Search

RESUMO Os programas de intervenção baseados em Treinamento de Habilidades Sociais têm sido pesquisados em diferentes populações, entre elas, a universitária. Este estudo teve como objetivo realizar uma revisão da literatura sobre programas de THS com universitários, publicados em periódicos nacionais e internacionais, enfatizando os instrumentos e delineamentos utilizados, além dos principais resultados e limitações, a partir de 1980. Utilizaram-se as palavras-chave em inglês “social skills training”, “undergraduate”, “graduate students” e “higher education” em seis bases de dados (Capes, ERIC, PHS/RIHS, DOAJ, EBSChost, LILACS, IBICT, WEB OF SCIENCE). Foram encontrados 13 artigos e estes analisados quanto às variáveis de interesse aplicando-se o Protocolo PRISMA. Os resultados mostraram que nove estudos utilizaram o Inventário de Habilidades Sociais como principal instrumento de coleta de dados e tiveram o delineamento experimental. O número de sessões mostrou-se variável entre as intervenções e, em todos os estudos, ocorreu a melhora no repertório de habilidades sociais dos participantes das pesquisas. O presente artigo contribui para a literatura da área ao discutir implicações para a pesquisa e a prática de promoção de habilidades sociais na formação universitária bem como direções para futuras pesquisas que devem considerar o conceito de competência social.

Intervention programs based on Social Skills Training have been researched in different populations, including university students. This study aimed to review the literature about HST programs with university students, published in national and international journals, emphasizing the instruments and designs used, in addition to the main results and limitations, from 1980 onwards. The keywords in English “social skills training”, “undergraduate”, “graduate students” and “higher education” were used in six databases (Capes, ERIC, PHS/RIHS, DOAJ, EBSChost, LILACS, IBICT, WEB OF SCIENCE). Thirteen articles were found and they were analyzed regarding the variables of interest by applying the PRISMA Protocol. The results showed that nine studies used the Social Skills Inventory as the main data collection instrument and had an experimental design. The number of sessions was variable among the interventions and, in all studies, there was an improvement in the social skills repertoire of the research participants. This article contributes to the literature in the area by discussing implications for research and practice in promoting social skills in university education, as well as directions for future research that should consider the concept of social competence.

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Educational laws are historical, occupy important spaces and direct pedagogical activities and, consequently, the initial training of teachers. In this context, Special Education becomes a field of visibility since education is a right for all and students of the Special Education target audience are part of these policies and, consequently, of the educational action of future teachers. Countless researches are carried out uniting this public, but in the context of Social Skills Training (THS), there are still few researches involving this population. Thus, this research aimed to develop, implement and evaluate the effectiveness of a Training in Social and Social Educational Skills, with an emphasis on Special Education, for students of undergraduate courses regarding: 1. The repertoire of social, social and educational skills and social attitudes towards inclusion; 2. The perception of the contribution of educational social and social skills to personal and professional training in the view of the participants; 3. Refining the lesson plans of the participants. The research was characterized as experimental, with a pre- and post-test design with a control group and follow-up after the end of four months of intervention. 26 undergraduate students participated in the Pedagogy, Special Education and Degree in Chemistry courses, with only two males and an average age of 21 years. The THS took place at a public university and had 13 intervention sessions, being the data collection instruments: 1. Questionnaire: Knowledge and Use of Educational Social and Social Skills at school, 2. Social Skills Inventory 2, 3. Inventory of Educational Social Skills, 4. Likert Scale of Social Attitudes towards Inclusion, 5. Weekly Meeting Evaluation Form, 6. Social Evaluation Questionnaire for the Program, and 7. Lesson Plans produced by students. For data analysis, repeated measures ANOVA using SPSS, content analysis and textual analysis using the IRAMUEC software were used. The results showed significant differences between the experimental and control groups in the scores of the Social Skills Inventory 2, Social Educational Skills Inventory and Likert Scale of Social Attitudes towards Inclusion, suggesting that the THS was effective for the participants in the experimental group. The content analysis showed that the participants of the experimental group positively evaluated themselves in the participation of the THS and that this type of intervention can help the reflective practice in future teachers. The lesson plans showed no differences in the pre and post-tests, but they did raise important discussions, such as having the student as the main guiding axis in the elaboration of these plans. For future research it is suggested to test how the groups would behave with a long-term HRT (2 semesters for example) maintaining the scientific rigors of control and experimental groups, how the social skills and educational social skills would be (and if they would be) applied by students in the internship contexts encompassing both their own and their supervisors' views, testing how the THS could impact the application of a lesson plan in an internship context and a longitudinal study that understood the entry and exit repertoires of university students who go through such a THS. As legislações educacionais são históricas, ocupam importantes espaços e direcionam os fazeres pedagógicos e, por consequência a formação inicial de professores. Nesse contexto, a Educação Especial se torna campo de visibilidade uma vez que a educação é um direito de todos e os alunos do público-alvo da Educação Especial fazem parte dessas políticas e, consequentemente, da ação educativa dos futuros professores. Inúmeras pesquisas são realizadas unindo esse público, mas no contexto do Treinamento de Habilidades Sociais (THS) ainda são poucas as pesquisas que envolvam essa população. Assim, a presente pesquisa teve como objetivo elaborar, implementar e avaliar a efetividade de um Treinamento em Habilidades Sociais e Sociais Educativas, com ênfase na Educação Especial, para alunos dos cursos de licenciaturas quanto: 1. Ao próprio repertório de habilidades sociais, sociais educativas e atitudes sociais em relação à inclusão; 2. A percepção de contribuição das habilidades sociais e sociais educativas para a formação pessoal e profissional na visão dos participantes; 3. Ao refinamento dos planos de aula dos participantes. A pesquisa caracterizou-se como experimental, tendo o delineamento de pré e pós-teste com grupo controle e follow-up após o final de quatro meses de intervenção. Participaram 26 licenciandos dos cursos de Pedagogia, Educação Especial e Licenciatura em Química sendo apenas dois do sexo masculino e idade média de 21 anos. O THS ocorreu em uma universidade pública e contou com 13 sessões de intervenção sendo os instrumentos de coleta de dados: 1. Questionário: Conhecimentos e Utilização das Habilidades Sociais e Sociais Educativas na escola, 2.Inventário de Habilidades Sociais 2, 3.Inventário de Habilidades Sociais Educativas, 4. Escala Likert de Atitudes Sociais em Relação à Inclusão, 5. Ficha de Avaliação Semanal dos Encontros, 6. Questionário de Avaliação Social do Programa e, 7. Planos de Aulas produzidos pelos alunos. Para a análise de dados utilizou-se a ANOVA de medidas repetidas por meio do SPSS, análise de conteúdo e análise textual por meio do software IRAMUEC. Os resultados evidenciaram diferenças significativas entre os grupos experimental e controle nos escores do Inventário de Habilidades Sociais 2, Inventário de Habilidades Sociais Educativas e Escala Likert de Atitudes Sociais em Relação à Inclusão sugerindo que o THS foi efetivo para os participantes do grupo experimental. A análise de conteúdo demonstrou que os participantes do grupo experimental se autoavaliaram positivamente na participação do THS e que esse tipo de intervenção pode auxiliar a prática reflexiva em futuros professores. Os planos de aula não apresentaram diferenças no pré e pós-teste, mas suscitaram discussões importantes como, por exemplo, ter o aluno enquanto principal eixo norteador na elaboração desses planos. Para futuras pesquisas sugere-se testar como os grupos se comportariam com um THS de longo prazo (2 semestres por exemplo) mantendo os rigores científicos de grupos controle e experimental, como as habilidades sociais e habilidades sociais educativas seriam (e se seriam) aplicadas pelos alunos nos contextos de estágio englobando tanto a visão dos mesmos como a de seus supervisores, testar como o THS poderia impactar na aplicação de um plano de aula em um contexto de estágio e um estudo longitudinal que compreendesse os repertórios de entrada e saída dos universitários que passassem por um THS desse tipo. CNPq: 141095/2017-2

