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Abstract Background Prostate cancer (PrCa) is the most frequently diagnosed cancer in men. Variants in known moderate- to high-penetrance genes explain less than 5% of the cases arising at early-onset (

The Boehm system provides a stable standard for transverse flute construction, creating a structured space of conceivable ideas. This space is related to technological and metallurgical advancement, and to the development of flute keys and pads. The system incorporates a “disposition to act”, or a “structured pattern of constraints”. The emergence of extended techniques for transverse flute is an exemplary case for investigating phenomena of transformational creativity, its dependence on cognitive artefacts (e.g., notations, instruments) and the transformation caused to specific conceptual spaces. But technical expansion works with great variability. Hence, we examine paradigmatic examples of the repertoire for transverse flute. In Toru Takemitsu’s Voice (1971), extended technique was developed from vocal parameters related to speech, whereas in Luigi Nono’s Das atmende Klarsein (1981), the flute piece is transformed by an electronic apparatus. In all cases, we observe episodes of transformational creativity, which correspond to the creation of conceptual spaces, whose continuity can be observed in the further development of the repertoire for the instrument.

Prostate cancer (PrCa) involves a large heritable genetic component. Here, the authors perform multivariate fine-mapping of known PrCa GWAS loci, identifying variants enriched for biological function, explaining more familial relative risk, and with potential application in clinical risk profiling.

This article seeks to understand how the construction of the discursive ethos of motherhood takes place in celebrity mommy blogs, analyzing the construction of the ethos through lexicon and argumentation. It uses the theoretical frameworks of Celebrity Studies, Media and Childhood, and Discourse Analysis in the French tradition. We used Content Analysis to analyze the themes that occur in these platforms, that were then selected down to three text on the topic of work-family conciliation, on which we applied the main methodology of the article - Discourse Analysis. We analyse the difference in the representation of celebrity blogs and mommy blogs who became celebrities; the ethos that mothers are trying to portray; and how the children assist in construction that.

This article aims to study the discourse on corporate governance (CG) from the perspective of ethos (lexical route) and the enunciative situation explicited in a published text of a Sustainability Report of a publicly traded multinational, Santander. Theoretical assumptions of Corporate Sustainability, Corporate Governance, Corporate Communications, Rhetoric and Discourse Analysis of French line were addressed. The latter also constitutes the methodology used for the making of research. To undertake this work, three analyzes were performed: data linguistics, arguments and communication strategies used in the text production. The CG is understood as belonging to the social responsibility that makes up the tripod of Corporate Sustainability, along with Environmental and Economic.

Texts enclosed in a period discuss matters of specific interests of the public in general or specific segments of this. Incompanies this does not occur differently. Hence it is essential to produce texts in an effective/efficient line ofargument and build a speech to convince the audience to which it is intended. To understand this phenomenon, itanalyzed the construction of the ethos and enunciation situation, the use of arguments and revealing linguisticelements of the existing note speech at a business magazine. Thus, it was used as theoretical framework:Organizational Communication, Rhetoric/New Rhetoric and French Line Discourse Analysis.

Este texto traz resultados de uma pesquisa sobre a Internet como espaço virtual de aprendizagem. A amostra estudada foi de 80 concluintes de um curso de Extensão para professores. Analisamos os discursos dos fóruns, listas de discussão e e-mails, à luz de categorias, retiradas da obra de Jean Piaget: Predominou a informação adaptada - mostrando interação entre os interlocutores, informando e influindo sobre o comportamento mutuamente, colaborando e discutindo idéias. São atributos indispensáveis para a constituição de "comunidades de aprendizagem virtual", assim como o desenvolvimento de competências como a capacidade de pensar categorialmente, utilizar novos recursos lingüísticos, auto-regular o comportamento e aprendizagem, potencializar determinadas áreas cognitivas, criar novas formas de convívio social, afetivo e cultural.This text brings results of a research about the Internet as a virtual learning environment. The studied sample was a group of 80 students from a teacher extension course. We analyzed speeches from the forums, discussion lists and e-mails, in the light of categories from Jean Piaget's studies. Adapted information prevailed - showing interaction among speakers, informing and mutually influencing behavior, collaborating and discussing ideas. These are indispensable attributes for the constitution of "virtual learning communities", as well as the development of competences such as the capacity to think through categories, use new linguistic resources, regulate one's own behavior and learning, potentiate certain cognitive areas, and create new forms of social, emotional and cultural conviviality.

