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Id: biblio-833602
Autor: Argentina. Ministerio de Salud. Dirección de Calidad de los Servicios de Salud.
Título: Informe ultrarrápido de evaluación de tecnología sanitária: profilaxis antibiótica para la leptospirosis en caso de desastre natural (inundación) / Ultra-rapid report health technology assessment: antibiotic prophylaxis for leptospirosis in the event of a natural disaster (flood).
Fonte: s.l; s.n; [2013]. [{"_e": "", "_c": "", "_b": "tab", "_a": ""}].
Idioma: es.
Resumo: La leptospirosis es una zoonosis bacteriana causada por especies del género Leptospira que afectam a humanos y animales. Su reservorio lo constituyen los roedores y animales domésticos principalmente, y su transmisión ocurre por la contaminación de suelos y agua con la orina de estos animales. Su distribucción es amplia en países tropicales incluyendo la región del Caribe, América Central y paises de Amércia del Sur. La mayoría de las infecciones son subclínicas o leves, pero puede ocasionar cuadros clínicos graves e incluso fatales. Situaciones particularmente graves de riesgo de infección las constituyen las inundaciones, ya que aumenta el contacto con aguas contaminadas por la orina de los animales vectores. Se realizó un informe ultrarrápido de evaluación de tecnología sobre las profilaxis antibiótica para la leptospirosis en caso de inundación a pedido de las autoridades del Ministerio de Salud de la Provincia de Burenos Aires. Conclusiones: La evidencia analizada no permite determinar si existen beneficios claros en relación al uso de doxiciclina 200 ms semanal en forma profiláctica para evitar la infección por leptospirosis en caso de inundación, luego de la exposición al factor de risgo. En cambio sí se observó aumento de efectos adversos leves (náuseas y vómitos) con el empleo de dicho antibiótico. Se necesitan nuevos ensayos clínicos controlados y aleatorizados de alta calidad metodológica para poder esclarecer la efectividad de la quimioproflaxis de casos de leptospirosis epidémica relacionados a inundaciones. Intervención no recomienda evidencia heterogénea impide extraer conclusiones sobre beneficio clínico en este momento.
Descritores: Antibioticoprofilaxia/efeitos adversos
Inundações
Leptospirose/tratamento farmacológico
Antibacterianos/uso terapêutico
-América do Sul
América Central
Análise Custo-Benefício
Região do Caribe
Desastres Naturais
Limites: Humanos
Animais
Tipo de Publ: Revisão
Metanálise
Estudo de Avaliação
Responsável: BR1.1 - BIREME


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Id: biblio-1278150
Autor: Zarama Valenzuela, Álvaro; Bustos Sánchez, José Luis; Gordillo Navas, Gladys Ceclia; Vargas Rodríguez, Ledmar Jovanny.
Título: Trombólisis en ataque cerebrovascular isquémico. Experiencia en Boyacá / Thrombolysis in ischemic cerebrovascular accidents. The experience in Boyacá
Fonte: Acta méd. colomb;46(1):14-19, ene.-mar. 2021. tab, graf.
Idioma: es.
Resumo: Resumen Introducción: se describe la experiencia de un programa de trombólisis para ataque cerebro-vascular isquémico en un hospital público colombiano de tercer nivel. Objetivos: caracterizar los pacientes que recibieron trombólisis intravenosa por ataque cerebro-vascular isquémico en la institución hospitalaria entre enero de 2014 y junio de 2019. Material y métodos: estudio observacional retrospectivo, a partir de la revisión de historias clínicas. Resultados: se incluyeron 156 pacientes. La edad promedio fue de 66.1 años y 50.6% fueron mujeres. Sólo 28.8% provenían de Tunja. La hipertensión arterial fue el factor de riesgo más prevalente. El tiempo promedio de estancia fue de ocho días (DE 7.7) y el tiempo promedio de ventana fue de 2.8 horas (DE 1.29). El puntaje NIHSS promedio de ingreso fue 12.4 (DE 5) y el de egreso de 4.8 (DE 4.48). La tasa de mortalidad intrahospitalaria fue 14.7% y la tasa de transformación hemorrágica de 10.9%. El tiempo puerta-aguja promedio fue de 62.8 minutos (DE 42.95) y el tiempo puerta-imagen promedio de 23.5 minutos (DE 27.42). Conclusiones: los resultados obtenidos contribuyen a robustecer los datos epidemiológicos sobre los programas de trombólisis en el ataque cerebrovascular isquémico en Colombia y Latinoamérica. La distribución geográfica de la población de este estudio realza la importancia de la construcción de redes de trombólisis y la utilización de herramientas como la telemedicina.

