01

Background Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. Results We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. Conclusion These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent. PMID:19995433

Battling Against Interfaith Relations in Israel: Religion, Therapy, and Social Services.

PubMed

Hakak, Yohai

2016-01-01

One of the less studied aspects of the Israeli-Palestinian conflict is its demography. On the Jewish side, active steps are taken by the state to encourage Jewish immigration and Jewish births and discourage Jewish assimilation. As part of these efforts, the "problematic relationships" between Arab men and Jewish women from low socioeconomic background have become a high agenda item in public discussions in Israel during the last decade. I will examine here how the diagnostic category "girls at risk" and a therapeutic intervention employed by social services dealing with these couples helps maintaining the delicate balance between Jewish and democratic values. I will analyze these practices as a solution to a structural problem of the Jewish enclave in Israel. © 2015 American Association for Marriage and Family Therapy.

Sources of Academic Stress: The Case of First Year Jewish and Arab College Students in Israel.

ERIC Educational Resources Information Center

Zeidner, Moshe

1992-01-01

A study of sociocultural and gender differences in Arab (n=209) and Jewish (n=184) first-year college students' perceptions of major sources of academic stress, and relationship with achievement, found cultural group background the most salient background predictor of success, followed by social class and gender, with noninteractive effects. A…

Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.

PubMed

Brownstein, Z; Friedlander, Y; Peritz, E; Cohen, T

1991-12-01

Deafness occurs in about 1 per thousand live births, and at least 50% of congenital deafness is hereditary. The aim of this study was to examine the number of loci for recessively inherited severe nerve deafness of early onset within the Israeli population and to compare the results to those obtained in other populations. The Jewish population in Israel originates from many countries and may be divided into Sephardi, Eastern and Ashkenazi Jews, and the matings will be intraethnic or interethnic. Data were obtained on 133 deaf couples who lived in the Tel Aviv area, through the files of the Helen Keller Center. Causes of deafness in the spouses were studied and data on their children were obtained. Among 111 couples who had recessive or possibly recessive deafness and had at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated at 8-9. Intraethnic and interethnic matings gave an estimate of 6.7 and 22.0 loci, respectively, which indicates that within populations fewer loci exist with recessive mutations for deafness than between populations. It could be shown that the sharing of loci between spouses decreased with increasing geographical distance of their origin. The results provide data for genetic counseling in Israel for deaf couples who have no children or have one hearing or one deaf child.

March of the living, a holocaust educational tour: effect on adolescent Jewish identity.

PubMed

Nager, Alan L; Pham, Phung; Gold, Jeffrey I

2013-12-01

March of the Living (MOTL) is a worldwide two-week trip for high school seniors to learn about the Holocaust by traveling to sites of concentration/death camps and Jewish historical sites in Poland and Israel. The mission statement of MOTL International states that participants will be able to "bolster their Jewish identity by acquainting them with the rich Jewish heritage in pre-war Eastern Europe." However, this claim has never been studied quantitatively. Therefore, 152 adolescents who participated in MOTL voluntarily completed an initial background questionnaire, a Jewish Identity Survey and a Global Domains Survey pre-MOTL, end-Poland and end-Israel. Results suggest that Jewish identity did not substantially increase overall or from one time period to the next.

A Culturally Appropriate School Wellness Initiative: Results of a 2-Year Pilot Intervention in 2 Jewish Schools

ERIC Educational Resources Information Center

Benjamins, Maureen R.; Whitman, Steven

2010-01-01

Background: Despite the growing number of school-based interventions designed to reduce childhood obesity or otherwise promote health, no models or materials were found for Jewish schools. The current study describes an effort within a Jewish school system in Chicago to create, implement, and evaluate a school-based intervention tailored to the…

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages.

PubMed

Costa, Marta D; Pereira, Joana B; Pala, Maria; Fernandes, Verónica; Olivieri, Anna; Achilli, Alessandro; Perego, Ugo A; Rychkov, Sergei; Naumova, Oksana; Hatina, Jiři; Woodward, Scott R; Eng, Ken Khong; Macaulay, Vincent; Carr, Martin; Soares, Pedro; Pereira, Luísa; Richards, Martin B

2013-01-01

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variation, have ancestry in prehistoric Europe, rather than the Near East or Caucasus. Furthermore, most of the remaining minor founders share a similar deep European ancestry. Thus the great majority of Ashkenazi maternal lineages were not brought from the Levant, as commonly supposed, nor recruited in the Caucasus, as sometimes suggested, but assimilated within Europe. These results point to a significant role for the conversion of women in the formation of Ashkenazi communities, and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history.

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

PubMed Central

Costa, Marta D.; Pereira, Joana B.; Pala, Maria; Fernandes, Verónica; Olivieri, Anna; Achilli, Alessandro; Perego, Ugo A.; Rychkov, Sergei; Naumova, Oksana; Hatina, Jiři; Woodward, Scott R.; Eng, Ken Khong; Macaulay, Vincent; Carr, Martin; Soares, Pedro; Pereira, Luísa; Richards, Martin B.

2013-01-01

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variation, have ancestry in prehistoric Europe, rather than the Near East or Caucasus. Furthermore, most of the remaining minor founders share a similar deep European ancestry. Thus the great majority of Ashkenazi maternal lineages were not brought from the Levant, as commonly supposed, nor recruited in the Caucasus, as sometimes suggested, but assimilated within Europe. These results point to a significant role for the conversion of women in the formation of Ashkenazi communities, and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history. PMID:24104924

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

PubMed

Eisenkraft, Arik; Pode-Shakked, Ben; Goldstein, Nurit; Shpirer, Zvi; van Bokhoven, Hans; Anikster, Yair

2015-01-01

Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish descent, in which the index patient presented with a persistent scalp skin lesion, dystrophic nails and light thin hair. Further evaluation revealed over 10 affected individuals in the kindred, over four generations, exhibiting varying degrees of ectodermal involvement. Analysis of the TP63 gene from four of the patients and from two healthy individuals of the same family was performed. Gene sequencing of the patients revealed a nonsense mutation leading to a premature termination codon (PTC) (p.Gln16X). The same mutation was found in all tested affected individuals in the family, but gave rise to marked phenotypic variability with minor clinical manifestations in some individuals, underscoring the clinical heterogeneity associated with the recently described PTC-causing mutations.

Analysis and Application of European Genetic Substructure Using 300 K SNP Information

PubMed Central

Tian, Chao; Plenge, Robert M; Ransom, Michael; Lee, Annette; Villoslada, Pablo; Selmi, Carlo; Klareskog, Lars; Pulver, Ann E; Qi, Lihong; Gregersen, Peter K; Seldin, Michael F

2008-01-01

European population genetic substructure was examined in a diverse set of >1,000 individuals of European descent, each genotyped with >300 K SNPs. Both STRUCTURE and principal component analyses (PCA) showed the largest division/principal component (PC) differentiated northern from southern European ancestry. A second PC further separated Italian, Spanish, and Greek individuals from those of Ashkenazi Jewish ancestry as well as distinguishing among northern European populations. In separate analyses of northern European participants other substructure relationships were discerned showing a west to east gradient. Application of this substructure information was critical in examining a real dataset in whole genome association (WGA) analyses for rheumatoid arthritis in European Americans to reduce false positive signals. In addition, two sets of European substructure ancestry informative markers (ESAIMs) were identified that provide substantial substructure information. The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans. PMID:18208329

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

PubMed

Lam, Byron L; Züchner, Stephan L; Dallman, Julia; Wen, Rong; Alfonso, Eduardo C; Vance, Jeffery M; Peričak-Vance, Margaret A

2014-01-01

A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin in which three of the four siblings have early onset retinal degeneration. The peripheral retinal degeneration in the affected siblings was evident in the initial examination in 1992 and only one had detectable electroretinogram (ERG) that suggested cone-rod dysfunction. The pigmentary retinal degeneration subsequently progressed rapidly. The identified mutation changes the highly conserved residue Lys42 to Glu, resulting in lower catalytic efficiency. Patterns of plasma transferrin isoelectric focusing gel were normal in all family members, indicating no significant abnormality in protein glycosylation. Dolichols have been shown to influence the fluidity and of the membrane and promote vesicle fusion. Considering that photoreceptor outer segments contain stacks of membrane discs, we believe that the mutation may lead to low dolichol levels in photoreceptor outer segments, resulting in unstable membrane structure that leads to photoreceptor degeneration.

The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East

PubMed Central

Nebel, Almut; Filon, Dvora; Brinkmann, Bernd; Majumder, Partha P.; Faerman, Marina; Oppenheim, Ariella

2001-01-01

A sample of 526 Y chromosomes representing six Middle Eastern populations (Ashkenazi, Sephardic, and Kurdish Jews from Israel; Muslim Kurds; Muslim Arabs from Israel and the Palestinian Authority Area; and Bedouin from the Negev) was analyzed for 13 binary polymorphisms and six microsatellite loci. The investigation of the genetic relationship among three Jewish communities revealed that Kurdish and Sephardic Jews were indistinguishable from one another, whereas both differed slightly, yet significantly, from Ashkenazi Jews. The differences among Ashkenazim may be a result of low-level gene flow from European populations and/or genetic drift during isolation. Admixture between Kurdish Jews and their former Muslim host population in Kurdistan appeared to be negligible. In comparison with data available from other relevant populations in the region, Jews were found to be more closely related to groups in the north of the Fertile Crescent (Kurds, Turks, and Armenians) than to their Arab neighbors. The two haplogroups Eu 9 and Eu 10 constitute a major part of the Y chromosome pool in the analyzed sample. Our data suggest that Eu 9 originated in the northern part, and Eu 10 in the southern part of the Fertile Crescent. Genetic dating yielded estimates of the expansion of both haplogroups that cover the Neolithic period in the region. Palestinian Arabs and Bedouin differed from the other Middle Eastern populations studied here, mainly in specific high-frequency Eu 10 haplotypes not found in the non-Arab groups. These chromosomes might have been introduced through migrations from the Arabian Peninsula during the last two millennia. The present study contributes to the elucidation of the complex demographic history that shaped the present-day genetic landscape in the region. PMID:11573163

Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

PubMed Central

Luo, Xunda; Héon, Elise; Lam, Byron L.; Weleber, Richard G.; Halder, Jennifer A.; Affatigato, Louisa M.; Goldberg, Jacqueline B.; Sumaroka, Alexander; Schwartz, Sharon B.; Cideciyan, Artur V.; Jacobson, Samuel G.

2011-01-01

Purpose. To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. Methods. Patients with RP and MAK gene mutations (n = 24; age, 32–77 years at first visit) were studied by ocular examination, perimetry, and optical coherence tomography (OCT). Results. All but one MAK patient were homozygous for an identical truncating mutation in exon 9 and had Ashkenazi Jewish heritage. The carrier frequency of this mutation among 1207 unrelated Ashkenazi control subjects was 1 in 55, making it the most common cause of heritable retinal disease in this population and MAK-associated RP the sixth most common Mendelian disease overall in this group. Visual acuities could be normal into the eighth decade of life. Kinetic fields showed early loss in the superior–temporal quadrant. With more advanced disease, superior and midperipheral function was lost, but the nasal field remained. Only a central island was present at late stages. Pigmentary retinopathy was less prominent in the superior nasal quadrant. Rod-mediated vision was abnormal but detectable in the residual field; all patients had rod>cone dysfunction. Photoreceptor layer thickness was normal centrally but decreased with eccentricity. At the stages studied, there was no evidence of photoreceptor ciliary elongation. Conclusions. The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations. The similarity in phenotypes is of interest, considering that there is experimental evidence of interaction between Mak and RP1 in the photoreceptor cilium. PMID:22110072

Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing.

PubMed

Hall, Michael J; Reid, Julia E; Wenstrup, Richard J

2010-12-01

Ductal and lobular carcinoma in situ (CIS) accounted for 62,280 (24.5%) of all new breast cancer diagnoses in 2009. BRCA1/2 mutations confer an extremely high risk of breast cancer, and management guidelines for BRCA1/2 mutation carriers advise close follow-up, intensive screening, and consideration of prophylactic surgery to lower this risk. The limited relevant previous data are not definitive in establishing the prevalence of BRCA1/2 mutations in breast CIS patients, creating uncertainty as to whether referral for cancer risk assessment and genetic testing is appropriate for this group. Therefore, we conducted a cross-sectional analysis of the Myriad Genetics BRCA1/2 database to determine the prevalence of these mutations in breast CIS patients. All statistical tests were 2-sided, and confidence intervals (CI) are reported at the 95% level (α = 0.05). The source population was 64,717 consecutive women who were not Ashkenazi Jewish, underwent BRCA1/2 testing, and provided a personal and family history of invasive breast and ovarian cancer; 7,295 (11.3%) reported a diagnosis of CIS (ductal or lobular) and had an overall 5.9% prevalence of mutated BRCA1/2 (mBRCA). Subgrouped by history (personal or family) of invasive breast and/or ovarian cancer, these CIS patients had the following prevalences of mBRCA: (1) no personal or family history, 2.3%; (2) personal history, 5.2%; (3) family history, 5%; and (4) personal and family history, 10.3%. mBRCA risk was significantly higher in women with early-onset (<50 years old) CIS than with late-onset (≥ 50 years old) CIS [odds ratio (OR) = 1.5; 95% CI = 1.1-2.1). Disease onset at less than 40 years age was associated with an even higher mBRCA risk (OR = 1.8; 95% CI = 1.3-2.3). By far the largest analysis of BRCA1/2 mutation prevalence in non-Ashkenazi Jewish breast CIS patients, this study shows that early-onset CIS is associated with mBRCA1/2 in patients referred for genetic testing. When a family history of breast and/or ovarian cancer are also present, testing women with early-onset CIS may increase both the likelihood of detecting BRCA1/2 mutations and opportunities for carriers to consider additional cancer prevention strategies. ©2010 AACR.

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

PubMed

Shaw, Liam; Ribeiro, Andre L R; Levine, Adam P; Pontikos, Nikolas; Balloux, Francois; Segal, Anthony W; Roberts, Adam P; Smith, Andrew M

2017-09-12

The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa. This effect was also seen when including adults who had grown up in the same household but moved out prior to the time of sampling, suggesting that the establishment of the salivary microbiome earlier in life may affect its long-term composition. We found weak associations between host genetic relatedness and microbiome dissimilarity when using family pedigrees as proxies for genetic similarity. However, this association disappeared when using more-accurate measures of kinship based on genome-wide genetic markers, indicating that the environment rather than host genetics is the dominant factor affecting the composition of the salivary microbiome in closely related individuals. Our results support the concept that there is a consistent core microbiome conserved across global scales but that small-scale effects due to a shared living environment significantly affect microbial community composition. IMPORTANCE Previous research shows that the salivary microbiomes of relatives are more similar than those of nonrelatives, but it remains difficult to distinguish the effects of relatedness and shared household environment. Furthermore, pedigree measures may not accurately measure host genetic similarity. In this study, we include genetic relatedness based on genome-wide single nucleotide polymorphisms (SNPs) (rather than pedigree measures) and shared environment in the same analysis. We quantify the relative importance of these factors by studying the salivary microbiomes in members of a large extended Ashkenazi Jewish family living in different locations. We find that host genetics plays no significant role and that the dominant factor is the shared environment at the household level. We also find that this effect appears to persist in individuals who have moved out of the parental household, suggesting that aspects of salivary microbiome composition established during upbringing can persist over a time scale of years. Copyright © 2017 Shaw et al.

Ethnicity/culture modulates the relationships of the haptoglobin (Hp) 1-1 phenotype with cognitive function in older individuals with type 2 diabetes.

PubMed

Guerrero-Berroa, Elizabeth; Ravona-Springer, Ramit; Heymann, Anthony; Schmeidler, James; Hoffman, Hadas; Preiss, Rachel; Koifmann, Keren; Greenbaum, Lior; Levy, Andrew; Silverman, Jeremy M; Leroith, Derek; Sano, Mary; Schnaider-Beeri, Michal

2016-05-01

The haptoglobin (Hp) genotype has been associated with cognitive function in type 2 diabetes. Because ethnicity/culture has been associated with both cognitive function and Hp genotype frequencies, we examined whether it modulates the association of Hp with cognitive function. This cross-sectional study evaluated 787 cognitively normal older individuals (>65 years of age) with type 2 diabetes participating in the Israel Diabetes and Cognitive Decline study. Interactions in two-way analyses of covariance compared Group (Non-Ashkenazi versus Ashkenazi Jews) on the associations of Hp phenotype (Hp 1-1 versus non- Hp 1-1) with five cognitive outcome measures. The primary control variables were age, gender, and education. Compared with Ashkenazi Jews, non-Ashkenazi Jews with the Hp 1-1 phenotype had significantly poorer cognitive function than non-Hp 1-1 in the domains of Attention/Working Memory (p = 0.035) and Executive Function (p = 0.023), but not in Language/Semantic Categorization (p = 0.432), Episodic Memory (p = 0.268), or Overall Cognition (p = 0.082). After controlling for additional covariates (type 2 diabetes-related characteristics, cardiovascular risk factors, Mini-mental State Examination, and extent of depressive symptoms), Attention/Working Memory (p = 0.038) and Executive Function (p = 0.013) remained significant. Older individuals from specific ethnic/cultural backgrounds with the Hp 1-1 phenotype may benefit more from treatment targeted at decreasing or halting the detrimental effects of Hp 1-1 on the brain. Future studies should examine differential associations of Hp 1-1 and cognitive impairment, especially for groups with high prevalence of both, such as African-Americans and Hispanics. Copyright © 2015 John Wiley & Sons, Ltd.

The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

PubMed Central

Behar, Doron M.; Metspalu, Ene; Kivisild, Toomas; Achilli, Alessandro; Hadid, Yarin; Tzur, Shay; Pereira, Luisa; Amorim, Antonio; Quintana-Murci, Lluís; Majamaa, Kari; Herrnstadt, Corinna; Howell, Neil; Balanovsky, Oleg; Kutuev, Ildus; Pshenichnov, Andrey; Gurwitz, David; Bonne-Tamir, Batsheva; Torroni, Antonio; Villems, Richard; Skorecki, Karl

2006-01-01

Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important exception of low frequencies among non-Ashkenazi Jews. We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium. PMID:16404693

Glutaric aciduria type I in the Arab and Jewish communities in Israel

DOE Office of Scientific and Technical Information (OSTI.GOV)

Anikster, Y.; Shaag, A.; Elpeleg, O.N.

Mutation analysis was performed in eight families (16 patients) with glutaric aciduria type I (GA-I), which were all the families diagnosed in Israel in the years 1987 - 1994. Six families were of Moslem origin and two were non-Ashkenazi Jews. The entire coding region of the cDNA of the glutaryl-CoA dehydrogenase gene was sequenced in one patient of each family. Seven new mutations were identified in 15 of 16 mutated alleles, including six point mutations: T4161 (4 alleles), G39OR (1 allele), and S305L, A293T, L283P, and G101R (2 alleles each). In addition, a 1-bp deletion at position 1173 was identifiedmore » in two alleles. These findings do not provide a molecular basis for the clinical variability in GA-1 families. The occurrence of multiple novel mutations in a small geographic area may be explained by their recent onset in isolated communities with a high consanguinity rate. 22 refs., 3 figs., 3 tabs.« less

Ethnic Variations in Duodenal Villous Atrophy Consistent With Celiac Disease in the United States.

PubMed

Krigel, Anna; Turner, Kevin O; Makharia, Govind K; Green, Peter H R; Genta, Robert M; Lebwohl, Benjamin

2016-08-01

Celiac disease is a common disorder with a worldwide distribution, although the prevalence among different ethnicities varies. We aimed to measure the prevalence of duodenal villous atrophy among patients of different ethnicities throughout the United States. We performed a cross-sectional study of all patients who had duodenal biopsies submitted to a national pathology laboratory between January 2, 2008 and April 30, 2015. The prevalence of villous atrophy was calculated for the following ethnicities by using a previously published algorithm based on patient names: North Indian, South Indian, East Asian, Hispanic, Middle Eastern, Jewish, and other Americans. Among all patients (n = 454,885), the median age was 53 years, and 66% were female. The overall prevalence of celiac disease was 1.74%. Compared with other Americans (n = 380,163; celiac disease prevalence, 1.83%), celiac disease prevalence was lower in patients of South Indian (n = 177, 0%; P = .08), East Asian (n = 4700, 0.15%; P ≤ .0001), and Hispanic (n = 31,491, 1.06%; P ≤ .0001) ethnicities. Celiac disease was more common in patients from the Punjab region (n = 617, 3.08%) than in patients from North India (n = 1195, 1.51%; P = .02). The prevalence of celiac disease among patients of Jewish (n = 17,806, 1.80%; P = .78) and Middle Eastern (n = 1903, 1.52%; P = .33) ethnicities was similar to that of other Americans. Among Jewish individuals (n = 17,806), the prevalence of celiac disease was 1.83% in Ashkenazi persons (n = 16,440) and 1.39% in Sephardic persons (n = 1366; P = .24). Among patients undergoing duodenal biopsy, individuals from the Punjab region of India constitute the ethnic group in the United States with the highest prevalence of villous atrophy consistent with celiac disease. Compared with other Americans, villous atrophy prevalence on duodenal biopsy is significantly lower among U.S. residents of South Indian, East Asian, and Hispanic ancestry. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

PubMed Central

Hall, Michael J.; Reid, Julia E.; Burbidge, Lynn A.; Pruss, Dmitry; Deffenbaugh, Amie M.; Frye, Cynthia; Wenstrup, Richard J.; Ward, Brian E.; Scholl, Thomas A.; Noll, Walter W.

2009-01-01

Background In women at increased risk for breast and ovarian cancer, the identification of a BRCA1/2 mutation has important implications for screening and prevention counseling. Uncertainty regarding the role of BRCA1/2 testing in high-risk women from diverse ancestral backgrounds exists due to variability in prevalence estimates of deleterious (disease-associated) mutations in non-White populations. We examined the prevalence of BRCA1/2 mutations in an ethnically diverse group of women referred for genetic testing. Methods We conducted a cross-sectional analysis to assess the prevalence of BRCA1/2 mutations in a group of non-Ashkenazi Jewish women undergoing genetic testing. Results From 1996-2006, 46,276 women meeting study criteria underwent DNA full-sequence analysis of the BRCA1 and BRCA2 genes. Deleterious mutations were identified in 12.5% of subjects, and recurrent deleterious mutations (prevalence > 2%) were identified in all ancestral groups. Women of non-European descent were younger (45.9 yrs, SD11.6) than European (50.0 yrs, SD11.9)(p<0.001). Women of African (15.6%)[OR 1.3(1.1-1.5)] and Latin American (14.8%)[OR 1.2(1.1-1.4)] ancestries had a significantly higher prevalence of deleterious BRCA1/2 mutations compared to women of Western European ancestry (12.1%), primarily due to an increased prevalence of BRCA1 mutations in these two groups. Non-European ethnicity was strongly associated with having a variant of uncertain significance; however, re-classification decreased variant reporting (12.8%→5.9%), with women of African ancestry experiencing the largest decline (58%). Conclusions Mutation prevalence is high among women referred for clinical BRCA1/2 testing, and risk is similar across diverse ethnicities. BRCA1/2 testing is integral to cancer risk assessment in all high-risk women. PMID:19241424

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing

PubMed Central

Dijamco, Cheri; Kiefer, Amy K.; Eriksson, Nicholas; Moiseff, Bianca; Tung, Joyce Y.; Mountain, Joanna L.

2013-01-01

Background. Inherited BRCA gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit BRCA mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information directly to consumers are unknown. Methods. To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service® report of three BRCA mutations that are common in Ashkenazi Jews, we invited all 136 BRCA1 and BRCA2 mutation-positive individuals in the 23andMe customer database who had chosen to view their BRCA reports to participate in this IRB-approved study. We also invited 160 mutation-negative customers who were matched for age, sex and ancestry. Semi-structured phone interviews were completed for 32 mutation carriers, 16 women and 16 men, and 31 non-carriers. Questions addressed personal and family history of cancer, decision and timing of viewing the BRCA report, recollection of the result, emotional responses, perception of personal cancer risk, information sharing, and actions taken or planned. Results. Eleven women and 14 men had received the unexpected result that they are carriers of a BRCA1 185delAG or 5382insC, or BRCA2 6174delT mutation. None of them reported extreme anxiety and four experienced moderate anxiety that was transitory. Remarkably, five women and six men described their response as neutral. Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. Male carriers realized that their test results implied genetic risk for female relatives, and several of them felt considerably burdened by this fact. Sharing mutation information with family members led to screening of at least 30 relatives and identification of 13 additional carriers. Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their BRCA mutation status. Conclusions. Direct access to BRCA mutation tests, considered a model for high-risk actionable genetic tests of proven clinical utility, provided clear benefits to participants. The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified. Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered. PMID:23638402

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

PubMed

Parvari, R; Lei, K J; Bashan, N; Hershkovitz, E; Korman, S H; Barash, V; Lerman-Sagie, T; Mandel, H; Chou, J Y; Moses, S W

1997-10-31

Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase gene enabled the characterization of the mutations causing GSD 1a. This, in turn, allows the introduction of a noninvasive DNA-based diagnosis that provides reliable carrier testing and prenatal diagnosis. In this study, we report the biochemical and clinical characteristics as well as mutational analyses of 12 Israeli GSD 1a patients of different families, who represent most GSD 1a patients in Israel. The mutations, G6Pase activity, and glycogen content of 7 of these patients were reported previously. The biochemical data and clinical findings of all patients were similar and compatible with those described in other reports. All 9 Jewish patients, as well as one Muslim Arab patient, presented the R83C mutation. Two Muslim Arab patients had the V166G mutation which was not found in other patients' populations. The V166G mutation, which was introduced into the G6Pase cDNA by site-directed mutagenesis following transient expression in COS-1 cells, was shown to cause complete inactivation of the G6Pase. The characterization of all GSD 1a mutations in the Israeli population lends itself to carrier testing in these families as well as to prenatal diagnosis, which was carried out in 2 families. Since all Ashkenzai Jewish patients harbor the same mutation, our study suggests that DNA-based diagnosis may be used as an initial diagnostic step in Ashkenazi Jews suspected of having GSD 1a, thereby avoiding liver biopsy.

Reinventing Religion: Jewish Religion Textbooks in Russian Gymnasia

ERIC Educational Resources Information Center

Adler, Eliyana R.

2011-01-01

This article examines 10 textbooks used in Jewish religion classes in Russian high schools in the final decades of the 19th century. The textbooks reveal an expectation of a low level of Hebrew background, an interest in promoting the practice of prayer, and two distinct approaches to teaching Judaism. While some of the books introduce students to…

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson’s disease

PubMed Central

Alcalay, Roy N.; Mejia-Santana, Helen; Mirelman, Anat; Saunders-Pullman, Rachel; Raymond, Deborah; Palmese, Christina; Caccappolo, Elise; Ozelius, Laurie; Orr-Urtreger, Avi; Clark, Lorraine; Giladi, Nir; Bressman, Susan; Marder, Karen

2014-01-01

Background Ashkenazi Jewish (AJ) LRRK2 carriers are more likely to manifest the postural instability gait difficulty (PIGD) motor phenotype than non-carriers but perform similarly to non-carriers on cognitive screening tests. Objective To compare the cognitive profiles of AJ with Parkinson’s disease (PD) with and without LRRK2 G2019S mutations using a comprehensive neuropsychological battery. Methods We administered a neuropsychological battery to PD participants in the Michael J. Fox Foundation AJ consortium. Participants (n=236) from Beth Israel Medical Center, NY, Columbia University Medical Center, NY and Tel Aviv Medical Center, Israel included 116 LRRK2 G2019S carriers and 120 non-carriers. Glucocerbrosidase mutation carriers were excluded. We compared performance on each neuropsychological test between carriers and non-carriers. Participants in New York (n=112) were evaluated with the entire battery. Tel Aviv participants (n=124) were evaluated on attention, executive function and psychomotor speed tasks. The association between G2019S mutation status (predictor) and each neuropsychological test (outcome) was assessed using linear regression models adjusted for PIGD motor phenotype, site, sex, age, disease duration, education, Unified Parkinson’s Disease Rating Scale (UPDRS) Part III, levodopa equivalent dose, and Geriatric Depression Score (GDS). Results Carriers had longer disease duration (p<0.001) and were more likely to manifest the PIGD phenotype (p=0.024). In adjusted regression models, carriers performed better than non-carriers in Stroop Word Reading (p<0.001), Stroop Interference (p=0.011) and Category Fluency (p=0.026). Conclusion In AJ-PD, G2019S mutation status is associated with better attention (Stroop Word Reading), executive function (Stroop Interference) and language (Category Fluency) after adjustment for PIGD motor phenotype. PMID:25434972

Prevalence of BRCA1 and BRCA2 mutations in women with carcinoma in situ of the breast referred for genetic testing

PubMed Central

Hall, Michael J.; Reid, Julia E.; Wenstrup, Richard J.

2010-01-01

Background Carcinoma in situ (CIS) of the breast will account for 62,280 (24.5%) of new breast cancer diagnoses in 2009. Management guidelines for BRCA1/2 mutation carriers advise close follow-up, intensive screening, and consideration of prophylactic surgeries to lower cancer risk. The prevalence of BRCA1/2 mutations in women with a history of CIS using comprehensive DNA sequencing and rearrangement testing has not been definitively documented. Methods The prevalence of mutations in non-Ashkenazi Jewish women with CIS was assessed by way of a cross-sectional analysis of the Myriad Genetic Laboratories, Inc. BRCA1/2 database. Women reporting any diagnosis of CIS were included. All statistical tests are two-sided, and confidence intervals are reported at the 95% level (α =0.05). Results Among the test population (N=64717), 11.3%(n=7295) reported a history of CIS (any reported CIS). For women without personal history of invasive cancer (CIS alone+CIS and any family history subgroups), those with early-onset CIS had a significantly increased risk of a BRCA1/2 mutation compared to women with late-onset disease (≥50 years)(OR 1.5, 95% CI 1.1–2.1). Among women reporting only a history of CIS and no personal or family history (CIS alone), mutation prevalence was 2.3% (17/738). Conclusions In patients referred for genetic testing, early-onset CIS is associated with BRCA1/2. When a family history of breast and/or ovarian cancer are also present, testing women with early-onset CIS may increase the likelihood of BRCA1/2 mutation detection, and the opportunity for carriers to consider additional cancer prevention strategies. PMID:21149333

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

PubMed Central

Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

2015-01-01

BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

Lipoprotein Particle Profiles Mark Familial and Sporadic Human Longevity

PubMed Central

Heijmans, Bastiaan T; Beekman, Marian; Houwing-Duistermaat, Jeanine J; Cobain, Mark R; Powell, Jonathan; Blauw, Gerard Jan; van der Ouderaa, Frans; Westendorp, Rudi G. J; Slagboom, P. Eline

2006-01-01

Background Genetic and biochemical studies have indicated an important role for lipid metabolism in human longevity. Ashkenazi Jewish centenarians and their offspring have large low-density lipoprotein (LDL) and high-density lipoprotein (HDL) particles as compared with control individuals. This profile also coincided with a lower prevalence of disease. Here, we investigate whether this observation can be confirmed for familial longevity in an outbred European population and whether it can be extended to sporadic longevity in the general population. Methods and Findings NMR-measured lipoprotein profiles were analyzed in 165 families from the Leiden Longevity Study, consisting of 340 long-lived siblings (females >91 y, males >89 y), 511 of their offspring, and 243 partners of the offspring. Offspring had larger (21.3 versus 21.1 nm; p = 0.020) and fewer (1,470 versus 1,561 nmol/l; p = 0.011) LDL particles than their same-aged partners. This effect was even more prominent in the long-lived siblings (p < 10−3) and could be pinpointed to a reduction specifically in the concentration of small LDL particles. No differences were observed for HDL particle phenotypes. The mean LDL particle sizes in 259 90-y-old singletons from a population-based study were similar to those in the long-lived siblings and thus significantly larger than in partners of the offspring, suggesting that the relevance of this phenotype extends beyond familial longevity. A low concentration of small LDL particles was associated with better overall health among both long-lived siblings (p = 0.003) and 90-y-old singletons (p = 0.007). Conclusions Our study indicates that LDL particle profiles mark both familial and sporadic human longevity already in middle age. PMID:17194192

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women

PubMed Central

Novak, David J; Chen, Long Qi; Ghadirian, Parviz; Hamel, Nancy; Zhang, Phil; Rossiny, Vanessa; Cardinal, Guy; Robidoux, André; Tonin, Patricia N; Rousseau, Francois; Narod, Steven A; Foulkes, William D

2008-01-01

Background BRCA1 and BRCA2 account for the majority of the known familial breast cancer risk, however, the impact of other cancer susceptibility genes largely remains to be elucidated. Checkpoint Kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects have been associated with an increase in breast cancer risk. Previous studies have identified low penetrance CHEK2 alleles such as 1100delC and I157T, as well as variants such as S428F in the Ashkenazi Jewish population and IVS2 + 1G>A in the Polish population. No founder allele has been specifically identified in the French Canadian population. Methods The 14 coding exons of CHEK2 were fully sequenced for variant alleles in a panel of 25 affected French Canadian women and 25 healthy controls. Two variants were identified of which one novel variant was further screened for in an additional panel of 667 breast cancer patients and 6548 healthy controls. Additional genotyping was conducted using allele specific PCR and a restriction digest assay. Significance of amino acid substitutions were deduced by employing comparative analysis techniques. Results Two variants were identified: the previously reported silent substitution 252A>G (E84E) and the novel missense variant, 1217G>A (R406H). No significant difference in allele distribution between French Canadian women with breast cancer and healthy controls was observed (3/692, 0.43% vs. 22/6573, 0.33%, respectively, P = 0.73). Conclusion The novel CHEK2 missense variant identified in this study, R406H, is unlikely to contribute to breast cancer risk in French Canadian women. PMID:18706089

Canavan Disease

MedlinePlus

... Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be ... Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be ...

Unkosher Sex: Vulnerable Narcissism and Ultra-Orthodox Jewish Men.

PubMed

Schapiro-Halberstam, Sara; Josephs, Lawrence

2018-05-08

Narcissistic men that engage in out-of-control extra-marital sex can be challenging to treat when their cultural background reinforces their misogyny and sense of entitlement, as it does among ultra-Orthodox Jewish men. A case study illustrates the challenges for a female clinician helping an unfaithful, married, narcissistic ultra-Orthodox Jewish male refrain from seeing prostitutes. He devalued the approach of his female therapist and the client had to learn that he was not entitled to women's love and respect, but that he needed to earn it by transcending his egocentrism and demonstrating empathy rather than contempt for women.

[Zionists to Zion].

PubMed

Syroka, Bozena Płonka

2006-01-01

The issue of presence of doctors of Jewish origin in Polish medical community is the subject of research presented in this article. The author describes the most important personalities originating from this national group, who had the biggest contribution to Polish modern times medical life. The process of Jewish minority assimilation to Polish culture in 18th and 19th centuries is outlined, as well as its effects in reborn Poland. Also, the Jewish minority situation during the Second World War is describes, and the harm they suffered then. Against this background the author shows the anti-Semitic trends visible in Polish political life in times of Polish People's Republic, especially during the 1968 upheavals, which greatly contributed to the fact that many doctors of medicine of Jewish origin emigrated from Poland for political reasons.

Natural history of Ashkenazi intelligence.

PubMed

Cochran, Gregory; Hardy, Jason; Harpending, Henry

2006-09-01

This paper elaborates the hypothesis that the unique demography and sociology of Ashkenazim in medieval Europe selected for intelligence. Ashkenazi literacy, economic specialization, and closure to inward gene flow led to a social environment in which there was high fitness payoff to intelligence, specifically verbal and mathematical intelligence but not spatial ability. As with any regime of strong directional selection on a quantitative trait, genetic variants that were otherwise fitness reducing rose in frequency. In particular we propose that the well-known clusters of Ashkenazi genetic diseases, the sphingolipid cluster and the DNA repair cluster in particular, increase intelligence in heterozygotes. Other Ashkenazi disorders are known to increase intelligence. Although these disorders have been attributed to a bottleneck in Ashkenazi history and consequent genetic drift, there is no evidence of any bottleneck. Gene frequencies at a large number of autosomal loci show that if there was a bottleneck then subsequent gene flow from Europeans must have been very large, obliterating the effects of any bottleneck. The clustering of the disorders in only a few pathways and the presence at elevated frequency of more than one deleterious allele at many of them could not have been produced by drift. Instead these are signatures of strong and recent natural selection.

Educating Jewish and Arab Children for Tolerance and Coexistence in a Situation of Ongoing Conflict: An Encounter Program

ERIC Educational Resources Information Center

Lazovsky, Rivka

2007-01-01

The "Children Teach Children" (CTC) program aimed to educate Jewish and Arab children in Israel for tolerance and coexistence is first described against the general background of coexistence programs in Israel and in other countries. Results of a study that examined the influence of the program implementation in Grade 7 in a pair of…

Israel: Background and U.S. Relations

DTIC Science & Technology

2016-10-28

Herzl’s The Jewish State in 1896. Herzl was inspired by the concept of nationalism that had become popular among various European peoples in the...national home for the Jewish people .” Palestine became a British Mandate after the war and British officials simultaneously encouraged the national...country dedicated to Western liberal and communitarian values. From 1948 to 1977, the social democratic Mapai/Labor movement led Israeli governing

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.

PubMed

Saffra, Norman; Seidman, Carly Jane; Rakhamimov, Aleksandr; Tsang, Stephen H

2017-05-04

A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Association of exceptional parental longevity and physical function in aging.

PubMed

Ayers, Emmeline; Barzilai, Nir; Crandall, Jill P; Milman, Sofiya; Verghese, Joe

2014-01-01

Offspring of parents with exceptional longevity (OPEL), who are more likely to carry longevity-associated genotypes, may age more successfully than offspring of parents with usual survival (OPUS). Maintenance of physical function is a key attribute of successful aging. While many genetic and non-genetic factors interact to determine physical phenotype in aging, examination of the contribution of exceptional parental longevity to physical function in aging is limited. The LonGenity study recruited a relatively genetically homogenous cohort of Ashkenazi Jewish (AJ) adults age 65 and older, who were defined as either OPEL (having at least one parent who lived to age 95 or older) or OPUS (neither parent survived to age 95). Subjective and objective measures of physical function were compared between the two groups, accounting for potential confounders. Of the 893 LonGenity subjects, 365 were OPEL and 528 were OPUS. OPEL had better objective and subjective measures of physical function than OPUS, especially on unipedal stance (p = 0.009) and gait speed (p = 0.002). Results support the protective role of exceptional parental longevity in preventing decline in physical function, possibly via genetic mechanisms that should be further explored.

DOE Office of Scientific and Technical Information (OSTI.GOV)

McDowell, G.A.; Blitzer, M.G.; Mules, E.H.

A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined formore » 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.« less

Higher body mass index in 16-19 year-old Jewish Adolescents of North African, Middle Eastern and European Origins is a Predictor of Acute Myeloid Leukemia: a cohort of 2.3 million Israelis.

PubMed

Shamriz, Oded; Leiba, Merav; Levine, Hagai; Derazne, Estela; Keinan-Boker, Lital; Kark, Jeremy D

2017-04-01

Studies evaluating adolescent risk factors for developing acute myeloid leukemia (AML) are virtually nonexistent. We assessed adolescent predictors of AML in adults, with a main focus on adolescent BMI. The study included 2,310,922 16-19-year-old Jewish Israeli adolescents (mean age 17.3 ± 0.4, 59.5% male), called up for an obligatory health examination. Sociodemographic and health data, including measured weight and height, were gathered. Body mass index (BMI) was examined both as a continuous variable and grouped according to the World Health Organization (WHO) classification and US-CDC percentiles. Bone-marrow-biopsy-verified AML cases diagnosed up to 31 December 2012 were identified by linkage to the Israel national cancer registry. Multivariable-adjusted Cox proportional-hazards models were used to model time to diagnosis. During 47 million person years of follow-up, 568 AML cases were identified (crude incidence rate 1.21/100,000 person years). There was a multivariable-adjusted hazard ratio (HR) of 1.041 (95% CI 1.015-1.068, p = 0.002) per unit BMI. The association was evident in those of Middle Eastern, North African, and European origin. A graded association was evident across the overweight and obese WHO grouping. With the US-CDC grouping, excess risk was evident in overweight but not in obese adolescents, although a test for trend in percentiles was significant (p = 0.004). Borderline associations were noted for origin (p = 0.065) (higher in the predominantly Ashkenazi European origin), sex (higher in women: HR = 1.24 (95% CI 0.99-1.55), and stature (HR = 1.013, 95% CI 1.000-1.026, per cm). Higher BMI in adolescence was associated with increased AML incidence in adulthood in this multiethnic population.