O presente trabalho tem como objetivo realizar um levantamento de producoes dos ultimos 10 anos acerca da Educacao Inclusiva no Ensino Superior, mostrando o quanto e importante o papel das IES, que tem o papel de proporcionar as pessoas com deficiencia um processo educacional justo e democratico, visando a elaboracao de politicas de inclusao, tanto no espaco arquitetonico quanto pedagogico, garantindo nesse sentido, condicoes de acesso e permanencia dos alunos com deficiencia nas universidades. Assim, com base em dados recentes do Ministerio da Educacao, o trabalho justifica-se pela necessidade de acoes e politicas educacionais que contemplem o Ensino superior com um olhar atento a diversidade humana. A metodologia usada foi a revisao de artigos encontrados nas revistas: Revista Educacao Especial (UFSM) e Revista Brasileira de Educacao Especial (RBEE) de 2008 a 2018. Dos artigos publicados nesse periodo foram encontrados e selecionados 10 trabalhos, que tinham como tema a Inclusao das Pessoas com Deficiencia no Ensino Superior, mostrando as politicas de inclusao e as necessidades de um projeto pedagogico e arquitetonico, alem do preparo dos docentes para atenderem esses alunos com a qualidade de ensino adequada. Os resultados obtidos orientam a elaboracao de acoes inclusivas, como Nucleos de Acessibilidade nas IES, que tem como objetivo melhorar a acessibilidade e a inclusao dos alunos com deficiencia nas universidades do pais. Concluimos que e de suma importância a implementacao de estudos e politicas educacionais que pautem a inclusao de pessoas com deficiencia nas universidades brasileiras, possibilitando a oferta de um ensino de qualidade, com preparacao adequada de gestores e docentes, garantindo o ensino/aprendizagem e futuramente o ingresso no mercado de trabalho.

Introdução: A educação física escolar possui um vasto conteúdo formado pelas manifestações corporais. Os mais comuns - geralmente escolhidos pelos professores, são os esportes coletivos - futebol/futsal, basquetebol, voleibol e handebol, que formam uma monocultura de cinco modalidades. As atividades propostas nas aulas necessitam incluir novas experiências esportivas, maximizando os alcances dos conteúdos da cultura corporal através dos esportes. Objetivo: Verificar as possibilidades da inserção dos esportes de raquete nas aulas de Educação Física Escolar dos anos finais do ensino fundamental, 7º e 8º anos. Métodos: Através de observações da aplicação de atividades em vinte aulas, foi realizada a análise de conteúdo. Resultados: Ao considerar as anotações do diário de campo percebeu-se que inserir novos conteúdos nas aulas é uma barreira a ser ultrapassada. Quebrar o paradigma da monocultura não é uma tarefa fácil, principalmente por existir a dificuldade de aquisição dos materiais direcionados à execução das habilidades de rebatida, que não são comuns no almoxarifado da escola. Mas, como forma de minimizar tais dificuldades, esses materiais podem ser confeccionados pelos próprios alunos, despertando neles a curiosidade e o entusiasmo pela prática de atividades pouco desenvolvidas. Este aspecto facilitador, somado ao fato de que as atividades não são totalmente coletivas, provocou maior aceitação e participação nas aulas. Conclusão: Portanto, a inserção de novos conteúdos nas aulas de educação física é uma tarefa árdua, mas se aplicada com uma metodologia adequada, materiais atraentes e atividades criativas, se torna uma tarefa interessante e incentivadora, proporcionando a adesão dos alunos às aulas.ABSTRACT. The teaching of racket sports in the school environment. Backgorund: The physical education classes involves an extensive variety of bodily activities. The most common - usually chosen by teachers - being team sports, such as soccer, futsal, basketball, volleyball and handball, which form such a monoculture of five modalities. The activities proposed in the classes need to include new sports experiences in order to maximize the scope of bodily culture contents through sports. Objective: To verify the possibility of inserting racquet sports into primary school physical education classes (7th and 8th years). Methods: Through the application of activities in twenty classes, a content analysis was performed. Results: When considering the notes of the field diary it was noticed that inserting new contents in the classes is a barrier to be overcome. Breaking the paradigm of monoculture is not an easy task, mainly because there is the difficulty of acquiring the materials directed to the execution of the batting abilities, which are not common in the school’s warehouse. But as a way to minimize such difficulties, these materials can be made by the students themselves, arousing in them the curiosity and enthusiasm for the practice of underdeveloped activities. This aspect facilitador, somado to reality of activities non are totalmente coletivas, provocou maior aceitação e participação nas aulas. Conclusion: Therefore, the insertion of new contents in physical education classes is an arduous task, but if applied with an adequate methodology, attractive materials and creative activities, it becomes an interesting and encouraging task, allowing the students to join classes.

