Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on Chromosome 17p

Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial his- tory. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Ibe- ric origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenera- tional distance) and thus pre-dating European migration to Brazil. So far, the founder p. Arg337His haplotype has not been detected outside Brazil, with the exception of two resi- dents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.

As políticas tecnológicas para a educação e a literacia digital: o caso do programa governamental ‘e.escolinha’

Em 2008, o Governo português anunciou a iniciativa ‘e.escolinha’ que contemplou a distribuição de computadores ‘Magalhães’ aos alunos do 1º ciclo do ensino básico, durante três anos letivos consecutivos. Atualmente suspenso, o programa foi bandeira do XVII Governo Constitucional, liderado por José Sócrates, mas alvo de controvérsias por parte da oposição política e da comunidade escolar, sobretudo pela aparente tónica no acesso à tecnologia em vez de uma maior preocupação com a formação e as práticas pedagógicas. Ao abrigo do Plano Tecnológico da Educação, o ‘e.escolinha’ inseria-se numa política mais ampla para o desenvolvimento de uma economia competitiva e dinâmica, através das metas estabelecidas pela União Europeia na Estratégia de Lisboa 2000. A iniciativa foi apresentada ao país com objetivos ambiciosos, no que diz respeito às esperadas mudanças ao nível das práticas pedagógicas dos professores, do processo de aprendizagem das crianças e do sucesso escolar em geral. Porém, a face mais visível da política, embora possa compreender outros matizes, poderá ter ficado reduzida à questão do acesso, apostando pouco nas outras dimensões da literacia digital. Com base em entrevistas realizadas a atores-chave envolvidos no processo de conceção e implementação do ‘e.escolinha’, e nos documentos oficiais que enquadram o programa, o presente artigo pretende dar a conhecer a forma como decisores políticos e empresas enunciam e avaliam os objetivos desta iniciativa. Pretende-se, em particular, conhecer se partilham a ideia de uma deriva tecnológica desta medida governamental ou se entreveem, na mesma, objetivos de literacia digital. Este trabalho decorre do projeto de investigação “Navegando com o Magalhães: Estudo sobre o Impacto dos Media Digitais nas Crianças”, em curso no Centro de Estudos de Comunicação e Sociedade da Universidade do Minho, financiado pela Fundação para a Ciência e Tecnologia ((PTDC/CCI-COM/101381/2008) ) e co-financiado pelo FEDER (COMPETE: FCOMP-01-0124-FEDER-009056).

Relacionamentos em MMORPGs: online e offline

Dissertação de mestrado em Comunicação, Arte e Cultura

Os social media como parte integrante da comunicação empresarial

Relatório de estágio de mestrado em Ciências da Comunicação (área de especialização Publicidade e Relações Públicas)

O dano biológico no direito português: alguns casos práticos

Relatório de atividade profissional de mestrado em Direito dos Contratos e da Empresa

Inclusão de alunos com necessidades educativas especiais na escola regular: perceções de professores do ensino primário na Região Académica IV - Angola

Dissertação de mestrado em Educação Especial (área de especialização em Dificuldades de Aprendizagem Específicas)

O uso do Facebook e as emoções experienciadas pelas crianças na óptica dos seus professores

Atualmente a rede social mais visitada em todo o mundo é o Facebook. Além de nos permitir ter um perfil pessoal podemos partilhar fotos, vídeos, mensagens e outros ficheiros. No Facebook também é permitido criar grupos fechados onde os seus membros podem interagir através de mensagens escritas, de áudio, de vídeo e/ou imagens. Tanto esta rede social quanto os grupos dentro da mesma podem ser usados de forma indevida, mas, por outro lado, também podem ser utilizados para aprender, aprender a fazer, conhecer, desenvolver a linguagem escrita e outras competências. O nosso estudo teve como objetivo conhecer a perceção de educadores de infância e professores de primeiro ciclo do ensino básico relativamente ao uso do Facebook por parte das crianças, bem como às emoções que as crianças manifestam neste uso. Foi um estudo transversal, para o qual construímos e validámos um questionário específico, com questões fechadas sobre o uso da respetiva rede social. O instrumento foi disponibilizado e preenchido online através do Google Forms. A amostra foi de conveniência, tendo sido constituída por 75 indivíduos (69 mulheres, 6 homens) com idades compreendidas entre os 25 e os 56 anos. Os resultados evidenciam que os professores e educadores discordam essencialmente que as crianças aceitem pedidos de amizade e comuniquem pelo chat do Facebook com pessoas que não conhecem, concordando mais que usem para comunicar com familiares e amigos, para aderir a grupos com o objetivo de aprender e que permitem o acesso dos adultos à sua conta. No respeitante as emoções e sentimentos registou-se maior discordância quanto ao facto de as crianças preferirem estar no Facebook do que na presença dos seus amigos e de se sentirem dependentes do uso do mesmo. Porém, observou-se o maior nível de concordância para o facto de ficarem aborrecidas se as obrigarem a sair do Facebook.

Reconstruction of the regulatory network for Bacillus subtilis and reconciliation with gene expression data

The Supplementary Material for this article can be found online at: http://journal.frontiersin.org/article/10.3389/fmicb. 2016.00275

The internet in young people's everyday life: listening to portuguese teens' voices

[Excerto] Children and young people today go about their lives in an increasingly mediatized fashion. Their daily lives are inhabited by a variety of media, ranging from the so-called new media to the more traditional ones, which have an impact on how they perceive, get to kno,v and represent the world, how they interact with others, how they build their identity, and how they study, have fun and organize their daily lives. The media ecosystem, namely the digit.:tl environments, opened up opportunities to communicate, participate, create and produce information. Apparently, children and young people now have more means and opportunities at their disposal to express and share their ideas, interests and opinions, but are they actually taking advantage of such potential? \'(that uses are they making of these means? Does the Internet, in fact, enable the younger generations to create a new communication culture of expression and participation (...)?