[out of scope].

PubMed

Siegmund-Schultze, Reinhard

2008-01-01

The paper discusses several still unsettled and not systematically investigated questions concerning the situation of Jewish scientists, among them mathematicians, in the Republic of Weimar. Contemporary statements by the well-known leftist and liberal journalists Carl von Ossietzky (1932) and Rudolf Olden (1934) are used to describe the general political situation. A wide-spread feeling of a social and political crisis and changes and perturbations in international scientific communication provide explanatory background for the conditions within academia in the 1920s. A comparison of appointments of Jewish mathematicians to full professorships before and after World War I does not give significant differences. Attitudes of Jewish mathematicians such as Felix Bernstein, Richard Courant, Emil Julius Gumbel, Edmund Landau, Richard von Mises, Johann von Neumann and Adolf A. Fraenkel, but also of non-Jewish mathematicians such as Felix Klein, Walther von Dyck and Theodor Vahlen will be discussed, providing some unpublished material. One statement by Felix Klein (1920), which shows his undecided stance with respect to the problem of anti-Semitism, and an excerpt from Richard von Mises' diary (1933), where he reflects on his status as a Jewish mathematician and as a refugee, are particularly valuable as points of reference for necessary further research.

European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing Among Diverse European Ethnic Groups

PubMed Central

Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E.; Ransom, Michael; Gregersen, Peter K.; Seldin, Michael F.

2009-01-01

The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4000 subjects genotyped for 300 thousand SNPs we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be effectively controlled in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity to perform additional genome-wide SNP studies in additional subject sets. PMID:19707526

European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

PubMed

Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E; Ransom, Michael; Gregersen, Peter K; Seldin, Michael F

2009-01-01

The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4,000 subjects genotyped for 300,000 single-nucleotide polymorphisms (SNPs), we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian, and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be controlled effectively in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity of performing additional genome-wide SNP studies in additional subject sets.

Rare variation facilitates inferences of fine-scale population structure in humans.

PubMed

O'Connor, Timothy D; Fu, Wenqing; Mychaleckyj, Josyf C; Logsdon, Benjamin; Auer, Paul; Carlson, Christopher S; Leal, Suzanne M; Smith, Joshua D; Rieder, Mark J; Bamshad, Michael J; Nickerson, Deborah A; Akey, Joshua M

2015-03-01

Understanding the genetic structure of human populations has important implications for the design and interpretation of disease mapping studies and reconstructing human evolutionary history. To date, inferences of human population structure have primarily been made with common variants. However, recent large-scale resequencing studies have shown an abundance of rare variation in humans, which may be particularly useful for making inferences of fine-scale population structure. To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights into patterns of recent population structure. Furthermore, to empirically assess our theoretical findings, we analyzed high-coverage exome sequences in 6,515 European and African American individuals. As predicted, rare variants are more informative than common polymorphisms in revealing a distinct cluster of European-American individuals, and subsequent analyses demonstrate that these individuals are likely of Ashkenazi Jewish ancestry. Our results provide new insights into the population structure using rare variation, which will be an important factor to account for in rare variant association studies. © The Author 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Ashkenazi Jews and Breast Cancer: The Consequences of Linking Ethnic Identity to Genetic Disease

PubMed Central

Brandt-Rauf, Sherry I.; Raveis, Victoria H.; Drummond, Nathan F.; Conte, Jill A.; Rothman, Sheila M.

2006-01-01

We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay–Sachs disease research and a particular reading of history, shaped this new approach even as methodological imprecision and new genetic and historical research challenged it. Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy. PMID:17018815

["The best among the physicians to Gehinom (to hell)?"].

PubMed

Gesundheit, B

2004-08-01

At first glance, the well-known Mishnaic dictum, "The best among the physicians to Gehinom" (Kiddushin 4:14), is a harsh and sweeping denunciation of doctors and medicine. It is contrary to the respect and regard for physicians and medicine shown by the Talmud and Jewish tradition across the generations. This article explains the statement in its original context in the Mishnah and its parallels. We shall examine how the dictum was understood in both Jewish and non-Jewish literature in order to trace the new meanings that were attached to it over the course of history in both traditions. The article examines the Mishnaic source and its parallels in light of early manuscripts. Furthermore, it investigates the historical background and biographies of the many commentators on this dictum in order to account for the diverse explanations offered by those authors. An examination of the manuscripts demonstrates that this passage did not appear in the original Mishnah, but was added during a later period. The parallel texts imply that condemnation is limited to those physicians who treat their patients using heretical and idolatrous methods. Jewish commentators utilized this exceptional dictum as a means to teach important moral lessons, each author in accordance with his own viewpoint and the needs of the hour. Non-Jewish authors also exploited the passage, supporting their anti-Semitic ideology with Talmudic sources. No conclusions regarding the Jewish attitude toward medicine and doctors may be derived from the dictum: "The best of the physicians to Gehinom." The statement probably relates solely to doctors of that period who employed heretical and idolatrous practices in the treatment of their patients. The Talmud expresses its respect and appreciation for medicine and doctors. Jewish commentators across the generations continued to derive important moral lessons from this exceptional statement in order to enhance the professional and moral responsibility of Jewish physicians.

Religious belief: the main impact on the perception of the nature of science on student teachers

NASA Astrophysics Data System (ADS)

Aflalo, Ester

2013-09-01

This study aims to examine the affect of the degree of religiosity of student teachers, and their nationalism and scientific background on their perception of the nature of science (NOS). First year Arab and Jewish religiously observant, traditional and secular students in Israel (101 in number) with different scientific backgrounds participated in the study. The students completed a closed questionnaire with 35 statements that explored diverse aspects of the perception of the NOS. The findings show that previous scientific knowledge or belonging to the Jewish or Arab nation barely impacts the perceptions of the NOS. In contrast, religious belief, whether Jewish or Muslim, had significant impact. The more religious the students the greater weight they afforded culture and society versus science, and their support of the freedom of inquiry and of the tentativeness of science declined. The educational implications of the findings are discussed in view of the social increase in dogmatic religious belief alongside the unreserved exacerbated skepticism of every truth. Emphasis is placed on reinforcing the liberal dialogue approach that does not fear criticizing tradition, according to which it is possible to educate to critical thought without negating religious belief.

Lynch Syndrome in high risk Ashkenazi Jews in Israel.

PubMed

Goldberg, Yael; Kedar, Inbal; Kariiv, Revital; Halpern, Naama; Plesser, Morasha; Hubert, Ayala; Kaduri, Luna; Sagi, Michal; Lerer, Israela; Abeliovich, Dvorah; Hamburger, Tamar; Nissan, Aviram; Goldshmidt, Hanoch; Solar, Irit; Geva, Ravit; Strul, Hana; Rosner, Guy; Baris, Hagit; Levi, Zohar; Peretz, Tamar

2014-03-01

Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. To report gene distribution, mutations detected and co-occurrence of related syndromes in a cohort of Ashkenazi Jews in Israel. Patients were identified in dedicated high risk clinics in 3 medical centers in Israel. Diagnostic process followed a multi-step scheme. It included testing for founder mutations, tumor testing, gene sequencing and MLPA. Lynch Syndrome was defined either by positive mutation testing, or by clinical criteria and positive tumor analysis. We report a cohort of 75 Ashkenazi families suspected of Lynch Syndrome. Mutations were identified in 51/75 (68%) families: 38 in MSH2, 9 in MSH6, and 4 in MLH1. 37/51 (73%) of these families carried one of the 3 'Ashkenazi' founder mutations in MSH2 or MSH6. Each of the other 14 families carried a private mutation. 3 (6%) were large deletions. Only 20/51 (39%) families were Amsterdam Criteria positive; 42 (82%) were positive for the Bethesda guidelines and 9 (18%) did not fulfill any Lynch Syndrome criteria. We report C-MMRD and co-occurrence of BRCA and Lynch Syndrome in our cohort. Mutation spectra and gene distribution among Ashkenazi Jews are unique. Three founder Lynch Syndrome mutations are found in 73% families with known mutations. Among the three, MSH2 and MSH6 are the most common. These features affect the phenotype, the diagnostic process, risk estimation, and genetic counseling.

Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins.

PubMed

Ken-Dror, Gie; Goldbourt, Uri; Dankner, Rachel

2010-05-01

Several polymorphisms in the ApoA5 gene emerged as important candidate genes in triglyceride metabolism. The aim of this study was to determine the associations between ApoA5 polymorphisms, plasma triglyceride concentrations and the presence of cardiovascular disease (CVD) in three ethnic origins. Genotypes for 15 single nucleotide polymorphisms (SNPs) were determined in 659 older adults (mean age 71+/-7 years) who immigrated to Israel or whose ancestors originated from East Europe (Ashkenazi), North Africa, Asia (Sephardic) or Yemen (Yemenite). The minor alleles of the four common SNPs (rs662799, rs651821, rs2072560 and rs2266788) are associated with an increase of 27-38% in triglyceride concentration among Ashkenazi and Yemenite Jews compared with the major alleles, but not among those of Sephardic origin. Conversely, among the Sephardic group, the presence of the minor allele in SNP rs3135506 compared with the major allele was associated with an increase of 34% in triglyceride concentration. The four SNPs were in significant linkage disequilibrium (D'=0.96-0.99), resulting in three haplotypes H1, H2 and H3, representing 98-99% of the population. Haplotype H2 was significantly associated with triglyceride concentration among Ashkenazi and Yemenite but not among Sephardic Jews. Conversely, haplotype H3 was associated with triglyceride concentration in Sephardic but not in Ashkenazi and Yemenite Jews. Ashkenazi carriers of H2 haplotype had a CVD odds ratio of 2.19 (95% CI: 1.05-4.58) compared with H1 (the most frequent), after adjustment for all other risk factors. These results suggest that different SNPs in ApoA5 polymorphisms may be associated with triglyceride concentration and CVD in each of these ethnic origins.

Pitfalls of the Geographic Population Structure (GPS) Approach Applied to Human Genetic History: A Case Study of Ashkenazi Jews

PubMed Central

Flegontov, Pavel; Kassian, Alexei; Thomas, Mark G.; Fedchenko, Valentina; Changmai, Piya; Starostin, George

2016-01-01

In a recent interdisciplinary study, Das et al. have attempted to trace the homeland of Ashkenazi Jews and of their historical language, Yiddish (Das et al. 2016. Localizing Ashkenazic Jews to Primeval Villages in the Ancient Iranian Lands of Ashkenaz. Genome Biol Evol. 8:1132–1149). Das et al. applied the geographic population structure (GPS) method to autosomal genotyping data and inferred geographic coordinates of populations supposedly ancestral to Ashkenazi Jews, placing them in Eastern Turkey. They argued that this unexpected genetic result goes against the widely accepted notion of Ashkenazi origin in the Levant, and speculated that Yiddish was originally a Slavic language strongly influenced by Iranian and Turkic languages, and later remodeled completely under Germanic influence. In our view, there are major conceptual problems with both the genetic and linguistic parts of the work. We argue that GPS is a provenancing tool suited to inferring the geographic region where a modern and recently unadmixed genome is most likely to arise, but is hardly suitable for admixed populations and for tracing ancestry up to 1,000 years before present, as its authors have previously claimed. Moreover, all methods of historical linguistics concur that Yiddish is a Germanic language, with no reliable evidence for Slavic, Iranian, or Turkic substrata. PMID:27389685

Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews

PubMed Central

Durst, Ronen; Colombo, Roberto; Shpitzen, Shoshi; Avi, Liat Ben; Friedlander, Yechiel; Wexler, Roni; Raal, Frederick J.; Marais, David A.; Defesche, Joep C.; Mandelshtam, Michail Y.; Kotze, Maritha J.; Leitersdorf, Eran; Meiner, Vardiella

2001-01-01

G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on disease expression. Index cases from Israel (n=46), South Africa (n=24), Russia (n=7), The Netherlands (n=1), and the United States (n=1) were enlisted. All trace their ancestry to Lithuania. A highly conserved haplotype (D19S221:104-D19S865:208-D19S413:74) was identified in G197del chromosomes, suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the deletion was found to be 20 ± 7 generations (the 95% confidence interval is 15–26 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 14th century. This corresponds with the founding of the Jewish community of Lithuania (1338 a.d.), as well as with the great demographic expansion of AJ individuals in eastern Europe, which followed this settlement. The penetrance of mutation-linked severe hypercholesterolemia is high (94% of heterozygotes have a baseline concentration of LDL cholesterol (LDL-C) that is >160 mg/dl), and no significant differences in the mean baseline lipid level of G197del carriers from different countries were found. Polymorphisms of apolipoprotein E and of scavenger-receptor class B type I were observed to have minor effects on the plasma lipid profile. With respect to determinative genetic influences on the biochemical phenotype, there is no evidence that could support the possibility of a selective evolutionary metabolic advantage. Therefore, the founder effect in a rapidly expanding population from a limited number of families remains a simple, parsimonious hypothesis explaining the spread of G197del-LDLR–linked FH in AJ individuals. PMID:11309683

Increased rate of depression and psychosomatic symptoms in Jewish migrants from the post-Soviet-Union to Germany in the 3rd generation after the Shoa.

PubMed

Ullmann, E; Barthel, A; Licinio, J; Petrowski, K; Bornstein, S R; Strauß, B

2013-03-12

The mental health status of persons with Jewish background living in Germany is discussed with special regard to social exclusion like anti-Semitism and overprotective parental rearing behavior, as a transmissional factor of the KZ-Syndrome. These stressors are considered in the context of a higher risk for depression/fear and psychosomatic disorders and also abnormal cortisol levels. The present sample (N=89) is derived from the Jewish population currently living in the German region of Saxony aged between 17-36 years that emigrated from the post-Soviet-Union areas. The mean age was 22.9 years. Two questionnaires to detect psychosomatic symptoms (Giessen complaint list (GBB)-24, hospital anxiety and depression scale) and one questionnaire addressing parental rearing behavior (FEE) were employed. Comparisons were drawn with normative data from the literature about the German residential population. In addition, questions were asked concerning the experience of anti-Semitism in Germany and in the post-Soviet-Union areas. A higher prevalence of depression/fear (10.3% versus 18.2%) and psychosomatic symptoms (M=14.03 versus 17.8; t=2.42; P<0.05) was observed in Jewish migrants to Germany as compared with non-Jewish German residents. Furthermore, anti-Semitic experiences in Germany correlated positively with depression (r=0.293; P<0.01) and fear (r=0.254; P<0.05). The anti-Semitic experiences in the post-Soviet-Union areas also correlated positively with limb pain (r=0.41, P<0.01), fatigue symptoms (r=0.296, P<0.01) and psychocardial symptoms (r=0.219, P<0.05). It was also confirmed that the male respondents recalled a controlling and overprotecting maternal rearing behavior more frequently than the German standard random sample (M=15.39 versus 18.6; t=2.68; P<0.01). The latter also correlated significantly positive with epigastric pain (r=0.349; P<0.01). The present results show that depression, fear and psychosomatic problems are common in Jewish residents with a background of migration from the post-Soviet-Union areas to Germany. Apart from the transgenerational passing of psychological traumata and the Holocaust experiences, other stressors like anti-Semitism, control and overprotection as parental rearing measures appear to be important factors specifically contributing to the pathogenesis of the attributed symptoms.

Increased rate of depression and psychosomatic symptoms in Jewish migrants from the post-Soviet-Union to Germany in the 3rd generation after the Shoa

PubMed Central

Ullmann, E; Barthel, A; Licinio, J; Petrowski, K; Bornstein, S R; Strauß, B

2013-01-01

The mental health status of persons with Jewish background living in Germany is discussed with special regard to social exclusion like anti-Semitism and overprotective parental rearing behavior, as a transmissional factor of the KZ-Syndrome. These stressors are considered in the context of a higher risk for depression/fear and psychosomatic disorders and also abnormal cortisol levels. The present sample (N=89) is derived from the Jewish population currently living in the German region of Saxony aged between 17–36 years that emigrated from the post-Soviet-Union areas. The mean age was 22.9 years. Two questionnaires to detect psychosomatic symptoms (Giessen complaint list (GBB)-24, hospital anxiety and depression scale) and one questionnaire addressing parental rearing behavior (FEE) were employed. Comparisons were drawn with normative data from the literature about the German residential population. In addition, questions were asked concerning the experience of anti-Semitism in Germany and in the post-Soviet-Union areas. A higher prevalence of depression/fear (10.3% versus 18.2%) and psychosomatic symptoms (M=14.03 versus 17.8; t=2.42; P<0.05) was observed in Jewish migrants to Germany as compared with non-Jewish German residents. Furthermore, anti-Semitic experiences in Germany correlated positively with depression (r=0.293; P<0.01) and fear (r=0.254; P<0.05). The anti-Semitic experiences in the post-Soviet-Union areas also correlated positively with limb pain (r=0.41, P<0.01), fatigue symptoms (r=0.296, P<0.01) and psychocardial symptoms (r=0.219, P<0.05). It was also confirmed that the male respondents recalled a controlling and overprotecting maternal rearing behavior more frequently than the German standard random sample (M=15.39 versus 18.6; t=2.68; P<0.01). The latter also correlated significantly positive with epigastric pain (r=0.349; P<0.01). The present results show that depression, fear and psychosomatic problems are common in Jewish residents with a background of migration from the post-Soviet-Union areas to Germany. Apart from the transgenerational passing of psychological traumata and the Holocaust experiences, other stressors like anti-Semitism, control and overprotection as parental rearing measures appear to be important factors specifically contributing to the pathogenesis of the attributed symptoms. PMID:23481628

A life-threatening case of TAFRO syndrome with dramatic response to tocilizumab, rituximab, and pulse steroids: The first case report in Latin America.

PubMed

José, Fabio Freire; Kerbauy, Lucila Nassif; Perini, Guilherme Fleury; Blumenschein, Danielle Isadora; Pasqualin, Denise da Cunha; Malheiros, Denise Maria Avancini Costa; Campos Neto, Guilherme de Carvalho; de Souza Santos, Fabio Pires; Piovesan, Ronaldo; Hamerschlak, Nelson

2017-03-01

This is the report of the first case of TAFRO syndrome (Thrombocytopenia, Anasarca, myelofibrosis, Renal dysfunction, Organomegaly) in Latin America. The patient was a 61-year-old white woman of Ashkenazi Jewish descent, who presented with a history of 8 days of nausea, vomiting, and fever; severe pitting edema in both legs, ascites, splenomegaly, and palpable axillary lymph nodes. Abdominal computed tomography (CT) showed bilateral pleural effusion and retroperitoneal lymph node enlargement. Anasarca and worsening of renal function led to admission to the intensive care unit (ICU) with multiple organ failure, requiring mechanical ventilation, vasopressor medications, and continuous renal replacement therapy (CRRT). Diagnosis of TAFRO syndrome was made on day 18 after admission, based on clinical findings and results of bone marrow and lymph node biopsies. She was treated with methylprednisolone, tocilizumab, and rituximab. One week after the first tocilizumab dose, she had dramatic improvements in respiratory and hemodynamic status, and was weaned from ventilator support and vasopressor medications. After 2 weeks of therapy, CRRT was switched to intermittent hemodialysis. On day 46, the patient was discharged from the ICU to the general ward, and 3 months after admission, she went home. Provided the interleukin-6 measurement is available, this approach is suggested in cases of TAFRO syndrome, in order to customize the treatment.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History

PubMed Central

Palamara, Pier Francesco; Lencz, Todd; Darvasi, Ariel; Pe’er, Itsik

2012-01-01

Data-driven studies of identity by descent (IBD) were recently enabled by high-resolution genomic data from large cohorts and scalable algorithms for IBD detection. Yet, haplotype sharing currently represents an underutilized source of information for population-genetics research. We present analytical results on the relationship between haplotype sharing across purportedly unrelated individuals and a population’s demographic history. We express the distribution of IBD sharing across pairs of individuals for segments of arbitrary length as a function of the population’s demography, and we derive an inference procedure to reconstruct such demographic history. The accuracy of the proposed reconstruction methodology was extensively tested on simulated data. We applied this methodology to two densely typed data sets: 500 Ashkenazi Jewish (AJ) individuals and 56 Kenyan Maasai (MKK) individuals (HapMap 3 data set). Reconstructing the demographic history of the AJ cohort, we recovered two subsequent population expansions, separated by a severe founder event, consistent with previous analysis of lower-throughput genetic data and historical accounts of AJ history. In the MKK cohort, high levels of cryptic relatedness were detected. The spectrum of IBD sharing is consistent with a demographic model in which several small-sized demes intermix through high migration rates and result in enrichment of shared long-range haplotypes. This scenario of historically structured demographies might explain the unexpected abundance of runs of homozygosity within several populations. PMID:23103233

Systematic review of breast cancer biology in developing countries (part 1): Africa, the middle East, eastern europe, Mexico, the Caribbean and South america.

PubMed

Bhikoo, Riyaz; Srinivasa, Sanket; Yu, Tzu-Chieh; Moss, David; Hill, Andrew G

2011-05-13

There has been no systematic appraisal of ethnicity-based variations in breast cancer (BC) biology amongst women from developing countries. A qualitative systematic review was conducted of breast cancer size, stage, grade, histological type, extra-mammary involvement, hormone receptor status as well as patient demographics. This review includes patients from Africa, the Middle East, Eastern Europe, Mexico, the Caribbean and South America. BC in these regions present at an earlier age with large aggressive tumours. Distant metastases are frequently present at the time of diagnosis. African women have a higher frequency of triple negative tumours. Over half of Middle Eastern women have lymph node involvement at the time of diagnosis. Despite experiencing a lower incidence compared to the Ashkenazi Jewish population, Palestinian women have poorer five-year survival outcomes. The majority of women from Mexico and South America have stage two or three disease whilst over sixty percent of women from Eastern Europe have either stage one or stage two disease. The biological characteristics of BC in the Caribbean cannot be fully assessed due to a paucity of data from the region. BC amongst the developing world is characterised by an early peak age of onset with aggressive biological characteristics. Strategies that improve breast cancer awareness, address amenable risk factors and improve early detection are essential.

Systematic review of breast cancer biology in developing countries (part 2): asian subcontinent and South East Asia.

PubMed

Bhikoo, Riyaz; Srinivasa, Sanket; Yu, Tzu-Chieh; Moss, David; Hill, Andrew G

2011-05-13

There has been no systematic appraisal of ethnicity-based variations in breast cancer (BC) biology amongst women from developing countries. A qualitative systematic review was conducted of breast cancer size, stage, grade, histological type, extra-mammary involvement, hormone receptor status as well as patient demographics. This review includes patients from Africa, the Middle East, Eastern Europe, Mexico, the Caribbean and South America. BC in these regions present at an earlier age with large aggressive tumours. Distant metastases are frequently present at the time of diagnosis. African women have a higher frequency of triple negative tumours. Over half of Middle Eastern women have lymph node involvement at the time of diagnosis. Despite experiencing a lower incidence compared to the Ashkenazi Jewish population, Palestinian women have poorer five-year survival outcomes. The majority of women from Mexico and South America have stage two or three disease whilst over sixty percent of women from Eastern Europe have either stage one or stage two disease. The biological characteristics of BC in the Caribbean cannot be fully assessed due to a paucity of data from the region. BC amongst the developing world is characterised by an early peak age of onset with aggressive biological characteristics. Strategies that improve breast cancer awareness, address amenable risk factors and improve early detection are essential.

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PubMed

Ballew, Bari J; Joseph, Vijai; De, Saurav; Sarek, Grzegorz; Vannier, Jean-Baptiste; Stracker, Travis; Schrader, Kasmintan A; Small, Trudy N; O'Reilly, Richard; Manschreck, Chris; Harlan Fleischut, Megan M; Zhang, Liying; Sullivan, John; Stratton, Kelly; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Alter, Blanche P; Boland, Joseph; Burdett, Laurie; Offit, Kenneth; Boulton, Simon J; Savage, Sharon A; Petrini, John H J

2013-08-01

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

PubMed Central

Ballew, Bari J.; Joseph, Vijai; De, Saurav; Sarek, Grzegorz; Vannier, Jean-Baptiste; Stracker, Travis; Schrader, Kasmintan A.; Small, Trudy N.; O'Reilly, Richard; Manschreck, Chris; Harlan Fleischut, Megan M.; Zhang, Liying; Sullivan, John; Stratton, Kelly; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Alter, Blanche P.; Boland, Joseph; Burdett, Laurie; Offit, Kenneth; Boulton, Simon J.

2013-01-01

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1. PMID:24009516

Coping strategies among adolescents: Israeli Jews and Arabs facing missile attacks.

PubMed

Braun-Lewensohn, Orna; Sagy, Shifra; Roth, Guy

2010-01-01

The study examined the use of coping strategies among Israeli Jewish and Arab adolescents who faced missile attacks during the Second Lebanon War. We further explored the role of ethnicity, gender and age in explaining psychological distress and the ways in which different coping strategies relate to health outcomes in the two ethnic groups. Data were gathered from 303 Israeli adolescents (231 Jews and 72 Arabs), 12-19 years old, who filled out self-reported questionnaires among which were demographics; Adolescent Coping Scale, Scale of Psychological Distress (SPD), state anxiety and state anger. Both Jewish and Arab adolescents mostly used "problem solving" coping strategies and reported relatively low levels of psychological distress. Similarities among Jews and Arabs were indicated in the use of "problem solving" coping strategies but not in the use of "reference to others"--and "non-productive" coping strategies. Significant but small effects were indicated for gender and interaction of ethnicity and age on "psychological distress." The coping strategies explained only 35% of the variance of stress reactions for the Jewish group but 51% for the Arab group. The results are discussed against the background of an interactionist approach, considering coping as a function of interaction between the stressful war event and the individual-cultural background.

Obstructive Sleep Apnea: Comparison of Syndrome Severity and Risk Factors for Adult Jewish and Arab Males in Northern Israel.

PubMed

Carel, Rafael S; Brodsky, Inna; Pillar, Giora

2015-08-01

Background: Obstructive sleep apnea (OSA) is a common health problem with an estimated prevalence of 4% among men, many of whom are undiagnosed and untreated. To compare demographic characteristics, health profiles, risk factors, and disease severity in Arab and Jewish men with OSA syndrome. In this cross-sectional study we retrospectively analyzed clinical data from the medical files of men ≥ 22 years old who were referred to the Rambam Medical Center sleep clinic during the period 2001-2009 with a suspected diagnosis of OSA. OSA severity was measured using the apnea-hypopnea index (AHI). Categorical variables were compared using the chi-square test. Relations between OSA severity and a set of independent risk factors were assessed by linear regression analysis. A total of 207 men were included (39 Arabs, 19%; 168 Jews, 81%). Arab participants were younger than their Jewish counterparts (45.5 ± 8.9 years vs. 49.8 ± 11.8, P = 0.04) and their body mass index (BMI) was higher (3.1 ± 5.1 vs. 30.0 ± 4.4, P = 0.001). OSA severity (AHI score) was higher among Arab men, with low, medium and high severity scores seen in 10%, 33% and 56% of Arab men vs. 35%, 29% and 37% of Jewish men, respectively [T(198) = 2.39, P = 0.02]. Mean blood oxygen saturation was comparable. Arab men presenting for evaluation of sleep apnea harbored more severe OSA symptoms, were younger, and had higher BMI compared to Jewish men. Since OSA syndrome evolves for several years until it becomes severe, these findings suggest that Arab men seek medical assistance later than Jewish men with OSA.

Religious Belief: The Main Impact on the Perception of the Nature of Science on Student Teachers

ERIC Educational Resources Information Center

Aflalo, Ester

2013-01-01

This study aims to examine the affect of the degree of religiosity of student teachers, and their nationalism and scientific background on their perception of the nature of science (NOS). First year Arab and Jewish religiously observant, traditional and secular students in Israel (101 in number) with different scientific backgrounds participated…

[A ''humanitarian duty and a matter of honour for German Jewry": "feeble-minded" Jewish children and the Institution in Beelitz].

PubMed

Prestel, Claudia

2014-01-01

In 1908, in collaboration with the Bnei Briss, the German Association of Israelite Communities founded an institution for intellectually disabled Jewish children in Beelitz with the aim of educating 7-14-year-olds, using therapeutic pedagogy. The institution was part of the philanthropic efforts undertaken by German Jewry in that period. It was set up in the wake of the German Kaiser's call to found more philanthropic institutions, and its establishment is indicative of the efforts at integration being made by German Jewry. In their fund-raising material, the German Association of Israelite Communities stressed the "loyalty and patriotism" of German Jewry and described the establishment of the institution as "a humanitarian duty" and "a matter of honour for German Jewry". It was, therefore, demands from the non-Jewish world that led to the foundation of a Jewish institution; however, its establishment was also symbolic of the struggle against anti-Semitism and indicative both of German Jewry's dissimilation and their efforts at integration. The article investigates the struggle of Jewish parents to have their children admitted to the institution, the philosophy and teaching methods of the director Sally Bein (1881-1942) and his wife Friederike Rebeka Bein (1883-1942), the background of the students, the causes of intellectual disability, as well as the disagreements that occurred between parents, teachers and the director. The article also discusses the successes and failures of therapeutic pedagogy.

Pitfalls of the Geographic Population Structure (GPS) Approach Applied to Human Genetic History: A Case Study of Ashkenazi Jews.

PubMed

Flegontov, Pavel; Kassian, Alexei; Thomas, Mark G; Fedchenko, Valentina; Changmai, Piya; Starostin, George

2016-08-16

In a recent interdisciplinary study, Das et al. have attempted to trace the homeland of Ashkenazi Jews and of their historical language, Yiddish (Das et al. 2016 Localizing Ashkenazic Jews to Primeval Villages in the Ancient Iranian Lands of Ashkenaz. Genome Biol Evol. 8:1132-1149). Das et al. applied the geographic population structure (GPS) method to autosomal genotyping data and inferred geographic coordinates of populations supposedly ancestral to Ashkenazi Jews, placing them in Eastern Turkey. They argued that this unexpected genetic result goes against the widely accepted notion of Ashkenazi origin in the Levant, and speculated that Yiddish was originally a Slavic language strongly influenced by Iranian and Turkic languages, and later remodeled completely under Germanic influence. In our view, there are major conceptual problems with both the genetic and linguistic parts of the work. We argue that GPS is a provenancing tool suited to inferring the geographic region where a modern and recently unadmixed genome is most likely to arise, but is hardly suitable for admixed populations and for tracing ancestry up to 1,000 years before present, as its authors have previously claimed. Moreover, all methods of historical linguistics concur that Yiddish is a Germanic language, with no reliable evidence for Slavic, Iranian, or Turkic substrata. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Druze Minority Students Learning Hebrew in Israel: The Relationship of Attitudes, Cultural Background, and Interest of Material to Reading Comprehension in a Second Language.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1996-01-01

Examines Israeli-Druze students' reading comprehension in Hebrew as a second language as related to their attitudes, cultural background, and interest in the material. Participants were administered questionnaires, Arab and Jewish cultural stories, and multiple-choice questions about each story. Results are discussed. (51 references) (Author/CK)

A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road.

PubMed

Tian, Jiao-Yang; Wang, Hua-Wei; Li, Yu-Chun; Zhang, Wen; Yao, Yong-Gang; van Straten, Jits; Richards, Martin B; Kong, Qing-Peng

2015-02-11

Contemporary Jews retain a genetic imprint from their Near Eastern ancestry, but obtained substantial genetic components from their neighboring populations during their history. Whether they received any genetic contribution from the Far East remains unknown, but frequent communication with the Chinese has been observed since the Silk Road period. To address this issue, mitochondrial DNA (mtDNA) variation from 55,595 Eurasians are analyzed. The existence of some eastern Eurasian haplotypes in eastern Ashkenazi Jews supports an East Asian genetic contribution, likely from Chinese. Further evidence indicates that this connection can be attributed to a gene flow event that occurred less than 1.4 kilo-years ago (kya), which falls within the time frame of the Silk Road scenario and fits well with historical records and archaeological discoveries. This observed genetic contribution from Chinese to Ashkenazi Jews demonstrates that the historical exchange between Ashkenazim and the Far East was not confined to the cultural sphere but also extended to an exchange of genes.

A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road

PubMed Central

Tian, Jiao-Yang; Wang, Hua-Wei; Li, Yu-Chun; Zhang, Wen; Yao, Yong-Gang; van Straten, Jits; Richards, Martin B.; Kong, Qing-Peng

2015-01-01

Contemporary Jews retain a genetic imprint from their Near Eastern ancestry, but obtained substantial genetic components from their neighboring populations during their history. Whether they received any genetic contribution from the Far East remains unknown, but frequent communication with the Chinese has been observed since the Silk Road period. To address this issue, mitochondrial DNA (mtDNA) variation from 55,595 Eurasians are analyzed. The existence of some eastern Eurasian haplotypes in eastern Ashkenazi Jews supports an East Asian genetic contribution, likely from Chinese. Further evidence indicates that this connection can be attributed to a gene flow event that occurred less than 1.4 kilo-years ago (kya), which falls within the time frame of the Silk Road scenario and fits well with historical records and archaeological discoveries. This observed genetic contribution from Chinese to Ashkenazi Jews demonstrates that the historical exchange between Ashkenazim and the Far East was not confined to the cultural sphere but also extended to an exchange of genes. PMID:25669617

Attitudes and Cultural Background and Their Relationship to Reading Comprehension in a Second Language: A Comparison of Three Different Social Contexts.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1996-01-01

Investigates the relationship of attitudes and cultural background to reading comprehension in the second language (L2) of Israeli Arab students learning Hebrew and Israeli Jewish and Canadian Arab students learning English. Results showed that the motivation of students to learning their L2 was instrumental rather than integrative, regardless of…

Identification of Germline Genetic Mutations in Pancreatic Cancer Patients

PubMed Central

Salo-Mullen, Erin E.; O’Reilly, Eileen; Kelsen, David; Ashraf, Asad M.; Lowery, Maeve; Yu, Kenneth; Reidy, Diane; Epstein, Andrew S.; Lincoln, Anne; Saldia, Amethyst; Jacobs, Lauren M.; Rau-Murthy, Rohini; Zhang, Liying; Kurtz, Robert; Saltz, Leonard; Offit, Kenneth; Robson, Mark; Stadler, Zsofia K.

2016-01-01

Background Pancreatic adenocarcinoma (PAC) is part of several cancer predisposition syndromes; however, indications for genetic counseling/testing are not well-defined. We sought to determine mutation prevalence and characteristics that predict for inherited predisposition to PAC. Methods We identified 175 consecutive PAC patients who underwent clinical genetics assessment at Memorial Sloan Kettering between 2011–2014. Clinical data, family history, and germline results were evaluated. Results Among 159 PAC patients who pursued genetic testing, 24 pathogenic mutations were identified (15.1%; 95%CI, 9.5%–20.7%), including BRCA2(n=13), BRCA1(n=4), p16(n=2), PALB2(n=1), and Lynch syndrome(n=4). BRCA1/BRCA2 prevalence was 13.7% in Ashkenazi Jewish(AJ) (n=95) and 7.1% in non-AJ(n=56) patients. In AJ patients with strong, weak, or absent family history of BRCA-associated cancers, mutation prevalence was 16.7%, 15.8%, and 7.4%, respectively. Mean age at diagnosis in all mutation carriers was 58.5y(range 45–75y) compared to 64y(range 27–87y) in non-mutation carriers(P=0.02). Although BRCA2 was the most common mutation identified, no patients with early-onset PAC(≤50y) harbored a BRCA2 mutation and the mean age at diagnosis in BRCA2 carriers was equivalent to non-mutation carriers(P=0.34). Mutation prevalence in early-onset patients(n=21) was 28.6%, including BRCA1(n=2), p16(n=2), MSH2(n=1) and MLH1(n=1). Conclusion Mutations in BRCA2 account for over 50% of PAC patients with an identified susceptibility syndrome. AJ patients had high BRCA1/BRCA2 prevalence regardless of personal/family history, suggesting that ancestry alone indicates a need for genetic evaluation. With the exception of BRCA2-associated PAC, inherited predisposition to PAC is associated with earlier age at PAC diagnosis suggesting that this subset of patients may also represent a population warranting further evaluation. PMID:26440929

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

PubMed

Hall, Michael J; Reid, Julia E; Burbidge, Lynn A; Pruss, Dmitry; Deffenbaugh, Amie M; Frye, Cynthia; Wenstrup, Richard J; Ward, Brian E; Scholl, Thomas A; Noll, Walter W

2009-05-15

In women at increased risk for breast and ovarian cancer, the identification of a mutation in breast cancer gene 1 (BRCA1) and BRCA2 has important implications for screening and prevention counseling. Uncertainty regarding the role of BRCA1 and BRCA2 testing in high-risk women from diverse ancestral backgrounds exists because of variability in prevalence estimates of deleterious (disease-associated) mutations in non-white populations. In this study, the authors examined the prevalence of BRCA1 and BRCA2 mutations in an ethnically diverse group of women who were referred for genetic testing. In this cross-sectional analysis, the prevalence of BRCA1 and BRCA2 mutations was assessed in a group of non-Ashkenazi Jewish women who underwent genetic testing. From 1996 to 2006, 46,276 women who met study criteria underwent DNA full-sequence analysis of the BRCA1 and BRCA2 genes. Deleterious mutations were identified in 12.5% of women, and recurrent deleterious mutations (prevalence >2%) were identified in all ancestral groups. Women of non-European descent were younger (mean age, 45.9 years; standard deviation [SD], 11.6 years) than European women (mean age, 50 years; SD, 11.9 years; P < .001). Women of African (15.6%; odds ratio [OR], 1.3 [95% confidence interval (95% CI), 1.1-1.5]) and Latin American (14.8%; OR, 1.2 [95% CI, 1.1-1.4]) ancestries had a significantly higher prevalence of deleterious BRCA1 and BRCA2 mutations compared with women of Western European ancestry (12.1%), primarily because of an increased prevalence of BRCA1 mutations in those 2 groups. Non-European ethnicity was associated strongly with having a variant of uncertain significance; however, reclassification decreased variant reporting (from 12.8%-->5.9%), and women of African ancestry experienced the largest decline (58%). Mutation prevalence was found to be high among women who were referred for clinical BRCA1 and BRCA2 testing, and the risk was similar across diverse ethnicities. BRCA1 and BRCA2 testing is integral to cancer risk assessment in all high-risk women.

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

PubMed Central

Gan-Or, Ziv; Ozelius, Laurie J.; Bar-Shira, Anat; Saunders-Pullman, Rachel; Mirelman, Anat; Kornreich, Ruth; Gana-Weisz, Mali; Raymond, Deborah; Rozenkrantz, Liron; Deik, Andres; Gurevich, Tanya; Gross, Susan J.; Schreiber-Agus, Nicole; Giladi, Nir; Bressman, Susan B.

2013-01-01

Objective: To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD). Methods: Two PD patient cohorts of Ashkenazi Jewish (AJ) ancestry, that included a total of 938 patients, were studied: a cohort of 654 patients from Tel Aviv, and a replication cohort of 284 patients from New York. Eight AJ founder mutations in the HEXA, SMPD1, and MCOLN1 genes were analyzed. The frequencies of these mutations were compared to AJ control groups that included large published groups undergoing prenatal screening and 282 individuals matched for age and sex. Results: Mutation frequencies were similar in the 2 groups of patients with PD. The SMPD1 p.L302P was strongly associated with a highly increased risk for PD (odds ratio 9.4, 95% confidence interval 3.9–22.8, p < 0.0001), as 9/938 patients with PD were carriers of this mutation compared to only 11/10,709 controls. Conclusions: The SMPD1 p.L302P mutation is a novel risk factor for PD. Although it is rare on a population level, the identification of this mutation as a strong risk factor for PD may further elucidate PD pathogenesis and the role of lysosomal pathways in disease development. PMID:23535491

Identification of Genes Promoting Skin Youthfulness by Genome-Wide Association Study

PubMed Central

Chang, Anne L.S.; Atzmon, Gil; Bergman, Aviv; Brugmann, Samantha; Atwood, Scott X; Chang, Howard Y; Barzilai, Nir

2014-01-01

To identify genes that promote facial skin youthfulness (SY), a genome-wide association study on an Ashkenazi Jewish discovery group (n=428) was performed using Affymetrix 6.0 Single-Nucleotide Polymorphism (SNP) Array. After SNP quality controls, 901,470 SNPs remained for analysis. The eigenstrat method showed no stratification. Cases and controls were identified by global facial skin aging severity including intrinsic and extrinsic parameters. Linear regression adjusted for age and gender, with no significant differences in smoking history, body mass index, menopausal status, or personal or family history of centenarians. Six SNPs met the Bonferroni threshold with Pallele<10−8; two of these six had Pgenotype<10−8. Quantitative trait loci mapping confirmed linkage disequilibrium. The six SNPs were interrogated by MassARRAY in a replication group (n=436) with confirmation of rs6975107, an intronic region of KCND2 (potassium voltage-gated channel, Shal-related family member 2) (Pgenotype=0.023). A second replication group (n=371) confirmed rs318125, downstream of DIAPH2 (diaphanous homolog 2 (Drosophila)) (Pallele=0.010, Pgenotype=0.002) and rs7616661, downstream of EDEM1 (ER degradation enhancer, mannosidase α-like 1) (Pgenotype=0.042). DIAPH2 has been associated with premature ovarian insufficiency, an aging phenotype in humans. EDEM1 associates with lifespan in animal models, although not humans. KCND2 is expressed in human skin, but has not been associated with aging. These genes represent new candidate genes to study the molecular basis of healthy skin aging. PMID:24037343

Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid.