O contexto de trabalho requer relações interpessoais complexas e em pessoas com deficiência esse aspecto pode ser um desafio. Como a família desempenha importante papel no ensino e manutenção dessas relações elegeu-se, para o presente estudo, mães de jovens e adultos com Trissomia 21 a fim de entender como as habilidades sociais destas podem se relacionar com a trajetória de vida de seus filhos. Participaram da pesquisa cinco mães de jovens e adultos que estavam no mercado de trabalho. Como instrumento de coleta de dados utilizou-se o inventário de habilidades sociais e um questionário. Os resultados pontuaram bons repertórios de habilidades sociais em três mães. Quanto à trajetória de vida, todas as mães receberam o diagnóstico após o nascimento dos filhos, os quais realizaram terapias com outros profissionais. As mães relataram que seus filhos se comunicam de maneira satisfatória, apesar de terem apresentado atraso na linguagem, e a maioria frequentou escola regular. Nos aspectos de interação social foi relatado que os jovens e adultos não apresentam dificuldades. Considera-se que o presente estudo tenha contribuído como sugestão para futuras intervenções com essa população.

RESUMO: Este estudo teve como objetivos: a) comparar o repertório de habilidades sociais de alunos da Licenciatura em Educação Especial da UFSCar que participaram de estágio curricular obrigatório e/ou do Programa Institucional de Bolsas de Iniciação à Docência (PIBID) com o de alunos que não vivenciaram tais experiências; b) comparar o repertório de habilidades sociais dos alunos que trabalharam com o dos que nunca trabalharam; c) correlacionar o repertório de habilidades sociais e variáveis sociodemográficas. A pesquisa ocorreu na universidade, contou com a participação de 75 alunos, com faixa etária entre 18 e 50 anos, sendo 66 do gênero feminino e nove do masculino. Os alunos responderam individualmente ou em grupo ao questionário inicial, questionário socioeconômico e Inventário de Habilidades Sociais. Foram utilizados três testes estatísticos, sendo o Teste t para comparar as habilidades sociais dos participantes que já trabalharam com o dos alunos que nunca trabalharam; o ANOVA para comparar as habilidades sociais entre os grupos; e a correlação de Pearson para verificar correlações entre as variáveis sociodemográficas e habilidades sociais. O estudo aponta melhores resultados entre os alunos que participaram de estágio com diferença estatisticamente significativa para o fator “Autoexposição a desconhecidos e situações novas” e melhor avaliação no fator “Autocontrole da agressividade” entre os que trabalharam. Assim, infere-se que as experiências práticas de estágio e PIBID têm potencial para auxiliar os alunos no aprimoramento de seu repertório de habilidades sociais. Contudo, essas contribuições poderiam ser mais robustas se tais habilidades fossem trabalhadas intencionalmente em disciplinas específicas. ABSTRACT: This study aimed to: a) compare the repertoire of social skills of students from the Teaching Undergraduate Program in Special Education at the Federal University of São Carlos, who participated in the compulsory curricular internship and/or the Teaching Initiation Scholarship Institutional Program (known as PIBID) with students who did not have such experiences; b) compare the repertoire of social skills of students who worked with those who have never worked; c) correlate the repertoire of social skills and sociodemographic variables. The research took place in the University, with the participation of 75 students, aged between 18 and 50 years, with 66 being of the feminine gender and nine of the masculine. The students answered individually or in groups to the initial questionnaire, socioeconomic questionnaire and Social Skill Inventory. Three statistical tests were used, the t-Test to compare the social skills of the participants who had already worked with the students who never worked; ANOVA to compare the social skills among the groups; and the Pearson correlation to verify correlations among the sociodemographic variables and social skills. The study points out better results among the students who participated in the internship with a statistically significant difference for the ‘Self-exposure to strangers and new situations’ factor and a better evaluation of the ‘Self-control of aggressiveness’ factor among those who worked. Thus, it is inferred that practical internship and PIBID experiences have the potential to assist students in improving their repertoire of social skills. However, these contributions could be more robust if such skills were intentionally worked out in specific disciplines.

Com a ampliação das políticas educacionais o processo de alfabetização foi complementado pelo conceito de letramento e, em particular, nos contextos que envolvem a Educação Especial. Por ser relevante e fazer parte do processo de ensino e aprendizagem do aluno, o presente estudo teve como objetivo investigar o que vem sendo pesquisado em revistas brasileiras de educação especial sobre essa temática de alfabetização e letramento para alunos com deficiência intelectual nos últimos dez anos. A pesquisa traz uma revisão bibliográfica utilizando como fonte de dados duas revistas de grande potencial na área da Educação Especial sendo elas: Revista Brasileira de Educação Especial – Associação Brasileira de Pesquisadores em Educação Especial (ABPEE) e Revista Educação Especial (UFSM) nas versões on-line. Foram selecionados um total de 12 artigos, sendo 3 na Revista de Educação Especial e 9 na Revista Brasileira de Educação Especial. Os resultados apontaram lacunas importantes a serem pesquisadas na área e espera-se contribuir para a área de alfabetização e letramento de pessoas com deficiência intelectual. Concluímos, que por se tratar de uma temática relevante e atual no contexto brasileiro, seria sugestivo futuros estudos de revisão sistemática dessa literatura para complementação dos resultados aqui encontrados.

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) With the increasing number of inclusion of students from the target audience of Special Education, there has been an increase in studies related to the topic as well. One of these topics refers to the need to focus on initial and continuing teacher training, which in addition to mastering curriculum knowledge needs to improve their interpersonal skills so that their educational action is more effective. Thus, this study aims to evaluate a curricular activity with experiences in social skills for undergraduate students and Special Education target audience students on their repertoire of social skills and educational social skills and to correlate social skills and abilities of the participants. A total of 19 teachers participated in this study, and the data collection took place in an activity called ACIEPE (Curricular Activities of Teaching, Research and Extension Integration) during 12 meetings, being the first and last meeting destined to apply the measurement instruments for pre and post evaluation – T-Test. As instruments, the Brazilian Criteria Questionnaire, the Social Skills Inventory (IHS-Del Prette), the Inventory of Educational Social Skills for Teachers (IHSE - Prof), the Social Skills Importance Scale, the Evaluation Questionnaire for Social Validation of the Program and Field journal. To the data analysis, the T-Test was performed for the comparison between pre and post-test data, as well as content analysis for the systematization of data from the questionnaires. The data showed that there were no differences in the social skills repertoire in the comparison between pre and post-test, but statistically significant differences were found to two factors related to social educational skills, and regarding to the greater importance attribution of the participants to the Classes of communicative and assertive social skills, advocacy and citizenship. In addition, we found a correlation between some specific items related to the social skills and educational social skills of the participants. In the evaluation of the characteristics of the course, the data pointed to the satisfaction of the participants regarding to the participation and format of the activities. Com o aumento da inclusão de alunos do público alvo da Educação Especial ocorreu um aumento dos estudos relacionados ao tema. Um desses temas refere-se à necessidade de focar na formação inicial e continuada do professor, que além de precisar dominar os conhecimentos curriculares, necessita aprimorar suas habilidades de relacionamento interpessoal para que sua ação educativa seja mais eficaz. Desse modo, este trabalho teve como objetivos avaliar uma atividade curricular com vivências em habilidades sociais para alunos dos cursos de licenciatura e professores de alunos do Público Alvo da Educação Especial sobre seu repertório de habilidades sociais e habilidades sociais educativas e correlacionar as habilidades sociais e habilidades sociais educativas dos participantes. Participaram da pesquisa 19 professores e a coleta de dados ocorreu em uma atividade denominada ACIEPE (Atividades Curriculares de Integração Ensino, Pesquisa e Extensão) durante 12 encontros, sendo o primeiro e último encontro destinados a aplicação dos instrumentos de medida para a avaliação pré e pós-teste. Como instrumentos utilizou-se o Questionário Critério Brasil, Inventário de Habilidades Sociais (IHS-Del Prette), Inventário de Habilidades Sociais Educativas para Professores (IHSE – Prof), Escala de importância das Habilidades Sociais, Questionário de Avaliação para Validação Social do Programa e Diário de Campo. Para a análise dos dados foi realizado o Teste T para a comparação entre dados de pré e pós-teste e, ainda, análise de conteúdo para sistematização dos dados provenientes dos questionários. Os dados apontaram que não houve diferenças no repertório de habilidades sociais na comparação entre pré e pós-teste, mas foram encontradas diferenças estatisticamente significativas para dois fatores relacionados às habilidades sociais educativas e, ainda, com relação à maior atribuição de importância dos participantes para as classes de habilidades sociais comunicativas e assertivas, de defesa de direitos e cidadania. Também, encontrou-se correlação entre alguns itens específicos relacionados às habilidades sociais e habilidades sociais educativas dos participantes. Na avaliação quanto às caraterísticas do curso, os dados apontaram para a satisfação dos participantes com relação à participação e formato das atividades.

