ABSTRACT
Resumo Introdução: A necessidade premente de formar médicos autônomos e proativos implica novas abordagens didáticas e formas de mediar o conteúdo. Nesse contexto, a utilização de métodos ativos de ensino e aprendizagem pode incrementar o perfil do novo profissional. A Aprendizagem Baseada em Casos (ABC) é uma estratégia fundamentada na capacidade de o estudante relacionar teoria e prática com autonomia e tomada de decisão. A disciplina de genética aborda conteúdos que podem parecer distantes do cotidiano e da prática profissional futura, e, por isso, a necessidade de utilizar estratégias de ensino que facilitem a compreensão da aplicação desse conhecimento na prática médica. Objetivo: O presente trabalho teve por objetivo avaliar a ABC como abordagem pedagógica no processo de ensino-aprendizagem de genética para o curso de Medicina de uma instituição pública. Método: Aplicou-se um protocolo de método ativo composto por nove casos clínicos a 46 estudantes de Medicina da Universidade de Brasília que, posteriormente, foram divididos em nove grupos. Por meio de questionários, avaliaram-se o desempenho e as percepções em relação ao método. Os resultados quantitativos foram analisados por meio do teste t de Student. Resultado: O rendimento do trabalho em grupo foi estatisticamente maior em oito dos nove casos em comparação ao trabalho individual. A atividade foi considerada boa ou muito boa por 76% dos estudantes, e 90% mencionaram que houve aumento da motivação. Além disso, 71,4% destes demonstraram interesse em estudar mais sobre o assunto após a aula, 20% se consideraram capazes de ensinar o assunto a outras pessoas, e 42% avaliaram que acertariam todas ou a maioria das questões caso fossem submetidos a uma nova avaliação. Com relação ao trabalho em equipe, 38% relataram se sentir mais motivados. Por fim, 86% consideraram relevante ou muito relevante a discussão de casos clínicos para a formação profissional. Conclusão: Os resultados demostraram sucesso no uso do método ABC na abordagem de genética, porém apontaram que há dificuldades na utilização de métodos de ensino alternativos à aula expositiva. Apesar disso, fica explícito que a estratégia adotada pode levar à mobilização de conhecimentos prévios em situações da prática profissional.
Abstract Introduction: The pressing need to train autonomous and proactive professionals demands new ways of mediating content. In this context, the use of active teaching and learning methods can improve the profile of the new professional. Case-Based Learning (CBL) is a strategy based on the student's ability to relate theory and practice, with autonomy and decision-making. The discipline of Genetics addresses contents that may seem distant from everyday life and future professional practice, so it is necessary to use teaching strategies that facilitate the understanding of the application of this knowledge in medical practice. Objective: This study aimed to evaluate the CBL as a pedagogical approach in the teaching-learning process of Genetics for Medicine courses in a public institution. Methods: An active methodology protocol that consisted of nine clinical cases was applied to 46 medical students from Universidade de Brasília, who were later divided into nine groups. The performance and perceptions regarding the methodology were evaluated by questionnaires. Quantitative results were analyzed using Student's t test. Results: The performance of group work was statistically higher in 8 of 9 cases compared to individual work. Most students considered the activity good or very good (76%), but approximately half reported no increase in motivation. Moreover, 71.4% felt motivated to learn more about the subject after class and 20% considered they were able to teach the subject to others and 42% assessed they would get all or most of the questions correct if they were submitted to a new assessment. Regarding teamwork, 38% reported feeling more motivated. Finally, 86% considered the discussion of clinical cases relevant or very relevant for professional training. Final considerations: The results show, in general, success in the use of CBL on the study of genetic diseases but point out that there are difficulties in the use of alternative teaching methods to the lecture. Despite this, it is clear that learning based on clinical cases can lead to the mobilization of previous knowledge in situations of professional practice.