Abstract Introduction: the experience of a thrombolysis program for ischemic cerebrovascular accidents in a Colombian public tertiary care hospital is described. Objectives: to characterize patients who received intravenous thrombolysis due to an ischemic cerebrovascular accident in this hospital between January 2014 and June 2019. Materials and methods: a retrospective observational study based on a chart review. Results: 156 patients were included. The average age was 66.1 years, and 50.6% were women. Only 28.8% were from Tunja. Arterial hypertension was the most prevalent risk factor. The average length of stay was eight days (SD 7.7), and the average window period was 2.8 hours (SD 1.29). The average NIHSS score on admission was 12.4 (SD 5) and at discharge was 4.8 (SD 4.48). The inpatient mortality rate was 14.7%, and the rate of hemorrhagic transformation was 10.9%. The average door-to-needle time was 62.8 minutes (SD 42.95), and the average door-to-imaging time was 23.5 minutes (SD 27.42). Conclusions: The results obtained contribute to strengthening the epidemiological data on thrombolysis programs for ischemic cerebrovascular accidents in Colombia and Latin America. The geographical distribution of the study population highlights the importance of constructing thrombolysis networks and using tools like telemedicine.
Descritores: Acidente Vascular Cerebral
-América do Sul
Terapêutica
Avaliação de Programas e Projetos de Saúde
Terapia Trombolítica
Limites: Humanos
Pessoa de Meia-Idade
Responsável: CO70 - Asociación Colombiana de Medicina Interna


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Id: biblio-899744
Autor: Jung, Francisca; Martínez, M. José; Gaggero, Aldo; Chnaiderman, Jonas.
Título: Polyomavirus en hospederos inmunocomprometidos: situación en Sudamérica / Polyomavirus in immunocompromised patients: the South America's situation
Fonte: Rev. chil. infectol;34(5):468-475, oct. 2017. graf.
Idioma: es.
Resumo: Resumen A 46 años de la identificación de los primeros polyomavirus en humanos (PyV), la preocupación por encontrar nuevos tipos relacionados a patologías de distintos órganos en pacientes inmunosuprimidos persiste. Hasta el momento de esta revisión, 15 PyV han sido descritos, muchos de ellos sin estar claramente asociados a enfermedades. En nuestro país, al igual que en gran parte de Sudamérica, el conocimiento y la pesquisa de estos agentes infecciosos son insuficientes por lo que sistematizamos aquello que se sabe sobre estos virus y su relación con los diferentes sistemas del cuerpo humano, con énfasis en los inmunosuprimidos y señalamos aquellos datos publicados en nuestro continente. Esperamos así incentivar un mayor estudio de estas infecciones virales.

Forty-six years after the identification of the first polyomaviruses in humans (PyV) still there are strong concerns to find new types related to pathologies of different organs in immunocompromised patients. At the time of this review, 15 PyV have been described, many of them without being clearly associated with diseases. In our country, as in much of South America, the knowledge and research of these infectious agents are insufficient, so we systematized what is known about these viruses and their relationship with different human systems with emphasis on immunocompromised and we pointed out data published in our continent. Thus, we hope to encourage the study of these infections.
Descritores: Hospedeiro Imunocomprometido/imunologia
Polyomavirus/classificação
Polyomavirus/patogenicidade
Infecções por Polyomavirus/imunologia
Imunocompetência/imunologia
-América do Sul
Limites: Humanos
Tipo de Publ: Revisão
Responsável: CL1.1 - Biblioteca Central


