Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Purpose: Posterior microphthalmos (MCOP)/nanophthalmos (NNO) is a developmental anomaly characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal recessive form (arMCOP). The gene mutated in arMCOP is not yet known.Methods: Genetic mapping by linkage analysis using microsatellite and single nucleotide polymorphisms, mutation analysis by PCR and sequencing, molecular modellingResults: Having refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in Faroese families, we detected 3 mutations in a novel gene, LOC646960: Patients of 10 different Faroese families were either homozygous (n=22) for c.926G>C (p.Trp309Ser) or compound heterozygous (n=6) for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in patients with arNNO from a Tunisian family. In two unrelated patients with MCOP, no LOC646960 mutation was found. LOC646960 is expressed in the human adult retina and RPE. The expression of the mouse homologue in the eye can be first detected at E17 and is highest in adults. The predicted protein is a 603 amino acid long secreted trypsin-like serine peptidase. c.1066dupC should result in a functional null allele. Molecular modelling of the p.Trp309Ser mutant suggests that both affinity and reactivity of the enzyme towards in vivo substrates are substantially reduced.Conclusions: Postnatal growth of the eye is important for proper development of the refractive components (emmetropization), and is mainly due to elongation of the posterior segment from 10-11 mm at birth to 15-16 mm at the age of 13 years. Optical defocus leads to changes in axial length by moving the retina towards the image plane. arMCOP may theoretically be explained, in line with the expression pattern of LOC646960, by a postnatal growth retardation of the posterior segment.

Design effect and interviewer effects: Evidence from the Spanish ESS3-2006 Data

In 2007 the first Quality Enhancement Meeting on sampling in the European SocialSurvey (ESS) took place. The discussion focused on design effects and inteviewereffects in face-to-face interviews. Following the recomendations of this meeting theSpanish ESS team studied the impact of interviewers as a new element in the designeffect in the response s variance using the information of the correspondent SampleDesign Data Files. Hierarchical multilevel and cross-classified multilevel analysis areconducted in order to estimate the amount of responses variation due to PSU and tointerviewers for different questions in the survey. Factor such as the age of theinterviewer, gender, workload, training and experience and respondent characteristicssuch as age, gender, renuance to participate and their possible interactions are alsoincluded in the analysis of some specific questions like trust in politicians and trustin legal system . Some recomendations related to future sampling designs and thecontents of the briefing sessions are derived from this initial research.

O Papel da Universidade face ao meio envolvente

O mercado de trabalho actual é mais exigente em conhecimentos e habilidades em confronto com o que aconteceu num passado recente. Como forma de reagir positivamente a esta exigência há uma maior preocupação na formação dos actores económicos, tanto na perspectiva inicial como na contínua. Neste contexto, a educação e a formação estão na base das competências dos indivíduos. Contudo, as competências, face às exigências do mercado de trabalho, não devem ser produzidas para a execução de uma tarefa, mas sim para o indivíduo a possíveis situações diferentes e inesperadas.

Can the trabecular bone score (TBS) be considered as a major clinical risk factor (CRF) of osteoporotic fractures? A meta-like analysis

Abstract: To have an added value over BMD, a CRF of osteoporotic fracture must be predictable of the fracture, independent of BMD, reversible and quantifiable. Many major recognized CRF exist.Out of these factorsmany of themare indirect factor of bone quality. TBS predicts fracture independently of BMD as demonstrated from previous studies. The aim of the study is to verify if TBS can be considered as a major CRF of osteoporotic fracture. Existing validated datasets of Caucasian women were analyzed. These datasets stem from different studies performed by the authors of this report or provided to our group. However, the level of evidence of these studies will vary. Thus, the different datasets were weighted differently according to their design. This meta-like analysis involves more than 32000 women (≥50 years) with 2000 osteoporotic fractures from two prospective studies (OFELY&MANITOBA) and 7 crosssectional studies. Weighted relative risk (RR) for TBS was expressed for each decrease of one standard deviation as well as per tertile difference (TBS=1.300 and 1.200) and compared with those obtained for the major CRF included in FRAX®. Overall TBS RR obtained (adjusted for age) was 1.79 [95%CI-1.37-2.37]. For all women combined, RR for fracture for the lowest comparedwith themiddle TBS tertilewas 1.55[1.46- 1.68] and for the lowest compared with the highest TBS tertile was 2.8[2.70-3.00]. TBS is comparable to most of the major CRF (Fig 1) and thus could be used as one of them. Further studies have to be conducted to confirm these first findings.

O Papel da Universidade face ao meio envolvente

habilidades em confronto com o que aconteceu num passado recente. Como forma de reagir positivamente a esta exigência há uma maior preocupação na formação dos actores económicos, tanto na perspectiva inicial como na contínua. Neste contexto, a educação e a formação estão na base das competências dos indivíduos. Contudo, as competências, face às exigências do mercado de trabalho, não devem ser produzidas para a execução de uma tarefa, mas sim para o indivíduo a possíveis situações diferentes e inesperadas.

