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Background: Individuals of Ashkenazi Jewish ancestry have been identified as having higher prevalence of specific pathogenic variants associated with susceptibility to specific rare and chronic diseases. In Mexico, the prevalence and composition of rare cancer predisposing germline variants in Ashkenazi Jewish individuals has not been evaluated. Aim and methods: We aimed to evaluate the prevalence of pathogenic variants by massive parallel sequencing in a panel of 143 cancer-predisposing genes in 341 women from the Ashkenazi Jewish community of Mexico, who were contacted and invited to participate in the study through the ALMA Foundation for Cancer Reconstruction. Pre- and posttest genetic counseling was given and a questionnaire on personal, gyneco-obstetric, demographic and lifestyle variables was conducted. From peripheral blood DNA, the complete coding region, and splicing sites of a panel of 143 cancer susceptibility genes, including 21 clinically relevant genes, were sequenced. The Mexican founder mutation BRCA1 ex9-12del [NC_000017.10(NM_007294):c. (825+1-826-1)_(4,589+1-4,590-1)del] was also evaluated. Results: Among study participants (mean age ±standard deviation: 47 ± 14) 15% reported a personal history of cancer (50/341). Fourteen percent of participants (48/341) were carriers of pathogenic and likely pathogenic variants distributed among seven high-risk genes (APC, CHEK2, MSH2, BMPR1A, MEN1, MLH1, and MSH6), whereas 18.2% (62/341) had variants of uncertain clinical significance in genes associated with breast and ovarian cancer susceptibility (list of genes with VUS). Pathogenic and likely pathogenic variants in 16 susceptibility genes with ambiguous or non-well-established risk association for cancer were detected in 17.6% (60/341) of participants. Sixty four percent of participants reported current alcohol consumption compared with the 39 percent prevalence of alcohol consumption in Mexican women. None of the participants carried the recurrent Ashkenazi and Mexican founder mutations in BRCA1 or BRCA2, but 2% (7/341) had pathogenic Ashkenazi Jewish founder variants in BLM. Conclusion: Our findings show a diverse pathogenic variant composition among the recruited individuals of Ashkenazi Jewish ancestry in Mexico consistent with being a high-risk population for genetic diseases, which warrants further investigation to adequately assess the burden of hereditary breast cancer in this group and implement appropriate preventative programs.
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Following the end of World War II, when the world learned about the Holocaust, manifestations of antisemitism grew in Colombia as echoes of what was happening in other countries, both in the region and globally. This paper examines three such manifestations that occurred between 1945 and 1948: Echo 1 concerns an urban campaign against Jews during 1945 by conspirators who handed out flyers or pamphlets with antisemitic messages. Echo 2 concerns the only violence against Jewish traders in Colombian history. It happened in 1946 and culminated in 44 warehouses being destroyed and several Jews being beaten. And Echo 3 concerns the renowned case of the SS Exodus (1947), whose 4500 Jewish travelers presented Colombian visas to leave Europe. The recognition of these activities constitutes a contribution to the field of history, to Jewish communities, and to the study of antisemitism, with the aim of remembering those minorities excluded and challenged in such contexts.
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In Ashkenazi Jews (AJ) three recurring pathogenic sequence variants (PSVs) are detected in ~2.5% of the general population in the BRCA1 (c.68_69del = 185delAG, c.5266dup = 5382insC), and BRCA2 (c.5946del = 6174delT). Population-based screening for these PSVs in AJ women is part of the health basket in Israel. To assess the feasibility and outcome of BRCA genotyping in the Jewish population of Uruguay, AJ in the greater Montevideo area were recruited using ethically approved protocol and without pretest counseling were genotyped for the three predominant AJ PSVs in the BRCA genes. Independently confirmed PSV carriers were counseled, and genetic testing was offered to additional family members. Overall, 327 participants were enrolled: 312 (95%) female, 261 (80%) had all four grandparents AJ, and 14 (4%) women were breast cancer survivors with a mean age ± standard deviation (SD) 50 ± 11.5 years. The BRCA1 c.68_69del PSV was detected in three cancer free participants (0.92%, CI 95% 0.31-2.6), all with a suggestive family history. No carriers of the other two recurrent PSVs were detected. Online oncogenetic counseling was provided for all carriers. In conclusion, the rate of the BRCA1 c.68_69del PSV was similar with the rate in other AJ communities. AJ population BRCA genotyping screens in Uruguay seem feasible and should be promoted.
