TCF7L2 variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population

<p>Abstract</p> <p>Background</p> <p>Genetic polymorphisms of the <it>TCF7L2 </it>gene are strongly associated with large increments in type 2 diabetes risk in different populations worldwide. In this study, we aimed to confirm the effect of the <it>TCF7L2 </it>polymorphism <it>rs7903146 </it>on diabetes risk in a Brazilian population and to assess the use of this genetic marker in improving diabetes risk prediction in the general population.</p> <p>Methods</p> <p>We genotyped the single nucleotide polymorphisms (SNP) rs7903146 of the <it>TCF7L2 </it>gene in 560 patients with known coronary disease enrolled in the MASS II (Medicine, Angioplasty, or Surgery Study) Trial and in 1,449 residents of Vitoria, in Southeast Brazil. The associations of this gene variant to diabetes risk and metabolic characteristics in these two different populations were analyzed. To access the potential benefit of using this marker for diabetes risk prediction in the general population we analyzed the impact of this genetic variant on a validated diabetes risk prediction tool based on clinical characteristics developed for the Brazilian general population.</p> <p>Results</p> <p>SNP rs7903146 of the <it>TCF7L2 </it>gene was significantly associated with type 2 diabetes in the MASS-II population (OR = 1.57 per T allele, p = 0.0032), confirming, in the Brazilian population, previous reports of the literature. Addition of this polymorphism to an established clinical risk prediction score did not increased model accuracy (both area under ROC curve equal to 0.776).</p> <p>Conclusion</p> <p><it>TCF7L2 </it>rs7903146 T allele is associated with a 1.57 increased risk for type 2 diabetes in a Brazilian cohort of patients with known coronary heart disease. However, the inclusion of this polymorphism in a risk prediction tool developed for the general population resulted in no improvement of performance. This is the first study, to our knowledge, that has confirmed this recent association in a South American population and adds to the great consistency of this finding in studies around the world. Finally, confirming the biological association of a genetic marker does not guarantee improvement on already established screening tools based solely on demographic variables.</p

Concepções de professores sobre inclusão escolar e interações em ambiente inclusivo: uma revisão da literatura Conceptions of teachers on school inclusion and inclusive environment interactions: a review of the literature

A educação inclusiva tem sido um desafio para diferentes profissionais que trabalham na promoção do desenvolvimento de alunos com deficiência. Estes têm a escola como um espaço fundamental para promover o desenvolvimento social, emocional e acadêmico, a partir de oportunidades de vivências estimuladoras da interação e mediação para a aprendizagem de significados e sentidos e que contribuem para processos de resiliência. Este estudo analisou o conteúdo de publicações nacionais da última década (2000-2010) sobre concepções de professores a respeito da inclusão de alunos com alguma necessidade educativa especial (NEE) e interações no contexto educacional inclusivo, também identificando fatores facilitadores e impeditivos da efetivação das diretrizes educacionais existentes. Após busca sistemática na Biblioteca Virtual em Saúde - Psicologia (BVS-PSI), com as palavras-chave: professor, educação inclusiva, interação, educação especial, escola, aprendizagem, concepções, deficiência intelectual, mediação, desenvolvimento e relacionamento, 29 artigos foram recuperados e lidos na íntegra. Verificou-se um predomínio de autores da área da Psicologia e de coletas de dados realizadas via entrevista e questionário. Os estudos apresentaram concepções sobre deficiência ligadas a características individuais que causam limitações. A falta de apoio de equipe especializada, de materiais didáticos e assistivos, de formação e preparo foram apontados como principais fatores que dificultam a efetivação dos princípios inclusivos. A literatura mostra a necessidade de capacitação dos professores. Diante disso, sugerem-se novos estudos sobre a saúde do professor e suas concepções sobre a inclusão escolar, além da necessidade de intervenções escolares baseadas na problematização dos determinantes sociais e históricos associados às deficiências apresentadas e ao mal-estar docente.<br>Inclusive education has been a challenge for different professionals engaged in promoting the development of students with disabilities. Schools have been an essential place for promoting social, emotional and academic development, because they enable opportunities for experiences that stimulate interaction and mediation of learning of significant content, while contributing towards resilience processes. This study analyzed the content of national studies published between 2000 and 2010 on teachers' conceptions of inclusion of pupils with educational needs and interactions in the context of inclusive education; it also aimed to identify factors that facilitate and hinder effectiveness of educational guidelines. After a systematic search of the BVS-PSI portal using the keywords teacher, inclusive education, interaction, special education, school, learning, conceptions, mental disability, mediation, development and relationship, 29 articles were encountered. There was a predominance of authors in the field of psychology. Data collection was conducted via interview and questionnaire. The studies showed deficiencies linked to concepts of individual characteristics that may cause limitations. The lack of support from specialized staff, teaching materials and assistive training and preparation were identified as the main factors hindering successful implementation of inclusive principles. The literature shows the need for teacher development. Given the results, the authors suggest further studies on the health of teachers, investigation into their conceptions of inclusion, as well as the need for intervention in schools considering historical and social determinants of disabilities and factors undermining teacher well-being