PubMed

Alpsoy, Erkan; Akman-Karakas, Ayse; Uzun, Soner

2015-05-01

Autoimmune bullous diseases are rare, organ-specific, a group of blistering disease of skin and mucous membranes. Recent studies suggest that the frequency of the autoimmune bullous diseases has been increasing. Pemphigus vulgaris and bullous pemphigoid are the most frequently reported autoimmune bullous diseases. High incidence of autoimmune bullous diseases in some ethnic groups such as pemphigus in Ashkenazi Jewish, or in some regions such as pemphigus foliaceus in Brazil has been shown to be related to genetic and environmental factors, respectively. Pemphigus has been reported more frequently in the female gender. Although it is most frequently diagnosed between the ages 50 and 60 in European countries, in the remaining countries in the world, it is seen between the ages of 30 and 50. Bullous pemphigoid is generally seen above 70 years of age. Although overall incidence is slightly higher in females, after the age of 80 years it is more frequent in males. Both pemphigus vulgaris and bullous pemphigoid has a chronic course with recurrences. Mortality risk of the patients with bullous pemphigoid was found at least 2 times higher and the mortality risk of the patients with pemphigus was found approximately 3 times higher than that of the general population. In this review, the results obtained from the epidemiological studies were analyzed according to geographic regions, and especially epidemiologic features of two prevalent autoimmune bullous diseases, pemphigus and bullous pemphigoid have been discussed.

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PubMed

Smith, Bradley N; Ancliff, Phil J; Pizzey, Arnold; Khwaja, Asim; Linch, David C; Gale, Rosemary E

2009-03-01

Patients with autosomal dominant (AD), sporadic and X-linked severe congenital neutropenia (SCN) may have mutations in the elastase 2 (ELA2) or Wiskott-Aldrich syndrome (WAS) genes. Homozygous mutations in the HAX1 gene have recently been reported in autosomal recessive (AR) cases of primarily Middle-Eastern descent and the original Kostmann family. We screened 109 predominantly Caucasian SCN kindreds for mutations in these genes; 33 (30%) had 24 different ELA2 mutations, five of them novel, two kindreds (2%) had WAS mutations and four kindreds (4%) had three different HAX1 mutations, two of them novel. One HAX1 mutation (p.Ser43LeufsX11) was found in an AR Ashkenazi Jewish kindred, the other (p.Glu31LysfsX54) in two unrelated British patients with sporadic disease. Microsatellite analysis of the HAX1 locus revealed a common haplotype (maximum distance 4.1 Megabases) for the p.Glu31LysfsX54 patients, suggesting a possible ancestral founder. In functional assays, the level of spontaneous and staurosporine-induced apoptosis was increased in neutrophils from both p.Ser43LeufsX11 patients but not a p.Glu31LysfsX54 patient, suggesting the possible presence of modifying factors. The low incidence of HAX1 mutations in our study suggests that the frequency may vary between racial groups but suggests that irrespective of inheritance or racial origin, SCN patients should be screened for HAX1 mutations.

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

PubMed Central

Hamel, Nancy; Feng, Bing-Jian; Foretova, Lenka; Stoppa-Lyonnet, Dominique; Narod, Steven A; Imyanitov, Evgeny; Sinilnikova, Olga; Tihomirova, Laima; Lubinski, Jan; Gronwald, Jacek; Gorski, Bohdan; Hansen, Thomas v O; Nielsen, Finn C; Thomassen, Mads; Yannoukakos, Drakoulis; Konstantopoulou, Irene; Zajac, Vladimir; Ciernikova, Sona; Couch, Fergus J; Greenwood, Celia M T; Goldgar, David E; Foulkes, William D

2011-01-01

The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite markers and confirmed that all mutation carriers share a common haplotype from a single founder individual. Using a maximum likelihood method that allows for both recombination and mutational events of marker loci, we estimated that the mutation arose some 1800 years ago in either Scandinavia or what is now northern Russia and subsequently spread to the various populations we genotyped during the following centuries, including the AJ population. Age estimates and the molecular evolution profile of the most common linked haplotype in the carrier populations studied further suggest that c.5266dupC likely entered the AJ gene pool in Poland approximately 400–500 years ago. Our results illustrate that (1) BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and (2) the mutation is likely present in many additional European countries where genetic screening of BRCA1 may not yet be common practice. PMID:21119707

Familial pancreatic cancer: Concept, management and issues.

PubMed

Matsubayashi, Hiroyuki; Takaori, Kyoichi; Morizane, Chigusa; Maguchi, Hiroyuki; Mizuma, Masamichi; Takahashi, Hideaki; Wada, Keita; Hosoi, Hiroko; Yachida, Shinichi; Suzuki, Masami; Usui, Risa; Furukawa, Toru; Furuse, Junji; Sato, Takamitsu; Ueno, Makoto; Kiyozumi, Yoshimi; Hijioka, Susumu; Mizuno, Nobumasa; Terashima, Takeshi; Mizumoto, Masaki; Kodama, Yuzo; Torishima, Masako; Kawaguchi, Takahisa; Ashida, Reiko; Kitano, Masayuki; Hanada, Keiji; Furukawa, Masayuki; Kawabe, Ken; Majima, Yoshiyuki; Shimosegawa, Toru

2017-02-14

Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest. However, an ethnic deviation (Ashkenazi Jewish > Caucasian) and a younger onset are common also in FPC. In European countries, "anticipation" is reported in FPC families, as with other hereditary syndromes; a trend toward younger age and worse prognosis is recognized in the late years. The resected pancreases of FPC kindred often show multiple pancreatic intraepithelial neoplasia (PanIN) foci, with various K- ras mutations, similar to colorectal polyposis seen in the FAP patients. As with HBOC patients, a patient who is a BRCA mutation carrier with unresectable pancreatic cancer (accounting for 0%-19% of FPC patients) demonstrated better outcome following platinum and Poly (ADP-ribose) polymerase inhibitor treatment. Western countries have established FPC registries since the 1990s and several surveillance projects for high-risk individuals are now ongoing to detect early PCs. Improvement in lifestyle habits, including non-smoking, is recommended for individuals at risk. In Japan, the FPC study group was initiated in 2013 and the Japanese FPC registry was established in 2014 by the Japan Pancreas Society.

Dr Walter Henry Anderson (1870-1937) and the mission hospital at Safed, Palestine.

PubMed

Stokes, Gordon S

2013-02-01

Walter Henry Anderson, a brewer's clerk in Burton-upon-Trent, became a missionary doctor, supported by a society promoting welfare and evangelism in Jewish communities abroad. His family background was rich in pastoral ministry at home and adventure abroad. Arguably, this background played a part in his decision to serve the Jews of Safed. His life in Palestine entailed much enterprise and hardship as he raised a family, fought disease and set up a mission hospital serving not only the Jewish community but persons of all faiths. His years in Palestine, from 1894 to 1915, were times of peace in the Middle East before the turmoil unleashed by the Great War. Jews from the Diaspora were gaining an increasing foothold in Palestine, their 'Promised Land'. Themes of that era - the rise of Zionism, confrontation between Judaism and evangelical Christianity, conflict between immigrant Jew and Palestinian Arab and the remarkable travels of Lawrence of Arabia were interwoven with the lives of Dr Anderson and his family.

New Partners in Jewish Education: Independent Afterschool Jewish Education Programs and Their Relationships with Congregational Supplementary Schools

ERIC Educational Resources Information Center

Novak Winer, Laura

2017-01-01

In recent years the Jewish community has witnessed a growth in the development of Jewish afterschool programs that provide childcare as well as Jewish educational programming to elementary age children. This possible trend may represent a diversification of options for families seeking to provide Jewish education and Jewish experiences for their…

Rosenak "Teaching Jewish Values"

ERIC Educational Resources Information Center

Resnick, David

2014-01-01

Rosenak's "Teaching Jewish Values" (1986) is perhaps his most accessible book about Jewish education. After diagnosing the "diseases" of Jewish education, he endorses "teaching Jewish values" as the curricular strategy most likely to succeed given the chasm which divides traditional Jewish subject matter and the…

Towards a psychoanalytic understanding of Fascism and anti-Semitism: perceptions from the 1940s.

PubMed

Fisher, David James

2004-01-01

After selecting five representative European psychoanalytic thinkers, all of whom emigrated to the United States, this essay surveys their earliest perceptions and interpretations of the historical and psychological roots of Fascism, with particular emphasis on anti-Semitism. My samples almost all derive from the period before, during, and immediately after World War II. In examining the writings of Otto Fenichel, Ernst Simmel, Erik Homburger Erikson, Rudolf Loewenstein and Bruno Bettelheim, it discusses the various environmental and psychological dimensions of their understandings of racial prejudice. The paper argues that each thinker attempted to integrate historical, sociological, cultural and clinical factors into their psychodynamic formulations about the individual and group mind of the Fascist anti-Semite. This generation of psychoanalysts explained Fascist anti-Semitism by exploring the mechanisms of projection, the process of massive splitting mechanisms of the group mind, fantasies of delinquent adolescent aggrandizement in Hitler, sado-masochistic and perverse oedipal dynamics, and a macabre identification with the torturers on the part of Jewish inmates in the concentration camps, that obliterated the individual's sense of autonomy and capacity to respond morally. The paper points out the pronounced ambivalence of this generation of Jewish analysts and intellectuals toward their own Jewish backgrounds and sense of themselves as Jews. It also argues that this generation muted its left-wing and socialist political tendencies once they arrived in America, taking a turn against politics. It suggests that some of the features of this Jewish ambivalence can be seen in the exploration of a so-called "Jewish psychology," itself a disguised form of racism, a derivative of projection, which may have had rather negative and authoritarian consequences for the psychoanalytic movement in America.

The Internalization of Jewish Values by Children Attending Orthodox Jewish Schools, and Its Relationship to Autonomy-Supportive Parenting and Adjustment

ERIC Educational Resources Information Center

Cohen, Lori R.; Milyavskaya, Marina; Koestner, Richard

2009-01-01

The present study examined the way in which children attending Orthodox Jewish schools internalize the value of both their Jewish studies and secular studies, as well as the value of Jewish cultural practices. A distinction was made between identified internalization, where children perceive Jewish studies and Jewish culture to be an important…

Jewish mysticism in romantic medicine? Indirect incorporation of Kabbalistic elements in the work of Gotthilf Heinrich Schubert.

PubMed

Roelcke, V

1994-01-01

This paper attempts a first outline of an analysis of the connection between the Kabbalah, the tradition of Jewish mysticism, and medicine in the Romantic age. The physician and natural philosopher Gotthilf Heinrich Schubert (1780-1860), a friend and pupil of the philosopher Friedrich Wilhelm Joseph Schelling, is chosen as a representative of the era. The political, institutional, and philosophical background at the beginning of the 19th century is outlined to make intelligible the contemporary disposition for mystical ideas. The historical lines of connection between the Kabbalistic tradition and Romantic medical thought as represented by Schubert are investigated, and examples are given for some correspondences of ideas and topics. The specific combination of these topoi, and a multitude of historical lines of connection, primarily through the work of Schelling and the theologian Friedrich Christoph Oetinger, support the hypothesis that Schubert was indirectly influenced by ideas from the Kabbalah. Finally, the history of the reception of Romantic medicine is sketched, with special regard to those strands that are likely to have incorporated elements from the Jewish mystical tradition.

Coping resources as explanatory factors of stress reactions during missile attacks: comparing Jewish and Arab adolescents in Israel.

PubMed

Braun-Lewensohn, Orna; Sagy, Shifra

2011-06-01

The aim of this study was to explore coping resources as explanatory factors in reducing emotional distress of adolescents in an acute stress situation. We compared two ethnic groups-Jewish and Arab-Bedouin Israelis-during intensive missile attacks in January 2009. Data were gathered from 138 Israeli-Jews and 84 Israeli-Arab Bedouins, 12-18 years old, who filled out self reported questionnaires among which state anxiety, state anger, and psychological distress (SPD) were measures of emotional distress, and sense of coherence (SOC) and hope index served as measures of coping resources. Findings indicated no differences between the two groups on state anxiety, SPD and hope levels. Arab Bedouins reported higher levels of state anger and lower levels of sense of coherence. The coping resources, however, explained the stress reactions differently among the two groups. While SOC made a major contribution in explaining stress reactions among Jewish adolescents, hope index explained stress reactions only for the Arab group. The findings are discussed against the background of the salutogenic theory and the cultural differences between the two ethnic groups.

Correlates of Successful Aging: Are They Universal?

ERIC Educational Resources Information Center

Litwin, Howard

2005-01-01

The analysis compared differing correlates of life satisfaction among three diverse population groups in Israel, examining background and health status variables, social environment factors, and activity indicators. Multiple regression analysis revealed that veteran Jewish-Israelis (n = 2,043) had the largest set of predictors, the strongest of…

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Horowitz, M.; Tzuri, G.; Eyal, N.

1993-10-01

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the allele-specific oligonucleotide hybridization method. The N37OS mutation appeared in 69.77% of the mutated alleles in Jewis patients and in 22.86% of the mutated alleles in non-Jews. The 84GG mutation, which has not been found so farmore » among non-Jewish patients, existed in 10.17% of the disease alleles among Jewish patients. The IVS2+1 mutation constituted 2.26% of the disease alleles among Jewish Patients and 1.43% among the non-Jewish patients. RecTL, a complex allele containing four single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients and was found in two (1.43%) of the patients of non-Jewish extraction. Another complex allele, designated [open quotes]RecNcil[close quotes] and containing three single-point mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two (0.56%) of the Jewish families. The prevalence of the L444P mutation among non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish patients was only 4.24%. The prevalence of two other point mutations-D409H and R463C- was 5.00% and 3.57%, respectively, among non-Jewish patients and was not found among the Jewish Gaucher patient population. The prevalence of the R496H mutation, found so far only among Jewish patients, is 1.13%. The results presented demonstrate that seven mutations identify 90.40% of the mutations among Jewish patients and that these seven mutations allow diagnosis of only 73.52% of the non-Jewish patients. Identification of additional mutant alleles will enhance the accuracy of carrier detection. 33 refs, 3 figs., 4 tabs.« less

Teaching and Learning Jewish History in the 21st Century: New Priorities and Opportunities

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2018-01-01

New 21st-century circumstances in the Jewish world--including the changing nature of Jewish identification, the retreat from identity and continuity as singular aims of Jewish education, the democratization of Jewish learning opportunities, increased emphasis on informal and experiential Jewish education activities, and demonstrable interest among…

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations.

PubMed

Kopelman, Naama M; Stone, Lewi; Wang, Chaolong; Gefel, Dov; Feldman, Marcus W; Hillel, Jossi; Rosenberg, Noah A

2009-12-08

Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent.

Individual Differences in Cognitive Functioning in the Elderly--Phenomena and Interpretation.

ERIC Educational Resources Information Center

North, Alvin J.; Ulatowska, Hanna K.

1979-01-01

Residents (N=27) of a Jewish home for the aged were given a battery of 25 tests of cognitive abilities. There were marked individual differences among participants. Poorer performance was associated with carrying a diagnosis of organic brain syndrome and with a number of other background variables. (Author)

Adjustment of High School Dropouts in Closed Religious Communities

ERIC Educational Resources Information Center

Itzhaki, Yael; Itzhaky, Haya; Yablon, Yaacov B.

2018-01-01

Background: While extensive research has been done on high-school dropouts' adjustment, there is little data on dropouts from closed religious communities. Objective: This study examines the contribution of personal and social resources to the adjustment of high school dropouts in Ultraorthodox Jewish communities in Israel. Method: Using a…

The Learning of Hebrew by Israeli Arab Students in Israel.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1998-01-01

Examines Israeli Arab students' attitudes and cultural backgrounds in relation to their reading comprehension of Jewish and Arab stories. States Arab students' motivation toward learning Hebrew as a second language is instrumental. Finds students comprehend texts from their own culture (Arab) better than those from the unfamiliar culture…

Teachers' Study Guide: Jewish Legends. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Wiesel, Elie

The Jewish legends which are a major part of Jewish life and literature are the focus of this study guide for teachers. Excerpts from a lecture on Jewish legends are followed by suggestions for classroom activities, discussion topics related to the study of Jewish legends, and a bibliography for both teachers and students on Jewish legend and…

"Low Income"--Levels in the Jewish Population; The "Jewish Poor" in Los Angeles. A Summary of Findings.

ERIC Educational Resources Information Center

Massarik, Fred

The concept "Jewish Poor" is defined simply as Jewish households (viz. households containing one or more persons defined as Jewish) whose total household cash income (1969, comparable to U.S. Census) was under 4000 dollars. The data were obtained from four sources: (1) analysis of "Jewish Poor" drawn from Los Angeles phase of…

Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report.

PubMed

de Jonge, M M; Mooyaart, A L; Vreeswijk, M P G; de Kroon, C D; van Wezel, T; van Asperen, C J; Smit, V T H B M; Dekkers, O M; Bosse, T

2017-02-01

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. Pubmed, EMBASE and Web of Science were searched in July 2016 for articles assessing the association between USC and germline BRCA1/2-PMs. Pooled analysis and comparisons were performed using a random effects logistic model, stratifying for ethnicity (Ashkenazi versus non-Ashkenazi). In addition, tumour tissue from an USC case with a hereditary BRCA1-PM was analysed for loss of heterozygosity at the BRCA1 locus and was functionally analysed for homologous recombination proficiency. The search yielded 1893 citations, 10 studies were included describing 345 USC patients. For Ashkenazi Jews, the pooled odds ratio of having a germline BRCA1/2-PM was increased in USC patients compared with the general Ashkenazi population: odds ratio 5.4 (95%confidence interval: 2.2-13.1). In the patient with USC, we identified the known germline BRCA1-PM in the tumour DNA. Furthermore, we showed both loss of heterozygosity of the wild-type allele and a deficiency of homologous recombination. This study suggests that USC may be an overlooked component of BRCA1/2-associated hereditary breast and ovarian cancer syndrome. Screening for germline BRCA1/2-PMs should be considered in patients diagnosed with USC, especially in cases with a positive first-degree family history for breast and/or ovarian cancer. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Relationship Between Background Characteristics and Death Anxiety in Times of War: A Comparison Between Three Generations Arab and Jewish Families in Israel.

PubMed

Ron, Pnina

2016-11-01

(a) To compare the levels of death anxiety between the Jewish and Arab population in Israel after the Second Lebanon War and the Casting Lead Operation. (b) To compare the levels of death anxiety between three families' generations: elderly parents, their adult children and their adult grandchildren and (c) to learn about the relationship between background characteristics and death anxiety in times of war. The sample included 172 trios of elderly parents (ages 65 and up), their middle aged children (ages 41-64) and, their young adult children (ages 20-40) living at the northern and southern of Israel. Three quarters of the participants were Jews and the others were Arabs (including Muslims, Christians and Druze). Participants answered a self-report questioner. Death anxiety levels were measured by the Carmel and Mutran's instrument (1999). In general, the highest levels of death anxiety were found among the elderly parents (p < 0.01). Regarding the nationality and the gender variables, the highest levels of death anxiety were found among the adult Jewish daughters' group (p < 0.001). Nationality was found to be the most contributive variable for predicting death anxiety levels among the three generations; the sense of mastery was the second contributor, to predict death anxiety levels among the three generations' participants. Elderly population, Arab population and women, are at high risk to suffer from high levels of death anxiety in times of war in Israel. Special attention should be given to this population groups.

[The importance of Jewish nursing in World War I as shown by the example of the Jewish nurses' home in Stuttgart].

PubMed

Ruess, Susanne

2010-01-01

The history of Jewish nursing in World War I has so far not been central to medical history research. Rosa Bendit's war diary is still the only source available on the voluntary service Jewish nurses provided during World War I. Their number was small compared to that of nurses in general. Jewish nursing in Germany has hardly been researched. Jewish nurses, like their Christian colleagues, took on wartime nursing tasks voluntarily. This paper will focus on the experiences of the nurses who were sent to various locations in East and West by the Stuttgart Jewish Nurses' Home. Based on quotations from the war diary their position within the medical service will be described, compared and analyzed. The paper draws attention to special characteristics in the comparison ofJewish and Christian nurses and explores issues such as religious observance, religious discrimination, patriotism and differences in the evaluation of the nurses' work. A brief outline of the history of the Stuttgart Jewish Nurses' Home illustrates their working conditions. The Jewish nurses applied themselves with as much effort and devotion as their Christian counterparts. Although there were only few of them, the Jewish nurses managed to establish a recognized position for themselves within the medical service. The history of Jewish nursing in Stuttgart ended in 1941 when the Jewish Nurses' Home was dissolved by the Nazis and four nurses were murdered in concentration camps.

Ecology and Pedagogy: On the Educational Implications of Postwar Environmental Philosophy

ERIC Educational Resources Information Center

Hotam, Yotam

2010-01-01

Environmentalism, an ethical imperative to preserve and protect nature, has become in the last decade a central ethical, political and pedagogic theme. Against this background, this article focuses on the postwar philosophy of the German-Jewish scholar Hans Jonas (1903-93). It points to Jonas's radical theory of pedagogic responsibility, and to…

Analysis of genetic data on Jewish populations. I. Historical background, demographic features, and genetic markers.

PubMed Central

Bonné-Tamir, B; Karlin, S; Kenett, R

1979-01-01

Part I describes the data sets on which the analysis of Part II is based. This covers the nature of the populations sampled, the extent to which the samples are representative, and a brief review of historical and demographic facts on the populations involved. PMID:380329

Case Studies in Censorship: Censoring "The Merchant of Venice."

ERIC Educational Resources Information Center

Gray, Richard A.

1991-01-01

Reviews censorship of "The Merchant of Venice," which has been based on its portrayal of the Jewish character Shylock. Background information is followed by an annotated bibliography which includes 15 citations dealing with Shylock, 22 citations to articles that address the censorship of the play, and 64 works of literature that have…

Teaching Jewish-Christian Relations in the University Classroom.

ERIC Educational Resources Information Center

Shermis, Michael, Ed.

1988-01-01

This special issue on "Teaching Jewish-Christian Relations in the University Classroom" is meant to be a resource for those involved in Jewish studies and who teach about Jewish-Christian relations. It offers an introduction to the topics of the Jewish-Christian encounter, Israel, anti-Semitism, Christian Scriptures, the works of Elie…

Jewish Women's Psychological Well-Being: The Role of Attachment, Separation, and Jewish Identity

ERIC Educational Resources Information Center

Goldberg, Julie L.; O'Brien, Karen M.

2005-01-01

The purpose of this study was to examine the contributions of attachment, separation, and Jewish identity to psychological well-being in a sample of 115 late adolescent Jewish women. Results from multiple regression analyses demonstrated that attachment to parents, separation from parents, and Jewish identity collectively accounted for variance in…

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

PubMed

Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias A; Chung, Wendy K; Elpeleg, Orly; Edvardson, Simon

2015-08-01

L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood-brain barrier. Within the brain, its synthesis is confined to astrocytes, and its shuttle to neuronal cells is performed by a dedicated neutral amino acid transporter, ASCT1. Using exome analysis we identified the recessive mutations, p.E256K, p.L315fs, and p.R457W, in SLC1A4, the gene encoding ASCT1, in patients with developmental delay, microcephaly and hypomyelination; seizure disorder was variably present. When expressed in a heterologous system, the mutations did not affect the protein level at the plasma membrane but abolished or markedly reduced L-serine transport for p.R457W and p.E256K mutations, respectively. Interestingly, p.E256K mutation displayed a lower L-serine and alanine affinity but the same substrate selectivity as wild-type ASCT1. The clinical phenotype of ASCT1 deficiency is reminiscent of defects in L-serine biosynthesis. The data underscore that ASCT1 is essential in brain serine transport. The SLC1A4 p.E256K mutation has a carrier frequency of 0.7% in the Ashkenazi-Jewish population and should be added to the carrier screening panel in this community. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Familial pancreatic cancer: Concept, management and issues

PubMed Central

Matsubayashi, Hiroyuki; Takaori, Kyoichi; Morizane, Chigusa; Maguchi, Hiroyuki; Mizuma, Masamichi; Takahashi, Hideaki; Wada, Keita; Hosoi, Hiroko; Yachida, Shinichi; Suzuki, Masami; Usui, Risa; Furukawa, Toru; Furuse, Junji; Sato, Takamitsu; Ueno, Makoto; Kiyozumi, Yoshimi; Hijioka, Susumu; Mizuno, Nobumasa; Terashima, Takeshi; Mizumoto, Masaki; Kodama, Yuzo; Torishima, Masako; Kawaguchi, Takahisa; Ashida, Reiko; Kitano, Masayuki; Hanada, Keiji; Furukawa, Masayuki; Kawabe, Ken; Majima, Yoshiyuki; Shimosegawa, Toru

2017-01-01

Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest. However, an ethnic deviation (Ashkenazi Jewish > Caucasian) and a younger onset are common also in FPC. In European countries, “anticipation” is reported in FPC families, as with other hereditary syndromes; a trend toward younger age and worse prognosis is recognized in the late years. The resected pancreases of FPC kindred often show multiple pancreatic intraepithelial neoplasia (PanIN) foci, with various K-ras mutations, similar to colorectal polyposis seen in the FAP patients. As with HBOC patients, a patient who is a BRCA mutation carrier with unresectable pancreatic cancer (accounting for 0%-19% of FPC patients) demonstrated better outcome following platinum and Poly (ADP-ribose) polymerase inhibitor treatment. Western countries have established FPC registries since the 1990s and several surveillance projects for high-risk individuals are now ongoing to detect early PCs. Improvement in lifestyle habits, including non-smoking, is recommended for individuals at risk. In Japan, the FPC study group was initiated in 2013 and the Japanese FPC registry was established in 2014 by the Japan Pancreas Society. PMID:28246467

Gaucher disease epidemiology and natural history: a comprehensive review of the literature.

PubMed

Nalysnyk, Luba; Rotella, Philip; Simeone, Jason C; Hamed, Alaa; Weinreb, Neal

2017-03-01

The objectives of this research were: (1) to heighten awareness of Gaucher disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of organ involvement and disease severity, to clinicians most likely to encounter these patients, and; (2) to summarize the published evidence on GD epidemiology which is essential to accurately depict the total societal burden of this rare worldwide disorder. A comprehensive literature review was undertaken to summarize the published evidence on the epidemiology of GD. MEDLINE, EMBASE, CENTRAL, and 'grey' literature sources published in English between January 1990 and March 2015 were searched to identify relevant publications. In total, 188 full-text articles were reviewed and findings from 49 studies are summarized herein. The standardized birth incidence of GD in the general population varied from 0.39 to 5.80 per 100 000, and prevalence ranged from 0.70 to 1.75 per 100 000, respectively. Time from onset of GD symptoms to clinical diagnosis was highly variable, with median delays of up to 7 years reported. The incidence and prevalence of GD is substantially higher among the Ashkenazi Jewish population than the general population. Limited epidemiologic information was available from Latin America, Africa, Asia, and developed nations such as the United States, Germany, and the United Kingdom. Signs and symptoms of GD frequently mimic more common hematologic conditions resulting in missed or delayed diagnosis. Early diagnosis and prompt initiation of treatment when indicated is crucial to prevent or minimize life-altering or life-threatening liver and skeletal complications.

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

PubMed

Kirchhoff, Tomas; Gaudet, Mia M; Antoniou, Antonis C; McGuffog, Lesley; Humphreys, Manjeet K; Dunning, Alison M; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Dork, Thilo; Schürmann, Peter; Karstens, Johann H; Hillemanns, Peter; Couch, Fergus J; Olson, Janet; Vachon, Celine; Wang, Xianshu; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W R; Burwinkel, Barbara; Meindl, Alfons; Brauch, Hiltrud; Hamann, Ute; Ko, Yon-Dschun; Broeks, Annegien; Schmidt, Marjanka K; Van 't Veer, Laura J; Braaf, Linde M; Johnson, Nichola; Fletcher, Olivia; Gibson, Lorna; Peto, Julian; Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Rahman, Nazneen; Wu, Pei-Ei; Yu, Jyh-Cherng; Hsiung, Chia-Ni; Shen, Chen-Yang; Southey, Melissa C; Hopper, John L; Hammet, Fleur; Van Dorpe, Thijs; Dieudonne, Anne-Sophie; Hatse, Sigrid; Lambrechts, Diether; Andrulis, Irene L; Bogdanova, Natalia; Antonenkova, Natalia; Rogov, Juri I; Prokofieva, Daria; Bermisheva, Marina; Khusnutdinova, Elza; van Asperen, Christi J; Tollenaar, Robert A E M; Hooning, Maartje J; Devilee, Peter; Margolin, Sara; Lindblom, Annika; Milne, Roger L; Arias, José Ignacio; Zamora, M Pilar; Benítez, Javier; Severi, Gianluca; Baglietto, Laura; Giles, Graham G; Spurdle, Amanda B; Beesley, Jonathan; Chen, Xiaoqing; Holland, Helene; Healey, Sue; Wang-Gohrke, Shan; Chang-Claude, Jenny; Mannermaa, Arto; Kosma, Veli-Matti; Kauppinen, Jaana; Kataja, Vesa; Agnarsson, Bjarni A; Caligo, Maria A; Godwin, Andrew K; Nevanlinna, Heli; Heikkinen, Tuomas; Fredericksen, Zachary; Lindor, Noralane; Nathanson, Katherine L; Domchek, Susan M; Loman, Niklas; Karlsson, Per; Stenmark Askmalm, Marie; Melin, Beatrice; von Wachenfeldt, Anna; Hogervorst, Frans B L; Verheus, Martijn; Rookus, Matti A; Seynaeve, Caroline; Oldenburg, Rogier A; Ligtenberg, Marjolijn J; Ausems, Margreet G E M; Aalfs, Cora M; Gille, Hans J P; Wijnen, Juul T; Gómez García, Encarna B; Peock, Susan; Cook, Margaret; Oliver, Clare T; Frost, Debra; Luccarini, Craig; Pichert, Gabriella; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Ong, Kai-Ren; Cook, Jackie; Douglas, Fiona; Hodgson, Shirley; Evans, D Gareth; Eeles, Rosalind; Gold, Bert; Pharoah, Paul D P; Offit, Kenneth; Chenevix-Trench, Georgia; Easton, Douglas F

2012-01-01

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models.

PubMed

Lindor, Noralane M; Lindor, Rachel A; Apicella, Carmel; Dowty, James G; Ashley, Amanda; Hunt, Katherine; Mincey, Betty A; Wilson, Marcia; Smith, M Cathie; Hopper, John L

2007-01-01

Models have been developed to predict the probability that a person carries a detectable germline mutation in the BRCA1 or BRCA2 genes. Their relative performance in a clinical setting is unclear. To compare the performance characteristics of four BRCA1/BRCA2 gene mutation prediction models: LAMBDA, based on a checklist and scores developed from data on Ashkenazi Jewish (AJ) women; BRCAPRO, a Bayesian computer program; modified Couch tables based on regression analyses; and Myriad II tables collated by Myriad Genetics Laboratories. Family cancer history data were analyzed from 200 probands from the Mayo Clinic Familial Cancer Program, in a multispecialty tertiary care group practice. All probands had clinical testing for BRCA1 and BRCA2 mutations conducted in a single laboratory. For each model, performance was assessed by the area under the receiver operator characteristic curve (ROC) and by tests of accuracy and dispersion. Cases "missed" by one or more models (model predicted less than 10% probability of mutation when a mutation was actually found) were compared across models. All models gave similar areas under the ROC curve of 0.71 to 0.76. All models except LAMBDA substantially under-predicted the numbers of carriers. All models were too dispersed. In terms of ranking, all prediction models performed reasonably well with similar performance characteristics. Model predictions were widely discrepant for some families. Review of cancer family histories by an experienced clinician continues to be vital to ensure that critical elements are not missed and that the most appropriate risk prediction figures are provided.

Cancer Risk Information Sharing: The Experience of Individuals Receiving Genetic Counseling for BRCA1/2 Mutations

PubMed Central

Chopra, Ishveen; Kelly, Kimberly M.

2017-01-01

Genetic counseling and testing for familial cancer is a unique context for the communication of risk information in the family. This study utilized a theoretical framework based on the family systems perspective to understand intra-familial cancer risk communication patterns in the Ashkenazi Jewish population. Individuals (n=120) at an elevated risk for BRCA1/2 mutations were included. Change in communication patterns over time was assessed using McNemar tests. Associations with communication patterns were assessed with multivariable logistic regression. Overall, the proportion of participants encouraged by others significantly (P<0.001) increased from pre- to post-genetic counseling. A higher proportion of participants were encouraged by female family members compared to male family members. Participants who were older, had no personal history of cancer, and had a higher cancer risk perception were more likely to be encouraged by others for genetic testing. Participant’s intent to encourage family members for genetic testing from pre-counseling to post-receipt of genetic test results decreased by 16.7%. Participants who had no personal history of cancer and had informative test results for a BRCA1/2 mutation were more likely to encourage other family members for genetic testing. In addition, qualitative findings suggested that closeness among family members, concern for family, especially future generations, and cognizance about cancer risk facilitates information sharing and encouragement for genetic testing. Our findings indicate that intra-familial cancer risk communication varies with structure of family relationships, where genetic counseling played an important role in improving intra-familial cancer risk communication. PMID:28112991

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PubMed

van der Merwe, N C; Hamel, N; Schneider, S-R; Apffelstaedt, J P; Wijnen, J T; Foulkes, W D

2012-02-01

Founder mutations in BRCA1 and BRCA2 have been reported in many different populations. We studied 105 Coloured and 16 Black Xhosa women residing in the Western Cape of South Africa diagnosed with breast cancer. We screened these patients using our standard panel of six previously reported SA Afrikaner and Ashkenazi Jewish BRCA1/2 mutations and identified only two Afrikaner mutations. Further screening by the protein truncation test (BRCA1 exon 11, and BRCA2 exons 10 and 11) revealed an additional four deleterious mutations (BRCA1 c.1504_ 1508del,p.Leu502AlafsX2, BRCA2 c.2826_2829del,p.Ile943LysfsX16, c.6447_6448dup,p.Lys2150IlefsX19 and c.5771_5774del,p.Ile1924Argfs X38). The latter, also known in Breast Cancer Information Core nomenclature as 5999del4, was identified in 4 of 105 (3.8%) Coloureds and 4 of 16 (25%) Xhosa women, which makes it a frequent founder mutation in the Western Cape Province. Although this mutation was previously reported to occur in the Netherlands, haplotype analysis indicated two distinct origins for the Dutch and South African mutations, excluding the possibility of a common Dutch ancestor and suggesting gene flow from the indigenous tribes such as the Xhosa to the Coloured population instead. Further studies to determine the carrier rate of this variant in the Xhosa and other SA populations are warranted. © 2011 John Wiley & Sons A/S.

Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.

PubMed

Roe, Charles R; Bottiglieri, Teodoro; Wallace, Mary; Arning, Erland; Martin, Alan

2010-01-01

APBD is a rare disorder most often affecting adults of Ashkenazi Jewish origin due to partial deficiency of the glycogen brancher enzyme (GBE). It is characterized by progressive involvement of both the central and peripheral nervous systems and deposition of amylopectin-like polyglucosan bodies. There have been no metabolic derangements that might suggest effective therapy nor have there been any clinical improvements for control of its relentless progression. The APBD patients, in this study, experienced stabilization of disease progression, and limited functional improvement in most patients with dietary triheptanoin. Due to a plateau in clinical improvement, the reduced plasma creatinine and methionine levels prompted evaluation of other plasma methylation intermediates in this complex integrated pathway system: decreased S-adenosylmethionine (SAM) (p<0.002), increased S-adenosylhomocysteine (p<0.001), elevated creatine (p=0.001) and increased free choline (p<0.001). Plasma levels of homocysteine and guanidinoacetate were normal. Impaired metabolism of choline and creatine may relate to the progressive dysmyelination and progressive muscle weakness associated with APBD. The partial deficiency of GBE appears to produce a secondary energy deficit possibly related to inadequate reserves of normal glycogen for efficient degradation to free glucose. Dysfunctional regulation of glycogen synthase (GS) may result in continued synthesis and deposition of polyglucosan bodies. This investigation has demonstrated, for the first time, arrest of clinical deterioration with limited functional recovery with triheptanoin diet therapy and the existence of significant derangement of methylation pathways that, when corrected, may lead to even greater therapeutic benefits. Copyright © 2010 Elsevier Inc. All rights reserved.

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

PubMed Central

Antoniou, Antonis C.; McGuffog, Lesley; Humphreys, Manjeet K.; Dunning, Alison M.; Bojesen, Stig E.; Nordestgaard, Børge G.; Flyger, Henrik; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Dork, Thilo; Schürmann, Peter; Karstens, Johann H.; Hillemanns, Peter; Couch, Fergus J.; Olson, Janet; Vachon, Celine; Wang, Xianshu; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W.R.; Burwinkel, Barbara; Meindl, Alfons; Brauch, Hiltrud; Hamann, Ute; Ko, Yon-Dschun; Broeks, Annegien; Schmidt, Marjanka K.; Van ‘t Veer, Laura J.; Braaf, Linde M.; Johnson, Nichola; Fletcher, Olivia; Gibson, Lorna; Peto, Julian; Turnbull, Clare; Seal, Sheila; Renwick, Anthony; Rahman, Nazneen; Wu, Pei-Ei; Yu, Jyh-Cherng; Hsiung, Chia-Ni; Shen, Chen-Yang; Southey, Melissa C.; Hopper, John L.; Hammet, Fleur; Van Dorpe, Thijs; Dieudonne, Anne-Sophie; Hatse, Sigrid; Lambrechts, Diether; Andrulis, Irene L.; Bogdanova, Natalia; Antonenkova, Natalia; Rogov, Juri I.; Prokofieva, Daria; Bermisheva, Marina; Khusnutdinova, Elza; van Asperen, Christi J.; Tollenaar, Robert A.E.M.; Hooning, Maartje J.; Devilee, Peter; Margolin, Sara; Lindblom, Annika; Milne, Roger L.; Arias, José Ignacio; Zamora, M. Pilar; Benítez, Javier; Severi, Gianluca; Baglietto, Laura; Giles, Graham G.; kConFab; Group, AOCS Study; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Holland, Helene; Healey, Sue; Wang-Gohrke, Shan; Chang-Claude, Jenny; Mannermaa, Arto; Kosma, Veli-Matti; Kauppinen, Jaana; Kataja, Vesa; Agnarsson, Bjarni A.; Caligo, Maria A.; Godwin, Andrew K.; Nevanlinna, Heli; Heikkinen, Tuomas; Fredericksen, Zachary; Lindor, Noralane; Nathanson, Katherine L.; Domchek, Susan M.; SWE-BRCA; Loman, Niklas; Karlsson, Per; Askmalm, Marie Stenmark; Melin, Beatrice; von Wachenfeldt, Anna; HEBON; Hogervorst, Frans B. L.; Verheus, Martijn; Rookus, Matti A.; Seynaeve, Caroline; Oldenburg, Rogier A.; Ligtenberg, Marjolijn J.; Ausems, Margreet G.E.M.; Aalfs, Cora M.; Gille, Hans J.P.; Wijnen, Juul T.; Gómez García, Encarna B.; EMBRACE; Peock, Susan; Cook, Margaret; Oliver, Clare T.; Frost, Debra; Luccarini, Craig; Pichert, Gabriella; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Ong, Kai-Ren; Cook, Jackie; Douglas, Fiona; Hodgson, Shirley; Evans, D. Gareth; Eeles, Rosalind; Gold, Bert; Pharoah, Paul D.P.; Offit, Kenneth; Chenevix-Trench, Georgia; Easton, Douglas F.

2012-01-01

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00–1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80–1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk. PMID:22768030

Texts in Tension: Negotiating Jewish Values in the Adult Jewish Learning Classroom

ERIC Educational Resources Information Center

Woocher, Meredith L.