Expression of the proto-oncogene c-fos in three-dimensional fetal brain cell cultures and the lack of correlation with maturation-inducing stimuli.

Previous work has shown that aggregating fetal brain cell cultures are able to attain a highly differentiated state, and that their development is greatly enhanced by growth and/or differentiation factors such as epidermal growth factor (EGF), basic fibroblast growth factor (bFGF), and the protein kinase C-activating tumor promoter mezerein. The present study shows that in these 3-dimensional cultures the peptide growth factors EGF and bFGF as well as mezerein are able to induce the expression of the proto-oncogene c-fos. This induction was rapid and transient, in good agreement with observations reported from a wide variety of cell types in vitro. The maximal levels of c-fos mRNA found after stimulation were low in immature cultures and increased greatly as maturation progressed. Of the three factors tested, mezerein was the most potent inducer of c-fos. In contrast to the peptide growth factors EGF and bFGF which were found to induce c-fos only in glial cells, mezerein was stimulatory in glial cells as well as in neurons. A similar cell type specificity has been observed previously for the maturation-enhancing response in immature aggregate cultures. However, in the present study no correlation was found between the degree of c-fos induction and the extent of the maturation-enhancing stimulation. Immature cultures known to be most sensitive and responsive to these maturation-enhancing agents required relatively high doses of peptide growth factors for the induction of c-fos, and the maximal levels of c-fos mRNA elicited were much lower than those in differentiated cultures which did not show any long-term response to these stimuli.(ABSTRACT TRUNCATED AT 250 WORDS)

A Actuação do Psicólogo Escolar face à Problemática do Bullying em Contexto Escolar Estudo nas escolas públicas

O presente trabalho que ora se apresenta teve como objectivo investigar o papel do psicólogo escolar na prevenção/combate ao bullying no contexto escolar, visando esclarecer as manifestações dessa problemática e identificar quais as práticas mais oportunas e eficazes para o seu enfrentamento. Sendo assim, o estudo foi desenvolvido com 4 psicólogos educacionais. Uma amostragem convencional, onde os sujeitos participaram de acordo com a sua disponibilidade. Os dados foram recolhidos através da entrevista, semi-estruturada guiada por um roteiro pré- estabelecido e no tratamento foram submetidos a análise de conteúdos. Os resultados deste estudo indicam que, o bullying é um fenómeno social bastante discutida, e actualmente causa grande preocupação aos agentes educativos. O termo ainda apresenta como uma problemática duvidosa para muitos e um desafio para estes profissionais. Embora, os mesmos, não o tenham estudado têm noção sobre o assunto, recorrendo para o efeito tanto às suas experiências de vida, como aos conhecimentos científicos adquiridos durante as suas formações académicas. Em relação aos factores que levam a prática do bullying prevaleceram a falta de autoridade dos professores, factores relacionados com a vivência familiar, carência afectiva, ausência de limites e a falta de tempo dos pais. Em relação a construção dos projectos pedagógicos, mesmo participando, não se constatava nenhum item relacionado ao tema, apenas procedimentos de carácter preventivo. Em relação às estratégias utilizadas para o combate ao bullying existe um plano que vai de encontro ao aconselhamento, à sensibilização, à orientação, à formação, e à punição juntamente ao concelho disciplinar.

Face à l'éternité / L. Barbedette

Collection : La brochure mensuelle ; 94

Financiamento das Pequenas e Medias Empresas Cabo-verdianas face ao Contexto da Crise Financeira Internacional

O presente trabalho tem como titulo «Financiamento das Pequenas e Médias Empresas face ao Contexto da Crise Financeira Internacional» e ostenta os resultados de uma pesquisa efectuada na cidade da Praia cujo objectivo é analisar os impactos da crise financeira internacional no financiamento das PME’s. Basicamente consiste na análise teórica e genérica de algumas bibliografias, artigos publicados em revistas e na internet conforme consta na nota bibliográfica, que abordam o tema em estudo, pois, daí se extraiu toda a sustentação teórica necessária para o desenvolvimento do estudo pretendido. Tem ainda como pilar a análise dos resultados do inquérito anual às empresas em 2010 que serviram como base para o cálculo da amostra, aplicação de um questionário às PME’s na cidade da Praia com o intuito de recolher informação para a parte prática, e uma entrevista a quatro bancos comerciais a fim de saber se houve medidas de restrição de crédito com a crise financeira internacional. De seguida procedemos ao tratamento da informação recolhida e finalmente a conclusão. Os resultados foram coerentes como se esperava, passamos a conhecer o dinamismo e as dificuldades que enfrentam as PME’s no que tange ao financiamento e o seu agravamento com a crise financeira internacional.

