RESUMO
Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment of carriers of germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent of the population is assisted by the public Unified Health System (SUS), where genetic testing is still unavailable. And few studies were performed regarding the prevalence of HBOC pathogenic variants in this context. Here, we estimated the prevalence of germline pathogenic variants in BRCA1, BRCA2 and TP53 genes in Brazilian patients suspected of HBOC and referred to public healthcare service. Predictive power of risk prediction models for detecting mutation carriers was also evaluated. We found that 41 out of 257 tested patients (15.9%) were carriers of pathogenic variants in the analyzed genes. Most frequent pathogenic variant was the founder Brazilian mutation TP53 c.1010G > A (p.Arg337His), adding to the accumulated evidence that supports inclusion of TP53 in routine testing of Brazilian HBOC patients. Surprisingly, BRCA1 c.5266dupC (p.Gln1756fs), a frequently reported pathogenic variant in Brazilian HBOC patients, was not observed. Regarding the use of predictive models, we found that familial history of cancer might be used to improve selection or prioritization of patients for genetic testing, especially in a context of limited resources.
Assuntos
Neoplasias da Mama , Síndromes Neoplásicas Hereditárias , Neoplasias Ovarianas , Feminino , Humanos , Brasil/epidemiologia , Prevalência , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/diagnóstico , Predisposição Genética para Doença , Proteína BRCA2/genética , Proteína BRCA1/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Carcinoma Epitelial do Ovário , Atenção à Saúde , Mutação em Linhagem Germinativa , Proteína Supressora de Tumor p53/genéticaRESUMO
Maternal consumption of polyphenol-rich foods has been associated with fetal ductus arteriosus constriction (DAC), but safety of chocolate exposure in fetal life has not been studied. This experimental study tested the hypothesis that maternal cocoa consumption in late pregnancy causes fetal DAC, with possible associated antioxidant effects. Pregnant Wistar rats, at the 21st gestational day, received by orogastric tube cocoa (720 mg/Kg) for 12 h, indomethacin (10 mg/Kg), for 8 h, or only water, before cesaren section. Immediately after withdrawal, every thorax was obtained and tissues were fixed and stained for histological analysis. The ratio of the narrowest part of the pulmonary artery to the fetal ductus inner diameter and increased ductal inner wall thickness characterized ductal constriction. Substances reactive to thiobarbituric acid were quantified. Statistical analysis used ANOVA and Tukey test. Cocoa (n = 33) and indomethacin (n = 7) reduced fetal internal ductus diameter when compared to control (water, n = 25) (p < 0.001) and cocoa alone increased ductus wall thickness (p < 0.001), but no change was noted in enzymes activity. This pharmacological study shows supporting evidences that there is a cause and effect relationship between maternal consumption of cocoa and fetal ductus arteriosus constriction. Habitual widespread use of chocolate during gestation could account for undetected ductus constriction and its potentially severe consequences, such as perinatal pulmonary hypertension, cardiac failure and even death. For this reason, dietary guidance in late pregnancy to avoid high chocolate intake, to prevent fetal ductal constriction, may represent the main translational aspect of this study.
Assuntos
Chocolate/efeitos adversos , Permeabilidade do Canal Arterial/etiologia , Canal Arterial/anormalidades , Efeitos Tardios da Exposição Pré-Natal/etiologia , Animais , Constrição Patológica/etiologia , Constrição Patológica/patologia , Canal Arterial/patologia , Permeabilidade do Canal Arterial/patologia , Feminino , Doenças Fetais/etiologia , Doenças Fetais/patologia , Feto/anormalidades , Feto/patologia , Masculino , Exposição Materna/efeitos adversos , Gravidez , Efeitos Tardios da Exposição Pré-Natal/patologia , Ratos , Ratos WistarRESUMO
RESUMO Objetivo: Descrever a implantação de um time de resposta rápida em um grande hospital filantrópico, indicando as questões relevantes para as iniciativas em contextos similares, particularmente na América Latina. Métodos: Em termos gerais, a intervenção consistiu em três componentes principais: (1) uma ferramenta para detecção de agravamento das condições clínicas nas enfermarias gerais; (2) estruturação de time de resposta rápida capaz de atender a todos os pacientes em risco; e (3) monitoramento dos indicadores relacionados à intervenção. Este trabalho empregou quatro ciclos semestrais (Planejar-Fazer-Estudar-Agir), com a finalidade de testar e ajustar a intervenção, entre janeiro de 2013 e dezembro de 2014. Resultados: Entre 2013 e 2014, o time de resposta rápida atendeu 2.296 pacientes. Houve redução não significante da mortalidade de 8,3% no ciclo 1, para 5,0% no ciclo 4; contudo, o número de óbitos permaneceu estável nos ciclos 3 e 4, com frequência de 5,2% e 5,0%, respectivamente. Com relação ao fluxo de pacientes e cuidados críticos continuados − uma premissa do time de resposta rápida −, houve decréscimo no tempo de espera por um leito na unidade de terapia intensiva, com diminuição de 45,9% para 19,0% na frequência de pacientes hospitalizados que não puderam ser imediatamente admitidos após a indicação (p < 0,001), representando melhora no fluxo de pacientes do hospital; ocorreu também aumento no reconhecimento de pacientes para cuidados paliativos, de 2,8% para 10,3% (p = 0,005). Conclusão: A implantação de um time de resposta rápida pode trazer benefícios nos contextos em que ocorrem restrições estruturais, como falta de leitos em unidades de terapia intensiva, porém há necessidade de alguns ajustes.