Melanoma is a highly aggressive cancer, accounting for up to 75% of skin cancer deaths. A small proportion of melanoma cases can be ascribed to the presence of highly penetrant germline mutations, and approximately 40% of hereditary melanoma cases are caused by CDKN2A mutations. The current study sought to investigate whether the presence of germline CDKN2A mutations or the occurrence of cutaneous melanoma would result in constitutive genome-wide DNA methylation changes. The leukocyte methylomes of two groups of melanoma patients (those with germline CDKN2A mutations and those without CDKN2A mutations) were analyzed together with the profile of a control group of individuals. A pattern of DNA hypomethylation was detected in the CDKN2A-negative patients relative to both CDKN2A-mutated patients and controls. Additionally, we delineated a panel of 90 CpG sites that were differentially methylated in CDKN2A-mutated patients relative to controls. Although we identified a possible constitutive epigenetic signature in CDKN2A-mutated patients, the occurrence of reported SNPs at the detected CpG sites complicated the data interpretation. Thus, further studies are required to elucidate the impact of these findings on melanoma predisposition and their possible effect on the penetrance of CDKN2A mutations.

Aim: This work evaluates a possible causative role for germline copy number variants (CNVs) in melanoma predisposition. Patients & methods: A total of 41 melanoma-prone Brazilian patients were investigated for CNVs using 850K single nucleotide polymorphism arrays. Results: Ten rare CNVs were identified in nine patients, comprising 54 known genes, mostly related to cancer. In silico analyses revealed gene enrichment for cellular development and growth, and proliferation, highlighting five genes directly associated with the melanoma phenotype (ANGPT1, IDH1, PDE5A, HIST1H1B and GCNT2). Conclusion: Patients harboring rare CNVs exhibited a decreased age of disease onset, in addition to an overall higher skin cancer predisposition. Our findings suggest that rare CNVs contribute to melanoma susceptibility, and should be taken into account when investigating cancer risk factors.

O ensino colaborativo é considerado uma estratégia essencial para o processo de inclusão escolar de alunos com deficiência, pois leva como requisito o trabalho conjunto do professor da educação regular e o professor do ensino especial. Esse modelo de ensino deve ser compreendido como uma forma de educação em que todos os envolvidos sejam responsáveis pelo processo de desenvolvimento e inclusão do aluno. O objetivo deste estudo foi realizar uma revisão sistemática dos artigos publicados pela Revista Brasileira de Educação Especial e Revista de Educação Especial nos últimos 10 anos, com o tema ensino colaborativo e foco no trabalho do psicólogo, no campo da inclusão, e sua contribuição no contexto escolar. A metodologia utilizada para o presente estudo foi a revisão sistemática articulada a revisão bibliográfica. Frente ao estudo realizado percebe-se que o número de estudos com a temática ensino colaborativo em relação a parceria entre psicólogo e especialista são praticamente inexistentes. Conclui-se que o presente estudo pode contribuir como incentivo e realização de pesquisas nessa área sendo, portanto, relevante para aprofundar e possibilitar estudos sobre o ensino colaborativo e o trabalho do psicólogo na educação especial.

Hepatoblastomas (HB) are embryonal tumors of the liver with histological features that resemble different stages of liver differentiation. The identification of molecular pathways involved in HB development can expand the understanding of the connections between disruption of normal differentiation and cancer. Exome sequencing (244K Agilent SureSelect Target Enrichment) analysis was performed for 6 HBs matched with their non tumoral liver tissues (fresh frozen tissues). Bioinformatic analysis of exome data identified somatic variants in 69 genes which were chosen for validation using a target sequencing panel (SureSelectXT Target Enrichment System for Illumina Paired-End Sequencing Library). The gene panel was composed of the detected 69 genes and other 48 genes related with HB or cancer, and it was used to investigated additional 13 HB samples as a validation group. 60% of the patients were male, and the mean age at diagnosis was 36 months. 13% of this cohort presented pulmonary metastasis. All patients received pre-surgery chemotherapy (SIOPEL and COG protocol). Results: A total of 71 somatic rare coding mutations (missense and loss-of-function) were validated in 53 genes considering the entire HB group. The somatic analysis reveals pathogenic mutations in the CTNNB1 gene and a recurrent missense mutation in the CX3CL1 gene; the role of these mutations was explored by IHQ studies of their proteins as well as by gene expression analysis by RT-PCR. We also used results from Illumina 450k to evaluated the methylation levels of CX3CL1 and CX3CR1 genes. Methylation values for CpG sites in each sample were measured as β-and CpG sites were grouped into categories, promoter (1stExon; 5'UTR; TSS1500; TSS200) or gene body, information provided by Illumina, based on UCSC data (GRhC 37). The methylation level of each category was obtained by averaging the β-values of all CpGs mapped in the category for each gene, followed by Wilcoxon test correction by calculating the false discovery rate (FDR). Conclusion: Most investigated HBs carry few potentially pathogenic genetic mutations (≤ 5 mutations). This observed low frequency of somatic mutations is a result similar to previous studies. The proposed explanation is based on the fact that pediatric tumors would originate from precursor cells with pluripotent characteristics; therefore, such tumors may require fewer mutations than adult solid tumors to develop. The congenital HB case of our cohort is discrepant from this scenario since a relatively high number of somatic mutations were found compared to the HB group. To our knowledge, this is the first comprehensive genomic characterization of Brazilian HBs. Next steps include expanding the casuistry of exome sequenced tumors, including two cases of HB associated with Hirschprung disease. Grants: FAPESP (2016/04785-0; 2017/11212-0), FAPESP (2013/08028-1), CNPq (141625/2016-3). Citation Format: Talita F. Aguiar, Tatiane Rodrigues, Maria Prates, Fernanda Aparecida dos Santos, Gustavo Fernandes, Cecília Maria Lima da Costa, Isabela Werneck da Cunha, Monica Cypriano, Silvia Regina Caminada de Toledo, Jorge Estefano S. de Souza, Eugênia Valadares, Raquel Borges, Vicente Odone, Israel Tojal, Dirce Carraro, Carla Rosenberg, Ana C.V. Krepischi. Genomic studies of Brazilian patients with hepatoblastoma: Insight into somatic mutations using whole-exome sequencing [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 2072.