2004-01-01

In this paper, the author begins with a brief classroom scene that illustrates a number of significant features of contemporary American Jewish life. The engagement of adult students with Jewish text study is an example and outgrowth of the flourishing of programs of adult Jewish learning over the past two decades. Thousands of similar Jewish…

Technology: So Pervasive in Jewish Living, so Absent from Jewish Educational Research

ERIC Educational Resources Information Center

Schein, Jeffrey

2016-01-01

The Jewish world, like the world civilization that hosts it, is awash in new technologies. Appropriately, there is a great deal of attention paid to how to improve the Jewish world and Jewish identity through technology. Paradoxically there is a paucity of literature characterizing the relationship of Jews and Judaism to technology. This article…

Jewish Medical Students and Graduates at the Universities of Padua and Leiden: 1617–1740*

PubMed Central

Collins, Kenneth

2013-01-01

The first Jewish medical graduates at the University of Padua qualified in the fifteenth century. Indeed, Padua was the only medical school in Europe for most of the medieval period where Jewish students could study freely. Though Jewish students came to Padua from many parts of Europe the main geographical sources of its Jewish students were the Venetian lands. However, the virtual Padua monopoly on Jewish medical education came to an end during the seventeenth century as the reputation of the Dutch medical school in Leiden grew. For aspiring medieval Jewish physicians Padua was, for around three hundred years, the first, simplest, and usually the only choice. PMID:23908853

Train up a Child: On the "Maskilic" Attempt to Change the Habitus of Jewish Children and Young Adults

ERIC Educational Resources Information Center

Shavit, Zohar

2016-01-01

Members of the Jewish Enlightenment movement and Jewish financial entrepreneurs undertook an active, conscious project to effect significant transformations in the Jewish habitus in German-speaking areas during the late 18th and early 19th centuries. A symbiotic relationship allowed these groups to disseminate a new vision of Jewish society…

Armed Conflict in Syria: Background and U.S. Response

DTIC Science & Technology

2013-09-06

various denominations) 10%, Jewish (very small communities in Damascus, AI Qamishli, and Aleppo) Ethnic Groups: Arab 90.3%, Kurds, Armenians...struggled with many of the challenges that have bred deep dissatisfaction in other Arab autocracies, including high unemployment , high inflation...relationships. Socioeconomic differences abound among farmers, laborers, middle-class wage earners, public sector employees, military officials, and

Same Difference: A Fox Family Channel Afternoon Special for Cable in the Classroom. [Videotape with] Guide for Educators.

ERIC Educational Resources Information Center

KIDSNET, Washington, DC.

"Same Difference," the television program featured in this videotape and teaching guide, tells the story of a friendship that blossoms into love between Shelley and Vinnie, a young couple with different ethnic and religious backgrounds, Jewish and Italian Catholic. Despite family opposition and personal difficulties, the spirit of…

A Mother and Her Daughters: Jewish Teachers and the Fight against Apartheid

ERIC Educational Resources Information Center

Wieder, Alan

2007-01-01

Background: Before 1999, there was little research on teachers and apartheid aside from some biographical sketches. "A Mother and Her Daughters" is part of an ongoing oral history project of teachers who fought apartheid. It is contextualized through the literature on Jews and apartheid in South Africa and joins the growing literature on…

School Ethnicity and Governance Influences on Work Absence of Teachers and School Administrators

ERIC Educational Resources Information Center

Rosenblatt, Zehava; Shirom, Arie

2006-01-01

Purpose: The purpose of the study was to examine the extent to which school ethnic affiliation (Jewish vs. Arab) and site-based management affected the absence of teachers and school administrators. Research Design: Background individual and organization-level data on the population of elementary and middle-school teachers (52, 056 teachers at 2,…

The Influence of Culture and Attitudes on Reading Comprehension in SL: The Case of Jews Learning English and Arabs Learning Hebrew.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1996-01-01

Investigates attitudes and cultural background of Israeli Arab students learning Hebrew and Israeli Jewish students learning English to reading comprehension in familiar/unfamiliar cultural stories. Compares contexts: Arabs as minority group learning the majority language and Jews as majority group learning a minority language. Indicates that…

Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients

PubMed Central

Vig, Hetal S.; McCarthy, Anne Marie; Liao, Kaijun; Demeter, Mirar Bristol; Fredericks, Tracey; Armstrong, Katrina

2013-01-01

Background Standard BRCA genetic testing criteria include young age of diagnosis, family history, and Jewish ancestry. The purpose of this study was to assess the effect of these criteria on BRCA test utilization in breast cancer patients. Methods Breast cancer patients aged 18-64yrs living in Pennsylvania in 2007 completed a survey on family history of breast and ovarian cancer and BRCA testing (N=2213). Multivariate logistic regression was used to estimate odds of BRCA testing by patient characteristics, and predicted probabilities of testing were calculated for several clinical scenarios. Results Young age at diagnosis (<50 yrs.) was strongly associated with BRCA testing, with women diagnosed before age 50 yrs. having nearly five times the odds of receiving BRCA testing compared to women diagnosed at age 50 or older (OR=4.81, 95% CI: 3.85-6.00, p<0.001). Despite a similar BRCA mutation prevalence estimate (8-10%), a young Jewish patient <50 yrs. with no family history had markedly higher predicted probability of testing (63%) compared with an older, non-Jewish breast cancer patient with more than 1 first degree relative (FDR) (43%). Conclusion Age at diagnosis, Jewish ancestry, and both maternal and paternal family history are strongly predictive of BRCA testing. However, among women diagnosed at age 50 or older, family history may be an underutilized criterion that may benefit from targeted intervention. Impact Robust methods specific to ascertaining detailed family history, such as through electronic medical records (EMR), are needed to accurately identify patients for BRCA testing. PMID:23917453

Illegal Drug Use in Orthodox Jewish Adolescents.

PubMed

Fogel, Joshua

2004-01-01

Orthodox Jewish adolescents are increasingly seeking stimulation with illegal drugs. Eleven Orthodox Jewish adolescents were surveyed with semi-structured interviews on the Orthodox Jewish cultural aspects of their illegal drug use. Adolescents had mixed beliefs about religious teachings affecting their illegal drug use. No consistent pattern existed for particular ethnic aspects of Orthodox Jewish religious practice as a risk factor for illegal drug use. Language used to describe illegal drug use in this population is described. Unlike illegal drug use in secular and non-Jewish adolescents, these adolescents reported very little family discord or poor relationships with their parents.

Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ober, C.; Lester, L.A.; Mott, C.

1992-12-01

The identification of a common mutation, [Delta]F508, in the CFTR gene allowed, for the first time, the detection of cystic fibrosis (CF) carriers in the general population. Further genetic studies revealed >100 additional disease-causing mutations in this gene, few of which occur on >1% of CF chromosomes in any ethnic group. Prior to establishing counseling guidelines and carrier risk assessments, the authors sought to establish the frequencies of the CFTR mutations that are present in CF families living in the Chicago are, a region notable for its ethnic heterogeneity. Their sample included 283 unrelated CF carriers, with the following ethnicmore » composition: 78% non-Ashkenazi Caucasians, 5% Ashkenazi, 9% African-American, 3% Mexican, 0.3% Native American, and 5% mixed ancestry. When a panel of 10 mutations ([Delta]F508, [Delta]I507, G542X, G551D, R553X, S549N, R1162X, W1282X, N1303K, and 1717-1G[r arrow]A) was used, detection rates ranged from 75% in non-Ashkenazi Caucasians to 40% in African-Americans. These data suggest that the goal of screening for 90%-95% of CF mutations may be unrealistic in this and other, similar US populations. 22 refs., 1 tab.« less

[Differences in clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in Jewish and Bedouin patients].

PubMed

Rabaev, Elena; Sagy, Iftach; Zaid, Eed Abu; Nevzorov, Roman; Harman-Boehm, Ilana; Zeller, Lior; Barski, Leonid

2014-01-01

The aim of this study was to compare clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in the Jewish and Bedouin populations. A retrospective analysis was conducted of hospital admissions for diabetic ketoacidosis in adult patients between 2003 and 2010. The clinical and biochemical characteristics and outcomes of diabetic ketoacidosis patients of Jewish origin were compared with those of Bedouin origin. The primary outcome was in-hospital all-cause mortality. The study cohort included 220 consecutive patients for whom the admission diagnosis was diabetic ketoacidosis. The cohort was categorized according to Jewish and Bedouin origin as follows: 177 (80.5%) Jewish and 43 (19.5%) Bedouin patients. The Jewish patients were significantly older than the Bedouin patients (45.8 +/- 18.9 vs. 32.9 +/- 15.3, p < 0.001). The majority of the patients with diabetic ketoacidosis in both the Jewish and Bedouin groups had type 1 diabetes mellitus. No differences were found for in-hospital mortality, 30 days mortality or complication rates in groups of Jewish and Bedouin patients. The Length of hospital stay was significantly Longer in the Jewish compared to the Bedouin groups of patients (median 4 days (IQR 2; 6 days) vs. median 3 days (IQR 2; 4 days) respectively, p = 0.05). We did not find significant differences in the outcomes between Bedouin and Jewish patients with diabetic ketoacidosis. The Bedouin patients in the present study were younger compared to Jewish patients and the Length of the hospital stay was shorter in the Bedouin compared to the Jewish group. Advanced age, mechanical ventilation and bed-ridden state were independent predictors of 30-day mortality in both ethnic groups.

Extermination of the Jewish mentally-ill during the Nazi era--the "doubly cursed".

PubMed

Strous, Rael

2008-01-01

In Nazi Germany, physicians initiated a program of sterilization and euthanasia directed at the mentally-ill and physically disabled. Relatively little is known regarding the fate of the Jewish mentally-ill. Jewish mentally-ill were definitely included and targeted and were among the first who fell victim. They were systematically murdered following transfer as a specialized group, as well as killed in the general euthanasia program along with non-Jewish mentally ill. Their murder constituted an important link between euthanasia and the Final Solution. The targeting of the Jewish mentally-ill was comprised of four processes including public assistance withdrawal, hospital treatment limitations, sterilization and murder. Jewish "patients" became indiscriminate victims not only on the basis of psychiatric diagnosis, but also on the basis of race. The killing was efficiently coordinated with assembly in collection centers prior to being transferred to their deaths. The process included deceiving Jewish patients' family members and caregivers in order to extract financial support long after patients had been killed. Jewish patients were targeted since they were helpless and considered the embodiment of evil. Since nobody stood up for the Jews, the Nazis could treat the Jewish patients as they saw fit. Several differences existed between euthanasia of Jews and non-Jews, among which the Jewish mentally-ill were killed regardless of work ability, hospitalization length or illness severity. Furthermore, there was discrimination in the process leading up to killing (overcrowding, less food). For the Nazis, Jewish mentally-ill patients were unique among victims in that they embodied both "hazardous genes" and "racial toxins." For many years there has been silence relating to the fate of the Jewish mentally-ill. This deserves to be corrected.

Caregiving and Ethnicity.

ERIC Educational Resources Information Center

Glicksman, Allen

This research examined the relationship between ethnicity and the psychological status and behavior of Jewish and non-Jewish caregivers in relation to the impaired elderly. It was hypothesized that Jewish caregivers would make significantly more use of formal services than non-Jewish (usually Christian) caregivers. Two separate data sets were…

Bioethics for clinicians: 22. Jewish bioethics

PubMed Central

Goldsand, Gary; Rosenberg, Zahava R.S.; Gordon, Michael

2001-01-01

Jewish bioethics in the contemporary era emerges from the traditional practice of applying principles of Jewish law (Halacha) to ethical dilemmas. The Bible (written law) and the Talmud (oral law) are the foundational texts on which such deliberations are based. Interpretation of passages in these texts attempts to identify the duties of physicians, patients and families faced with difficult health care decisions. Although Jewish law is an integral consideration of religiously observant Jews, secularized Jewish patients often welcome the wisdom of their tradition when considering treatment options. Jewish bioethics exemplifies how an ethical system based on duties may differ from the secular rights-based model prevalent in North American society. PMID:11332319

Israel: Background and U.S. Relations

DTIC Science & Technology

2012-02-29

security goals and have developed close relations based on common perceptions of shared democratic values and religious affinities. U.S. policymakers...and Christian religious claims in the city. Although Israel withdrew its permanent military presence from the Gaza Strip in 2005, it still controls...trends partly explain why Israel’s current Jewish population is “more nationalistic, religiously conservative, and hawkish on foreign policy and

Different But Similar: Student Teachers' Perspectives on the Use of L1 in Arab and Jewish EFL Classroom Settings

ERIC Educational Resources Information Center

Orland-Barak, Lily; Yinon, Hayuta

2005-01-01

The complex cultural mosaic of EFL teaching and teacher education in Israel calls for the need to explore how different ethnic and cultural backgrounds shape prospective EFL teachers' perspectives about their roles and practices as communicative teachers; an approach solidly entrenched in western, democratic views of teaching and learning.…

The Sephardic Revival in the United States: A Case of Ethnic Revival in a Minority Within a Minority

ERIC Educational Resources Information Center

Lavender, Abraham D.

1975-01-01

Gives a brief background of the group, reviews some recent events which suggest a revival in several areas of concern to the group, examines some sociological reasons for this revival, suggests the importance of this revival and suggests that the total Jewish community can gain from the revival. (Author/AM)

Multicultural and Problematic Social Contexts and Their Contribution to L2 Learning.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1995-01-01

Studies the relationship of attitudes and cultural background to reading comprehension in a second language (L2) of students in three different social contexts: Israeli-Arab students learning Hebrew as their L2, Israeli-Jewish students learning English as their L2, and Canadian-Arab students learning English as their L2. Results showed that the…

Conceptualizing death in a worldview consistent, meaningful way and its effects on worldview defense.

PubMed

Rogers, Ross

2011-02-01

Research within terror management theory (TMT) has shown that when mortality is made salient, people subsequently engage in worldview defense: an increase in derogation of an individual who does not share their worldview along with an increase in veneration of an individual who does. Research has also shown that high levels of self-esteem (either dispositionally possessed or artificially enhanced) or legitimization of one's meaning supplying system (worldview) can attenuate the increase in worldview defense typically seen after mortality salience. Extending these findings, this research examined the hypothesis that motivating participants to consider their mortality in a manner that was personally meaningful and thus consistent with their particular worldview would also serve to assuage the need for worldview defense. The research reported below supported this reasoning. Specifically, participants with a Christian religious background who were given the typical mortality salience prime produced more positive evaluations of a Christian target and more negative evaluations of a Jewish target. However, participants with a Christian religious background who were presented with a meaningful mortality salience induction produced evaluations of the Christian and Jewish targets that did not differ. The implications of conceptualizing death meaningfully are discussed.

Ethnicity versus migration: two hypotheses about the psychosocial adjustment of immigrant adolescents.

PubMed

Slonim-Nevo, Vered; Sharaga, Yana; Mirsky, Julia; Petrovsky, Vadim; Borodenko, Marina

2006-01-01

STUDY BACKGROUND AND AIMS: This study investigates the psychosocial adjustment of immigrant adolescents and examines two hypotheses: the ethnicity hypothesis, which suggests that ethnic background determines the psychosocial reactions of immigrant adolescents; and the migration hypothesis, which suggests that the migration experience determines such reactions. The study compared four groups of respondents: first-generation immigrants (N = 63) and second-generation immigrants (N = 64) from the former Soviet Union (FSU) in Israel; and Jewish (N = 212) and non-Jewish (N = 184) adolescents in the FSU. A self-report questionnaire administered to the respondents collected demographic, educational and psychological data using standardised scales. Immigrant adolescents reported higher psychological distress, lower self-esteem and higher alchohol consumption than non-immigrant adolescents. Second-generation immigrants generally showed a higher level of functioning than first-generation immigrants. These findings favor the migration hypothesis. Our findings support the widely accepted view of migration as a potentially distress-provoking experience. They suggest that psychological reactions of immigrant adolescents, and in fact all immigrants, are best interpreted as reactive and are related to the universal stressful qualities of the migration experience. Further multiethnic comparative studies, however, are needed to confirm and refine these findings.

Considering the Informal Jewish Educator

ERIC Educational Resources Information Center

Winer, Laura Novak

2007-01-01

Informal Jewish education can and must put greater focus on the goals of education. While socialization is a key component, it is not its sole goal. Informal Jewish education must make more central deep, serious Jewish learning in which learners can experience moments of transcendence, connection, and transformation. A key to reaching this goal…

Quantifying Human Terrain

DTIC Science & Technology

2008-06-01

have knowledge of host populations: social structure (ethnic groups, tribes, elite networks, institutions, organizations and the relationships...from asking a question on religious affiliation on a mandatory basis. 4 United Jewish Appeal--Federation of Jewish Philanthropies of New York, The...to complications. At a scale of 5 United Jewish Appeal--Federation of Jewish Philanthropies of New

Trude Weiss-Rosmarin: Rebel with a Cause.

ERIC Educational Resources Information Center

Reed, Barbara Straus

1995-01-01

Profiles Trude Weiss-Rosmarin, a German-Jewish immigrant to America who, in 1935, published an independent magazine of Jewish ideas. Notes that the periodical focused on Jewish survival in an assimilationist milieu and the role of Jewish women. States that Weiss-Rosmarin lectured frequently, attracted important readers, and contributed…

75 FR 25099 - Jewish American Heritage Month, 2010

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-07

... 8513 of April 30, 2010 Jewish American Heritage Month, 2010 By the President of the United States of... also maintained their own unique identity. During Jewish American Heritage Month we celebrate this... Jewish American Heritage Month. I call upon all Americans to observe this month with appropriate programs...

"Language," "Literature," and the Challenge of the University

ERIC Educational Resources Information Center

Eisen, Arnold M.

2014-01-01

Based on the author's great privilege to have known Mike Rosenak over many years as a conversation partner on issues of Jewish though, Jewish education, and the contemporary Jewish situation, he presents an issue of current concern in the philosophy of Jewish education and considers the response that Rosenak might offer. Directly and…

Gender Role Socialization in Jewish Men.

ERIC Educational Resources Information Center

Lasser, Jon; Gottlieb, Michael C.

There has been little empirical research on the gender role socialization of Jewish men. This paper explores Jewish male gender role socialization and provides a model by which gender and ethnicity may be studied. A description of the gender role socialization of Jewish men, with an emphasis on advantages and disadvantages of such socialization…

Contributing Factors to Teacher Satisfaction for Jewish Day School Educators

ERIC Educational Resources Information Center

Lanner, Malka

2010-01-01

At a time of rising concern for hiring and retaining qualified Jewish educators, this study looked at factors contributing to the decision to enter or remain in the field of Jewish education. If Jewish day school administrators can determine what characteristics attract and retain qualified teachers then perhaps they can mitigate the current…

Development of an Ethnic Self-Definition: The Ethnic Self-Concept "Jew" among Israeli Children.

ERIC Educational Resources Information Center

Dor-Shav, Zecharia

1990-01-01

Used a Jewish Rating Scale and Piagetian scale to investigate the influence of intellectual growth on ethnic self-definition and the meaning of Jewishness to Jewish children in Israel. Found a high positive correlation between children's age and the mode of their definition of their Jewishness. (Author/BB)

The contribution of internal resources, external resources, and emotional distress to use of drugs and alcohol among Israeli Jewish urban adolescents.

PubMed

Lipschitz-Elhawi, Racheli; Itzhaky, Haya

2014-03-01

The contribution of selected background variables (age, gender), internal resources (mastery, emotional maturity), external resources (parental and peer support), and emotional distress to alcohol and drug use among 160 Israeli Jewish urban high school students were examined. Analyzing the variables with hierarchical regression, emotional distress contributed most significantly to both alcohol and drug use, and the contribution of age was somewhat less significant for both of them. Emotional distress also contributed indirectly to drug use through an interaction with one's sense of mastery. Gender, internal resources, and external resources contributed differentially to alcohol and drug use. Whereas gender and internal resources contributed only to drug use, external resources contributed only to alcohol use. Specifically, peer support contributed positively to alcohol use whereas parental support contributed negatively. The discussion provides explanations for these research findings and their implications, and the research's limitations are noted.

Role of Academic Self-efficacy and Social Support on Nursing Students' Test Anxiety.

PubMed

Warshawski, Sigalit; Bar-Lev, Oshra; Barnoy, Sivia

2018-05-25

Associations between test anxiety, academic self-efficacy (ASE), and social support through social media have not been fully explored. The purposes were to explore associations between test anxiety, ASE, and social support from social media and to examine differences in test anxiety by students' year of studies and cultural background. This study used a cross-sectional, descriptive design. The sample comprised first- and fourth-year nursing students (n = 240) attending a baccalaureate nursing program in Israel. Higher ASE and support through social media were related to lower test anxiety. Fourth-year students and Jewish students had higher ASE than first-year and Arab students, who received more support on social media than Jewish students. Developing learning strategies designed to increase students' ASE and reduce test anxiety is warranted. Social media as an educational tool can be adopted for this purpose.

[The living conditions of Jewish physicians in Frankfort on Main in the late Middle Ages and Early Modern Times].

PubMed

Treue, W

1998-01-01

During almost the entire period covered in this article (ca. 1345-1745), the living conditions of Jewish physicians in the Free Imperial City of Frankfort on Main depended to a large extent on the attitudes of the Town Council. The Council, with its increasingly absolutist conception of government, supervised Jewish doctors very closely; on the other hand, it also protected them against the recurrent attacks of Christian physicians, pharmacists and clergymen. The Council understood the importance of the Jewish community to the city's economy, and the contribution of Jewish physicians to the welfare of the city and the neighboring principalities. Until the late 15th century, Jewish medical students were not admitted to European universities; the unique exception was Padua. Hence, arguments against Jewish physicians revolved around their lack of academic qualifications. Such claims were weakened at the end of the 16th century, when the first Jewish graduates from Padua University arrived in Frankfort. The opening of Western European universities in the 17th and 18th centuries enabled increasing numbers of Jews to obtain academic training. The medical profession had become a tradition in many Jewish families, beginning in the Middle Ages; and this tradition was now reinforced and complemented by academic credentials.

Gender Differences in Mathematics among Jewish and Arab Youth in Israel.

ERIC Educational Resources Information Center

Mittelberg, David; Ari, Lilach Lev

1997-01-01

Discusses gender differences in mathematics among Jewish and Arab youth in Israel by presenting research done in four Jewish and two Israeli Arab coeducational schools. Examines the factors that have influenced the degree to which high school students in the Jewish and Arab sectors anticipate making use of mathematically based professions in the…

Problems and Prospects of Jewish Education for Intelligent Citizenship in a Post-Everything World

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2013-01-01

Judaism, Jewish life, the Jewish people--indeed, almost all facets of the Jewish experience--are in a postmodern, post-denominational, post-ethnic, post-Zionist, post-diaspora, or what may simply be called a "post-everything" age. Studies show that post-everything youth in general are less concerned with national/ethnic/religious identification…

Practitioners and Practices in Museum Education: The Case of Three Jewish Museums

ERIC Educational Resources Information Center

Moghadam, Yaara Shteinhart

2011-01-01

As Jewish museums are witnessing a rapid numerical rise in the United States and beyond, the professional and academic literature on Jewish museum education lags behind. This dissertation is aimed to help narrow this gap by examining how the education departments of Jewish museums in the United States conceptualize, promote, and conduct programs…

The fate of Hungarian Jewish dermatologists during the Holocaust Part 1: Six refugees who fled.

PubMed

Burgdorf, Walter H C; Bock, Julia; Hoenig, Leonard J; Parish, Lawrence Charles

2016-01-01

From the times of Moritz Kaposi, Hungarian Jewish physicians have significantly contributed to the development of dermatology. Part 1 of this special report highlights some of the early Jewish dermatologists in Hungary. It also tells the stories of five Hungarian Jewish dermatologists who fled anti-Semitism in Hungary, or other European countries, between 1920 and 1941: Frederick Reiss, Emery Kocsard, Stephen Rothman, Peter Flesch, and George Csonka. A sixth Hungarian dermatologist, Tibor Benedek, was persecuted by the Nazis, because he had a Jewish wife, forcing the couple to flee Germany. Part 2 will focus on the ordeal faced by Hungarian Jewish dermatologists who did not leave their homeland during World War II. Copyright © 2016 Elsevier Inc. All rights reserved.

Association of Family History of Exceptional Longevity With Decline in Physical Function in Aging.

PubMed

Ayers, Emmeline; Barzilai, Nir; Crandall, Jill P; Milman, Sofiya; Verghese, Joe

2017-11-09

Although many genetic and nongenetic factors interact to determine an individual's physical phenotype, there has been limited examination of the contribution of family history of exceptional parental longevity on decline in physical function in aging. The LonGenity study recruited a relatively genetically homogenous cohort of Ashkenazi Jewish adults age 65 and older, who were defined as either offspring of parents with exceptional longevity ([OPEL]: having at least one parent who lived to age 95 or older) or offspring of parents with usual survival ([OPUS]: neither parent survived to age 95). Decline in performance on objective measures of strength (grip strength), balance (unipedal stance), and mobility (gait speed) as well as a composite physical function measure, the Short physical performance battery (SPPB), were compared between the two groups over a median follow-up of 3.2 years, accounting for age, sex, education, and comorbidities. Of the 984 LonGenity participants (mean age 76, 55% women), 448 were OPEL and 536 were OPUS. Compared to OPUS, OPEL had slower decline on measures of unipedal stance (-0.03 log-units/year, p = .026), repeated chair rise (0.13 s/year, p = .020) and SPPB (-0.11 points/year, p = .002). OPEL women had slower decline on chair rise and SPPB scores compared to OPUS women, although OPEL men had slower decline on unipedal stance compared to OPUS men. Our findings provide evidence that variation in late-life decline in physical function is associated with familial longevity, and may vary for men and women. © The Author 2017. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Genetic analysis of mitochondrial DNA control region variations in four tribes of Khyber Pakhtunkhwa, Pakistan.

PubMed

Bhatti, Shahzad; Aslamkhan, M; Abbas, Sana; Attimonelli, Marcella; Aydin, Hikmet Hakan; de Souza, Erica Martinha Silva

2017-09-01

Due to its geo strategic position at the crossroad of Asia, Pakistan has gained crucial importance of playing its pivotal role in subsequent human migratory events, both prehistoric and historic. This human movement became possible through an ancient overland network of trails called "The Silk Route" linking Asia Minor, Middle East China, Central Asia and Southeast Asia. This study was conducted to analyze complete mitochondrial control region samples of 100 individuals of four major Pashtun tribes namely, Bangash, Khattak, Mahsuds and Orakzai in the province of Khyber Pakhtunkhwa, Pakistan. All Pashtun tribes revealed high genetic diversity which is comparable to the other Central Asian, Southeast Asian and European populations. The configuration of genetic variation and heterogeneity further unveiled through Multidimensional Scaling, Principal Component Analysis and phylogenetic analysis. The results revealed that Pashtun are the composite mosaic of West Eurasian ancestry of numerous geographic origin. They received substantial gene flow during different invasive movements and have a high element of the Western provenance. The most common haplogroups reported in this study are: South Asian haplogroups M (28%) and R (8%); whereas, West Asians haplogroups are present, albeit in high frequencies (67%) and widespread over all; HV (15%), U (17%), H (9%), J (8%), K (8%), W (4%), N (3%) and T (3%). Moreover, we linked the unexplored genetic connection between Ashkenazi Jews and Pashtun. The presence of specific haplotypes J1b (4%) and K1a1b1a (5%) pointed to a genetic connection of Jewish conglomeration in Khattak tribe. This was a result of an ancient genetic influx in the early Neolithic period that led to the formation of a diverse genetic substratum in present day Pashtun.

Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PubMed

Perreault-Micale, Cynthia; Frieden, Alexander; Kennedy, Caleb J; Neitzel, Dana; Sullivan, Jessica; Faulkner, Nicole; Hallam, Stephanie; Greger, Valerie

2014-11-01

Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an increased incidence of Usher syndrome type 1F (founder variant p.Arg245X accounts for 75% of alleles), yet the variant spectrum in a panethnic population remains undetermined. We sequenced the coding region and intron-exon borders of PCDH15 using next-generation DNA sequencing technology in approximately 14,000 patients from fertility clinics. More than 600 unique PCDH15 variants (single nucleotide changes and small indels) were identified, including previously described pathogenic variants p.Arg3X, p.Arg245X (five patients), p.Arg643X, p.Arg929X, and p.Arg1106X. Novel truncating variants were also found, including one in the N-terminal extracellular domain (p.Leu877X), but all other novel truncating variants clustered in the exon 33 encoded C-terminal cytoplasmic domain (52 patients, 14 variants). One variant was observed predominantly in African Americans (carrier frequency of 2.3%). The high incidence of truncating exon 33 variants indicates that they are unlikely to cause Usher syndrome type 1F even though many remove a large portion of the gene. They may be tolerated because PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly. Effects of some PCDH15 truncating variants were addressed by deep sequencing of a panethnic population. Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.

PubMed

Schwartz, Ida Vanessa D; Göker-Alpan, Özlem; Kishnani, Priya S; Zimran, Ari; Renault, Lydie; Panahloo, Zoya; Deegan, Patrick

2018-03-01

The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3. The majority of patients with GD3 were from the US (13; 50.0%), seven (26.9%) were from the UK, three (11.5%) from Israel, and three (11.5%) from Brazil. No patients were of Ashkenazi Jewish origin. Median age of symptom onset was 1.4 (interquartile range: 0.5-2.0) years. The most common GBA1 mutation genotype was L444P/L444P, occurring in 16 (69.6%) of 23 patients who had genotyping information available. Nine patients reported a family history of GD (any type). Of 21 patients with treatment status information, 20 (95.2%) had received GD-specific treatment at any time, primarily imiglucerase (14 patients) and/or velaglucerase alfa (13 patients). Hemoglobin concentrations and platelet counts at GOS entry were within normal ranges for most patients, and there were no reports of severe hepatomegaly or of splenomegaly in non-splenectomized patients, most likely indicative of the effects of treatment received prior to GOS entry. This analysis provides information on the characteristics of patients with GD3 that could be used as the baseline for longitudinal follow-up of these patients.

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

PubMed Central

Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez‐Sasso, Diego; Giraldo, Pilar; Goker‐Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D.

2017-01-01

Abstract The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long‐term effectiveness of velaglucerase alfa and other GD‐related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype‐confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD‐specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease. PMID:29090476

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

PubMed

Zimran, Ari; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez-Sasso, Diego; Giraldo, Pilar; Goker-Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D

2018-02-01

The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long-term effectiveness of velaglucerase alfa and other GD-related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype-confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD-specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease. © 2017 The Authors American Journal of Hematology Published by Wiley Periodicals, Inc.

Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

PubMed Central

Huo, Dezheng; Senie, Ruby T.; Daly, Mary; Buys, Saundra S.; Cummings, Shelly; Ogutha, Jacqueline; Hope, Kisha; Olopade, Olufunmilayo I.

2009-01-01

Purpose BRCAPRO, a BRCA mutation carrier prediction model, was developed on the basis of studies in individuals of Ashkenazi Jewish and European ancestry. We evaluated the performance of the BRCAPRO model among clinic-based minority families. We also assessed the clinical utility of mutation status of probands (the first individual tested in a family) in the recommendation of BRCA mutation testing for other at-risk family members. Patients and Methods A total of 292 minority families with at least one member who was tested for BRCA mutations were identified through the Breast Cancer Family Registry and the University of Chicago. Using the BRCAPRO model, the predicted likelihood of carrying BRCA mutations was generated. Area under the receiver operating characteristic curves (AUCs) were calculated. Results There were 104 African American, 130 Hispanic, 37 Asian-American, and 21 other minority families. The AUC was 0.748 (95% CI, 0.672 to 0.823) for all minorities combined. There was a statistically nonsignificant trend for BRCAPRO to perform better in Hispanic families than in other minority families. After taking into account the mutation status of probands, BRCAPRO performance in additional tested family members was improved: the AUC increased from 0.760 to 0.902. Conclusion The findings support the use of BRCAPRO in pretest BRCA mutation prediction among minority families in clinical settings, but there is room for improvement in ethnic groups other than Hispanics. Knowledge of the mutation status of the proband provides additional predictive value, which may guide genetic counselors in recommending BRCA testing of additional relatives when a proband has tested negative. PMID:19188678

Genetics of triple-negative breast cancer: Implications for patient care.

PubMed

Afghahi, Anosheh; Telli, Melinda L; Kurian, Allison W

Patients with triple-negative breast cancer (TNBC), defined as lacking expression of the estrogen and progesterone receptors (ER/PR) and amplification of the HER2 oncogene, often have a more aggressive disease course than do patients with hormone receptor-positive breast cancer, including higher rates of visceral and central nervous system metastases, early cancer recurrences and deaths. Triple-negative breast cancer is associated with a young age at diagnosis and both African and Ashkenazi Jewish ancestry, the latter due to three common founder mutations in the highly penetrant cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2). In the past decade, there has been a surge both in genetic testing technology and in patient access to such testing. Advances in genetic testing have enabled more rapid and less expensive commercial sequencing than could be imagined only a few years ago. Massively parallel, next-generation sequencing allows the simultaneous analysis of many different genes. Studies of TNBC patients in the current era have revealed associations of TNBC with mutations in several moderate penetrance breast cancer susceptibility genes, including PALB2, BARD1, BRIP1, RAD51C and RAD51D. Interestingly, many of these genes, like BRCA1/2, are involved in homologous recombination DNA double-stranded repair. In this review, we summarize the current understanding of pathogenic germline gene mutations associated with TNBC and the early detection and prevention strategies for women at risk of developing this high-risk breast cancer subtype. Furthermore, we discuss recent the advances in targeted therapies for TNBC patients with a hereditary predisposition, including the role of poly (ADP-ribose) polymerase (PARP) inhibitors in BRCA1/2 mutation-associated breast cancers. Copyright © 2016 Elsevier Inc. All rights reserved.

Complex interactions of the Eastern and Western Slavic populations with other European groups as revealed by mitochondrial DNA analysis.

PubMed

Grzybowski, Tomasz; Malyarchuk, Boris A; Derenko, Miroslava V; Perkova, Maria A; Bednarek, Jarosław; Woźniak, Marcin

2007-06-01

Mitochondrial DNA sequence variation was examined by the control region sequencing (HVS I and HVS II) and RFLP analysis of haplogroup-diagnostic coding region sites in 570 individuals from four regional populations of Poles and two Russian groups from northwestern part of the country. Additionally, sequences of complete mitochondrial genomes representing K1a1b1a subclade in Polish and Polish Roma populations have been determined. Haplogroup frequency patterns revealed in Poles and Russians are similar to those characteristic of other Europeans. However, there are several features of Slavic mtDNA pools seen on the level of regional populations which are helpful in the understanding of complex interactions of the Eastern and Western Slavic populations with other European groups. One of the most important is the presence of subhaplogroups U5b1b1, D5, Z1 and U8a with simultaneous scarcity of haplogroup K in populations of northwestern Russia suggesting the participation of Finno-Ugrian tribes in the formation of mtDNA pools of Russians from this region. The results of genetic structure analyses suggest that Russians from Velikii Novgorod area (northwestern Russia) and Poles from Suwalszczyzna (northeastern Poland) differ from all remaining Polish and Russian samples. Simultaneously, northwestern Russians and northeastern Poles bear some similarities to Baltic (Latvians) and Finno-Ugrian groups (Estonians) of northeastern Europe, especially on the level of U5 haplogroup frequencies. The occurrence of K1a1b1a subcluster in Poles and Polish Roma is one of the first direct proofs of the presence of Ashkenazi-specific mtDNA lineages in non-Jewish European populations.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

PubMed

Zhang, Jinglan; Lachance, Véronik; Schaffner, Adam; Li, Xianting; Fedick, Anastasia; Kaye, Lauren E; Liao, Jun; Rosenfeld, Jill; Yachelevich, Naomi; Chu, Mary-Lynn; Mitchell, Wendy G; Boles, Richard G; Moran, Ellen; Tokita, Mari; Gorman, Elizabeth; Bagley, Kaytee; Zhang, Wei; Xia, Fan; Leduc, Magalie; Yang, Yaping; Eng, Christine; Wong, Lee-Jun; Schiffmann, Raphael; Diaz, George A; Kornreich, Ruth; Thummel, Ryan; Wasserstein, Melissa; Yue, Zhenyu; Edelmann, Lisa

2016-04-01

Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ) families. All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. The carrier frequency of the VPS11: c.2536T>G variant is 1:250 in the AJ population (n = 2,026). VPS11 protein is a core component of HOPS (homotypic fusion and protein sorting) and CORVET (class C core vacuole/endosome tethering) protein complexes involved in membrane trafficking and fusion of the lysosomes and endosomes. The cysteine 846 resides in an evolutionarily conserved cysteine-rich RING-H2 domain in carboxyl terminal regions of VPS11 proteins. Our data shows that the C846G mutation causes aberrant ubiquitination and accelerated turnover of VPS11 protein as well as compromised VPS11-VPS18 complex assembly, suggesting a loss of function in the mutant protein. Reduced VPS11 expression leads to an impaired autophagic activity in human cells. Importantly, zebrafish harboring a vps11 mutation with truncated RING-H2 domain demonstrated a significant reduction in CNS myelination following extensive neuronal death in the hindbrain and midbrain. Thus, our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway.

Sephardic signature in haplogroup T mitochondrial DNA

PubMed Central

Bedford, Felice L

2012-01-01

A rare combination of mutations within mitochondrial DNA subhaplogroup T2e is identified as affiliated with Sephardic Jews, a group that has received relatively little attention. Four investigations were pursued: Search of the motif in 250 000 control region records across 8 databases, comparison of frequencies of T subhaplogroups (T1, T2b, T2c, T2e, T4, T*) across 11 diverse populations, creation of a phylogenic median-joining network from public T2e control region entries, and analysis of one Sephardic mitochondrial full genomic sequence with the motif. It was found that the rare motif belonged only to Sephardic descendents (Turkey, Bulgaria), to inhabitants of North American regions known for secret Spanish–Jewish colonization, or were consistent with Sephardic ancestry. The incidence of subhaplogroup T2e decreased from the Western Arabian Peninsula to Italy to Spain and into Western Europe. The ratio of sister subhaplogroups T2e to T2b was found to vary 40-fold across populations from a low in the British Isles to a high in Saudi Arabia with the ratio in Sephardim more similar to Saudi Arabia, Egypt, and Italy than to hosts Spain and Portugal. Coding region mutations of 2308G and 14499T may locate the Sephardic signature within T2e, but additional samples and reworking of current T2e phylogenetic branch structure is needed. The Sephardic Turkish community has a less pronounced founder effect than some Ashkenazi groups considered singly (eg, Polish), but other comparisons of interest await comparable averaging. Registries of signatures will benefit the study of populations with a large number of smaller-size founders. PMID:22108605

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2

PubMed Central

Gabai-Kapara, Efrat; Lahad, Amnon; Kaufman, Bella; Friedman, Eitan; Segev, Shlomo; Renbaum, Paul; Beeri, Rachel; Gal, Moran; Grinshpun-Cohen, Julia; Djemal, Karen; Mandell, Jessica B.; Lee, Ming K.; Beller, Uziel; Catane, Raphael; King, Mary-Claire; Levy-Lahad, Ephrat

2014-01-01

In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2. For carriers of these mutations, risk-reducing salpingo-oophorectomy significantly reduces morbidity and mortality. Population screening for these mutations among AJ women may be justifiable if accurate estimates of cancer risk for mutation carriers can be obtained. We therefore undertook to determine risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained irrespective of personal or family history of cancer. Families harboring mutations in BRCA1 or BRCA2 were ascertained by identifying mutation carriers among healthy AJ males recruited from health screening centers and outpatient clinics. Female relatives of the carriers were then enrolled and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 0.60 (± 0.07) and 0.83 (± 0.07) for BRCA1 carriers and 0.33 (± 0.09) and 0.76 (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts (P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who are not evaluated by genetic testing based on family history criteria. Such a program could serve as a model to investigate implementation and outcomes of population screening for genetic predisposition to cancer in other populations. PMID:25192939

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

PubMed

Novak, David J; Chen, Long Qi; Ghadirian, Parviz; Hamel, Nancy; Zhang, Phil; Rossiny, Vanessa; Cardinal, Guy; Robidoux, André; Tonin, Patricia N; Rousseau, Francois; Narod, Steven A; Foulkes, William D

2008-08-15

BRCA1 and BRCA2 account for the majority of the known familial breast cancer risk, however, the impact of other cancer susceptibility genes largely remains to be elucidated. Checkpoint Kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects have been associated with an increase in breast cancer risk. Previous studies have identified low penetrance CHEK2 alleles such as 1100delC and I157T, as well as variants such as S428F in the Ashkenazi Jewish population and IVS2 + 1G>A in the Polish population. No founder allele has been specifically identified in the French Canadian population. The 14 coding exons of CHEK2 were fully sequenced for variant alleles in a panel of 25 affected French Canadian women and 25 healthy controls. Two variants were identified of which one novel variant was further screened for in an additional panel of 667 breast cancer patients and 6548 healthy controls. Additional genotyping was conducted using allele specific PCR and a restriction digest assay. Significance of amino acid substitutions were deduced by employing comparative analysis techniques. Two variants were identified: the previously reported silent substitution 252A>G (E84E) and the novel missense variant, 1217G>A (R406H). No significant difference in allele distribution between French Canadian women with breast cancer and healthy controls was observed (3/692, 0.43% vs. 22/6573, 0.33%, respectively, P = 0.73). The novel CHEK2 missense variant identified in this study, R406H, is unlikely to contribute to breast cancer risk in French Canadian women.