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Id: lil-794671
Autor: Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio.
Título: Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America
Fonte: Int. braz. j. urol;42(4):793-797, July-Aug. 2016. tab.
Idioma: en.
Resumo: ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach.
Descritores: Vigilância da População
Anormalidades Craniofaciais/epidemiologia
Hipospadia/epidemiologia
-América do Sul/epidemiologia
Prevalência
Limites: Humanos
Masculino
Recém-Nascido
Tipo de Publ: Estudo Multicêntrico
Responsável: BR1.1 - BIREME


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Id: biblio-840835
Autor: Fernández, Nicolás; Pérez, Jaime; Monterrey, Pedro; Poletta, Fernando A; Bägli, Darius J; Lorenzo, Armando J; Zarante, Ignacio.
Título: ECLAMC Study: prevalence patterns of hypospadias in South America: multi-national analysis over a 24-year period
Fonte: Int. braz. j. urol;43(2):325-334, Mar.-Apr. 2017. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective To evaluate prevalence trends of hypospadias in South-America it is essential to perform multicenter and multinational studies with the same methodology. Herein we present systematic data as part of an international multicenter initiative evaluating congenital malformations in South America over a 24-year period. Materials and Methods A nested case-control study was conducted using the Latin American Collaborative Study of Congenital Malformations (ECLAMC), between January 1989 and December 2012. Cases were stratified as isolated (IH) and non-isolated hypospadias (NIH). Global prevalence was calculated and discriminated by country. Associations between birth weight and gestational age, and NIH distribution by associated abnormality and severity of hypospadias, were analyzed. Results A total of 159 hospitals from six countries participated, reporting surveillance on 4.020.384 newborns. A total of 4.537 hypospadias cases were detected, with a global prevalence of 11.3/10.000 newborns. Trend analyses showed in Chile, Brazil and Uruguay a statistically significant increase in prevalence. Analysis of severity and associated anomalies did not to find an association for distal cases, but did for proximal (RR=1.64 [95% CI=1.33-2.03]). Conclusion This is one of only a few Latin American multicenter studies reporting on the epidemiology of hypospadias in South America in the last two decades. Our data adds to evidence suggesting an increase in some countries in the region at different times. There were also variations in prevalence according to severity. This study adds to literature describing associated anomalies at a hospital-based level.
Descritores: Hipospadia/epidemiologia
-América do Sul/epidemiologia
Fatores de Tempo
Índice de Gravidade de Doença
Estudos de Casos e Controles
Vigilância da População
Prevalência
Análise de Regressão
Idade Gestacional
Hipospadia/fisiopatologia
Limites: Humanos
Masculino
Recém-Nascido
Tipo de Publ: Estudo Multicêntrico
Responsável: BR1.1 - BIREME


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Id: biblio-985161
Autor: Scarponi, Cristiane Faria de Oliveira; Silva, Raquel Duarte Nunes da; Souza Filho, Job Alves de; Guerra, Maria Regina Lage; Pedrosa, Marco Antônio Ferreira; Mol, Marcos Paulo Gomes.
Título: Hepatitis delta prevalence in South America: a systematic review and meta-analysis
Fonte: Rev. Soc. Bras. Med. Trop;52:e20180289, 2019. tab, graf.
Idioma: en.
Resumo: Abstract Hepatitis delta virus (HDV) has been associated with acute or chronic hepatitis in Latin America, but there is no prevalence study covering South American countries. This meta-analysis aimed to estimate anti-HDV prevalence through a systematic review of published articles in English, Portuguese and Spanish until December 2017. Searches were conducted in Health Virtual Library, Capes, Lilacs, PubMed, and SciELO, according to defined criteria regarding participant selection and geographical setting. Study quality was assessed using the GRADE guidelines. Pooled anti-HDV prevalence was calculated using the DerSimonian-Laird random-effects model with Freeman-Tukey double arcsine transformation. Out of the 405 identified articles, only 31 met the eligibility criteria for inclusion in the meta-analysis. In South America, pooled anti-HDV prevalence among hepatitis B virus carriers was 22.37% (95% confidence interval: 13.72-32.26), though it appeared less frequently in some countries and populations, according to the data collection date. The findings indicated significant successive reductions in anti-HDV prevalence over thirty years. However, there was a scarcity of HDV epidemiological studies outside the Amazon Basin, notably in the Southwest continent and absence of target population standardization. There was a high HDV prevalence in South American countries, despite differences in methodological characteristics and outcomes, highlighting a drastic decline in the last decades. Future studies should identify HDV prevalence estimates in other regions of the continent and identify risk factors.
Descritores: Hepatite D/epidemiologia
Vírus Delta da Hepatite/genética
Vírus Delta da Hepatite/imunologia
-Filogenia
América do Sul/epidemiologia
Prevalência
Genótipo
Limites: Humanos
Tipo de Publ: Revisão Sistemática
Responsável: BR1.1 - BIREME