Hepatoblastomas (HB) are embryonal tumors of the liver with histologic features that resemble different stages of liver differentiation. Molecular data on HB tumorigenesis are still scarce because of its rarity. The identification of molecular pathways involved in HB development can expand the understanding of the connections between disruption of normal differentiation and cancer. Exome sequencing is a powerful tool to identify somatic mutations in tumors, possibly related to cancer development. We performed a whole-exome sequencing in a discovery cohort of 6 HBs and their paired non-tumoral adjacent liver tissues (capture method 244K Agilent SureSelect Target Enrichment). Bioinformatic analysis of the exome data identified 76 rare somatic variants in coding sequences of 69 genes, which were validated using a target sequencing panel covering the affected genes (SureSelectXT Target Enrichment System for Illumina Paired-End Sequencing Library). These 69 genes and other 48 genes related with HB or cancer were also investigated, in addition to 13 HBs as a validation group. A total of 64 rare somatic mutations in 53 genes were validated in all hepatoblastomas. Four different pathogenic mutations in the CTNNB1 gene were disclosed in five tumors. Immunohistochemistry analysis of β-catenin was carried out in eight of the sequenced tumors as well as in a tissue microarray consisting of 19 novel hepatoblastomas cases. The constitutive activity of Wnt-β-catenin pathway, which is caused by the gain-of-function mutations of CTNNB1, was confirmed by the study of protein expression, which shows the accumulation of β-catenin in the nucleus. In addition, CX3CL1 gene was found to be somatically mutated in two different tumors; however, CX3CL1 gene expression was not altered in mutated tumors. We are currently investigating the possible role of CX3CL1 and its receptor (CX3CR1) in hepatoblastomas. Our data highlighted a relatively stable tumoral genome in this type of pediatric liver tumors, which present a small number of potentially pathogenic mutations, a feature that is also a hallmark of adult liver cancer. Grants: FAPESP (2016/04785-0), FAPESP (2013/08028-1), CNPq (141625/2016-3). Citation Format: Talita Aguiar, Tatiane Rodrigues, Cecília Maria Lima da Costa, Isabela Werneck, Monica Cypriano, Silvia Regina Caminada de Toledo, Jorge Estefano Santana de Souza, Israel Tojal, Dirce M Carraro, Carla Rosenberg, Ana Krepischi. Insights into the somatic mutation burden of hepatoblastomas using whole exome sequencing [abstract]. In: Proceedings of the AACR International Conference held in cooperation with the Latin American Cooperative Oncology Group (LACOG) on Translational Cancer Medicine; May 4-6, 2017; São Paulo, Brazil. Philadelphia (PA): AACR; Clin Cancer Res 2018;24(1_Suppl):Abstract nr A18.

Os tumores malignos hepáticos são raros nas crianças, sendo o tumor embrionário hepatoblastoma a neoplasia hepática mais comum em crianças abaixo dos 5 anos e, ainda assim, responsável por apenas 1% dos tumores incidentes nessa faixa etária. Devido, entre outros fatores, à sua baixa incidência, o hepatoblastoma é um tumor ainda pouco caracterizado a nível molecular. O presente trabalho contemplou três frentes de análises moleculares em hepatoblastomas: análise de alterações em número de cópias (através da técnica array-CGH), investigação de mutações somáticas em regiões codificadoras (sequenciamento de exoma por next-generation) e delineamento de perfil global de metilação de DNA (beadarrays). Encontramos um baixo número de alterações em número de cópias, na maioria ganhos de grande extensão cromossômica, evidenciando uma baixa instabilidade cromossômica em comparação ao encontrado em outros tumores sólidos de adultos. Uma região em 2q24 previamente associada a um pior prognóstico em hepatoblastomas foi encontrada como ganho de alta amplitude (amplicon). A análise de expressão gênica na área destacou 5 dos 48 genes como super-expressos em nossas amostras de hepatoblastomas (DAPL1, ERMN, GALNT5, SCN1A e SCN3A). Foi observada também uma baixa ocorrência de mutações somáticas não-sinônimas, quando comparada à magnitude de variações encontradas em outros tumores sólidos de adultos. Descrevemos uma nova mutação não-sinônima danosa no exon 3 do gene CTNNB1 (beta-catenina), marcador molecular de destaque em hepatoblastomas, que provavelmente desenvolve um papel importante na tumorigênese deste tipo de neoplasia. Dentre a lista de alterações somáticas encontradas, cabe destacar o enriquecimento da via Wnt, via da beta-catenina, já bem estudada em hepatoblastomas e que apresenta correlação tanto com desenvolvimento embrionário como com o processo de carcinogênese. Destacamos uma lista de mutações somáticas não-sinônimas presentes com boa cobertura em nossos experimentos, e ausentes ou presentes em baixa frequência (< 1%) na população. O presente estudo é o pioneiro na análise de alterações globais no padrão de metilação de citosinas em hepatoblastomas, e revelou um padrão incomum de hipometilação global nos tumores, não associado à metilação de regiões repetitivas LINE-1; especificamente, hepatobastomas apresentam um nível intermediário entre o encontrado para os fígados maduros e aquele encontrado para os fígados fetais. Tal achado dá suporte ao modelo no qual a tumorigênese do hepatoblastoma recapitularia fases do desenvolvimento fetal do fígado. Foram destacados 11 genes que apresentaram padrão de metilação de DNA diferencial em seus promotores. Em suma, nossos achados revelam que o tumor embrionário hepatoblastoma apresenta relativa estabilidade genética, com uma frequência menor de alterações (alterações em número de cópias e mutações somáticas em regiões codificadoras) que tumores sólidos de adultos. Simultaneamente, foi detectado um padrão marcante de hipometilação global de DNA associado ao tumor, evidenciando a importância de aspectos epigenéticos em sua tumorigênese Hepatic malignant tumors are rare in children, the embryonal tumor hepatoblastoma is the most common liver cancer in children under 5 years old but, in spite of that, accounts for only 1% of incident tumors in this age group. Due to its low incidence, among other factors, hepatoblastoma is a tumor poorly characterized at molecular level. This study included three approaches of molecular analyzes in hepatoblastomas: examination of copy number alterations (through array-CGH technique), investigation of somatic mutations in coding regions (next-generation exome sequencing) and determination of the global DNA methylation profile (bead arrays). We found a low frequency of copy number alterations, mostly consisting of large extent chromosomal gains, reflecting lower chromosomal instability than other solid adult tumors. A region at 2q24, previously associated with worse prognosis in hepatoblastomas, was found amplified in high amplitude (amplicon). Gene expression analysis of the 48 genes comprised in the amplicon segment highlighted five genes as overexpressed (DAPL1, ERMN, GALNT5, SCN1A and SCN3A). We also observed a low frequency of non-synonymous somatic mutations in our hepatoblastomas samples compared to the amount of variation found in other adult solid tumors. We described a predicted harmful non-synonymous mutation in exon 3 of CTNNB1 gene (beta-catenin), the best characterized molecular marker in hepatoblastomas. The list of somatic alterations points to a remarkable enrichment of genes from the Wnt pathway, which is well-studied in hepatoblastomas and is associated both with embryonic development and with the process of carcinogenesis. We highlighted a list of non-synonymous somatic mutations that presented high coverage in our experiments, and were absent or present at low frequency (