Representações Sociais dos Adolescente Face à Sexualidade

O trabalho que ora apresentamos, constitui a nossa mem oria do m de curso, designado a obten c~ao do grau de Licenciatura em Psicologia, vertente Educa c~ao e Desenvolvimento na Universidade Jean Piaget de Cabo Verde. Tem como tema \ Representa c~oes sociais dos adolescentes face a sexualidade . Este trabalho tem como objectivo analisar as representa c~oes sociais dos adolescentes face a sexualidade. De natureza experimental, foi desenvolvido com 70 adolescentes do 10 o ano da Escola secund aria Claridade- Terra Branca- Praia, sendo que uma turma de 30 alunos do 10 o ano n~ao foram submetidos ao programa de Educa c~ao sexual e a outra turma do 10 o ano composto por 40 alunos foram submetidos ao referido programa. Os sujeitos da amostra responderam a um question ario no ano de 2009, que foi analisado com ajuda do microsoft excel, e tamb em serviu de suporte para a an alise as conversas informais nas turmas durante forma c~ao que decorreu num periodo de 3 meses. Percebeu-se que o tema e discutido entre os adolescentes que tem como principais fontes de informac~ao e representa c~ao os amigos, a m edia, em particular a televis~ao. no entanto, as representa c~oes sociais dos sujeitos da pesquisa est a marcado pela vergonha, medo, o que di culta as discuss~oes com os pais e professores. Os temas virgindade, rela c~ao sexual antes do casamento, homossexualidade, s~ao faladas mais abertamente do que temas como masturba c~ao, primeira vez, por exemplo. As representa c~oes sociais de sexualidade na adolesc^encia e uma mistura dos modelos sociais (tradicionais e cont^emporaneas), ainda n~ao muito estruturadas. E poss vel a rmar que as representa c~oes de sexualidade est~ao associadas as IST, uso de m etodos contraceptivos e preven cao.

General Use of Face-Masks and Respirators to Prevent Novel Influenza A (H1N1, May 1, 2009

During this outbreak of swine influenza, many people have questions regarding the best way to protect themselves from becoming ill with the virus and, if you are ill, how to prevent spread of the disease to others.

Perceptual and semantic contributions to repetition priming of environmental sounds.

Repetition of environmental sounds, like their visual counterparts, can facilitate behavior and modulate neural responses, exemplifying plasticity in how auditory objects are represented or accessed. It remains controversial whether such repetition priming/suppression involves solely plasticity based on acoustic features and/or also access to semantic features. To evaluate contributions of physical and semantic features in eliciting repetition-induced plasticity, the present functional magnetic resonance imaging (fMRI) study repeated either identical or different exemplars of the initially presented object; reasoning that identical exemplars share both physical and semantic features, whereas different exemplars share only semantic features. Participants performed a living/man-made categorization task while being scanned at 3T. Repeated stimuli of both types significantly facilitated reaction times versus initial presentations, demonstrating perceptual and semantic repetition priming. There was also repetition suppression of fMRI activity within overlapping temporal, premotor, and prefrontal regions of the auditory "what" pathway. Importantly, the magnitude of suppression effects was equivalent for both physically identical and semantically related exemplars. That the degree of repetition suppression was irrespective of whether or not both perceptual and semantic information was repeated is suggestive of a degree of acoustically independent semantic analysis in how object representations are maintained and retrieved.

Substance P-like-immunoreactive sensory neurons in dorsal root ganglia of the chick embryo: ontogenesis and influence of peripheral targets.

The expression of substance P (SP) was studied in sensory neurons of developing chick lumbosacral dorsal root ganglia (DRG) by using a mixture of periodic acid, lysine and paraformaldehyde as fixative and a monoclonal antibody for SP-like immunostaining. The first SP-like-immunoreactive DRG cells appeared first at E5, then rapidly increased in number to reach a peak (88% of ganglion cells) at E8, and finally declined (59% at E12, 51% after hatching). The fall of the SP-like-positive DRG cells resulted from two concomitant events affecting a subset of small B-neurons: a loss of neuronal SP-like immunoreactivity and cell death. After one hindlimb resection at an early (E6) or late (E12) stage of development (that is before or after establishment of peripheral connections), the DRG were examined 6 days later. In both cases, a drastic neuronal death occurred in the ispilateral DRG. However, the resection at E6 did not change the percentage of SP-like-positive neurons, while the resection at E12 severely reduced the proportion of SP-like-immunoreactive DRG cells (25%). In conclusion, connections established between DRG and peripheral target tissues not only promote the survival of sensory neurons, but also control the maintenance of SP-like-expression. Factors issued from innervated targets such as NGF would support the survival of SP-expressing DRG cells and enhance their SP content while other factors present in skeletal muscle or skin would hinder SP expression and therefore lower SP levels in a subset of primary sensory neurons.