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Id: biblio-1136855
Autor: Rodríguez, José Alejandro Iza; Rodríguez, Shirley Natali Iza; Olivera, Mario Javier.
Título: Plasmodium vivax malaria across South America: management guidelines and their quality assessment
Fonte: Rev. Soc. Bras. Med. Trop;53:e20200179, 2020. tab.
Idioma: en.
Resumo: Abstract INTRODUCTION: Plasmodium vivax malaria represents a major public health problem. This study presents the quality assessment of clinical practice guidelines for the management of P. vivax malaria. METHODS: A systematic review was conducted in PubMed, SciELO, and Google Scholar. Additionally, five guidelines were assessed with the AGREE (Appraisal of Guidelines Research and Evaluation) II protocol. RESULTS The general performance on the domains of stakeholder involvement, development rigor, and editorial independence was low. CONCLUSIONS: Most guidelines lack a solid research methodology, which implies ambiguous accuracy. Much needs to be done in the area of therapeutics and quality of policies.
Descritores: Malária Vivax
-Projetos de Pesquisa
América do Sul
Saúde Pública
Coleta de Dados
Limites: Humanos
Responsável: BR1.1 - BIREME


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Id: biblio-1179704
Autor: Bueno, Flávia Thedim Costa.
Título: Saúde global e integração regional: a resposta sul-americana à emergência da síndrome congênita do vírus Zika / Global health and regional integration: the South American response to the emergency of the congenital Zika syndrom.
Fonte: São Paulo; s.n; 2020. 282 p.
Idioma: pt.
Tese: Apresentada a Universidade de São Paulo. Faculdade de Saúde Pública para obtenção do grau de Doutor.
Resumo: Em 2015, um aumento incomum do número de bebês nascidos com problemas neurológicos foi detectado no Nordeste do Brasil, suscitando a suspeita de um vínculo entre a infecção pelo vírus Zika em mulheres grávidas e as malformações em seus bebês. O Brasil declarou Emergência Nacional em novembro de 2015 e os dados foram reportados à Organização Pan-Americana da Saúde (OPAS), de acordo com o Regulamento Sanitário Internacional (RSI). Em fevereiro de 2016, a Organização Mundial de Saúde declarou uma Emergência de Saúde Pública de Interesse Internacional (ESPII), apesar de muitos atores da comunidade internacional ainda não estarem convencidos do vínculo entre o vírus Zika e as malformações. Naquele momento de grande turbulência política no Brasil, que desaguou no impeachment da Presidente Dilma Rousseff, assuntos internacionais não eram uma prioridade e a América do Sul perdia paulatinamente a sua centralidade, o que contribuiu para uma crise sem precedentes da integração regional. Como todos os países da região relataram casos de Zika, esperava-se que organizações regionais, como OPAS, União Sul-americana de Nações (Unasul) e Mercado Comum do Sul (Mercosul), colocassem em prática seus planos de resposta a emergências. O objetivo desta tese é avaliar se houve circulação internacional de políticas públicas na resposta à ESPII em nível regional; e se havia um sistema regional de vigilância e resposta, identificando os principais fatores que influenciaram a resposta regional. A metodologia qualitativa foi empregada por meio de levantamento bibliográfico, análise de documentos e entrevistas com os atores-chave do governo brasileiro e das organizações em foco. Concluiu-se que a OPAS destacou-se em relação às outras organizações regionais por ser a mais antiga, por ter grande permeabilidade nos países e por oferecer apoio técnico, facilitando suas ações mesmo em meio a crises políticas. Já a resposta da Unasul e do Mercosul foi prejudicada pela crise política. Nesse contexto, dois processos diferentes foram identificados na resposta regional à ESPII. O primeiro foi a difusão da tese brasileira de que havia um vínculo entre a infecção de gestantes pelo vírus Zika e as malformações congênitas em bebês. O segundo processo foi a circulação do arcabouço normativo do RSI. Estas descobertas comprovam que havia um mecanismo regional de resposta a emergências que operou no caso do Zika na América do Sul. A OPAS, como guardiã do RSI na região, atuou com destaque no reconhecimento de emergências e na ativação de seus mecanismos. Não foi confirmada a hipótese de que um equipamento regional foi operado pela UNASUL.