BackgroundThe etiology of prenatal-onset short stature with postnatal persistence is heterogeneous. Submicroscopic chromosomal imbalances, known as copy number variants (CNVs), may play a role in growth disorders.ObjectiveTo analyze the CNVs present in a group of patients born small for gestational age (SGA) without a known cause.Patients and methodsA total of 51 patients with prenatal and postnatal growth retardation associated with dysmorphic features and/or developmental delay, but without criteria for the diagnosis of known syndromes, were selected. Array-based comparative genomic hybridization was performed using DNA obtained from all patients. The pathogenicity of CNVs was assessed by considering the following criteria: inheritance; gene content; overlap with genomic coordinates for a known genomic imbalance syndrome; and overlap with CNVs previously identified in other patients with prenatal-onset short stature.ResultsIn 17 of the 51 patients, 18 CNVs were identified. None of these imbalances has been reported in healthy individuals. Nine CNVs, found in eight patients (16%), were categorized as pathogenic or probably pathogenic. Deletions found in three patients overlapped with known microdeletion syndromes (4q, 10q26, and 22q11.2). These imbalances are de novo, gene rich and affect several candidate genes or genomic regions that may be involved in the mechanisms of growth regulation.ConclusionPathogenic CNVs in the selected patients born SGA were common (at least 16%), showing that rare CNVs are probably among the genetic causes of short stature in SGA patients and revealing genomic regions possibly implicated in this condition.

Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development., Highlights • We report a boy with 7q-, dental developmental abnormalities and sacral agenesis. • We propose novel roles for SHH gene related to dental developmental abnormalities. • The MNX1 gene may be associated with caudal deficiency sequence in 7q- patients. • HTR5A and EN2 may be related to abnormal brain development in 7q- patients.

Lymphovascular invasion (LVI) and histologic grade are clinical parameters of high prognostic value in breast cancer and indicate the level of tumor aggressiveness. Many studies have focused on the association of breast cancer subtypes with gene expression and chromosomal profiles, but considerably less genomic information is available regarding traditional prognostic factors such as histologic grade and LVI. We studied by array-CGH a group of 57 invasive ductal carcinomas of the breast to outline the DNA copy number aberration (CNA) profile linked to high histologic grades and LVI. Selected CNAs were validated using real-time quantitative PCR (qPCR). Furthermore, gene expression analysis was performed in a subset of 32 of these tumors, and findings were integrated with array-CGH data. Our findings indicated an accumulation of genomic alterations in high-grade breast tumors compared to low-grade samples. Grade III tumors showed higher number of CNAs and larger aberrations than low-grade tumors and displayed a wide range of chromosomal aberrations, which were mainly 5p, 8q, 10p, 17q12, and 19 gains, and 3p, 4, 5q proximal, 9p, 11p, 18q, and 21 losses. The presence of LVI, a well-established prognostic marker, was not significantly associated with increased genomic instability in comparison to breast tumors negative for LVI, considering the total number of chromosomal alterations. However, a slightly increase in the frequency of specific alterations could be detected in LVI-positive group, such as gains at 5p, 16p, 17q12, and 19, and losses at 8p, 11q, 18q, and 21. Three newly reported small-scale rearrangements were detected in high-risk tumors (LVI-positive grade III) harboring putative breast cancer genes (amplicons at 4q13.3 and 11p11.2, and a deletion at 12p12.3). Furthermore, gene expression analysis uncovered networks highlighting S100A8, MMP1, and MED1 as promising candidate genes involved in high-grade and LVI-positive tumors. In summary, a group of genomic regions could be associated with high-risk tumors, and expression analysis pinpointed candidate genes deserving further investigation. The data has shed some light on the molecular players involved in two highly relevant prognostic factors and may further add to the understanding of the mechanisms of breast cancer aggressiveness. Electronic supplementary material The online version of this article (doi:10.1007/s13277-014-2786-z) contains supplementary material, which is available to authorized users.

ABSTRACT Aim: Cytogenetic data of hepatoblastomas, a rare embryonal tumor of the liver, mostly consist of descriptions of whole-chromosome aneuploidies and large chromosome alterations. High-resolution cytogenetics may provide clues to hepatoblastoma tumorigenesis and indicate markers with clinical significance. Patients & methods: We used array-CGH (180K) to screen for genomic imbalances in nine hepatoblastomas. Additionally, we investigated the expression pattern of selected genes exhibiting copy number changes. Results: Analysis showed mainly whole-chromosome or chromosome-arm aneuploidies, but some focal aberrations were also mapped. Expression analysis of 48 genes mapped at one 10 Mb amplification at 2q24 revealed upregulation of DAPL1, ERMN, GALNT5, SCN1A and SCN3A in the set of tumors compared with differentiated livers. Conclusion: These genes appear as candidates for hepatoblastoma tumorigenesis.