Effect of Exceptional Parental Longevity and Lifestyle Factors on Prevalence of Cardiovascular Disease in Offspring.

PubMed

Gubbi, Sriram; Schwartz, Elianna; Crandall, Jill; Verghese, Joe; Holtzer, Roee; Atzmon, Gil; Braunstein, Rebecca; Barzilai, Nir; Milman, Sofiya

2017-12-15

Offspring of parents with exceptional longevity (OPEL) manifest lower prevalence of cardiovascular disease (CVD), but the role of lifestyle factors in this unique cohort is not known. Our study tested whether OPEL have lesser prevalence of CVD independent of lifestyle factors. Prevalence of CVD and CVD risk factors was assessed in a population of community-dwelling Ashkenazi Jewish adults aged 65 to 94 years. Participants included OPEL (n = 395), defined as having at least 1 parent living past the age of 95 years, and offspring of parents with usual survival (OPUS, n = 450), defined as having neither parent survive to 95 years. Medical and lifestyle information was obtained using standardized questionnaires. Socioeconomic status was defined based on validated classification scores. Dietary intake was evaluated with the Block Brief Food Frequency Questionnaire (2000) in a subgroup of the study population (n = 234). Our study found no significant differences in the prevalence of obesity, smoking, alcohol use, physical activity, social strata scores, and dietary intake between the 2 groups. After adjustment for age and gender, the OPEL demonstrated 29% lower odds of having hypertension (95% confidence interval [CI] 0.53 to 0.95), 65% lower odds of having had a stroke (95% CI 0.14 to 0.88), and 35% lower odds of having CVD (95% CI 0.43 to 0.98), compared with OPUS. In conclusion, exceptional parental longevity is associated with lower prevalence of CVD independent of lifestyle, socioeconomic status, and nutrition, thus highlighting the potential role of genetics in disease-free survival among individuals with exceptional parental longevity. Copyright © 2017 Elsevier Inc. All rights reserved.

Lifestyle factors of people with exceptional longevity.

PubMed

Rajpathak, Swapnil N; Liu, Yingheng; Ben-David, Orit; Reddy, Saritha; Atzmon, Gil; Crandall, Jill; Barzilai, Nir

2011-08-01

To assess lifestyle factors including physical activity, smoking, alcohol consumption, and dietary habits in men and women with exceptional longevity. Retrospective cohort study. A cohort of community-dwelling Ashkenazi Jewish individuals with exceptional longevity defined as survival and living independently at age 95 and older. Four hundred seventy-seven individuals (mean 97.3 ± 2.8, range 95-109; 74.6% women) and a subset of participants of the National Health and Nutrition Examination Survey (NHANES) I (n = 3,164) representing the same birth cohort as a comparison group. A trained interviewer administrated study questionnaires to collect information on lifestyle factors and collected data on anthropometry. People with exceptional longevity had similar mean body mass index (men, 25.4 ± 2.8 kg/m² vs 25.6 ± 4.0 kg/m² , P=.63; women, 25.0 ± 3.5 kg/m² vs 24.9 ± 5.4 kg/m² ; P = .90) and a similar proportion of daily alcohol consumption (men, 23.9 vs 22.4, P = .77; women, 12.1 vs 11.3, P = .80), of regular physical activity (men: 43.1 vs 57.2; P = .07; women: 47.0 vs 44.1, P = .76), and of a low-calorie diet (men: 20.8 vs 21.1, P=.32; women: 27.3 vs 27.1, P=.14) as the NHANES I population. People with exceptional longevity are not distinct in terms of lifestyle factors from the general population, suggesting that people with exceptional longevity may interact with environmental factors differently than others. This requires further investigation. © 2011, Copyright the Authors. Journal compilation © 2011, The American Geriatrics Society.

BRCA1 and acetyl-CoA carboxylase: the metabolic syndrome of breast cancer.

PubMed

Brunet, Joan; Vazquez-Martin, Alejandro; Colomer, Ramon; Graña-Suarez, Begoña; Martin-Castillo, Begoña; Menendez, Javier A

2008-02-01

Breast cancer-associated mutations affecting the highly-conserved C-terminal BRCT domains of the tumor suppressor gene breast cancer susceptibility gene 1 (BRCA1) fully disrupt the ability of BRCA1 to interact with acetyl coenzyme A carboxylase alpha (ACCA), the rate-limiting enzyme catalyzing de novo fatty acid biogenesis. Specifically, BRCA1 interacts solely with the phosphorylated (inactive) form of ACCA (P-ACCA), and the formation of the BRCA1/P-ACCA complex interferes with ACCA activity by preventing P-ACCA dephosphorylation. One of the hallmarks of aggressive cancer cells is a high rate of energy-consuming anabolic processes driving the synthesis of lipids, proteins, and DNA (all of which are regulated by the energy status of the cell). The ability of BRCA1 to stabilize the phosphorylated/inactive form of ACCA strongly suggests that the tumor suppressive function of BRCA1 closely depends on its ability to mimic a cellular-low-energy status, which is known to block tumor cell anabolism and suppress the malignant phenotype. Interestingly, physical exercise and lack of obesity in adolescence have been associated with significantly delayed breast cancer onset for Ashkenazi Jewish women carrying BRCA1 gene mutations. Further clinical work may explore a chemopreventative role of "low-energy-mimickers" deactivating the ACCA-driven "lipogenic phenotype" in women with inherited mutations in BRCA1. This goal might be obtained with current therapeutic approaches useful in treating the metabolic syndrome and associated disorders in humans (e.g., type 2 diabetes and obesity), including metformin, thiazolidinediones (TZDs), calorie deprivation, and exercise. Alternatively, new forthcoming ACCA inhibitors may be relevant in the management of BRCA1-dependent breast cancer susceptibility and development. (c) 2007 Wiley-Liss, Inc.

Perception of the Image of Scientist by Israeli Student Teachers from Two Distinct Communities in Israel: Arabs and Jews

ERIC Educational Resources Information Center

Koren, Pazit; Bar, Varda

2009-01-01

This is a comparative study of the image of the scientist held by Israeli Jewish and Arabic student teachers from various backgrounds. The image of female scientists among these groups was also investigated. Five groups of female students (N = 500) from four colleges were studied. Traditional tools (DAST) were combined with more informative…

Jewish Identities in Action: An Exploration of Models, Metaphors, and Methods

ERIC Educational Resources Information Center

Charme, Stuart; Horowitz, Bethamie; Hyman, Tali; Kress, Jeffrey S.

2008-01-01

"Jewish identity" has been a central concern both in the realm of research about American Jewry and to American Jewish educational programming, but what it means and how to best study it have come under question in recent years. In this article, four scholars describe the ways they understand Jewish identity among American Jews and how they study…

Jewish Learning in American Universities: The First Century. The Modern Jewish Experience.

ERIC Educational Resources Information Center

Ritterband, Paul; Wechsler, Harold S.

This book examines the evolution of Jewish studies as an academic discipline within the history and sociology of higher education in the United States from the late 19th century to the present. Chapter 1 discusses the effects of European and American academic history on the late 19th-century appearance of Jewish learning in American universities.…

Beyond Questioning: Inquiry Strategies and Cognitive and Affective Elements of Jewish Education

ERIC Educational Resources Information Center

Sigel, Irving E.; Kress, Jeffrey S.; Elias, Maurice J.

2007-01-01

Questioning-asking has not only long been seen as a central component of Jewish educational practice but has also been thought to be part of a broader culture of Judaism. In this article, we apply cognitive-developmental theories to advance the discussion of the use of questioning in Jewish education. Such theories allow Jewish educators to more…

[Identity and psychoanalysis: particularity and universality of the Jewish question according to Freud].

PubMed

Chemouni, J

1998-11-01

Although he was an atheist, Freud always affirmed his Jewish identity - without religious practice, but within a community commitment. He was proud of his Jewish origin and this helped him to face his hostile scientific environment and to develop his ideas despite the majority against him. What exactly is the role of his Jewish identity in his heritage?

Jewish History Engagement in an Online Simulation: Golda and Coco, Leah and Lou at the Jewish Court of All Time

ERIC Educational Resources Information Center

Katz, Meredith L.; Kress, Jeffrey S.

2018-01-01

This study investigates the Jewish history engagement for middle school students "playing" in the Jewish Court of All Time (JCAT), an online simulation of a current events court case with historical roots (http://jcat.icsmich.org). Through an online platform across several schools, students research and play historical and current…

Is the -174 C/G polymorphism of the IL6 gene associated with elite power performance? A replication study with two different Caucasian cohorts.

PubMed

Eynon, Nir; Ruiz, Jonatan R; Meckel, Yoav; Santiago, Catalina; Fiuza-Luces, Carmen; Gómez-Gallego, Félix; Oliveira, José; Lucia, Alejandro

2011-02-01

A functional -174 C/G polymorphism in the interleukin-6 gene (IL6) is a candidate to explain individual variations in exercise-related phenotypes. To replicate recent findings showing an association between the G allele and GG genotype of elite power sports performance in European (Spanish) Caucasian males, we compared allelic and genotypic frequencies of the IL6 -174 C/G polymorphism among elite endurance athletes (n = 74) and power athletes (n = 81) and non-athletic control subjects (n = 205) of both sexes from Israel. All subjects were Israeli Caucasians (with an equivalent ratio of non-Ashkenazi and Ashkenazi descent in each group; 2:1). We found no differences in the genotype or allele frequencies among groups (all P > 0.3). We further compared the genotype and allele frequencies between national- (n = 109) and international-level Israeli athletes (n = 46) in the endurance and power group, and found no significant genotype or allele differences after adjusting for multiple comparisons. We repeated all the analyses after pooling the Israeli and Spanish control subjects, endurance and power elite athletes, and found no genotypic and allelic differences among groups. The results did not change when the analyses were repeated including only the best Israeli athletes (i.e. the international-level group) together with the group of elite Spanish athletes (P > 0.2). In conclusion, the results of the present study did not show an association between the G allele of the IL6 -174 G/C polymorphism and power sports performance in the Israeli (Caucasian) population. Our findings support the need to replicate association results between genetic polymorphisms and athletic status in populations of different ethnic backgrounds with the largest possible population samples.

Designing a Curriculum Model for the Teaching of the Bible in UK Jewish Secondary Schools: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2012-01-01

This paper describes the process of designing a curriculum model for Bible teaching in UK Jewish secondary schools. This model was designed over the period 2008-2010 by a team of curriculum specialists from the Jewish Curriculum Partnership UK in collaboration with a group of teachers from Jewish secondary schools. The paper first outlines the…

Bagels, Schnitzel and McDonald's--"Fuzzy Frontiers" of Jewish Identity in an English Jewish Secondary School

ERIC Educational Resources Information Center

Scholefield, Lynne

2004-01-01

Using data gathered during a case study of the "culture" of a Jewish secondary school, this article explores the indeterminate boundaries of Jewish identity. By examining the mechanisms that control what and who comes into the school, and what is approved and disapproved of in the school, a picture emerges of what and who is counted as…

Demystifying a Black Box: A Grounded Theory of How Travel Experiences Impact the Jewish Identity Development of Jewish Emerging Adults

ERIC Educational Resources Information Center

Aaron, Scott

2015-01-01

The positive impact on the Jewish Identity Development of Jewish Emerging Adults of both the 10 day trips to Israel popularly known as Birthright trips and the service learning trips commonly known as Alternative Spring Breaks has been well-documented. However, the mechanics of how this positive impact occurs has not been well-understood. This…

Teaching Approaches of Beginning Teachers for Jewish Studies in Israeli "Mamlachti" Schools: A Case Study of a Jewish Education Teachers' Training Program for Outstanding Students

ERIC Educational Resources Information Center

Katzin, Ori

2015-01-01

This article presents findings from a longitudinal qualitative study that examined teaching approaches of neophyte teachers in Israel during their 4-year exclusive teachers' training program for teaching Jewish subjects and first two years of teaching. The program wanted to promote change in secular pupils' attitudes toward Jewish subjects. We…

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

PubMed Central

Nogueiro, Inês; Teixeira, João; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-01-01

The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Bragança district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and — in contrast with Belmonte — a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore — in sharp contrast with Belmonte — these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages. PMID:25074462

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants.

PubMed

Nogueiro, Inês; Teixeira, João; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-05-01

The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Bragança district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and - in contrast with Belmonte - a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore - in sharp contrast with Belmonte - these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages.

The origin of the p.E180 growth hormone receptor gene mutation.

PubMed

Ostrer, Harry

2016-06-01

Laron syndrome, an autosomal recessive condition of extreme short stature, is caused by the absence or dysfunction of the growth hormone receptor. A recurrent mutation in the GHR gene, p.E180, did not alter the encoded amino acid, but activated a cryptic splice acceptor resulting in a receptor protein with an 8-amino acid deletion in the extracellular domain. This mutation has been observed among Sephardic Jews and among individuals in Ecuador, Brazil and Chile, most notably in a large genetic isolate in Loja, Ecuador. A common origin has been postulated based on a shared genetic background of markers flanking this mutation, suggesting that the Lojanos (and others) may have Sephardic (Converso) Jewish ancestry. Analysis of the population structure of Lojanos based on genome-wide analysis demonstrated European, Sephardic Jewish and Native American ancestry in this group. X-autosomal comparison and monoallelic Y chromosomal and mitochondrial genetic analysis demonstrated gender-biased admixture between Native American women and European and Sephardic Jewish men. These findings are compatible with the co-occurrence of the Inquisition and the colonization of the Americas, including Converso Jews escaping the Inquisition in the Iberian Peninsula. Although not found among Lojanos, Converso Jews also brought founder mutations to contemporary Hispanic and Latino populations in the BRCA1 (c.68_69delAG) and BLM (c.2207_2212delATCTGAinsTAGATTC) genes. Copyright © 2015 Elsevier Ltd. All rights reserved.

Education across the Divide: Shared Learning of Separate Jewish and Arab Schools in a Mixed City in Israel

ERIC Educational Resources Information Center

Payes, Shany

2018-01-01

This article examines the impact of contact-based educational encounter strategies of shared learning on Jewish-Arab relations in Israel. It analyses a programme of education for shared life that takes place in a mixed (75% Jewish/25% Arab) city at the centre of Israel since 2012. The programme aims to mitigate Jewish-Arab relations in the city…

Bioethics: secular philosophy, Jewish law and modern medicine.

PubMed

Steinberg, A

1989-07-01

The recent unprecedented expansion of scientific knowledge and the greater awareness and involvement of the public in medical matters, as well as additional causes described here, have impelled the development of a new form of bioethics over the past three decades. Jewish law and philosophy have always dealt with medical issues. In recent years, however, a voluminous body of literature devoted to Jewish medical ethics has developed. It covers all relevant issues and offers Jewish solutions to many complex problems arising from the recent scientific breakthroughs. This article analyzes the differences between Jewish and secular philosophies regarding fundamental moral theories relevant to modern medical ethics.

What Keeps Teachers in and What Drives Them out: How Urban Public, Urban Catholic, and Jewish Day Schools Affect Beginning Teachers' Careers

ERIC Educational Resources Information Center

Tamir, Eran

2013-01-01

Background: Teacher quality plays a key role in student learning outcomes. Yet, data suggest that elite college graduates who enter teaching are less likely to stay in schools serving low income and minority students compared to other teachers. Thus, many educators and policy makers agree that in order to equalize the playing field, recruitment,…

Political and Legal Consciousness of Young People in the Region (a Case Study of Jewish Autonomous Region)

ERIC Educational Resources Information Center

Lutsenko, Ekaterina; Tyurina, Yulia; Korolyova, Irina; Shishmakov, Stanislav; Shishmakov, Vladimir; Nikolaeva, Natalia

2016-01-01

The paper deals with particularities of political and legal consciousness of young people in view of a region against the background of the general standpoint of the Russian citizens and Russian youth in questions of the political and legal spheres. The opinion of the young people and citizens of the country as a whole is evaluated based on the…

Going to America, Going to School: The Immigrant-Public School Encounter in Turn-of-the-Century New York City. (A Work in Progress.)

ERIC Educational Resources Information Center

Brumberg, Stephan F.

This paper explores the effects on both immigrants and schools of the historical encounter between New York City's public schools and East European Jewish immigrants to the city. The immigrants' background, their reasons for migrating, and the lifestyles that emerged from their efforts to adapt to American life are described. The paper examines…

The mass campaign to eradicate ringworm among the Jewish community in Eastern Europe, 1921-1938.

PubMed

Shvarts, Shifra; Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-04-01

Between the years 1921 and 1938, 27,600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment--pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel.

The emigration of Germany's Jewish dermatologists in the period of National Socialism.

PubMed

Eppinger, S; Meurer, M; Scholz, A

2003-09-01

In the context of our investigation, we found information on 432 (76%) of the 569 Jewish dermatologists in Germany. There is evidence that 57 (10%) of the Jewish dermatologists were murdered in concentration camps, 61 (10.7%) died a natural death, 13 (2%) committed suicide, and 25 (4%) survived the Third Reich in Germany. After 1933, 276 (49%) Jewish dermatologists were able to leave Germany; the United States of America was the main destination and 107 (or 41%) emigrated there. A total of 34 (13%) Jewish dermatologists emigrated from Germany to Palestine and 16 to Latin America. Regarding emigration to other European countries, 20 of the Jewish dermatologists from Germany went to Great Britain (including Walter Freudenthal, 1893-1952, and Ernst Sklarz, 1894-1975), and 24 emigrated to other European countries, such as France (Rudolf Mayer, 1895-1962), Sweden (Carl Lennhoff, 1883-1963), and the Netherlands (Otto Schlein, 1895-1944).

The Mass Campaign to Eradicate Ringworm Among the Jewish Community in Eastern Europe, 1921–1938

PubMed Central

Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-01-01

Between the years 1921 and 1938, 27 600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment—pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel. PMID:23409897

Prevalence of ADHD among 7-9-Year-Old Children in Israel. A Comparison between Jewish and Arab Populations.

PubMed

Ornoy, Asher; Ovadia, Moran; Rivkin, Dori; Milshtein, Ellen; Barlev, Lital

2016-01-01

The world prevalence of ADHD ranges between 5-10%. The prevalence in Israel was generally studied from prescriptions of methylphenidate and not from cohorts of children. We assessed the prevalence of ADHD among a cohort of early school age children in the Jewish and Arab populations using DSM-IV criteria and evaluated the difference between teachers' and parental assessment. We also studied in the Jewish population the differences in several social-behavioral parameters between children with and without ADHD. The rate of ADHD among the Jewish children was 9.5% and among the Arab children it was significantly lower - 7.35%. Teachers' evaluation in the Jewish population was 2.3 times higher than parental evaluation but in the Arab population it was closer to that of the parents, being only 12% higher. In addition, there were more regulatory, behavioral and learning problems among the Jewish children with ADHD compared to children without ADHD. The rates of ADHD in school age children among both Jews and Arabs fall within the average rate in other countries. The high difference between teachers' and parental assessment of ADHD in the Jewish population emphasizes that ADHD diagnosis should rely on the joint behavioral assessment of both. The prevalence of ADHD in Jewish early school age children is slightly higher than in Arab children and the inattentive type is the most common. There is a discrepancy between teachers' and parents' evaluation of children's behavior in the Jewish population, but this discrepancy is less in the Arab population.

Jewish College Women: Future Leaders of the Jewish Community?

ERIC Educational Resources Information Center

Lavender, Abraham D.

1977-01-01

It is concluded from this data that the American Jewish community deprives itself of many needed talents to the extent that it does not encourage participation in its leadership positions of all individuals, regardless of sex. (Author/AM)

Ritual encounters of the queer kind: a political analysis of jewish lesbian ritual innovation.

PubMed

Brettschneider, Marla

2003-01-01

SUMMARY Jewish feminist and queer engagement in Jewish life and Judaism are transforming the practices and foundational orientations of traditional modes. Jewish feminist, queer ritual innovation in particular is inspired by an array of secular and radical critical theories as much as it is by the historic concrete experiences of a diversity of Jews in different Jewish communities. It is important to hold all of us who are involved in religious ritual innovation responsible to the knowledges we have developed and learned in critical theory or we risk, even with the best of intentions and creativity, re-inscribing some of the very problems of traditional ontological norms that we might have originally sought to disrupt and subvert. This article looks specifically at examples of new "coming out" rituals for Jewish queers explored over time in the Jewish Queer Think Tank: honoring them as well as offering tools from secular critical theory to assist our work in keeping them accountable to our aspirations to both love and fundamentally transform Jewishness. Here I redefine the function of religious ritual itself in political terms as an identity-producing performance. As such I utilize social constructionist queer theories (i.e., Shane Phelan and Judith Butler), anarchists (i.e., Emma Goldman), and those involved in radical theatre (i.e., Augusto Boal) to articulate the revolutionary potential of ritual innovation.

Becoming Amphibious Jews

ERIC Educational Resources Information Center

Schein, Jeffrey

2007-01-01

This article presents the author's response to Joseph Reimer's essay titled, "Beyond More Jews Doing Jewish: Clarifying the Goals of Informal Jewish Education." The author focuses his response on Reimer's notions of challenging advocates of informal Jewish education to "go deeper" into the learning processes they envision. The…

Teaching Jewish History to the "Other."

ERIC Educational Resources Information Center

Goffman, Daniel

1991-01-01

Presents a course in Jewish history and culture for non-Jewish students. Stresses the importance of understanding and respecting all cultures, eliminating cultural stereotypes, and preventing polarization and xenophobia. Includes a weekly course syllabus and bibliography. Discusses the importance of countering stereotypes before presenting some…

Assisted reproductive technology: perspectives in Halakha (Jewish religious law).

PubMed

Schenker, Joseph G

2008-01-01

The Jewish religion is characterized by a strict association between faith and practical precepts. In principle, Jewish law has two divisions, the Written and the Oral traditions. The foundation of the Written Law and the origin of authority is the Torah, the first five books of the Scripture. This paper presents the attitude of Jewish religion to assisted reproductive therapeutic procedures such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection and reproductive and therapeutic cloning.

Genetic citizenship: DNA testing and the Israeli Law of Return.

PubMed

McGonigle, Ian V; Herman, Lauren W

2015-07-01

The Israeli State recently announced that it may begin to use genetic tests to determine whether potential immigrants are Jewish or not. This development would demand a rethinking of Israeli law on the issue of the definition of Jewishness. In this article, we discuss the historical and legal context of secular and religious definitions of Jewishness and rights to immigration in the State of Israel. We give a brief overview of different ways in which genes have been regarded as Jewish, and we discuss the relationship between this new use of genetics and the society with which it is co-produced. In conclusion, we raise several questions about future potential impacts of Jewish genetics on Israeli law and society.

[Debates on the "Jewish nurse" within the Jewish communities in Austro-Hungary around 1900].

PubMed

Malleier, Elisabeth

2008-01-01

The debate about the organisation of nursing became acute during the last decades of the 19th century when big modern Jewish hospitals were built in several cities of the Habsburg Monarchy. This led to an increase in the demand for nurses and to the initiation of a discussion about the professionalisation of Jewish nursing. In these debates different actors with different intentions were involved. While hospitals were looking mainly for inexpensive and unlimited working nurses, middle-class organisations such as B'nai B'rith emphasised the necessity for women to learn a useful profession to be able to support their husbands economically. Furthermore, feminists and women's associations tried to set new standards for female education, emphasising economic independence and improving the working conditions for women. Jewish feminists such as Henriette Weiss in Vienna, Ida Fuerst in Budapest, and Julie Leipen in Prague tried to build up Jewish nursing schools. The different strategies of implementations and the result of their efforts will be the main focus of this paper.

Self-stigma, insight, and family burden among Israeli mothers of people with serious mental illness: Ethno-national considerations.

PubMed

Zisman-Ilani, Yaara; Hasson-Ohayon, Ilanit; Levy-Frank, Itamar; Tuval-Mashiach, Rivka; Roe, David

2017-06-01

The current cross-sectional study investigated and compared the associations between insight, self-stigma, and family burden among Jewish and Arab mothers of an adult son or daughter with serious mental illness (SMI) in Israel. A total of 162 Israeli mothers of a person with SMI participated in the study; 95 were Jewish (58.6%), and 67 were Arab (41.4%). Insight, self-stigma, and family burden scales were administered. Jewish mothers reported higher levels of insight into their son's or daughter's illness and reported greater family burden compared to Arab mothers. No significant differences in self-stigma scores were found between Jewish and Arab mothers. The pattern of associations between insight, self-stigma, and burden differed between Jewish and Arab mothers. Self-stigma was found to mediate the relationship between insight and burden among Jewish mothers but not among Arab mothers. Ethno-national affiliation should be taken into consideration regarding how family members conceptualize and experience mental illness, as this might affect care.

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs.

PubMed

Ferragut, J F; Bentayebi, K; Pereira, R; Castro, J A; Amorim, A; Ramon, C; Picornell, A

2017-11-01

Population genetic data for 53 X-chromosome markers (32 X-indels, 9 X-Alu insertions and 12 X-STRs) are reported for five populations with Jewish ancestry (Sephardim, North African Jews, Middle Eastern Jews, Ashkenazim, and Chuetas) and Majorca, as the host population of Chuetas. Genetic distances between these populations demonstrated significant differences, except between Sephardic and North African Jews, with the Chuetas as the most differentiated group, in accordance with the particular demographic history of this population. X-chromosome analysis and a comparison with autosomal data suggest a generally sex-biased demographic history in Jewish populations. Asymmetry was found between female and male effective population sizes both in the admixture processes between Jewish communities, and between them and their respective non-Jewish host populations. Results further show that these X-linked markers are highly informative for forensic purposes, and highlight the need for specific databases for differentiated Jewish populations. Copyright © 2017 Elsevier B.V. All rights reserved.

Social Psychological Origins of Conspiracy Theories: The Case of the Jewish Conspiracy Theory in Malaysia

PubMed Central

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes. PMID:22888323

Social psychological origins of conspiracy theories: the case of the jewish conspiracy theory in malaysia.

PubMed

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes.

Defining Purpose for Policy and Practice

ERIC Educational Resources Information Center

Kardos, Susan M.

2012-01-01

Jonathan Woocher's "Reinventing Jewish Education for the 21st Century" presents a vision for a reimagined system of Jewish education. The educational landscape is changing, Woocher says, both because of a myriad of contextual factors (economic, geopolitical, technological, sociological) and because of the very need for Jewish educational decision…

A New Approach to Jewish Divorce.

ERIC Educational Resources Information Center

Eisenstein, Ira

1983-01-01

Describes recent changes in the traditional Jewish law of divorce, which permits a husband to divorce his wife but does not sanction the wife's divorcing him. The rabbis of the Reconstructionist Movement in Judaism have innovated an egalitarian divorce to prevent Jewish women from becoming abandoned wives. (JAC)

"Shalom Sesame": Using Media to Promote Jewish Education and Identity

ERIC Educational Resources Information Center

Fisch, Shalom M.; Lemish, Dafna; Spezia, Elizabeth; Siegel, Deborah; Fisch, Susan R. D.; Aladé, Fashina; Kasdan, Daniel

2013-01-01

A family survey, ethnographic study, and quasi-experimental study investigated "Shalom Sesame's" potential to enhance understanding of Jewish culture and identity among preschool families. Preschoolers demonstrated significant learning, recognizing that people who looked different could be Jewish, and in knowledge about Hebrew words,…

Experiential Jewish Education Has Arrived! Now What?

ERIC Educational Resources Information Center

Kress, Jeffrey S.

2014-01-01

Experiential Jewish education has been experiencing a time of growth, during which theory development, research, and practice have established a strong voice for the construct. Much of the focus to this point has been on definitions (particularly the distinction between "experiential" and "informal" Jewish education) and on…

Nonprofit Groups Offer Genetic Testing for Jewish Students

ERIC Educational Resources Information Center

Supiano, Beckie

2008-01-01

This article describes how nonprofit organizations like Hillel are offering free genetic testing for Jewish college students. A growing number of colleges, including Pittsburgh, Brandeis University, and Columbia University are offering students free or reduced-cost screenings for diseases common to Jewish population. Genetic diseases common to…

Histopathologic Differences between Jewish and Arab Population in Israel at First-Time Presentation with Bladder Cancer

PubMed Central

Halachmi, Sarel; Shprits, Sagi; Masarwa, Ismail; Sabo, Edmond; Moskovitz, Boaz; Nativ, Ofer

2017-01-01

Background Pathology of urothelial carcinoma may vary in different populations at diagnosis. Our aim was to evaluate the histopathologic differences between Jewish and Arab patients in Israel at first diagnosis of urothelial cancer. Patients and Methods We retrospectively collected data of all patients with confirmed urothelial cancer, treated at our department between January 2010 and January 2015. We examined the distribution of the histopathologic data among the studied populations. To compare the categorical variables we used the Chi-Square Pearson test. Comparison of independent variables was made by Student's t-test. P value below 0.05 was considered significant. Results The study group included 413 patients, 345 Jews and 68 Arabs. The major differences were that Arab patients were younger (62.61 versus 68.55 years, P = 0.001), had more aggressive tumors that were detected at a more advanced stage, and had also a higher rate of metastatic disease (7.4% versus 3.2%, P = 0.05). Nonurothelial cell tumors were 2.3 times more prevalent in Arab population. Unlike Jewish population, Arab women had higher rate of invasive/metastatic disease compared with Arab men (40% versus 22.4%). Conclusion At time of diagnosis the tumors were more aggressive in Arab patients, especially in Arab women. The reasons for those differences constitute a target for a separate research. These results should have an impact on prevention medicine and education of physicians treating mixed populations. PMID:28812022

Pedagogies of Interpretation, Argumentation, and Formation: From Understanding to Identity in Jewish Education

ERIC Educational Resources Information Center

Shulman, Lee S.

2008-01-01

The author summarizes current thinking about signature pedagogies in "learning to profess" and explores the extent to which these ideas apply to Jewish education. Three signature pedagogies for Jewish education are proposed: the d'var Torah, "chevruta", and pedagogies of argumentation ("machloket"). (Contains 1 figure.)

Adolescents' Orientation Toward the Future: Sex Role Differentiation in a Sociocultural Context.

ERIC Educational Resources Information Center

Seginer, Rachel

1988-01-01

Tested the future orientation of 228 Jewish and Arab adolescents. Results supported the hypothesized instrumental-expressive division between Jewish males and females and the primacy of higher education for Arab females; these gender differences are sustained by the developmental settings of Jewish and Arab adolescents. (Author/BJV)

Ethnic Stereotypic Attitudes among Israeli Children: Two Intervention Programs.

ERIC Educational Resources Information Center

Slone, Michelle; Tarrasch, Ricardo; Hallis, Dana

2000-01-01

Examined stereotypic attitudes of Israeli children toward Arab and Jewish children and their alteration with two 6-week classroom intervention programs. Found that Jewish children held more negative stereotypes toward Arab than toward Jewish children. Found that both textual and audiovisual programs reduced negative Arab stereotypes in comparison…

Ready to Lead? A Look into Jewish Religious School Principal Leadership and Management Training

ERIC Educational Resources Information Center

Vaisben, Eran

2018-01-01

Although most Jewish supplementary religious school principals have graduated from various academic training programs, there are no data about how these programs sufficiently prepare educational leaders. This study examined the essential leadership and management skills of effective Jewish religious school leaders, and assessed their preparation…

Constructivism and Jewish Early Childhood Education

ERIC Educational Resources Information Center

Muller, Meir

2013-01-01

Having an educational theory as a school's foundation is a key component in successful educational endeavors. However, many Jewish early childhood programs do not commonly use educational theory to support methods of instruction. In this study 14 children from a constructivist-based Jewish kindergarten class are interviewed to determine how they…

Intergenerational Challenges in Australian Jewish School Education

ERIC Educational Resources Information Center

Gross, Zehavit; Rutland, Suzanne D.

2014-01-01

The aim of this research is to investigate the intergenerational changes that have occurred in Australian Jewish day schools and the challenges these pose for religious and Jewish education. Using a grounded theory approach according to the constant comparative method (Strauss 1987), data from three sources (interviews [296], observations [27],…

Factors Contributing to the Academic Excellence of American Jewish and Asian Students.

ERIC Educational Resources Information Center

Fejgin, Naomi

1995-01-01

Examines factors that contribute to the academic excellence of Jewish and Asian students. Finds that traditional socioeconomic measures explain some of the advantage of Jewish and Asian students over other ethnic groups but that parent and student attitudes toward education is also an important factor. (ACM)

Educating towards a "Fusion of Horizons"

ERIC Educational Resources Information Center

Findling, Debbie

2007-01-01

This article presents the author's response to Joseph Reimer's article titled, "Beyond More Jews Doing Jewish: Clarifying the Goals of Informal Jewish Education." In his article, Reimer laudably seeks to concretize the often ambiguous goals of informal Jewish education. To build his case, he points to the work of Mihalyi Csikszentmihalyi to…

New Frontiers: "Milieu" and the Sociology of American Jewish Education

ERIC Educational Resources Information Center

Horowitz, Bethamie

2008-01-01

Over the course of the twentieth century changing circumstances have prompted American Jewish educators to develop new educational strategies to address these needs, and these developments are an important aspect of the sociology of American Jewish education. Using the method of historical sociology, I examine the educational configuration at…

Princeton Tries To Explain a Drop in Jewish Enrollment.

ERIC Educational Resources Information Center

Gose, Ben

1999-01-01

The proportion of Princeton University (New Jersey) freshmen who identify themselves as Jewish is half what it was in 1973, and the proportion of Jewish Princeton students overall is less than half that of Harvard University (Massachusetts) or Yale University (Connecticut). Some fault recruitment strategy changes; others believe fewer Jewish…

Open communication with terminally ill cancer patients about illness and death: a comparison between spouses of Ashkenazi and Sephardi ethnic origins.

PubMed

Bachner, Yaacov G; Yosef-Sela, Nili; Carmel, Sara

2014-01-01

Studies document that caregivers face severe difficulties in communicating with their loved ones about both illness and death. To date, a paucity of studies has examined caregiver-patient communication at the end of life within the context of ethnic origin. This study compares the level of open communication between caregivers from 2 ethnic groups and examines the contribution of different caregiver characteristics and situational variables to the explanation of open communication. A total of 77 spouse caregivers of terminally ill cancer patients (comprising 41 Jews of Sephardi origin and 36 Jews of Ashkenazi origin) participated in the study. The questionnaire included measures of caregiver communication, caregiver characteristics (ie, age, gender, education level, optimism, self-efficacy), and situational variables (ie, duration and intensity of care). Spouses of Ashkenazi origin communicated more with their loved ones about illness and death compared with their Sephardi counterparts. Ethnic origin accounted for 16.6% of the explained variance, caregiver characteristics added 20.3%, and situation variables lent a modest contribution of 3.5%. Four variables emerged as significant predictors of caregivers' level of open communication: self-efficacy (β = .33, P < .05), gender (β = .32, P < .01), ethnic origin (β = .25, P <.05), and duration of care (β = .20, P < .05). These findings demonstrate the importance of ethnic origin to caregivers' open communication with terminal cancer patients about illness and death. Moreover, communication level with patients is mostly explained by the caregiver characteristics. Caregiver characteristics should be considered by nurses when developing intervention programs for increasing caregivers' level of open communication with dying patients.

Paradoxical affinities: otherness and ambivalence as creative pathways.

PubMed

Wiener, Jan

2018-06-01

Referring to her own background as the child of Jewish refugees forced to leave their countries of origin before the second World War, the author describes how her attitude towards Jung and his ideas has evolved. The role of paradoxical affinities that have affected the author's life and identity as a Jungian analyst are considered, alongside the impact of experiences of otherness whilst supervising and teaching abroad, particularly in Eastern Europe. © 2018, The Society of Analytical Psychology.

BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

PubMed

Solano, Angela Rosaria; Aceto, Gitana Maria; Delettieres, Dreanina; Veschi, Serena; Neuman, Maria Isabel; Alonso, Eduardo; Chialina, Sergio; Chacón, Reinaldo Daniel; Renato, Mariani-Costantini; Podestá, Ernesto Jorge

2012-01-01

The spectrum of BRCA1/2 genetic variation in breast-ovarian cancer patients has been scarcely investigated outside Europe and North America, with few reports for South America, where Amerindian founder effects and recent multiracial immigration are predicted to result in high genetic diversity. We describe here the results of BRCA1/BRCA2 germline analysis in an Argentinean series of breast/ovarian cancer patients selected for young age at diagnosis or breast/ovarian cancer family history. The study series (134 patients) included 37 cases diagnosed within 40 years of age and no family history (any ethnicity, fully-sequenced), and 97 cases with at least 2 affected relatives (any age), of which 57 were non-Ashkenazi (fully-sequenced) and 40 Ashkenazi (tested only for the founder mutations c.66_67delAG and c.5263insC in BRCA1 and c.5946delT in BRCA2). We found 24 deleterious mutations (BRCA1:16; BRCA2: 8) in 38/134 (28.3%) patients, of which 6/37 (16.2%) within the young age group, 15/57 (26.3%) within the non-Ahkenazi positive for family history; and 17/40 (42.5%) within the Ashkenazi. Seven pathogenetic mutations were novel, five in BRCA1: c.1502_1505delAATT, c.2626_2627delAA c.2686delA, c.2728 C > T, c.3758_3759delCT, two in BRCA2: c.7105insA, c.793 + 1delG. We also detected 72 variants of which 54 previously reported and 17 novel, 33 detected in an individual patient. Four missense variants of unknown clinical significance, identified in 5 patients, are predicted to affect protein function. While global and European variants contributed near 45% of the detected BRCA1/2 variation, the significant fraction of new variants (25/96, 26%) suggests the presence of a South American genetic component. This study, the first conducted in Argentinean patients, highlights a significant impact of novel BRCA1/2 mutations and genetic variants, which may be regarded as putatively South American, and confirms the important role of founder BRCA1 and BRCA2 mutations in Argentinean Ashkenazi Jews.

Achievement of Jewish and Arab Students Who Studied Inquiry Oriented Curriculum for Several Years.

ERIC Educational Resources Information Center

Tamir, Pinchas

The study compares the achievement of Jewish and Arab students in the high school biology matriculation examinations in Israel with special reference to differences between boys and girls. While Jewish and Arab students follow the same syllabus and take identical matriculation examinations, significant differences exist in learning and achievement…

Embracing Jewish Day School Education in England, 1965-1979

ERIC Educational Resources Information Center

Mendelsson, David

2009-01-01

Between 1965 and 1979 the demand for places at Jewish day schools in England rose dramatically. In the preceding decades, most parents sent their children to state non-denominational schools, showing little interest in providing their children with a solid Jewish education. Sunday or after-school Hebrew classes, rarely extending beyond Bar/Bat…

Teaching "Teacha!" An Exploration of Culturally Responsive Pedagogy in Jewish Education

ERIC Educational Resources Information Center

Hirsch, Miriam

2014-01-01

This case study examines the contours of culturally relevant pedagogy in an undergraduate preservice teacher education program for Jewish women. The case describes how the assigned reading of Albarelli's (2000) narrative of teaching in a Hasidic Jewish school, "Teacha! Stories from a Yeshiva", disrupts the classroom community,…

The Gender Question and the Study of Jewish Children

ERIC Educational Resources Information Center

Charme, Stuart Z.

2006-01-01

Although some researchers argue that a generation of feminist innovations and changes in American Jewish life has produced an egalitarian generation in which gender differences among Jewish children and adolescents are insignificant, this article argues that the salience of gender differences is a factor of the kinds of questions that children are…

Performing Identities in the Classroom: Teaching Jewish Women's Studies

ERIC Educational Resources Information Center

Friedman, Kathie; Rosenberg, Karen

2007-01-01

Teaching about intersecting, fluid and historically contingent identities has been taken up extensively within the sociology of race, class and gender and women's studies. Oddly, the case of Jewish women has been virtually left out of this robust literature. This article explores the challenges raised through teaching the course "Jewish Women in…

Educational Implications of Michael Fishbane's "Sacred Attunement: A Jewish Theology"

ERIC Educational Resources Information Center

Marom, Daniel

2008-01-01

This article posits Michael Fishbane's Judaic scholarship as a prime resource for Jewish education. The link between the two fields can be made through a translation of the theological underpinnings of Fishbane's insights into Judaism to educational purposes and practices. Initial work with Jewish educators on establishing this link encouraged…

Seminary Education and Christian-Jewish Relations. A Curriculum and Resource Handbook.