In 2015, an uncommon increase in the number of babies born with neurological problems was detected in Northeast Brazil, raising suspicious there was a link between infection by the Zika virus in pregnant women and their babies´ malformations. Brazil declared a National Emergency in November 2015, and data was reported to the Pan-American Health Organization (PAHO), according to the International Health Regulations (IHR). In February 2016, the World Health Organization declared the situation a Public Health Emergency of International Concern (PHEIC), even though many actors of the international community were still not convinced that the Zika virus was the agent behind the malformations. At that moment of great political turmoil in Brazil, which lead to the impeachment of President Dilma Rousseff, international affairs were not a priority and the central role of South America was lost progressively, resulting in an unprecedented crisis of the regional integration process. As all countries in the region reported Zika cases, it was expected regional organizations, such as PAHO, the Union of South American Nations (Unasur) and the Common Market of the South (Mercosur) to put in practice their emergency response plans. The aim of this thesis is to assess whether there was international circulation of public policies in the response to the PHEIC at the regional level and whether there was a regional health surveillance and response system in place, identifying the main factors that influenced the regional response. Qualitative methodology was conducted through bibliographic survey, document analysis and interviews with key actors from the Brazilian government and the organizations focused in this thesis. The following conclusions were reach: on the one hand, PAHO stood out in relation to the other regional organizations for being the oldest, having great permeability in the countries and offering countries technical support, facilitating its actions, even during a political crisis. On the other, Unasur and Mercosur had a poor performance in responding due to the political crisis. In this context, two different processes were identified as operating in the regional response to the PHEIC. The first one was the diffusion of the Brazilian thesis of the link between the infection of pregnant women by the Zika virus and the congenital malformations in babies. The second, was the circulation of the IHR normative framework. The above findings show that there was a regional emergency response mechanism that operated in the Zika case in South America. PAHO, being the body that enforces the application of the IHR in the region, acted prominently in both emergency recognition and the activation of its mechanisms. The hypothesis of a regional gear operated by Unasur was not confirmed.
Descritores: Saúde Global
Organização Internacional
Zika virus
Infecção por Zika virus
-América do Sul
Responsável: BR67.1 - CIR - Biblioteca - Centro de Informação e Referência