Mesenchymal stem cells secretome as a modulator of the neurogenic niche: Basic insights and therapeutic opportunities

Neural stem cells (NSCs) and mesenchymal stem cells (MSCs) share few characteristics apart from self-renewal and multipotency. In fact, the neurogenic and osteogenic stem cell niches derive from two distinct embryonary structures; while the later originates from the mesoderm, as all the connective tissues do, the first derives from the ectoderm. Therefore, it is highly unlikely that stem cells isolated from one niche could form terminally differentiated cells from the other. Additionally, these two niches are associated to tissues/systems (e.g., bone and central nervous system) that have markedly different needs and display diverse functions within the human body. Nevertheless they do share common features. For instance, the differentiation of both NSCs and MSCs is intimately associated with the bone morphogenetic protein family. Moreover, both NSCs and MSCs secrete a panel of common growth factors, such as nerve growth factor (NGF), glial derived neurotrophic factor (GDNF), and brain derived neurotrophic factor (BDNF), among others. But it is not the features they share but the interaction between them that seem most important, and worth exploring; namely, it has already been shown that there are mutually beneficially effects when these cell types are co-cultured in vitro. In fact the use of MSCs, and their secretome, become a strong candidate to be used as a therapeutic tool for CNS applications, namely by triggering the endogenous proliferation and differentiation of neural progenitors, among other mechanisms. Quite interestingly it was recently revealed that MSCs could be found in the human brain, in the vicinity of capillaries. In the present review we highlight how MSCs and NSCs in the neurogenic niches interact. Furthermore, we propose directions on this field and explore the future therapeutic possibilities that may arise from the combination/interaction of MSCs and NSCs.

Fathers’ emotional involvement with the neonate: impact of the umbilical cord cutting experience

Aims. This paper is a report on a study analysing the effect of the umbilical cord cutting experience on fathers’ emotional involvement with their infants. Background. Participation in childbirth offers an opportunity for father and mother to share the childbirth experience, so it is vital that midwives improve the fathers’ participation in this event. Design. A quasi-experimental study with a quantitative methodology was implemented. Methods. One hundred and five fathers were recruited as part of a convenience sample in a Maternity Public Hospital in a Metropolitan City in Portugal, between January and May of 2008. The Bonding Scale, the Portuguese version of the ‘Mother-to-Infant Bonding Scale’ was used to evaluate the fathers’ emotional involvement with the neonate at different moments: before childbirth, first day after childbirth and first month after childbirth. After childbirth, the fathers were divided into three separate groups depending on their umbilical cord cutting experience. Results. The results demonstrate that the emotional involvement between father and child tends to increase during the first days after childbirth and to decrease when evaluated 1 month after birth, for fathers who did not cut the umbilical cord. However, fathers who cut the umbilical cord demonstrate an improvement in emotional involvement 1 month later. Conclusion. Results suggest that the umbilical cord cutting experience benefits the father’s emotional involvement with the neonate, supporting the benefits of his participation and empowerment in childbirth.

Exploitation of Ashbya gossypii for the production of high-value products from glycerol feedstocks

Dissertação de mestrado em Bioengenharia

Perspectivas dos licenciados e mestrandos em relação à inserção no mercado de trabalho

Mestrado em Gestão de Recursos Humanos

A língua como ativo na internacionalização da economia portuguesa

Mestrado em Economia Internacional e Estudos Europeus

The Irish pub as a third place : a sociological exploration of people, place and identity

There is considerable interest in alcohol in Irish society, yet minimal sociologcial understanding of its consumption, particularly of the sites where most drinking occurs: the country's 8750 pubs. Despite widespread public discussions on the role of the pub, there is scant social science evidence to better inform debate. Pubs are central to Irish community and are key sites of social interaction. American sociologist Ray Oldenburg has argued that "third places" (neither workplace nor home) are crucial to the maintenance of the community and the enhancement of social capital. According to Oldenburg, the role of the third place in the community is to provide continuity, regularity, a sense of place - all of which conceptually contribute to the construction of the self, the projection of the self within the public sphere, the distribution of social capital and the generation of a collective identity. The pub is the archetypal third place, but Oldenburg is concerned that modern pubs are less able to provide this vital function. Social scientists have suggested that community is in a state of fragmentation and decline due to changes in modes of social interaction and a decrease in shared spaces, resulting in a weakened connection to place. Community without propinquity has been characterised by social alienation, fragmentation and what Oldenburg refers to as the "problem of place" (13). Third places, and thus the Irish pub, have been particularly affected. In order to increase the sociological knowledge of the pub in Ireland, this project critically engages with the pub to assess the importance that public drinking houses have in the everyday. Moreover, this research sets out to investigate the people/place relationship using the pub as an investigative lens and examine the ways in which people shape place, place shapes people and how that relationship is implicated in the construction of irish identities. Furthermore, this is also an articulation of a cultural shift within Ireland and Irish places whose effects are deep and multi-layered. This project aims to explore the development of the contemporary geography of identity as the irish pub as a third place is transformed or disappears from the social landscape.