ERIC Educational Resources Information Center

Fisher, Eugene J.

Intended for use in Roman Catholic seminaries to educate in their ecumenical and interfaith responsibilities those in training to become priests, this handbook discusses the manifold implications of Jewish-Christian relations. It is recommended that the topic of Jewish-Christian relations be integrated into the existing areas of seminary study.…

78 FR 26215 - Jewish American Heritage Month, 2013

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-03

... American Heritage Month, 2013 By the President of the United States of America A Proclamation In his second... American shores. We take this month to celebrate the progress that followed, and the bright future that... May 2013 as Jewish American Heritage Month. I call upon all Americans to visit www.JewishHeritageMonth...

Jewishly-Informed Mature Adult Service-Learning

ERIC Educational Resources Information Center

Bretan, Gail Helene

2013-01-01

The purpose of this study is to describe, implement, and interpret the intersection of service-learning, Jewish values and ways of knowing, adult education, and lifelong learning for people over the age of 50. By expanding service-learning to include both older adults and Jewish ways of knowing, there is potential for transforming these frameworks…

Jewish Day School Wounds and What We Can Do about Them

ERIC Educational Resources Information Center

Hirsch, Miriam

2017-01-01

This article is based upon a qualitative research study that examined 95 school stories written by Jewish female teacher candidates in an undergraduate education course. Many candidates wrote inspirational or humorous stories about growth and development or a special teacher. However, over one third of the narratives described painful Jewish day…

Introduction to the Hebrew Edition of "Visions of Jewish Education--Medabrim Chazon" (Talking Vision)

ERIC Educational Resources Information Center

Katzman, Avi; Marom, Daniel

2007-01-01

The following is a translation of the introduction to "Medabrim Chazon" (Jerusalem: Keter, 2006), the Hebrew translation of "Visions of Jewish Education," edited by Seymour Fox, Israel Scheffler, and Daniel Marom (Cambridge, 2003). "Visions of Jewish Education" is an effort by leading scholars to improve the quality…

What Connects "Good" Teaching, Text Study and "Hevruta" Learning? A Conceptual Argument

ERIC Educational Resources Information Center

Holzer, Elie

2006-01-01

The study of Jewish traditional texts in a "hevruta" learning setting (two people studying a text together) represents past as well as contemporary modes of Jewish religious and devotional study. More recently, "hevruta" learning has made its way into several contexts of professional development in Jewish education, including inservice settings…

Values in Tension: Israel Education at a U.S. Jewish Day School

ERIC Educational Resources Information Center

Zakai, Sivan

2011-01-01

The Naphtali Herz Imber Jewish Day School proudly proclaimed its commitment to Israel, yet many of its students experienced profound ambivalence toward the Jewish State. Why? The school was committed to a series of contradictory values which surfaced in its approach to Israel education. This article outlines three distinct yet interrelated…

A Content Analysis of the First National Conference on Adult Jewish Education.

ERIC Educational Resources Information Center

Feinstein, Sara

Based on a set of propositions for maintaining individual group culture, this study examined the outlook of adult Jewish education practitioners. A limited survey of adult Jewish education revealed certain needs and problems, and a national conference was convened to discuss the findings. Tape-recorded statements by speakers and workshop…

Putting context into a cultural perspective: examining Arab and Jewish adolescents' judgments and reasoning about spousal retribution.

PubMed

Pitner, Ronald O; Astor, Ron Avi; Benbenishty, Rami; Haj-Yahia, Muhammad M; Zeira, Anat

2011-05-01

In this study, we examined what contextual factors influence adolescents' judgments and reasoning about spousal retribution. Adolescents were drawn from Central and Northern Israel and consisted of 2,324 Arab and Jewish students (Grades 7-11). The study was set up in a 2 (Arab/Jewish respondent) × 2 (spousal retribution scenarios) factorial design. Our findings suggest that societal and cultural norms may be more powerful contextual variables than group stereotypes in influencing Arab and Jewish adolescents' evaluations of spousal retribution. Theoretical and practical implications are discussed.

Introducing a Brief Measure of Cultural and Religious Identification in American Jewish Identity

ERIC Educational Resources Information Center

Friedlander, Myrna L.; Friedman, Michelle L.; Miller, Matthew J.; Ellis, Michael V.; Friedlander, Lee K.; Mikhaylov, Vadim G.

2010-01-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed…

How They Teach the Holocaust in Jewish Day Schools

ERIC Educational Resources Information Center

Ellison, Jeffrey Alan

2017-01-01

Though Holocaust education is of critical importance in the world of Jewish Day Schools, little research has been conducted about it. The purpose of this paper is to answer some critical questions about how they teach the Holocaust in Jewish Day Schools--the who, what, when, where, how, and why questions. Additionally, comparisons are made between…

Traditional Jewish Learning: Philosophy and Practice.

ERIC Educational Resources Information Center

Pollak, Susan

Education was so much a part of Jewish thought and way of life that it was often taken for granted, e.g., the early sages never wrote an articulated plan for education principles and practices. The introduction to this overview of traditional Jewish education discusses the basic concepts of belief in the efficacy of education, the integration of…

A Virtual "Veibershul": Blogging and the Blurring of Public and Private among Orthodox Jewish Women

ERIC Educational Resources Information Center

Lieber, Andrea

2010-01-01

A series of articles appearing in English-language Jewish newspapers in the United States and the United Kingdom have recently announced the "blogosphere"--the world of discourse propelled by the technological innovation of online interactive diaries known as "weblogs"--as a new liberating arena for Orthodox Jewish women. In…

Teaching about Catholic-Jewish Relationships: Interpreting Jewish Hostility to Jesus in the Gospels

ERIC Educational Resources Information Center

Wansbrough, Henry

2016-01-01

A recent article in this journal, "Teaching about Catholic--Jewish relations: some guidelines to assist the work of teachers in Catholic schools," by Clare Jardine (Volume 7, no 1, 46-60), includes a page on "A new approach to New Testament studies." There the author points out that "The situations described in the Gospels…

Kabbalah, Education, and Prayer: Jewish Learning in the Seventeenth Century

ERIC Educational Resources Information Center

Necker, Gerold

2018-01-01

In the seventeenth century, the Jewish mystical tradition which is known as Kabbalah was integrated into the curriculum of studying the Hebrew Bible and the Talmud. Kabbalah became popular in these times in the wake of the dissemination of Isaac Luria's teachings, in particular within the Jewish communities in Prague and Amsterdam, where members…

Team-Based Simulation: Toward Developing Ethical Guidelines among American and Israeli Teachers in Jewish Schools

ERIC Educational Resources Information Center

Shapira-Lishchinsky, Orly; Glanz, Jeffrey; Shaer, Anat

2016-01-01

This study attempts to explore Israeli and American teachers' perceptions based on their ethical dilemmas in Jewish schools. A cross-national study was undertaken in Jewish schools, examining fifty teachers from Israel and fifty-one teachers from the United States. Designed with team-based simulations, this study revealed strong similarities…

Preparing Jewish Educators: The Research We Have, the Research We Need

ERIC Educational Resources Information Center

Feiman-Nemser, Sharon

2014-01-01

This article discusses the research we have and the research we need in both general and Jewish teacher education. First, I discuss three recent efforts to synthesize and assess existing research in teacher education and to identify needed research. Next I review a handful of recent studies in Jewish teacher education which illustrate various…

Examining Social Perceptions between Arab and Jewish Children through Human Figure Drawings

ERIC Educational Resources Information Center

Yedidia, Tova; Lipschitz-Elchawi, Rachel

2012-01-01

This study examined social perceptions among 191 Arab and Jewish children who live in mixed neighborhoods in Israel. Human Figure Drawing assessment was used to examine the children's social perceptions. The drawings that the Jewish Israeli children created portrayed Arabs as the enemy, whereas the Arab Israeli children expressed a more positive…

Attitudes towards Bilingual Arab-Hebrew Education in Israel: A Comparative Study of Jewish and Arab Adults

ERIC Educational Resources Information Center

Azaiza, Faisal; Hertz-Lazarowitz, Rachel; Shoham, Meyrav; Amara, Muhammad; Mor-Sommerfeld, Aura; 'Ali, Nohad

2011-01-01

This study examines attitudes towards bilingual Jewish-Arab education among Jewish and Arab adults in Israel. The sample consisted of 1014 respondents who participated in a national phone survey in late 2006. Results indicate that Arabs are significantly more supportive of bilingual education in Israel than Jews. Positive attitudes regarding the…

Moral Courage from the Perspective of Arab Teachers in Jewish Schools

ERIC Educational Resources Information Center

Baratz, Lea

2016-01-01

The current study aims to call attention to the phenomenon of female Muslim Arab teachers teaching in Israeli Jewish schools. The study examined the manner in which these female Muslim Arab teachers perceived their integration into the milieu of the Jewish schools, based on their descriptions of the various processes they experience when dealing…

Case Studies of North American Jewish Educators: Attitudes Regarding Israel and Israel Engagement

ERIC Educational Resources Information Center

Bell-Kligler, Roberta

2013-01-01

The role of Israel in the identity of North American Jews is of concern and interest to community leaders, philosophers of Jewish education, and most important, practitioners in the field. Although there is an awareness of the need to help emerging Jewish educators grapple with the complex questions surrounding Israel engagement, little research…

Exploring 350 Years of Jewish American History on the Internet

ERIC Educational Resources Information Center

Berson, Michael J.; Cruz, Barbara C.

2005-01-01

The recent Library of Congress exhibition, From Haven to Home: 350 Years of Jewish Life in America, has sparked renewed interest in the history of Jews in the United States. The collection featured more than 200 documents, images, and artifacts that chronicle the Jewish American experience. In exhibit from September through December 2004, From…

Extremely elevated relative risk of paraffin lamp oil exposures in Orthodox Jewish children.

PubMed

Hoffman, Robert J; Morgenstern, Solomon; Hoffman, Robert S; Nelson, Lewis S

2004-04-01

In observance of the Sabbath and other religious holidays, many Orthodox Jews maintain a burning lamp that uses paraffin lamp oil as fuel. Unintentional pediatric exposure to paraffin lamp oil, a hydrocarbon, is typically by ingestion and carries a risk of aspiration with subsequent pneumonitis. This investigation was prompted by an apparent increase in paraffin lamp oil exposures during the Jewish Sabbath, from sunset Friday until sunset Saturday, noted by the staff of our regional poison control center. In this investigation, we retrospectively reviewed all exposures to paraffin lamp oil occurring in our large city in children <18 years old reported to our regional poison control center between January 1, 2000, and February 1, 2003. Reports were investigated to ascertain the frequency of occurrence of paraffin lamp oil exposures on the Jewish Sabbath and Jewish religious holidays. Caregivers of involved children were surveyed by telephone to determine the exposed child's religion and circumstances of exposure. During these 25 months, 45 cases met inclusion criteria, and all were ingestions. Orthodox Jews accounted for 32 cases (71%), 4 cases (9%) occurred in children who were not Orthodox Jews, and demographic data were unavailable in 9 cases (20%). Twenty-four cases (53%) occurred within 10 hours before or during the Jewish Sabbath or Jewish religious holidays. The relative risk of Orthodox Jewish children to ingest paraffin lamp oil, calculated by using census data, is 374 times that of other children. Public health authorities and caregivers of Orthodox Jewish children should be cognizant of this phenomenon. Educational efforts directed toward both Orthodox Jews and the general public aimed at preventing paraffin lamp oil exposures are warranted.

Portuguese crypto-Jews: the genetic heritage of a complex history

PubMed Central

Nogueiro, Inês; Teixeira, João C.; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-01-01

The first documents mentioning Jewish people in Iberia are from the Visigothic period. It was also in this period that the first documented anti-Judaic persecution took place. Other episodes of persecution would happen again and again during the long troubled history of the Jewish people in Iberia and culminated with the Decrees of Expulsion and the establishment of the Inquisition: some Jews converted to Catholicism while others resisted and were forcedly baptized, becoming the first Iberian Crypto-Jews. In the 18th century the official discrimination and persecution carried out by the Inquisition ended and several Jewish communities emerged in Portugal. From a populational genetics point of view, the worldwide Diaspora of contemporary Jewish communities has been intensely studied. Nevertheless, very little information is available concerning Sephardic and Iberian Crypto-Jewish descendants. Data from the Iberian Peninsula, the original geographic source of Sephardic Jews, is limited to two populations in Portugal, Belmonte, and Bragança district, and the Chueta community from Mallorca. Belmonte was the first Jewish community studied for uniparental markers. The construction of a reference model for the history of the Portuguese Jewish communities, in which the genetic and classical historical data interplay dynamically, is still ongoing. Recently an enlarged sample covering a wide region in the Northeast Portugal was undertaken, allowing the genetic profiling of male and female lineages. A Jewish specific shared female lineage (HV0b) was detected between the community of Belmonte and Bragança. In contrast to what was previously described as a hallmark of the Portuguese Jews, an unexpectedly high polymorphism of lineages was found in Bragança, showing a surprising resistance to the erosion of genetic diversity typical of small-sized isolate populations, as well as signs of admixture with the Portuguese host population. PMID:25699075

Jewish ethics and xenotransplantation.

PubMed

Mathieu, Richard

2016-07-01

Although exclusively secular approaches to xenotransplantation are methodologically necessary to establish a fundamental verdict on its theoretical ethical acceptability, it is nevertheless pragmatically appropriate to take into account specifically religious positions, as religion is a factor relevant to societal acceptability. Apart from the aspect of societal acceptability, Jewish bioethics, like other religiously embedded ethics, may enrich the broader ethical discourse on xenotransplantation, as some of its principles-pikuach nefesh being the most prominent one-are plausible even in the framework of secular ethics. This paper first explores concepts of normativity in Jewish ethics before identifying specific ethical issues in Jewish bioethics and possible resolutions offered within the framework of Jewish ethics, and then finally examine the implications for the broader debate on xenotransplantation. Religions in general and Judaism in specific cannot and should not be systematically excluded from ethical debates, not only because they may provide helpful input, but also because religion, religiousness and the affiliation to a religion can be crucial factors regarding the societal acceptability of specific medical technologies and procedures as they may be important aspects of an individual's identity. The principles of Jewish bioethics may be compelling to those who do not necessarily share the specifically religious prerequisites on which Jewish ethics is established. Among these rather cogent concepts is the status of natural law and naturalness, which is far more open to medical technologies and procedures deemed as unnatural and thus morally wrong by other religious parties in public discourse. Jewish ethics has strong tendencies toward supporting xenotransplantation given a certain criteria is met. No categorical bans on xenotransplantation can be established on the grounds of Halacha. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Portuguese crypto-Jews: the genetic heritage of a complex history.

PubMed

Nogueiro, Inês; Teixeira, João C; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-01-01

The first documents mentioning Jewish people in Iberia are from the Visigothic period. It was also in this period that the first documented anti-Judaic persecution took place. Other episodes of persecution would happen again and again during the long troubled history of the Jewish people in Iberia and culminated with the Decrees of Expulsion and the establishment of the Inquisition: some Jews converted to Catholicism while others resisted and were forcedly baptized, becoming the first Iberian Crypto-Jews. In the 18th century the official discrimination and persecution carried out by the Inquisition ended and several Jewish communities emerged in Portugal. From a populational genetics point of view, the worldwide Diaspora of contemporary Jewish communities has been intensely studied. Nevertheless, very little information is available concerning Sephardic and Iberian Crypto-Jewish descendants. Data from the Iberian Peninsula, the original geographic source of Sephardic Jews, is limited to two populations in Portugal, Belmonte, and Bragança district, and the Chueta community from Mallorca. Belmonte was the first Jewish community studied for uniparental markers. The construction of a reference model for the history of the Portuguese Jewish communities, in which the genetic and classical historical data interplay dynamically, is still ongoing. Recently an enlarged sample covering a wide region in the Northeast Portugal was undertaken, allowing the genetic profiling of male and female lineages. A Jewish specific shared female lineage (HV0b) was detected between the community of Belmonte and Bragança. In contrast to what was previously described as a hallmark of the Portuguese Jews, an unexpectedly high polymorphism of lineages was found in Bragança, showing a surprising resistance to the erosion of genetic diversity typical of small-sized isolate populations, as well as signs of admixture with the Portuguese host population.

Three Holy Men Get Haircuts: The Semiotic Analysis of a Joke

PubMed Central

Berger, Arthur Asa

2016-01-01

This article deals with a typology of 45 techniques of humor that I found when doing research on the mechanisms that generate humor in texts, lists the techniques and applies them to a Jewish joke. It references the work of Vladimir Propp on folktales as analogous in that both are concerned with mechanisms in text that generate meaning. It also deals with four theories about why people find texts humorous, defines the joke as a short narrative with a punch line that is meant to generate mirthful laughter and defines Jewish humor as being about Jewish people and culture as told by Jewish people. It offers a paradigmatic analysis of the joke, and offers some insights into why Jewish people developed their distinctive kind of humor. This article is an enhanced and expanded version of an article which was published in a Chinese semiotics journal (doi:10.1515/css-2015-0022). PMID:27547262

The fate of Hungarian Jewish dermatologists during the Holocaust: Part 2: Under Nazi rule.

PubMed

Bock, Julia; Burgdorf, Walter H C; Hoenig, Leonard J; Parish, Lawrence Charles

At least 564,500 Hungarian Jews perished during the Holocaust, including many physicians. Exactly how many Jewish dermatologists were killed is not known. We have identified 62 Hungarian Jewish dermatologists from this period: 19 of these dermatologists died in concentration camps or were shot in Hungary, 3 committed suicide, and 1 died shortly after the Holocaust, exhausted by the War. Fortunately, many Hungarian Jewish dermatologists survived the Holocaust. Some had fled Europe before the Nazi takeover, as was described in Part 1 of this contribution. Two Holocaust survivors, Ferenc Földvári and Ödön Rajka, became presidents of the Hungarian Dermatologic Society and helped rebuild the profession of dermatology in Hungary after the War. This contribution provides one of the first accounts of the fate of Hungarian Jewish dermatologists during the Holocaust and serves as a remembrance of their suffering and ordeal. Copyright © 2016. Published by Elsevier Inc.

[Jewish medical practitioners in 14th and 15th century Munich].

PubMed

Jankrift, Kay Peter

2002-01-01

Contemporary sources reveal little information about the social conditions of Jewish medical practitioners in 14th and 15th century Munich. Due to the concurrence on the local "medical market" none of the five Jewish doctors named in the documents could practice for a longer period in teh late medieval city. Unlike their co-religionists in several cities of Westphalia, where physicians and surgeons were lacking, no Jewish medical practitioner was ever employed by the Magistrate of Munich. Thus, all of them seemed to have hoped for an employment at the court of the Bavarian Dukes. But with the exception of Jacob of Landshut, physician to the Bavarian Dukes Steven III. and Albrecht III. during the second half of the 14th century, whose medical career and social environment can roughly be retraced, no Jewish doctor seems to have been in service of the court for a longer time.

Bikkur Holim: the origins of Jewish pastoral care.

PubMed

Sheer, Charles

2008-01-01

This paper surveys classical Jewish texts--from the Hebrew Bible through Medieval codes--regarding the concept and practice of Bikkur Holim, literally, "the sick visit." How does this literature understand this ethical, religious act; who are the practitioners; what are their objectives? Although the Hebrew Bible does not contain a biblical precedent or legal mandate for Bikkur Holim, various categories of pastoral actions are traced in midrashic and talmudic texts. Their nuances are examined closely and a conceptualization of Jewish pastoral care is identified in a work by thirteenth century rabbi, jurist and physician, Nahmanides. Ezekiel 34 is proposed as the source for the rabbinic term, Bikkur Holim, as well as the conceptual understanding of Jewish pastoral care. Finally, the author posits various questions regarding the implication of his findings on the conduct of Jewish pastoral care, the value of spiritual assessment, and the nature of chaplaincy work in our various religious traditions.

Attitudes toward Dating Violence among Jewish and Arab Youth in Israel

ERIC Educational Resources Information Center

Sherer, Moshe

2010-01-01

The objectives of this research were to assess the attitudes toward dating violence among Jewish and Arab male and female adolescents in Israel. The random sample consisted of 1,357 participants from among 9th to 12th grade pupils enrolled in eight Arab and eight Jewish junior and senior high schools. The study assessed attitudes toward…

Multiple Identities of Jewish Immigrant Adolescents from the Former Soviet Union: An Exploration of Salience and Impact of Ethnic Identity

ERIC Educational Resources Information Center

Birman, Dina; Persky, Irena; Chan, Wing Yi

2010-01-01

The current paper explores the salience and impact of ethnic and national identities for immigrants that are negotiating more than two cultures. Specifically, we were interested in the ways in which Jewish immigrant adolescents from the former Soviet Union integrate their Russian, Jewish, and American identities, and to what extent identification…

Teachers' Study Guide: The American Jewish Writer. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Zara, Louis

This guide was prepared to give an historical as well as a contemporary perspective on American Jewish authors and their writings. An introductory section presents information on such authors as Saul Bellow, Bernard Malamud, and Philip Roth; on the unique problems which Jewish writers have encountered in America; and on the breadth of current…

Parenting Style as a Moderator of Effects of Political Violence: Cross-Cultural Comparison of Israeli Jewish and Arab Children

ERIC Educational Resources Information Center

Slone, Michelle; Shechner, Tomer; Farah, Oula Khoury

2012-01-01

This study examined cross-cultural differences in the moderating function of authoritarian, authoritative, and permissive parenting styles for Jewish and Arab Israeli children exposed to political violence. Respondents were parents and children aged 10-11 from 94 families (42 Arab, 52 Jewish). Parents completed the Parenting Styles and Dimensions…

Self-Concept in Young Adults with a Learning Disability from the Jewish Community

ERIC Educational Resources Information Center

Bunning, Karen; Steel, Gabriela

2007-01-01

A small pilot study was conducted to explore the self-concept of young people with a learning disability from a Jewish community in an inner city area. Four young people participated in the project. All attended a college dedicated to the further education of people with special needs from the Jewish community. Semi-structured interviews were…

Return of the Pink Rabbit? A Visit to a Jewish School in Berlin.

ERIC Educational Resources Information Center

Rodden, John

1996-01-01

Describes a day in the life of teachers and students at a Jewish elementary school in Berlin, Germany. On this 1994 mid-October morning, the school is under tight security, since skinheads began defacing Jewish graves, neo-Nazis started chanting in the streets, and Palestinian radicals began attacking German Jews. Education toward faith is the…

The Art of Living Together: Reducing Stereotyping and Prejudicial Attitudes through the Arab-Jewish Class Exchange Program (CEP)

ERIC Educational Resources Information Center

Berger, Rony; Abu-Raiya, Hisham; Gelkopf, Marc

2015-01-01

This study evaluated the efficacy of a newly developed Arab-Jewish Class Exchange Program (CEP) in reducing stereotyping and prejudicial attitudes between Israeli-Jewish and Israeli-Palestinian children. The CEP builds on the core principles of contact theory and is designed to help participants cultivate empathy and tolerance toward the other.…

"Look, Each Side Says Something Different:" The Impact of Competing History Teaching Approaches on Jewish and Arab Adolescents' Discussions of the Jewish-Arab Conflict

ERIC Educational Resources Information Center

Goldberg, Tsafrir; Ron, Yiftach

2014-01-01

There is growing interest in the impact of Jewish and Arab historical narratives on intergroup relations and conflict. A randomized placement comparative study set out to examine it empirically. Conventional-Authoritative official narrative, Empathetic Dual narrative, and Critical-Disciplinary multiple-source teaching interventions were designed…

Holding the Center: How One Jewish Day School Negotiates Differences in a Pluralistic Community

ERIC Educational Resources Information Center

Selis, Allen Harold

2010-01-01

This study centers on the experiences of students and religious study faculty in the high school division of "CDS," a successful Kindergarten through Twelfth grade Jewish day school that defines itself as a "community" institution. The school affirms a high-profile commitment to including "the widest spectrum of Jewish practice and belief" in its…

The Study of Poverty in the Jewish Community, City of New York.

ERIC Educational Resources Information Center

Rosenshein, Joel; Ribner, Sol

Poverty in New York City has been studied but never the specific problem of the Jewish minority groupings. The present study was geared towards presenting the incidences of poverty within the Jewish population in New York City and in presenting the beginning sociological picture of poverty among Jews. The study went through three phases. A first…

Student and Teacher Responses to Prayer at a Modern Orthodox Jewish High School

ERIC Educational Resources Information Center

Lehmann, Devra

2010-01-01

This article presents the attitudes of students and teachers to prayer at an American Modern Orthodox Jewish high school. Relevant data, based on observation and interviews, emerged from a larger study of the school's Jewish and secular worlds. A significant gap in responses became apparent. Students viewed prayer as a challenge to their autonomy,…

The Jewish heritage of Ludwig Wittgenstein: its influence on his life and work.

PubMed

Abramovitch, Henry; Prince, Raymond

2006-12-01

This article discusses two aspects of Wittgenstein's Jewish heritage. First, we try to show that Wittgenstein was acutely aware of his own Jewish heritage and especially concerned about its potential influence on his work. Second, we suggest that the form of his work, specifically, his method of inquiry and the peculiar literary character of his work, bear a striking resemblance to that of Hebrew Talmud. Like other assimilated Jews of Central Europe, Wittgenstein may have been directly or indirectly exposed to Hebraic culture and Talmudic logic. An understanding of Wittgenstein's Jewish heritage provides an important and neglected perspective on his work.

Religiosity and Well-Being among Older Jewish Israelis: Findings from SHARE.

PubMed

Litwin, Howard; Schwartz, Ella; Avital, Dana

2017-01-01

This study examined the correlates of religiosity among Jewish Israelis aged 50 and older. Based on the second wave of Survey of Health, Ageing and Retirement in Europe, the findings show that almost half the Jewish respondents never pray and that, on average, prayer frequency is lower among Jewish Israelis than it is among most of their European counterparts. Multivariate logistic analyses revealed that those who pray more often have more health conditions, are less able to make ends meet financially and have fewer years of education. However, when facing ill health those who pray more often display a relatively lesser decline in their sense of well being.

Ethnicity moderates the effects of resources on adjustment of Jewish and Arab mothers of children diagnosed with cancer.

PubMed

Ben-Zur, Hasida; Khoury, Siwar Makhoul

2017-01-01

The study aimed to explore the adjustment of Jewish and Arab mothers of children diagnosed with cancer. Ninety-seven Jewish and 100 Arab mothers completed questionnaires assessing mastery, social support, and adjustment (psychological distress, quality of life, and future fears and hopes). Arab mothers were higher than Jewish mothers on distress and lower on social support and future hopes). Mastery and social support contributed independently to adjustment indices. Ethnicity moderated the effects of mastery and social support on adjustment. Ethnicity, mastery, and social support are important factors in mothers' adjustment to their child's cancer.

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

PubMed

Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T

2016-02-01

The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.

The vocal load of Reform Jewish cantors in the USA.

PubMed

Hapner, Edie; Gilman, Marina

2012-03-01

Jewish cantors comprise a subset of vocal professionals that is not well understood by vocal health professionals. This study aimed to document the vocal demands, vocal training, reported incidence of voice problems, and treatment-seeking behavior of Reform Jewish cantors. The study used a prospective observational design to anonymously query Reform Jewish cantors using a 35-item multiple-choice survey distributed online. Demographic information, medical history, vocal music training, cantorial duties, history of voice problems, and treatment-seeking behavior were addressed. Results indicated that many of the commonly associated risk factors for developing voice disorders were present in this population, including high vocal demands, reduced vocal downtime, allergies, and acid reflux. Greater than 65% of the respondents reported having had a voice problem that interfered with their ability to perform their duties at some time during their careers. Reform Jewish cantors are a population of occupational voice users who may be currently unidentified and underserved by vocal health professionals. The results of the survey suggest that Reform Jewish cantors are occupational voice users and are at high risk for developing voice disorders. Copyright © 2012 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

Teachers' Perception of School Climate in Independent Jewish Day Schools in Relation to Change and Transition of Leadership Personnel

ERIC Educational Resources Information Center

Knafo, Sharon

2012-01-01

This study examined the relationship between turnover of school leadership personnel and school climate as perceived by teachers. The study focused on Jewish day schools in the United States in different cities and states. Fifty Jewish day schools (ranging from preschool age to high school) participated in the study with 200 teachers from these…

Too Much Bar and Not Enough Mitzvah? A Proposed Research Agenda on Bar/Bat Mitzvah

ERIC Educational Resources Information Center

Schoenfeld, Stuart

2010-01-01

Jewish educators are understandably interested in research on how bar/bat mitzvah affect Jewish education or research on what Jewish schools have done to avoid the distortions of a focus on bar/bat mitzvah. Research might also focus on the somewhat different and more ambitious topic of the role that bar/bat mitzvah play in contemporary Jewish…

Are There Jewish Digital Badges?: A Study of Religious Middle- and High-School Girls' Perception of an Emerging Educational Technology-Based Assessment

ERIC Educational Resources Information Center

Abramovich, Samuel

2017-01-01

For Jewish education, digital badges can provide an alternative to traditional assessments. However, the emerging research on badges suggests a complex relationship between learning opportunities, the learner, and the design of the badge. An investigation of a digital badge system at an ultra-Orthodox Jewish middle and high school for girls…

The Student Voice in Designing a Jewish Studies High School Curriculum: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2017-01-01

In January 2012, a team of curriculum specialists based at Bar Ilan University in Israel were approached by a Jewish day school in Australia to design a new Jewish Studies curriculum for its school. The mandate was to design a curriculum model from first-steps that would form the basis for the new curriculum. This article demonstrates how…

Approaches to Conflict Resolution between Ethnic and National Groups in Israel: Arab/Jewish and Western/Middle-Eastern Jewish Youth.

ERIC Educational Resources Information Center

Amir, Yehuda; Ben-Ari, Rachel

This paper discusses the means by which youth of conflicting nationalities may be taught to live together in Israel with mutual understanding and respect. The first part of the paper focuses on relations between Jewish and Arab youth, and suggests guidelines for designing a cross-cultural learning project to improve the relations between these…

Leadership for Equity and Social Justice in Arab and Jewish Schools in Israel: Leadership Trajectories and Pedagogical Praxis

ERIC Educational Resources Information Center

Arar, Khalid Husny

2015-01-01

The research investigated how principals in Israel's Jewish and Arab school systems perceive and practice their role in promoting equitable education to bridge socio-economic and pedagogic gaps. It asked how Jewish and Arab principals understand the concept of social justice and what they do in order to promote social justice reality in their…

Eight Years Later: Education and Careers of Young Jewish Adults.

ERIC Educational Resources Information Center

Swerdloff, Sol; Rosen, Howard

Based on response to a mailed questionnaire, the 1969 followup study of the college and career plans of Jewish youth surveys a sample of 1,125 young Jewish adults in their mid-20s who took part in a 1961 study of the same nature in which 6,600 participated. The study found that most of the respondents believe that education will enable them to…

Jewish physicians' beliefs and practices regarding religion/spirituality in the clinical encounter.

PubMed

Stern, Robert M; Rasinski, Kenneth A; Curlin, Farr A

2011-12-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices.

Jewish Physicians' Beliefs and Practices Regarding Religion/Spirituality in the Clinical Encounter

PubMed Central

Stern, Robert M.; Rasinski, Kenneth A.; Curlin, Farr A.

2013-01-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices. PMID:21706257

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.

PubMed

Mulle, Jennifer Gladys; Pulver, Ann E; McGrath, John A; Wolyniec, Paula S; Dodd, Anne F; Cutler, David J; Sebat, Jonathan; Malhotra, Dheeraj; Nestadt, Gerald; Conrad, Donald F; Hurles, Matthew; Barnes, Chris P; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F; Gejman, Pablo V; Sanders, Alan R; Duan, Jubao; Mitchell, Adele A; Peter, Inga; Sklar, Pamela; O'Dushlaine, Colm T; Grozeva, Detelina; O'Donovan, Michael C; Owen, Michael J; Hultman, Christina M; Kähler, Anna K; Sullivan, Patrick F; Kirov, George; Warren, Stephen T

2014-03-01

Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome. We assayed an Ashkenazi Jewish cohort of 554 SZ cases and 1014 controls for genome-wide CNV. An excess of large rare and de novo CNVs were observed, including a 1.4 Mb duplication on chromosome 7q11.23 identified in two unrelated patients. To test whether this 7q11.23 duplication is also associated with SZ, we obtained data for 14,387 SZ cases and 28,139 controls from seven additional studies with high-resolution genome-wide CNV detection. We performed a meta-analysis, correcting for study population of origin, to assess whether the duplication is associated with SZ. We found duplications at 7q11.23 in 11 of 14,387 SZ cases with only 1 in 28,139 control subjects (unadjusted odds ratio 21.52, 95% confidence interval: 3.13-922.6, p value 5.5 × 10(-5); adjusted odds ratio 10.8, 95% confidence interval: 1.46-79.62, p value .007). Of three SZ duplication carriers with detailed retrospective data, all showed social anxiety and language delay premorbid to SZ onset, consistent with both human studies and animal models of the 7q11.23 duplication. We have identified a new CNV associated with SZ. Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Structured mating: Patterns and implications

PubMed Central

Sebro, Ronnie; Peloso, Gina M.; Risch, Neil J.

2017-01-01

Genetic similarity of spouses can reflect factors influencing mate choice, such as physical/behavioral characteristics, and patterns of social endogamy. Spouse correlations for both genetic ancestry and measured traits may impact genotype distributions (Hardy Weinberg and linkage equilibrium), and therefore genetic association studies. Here we evaluate white spouse-pairs from the Framingham Heart Study (FHS) original and offspring cohorts (N = 124 and 755, respectively) to explore spousal genetic similarity and its consequences. Two principal components (PCs) of the genome-wide association (GWA) data were identified, with the first (PC1) delineating clines of Northern/Western to Southern European ancestry and the second (PC2) delineating clines of Ashkenazi Jewish ancestry. In the original (older) cohort, there was a striking positive correlation between the spouses in PC1 (r = 0.73, P = 3x10-22) and also for PC2 (r = 0.80, P = 7x10-29). In the offspring cohort, the spouse correlations were lower but still highly significant for PC1 (r = 0.38, P = 7x10-28) and for PC2 (r = 0.45, P = 2x10-39). We observed significant Hardy-Weinberg disequilibrium for single nucleotide polymorphisms (SNPs) loading heavily on PC1 and PC2 across 3 generations, and also significant linkage disequilibrium between unlinked SNPs; both decreased with time, consistent with reduced ancestral endogamy over generations and congruent with theoretical calculations. Ignoring ancestry, estimates of spouse kinship have a mean significantly greater than 0, and more so in the earlier generations. Adjusting kinship estimates for genetic ancestry through the use of PCs led to a mean spouse kinship not different from 0, demonstrating that spouse genetic similarity could be fully attributed to ancestral assortative mating. These findings also have significance for studies of heritability that are based on distantly related individuals (kinship less than 0.05), as we also demonstrate the poor correlation of kinship estimates in that range when ancestry is or is not taken into account. PMID:28384154

Germline Missense Changes in the APC Gene and Their Relationship to Disease.

PubMed

Scott, Rodney J; Crooks, Renee; Rose, Lindy; Attia, John; Thakkinstian, Ammarin; Thomas, Lesley; Spigelman, Allan D; Meldrum, Cliff J

2004-05-15

Familial adenomatous polyposis (FAP) is characterized by the presence of hundreds to thousands of adenomas that carpet the entire colon and rectum. Nonsense and frameshift mutations in the adenomatous polyposis coli (APC) gene account for the majority of mutations identified to date and predispose primarily to the typical disease phenotype. Some APC mutations are associated with a milder form of the disease known as attenuated FAP. Virtually all mutations that have been described in the APC gene result in the formation of a premature stop codon and very little is known about missense mutations apart from a common Ashkenazi Jewish mutation (1307 K) and a British E1317Q missense change. The incidence of missense mutations in the APC gene has been underreported since the APC gene lends itself to analysis using an artificial transcription and translation assay known as the Protein Truncation Test (PTT) or the In Vitro Synthetic Protein assay (IVSP).In this report we have used denaturing high performance liquid chromatography to analyse the entire coding sequence of the APC gene to determine if a cohort of patients adhering to the diagnostic criteria of FAP to assess the frequency of missense mutations in the APC gene. Altogether 112 patients were studied and 22 missense mutations were identified. From the total of 22 missense changes, 13 were silent changes and the remaining 9 resulted in amino acid substitutions. One or more of these changes were identified multiple times in 62.5% of the population under study.The results reveal that missense mutations in the APC gene appear not to radically alter protein function but may be associated with more subtle processing of RNA transcripts which in turn could result in the expression of differentially spliced forms of the APC gene which may interfere with the functional activity of the APC protein.

Mechanisms and Treatment of Deployment-Related Lung Injury: Repair of the Injured Epithelium

DTIC Science & Technology

2017-10-01

effects of physical , chemical, and infectious stimuli on acute lung injury. Progress - We obtained local (National Jewish Health ) IACUC approval for...INVESTIGATOR: Gregory P. Downey, MD RECIPIENT: National Jewish Health Denver, CO 80206 REPORT DATE: October 2017 TYPE OF REPORT: Annual...ORGANIZATION NAME(S) AND ADDRESS(ES) . AND ADDRESS(ES) 8. PERFORMING ORGANIZATION REPORT NUMBER National Jewish Health 
 Denver, CO 80206 9

"Like a Distant Cousin": Bi-Cultural Negotiation as Key Perspective in Understanding the Evolving Relationship of Future Reform Rabbis with Israel and the Jewish People

ERIC Educational Resources Information Center

Muszkat-Barkan, Michal; Grant, Lisa D.

2015-01-01

This research explores the impact of a year studying in Israel on Hebrew Union College-Jewish Institute of Religion (HUC-JIR) rabbinical students' emotional connection toward and knowledge about the State of Israel and the Jewish People. We want to better understand the students' beliefs, ideas, and behaviors that emerge from their experience…

Nurturing a Society of Learners: Suggestions from Traditional Jewish Pedagogy for Medical Education.

PubMed

Urkin, Jacob; Fram, Edward; Jotkowitz, Allen; Naimer, Sody

2017-07-01

Historically speaking, in many societies a select few carried the burden of preserving and transferring knowledge. While modern society has broadened the scope of education, this is not enough in the medical sciences. We must ensure that all those who pursue a career in medicine become life-long learners who will grow and contribute well beyond their years in medical school. In considering how to attain this goal, we were intrigued by the similarities between generations-old wisdom of teaching and learning methods in Jewish culture and modern educational principles. Both aim to nurture a culture of learners. Our objective was to parallel the methodologies, pedagogic directives, and demands made of students in the Jewish tradition, to the principles used in medical education today. We surveyed the traditional Jewish culture of teaching and learning. We compared it to modern medical teaching methods and looked to see what lessons might be gleaned. In the traditional Jewish community, life is focused on education, and producing "learners" is the ideal. This culture of learning was developed over the generations and many educational methods are similar to modern ones. Some of the pedagogic principles developed successfully in Jewish society should be considered for adaptation in medical education. Further comparative research could help to expand the ways in which we teach medicine.

Age, gender and risk factor disparities in first-stroke Jewish and Arab patients in Israel undergoing rehabilitation.

PubMed

Greenberg, Elina; Treger, Iuly; Schwarz, Juliana

2011-11-01

Little is known of the risk factor disparities in first stroke among Jewish and Arab patients undergoing rehabilitation in Israel. To investigate the age, gender and risk factor disparities in first stroke among Jewish (immigrant and non-immigrant) and Arab patients undergoing rehabilitation and to compare the prevalence and odds ratio of stroke risk factors in these patients. The database of the Department of Neurological Rehabilitation C at Loewenstein Rehabilitation Center was used to investigate first ischemic and hemorrhagic stroke patients admitted for hospital rehabilitation over a 15 year period, January 1993 to December 2008. Particular attention was paid to age, gender and risk factor disparities. The 2000 patients with first stroke who were included in the study were grouped as Jewish (immigrant and non-immigrant) orArab; there were 237 Arabs, 370 non-immigrant Jews and 1393 immigrant Jews. A high percentage of Arab patients were found to have hypertension and diabetes mellitus, while a high percentage of Jewish immigrants had stenosis of the internal carotid artery. The study demonstrated some differences in the effect of risk factors between the groups. It may be important to address such differences when developing stroke preventative strategies in this population of Jewish and Arab stroke survivors in Israel.