ABSTRACT
Abstract Introduction: Reinke's Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions. Objectives: We investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression. Methods: We used array-based comparative genomic hybridization (aCGH, Agilent 4 × 180 K platform) to study eight RE cases. All patients were heavy tobacco users for at least 30 years, and none of them progressed to cancer in the follow-up (>8 years). Two RE presented mild dysplasia, one moderate dysplasia, and no histological alterations were found in the remaining five cases. CNAs were compared with the Database of Genomic Variants (DGV) and genes mapped on altered regions had their functions annotated. Results: Six of eight patients showed different rare copy number alterations on chromosomes 2q37.3, 4q13.1, 4q13.3, 7q11.22, 10p14, and 13q34. A gain of the whole chromosome 8 were detected in one case. Of interest, four of eight RE cases showed copy number imbalances involving genes previously described in several tumor types (RASA3, COL6A3, LINC00707, LINP1, SMR3A, and SMR3B). Conclusion: The genomic imbalances herein found in RE have the potential to contribute to the phenotype but with limited or no risk of cancer. A long-term follow-up in a large series of patients could clarify the mechanisms involved in the malignant progression of RE. Level of evidence: 4.
ABSTRACT
O câncer colorretal (CCR) é a terceira neoplasia mais comum no mundo. Estima-se que 35% dos CCRs são hereditários, no entanto, apenas 5% destes casos são explicados por mutações patogênicas em genes de alta penetrância, A Síndrome de Lynch (SL) é a doença hereditária mais comum associada com o risco de CCR estando associada com mutações germinativas nos genes de reparo a erros de pareamento (Mismatch repair genes - MMR). Neste estudo foram avaliadas as alterações genômicas em 54 pacientes com a SL (critérios clínicos de Amsterdam ou Bethesda) e negativos para mutações patogênicas nos genes MMR (MLH1, MSH2, MSH6 e PMS2), TP53 ou CHEK2 (100delC); com o objetivo de identificar novos genes que poderiam estar associados com a predisposição ao CCR. As variações no número de cópias (Copy number variations - CNVs) foram avaliadas em todos os casos utilizando a plataforma de microarranjos (microarray) Agilent 4X180K, enquanto 26 casos também foram reanalisados com a plataforma Affymetrix CytoScan HD. Em 21 casos foram identificadas apenas CNVs comuns, enquanto 33 pacientes apresentaram 58 CNVs raras. Destas, 43 CNVs raras cobriram genes e foram detectadas em 28 pacientes. Nos casos avaliados com as ambas as plataformas foi possível validar 9 CNVs raras. A análise in silico revelou que 52 dos 81 genes afetados por CNVs raras foram associados com câncer, dos quais 26 estavam relacionados com o CCR...
Colorectal Cancer (CRC) is the third most common cancer worldwide. It is estimatedthat 35% of CRCs are hereditary. However, only 5% of these cases are explained bypathogenic mutations in high-penetrance genes. Lynch Syndrome (LS) is the mostcommon hereditary disease related to CRC risk being associated with germlinemutations in the mismatch repair genes (MMR). In this study, we evaluated genomicalterations in 54 LS patients (Amsterdam or Bethesda clinical criteria) negative forpathogenic mutations in MMR genes (MLH1, MSH2, MSH6 and PMS2), TP53 orCHEK2 (100delC), aiming to identify new genes that might be associated with CRCpredisposition. Copy number variations (CNVs) were assessed in all cases usingAgilent 4x180K microarray platform, while 26 cases were also reanalyzed byAffymetrix CytoScan HD platform. Twenty-one cases presented only commonCNVs, while 33 patients presented 58 rare CNVs. From these, 43 rare CNVs coveredgenes and were detected in 28 patients. Nine rare CNVs were validated in patientsevaluated by both platforms. In silico analysis revealed that 52 of the 81 genesaffected by rare CNVs have been associated with cancer, of these 26 were related toCRC. Among these alterations, an intronic deletion in ROBO1 gene was detected in ayoung patient with CRC with no family history of cancer. Coincidentally, identicaldeletion was found in two unrelated patients with family history of breast cancer,thus providing further evidence of the pathogenic effect of this CNV...