ABSTRACT Objective: To describe the implementation of a rapid response team in a large nonprofit hospital, indicating relevant issues for other initiatives in similar contexts, particularly in Latin America. Methods: In general terms, the intervention consisted of three major components: (1) a tool to detect aggravation of clinical conditions in general wards; (2) the structuring of a rapid response team to attend to all patients at risk; and (3) the monitoring of indicators regarding the intervention. This work employed four half-year Plan-Do-Study-Act cycles to test and adjust the intervention from January 2013 to December 2014. Results: Between 2013 and 2014, the rapid response team attended to 2,296 patients. This study showed a nonsignificant reduction in mortality from 8.3% in cycle 1 to 5.0% in cycle 4; however, death rates remained stable in cycles 3 and 4, with frequencies of 5.2% and 5.0%, respectively. Regarding patient flow and continuum of critical care, which is a premise of the rapid response system, there was a reduction in waiting time for intensive care unit beds with a decrease from 45.9% to 19.0% in the frequency of inpatients who could not be admitted immediately after indication (p < 0.001), representing improved patient flow in the hospital. In addition, an increase in the recognition of palliative care patients from 2.8% to 10.3% was noted (p = 0.005). Conclusion: Implementing a rapid response team in contexts where there are structural restrictions, such as lack of intensive care unit beds, may be very beneficial, but a strategy of adjustment is needed.
Assuntos
Humanos , Serviços Médicos de Emergência/normas , Equipe de Respostas Rápidas de Hospitais/organização & administração , Melhoria de Qualidade , Hospitais , BrasilRESUMO
Alguns projetos desenvolvidos no âmbito do esporte têm se destacado por apresentarem modelos inovadores. Este estudo focaliza o Projeto Grael e suas relações com o governo, com a indústria e com a universidade. Tem como objetivo geral promover a reflexão sobre o papel do esporte no desenvolvimento de regiões. O modelo teórico da hélice tríplice é utilizado para analisar a participação de diferentes atores. A conclusão aponta que o principal parceiro do projeto é a prefeitura da cidade de Niterói. A atuação das indústrias, basicamente, situa-se no âmbito do patrocínio. A universidade participa de forma tímida.
Some projects developed within the sport have been known for presenting innovative models. This study focuses on the Grael Project and its relations with government, industry and the university. It aims at promoting reflection on the role of sport in developing regions. The theoretical model of the triple helix is used to analyze the participation of different actors. The conclusion shows that the main project partner is the mayor of the city of Niteroi. The performance of industries, basically, is located in the sponsorship. The University participates in a shy way.
Algunos proyectos desarrollados en el deporte han sido conocidos por la presentación de modelos innovadores. Este estudio se centra en el Proyecto Grael y sus relaciones con el gobierno, la industria y la universidad. Su objetivo es promover la reflexión sobre el papel del deporte en las regiones en desarrollo. El modelo teórico de la triple hélice se utiliza para analizar la participación de diferentes actores. La conclusión muestra que el socio principal del proyecto es el alcalde de la ciudad de Niterói. El rendimiento de las industrias, básicamente, se encuentra en el patrocinio. La Universidad participa de una manera tímida.