O objetivo deste estudo é verificar se o ambiente virtual possibilita que os alunos, inseridos no processo de aprendizagem realizado a distância com suporte tecnológico, construam conhecimento através da interação com os outros participantes envolvidos neste mesmo processo. Este estudo foi realizado com um grupo de alunos dos cursos de extensão em Biologia e Geografia, oferecidos pelo Centro de Educação Superior a Distância do Estado do Rio de Janeiro – CEDERJ –, e realizou-se através de respostas obtidas a partir de um questionário semi-estruturado. As respostas obtidas com os questionários provaram que a interação existente nos ambientes virtuais servem para diminuir a distância entre os sujeitos, minimizar o silêncio daqueles que estudam sozinhos e se encontram em espaços distantes, tornando possível a construção do conhecimento. Dessa forma, nossos estudos nos levaram a entender que este modelo educacional deve estar na direção do estímulo que a informação compartilhada e a construção do conhecimento individual e coletivo possam favorecer, garantindo as interações entre o indivíduo e o grupo, visto ser esse o grande desafio educacional em ambientes virtuais de aprendizagem.

The HOXB13 germline variant G84E (rs138213197) was recently described in men of European descent, with the highest prevalence in Northern Europe. The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicating allelic heterogeneity depending on the population. In order to gain insight into the full scope of coding HOXB13 mutations in Portuguese prostate cancer patients, we decided to sequence the entire coding region of the HOXB13 gene in 462 early-onset or familial/hereditary cases. Additionally, we searched for somatic HOXB13 mutations in 178 prostate carcinomas to evaluate their prevalence in prostate carcinogenesis. Three different patients were found to carry in their germline DNA two novel missense variants, which were not identified in 132 control subjects. Both variants are predicted to be deleterious by different in silico tools. No somatic mutations were found. These findings further support the hypothesis that different rare HOXB13 mutations may be found in different ethnic groups. Detection of mutations predisposing to prostate cancer may require re-sequencing rather than genotyping, as appropriate to the population under investigation.

Este trabalho objetiva buscar caminhos que viabilizem a melhoria do ensino de linguagem no sistema educacional brasileiro na escola básica. A forma encontrada de atender a demanda de formação dos professores com vistas ao desenvolvimento lingüístico de seus alunos, no campo da leitura e da escrita foi desenvolver um suporte didático - metodológico computacional múltiplo para formação continuada à distância. Delineamos uma proposta interativa na perspectiva da construção do conhecimento. Foi desenvolvido um protótipo de curso que foi testado em bancada, objetivando também, a formação dos tutores como primeiros alunos do curso. Para tal escolhemos ferramentas de interação com base em estudos de aplicabilidade e funcionalidade. Trabalhar com educação à distância nessa perspectiva diferenciada, amplia as possibilidades de atingir o corpo docente da rede pública num país de dimensões continentais como o Brasil, onde as fronteiras e limitações físicas e metodológicas da escola precisam ser rompidas.

The Pilgrimage of Our Lady of the Agony (Romaria de Nossa Senhora d ´Agonia), in the north of Portugal, draws hundreds of thousands of visitors. Fernandes and Sampaio (2014) suggest that through the years, this event has served to connect residents and visitors alike with the heritage of the region in which the Pilgrimage has become what is arguably one of the biggest regional icons. However, no field research has ever taken place to confirm these claims.In 2014, a pilot study was carried out using a questionnaire as a basis to evaluate the impact of this event in various sectors - environment, culture, economy and tourism. This paper analyses the results from the perspective of tourism. A total of 490 usable questionnaires were collected using a randomly selected sample of residents and visitors alike, which resulted in a sample of 159 residents and 331 visitors. The question is whether visitors are obtaining more knowledge regarding the texture of culture and understanding (Cohen, 2004) and a meaningful experience, which is highly valued in today’s society.Overall, results suggest that the event attracts essentially the local / regional market and has difficulty attracting foreign tourists with 90% of respondents being domestic residents and 38% resul experience, which is highly valued in today’s society.Overall, results suggest that the event attracts essentially the local / regional market and has difficulty attracting foreign tourists with 90% of respondents being domestic residents and 38% residing in the Viana do Castelo geographical area. Findings are expected to lead to a more detailed study, building on the strengths and weaknesses of the methodology applied for the pilot study and possibly extending it to the policy context as well as service providers and the planners of the pilgrimage and processions.