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Id: biblio-1059081
Autor: Motta, Filipe; Campos, Bárbara Lopes.
Título: Estado de bem-estar social e políticas públicas para mulheres nos países nórdicos e na América Latina: Da sociedade civil à institucionalização / Welfare state and public policies for women in nordic countries and Latin America: From civil society to institutionalization / Estado de bienestar social y políticas públicas para mujeres en países nórdicos y América Latina: De la sociedad civil a la institucionalización
Fonte: Sex., salud soc. (Rio J.);(33):158-179, set.-dez. 2019.
Idioma: pt.
Resumo: Resumo A proposta deste trabalho é fazer um comparativo entre processos de construção de políticas para as mulheres no Estado de bem-estar social-democrata dos países nórdicos com alguns desenvolvidos por partidos de esquerda na América Latina, principalmente a partir da chamada onda rosa, com a entrada de governos progressistas na região. Para tal, primeiramente faremos uma breve apresentação de tipologias de análise sobre igualdade de gênero na discussão sobre políticas públicas e feminismo. Depois, faremos a exposição da construção dos regimes de Bem-estar social nos países do Norte, dando enfoque em como essas políticas se desenvolvem nos países nórdicos. Por fim, trabalharemos o caso sul-americano. Como veremos, tanto o caso europeu quanto o sul-americano reforçam a importância da mobilização da sociedade civil e da sua interação com o Estado para implementação das ações que reverberam em políticas públicas voltadas para as mulheres. Porém, observamos que as agendas políticas não coincidem e, enquanto nos países nórdicos o sistema social-democrata permitiu a construção de regimes gender egalitarians, a onda rosa latino-americana estimulou a criação de mecanismos institucionais de mulheres que buscaram promover a institucionalização de políticas voltadas para os direitos das mulheres.

Abstract The aim of this paper is to compare the processes of policy-making for women in the welfare state of the Nordic countries with some experiences developed by left-wing parties in Latin America, mainly from the so-called pink wave, with the progressive governments in the region. To do so, we will first make a brief presentation on the typologies of analysis on gender equality in the discussion of public policies and feminism. Then we will present the construction of social welfare schemes in the countries of the North, focusing on how these policies are developed in the Nordic countries. Finally, we will work on the South American case. As we shall see, both the European and the South American case reinforce the importance of the mobilization of civil society and its interaction with the State to implement actions that reverberate in public policies for women. However, we note that the political agendas do not coincide and, while in the Nordic countries the social democratic system allowed the construction of gender egalitarian regimes, the Latin American pink wave stimulated the creation of institutional mechanisms for women that sought to promote the institutionalization of policies focused on women's rights.

Resumen El propósito de este documento es hacer una comparación entre los procesos de formulación de políticas para las mujeres en el Estado Nórdico Social y Bienestar Social con algunos desarrollados por partidos de izquierda en América Latina, principalmente de la llamada ola rosa, con gobiernos progresistas en la región. Con este fin, primero haremos una breve presentación sobre tipologías de análisis de igualdad de género en la discusión de políticas públicas y feminismo. Luego presentaremos la construcción de regímenes de bienestar social en los países del norte, centrándonos en cómo se desarrollan estas políticas en los países nórdicos. Finalmente, trabajaremos en el caso sudamericano. Como veremos, los casos europeos y sudamericanos refuerzan la importancia de movilizar a la sociedad civil e interactuar con el estado para implementar acciones que reverberen en las políticas públicas dirigidas a las mujeres. Sin embargo, observamos que las agendas políticas no coinciden y, mientras que en los países nórdicos el sistema socialdemocrata permitió la construcción de regímenes igualitarios de género, la ola rosa latinoamericana estimuló la creación de mecanismos institucionales de mujeres que buscaban promover la institucionalización de políticas enfocadas en los derechos de las mujeres.
Descritores: Política Pública
Seguridade Social
Direitos da Mulher
Feminismo
Ativismo Político
Equidade de Gênero
-Países Escandinavos e Nórdicos
América do Sul
Estado
Limites: Humanos
Feminino
Tipo de Publ: Revisão
Responsável: BR433.1 - CB/C - Biblioteca Biomédica C


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Id: biblio-950894
Autor: Jara, Lilian; Morales, Sebastian; Mayo, Tomas de; Gonzalez-Hormazabal, Patricio; Carrasco, Valentina; Godoy, Raul.
Título: Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
Fonte: Biol. Res;50:35, 2017. tab, graf.
Idioma: en.
Projeto: Fondo Nacional de Desarrollo Científico y Tecnológico (FONDECYT).
Resumo: Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
Descritores: Neoplasias Ovarianas/genética
Neoplasias da Mama/genética
Genes BRCA1
Predisposição Genética para Doença/genética
Genes BRCA2
Mutação
-América do Sul
América Central
Limites: Humanos
Feminino
Tipo de Publ: Revisão
Responsável: CL1.1 - Biblioteca Central



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