The majority of familial cancer remains with unknown genetic aetiology. Issues impairing the discovery of new genes in complex diseases such as cancer include multifactorial origin, incomplete penetrance of the disease and late-onset. The authors present an outline of the contribution of constitutive deoxyribonucleic acid copy number variations (CNVs) in cancer predisposition. Even though the mechanisms by which germline CNVs influence disease are hitherto largely speculative, nowadays it is consensual that they play a major role in a range of human pathologies. Point mutations have been far more commonly described, mainly because sequencing is the first-tier diagnostic test, but deletions and duplications of known cancer genes have been reported as an alternative mechanism for cancer susceptibility. Additionally, CNV screening in familial cancer cohorts with unknown genetic aetiology has pointed to new candidate genes for high cancer risk. Therefore, this type of genomic variation must be taken into account in the cancer risk assessment. Key Concepts: Structural variation, including copy number variation (CNV), is responsible for a large fraction of the genetic diversity of the human genome. CNVs can be inherited in a Mendelian fashion or occur de novo. Germline CNVs play an important role in a range of human pathologies through several mechanisms, mainly affecting gene dosage or function. Nearly half of the approximately 100 Mendelian cancer predisposition genes were also reported as rare pathogenic germline CNVs. Next-generation sequencing (NGS) combined with automated high throughput data analysis is the most promising approach for elucidating the contribution of both CNVs and point mutations to cancer predisposition. Keywords: structural variation; CNV; cancer predisposition; germline alterations; next-generation sequencing

// Mariana Maschietto 1, * , Tatiane Cristina Rodrigues 2, * , Andre Yoshiaki Kashiwabara 3 , Erica Sara Souza de Araujo 4 , Talita Ferreira Marques Aguiar 4 , Cecilia Maria Lima da Costa 5 , Isabela Werneck da Cunha 6 , Luciana dos Reis Vasques 2 , Monica Cypriano 7 , Helena Brentani 8 , Silvia Regina Caminada de Toledo 7 , Peter Lees Pearson 2 , Dirce Maria Carraro 4 , Carla Rosenberg 2 , Ana C.V. Krepischi 2 1 Brazilian Biosciences National Laboratory (LNBio), Brazilian Center for Research in Energy and Materials (CNPEM), Campinas, Brazil 2 Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil 3 Universidade Tecnologica Federal do Parana, Campus Cornelio Procopio, Parana, Brazil 4 International Research Center, A. C. Camargo Cancer Center, Sao Paulo, Brazil 5 Department of Pediatric Oncology, A. C. Camargo Cancer Center, Sao Paulo, Brazil 6 Department of Pathology, A. C. Camargo Cancer Center, Sao Paulo, Brazil 7 Department of Pediatrics, Pediatric Oncology Institute (GRAACC), Federal University of Sao Paulo, Sao Paulo, Brazil 8 Department of Psychiatry, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil * These authors have contributed equally to this work Correspondence to: Ana C.V. Krepischi, email: ana.krepischi@ib.usp.br Keywords: DNA methylation; embryonal tumor; hypomethylation; cell differentiation arrest; hepatoblastoma Received: March 08, 2016 Accepted: December 05, 2016 Published: December 25, 2016 ABSTRACT Hepatoblastomas are uncommon embryonal liver tumors accounting for approximately 80% of childhood hepatic cancer. We hypothesized that epigenetic changes, including DNA methylation, could be relevant to hepatoblastoma onset. The methylomes of eight matched hepatoblastomas and non-tumoral liver tissues were characterized, and data were validated in an independent group (11 hepatoblastomas). In comparison to differentiated livers, hepatoblastomas exhibited a widespread and non-stochastic pattern of global low-level hypomethylation. The analysis revealed 1,359 differentially methylated CpG sites (DMSs) between hepatoblastomas and control livers, which are associated with 765 genes. Hypomethylation was detected in hepatoblastomas for ~58% of the DMSs with enrichment at intergenic sites, and most of the hypermethylated CpGs were located in CpG islands. Functional analyses revealed enrichment in signaling pathways involved in metabolism, negative regulation of cell differentiation, liver development, cancer, and Wnt signaling pathway. Strikingly, an important overlap was observed between the 1,359 DMSs and the CpG sites reported to exhibit methylation changes through liver development (p

The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order to better characterize genotype-phenotype correlations. We report a 12-year-old girl with a de novo deletion in 6p25.1-pter characterized by high-resolution karyotyping and FISH. Further analysis using oligonucleotide array-CGH revealed a 5.06 Mb 6p25.1-pter deletion associated with a contiguous 1 Mb 6p25.1 duplication. The patient presented normal growth, developmental delay, frontal bossing, severe hypertelorism, corectopia, wide and depressed nasal bridge, mild learning disability, hearing loss and diffuse leukopathy. Additionaly, she presented peculiar phenotypic features reported herein for the first time in 6p25 deletion syndrome: cerebrospinal fluid fistula and bones resembling those seen in 3-M syndrome. The distinctive phenotype of the 6p25 deletion syndrome has been mainly correlated with the FOXC1 and FOXF2 genes deletions, both related mainly to eye development. We also consider the SERPINB6 as a candidate for sensorineural hearing loss and TUBB2A as a candidate for our patient's skeletal features. In addition, as our patient had a duplication including NRN1, a gene related with neurodevelopment, synaptic plasticity and cognitive dysfunction in schizophrenia, we suggest that this gene could be associated with her white matter abnormalities and neurocognitive phenotype.

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features.