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Genes BRCA1 , Judeus , Proteína BRCA1/genética , Proteína BRCA2/genética , Feminino , Genes BRCA2 , Predisposição Genética para Doença , Humanos , Judeus/genética , Masculino , Recidiva Local de Neoplasia/genéticaRESUMO
Robert Fine was among the most original social theorists in Britain of the past 30 years, and the aim of this paper is to offer a first systematic assessment of his intellectual contribution. There are sound intellectual reasons to explore Fine's scholarship. He maintained a problematic relation with mainstream sociology and, against the reduction of sociology to questions of method, culture, or class, he argued that sociologists must continue to ask difficult normative questions as part of the social world they ought to explain. And there are also pressing political concerns that justify a reconsideration of his writings. Global politics is currently marked by a populist wave that decries the very ideas and values that were central to Fine's social theory: the need to uphold the rule of law at home and abroad, the politics of cosmopolitan solidarity, and the significance of antisemitism and its relationships with different forms of authoritarian politics. My main argument is that there is a dialectics of universality that drives forward Fine's intellectual project. By this, I mean that a universalistic idea of humanity-an all-inclusive conception of all human beings-is the most important normative intuition of modern times. This idea of humanity moves forward in history through a dual process of emancipation and domination: successful forms of social, legal, and political inclusion help make visible previous dynamics of exclusion but may also create or recreate discriminatory practices. Building on the work of French historian Michael Löwy on heterodox Jewish thinkers, I explain the three main tenets of Fine's work: (a) his reconstruction of critical social theory; (b) the notion of cosmopolitan solidarity; and (c) the significance and main features of modern antisemitism.
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Judeus/psicologia , Discriminação Social/psicologia , Teoria Social , História do Século XX , História do Século XXI , Humanos , Internacionalidade , Política , Mudança Social , Sociologia/história , Pensamento , Reino UnidoRESUMO
Resumen El fundamentalismo religioso expresa un conjunto de creencias basadas en una interpretación literal de un manuscrito considerado sagrado, con una exigencia intransigente de sometimiento a una doctrina. Diferentes variables psicosociales como el autoritarismo, la dominancia social, la necesidad de cierre y la ideología del rol de género han sido estudiadas en relación con fundamentalismo religioso. El presente trabajo tuvo como objetivo revisar estas relaciones y proponer un modelo teórico que las vincula, en una muestra de judíos ortodoxos. Se trabajó con una muestra no probabilística de judíos ortodoxos, compuesta por 426 adultos entre hombres y mujeres, con un rango etario de 18 a 69 años. Los resultados observados, en convergencia con estudios previos, confirman las relaciones positivas entre el fundamentalismo religioso y la necesidad de cierre cognitivo, el autoritarismo del ala de derechas, la orientación a la dominancia social y la ideología de roles de género. A partir de ello, se propone un modelo teórico en el que autoritarismo y dominancia social modulan los niveles de necesidad de cierre y fundamentalismo religioso los que, a su vez, inciden en los niveles de ideología del rol de género. Los hallazgos de este estudio pueden contribuir al análisis de los efectos de la radicalización y brindar insumos para el desarrollo e implementación de las medidas preventivas necesarias. Se discuten los alcances y límites de la propuesta teórica.