Developing an Interfaith Trialogue: Creating Multi-Cultural Study Abroad Experiences That Enhance a Community's Understanding and Awareness of the Christian, Jewish, and Muslim Faith Traditions through the Narrative Dimensions of Transformative Learning.

ERIC Educational Resources Information Center

Sanders, Kathryn A.; Morgan, Marilon

In 1998, the Tulsa (Oklahoma) Metropolitan Ministry's Task Force on Religious Understanding, in partnership with the National Conference for Community and Justice, the Jewish Federation of Tulsa, and three local universities, began planning an interfaith study abroad experience in Israel for adult learners within the Christian, Jewish, and Muslim…

"Text-Books and Textpeople" (A. J. Heschel): What Is the Role of the Mehanekh in the Jewish Secular High School in Israel, and What Is the Place of Jewish Texts within That Role?

ERIC Educational Resources Information Center

Sela Kol, Aviva Helena

2011-01-01

My study concerns the teacher knowledge of "mehankhim," teachers in Israeli high schools entrusted to promote students' moral, civic, and social growth. It examines two "mehankhim" from a secular Israeli high school who participated in a long-term professional development program in secular Jewish education, centered by…

Gender, Nationalism, and Resistance: Nahla Abdo and the Critical Politics of Palestine

ERIC Educational Resources Information Center

Habib, Jasmin

2008-01-01

Dr. Nahla Abdo is a Professor of Sociology at Carleton University in Ottawa. Among her many achievements her publications include "Women and Citizenship in Israel: Comparing Palestinian, Mizrahi and Ashkenazi Women," (in press); "Women and Poverty in the Palestinian Territories," and UNESCO/Palestinian Women's Research and …

Domestic Violence in Arab Society: A Comparison of Arab and Jewish Women in Shelters in Israel.

PubMed

Ben-Porat, Anat; Levy, Drorit; Kattoura, Ola; Dekel, Rachel; Itzhaky, Haya

2017-09-01

The aim of the current study was to address a gap in the literature by determining prevalence, specific types of violence, and risk factors of intimate partner violence (IPV) among Israeli born Arab women compared with Israeli born Jewish women. The following measures were compared: demographic and socioeconomic measures; measures relating to the characteristics of the violence, that is, the three types of violence (physical, emotional, and verbally threatening), sense of danger, and history of violence in childhood; family support levels; and perpetrator characteristics. The sample consisted of 154 Israeli born Arab women and 149 Israeli born Jewish women who were staying in shelters for victims of domestic violence in Israel. A comparison of the two groups revealed that the Arab women were exposed to more physical violence and received less family support than did their Jewish counterparts. The proportion of Arab perpetrators with access to weapons was higher than that of Jewish perpetrators, whereas the proportion of police complaints against Jewish perpetrators was higher than that against Arab perpetrators. Arab women were also younger, less educated, and less a part of the workforce than Jewish women. The contribution of the woman's age to the variance in levels of physical violence was negative and significant. In contrast, the contribution of her sense of danger, and various perpetrator characteristics, was positive. Moreover, the interaction between sense of danger × ethnicity contributed significantly to levels of violence. This study extends the existing knowledge about the contribution of ethnicity as one of many variables that play a role in the lives of women who are victims of domestic violence and highlights the need to develop, in particular, unique individual, community, and social interventions for Arab women in Israeli society.

Soaring on the wings of the wind: Freud, Jews and Judaism.

PubMed

Kaplan, Robert

2009-08-01

This paper looks at Freud's Jewish identity in the context of the Jewish experience in Eastern and Central Europe after 1800, using his family history and significant figures in his life as illustration. Sigmund Freud's life as a Jew is deeply paradoxical, if not enigmatic. He mixed almost exclusively with Jews while living all his life in an anti-Semitic environment. Yet he eschewed Jewish ritual, referred to himself as a godless Jew and sought to make his movement acceptable to gentiles. At the end of his life, dismayed by the rising forces of nationalism, he accepted that he was in his heart a Jew "in spite of all efforts to be unprejudiced and impartial". The 18th century Haskalla (Jewish Enlightenment) was a form of rebellion against conformity and a means of escape from shtetl life. In this intense, entirely inward means of intellectual escape and revolt against authority, strongly tinged with sexual morality, we see the same tensions that were to manifest in the publication by a middle-aged Viennese neurologist of a truly revolutionary book to herald the new 20th century: The Interpretation of Dreams. Freud's life and work needs to be understood in the context of fin-de-siecle Vienna. Mitteleuropa, the cultural renaissance of Central Europe, resulted from the emancipation and urbanization of the burgeoning Jewish middle class, who adopted to the cosmopolitan environment more successfully than any other group. In this there is an extreme paradox: the Jewish success in Vienna was a tragedy of success. Freud, despite a deliberate attempt to play down his Jewish origins to deflect anti-Semitic attacks, is the most representative Jew of his time and his thinking and work represents the finest manifestation of the Litvak mentality.

Gay, Orthodox, and trembling: the rise of Jewish Orthodox gay consciousness, 1970s-2000s.

PubMed

Ariel, Yaakov

2007-01-01

In 2001, the documentary movie, Trembling Before God, was played in Jewish and gay film festivals around the world, provoking strong emotional reactions. Trembling Before God comprises interviews with Orthodox Jewish gay and lesbian persons who vividly and movingly describe their struggles to live their lives as observant Jewish people, being faithful at the same time to their sexual desires and their religious tradition. Almost all the people interviewed in the movie expressed mixed emotions: love towards their tradition and attachment to their community of faith, coupled with resentment against a community, which in their eyes failed to respond with understanding to their emotional needs, thus adding to their pain. This article aims to modify the picture portrayed in the movie. The dilemmas and struggles of gays and lesbians who live their lives in Orthodox Jewish communities are indeed real. Orthodox gays and lesbians experience a greater dissonance between their sexuality and the values of their community and therefore face more anxieties and inner turmoils than gays and lesbians who live in more permissive environments. The struggles of gay and lesbian Orthodox Jews, however, are not necessarily greater than those of gays and lesbians who live their lives in other conservative communities. In fact, while it is almost impossible to be a sexually active gay or lesbian and a practicing Southern Baptist, Seventh-Day Adventist, Jehovah's Witness, or Mormon, it is not impossible for gays and lesbians to live their lives in an Orthodox Jewish environment. Amazingly, since the 1970s, thousands of gays and lesbians have given up on liberal environments and joined the ranks of traditionalist Jewish congregations.

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry

PubMed Central

Davidson, Natalie R.; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L.; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19–33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so. PMID:27010569

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry.

PubMed

Waldman, Yedael Y; Biddanda, Arjun; Davidson, Natalie R; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19-33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so.

Talking ethics with strangers: a view from Jewish tradition.

PubMed

Newman, L E

1993-12-01

The work of H. Tristram Engelhardt provides an important set of reflections for bioethics in a secular context. Taking Engelhardt's work as its point of departure this article explores the challenges that Jewish ethicists face in contributing to bioethics in a secular context. The article explores how the Jewish tradition can address issues in bioethics in ways that are true to its tradition and at the same time accessible and relevant to "moral strangers" in a secular society.

Childbirth customs in Orthodox Jewish traditions.

PubMed Central

Bodo, K.; Gibson, N.

1999-01-01

OBJECTIVE: To describe cultural beliefs of Orthodox Jewish families regarding childbirth in order to help family physicians enhance the quality and sensitivity of their care. QUALITY OF EVIDENCE: These findings were based on a review of the literature searched in MEDLINE (1966 to present), HEALTHSTAR (1975 to present), EMBASE (1988 to present), and Social Science Abstracts (1984 to present). Interviews with several members of the Orthodox Jewish community in Edmonton, Alta, and Vancouver, BC, were conducted to determine the accuracy of the information presented and the relevance of the paper to the current state of health care delivery from the recipients' point of view. MAIN MESSAGE: Customs and practices surrounding childbirth in the Orthodox Jewish tradition differ in several practical respects from expectations and practices within the Canadian health care system. The information presented was deemed relevant and accurate by those interviewed, and the subject matter was considered to be important for improving communication between patients and physicians. Improved communication and recognition of these differences can improve the quality of health care provided to these patients. CONCLUSIONS: Misunderstandings rooted in different cultural views of childbirth and the events surrounding it can adversely affect health care provided to women in the Orthodox Jewish community in Canada. A basic understanding of the cultural foundations of potential misunderstandings will help Canadian physicians provide effective health care to Orthodox Jewish women. PMID:10099807

Perceptions of complementary medicine integration in supportive cancer care of Arabs and Jews in Israel: a cross-cultural study.

PubMed

Ben-Arye, Eran; Schiff, Elad; Silbermann, Michael; Agbarya, Abed; Bar-Sela, Gil

2015-05-01

There is a dearth of studies on how cultural background influences patients' attitudes and choices regarding complementary and traditional medicine (CTM) integration. To explore Arab and Jewish patients' perspectives regarding CTM use and its possible integration within conventional cancer care. This was a cross-cultural study. We developed a 27-item questionnaire that evaluates patients' perceptions regarding CTM integration in supportive cancer care. The questionnaire was administered to a convenience sample of patients receiving cancer care in community and hospital oncology centers. Of the 770 respondents (response rate 88%), 324 defined their religion as Muslim, Christian, or Druze (henceforth, regarded as Arabs) and 446 were Jews. Respondents in the two groups differed significantly in terms of age, gender, marital status, number of children, education, religiosity, and prevalence of cancer types (excluding breast cancer). Although Arab respondents reported less use of CTM for cancer-related outcomes (39.6% vs. 52.1%; P = 0.001), they expressed greater support than Jewish respondents for optional CTM consultation if provided within conventional oncology care (P < 0.0001). Respondents in both groups stated that their primary expectation from the oncologist concerning CTM was to participate in formulating a CTM treatment plan to be provided within the oncology department. Compared with Arab respondents, Jews expected CTM consultations to focus on improving daily functioning and coping, reducing chemotherapy side effects, and providing spiritual support. Although quality of life-related expectations are more pronounced among Jewish respondents, both groups share the expectation from their health care providers to be actively involved in construction of a tailored integrative CTM treatment plan. Copyright © 2015 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

Belonging and ‘Unbelonging’: Jewish refugee and survivor women in 1950s Britain

PubMed Central

Davis, Angela

2017-01-01

ABSTRACT 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. This article considers how these refugee and survivor women tried to find a place for themselves within 1950s Britain. Looking at their experiences of arrival, work and home, it reflects upon the discrimination and hostility they faced, and they ways they tried to deal with this. Finally it discusses what this meant for their sense of belonging or ‘unbelonging’. PMID:28190937

Carrier Screening

MedlinePlus

... most common in people of Eastern or Central European Jewish, French Canadian, and Cajun descent. But anyone ... most commonly affects people of Eastern and Central European Jewish, Cajun, and French Canadian descent, but it ...

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations.

PubMed

Ferragut, J F; Pereira, R; Castro, J A; Ramon, C; Nogueiro, I; Amorim, A; Picornell, A

2016-03-01

Population genetic data of 38 non-coding biallelic autosomal indels are reported for 466 individuals, representing six populations with Jewish ancestry (Ashkenazim, Mizrahim, Sephardim, North African, Chuetas and Bragança crypto-Jews). Intra-population diversity and forensic parameters values showed that this set of indels was highly informative for forensic applications in the Jewish populations studied. Genetic distance analysis demonstrated that this set of markers efficiently separates populations from different continents, but does not seem effective for molecular anthropology studies in Mediterranean region. Finally, it is important to highlight that although the genetic distances between Jewish populations were small, significant differences were observed for Chuetas and Bragança Jews, and therefore, specific databases must be used for these populations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

The centrality of guilt: working with ultra-orthodox Jewish patients in Israel.

PubMed

Hess, Esther

2014-09-01

The ultra-orthodox Jewish (Haredi) community in Israel is characterized by strict observance of the requirements of orthodox Jewish life. Psychoanalytic psychotherapy within this community brings us into contact with guilt as a central emotion throughout the therapeutic process. The exposure to new concepts, ways of thought and a previously unknown space, together with increased awareness of internal wishes and drives, are experienced as forbidden areas that arouse an awakening of conscience and a sense of guilt. The author's cases illustrate these conflicts.

Supplementary Schooling and the Law of Unanticipated Consequences: A Review Essay of Stuart Schoenfeld's "Folk Judaism, Elite Judaism and the Role of Bar Mitzvah in the Development of the Synagogue and Jewish School in America"

ERIC Educational Resources Information Center

Aron, Isa

2010-01-01

Stuart Schoenfeld's (1987) essay "Folk Judaism, Elite Judaism and the Role of Bar Mitzvah in the Development of the Synagogue and Jewish School in America" recounts how, in the 1930s and 40s, rabbis and Jewish educators banded together to impose attendance requirements on families that wanted to celebrate their sons' b'nei mitzvah in synagogues.…

Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses.

PubMed

Levin, M

1999-01-01

Screening for genetic disorders, particularly Tay-Sachs Disease, has been traditionally welcome by the Jewish community. I review the history of genetic screening among Jews and the views from the Jewish tradition on the subject, and then discuss ethical challenges of screening and the impact of historical memories upon future acceptance of screening programs. Some rational principles to guide future design of genetic screening programs among Jews are proposed.

Religion, genetics, and sexual orientation: the Jewish tradition.

PubMed

Davis, Dena S

2008-06-01

This paper probes the implications of a genetic basis for sexual orientation for traditional branches of Judaism, which are struggling with how accepting to be of noncelibate gays and lesbians in their communities. The paper looks at the current attitudes toward homosexuality across the different branches of Judaism; social and cultural factors that work against acceptance; attitudes toward science in Jewish culture; and the likelihood that scientific evidence that sexual orientation is at least partly genetically determined will influence Jewish scholars' and leaders' thinking on this issue.

Jews in America: Contributions to America, Relationship to Homeland, Integration into American Life, Retention of Ethnicity in America. Ethnic Heritage in America: Curriculum Materials in Elementary School Social Studies on Greeks, Jews, Lithuanians, Ukrainians.

ERIC Educational Resources Information Center

Chicago Consortium for Inter-Ethnic Curriculum Development, IL.

This ethnic heritage unit is about Jews in the United States. The first section presents basic facts, such as a map of Israel, map of Eastern Europe, facts about Israel, a bibliography about Jews, and a list of Jewish organizations in the United States. The second section discusses early Jewish settlement in North America, Jewish contributions to…

The influence of ethnicity, social class, and context on judgments about U.S. women.

PubMed

Lott, Bernice; Saxon, Susan

2002-08-01

In 2 studies, the authors investigated impression formation as influenced by category-based stereotypes associated with ethnicity and social class. The participants in Study I made judgments about 1 target woman, described as interested in running for office in the Parent Teacher Organization (PTO) of her children's school. The hypothetical woman was presented to the respondents along with her photograph and information about her ethnic background (Anglo-Saxon, Latina, or Jewish) and occupation (middle class or working class). In Study 2, the authors changed the context and presented a younger target woman (also varied by ethnicity and social class) to the respondents as the new girlfriend of their older brother or cousin. In both studies, judgments were assessed by the participants' responses to 45 bipolar adjectives that, in each case, yielded 8 component factors. In both hypothetical contexts, social class was a powerful trigger for a variety of negative expectations: With respect to ethnicity, the Latina women were judged to be more unsuitable for the job of PTO vice president than were the Anglo-Saxon or Jewish women. The authors discussed potential psychological and social consequences of such category-based judgments.

A man of his country and his time: Jewish influences on Lev Semionovich Vygotsky's world view.

PubMed

Kotik-Friedgut, Bella; Friedgut, Theodore H

2008-02-01

Lev Semionovich Vygotsky created the cultural-historical school of psychology, yet all too few of those writing about his work take into account the family, education, and cultural tradition from which he came. The authors contend that the Jewish nature of these elements was of some importance in forming his personality and his consciousness. The 1st part of the article traces his early upbringing, describes the Jewishness of his environment, notes 3 instances in which his "otherness" was imprinted on his consciousness, and points to the sources of his determination to forge a harmonious synthesis with his environment. The 2nd part examines his writings, both earlier journalistic and mature psychological, and points to evidence of the influence of his Jewish upbringing and environment on his work.

Differential adjustment of Ashkenazi versus Sephardi Jews to a forced relocation: the Israeli withdrawal from the Sinai.

PubMed

Steinglass, P; De-Nour, A K

1988-02-01

This report focuses on a set of findings regarding differential adjustment patterns of Ashkenazi (Western) versus Sephardi (Oriental) Jews when faced with a stressful life event. The event in question was the wholesale evacuation of the Israeli Sinai community of Ophira (Sharm-el-Sheik in Arabic) when the Sinai was handed over to Egyptian control in March 1982. Immediately prior to the evacuation, the authors went down to Ophira to carry out a study of patterns of psychosocial adjustment of community residents designed to assess the relationships between individual coping styles, personal network characteristics, levels of psychological distress, and adequacy of social adjustment. Data were collected from a sample of 66 adult civilian community residents (31 men; 35 women), a sample that by coincidence was composed of two reputedly quite different ethnic subgroups: Israeli-born Jews whose parents were of European origin; and "Oriental" Jews, i.e., immigrants from Moslem countries. This fortuitous mix allowed us to carry out the analyses exploring ethnic differences in adjustment and their possible causes that are to be presented in this paper.

Ratings of Essentialism for Eight Religious Identities.

PubMed

Toosi, Negin R; Ambady, Nalini

2011-01-01

As a social identity, religion is unique because it contains a spectrum of choice. In some religious communities, individuals are considered members by virtue of having parents of that background, and religion, culture, and ethnicity are closely intertwined. Other faith communities actively invite people of other backgrounds to join, expecting individuals to choose the religion that best fits their personal beliefs. These various methods of identification influence beliefs about the essentialist nature of religious identity. Essentialism is when social groups are considered to have deep, immutable, and inherent defining properties. In this study, college students (N=55) provided ratings of essentialism for eight religious identities: Atheist, Buddhist, Catholic, Hindu, Jewish, Muslim, Protestant, and Spiritual-but-not-religious. Significant differences in essentialism were found between the target groups. Results and implications for intergroup relations are discussed.

A comparison of Israeli Jewish and Arab women's birth perceptions.

PubMed

Halperin, Ofra; Sarid, O; Cwikel, J

2014-07-01

birth is a normal physiological process, but can also be experienced as a traumatic event. Israeli Jewish and Arab women share Israeli residency, citizenship, and universal access to the Israeli medical system. However, language, religion, values, customs, symbols, and lifestyle differ between the groups. to examine Israeli Arab and Jewish women's perceptions of their birth experience, and to assess the extent to which childbirth details and perceptions predict satisfaction with the birth experience and the extent of assessing the childbirth as traumatic. this study was conducted in two post partum units of two major public hospitals in the northern part of Israel. The sample included 171 respondents, including 115 Jewish Israeli and 56 Arab Israeli women who gave birth to their first (33%) or second (67%) child. Respondents described their childbirth experiences using a self-report questionnaire 24-48 hours after childbirth. the Arab women were much less likely to attend childbirth preparation classes than the Jewish women (5% versus 24%). Forty-three per cent of the respondents reported feeling helpless, and 68% reported feeling lack of control during childbirth. Twenty per cent of the women rated their childbirth experience as traumatic, a rate much lower than the rate of medical indicators of traumatic birth (39%). The rate of self-reported traumatic birth was significantly higher among the Arab women than among the Jewish women (32% versus 14%). A higher percentage of the Arab women reported being afraid during labour (χ(2)=4.97, p<.05), expressed fear for their newborn's safety (χ(2)=12.44, p<.001), and reported that the level of medical intervention was excessive in their opinion, as compared to the Jewish women (χ(2)=5.09, p<.05; χ(2)=7.33, p<.01). However, both the Arab and Jewish women reported similar numbers of medical interventions and levels of satisfaction with their medical treatment. despite universal access to the Israeli health care system, Arab Israeli women use fewer perinatal medical resources and subjectively report more birth trauma than Jewish Israeli women. Yet, they give birth in the same hospitals with the same practitioners and report similarly high levels of satisfaction with the medical services. Taking into account the fact that perceptions of the birth experience differ between ethno-cultural groups will enable professionals to better tailor intervention and support throughout childbirth in order to increase satisfaction and minimise trauma from the experience. © 2013 Published by Elsevier Ltd.

Developing a measure of cultural-, maturity-, or esteem-driven modesty among Jewish women.

PubMed

Andrews, Caryn Scheinberg

2014-01-01

Understanding modesty and how it relates to religiosity among Jewish women was relatively unexplained, and as part of a larger study, a measure was needed. The purpose of this article is to report on three studies which represent the three stages of instrument development of a measure of modesty among Jewish women, "Your Views of Modesty": (a) content/concept definition; (b) instrument development; and (c) evaluation of the psychometric properties of the instrument: reliability and validity. In Study I, Q methodology was used to define the domain and results suggesting that modesty has multidimensions. In Study II, an instrument was developed based on distinctive perspectives from each group or what was important and not so important. This formed a 25-item Likert scale. In Study III, a survey of 300 Jewish women revealed internal consistency estimates with Cronbach's alpha 0.92, indicating high degree of internal consistency reliability for "Your Views of Modesty." For construct validity, four factors were found explaining 55% of the variance of modesty: (a) religion-driven, (b) maturity-driven, (c) esteem-driven, and (d) public-based modesty was identified. "Your Views of Modesty" shows good evidence for reliability and validity in this Jewish population.

Hitler's Jewish Physicians.

PubMed

Weisz, George M

2014-07-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler.

[Infectious complications with herpes virus after ritual Jewish circumcision: a historical and cultural analysis].

PubMed

Gesundheit, Benjamin; Greenberg, David; Walfish, Shlomo; Dagan, Ron; Koren, Gideon; Malkin, David; Tendeler, Moshe David

2005-02-01

Ritual circumcision performed on eight-day-old male infants is rooted in the Bible and is discussed in the earliest Jewish sources. The practice has been observed across the generations in every Jewish community in Israel and the Diaspora. According to Jewish ritual, the mohel--the ritual circumcisor--amputates the foreskin and then folds back the membrane that lies beneath it. This is followed by metzitza--"suction"--a practice performed throughout the ages by mouth. Halakhic literature sets down strict rules regarding this surgical intervention in order to prevent medical complications for the newborn. Metzitza by mouth has been recognized as a risk factor in the transfer of infection from the mohel to the newborn. A recent study relates to eight infants who became infected with herpes virus as a result of the procedure. We shall review the halakhic literature in order to clarify the custom of metzitza by mouth and understand the principles underlying the controversy that surrounds it. The custom of metzitza by mouth has been the subject of extensive rabbinic discussion since the middle of the nineteenth century. A better understanding of the historical, social and cultural background of the issue might allow us to formulate alternatives to the practice. The metzitza controversy gave rise to a stimulating discussion in the rabbinic literature with diverse and conflicting opinions. We shall undertake a precise analysis of the rabbinic discussion and its historical and social background, and attempt to identify the ideological underpinnings of the various positions. Rabbinic literature is replete with cautionary measures to be observed when circumcising a newborn child. The halakhic disputes beginning in the middle of the nineteenth century reflect ideological considerations and objectives. Metzitza was performed throughout the generations by mouth because that was the recognized method of disinfection at the time. Beginning in the nineteenth century, medical and esthetic considerations have led to the abolishment of metzitza by mouth or to its performance by way of a swab or through a glass tube in order to prevent infection. Ideological tendentiousness is evident in both approaches: Should the medical risks of metzitza by mouth be overlooked and denied out of loyalty to ancient tradition, thus allowing the practice to be continued? Or should the recognition of such risks along with esthetic considerations lead to changes in halakhic thinking to perform the metzitza in a hygienic technique? Historically, the issue of metzitza by mouth has been a bone of contention between traditional outlook and modern halakhic thinking, which takes into consideration advances in medical knowledge. In light of the reports in the medical literature about complications in the wake of metzitza by mouth, some of the halakhic rulings regarding circumcision should be reconsidered. Clinically, it is important to raise the medical community's awareness of the phenomenon and treat infected infants accordingly.

Remembering More Jewish Physicians

PubMed Central

Weisz, George M.; Grzybowski, Andrzej

2016-01-01

The history of medicine has been an intriguing topic for both authors. The modern relevance of past discoveries led both authors to take a closer look at the lives and contributions of persecuted physicians. The Jewish physicians who died in the Holocaust stand out as a stark example of those who merit being remembered. Many made important contributions to medicine which remain relevant to this day. Hence, this paper reviews the lives and important contributions of two persecuted Jewish physicians: Arthur Kessler (1903–2000) and Bronislawa Fejgin (1883–1943). PMID:27487308

Lower lung cancer rates in Jewish smokers in Israel and the USA.

PubMed

Rennert, Gad; Kremer, Ran; Rennert, Hedy S; Wollner, Mira; Agbarya, Abed; Pinchev, Mila; Lejbkowicz, Flavio; Spitz, Margaret R; Muscat, Joshua E

2015-11-01

Lung cancer rates in Israeli Jews have remained stable over the last five decades and are much lower than in most developed countries despite high historical smoking rates. We compared lung cancer risk in Jews and non-Jews in Israel and in the United States. Data were derived from a population-based, case-control study in Israel (638 cases, 496 controls) to estimate lung cancer risk associated with smoking. Data were also acquired from a case-control study in the United States with information on religious affiliation (5,093 cases, 4,735 controls). Smoking was associated with lung cancer risk in all religion/gender groups in both studies. However, major differences in risk magnitude were noted between Jews and non-Jews; ever smoking was associated with a moderately elevated risk of lung cancer in Jewish men and women in Israel (OR = 4.61, 2.90-7.31 and OR = 2.10, 1.36-3.24, respectively), and in Jewish men and women in the United States (OR = 7.63, 5.34-10.90 and OR = 8.50, 5.94-12.17) but were significantly higher in Israeli non-Jewish men (OR = 12.96, 4.83-34.76) and US non-Jewish men and women (OR = 11.33, 9.09-14.12 and OR = 12.78, 10.45-15.63). A significant interaction between smoking and religion was evident in light, moderate and heavy male and female smokers. The differences in risk level between Israeli Jews and non-Jews could not be explained by lung cancer genetic risk variants which were identified in GWAS (genes in the CHRNA5, TERT and CLPTM1L regions). Data from the two studies support the notion of a reduced risk of lung cancer in Jewish compared to non-Jewish smokers in different areas of the world. © 2015 UICC.

3 CFR 8379 - Proclamation 8379 of May 12, 2009. Jewish American Heritage Month, 2009

Code of Federal Regulations, 2010 CFR

2010-01-01

... to pursue their own American dreams for more than 300 years. During some periods, Jews sought refuge... hardship and tenacious in following their dreams, Jewish Americans have surmounted the challenges that...

Gender identity, nationalism, and social action among Jewish and Arab women in Israel: redefining the social order?

PubMed

Moore, D

2000-01-01

In the study this article explores, the meaning of gender identity for religious and secular Jewish and Arab women in Israeli society is examined. The study focuses on how Israeli women, rank gender identity, relative to other identities like being Jewish/Arab, being Israeli/Palestinian, religious or secular, of a certain ethnic group, and political identity. It examines the characteristics of gender identity and the attitudes that are associated with it. The analysis shows that the hierarchies of identities are different for religious and secular Jewish and Arab women, and that this is related to having different sociopolitical attitudes (e.g., Women's social and political involvement, social obedience, social influence). Thus, the hierarchy of identities and the sociopolitical attitudes of religious women indicate a more consensual acceptance of the social order than the hierarchy of identities and the sociopolitical attitudes of secular women, especially among Arab women.

History of past sexual abuse in married observant Jewish women.

PubMed

Yehuda, Rachel; Friedman, Michelle; Rosenbaum, Talli Y; Labinsky, Ellen; Schmeidler, James

2007-11-01

The authors examined instances of past sexual abuse and related demographic characteristics in the self-reports of a select group of married observant Jewish women. Orthodox Jewish married women (N=380) ages 19 to 58 responded to advertisements asking them to complete an anonymous questionnaire about sexual experiences, including sexual abuse. Sexual abuse was reported by 26% of the respondents surveyed, with 16% reporting abuse occurring by the age of 13. More ultra-Orthodox Jews reported abuse than modern-Orthodox Jews. Women who were raised observant reported significantly less childhood sexual abuse than those who became observant later in life. Sexual abuse was associated with increased treatment-seeking for depression, marital counseling, or other emotional or psychological problems. While observant Jewish women live in a culture defined by a high degree of adherence to specific laws of conduct, including rules designed to regulate sexual contact, sexual abuse of various types still exists among them.

Interpreting Freud: the Yiddish philosophical journal Davke investigates a Jewish icon.

PubMed

Berger, Shlomo

2007-06-01

The Argentine-based Yiddish philosophical journal Davke functioned as a mediator between general European philosophy and Jewish philosophy. Its editor Shlomo Suskovich wished to introduce readers of Yiddish to the western tradition of philosophy and, at the same time, to show how Jewish thought contributed to abstract thinking. Through topical issues dedicated to central ideas or to giants among Jewish philosophers, particular knowledge could be successfully transmitted to the reading public. Sigmund Freud was honored with such a topical issue. In it the editor wished to show this Jew's contribution to basic philosophical contemplation rather than limit the discussion to his contributions in the field of psychology. In the central article of the issue on Freud, the editor emphasizes that all the articles in the issue, including those which deal with psychoanalysis, focus on Freud's importance to the world of ideas rather than just the world of medicine.

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population

PubMed Central

Tashi, Tsewang; Lorenzo, Felipe Ramos; Feusier, Julie Ellen; Mir, Hyder

2016-01-01

The Kashmiri population is an ethno-linguistic group that resides in the Kashmir Valley in northern India. A longstanding hypothesis is that this population derives ancestry from Jewish and/or Greek sources. There is historical and archaeological evidence of ancient Greek presence in India and Kashmir. Further, some historical accounts suggest ancient Hebrew ancestry as well. To date, it has not been determined whether signatures of Greek or Jewish admixture can be detected in the Kashmiri population. Using genome-wide genotyping and admixture detection methods, we determined there are no significant or substantial signs of Greek or Jewish admixture in modern-day Kashmiris. The ancestry of Kashmiri Tibetans was also determined, which showed signs of admixture with populations from northern India and west Eurasia. These results contribute to our understanding of the existing population structure in northern India and its surrounding geographical areas. PMID:27490348

The German-Jewish soldier: from participant to victim.

PubMed

Penslar, Derek

2011-01-01

The story of German-Jewish soldiers and veterans of World War I illustrates how, under circumstances of inclusion (even if incomplete) rather than vicious persecution, Jewish suffering in wartime, and with it the forms of collective memory and strategies for commemoration of the dead, could closely parallel, even intersect with, the suffering of Germans as a whole. To be sure, the points of intersection were accompanied by points of deflection. Even when Jews served, fought, suffered and died as German soldiers, their interpretations of the war experience, and their communities’ postwar memory and commemorative practices, differed from those of other Germans. In many ways, however, German-Jewish veterans suffered the aftermath of the war as did other Germans; they shared the prevailing fury over war guilt and reparations, and they retained a strong pride in their military service, a pride through which they interpreted the events of 1933–1945.

Freud's Jewish identity and psychoanalysis as a science.

PubMed

Richards, Arnold D

2014-12-01

Ludwik Fleck, the Polish philosopher of science, maintained that scientific discovery is influenced by social, political, historical, psychological, and personal factors. The determinants of Freud's Jewish identity are examined from this Fleckian perspective, as is the impact of that complex identity on his creation of psychoanalysis as a science. Three strands contributing to his Jewish identity are identified and explored: his commitment to the ideal of Bildung, the anti-Semitism of the times, and his "godlessness." Finally, the question is addressed of what it means that psychoanalysis was founded by a Jew. For Freud, psychoanalysis was a kind of liberation philosophy, an attempt to break free of his ethnic and religious inheritance. Yet it represented at the same time his ineradicable relationship with that inheritance. It encapsulated both the ambivalence of his Jewish identity and the creativity of his efforts to resolve it. © 2014 by the American Psychoanalytic Association.

Moral judgments about Jewish-Arab intergroup exclusion: The role of cultural identity and contact

PubMed Central

Brenick, Alaina; Killen, Melanie

2014-01-01

Prejudice and discrimination as justifications for social exclusion are often viewed as violations of the moral principles of welfare, justice, and equality but intergroup exclusion can also often be viewed as a necessary and legitimate means to maintain group identity and cohesion (Rutland, Killen, & Abrams, 2010). The current study was guided by the Social Reasoning Developmental perspective (Killen & Rutland, 2011) to examine the moral judgments of social exclusion encounters, and the degree to which cultural identity and actual contact with members of other cultural groups is related to social evaluations. Surprisingly, no research has examined how intergroup contact bears on moral judgments about Jewish-Arab encounters in the U.S. The present study surveyed 241 Jewish and 249 non-Arab/non-Jewish (comparison group) 14 and 17 year olds to assess their cultural identification, intergroup contact, and moral judgments regarding intergroup peer social exclusion situations between Jewish and Arab youth in peer, home, and community contexts. Participants overwhelmingly rejected exclusion of an outgroup member explicitly because of their group membership, though male and Jewish participants were more accepting of such exclusion and less accepting of including an outgroup member. Context effects emerged, and exclusion was rated as most acceptable in the community context and least acceptable in the peer context. Three factors of identity (i.e., exploration, commitment, and concern for relationships) were explored. Generally, higher identity commitment and lower identity concern for relationships were related to more inclusive evaluations. Interactions between the identity factors and intergroup contact and cultural group, however, differentially predicted evaluations of intergroup exclusion. PMID:24188040

Hitler’s Jewish Physicians

PubMed Central

Weisz, George M.

2014-01-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler. PMID:25120923

3 CFR 8813 - Proclamation 8813 of May 2, 2012. Jewish American Heritage Month, 2012

Code of Federal Regulations, 2013 CFR

2013-01-01

...; yet, through every obstacle, generations carried with them the deep conviction that a better future... upon all Americans to visit www.JewishHeritageMonth.gov to learn more about the heritage and...

Marx and the Kabbalah: Aaron Shemuel Lieberman's Materialist Interpretation of Jewish History.

PubMed

Stern, Eliyahu

2018-01-01

This essay addresses the reception of Karl Marx's writings among Russian Jewish revolutionaries in the 1870s. It explores the way Aaron Shemuel Lieberman (1843-1880), known as "the father of Jewish socialism," interpreted Marx through a kabbalistic prism. It argues that Jews were attracted to Marx in part because of the overlaps between historical materialism and certain strands of the kabbalistic tradition. It also sheds light on the early reception of Marx and the way his theory of revolution was reinterpreted to reflect the unique socio-economic conditions of the Russian Empire.

Inching towards wholeness: C.G. Jung and his relationship to Judaism.

PubMed

Zemmelman, Steve

2017-04-01

The evolution of Jung's relationship with Judaism is interpreted as reflecting aspects of the individuation journey over the course of a long life. The progress and limitations of his public positions and personal relationships are explored through his published work and correspondence. Perspectives from relational psychoanalysis and Jewish philosophy are used to amplify Jung's understanding of Jewish, and specifically Kabbalistic, text and image. Dimensions of the author's own journey toward greater acceptance of his own Jewish soul is also considered, along with the wider contemporary relevance of these themes. © 2017, The Society of Analytical Psychology.

The Jewish child, adolescent, and family.

PubMed

Rube, David M; Kibel, Rabbi Nechemiah

2004-01-01

This brief review addresses the history, beliefs, and practices of Jewish families that have implications for clinical management of the problems and disorders of children and adolescents. It focuses primarily on the problems of the Orthodox family due, in part, to the limitations of space. There remains, however, little doubt that the clinician must be aware of the impact that Jewish heritage may have on the clinical issues at hand. This impact is significant whether the worldview of the family is characterized by strict Orthodoxy or is primarily that of an ethnic identification with less concern for belief and practice.

Legends about Legends: Abraham Eleazar's Adaptation of Nicolas Flamel.

PubMed

Priesner, Claus

2016-02-01

This paper explores the relationship between three illustrated alchemical treatises, all of which are associated with Jewish adepts: the famous Le Livre des figures hieroglyphiques attributed to Nicolas Flamel, and two treatises published in 1735 in Erfurt-the Uraltes Chymisches Werckh and the Donum Dei. The Werckh is supposedly written by Rabbi Abraham Eleazar, while the Donum Dei is attributed to an ancient alchemist-cabalist, Rabbi Samuel Baruch. I argue that these authors are fictitious, and that both works were in fact written in the early eighteenth century by their supposed editor, the probably pseudonymous Julius Gervasius. Gervasius connects the Werckh with the legend of Nicolas Flamel by suggesting that it is based on the original, Jewish manuscript which helped Flamel to find the Stone of the Sages. Gervasius used various strategies to confer a sense of Jewish "authenticity" on these works, borrowing from contemporary (non-Jewish) perceptions of Jewish ritual, Hebrew language, and Christian Cabala. The Werckh also borrows and adapts a sequence of allegorical illustrations from those in pseudo-Flamel's Livre, and I compare the two sets of figures and, where possible, interpret them. I conclude that the later works in fact teach us far more about the state of alchemy in the seventeenth and eighteenth centuries than they do about either medieval alchemy or Judaism.

Through the Looking Glass: The Role of Ethnicity and Affiliation in Responses to Terrorism in the Media

PubMed Central

Shoshani, Anat; Slone, Michelle

2016-01-01

This study examined whether attitudinal and emotional responses to broadcasts of images of terrorist events differ according to ethnic group (Jewish and Arab Israelis) and outgroup affiliation during an intense wave of terrorism that occurred in Israel during 2015. Participants were 118 Jewish and 110 Arab-Israelis adults randomly allocated to a terrorism or criminal violence television broadcast. State anxiety, state anger, stereotypes, and negative attitudes toward an adversary were examined prior and subsequent to the media exposure. Findings showed significant increases in anxiety, anger, stereotypes, and negative adversary perceptions in the terrorism exposure group compared to only anxiety increases in the criminal violence exposure. In the terrorism exposure group, Jewish participants showed greater increases in negative adversary perceptions of the Palestinians than Arab Israeli participants, but both groups showed similar significant increases in levels of anxiety and anger. Exposure to broadcasts of terrorism increased willingness to negotiate with the adversary among the Arab participants, but not among the Jewish participants. In the terrorism exposure group, both Jewish and Arab Israelis with high affiliation with the Palestinian cause showed less increases in stereotypes than those with low affiliation. Findings emphasize the role of ethnicity and outgroup affiliation in responses to media exposure to terrorism images. PMID:28018258

Through the Looking Glass: The Role of Ethnicity and Affiliation in Responses to Terrorism in the Media.

PubMed

Shoshani, Anat; Slone, Michelle

2016-01-01

This study examined whether attitudinal and emotional responses to broadcasts of images of terrorist events differ according to ethnic group (Jewish and Arab Israelis) and outgroup affiliation during an intense wave of terrorism that occurred in Israel during 2015. Participants were 118 Jewish and 110 Arab-Israelis adults randomly allocated to a terrorism or criminal violence television broadcast. State anxiety, state anger, stereotypes, and negative attitudes toward an adversary were examined prior and subsequent to the media exposure. Findings showed significant increases in anxiety, anger, stereotypes, and negative adversary perceptions in the terrorism exposure group compared to only anxiety increases in the criminal violence exposure. In the terrorism exposure group, Jewish participants showed greater increases in negative adversary perceptions of the Palestinians than Arab Israeli participants, but both groups showed similar significant increases in levels of anxiety and anger. Exposure to broadcasts of terrorism increased willingness to negotiate with the adversary among the Arab participants, but not among the Jewish participants. In the terrorism exposure group, both Jewish and Arab Israelis with high affiliation with the Palestinian cause showed less increases in stereotypes than those with low affiliation. Findings emphasize the role of ethnicity and outgroup affiliation in responses to media exposure to terrorism images.

Six Values Never to Silence: Jewish Perspectives on Nazi Medical Professionalism

PubMed Central

Kolman, Jacob M.; Miller, Susan M.