Background: Melanoma is a highly aggressive skin cancer; approximately 10% of melanomas are caused by germline mutations, mainly affecting the p16 isoform of the CDKN2A gene (responsible for up to 40% of the familial melanoma). Although other genes exhibiting moderate to high penetrant mutations have been recently associated with melanoma susceptibility, such as CDK4, PALB2, MITF, and TERT promoter, the majority of the melanoma susceptibility remains without a clear genetic etiology. Copy number variations (CNVs) are a common class of structural variants of the human genome, mainly impacting genes that mediate the interaction with environment. However, many rare germline CNVs have been causally associated with diseases, including mental impairment and cancer predisposition. Objective: Aiming to identify new genes potentially related to melanoma predisposition, 34 melanoma-prone patients negative for CDKN2A/CDK4 mutations were investigated for rare germline CNVs. Material and Methods: Patients - patients were ascertained at the A. C. Camargo Cancer Center, Sao Paulo, Brazil; signed informed consents were obtained from all patients. DNA samples from peripheral blood were extracted from 34 unrelated probands fulfilling either the classical criteria for familial melanoma syndrome or based on evidence of a strong genetic predisposition (occurrence of ≥2 primary melanomas). These patients had been previously tested negative for CDKN2A and CDK4 genes. Methods - we performed evaluation of germline CNVs using the CytoSNP-850K (Illumina), analyzing data in the BlueFuse Multi Software v3.2. Selected CNVs were validated by real-time quantitative PCR (qPCR). Results: Among the 34 patients, we detected rare CNVs in 9 of them, mainly large duplications (>230kb) at 4q26-q27, 6p22.1, 8q23.1, 9p24.2, 10q22.3, 12p12.3 and 20p12.1, and deletions affecting 6p24.3 and 19p13.3. Four of these changes in DNA copy number were validated by qPCR using probes for genes mapped within affected regions (ANXA11, ESF1, MGST1 and ANGPT1 genes). Conclusion: We found 26% of the melanoma-prone patients carrying rare germline CNVs that encompass genes potentially associated with melanoma predisposition. Our data suggest that melanoma susceptibility could be originated by a broad spectrum of no recurrent genomic alterations, and part of the genetic etiology of the hereditary melanoma might reside in rare germline copy number changes. In addition to the well-known melanoma genes, germline CNVs, here reported, disclosed other candidate genes to melanoma predisposition deserving further investigation. Funding: This work was supported by grants from FAPESP (2012/21932-6) and the Brazilian National Institute of Science and Technology in Oncogenomics (FAPESP 2008/57887-9, CNPq 573589/08-9). Citation Format: Felipe Fidalgo, Tatiane Rodrigues, Amanda Gonçalves Silva, Luciana Facure, Amanda Nóbrega, Bianca Sá, João Pereira Duprat, Maria Isabel Achatz, Carla Rosenberg, Dirce Maria Carraro, Ana Cristina Krepischi. Rare germline copy number variations in hereditary cutaneous melanoma. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 3418. doi:10.1158/1538-7445.AM2014-3418

Prostate cancer is the most common cancer in males and, despite its high incidence, only limited data are available on which genes or chromosome regions are specifically involved in its initiation and progression. We studied 72 prostate tumor samples by array-CGH, using a platform containing 60.000 oligonucleotides spread over the whole genome (60K Agilent Technologies). No chromosome alterations (CNA) were detected in 13 samples. The array-CGH profiles of the remaining samples showed losses at 8p and gains on 8q, often with narrow peaks of amplification, in ∼50% of the tumors. Additionally, losses at 6q, 13q and 16q were observed in ∼25% of the samples. Although these results are in general agreement with the location of alterations described earlier, the altered chromosome segments are often several megabases long. Mapping of minimum regions altered in several tumors, or pronounced copy number changes in smaller segments, permits a more precise definition of the relevant chromosome regions that are relevant for tumor development and progression. Current prognostic variables include prostatic specific antigen (PSA), the pathologically defined Gleason score (GS) and T-category (of the TNM staging). There is a great heterogeneity within the intermediate risk group and further genetic markers are needed to refine disease diagnosis and prognosis. So, we analyzed the copy number alteration signatures for the intermediate risk group, Gleason 7. In the comparison between samples related as GS 6 versus GS 7, we found that losses on 5q21.1 and gains on 7q11.21 are more frequent in GS 7. In other hand, losses on 22q13.33 are more frequent in GS 7 than in GS 8 and 9, while losses on 6q21 and 18q21 are correlated with GS 8 and 9. Additionally, we have medical follow-up of only 46 of the 72 samples. Fifteen of these patients had present recurrence after treatment. We analyzed this group versus the group with no recurrence. Losses at 2p21, 6q12, 7q36.3 and 16q13 are more frequent in the group of patients in which there is recurrence of the tumor. This suggests that these alterations could also be hallmarks for recurrence. Further studies with array-CGH of prostate tumors samples will ultimately lead to defining much smaller regions of overlap than at present, which in turn will indicate which specific individual genes and/or combinations of genes are the real “drivers” in prostate cancer or could act as hallmarks for prognosis and recurrence. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 1168. doi:1538-7445.AM2012-1168

Resumo As habilidades sociais são de extrema importância dentro das práticas pedagógicas, pois permitem a interação adequada em todo o contexto escolar. Pensando na subclasse específica de dar feedback, este estudo objetivou verificar se o ensino específico dessa subclasse de habilidades sociais pode auxiliar ou modificar a frequência de respostas dessa habilidade e interferir no número de solicitações dos alunos durante o período de aula. O estudo caracteriza-se por utilizar um delineamento experimental do tipo ABA e teve como participante uma professora de escola pública estadual de uma cidade do interior do Estado de São Paulo. Para a coleta de dados foram utilizados três protocolos onde eram computados os números de feedbacks e solicitações realizados por professora e alunos, respectivamente. Realizaram-se 13 sessões e o critério para o final das intervenções foi o aumento de 60% do número de feedbacks iniciais. Como resultados, verificou-se o aumento do número de feedbacks positivos. Abstract Social skills are extremely important within pedagogical practices, as they allow adequate interaction throughout the school context. Considering the specific subclass of feedback, this study aimed to verify if the specific teaching of this subclass of social skills can help or modify the frequency of responses of this ability and interfere in the number of requests of the students during the class period. The study is characterized by using an ABA-type experimental design and had as participant a teacher of a state public school in a city in the countryside of the State of São Paulo. For data collection, three protocols were used to compute the numbers of feedbacks and requests made by teacher and students, respectively. There were 13 sessions and the criterion for the end of the interventions was the 60% increase in the number of initial feedbacks. As results, there was an increase in the number of positive feedbacks. Resumen Las habilidades sociales son de extrema importancia dentro de las prácticas pedagógicas, pues permiten la interacción adecuada en todo el contexto escolar. Pensando en la subclase específica de dar feedback, este estudio tuvo por objetivo verificar si la enseñanza específica de esa subclase de habilidades sociales pode ayudar o modificar la frecuencia de respuestas de esa habilidad e interferir en el número de solicitaciones de los alumnos durante el período de clase. El estudio se caracteriza por utilizar un delineamiento experimental del tipo ABA y tuvo como participante una profesora de escuela pública estadual de una ciudad del interior del Estado de São Paulo. Para la recolecta de datos se utilizó tres protocolos en que se computó los números de feedbacks y solicitaciones realizados por profesora y alumnos, respectivamente. Se realizaron 13 sesiones y el criterio para el final de las intervenciones fue el aumento del 60% del número de feedbacks iniciales. Como resultados, se verificó el aumento del número de feedbacks positivos.