Abstract Religious fundamentalism expresses a set of beliefs based on a literal interpretation of a manuscript considered sacred, with an intransigent demand for submission to a doctrine. Different psychosocial variables such as authoritarianism, social dominance, the need for closure and the gender role ideology have been studied in relation to religious fundamentalism. On the one hand, authoritarianism and social dominance have been considered as predictors of religious fundamentalism while, on the other hand, the need for closure and the gender role ideology have been studied in their relations with religious fundamentalism. The aim of this work was to review these relationships and propose a theoretical model that links them, in a sample of Orthodox Jews. We worked with a non-probabilistic sample of Orthodox Jews, composed of 426 adults between men and women, with an age range of 18 to 69 years. The results observed, in convergence with previous studies, confirm the positive relationships between religious fundamentalism and the need for cognitive closure, the authoritarianism of the right wing, the orientation to social dominance and the ideology of gender roles. From this, a theoretical model is proposed in which authoritarianism and social dominance modulate the levels of need for closure and religious fundamentalism which, in turn, affect the levels of ideology of the gender role. The scope and limits of the theoretical proposal are discussed.
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Abstract Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three forms. Objective: To perform a review of the state of the art on TSD and describe its definition, epidemiology, etiology, physiopathology, clinical manifestations, as well as advances regarding its diagnosis and treatment. Materials and methods: A literature search was carried out in PubMed using the MeSH terms "Tay-Sachs Disease". Results: after the initial search was conducted, 1 233 results were retrieved, of which 53 articles were finally selected. TSD is caused by the deficiency of the lysosomal enzyme β-hexosaminidase A (HexA), and is characterized by neurodevelopmental regression, hypotonia, hyperacusis and cherry-red spots in the macula. Research on molecular pathogenesis and the development of possible treatments has been limited, consequently there is no treatment established to date. Conclusion: TSD is an autosomal recessive neurodegenerative disorder. Death usually occurs before the age of five. More research and studies on this type of gangliosidosis are needed in order to find an adequate treatment.
Resumen Introducción. La deficiencia de una sola hidrolasa (enzimas lisosomales) da como resultado una enfermedad de almacenamiento lisosomal. Las gangliosidosis GM2 son trastornos autosómicos recesivos causados por la deficiencia de β-hexosaminidasa. La enfermedad de Tay-Sachs (TSD, por sus siglas en inglés) es una de las tres presentaciones de este tipo de gangliosidosis. Objetivo. Realizar una revisión del estado del arte de la TSD describiendo su definición, epidemiología, etiología, fisiopatología, manifestaciones clínicas y actualidades en su diagnóstico y tratamiento. Materiales y métodos. Se realizó una búsqueda bibliográfica en PubMed utilizando como único término MeSH "Tay-Sachs Disease". Resultados. Se encontraron 1 233 publicaciones y se seleccionaron 53 artículos. La TSD es originada por la deficiencia de la enzima lisosomal β-hexosaminidasa A (HexA) y se caracteriza por regresión del neurodesarrollo, hipotonía, hiperacusia y manchas maculares rojo cereza. La investigación de la patogenia molecular y el desarrollo de posibles tratamientos han sido limitados y en la actualidad no se cuenta con uno plenamente establecido. Conclusiones. La TSD es un trastorno neurodegenerativo autosómico recesivo y por lo general la muerte se produce antes de los 5 años de edad. Son necesarias más investigaciones y estudios sobre este tipo de gangliosidosis con el fin de encontrar un tratamiento adecuado.
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No seu livro Doenças dos trabalhadores, publicado em 1700, Bernardino Ramazzini dedicou um capítulo às doenças que acometiam os judeus. Nessa época, eles eram frequentemente perseguidos e proibidos de exercer a maioria das ocupações, restando-lhes como principal atividade permitida a recuperação e o comércio de roupas a partir de tecidos velhos e usados. Ramazzini observou que problemas respiratórios, cutâneos e oculares eram comuns para esse povo e estavam relacionados a sua atividade ocupacional típica. Concluindo, a fé religiosa foi fator relevante para determinar a morbidade desse grupo populacional.
In his book Diseases of workers, published in 1700, Bernardino Ramazzini devoted a chapter to the diseases affecting Jews. At that time, Jews were often persecuted and forbidden to engage in most occupations, except for recovering and selling clothes made of old and worn cloth. Ramazzini noticed that respiratory, skin and eye problems were common among Jews, and were related to their typical occupations. To conclude, religion has been a relevant determinant of the morbidity of this population group.