2018-01-01

An ideological case study based on medical profession norms during the Third Reich will be used to exemplify the importance of diversity in the manifestations of professional ethics. The German professional medical community banned their Jewish colleagues from treating German citizens. This included legally mandated employment discrimination and outright censure which led to a professional ethic devoid of diverse voices. While the escalation to the T-4 program and medicalized genocide was influenced by many causes, the intentional, ethnocentric-based exclusion of voices was an important contributing element to the chronicled degradation of societal mores. For illustration, six core Jewish values—life, peace, justice, mercy, scholarship, and sincerity of intention—will be detailed for their potential to inspire health-care professionals to defend and protect minorities and for readers to think critically about the role of medical professionalism in Third Reich society. The Jewish teachings highlight the inherent professional obligations physicians have toward their patients in contrast to the Third Reich’s corruption of patient-centered professionalism. More fundamentally, juxtaposing Jewish and Nazi teachings exposes the loss of perspective when a profession’s identity spurns diversity. To ensure respect for persons in all vulnerable minorities, the first step is addressing professional inclusion of minority voices. PMID:29406846

Intention of Mothers in Israel to Vaccinate their Sons against the Human Papilloma Virus.

PubMed

Ben Natan, Merav; Midlej, Kareem; Mitelman, Olga; Vafiliev, Katya

This study investigated the intention of mothers in Israel to vaccinate their sons against HPV, using the Health Belief Model (HBM) as a framework, while comparing between Arab and Jewish mothers. The study has a quantitative cross-sectional design. A convenience sample of 200 Jewish and Arab mothers of boys aged 5-18 completed a questionnaire based on the HBM. The research findings indicate that only 14% of the mothers, constituting mostly Arab mothers, vaccinated their sons against HPV. Moreover, mothers showed a moderate level of intention to vaccinate their sons. This level was similar among Arab and Jewish mothers. However, the health beliefs of Jewish and Arab mothers differed. The HBM was found to explain 68% of mothers' intention to vaccinate their sons against HPV, and the perceived benefits of the vaccine were the factor most affecting this intention. Although mothers' health beliefs concerning vaccinating their sons against HPV may vary between sectors, the HBM can be used to explain what motivates mothers to vaccinate their sons. The research findings can assist in designing a national project among mothers of boys aimed at raising HPV vaccination rates, in both the Jewish and the Arab sector. Copyright © 2017 Elsevier Inc. All rights reserved.

Jewish views on abortion.

PubMed

Jakobovits, I

1968-01-01

In Jewish law right and wrong, good and evil, are absolute values which transcend time, place, and environment. They defy definition by human intuition or expediency. Jewish law derives from the Divine revelation at Mount Sinai as expounded by sages faithful to, and authorized by, its writ. The Talmud rules that if a woman is in hard travail, and her life must be saved, the child must be aborted and extracted. The mother's life comes first. The fetus is not a human life until it is born. But 19th century Rabbinical works state that it is immoral to destroy a monster child. Modern rabbis are unanimous in condemning abortion, feticide, or infanticide as an unconscionable attack on human life. However, Jewish law allows abortion if the pregnancy will cause severe psychological damage to the mother. No civilized society could survive without laws which occasionally cause some suffering or personal anguish. One human life is worth a million lives, because each life is infinite in value. In cases of rape or incest Jewish law still does not sanction abortion. Man's procreative responsibilities are serious and carry rights and obligations which would be upset by liberalized abortion laws. If a person kills a person who is mortally wounded, the killer is guilty of a moral offense.

Ratings of Essentialism for Eight Religious Identities

PubMed Central

Toosi, Negin R.; Ambady, Nalini

2010-01-01

As a social identity, religion is unique because it contains a spectrum of choice. In some religious communities, individuals are considered members by virtue of having parents of that background, and religion, culture, and ethnicity are closely intertwined. Other faith communities actively invite people of other backgrounds to join, expecting individuals to choose the religion that best fits their personal beliefs. These various methods of identification influence beliefs about the essentialist nature of religious identity. Essentialism is when social groups are considered to have deep, immutable, and inherent defining properties. In this study, college students (N=55) provided ratings of essentialism for eight religious identities: Atheist, Buddhist, Catholic, Hindu, Jewish, Muslim, Protestant, and Spiritual-but-not-religious. Significant differences in essentialism were found between the target groups. Results and implications for intergroup relations are discussed. PMID:21572550

Adolescents' Attitudes toward Women's Roles: A Comparison between Israeli Jews and Arabs.

ERIC Educational Resources Information Center

Seginer, Rachel; And Others

1990-01-01

Male and female Arab and Jewish private high school students in Israel were questioned on their attitudes toward women's roles. Finds that ambitious Arab females may experience less support from their male peers than may Jewish females. (DM)

Excoriation (skin-picking) disorder in adults: a cross-cultural survey of Israeli Jewish and Arab samples.

PubMed

Leibovici, Vera; Koran, Lorrin M; Murad, Sari; Siam, Ihab; Odlaug, Brian L; Mandelkorn, Uri; Feldman-Weisz, Vera; Keuthen, Nancy J

2015-04-01

We sought to estimate the lifetime prevalence of Excoriation (Skin-Picking) Disorder (SPD) in the Israeli adult population as a whole and compare SPD prevalence in the Jewish and Arab communities. We also explored demographic, medical and psychological correlates of SPD diagnosis. Questionnaires and scales screening for SPD, and assessing the severity of perceived stress, depression, obsessive-compulsive disorder (OCD), body dysmorphic disorder (BDD), alcohol use, illicit drug use, and medical disorders were completed in a sample of 2145 adults attending medical settings. The lifetime prevalence of SPD was 5.4% in the total sample; it did not differ between genders or within Jewish and Arab subsamples. Severity of depression (p<0.001), OCD (p<0.001) and perceived stress (p=<0.001) were greater in the SPD positive sample. Similarly, diagnoses of BDD (p=0.02) and generalized anxiety (p=0.03) were significantly more common in the SPD-positive respondents. Alcohol use and illicit substance use were significantly more common among SPD positive respondents in the total sample (both p's=0.01) and the Jewish subsample (p=0.03 and p=0.02, respectively). Hypothyroidism was more prevalent in the SPD-positive Jewish subsample (p=0.02). In the total sample, diabetes mellitus was more common in women than in men (p=0.04). Lifetime SPD appears to be relatively common in Israeli adults and associated with other mental disorders. Differences in the self-reported medical and psychiatric comorbidities between the Jewish and Arab subsamples suggest the possibility of cross-cultural variation in the correlates of this disorder. Copyright © 2014 Elsevier Inc. All rights reserved.

Differences in prevalence of parasites in stool samples between three distinct ethnic pediatric populations in southern Israel, 2007-2011.

PubMed

Ben-Shimol, Shalom; Sagi, Orli; Greenberg, David

2014-04-01

Intestinal parasites cause significant morbidity worldwide, particularly in developing populations. At least three pediatric populations reside in southern Israel: the Bedouin population, the general Jewish population and Jewish children of Ethiopian origin. Our aim was to compare intestinal parasite prevalence between the three pediatric populations in southern Israel. This is a retrospective, laboratory, population-based surveillance. Most ova and parasite (O&P) tests in southern Israel (hospital and community obtained) are performed by the hospital parasitology laboratory. All pediatric stool O&P tests examined by the hospital laboratory between 2007 and 2011 were included. Overall, 45,978 samples were examined; 27,354, 16,969 and 1655 from Bedouin, non-Ethiopian Jewish and Ethiopian children, respectively. 16,317 parasites were identified in 12,325 (26.8%) positive samples. Total prevalences were 36%, 11% and 46% for Bedouin, non-Ethiopian Jewish and Ethiopian children, respectively. Blastocystis hominis, Giardia lamblia and Entamoeba species were the most common parasites identified, constituting ≥80% of positive samples in all groups. Hymenolepis nana was rarely identified in non-Ethiopian Jewish children (0.04% of isolates compared with 2.6% and 0.5% in Bedouin and Ethiopian children, respectively). Other helminths, excluding H. nana and Enterobius vermicularis, were identified almost exclusively in Ethiopian children ≥5years of age. In conclusion, the Bedouin and Ethiopian children were characterized by higher parasite prevalence in stool, compared with the non-Ethiopian Jewish children, probably reflecting higher intestinal parasitic disease rates. Certain helminthic infections were identified almost exclusively in the Ethiopian children. These differences may be associated with lifestyle differences between the three populations. © 2013.

Social Inclusion of Children With Down Syndrome: Jewish and Muslim Mothers' Knowledge, Attitudes, Beliefs, and Behavioral Intentions.

PubMed

Barnoy, Sivia; Biton, Anna; Itzhaki, Michal

The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers. Nearly all the Jewish mothers (93.7%) and about half the Muslim mothers (52.8%) had performed screening tests for DS during their pregnancy. All mothers displayed low knowledge level about DS. Being Jewish (t=2.89; p=0.005) and holding more positive beliefs (t=3.39; p=0.001) were associated with a higher intention to socially integrate children with DS. Significant positive correlations were found between beliefs and attitudes (r=0.65; p<0.001) and between attitudes and intention to socially integrate children with DS (r=0.39; p<0.001). This study shows that Jewish and Muslim mothers' beliefs and attitudes towards social inclusion of children with DS are quite positive and the intention to integrate children with DS in the family, with children without disabilities, and in the mainstream school system is high. However, their level of knowledge about DS is low. Nurses, as a critical source of information about DS, should develop an ethno-cultural sensitivity to diverse populations in order to influence attitudes and beliefs regarding the social integration of children with DS. Copyright © 2017 Elsevier Inc. All rights reserved.

Experiential learning and values education at a school youth camp: Maintaining Jewish culture and heritage

NASA Astrophysics Data System (ADS)

Gross, Zehavit; Rutland, Suzanne D.

2017-02-01

In our post-modern, globalised world, there is a risk of unique cultural heritages being lost. This loss contributes to the detriment of civilization, because individuals need to be rooted in their own specific identity in order to actively participate in community life. This article discusses a longitudinal case study of the efforts being made by Australian Jewish schools to maintain Jewish heritage through annual experiential religious education camps, coordinated in a programme called Counterpoint. The researchers' aim was to analyse how a school youth camp can serve as a site for socialisation and education into a cultural and religious heritage through experiential learning and informal education. During research trips which took place over several years, interviews enabling insights into the process of experiential education were conducted with a total of three different Directors of Informal Jewish Education, two Jewish Studies heads, five participating teachers, seven youth leaders, as well as seven student focus groups. In their analysis of the semi-structured interviews, the authors of this article employed a grounded theory approach using a constant comparative method, which enabled a more nuanced understanding of the main phenomenon investigated. Over the years, they were able to observe two philosophical approaches, one of which focused more on socialisation, with immersion into experience, while the other focused on education, with immersion into Jewish knowledge. Their findings reveal that some educators aim to "transmit" knowledge through "evocation", with the students involved in active learning; while others focus more on students' "acquisition" of knowledge through transmission. Experiential learning activities were found to be more meaningful and powerful if they combined both approaches, leading to growth.

Creating student sleuths: how a team of graduate students helped solve an outbreak of Salmonella Heidelberg infections associated with kosher broiled chicken livers.

PubMed

Hanson, Heather; Hancock, W Thane; Harrison, Cassandra; Kornstein, Laura; Waechter, HaeNa; Reddy, Vasudha; Luker, John; Malavet, Michelle; Huth, Paula; Gieraltowski, Laura; Balter, Sharon

2014-08-01

Since 2009, the New York City Department of Health and Mental Hygiene (DOHMH) has received FoodCORE funding to hire graduate students to conduct in-depth food exposure interviews of salmonellosis case patients. In 2011, an increase in the number of Salmonella Heidelberg infections with pulsed-field gel electrophoresis Xba I pattern JF6X01.0022 among observant Jewish communities in New York and New Jersey was investigated. As this pattern is common nationwide, some cases identified were not associated with the outbreak. To reduce the number of background cases, DOHMH focused on the community initially identified in the outbreak and defined a case as a person infected with the outbreak strain of Salmonella Heidelberg with illness onset from 1 April to 17 November 2011 and who consumed a kosher diet, spoke Yiddish, or self-identified as Jewish. Nationally, 190 individuals were infected with the outbreak strain of Salmonella Heidelberg; 63 New York City residents met the DOHMH case definition. In October 2011, the graduate students (Team Salmonella) interviewed three case patients who reported eating broiled chicken livers. Laboratory testing of chicken liver samples revealed the outbreak strain of Salmonella Heidelberg. Although they were only partially cooked, the livers appeared fully cooked, and consumers and retail establishment food handlers did not cook them thoroughly before eating or using them in a ready-to-eat spread. This investigation highlighted the need to prevent further illnesses from partially cooked chicken products. Removing background cases helped to focus the investigation. Training graduate students to collect exposure information can be a highly effective model for conducting foodborne disease surveillance and outbreak investigations for local and state departments of public health.

Adolescents Facing the Future: Cultural and Sociopolitical Perspectives.

ERIC Educational Resources Information Center

Seginer, Rachel

1988-01-01

Analysis of questionnaires completed by 228 Israeli high school students reveals that, for Jewish adolescents, the future is less salient than it is for Arab adolescents; Jewish adolescents express fewer concerns about their education, career, and collective issues than do their Arab counterparts. (BJV)

Introducing a brief measure of cultural and religious identification in American Jewish identity.

PubMed

Friedlander, Myrna L; Friedman, Michelle L; Miller, Matthew J; Ellis, Michael V; Friedlander, Lee K; Mikhaylov, Vadim G

2010-07-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed the initial AJIS and various measures of ethnic identity, collective self-esteem, and religiosity. Using confirmatory factor analyses, the authors selected and cross-validated 33 items that loaded highly and differentially on the 2 theorized latent factors. Study 3 assessed the AJIS's short-term stability and its relation to social desirability. Tests of reliability and construct validity provided initial psychometric support for the measure and confirmed the theorized primary salience of cultural identification. Participants reported significantly more private than public collective self-esteem, and the most Jewish-identified participants reported greater private self-esteem, acculturative stress, and perceived discrimination than did their more assimilated counterparts. (c) 2010 APA, all rights reserved.

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PubMed Central

Ellis, N A; Ciocci, S; Proytcheva, M; Lennon, D; Groden, J; German, J

1998-01-01

Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador. These data, along with haplotype analyses, show that blmAsh was independently established through a founder effect in Ashkenazic Jews and in immigrants to formerly Spanish colonies. This striking observation underscores the complexity of Jewish history and demonstrates the importance of migration and genetic drift in the formation of human populations. PMID:9837821

The image of the insane in ancient Jewish lore.

PubMed

Kottek, S S

1992-01-01

This article considers the attitude towards the insane and insanity in ancient Jewish sources. In the Bible, the most famous case of a psychopathological personality is that of King Saul, who was plagued by 'an evil spirit'. Saul also raises the problematic connections between prophecy and frenzy. Madness and confusion of mind are mentioned among the biblical 'curses for disobedience'. In the Talmud, there is a detailed symptomatic evaluation of insanity, in the context of legal liability. It is well-known that some individuals are at times insane, otherwise sane and responsible, which is legally taken into careful consideration. The Jewish historian Josephus describes in his works several cases of psychiatric patients. The most impressive case is that of Jesus ben Ananias, a delirious maniac who announced the fall of Jerusalem while roaming about the streets of the city. It may be argued that no clear attitude of derision or ostracism towards insane patients can be found in ancient Jewish literature. 'The Lord preserves the fools' (Ps 116: 6).

Perception of the minority's collective identity and voting behavior: the case of the Palestinians in Israel.

PubMed

Suleiman, Ramzi

2002-12-01

The author investigated how Palestinian (n = 130) and Jewish (n = 153) Israeli university students perceived the collective identity of the Palestinian minority in Israel. The Palestinian and Jewish respondents perceived the "identity space" of the minority as linear, or bipolar, with 1 pole defined by the national (Palestinian) identity and the other defined by the civic (Israeli) label. The Palestinian respondents defined their collective identity in national (Palestinian, Arab) and integrative (Israeli-Palestinian) terms; the Jewish respondents perceived the minority's identity as integrative (Israeli-Palestinian). Different political outlooks among Palestinian respondents were related to their identification with the civic (Israeli) identity but not to their identification with the national (Palestinian) identity. In contrast, different political outlooks among Jewish respondents were related to their inclusion, or exclusion, of the national (Palestinian) component in their definition of the minority's identity. Implications of the results are discussed in terms of a minority acculturation model (J. Berry, J. Trimble, & E. Olmedo, 1986).

Collective identity and intergroup prejudice among Jewish and Arab students in the United States.

PubMed

Ruttenberg, J; Zea, M C; Sigelman, C K

1996-04-01

Relationships between indicators of collective identity (collective self-esteem, religious involvement, and involvement in ethnic organizations) and prejudice toward the other-group were examined in a sample of Jewish and Arab students in the United States. Contrary to expectations, collective identity variables were largely unrelated to prejudice among the Jewish students, although the Jewish students who expressed the least amount of anti-Arab sentiment were those who were the most religious. As expected, the Arab students who (a) had low public collective self-esteem and (b) were highly involved in religious and ethnic organizations tended to be the most prejudiced. The findings for Arab students, in particular, contradict findings obtained in the laboratory, using the minimal intergroup paradigm, and suggest that individuals who are highly involved in in-group activities but believe their group is not viewed favorably by others may derogate the members of a salient out-group in an attempt to acquire a more positive social identity.

Nondirectiveness and its lay interpretations: the effect of counseling style, ethnicity and culture on attitudes towards genetic counseling among Jewish and Bedouin respondents in Israel.

PubMed

Raz, Aviad E; Atar, Marcela

2003-08-01

To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness.

The historical archaeology of the 17th- and 18th-century Jewish community of Nevis, British West Indies

NASA Astrophysics Data System (ADS)

Terrell, Michelle M.

2000-11-01

This is an historical archaeological examination of a 17th- and 18th-century Jewish community on the island of Nevis in the British West Indies. Unlike earlier archaeological studies of the Jewish Caribbean Diaspora that focused on single sites, this investigation used a community-wide approach to elucidate the daily experience of Sephardic Jews within the colonial Caribbean. This project included an archaeological excavation at the purported location of the community's synagogue, an electrical resistivity survey of the surviving cemetery, the construction of a map of property ownership in 18th-century Charlestown, and archival research. This study was carded out within a multiscalar and contextual framework that emphasized the importance of understanding the diaspora that brought the Jews to the West Indies, the development of the colonial Caribbean, and the surrounding environs of the port city of Charlestown, Nevis. The archaeological analysis of the supposed site of the synagogue proved that it was in fact that of a late 18th-century townhouse, but the associated land record research revealed the actual location of the community's former synagogue. Furthermore, the reconstruction of the physical layout of colonial-period Charlestown from the land records indicated the presence of a distinct Jewish quarter in the undesirable southern portion of the town. Evidence from the public records of Nevis and the social history of the members of the Jewish population unveiled external social and political pressures placed upon the Sephardim as well as internal religious and ethnic ties dig bound the community together. It is argued in closing that the archival evidence, in conjunction with the continued presence of a clustered settlement pattern like that of European Jewish communities during the medieval period, indicates that the Jews of the Caribbean were not fully integrated socially or politically into British colonial society. This examination of the Nevis community bears testimony to a period of transition from the closed communities of the medieval period to the more open and widespread communities begun after Jewish emancipation in the late 18th century.

"It's a horrible sin. If they find out, I will not be able to stay": Orthodox Jewish gay men's experiences living in secrecy.

PubMed

Itzhaky, Haya; Kissil, Karni

2015-01-01

This qualitative study examined the intersection of sexual orientation and religion in the Jewish Orthodox community by exploring 22 Orthodox Jewish gay men's experiences living in secrecy. Analysis of in-depth interviews conducted with these men revealed four primary themes: emotional turmoil, ways of coping, impact on family relationships, and importance of the context. Findings from this study describe the daily struggles these men experienced keeping their homosexuality a secret. The findings suggest that in order to design effective interventions with this population, it is crucial to consider the larger community and religious context.

Human reproduction: Jewish perspectives.

PubMed

Schenker, Joseph G

2013-11-01

Developments in science and technology and corresponding clinical applications raise new religious questions, often without clear answers. The role of theology in bioethics is integral to clarify perceived attitudes toward these developments for different religious communities. The Jewish attitude towards procreation is derived from the first commandment of God to Adam to 'Be fruitful and multiply'. Judaism allows the practice of all techniques of assisted reproduction when the oocyte and spermatozoon originate from the wife and husband respectively. This paper presents the attitude of Jewish Law -- Halacha to therapeutic procedures, such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection, reproductive and therapeutic cloning.

Sex Therapy with Orthodox Jewish Couples.

ERIC Educational Resources Information Center

Ostrov, Stewart

1978-01-01

Conceptualized the interplay of religious, cultural, psychological, and interpersonal dynamics as they are related to the etiology and treatment of sexual dysfunctions within this group. Shows that the Jewish laws and values create an ambience whereby successful treatment of dysfunctions occurs through the resolution of key marital difficulties.…

Teaching Tolerance: Resources for Students and Teachers

ERIC Educational Resources Information Center

Moss, Barbara, Ed.

2013-01-01

In this column, the author reviews books and other resources that address issues related to teaching tolerance for those of other religions, races, gender orientations, and cultures. It reviews titles related to Jewish oppression, including Doreen Rappaport's (2012) "Beyond Courage, the Untold Story of Jewish Resistance during the…

Cultural Transitioning of Jewish Immigrants: Education, Employment and Integration

ERIC Educational Resources Information Center

Sinacore, Ada; Mikhail, Anne-Marie; Kassan, Anusha; Lerner, Alexandra

2009-01-01

This paper discusses the cultural transitioning process that immigrants undergo in order to attain educational, occupational, and social integration within Canadian society. Results of this phenomenological study examining 31 Jewish immigrants from Argentina, Israel, France and the Former Soviet Union, reveal that lack of educational equivalency…

[The Jewish Hospital in Budapest under the Nazi occupation (1944-1945)].

PubMed

Weisskopf, Varda

2008-01-01

On March 19, 1944 the German army invaded and occupied Hungary. The Waffen-SS soldiers captured the buildings of the Jewish community in Budapest, including the famous and important Jewish hospital on Szabolcs Street, founded in 1802. The Jewish hospital moved into a school belonging to the Jewish community on 44 Wesselényi Street. The hospital personnel managed to smuggle out medical equipment, and operating rooms were transferred into this central, temporary medical location. Other hospitals were founded, some inside the ghetto, others outside. The Judenrat supplied these hospitals with medical equipment obtained through contributions from Jews. The temporary hospitals admitted sick patients and a great number of those injured as a result of the war in Budapest. These hospitals operated with poor equipment. Surgeries were sometimes performed on kitchen tables, and medical equipment was sterilized by burning the synagogue's benches and library books. As of December 1944, there was no electricity in the hospitals. Thus doctors were forced to operate by the light of candles and flashlights. Nevertheless, they managed to save numerous lives. In spite of the terrible conditions under which the medical staff worked, they were committed to their mission, and their courage deserves appreciation. Ghetto Budapest was liberated by the Red army on 18th January, 1945. Thousands of Jews were released from the temporary hospitals.

Differences in clinical and pathological characteristics of colorectal cancer in Arab as compared to Jewish patients in Northern Israel.

PubMed

Glushko, Yelena; Basher, Walid; Barchana, Micha; Zidan, Jamal

2010-09-01

The Incidence of colorectal cancer (CRC) differs in different ethnic groups. The aim of this study is to investigate clinical and pathological features of CRC in Arab as compared to Jewish patients in Northern Israel. Clinical and pathological characteristics of 480 patients with CRC treated between 1999 and 2006 were retrospectively reviewed. Eighty-five percent of the patients were Jews and 15% were Arabs. Mean age at diagnosis was 67.1 years in Jews and 58.3 years in Arabs (P < 0.001). Stage I CRC was 17.5% versus 7.2% (P < 0.05), Stage II was 35.5% versus 27.5% (P < 0.01), Stage III was 26% versus 33.3% (P:0 < 0.01) and Stage IV 21% versus 31% (P < 0.01) in Jewish and Arab patients respectively. In 40.6% of Jewish patients, cancer was well differentiated compared to 27.1% of Arab patients (P < 0.01) and poorly differentiated in 5.5% versus 10,4% (P < 0.05). Abdominal pain, constipation and weight loss were more common in Arabs than in Jews (P < 0.05). In conclusion CRC is more advanced, more aggressive and more symptomatic in Arab than in Jewish patients. Arab patients are younger at the time of diagnosis. Screening for CRC should be started at earlier age in the Arab population than the population at large.

77 FR 6621 - Culturally Significant Objects Imported for Exhibition Determinations: “The Rylands Haggadah...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-02-08

... DEPARTMENT OF STATE [Public Notice 7792] Culturally Significant Objects Imported for Exhibition Determinations: ``The Rylands Haggadah: Medieval Jewish Art in Context'' SUMMARY: Notice is hereby given of the... exhibition ``The Rylands Haggadah: Medieval Jewish Art in Context,'' imported from abroad for temporary...

Confronting History: Holocaust Books for Children (Practical Reflections).

ERIC Educational Resources Information Center

Rudman, Masha Kabakow; Rosenberg, Susan P.

1991-01-01

Provides a comprehensive picture of current Holocaust literature, largely for readers age 10 and older. Describes books that look at individual responsibility, group responsibility, non-Jewish perspectives, and Jewish resistance and survivors' stories. Explores nonfiction works for varying ages, and closes with a special book that takes the form…

Geographical Distribution of Principals in Israeli Schools

ERIC Educational Resources Information Center

Lebental, Dana M.

2015-01-01

This quantitative investigation focuses on women high school principals at Jewish secular schools throughout Israel. Despite challenges, Israeli women have succeeded in obtaining over half of the principal positions at Jewish secular high schools, but the degree to which there is equal gender access to leadership roles in the school system remains…

The Conversation Continues

ERIC Educational Resources Information Center

Reimer, Joseph

2007-01-01

In this article, the author shares a few points of clarification to amplify the argument he puts forth in his article titled, "Beyond More Jews Doing Jewish: Clarifying the Goals of Informal Jewish Education." The author argues that socialization and education are two social processes that often overlap and reinforce one another. The purpose of…

Research and Reflections on the Spiritual Development of Young Jewish Children

ERIC Educational Resources Information Center

Schein, Deborah L.

2013-01-01

This article is about spiritual development for early childhood Jewish education. Findings from a research study defines the spiritual development of young children as an integration of deep connections, basic dispositions (strengthened from experiences of wonderment, awe, joy, inner peace), and complex dispositions (displayed through acts of…

Typicality Shift in Semantic Categories as a Result of Cultural Transition: Evidence from Jewish Argentine Immigrants in Israel.

ERIC Educational Resources Information Center

Shimron, Joseph; Chernitsky, Roberto

1995-01-01

Investigates changes in the internal structure of semantic categories as a result of cultural transition. Examines typicality shifts in semantic categories of Jewish Argentine immigrants in Israel. Presents a model mapping typicality shift patterns onto acculturation patterns. (HB)

The Role of Judaism in Family Relationships

ERIC Educational Resources Information Center

Krieger, Aliza Y.

2010-01-01

This article explores the religious and social underpinnings of family as a central social structure to Jewish life. Torah and Talmudic sources, conceptual papers, and empirical research that address the relevance of family to Judaism are examined. Suggestions for working with Jewish families in a therapeutic setting are provided.

Support for Palestinians among Jewish Americans: The Importance of Education and Contact

ERIC Educational Resources Information Center

Dessel, Adrienne B.; Abu Ahmad, Manal Yazbak; Dembo, Robert; Ben Hagai, Ella

2017-01-01

The violent and protracted Israeli-Palestinian conflict continues, and Jewish Americans play a significant role in influencing related US foreign policy as well as in promoting positive interactions with Palestinians globally. Diaspora populations have played an important role in international peace processes and American Jews are actively…

Research Resources for the Study of African-American and Jewish Relations.

ERIC Educational Resources Information Center

Gubert, Betty Kaplan

1994-01-01

Discusses New York City library resources for the study of African American and Jewish American relations. Highlights include library collections, access to materials, audio and visual materials, international newspapers, clippings, archives, children's books, and acquisitions. A list of the major libraries for the study of African American and…

Jewish Studies: A Guide to Reference Sources.

ERIC Educational Resources Information Center

McGill Univ., Montreal (Quebec). McLennan Library.

An annotated bibliography to the reference sources for Jewish Studies in the McLennan Library of McGill University (Canada) is presented. Any titles in Hebrew characters are listed by their transliterated equivalents. There is also a list of relevant Library of Congress Subject Headings. General reference sources listed are: encyclopedias,…

Affirmative Action in Israel.

ERIC Educational Resources Information Center

Lerner, Natan

This paper examines issues of equality, discrimination, affirmative action, and preferential treatment in Israel. An introduction provides a broad outline of topics addressed in the paper: the status of the Jewish sector, with treatment of Jewish immigrants to serve as an example of affirmative action; the policies of the state in relation to the…

Networked but No System: Educational Innovation among Bay Area Jewish Organizations

ERIC Educational Resources Information Center

Rubin Ross, Renee

2017-01-01

A widely read article from this journal explores innovative Jewish educational programs, initiatives, and organizations, arguing that these share a comdmitment to being "learner-centered" and recommending that a system be created to foster collaboration among them (Woocher, 2012). Using five San Francisco Bay Area-based…

A Therapist's Perspective on Jewish Family Values

ERIC Educational Resources Information Center

Zuk, Gerald H.

1978-01-01

Family therapy has been deficient in accounting for the impact of ethnic, religious, and racial values on success or failure in treating families. Jewish families respond well in family therapy due to a set of values. An individual's neurotic disposition may evolve from conflicts between family values and independent identity. (Author/JEL)

Is This the Paradigm Shift We Need?

ERIC Educational Resources Information Center

Mirvis, Jonathan

2012-01-01

Dr. Woocher's essay, states Mirvis, is seminal in the field of Jewish education. It proposes a new paradigm for Jewish education in North America. This proposed paradigm is supported by a comprehensive multi-disciplinary research drawing on literature from education, philosophy, history, sociology, psychology, and economics. The essay reflects a…

Strategizing Control of the Academy

ERIC Educational Resources Information Center

Roy, Sara

2005-01-01

Attacks on academic freedom are very prevelant on college campuses nationwide. Attacks are directed at academic freedom generally but the most specific and virulent is reserved for those educators--both Jewish and non-Jewish--in area studies, and notably, Middle Eastern studies whose ideas are considered anti-Israel, anti-Semitic or anti-American.…

Practical Parenting: A Jewish Perspective.

ERIC Educational Resources Information Center

Lipsitz, Gail Josephson

Based on the clinical expertise of social workers at Jewish Family Services of Central Maryland, this book presents practical advice for parents of all faiths, with each of 34 chapters exploring a specific parenting issue. The book is divided into five sections: (1) "Many Kinds of Families," dealing with only children, sibling struggles,…

Democracy's Jewish and Christian Roots: What World History Textbooks Don't Tell You.

ERIC Educational Resources Information Center

Gagnon, Paul

1987-01-01

Discusses the fact that although Jewish (along with Greek ideas) and Christian ideas make up the roots of Western culture, they are hardly mentioned in recent historical textbooks. This shortchanges students because they fail to learn the religious sources of human rights and democracy. (PS)

Tradition versus Egalitarianism in the Thinking of Jewish-American Adolescents

ERIC Educational Resources Information Center

Charme, Stuart Z.

2009-01-01

This article describes results from interviews with Jewish teenagers about the tension between adherence to tradition and commitment to egalitarianism in relation to issues like women in the rabbinate, women wearing ritual garments like "kipot" and "talitot", and gender separation at the Western Wall in Jerusalem. For many…

Seeing Diversity in Difference: Experiences in an Ultra-Orthodox Jewish College.

ERIC Educational Resources Information Center

Starr-Glass, David; Schwartzbaum, Avraham

2002-01-01

Reviews organizational and administrative history of Ultra-Orthodox Jewish College in Jerusalem, Israel, that leads to an institutional structure that supports distinctiveness. Examines influence of ultra-Orthodox communities in Jerusalem on the academic quality and distinctiveness of the college. Uses perspective of social construct theory to…

London's Jewish Communities and State Education

ERIC Educational Resources Information Center

Martin, Jane

2012-01-01

The Inner London education authority was a notable example of a radical and powerful local government body from which the fight for the comprehensive principle in English secondary education emerged. Building on previous work of women's contribution to state education in London, this articles focuses on Anglo-Jewish educator activists who helped…

Discovering Jewish Studies Collections in Academic Libraries: A Practical Guide

ERIC Educational Resources Information Center

Taler, Izabella

2014-01-01

The U.S. colleges and universities offering non-sectarian educational programs in Jewish Studies rely on the support of their academic libraries for research materials and library services. For college libraries which use Library of Congress Classification scheme, it is a common practice to integrate "studies" resources into their…

The Learning of Arabic by Israeli Jewish Children.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1998-01-01

Examines the learning of Arabic by Israeli Jewish children. Finds that children displayed negative attitudes toward learning Arabic, but had positive attitudes toward the classroom situation. Also finds that classroom situation was the best predictor of learning success. Suggests that children are influenced more by classroom environment than by…

["My Mirra, my world." Mirra Birens-Eitingon as a key to her husband Max Eitingon's persona].

PubMed

Ginor, Isabella; Remez, Gideon

2015-01-01

New reseach in Russia, Germany and Israel has revealed the complex and multifaceted figure of Mirra Eitingon (1877-1947), the wife for 31 years of Dr. Max Eitingon. Her character and her background in the Russian-Jewish intelligentsia and theatrical milieu provided a lifelong inspiration for Max in his many cultural interests as well as in his psychoanalytic activities, in Berlin and later in Jerusalem. His devotion to Mirra as well as to her two sons from previous marriages (one of them was the leading Soviet nuclear physicist Yuli Khariton) also highlight Max's own generosity and kindness.

Satisfaction of Jewish and Arab teachers in Israel.

PubMed

Bogler, Ronit

2005-02-01

The author investigated the differences between Jewish Israeli and Arab Israeli teachers in their satisfaction with their work. Initially, the goal of the present study was to investigate whether there were demographic attributes (such as age, gender, and education) that differentiated between the two groups of teachers. Later, the author added two variables, teachers' perceptions of their occupation and teachers' perceptions of their principals' leadership styles, to the analysis to examine their contribution to the level of satisfaction for each group. Regression analyses revealed the significant power of the two added variables in predicting teacher satisfaction among both Jewish and Arab Israeli teachers. The author discussed implications of the findings in relation to principals' roles and teachers' perceptions.

Delinquent activity among Jewish and Arab junior and senior high school students in Israel.

PubMed

Sherer, Moshe

2009-10-01

This study compares the criminal activities of male and female Jewish and Arab junior and senior high school students in Israel based on self-reported criminal activities. The sample consisted of 906 randomly selected junior and senior high school students. The findings indicate that Jewish students committed more types of delinquent acts when compared with their Arab counterparts; males committed more delinquent acts than females; and Arab females had very low rates of delinquency. The findings are discussed in light of possible influences of cultural and ethnic origin and knowledge about possible discrimination against Arab juveniles by the Israeli criminal justice system. Theoretical and practical implications of the results are suggested.

Robotics and artificial intelligence: Jewish ethical perspectives.

PubMed

Rappaport, Z H

2006-01-01

In 16th Century Prague, Rabbi Loew created a Golem, a humanoid made of clay, to protect his community. When the Golem became too dangerous to his surroundings, he was dismantled. This Jewish theme illustrates some of the guiding principles in its approach to the moral dilemmas inherent in future technologies, such as artificial intelligence and robotics. Man is viewed as having received the power to improve upon creation and develop technologies to achieve them, with the proviso that appropriate safeguards are taken. Ethically, not-harming is viewed as taking precedence over promoting good. Jewish ethical thinking approaches these novel technological possibilities with a cautious optimism that mankind will derive their benefits without coming to harm.

Jewish holidays and their associated medical risks.

PubMed

Urkin, Jacob; Naimer, Sody

2015-02-01

Religiosity is inherent in human cultures. Being different in many aspects, all have rules regarding appropriate behavior and rituals. Celebrations of social events and of holidays prevail in all major religions. These include code of dress, prayers, special food and activities which may have negative health implications. The Jewish religion is 'blessed' with an abundance of holidays each with its unique health implications. In this paper we provide an outline of the character of these festivals and possible medical repercussions on those celebrating them. Observant members of the Jewish religion and teams treating this population should be knowledgeable of potentially associated risks. Pre-holiday periods should be specifically targeted for educational and preventive activity in order diminish injury or morbidity.

The Jewish contribution to medicine. Part III. The 19th and 20th centuries in the USA.

PubMed

Dubovsky, H

1989-08-05

The Jewish hospital movement in the USA, which started in the last century for Jews as foreign immigrants and was extended to the general population this century, is an extensive organisation. Refugee physicians from Europe laid the foundations of Jewish medical involvement in medicine in the USA with Abraham Jacobi, the founder of paediatrics, Landsteiner, who discovered blood grouping, and Waksman, who evolved streptomycin. Other eminent workers, such as the Flexner brothers in medical education and research, Libman, who pioneered blood culture in the USA, and Salk and Sabin with the poliomyelitis vaccine were prominent in the major contribution of Jews to medicine in the USA.

The effect of values and culture on life-support decisions.

PubMed Central

Klessig, J

1992-01-01

Withdrawing life support is always difficult. When patients and health professionals are from different ethnic backgrounds, value systems that form the basis for such decisions may conflict. Many cultural groups do not place the same emphasis on patient autonomy and self-determination that Western society does and find the idea of terminating life support offensive. Although physicians should never assume patients will respond in a particular way because of their ethnic background, issues of life support should be discussed in a culturally sensitive way. African-American, Chinese, Jewish, Iranian, Filipino, Mexican-American, and Korean patients were surveyed about their views on life support. The findings reported here, although not meant to be definitive, should add to health professionals' understanding about diverse beliefs around life-and-death issues. By becoming aware of this diversity of beliefs, health professionals can avoid the damage to the physician-patient relationship caused by conflicting value systems. PMID:1413777

Short-Term Memory after All: Comment on Sederberg, Howard, and Kahana (2008)

ERIC Educational Resources Information Center

Usher, Marius; Davelaar, Eddy J.; Haarmann, Henk J.; Goshen-Gottstein, Yonatan

2008-01-01

P. B. Sederberg, M. W. Howard, and M. J. Kahana have proposed an updated version of the temporal-context model (TCM-A). In doing so, they accepted the challenge of developing a single-store model to account for the dissociations between short- and long-term recency effects that were reviewed by E. J. Davelaar, Y. Goshen-Gottstein, A. Ashkenazi, H.…

Glutathione-S-transferase M1, T1 and P1 polymorphisms, and breast cancer risk, in BRCA1/2 mutation carriers

PubMed Central

Kadouri, L; Kote-Jarai, Z; Hubert, A; Baras, M; Abeliovich, D; Hamburger, T; Peretz, T; Eeles, R A

2008-01-01

Variation in penetrance estimates for BRCA1/2 carriers suggests that other environmental and genetic factors may modify cancer risk in carriers. The GSTM1, T1 and P1 isoenzymes are involved in metabolism of environmental carcinogens. The GSTM1 and GSTT1 gene is absent in a substantial proportion of the population. In GSTP1, a single-nucleotide polymorphism that translates to Ile112Val was associated with lower activity. We studied the effect of these polymorphisms on breast cancer (BC) risk in BRCA1/2 carriers. A population of 320 BRCA1/2 carriers were genotyped; of them 262 were carriers of one of the three Ashkenazi founder mutations. Two hundred and eleven were affected with BC (20 also with ovarian cancer (OC)) and 109 were unaffected with BC (39 of them had OC). Risk analyses were conducted using Cox proportional hazard models adjusted for origin (Ashkenazi vs non-Ashkenazi). We found an estimated BC HR of 0.89 (95% CI 0.65–1.12, P=0.25) and 1.11 (95% CI 0.81–1.52, P=0.53) for the null alleles of GSTM1 and GSTT1, respectively. For GSTP1, HR for BC was 1.36 (95% CI 1.02–1.81, P=0.04) for individuals with Ile/Val, and 2.00 (95% CI 1.18–3.38) for carriers of the Val/Val genotype (P=0.01). An HR of 3.20 (95% CI 1.26–8.09, P=0.01), and younger age at BC onset (P=0.2), were found among Val/Val, BRCA2 carriers, but not among BRCA1 carriers. In conclusion, our results indicate significantly elevated risk for BC in carriers of BRCA2 mutations with GSTP1-Val allele with dosage effect, as implicated by higher risk in homozygous Val carriers. The GSTM1- and GSTT1-null allele did not seem to have a major effect. PMID:18542066

Adolescents' Reports of Parental Division of Power in a Multicultural Society.

ERIC Educational Resources Information Center

Weller, Aron; And Others

1995-01-01

Investigated parent division of power in family decision-making, as reported by 880 Israeli Arab and Jewish adolescents. Found that Arab subjects perceived more paternal and less maternal power than Jewish subjects. Gender differences and differences between ethnic and religious subgroups in each culture were found, reflecting the different…