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Doenças Respiratórias/etiologia , Judeus/história , Doenças Profissionais , Medicina do Trabalho/históriaRESUMO
BACKGROUND: Only few studies have examined the impact of racial differences on the age of onset, course and outcomes of diverticulitis. AIM: To provide data about the epidemiology of diverticulitis in northern Israel, and to determine whether ethnicity is a predictor of age of onset, complications, and need for surgery. METHODS: Was conducted a retrospective review of the charts of all patients diagnosed with a first episode of diverticulitis in our hospital between 2005 and 2012. RESULTS: Were found 638 patients with a first episode of acute diverticulitis in the eight year interval. Israeli Arabs developed a first episode of diverticulitis at a younger age compared to Jews (51.2 vs 63.8 years, p<0.01). Arabs living in rural areas developed diverticulitis at a younger age than Arabs living in urban centers (49.4 vs 54.5 years, P=0.03). Jewish and Arabic men developed diverticulitis at younger age compared to their female counterparts (59.9 vs 66.09, p<0.01, and 47.31 vs 56.93, p<0.01, respectively). Arabs were more likely [odds ratio (OR)=1.81 ,95% confidence interval (CI)1.12-2.90, p=0.017] than Jews to require surgical treatment (urgent or elective) for diverticulitis. CONCLUSIONS: Israeli Arabs tend to develop diverticulitis at a younger age and are more likely to require surgical treatment for diverticulitis compared to Jews. Arabs living in rural areas develop diverticulitis at a younger age than Arabs living in urban centers. These findings highlight a need to address the root cause for ethnic differences in onset, course and outcome of acute diverticulitis. .
RACIONAL: Somente poucos estudos examinaram o impacto das diferenças raciais na idade de início, curso e os resultados da diverticulite. OBJETIVO: Fornecer dados sobre a epidemiologia da diverticulite no norte de Israel, e determinar se a etnia é preditor de idade de início, complicações e necessidade de tratamento cirúrgico. MÉTODOS: Foi realizado estudo retrospectivo dos prontuários de todos os pacientes diagnosticados com um primeiro episódio de diverticulite em nosso hospital entre 2005 e 2012. RESULTADOS: Foram encontrados 638 pacientes com um primeiro episódio de diverticulite aguda no intervalo de oito anos. Os árabes israelenses desenvolveram o primeiro episódio de diverticulite em idade mais jovem em comparação com os judeus (51,2 vs 63,8 anos, p<0,01). Árabes que vivem em áreas rurais a diverticulite foi desenvolvida em idade mais jovem do que os árabes que vivem em centros urbanos (49,4 vs 54,5 anos, p=0,03). Homens judeus e árabes desenvolveram diverticulite em idade mais jovem em comparação com os seus homólogos do sexo feminino (59,9 vs 66,09, p<0,01, e 47,31 vs 56,93, p<0,01, respectivamente). Os árabes eram mais prováveis do que os judeus de necessitar de tratamento cirúrgico (urgência ou eletiva) para a diverticulite [odds ratio (OR)=1,81, intervalo de confiança de 95% (CI) 1,12-2,90, p=0,017]. CONCLUSÕES: Os árabes israelenses tendem a desenvolver diverticulite em idade mais jovem e são mais propensos a necessitar de tratamento cirúrgico para a diverticulite em comparação com os judeus. Árabes que vivem em áreas rurais desenvolvem diverticulite em idade mais jovem do que os árabes que vivem em centros urbanos. Estes resultados destacam a necessidade de abordar a causa raiz para diferenças étnicas em início, o curso e o resultado da diverticulite aguda. .
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Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Colo/epidemiologia , Doenças do Colo/cirurgia , Diverticulite/epidemiologia , Diverticulite/cirurgia , Doença Aguda , Fatores Etários , Árabes , Israel , Judeus , Estudos RetrospectivosRESUMO
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.