Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.

A onda de calor de Agosto de 2003 e os seus efeitos sobre a mortalidade da população portuguesa

RESUMO - Portugal continental, como outros países europeus, foi afectado por uma onda de calor de grande intensidade no Verão de 2003, com efeitos na mortalidade da população. O excesso de óbitos associados à onda de calor foi estimado pela comparação do número de óbitos observados entre 30 de Julho e 15 de Agosto de 2003 e o número de óbitos esperados se a população tivesse estado exposta às taxas de mortalidade médias do biénio 2000-2001 no respectivo período homólogo. Os óbitos esperados foram calculados com ajustamento para a idade. O número de óbitos observados (O) foi superior ao número esperado (E) em todos os dias do período estudado e o seu excesso global foi estimado em 1953 óbitos (excesso relativo de 43%), dos quais 1317 (61%) ocorreram no sexo feminino e 1742 no grupo de 75 e + anos (89%). A nível distrital, Portalegre teve o maior aumento relativo do número de óbitos (+89%) e Aveiro o menor (+18%). Numa área geográfica contínua do interior do território (Guarda, Castelo Branco, Portalegre e Évora) houve aumentos relativos superiores a 80%. Em termos absolutos, o maior excesso de óbitos ocorreu no distrito de Lisboa (mais cerca de 396) e no do Porto (mais cerca de 183). As causas de morte «golpe de calor» e «desidratação e outros distúrbios metabólicos» tiveram os aumentos relativos mais elevados (razões O/E de, respectivamente, 70 e 8,65). Os maiores aumentos absolutos do número de óbitos ocorreram no grupo das «doenças do aparelho circulatório» (mais 758), nas «doenças do aparelho respiratório» (mais 255) e no conjunto de «todas as neoplasias malignas» (mais 131). No período da onda de calor e no período de comparação, a percentagem dos óbitos que ocorreu nos hospitais (52% e 56%), no domicílio (32 e 33%) e em «outros locais» foi semelhante. A discussão sobre os factores que condicionaram a obtenção dos valores apresentados, relativos ao excesso de óbitos por sexo, grupo etário, distrito, causa e local da morte, permite concluir que os mesmos se afiguram adequados para medir a ordem de grandeza e caracterizar o efeito da onda de calor na mortalidade. O erro aleatório, medido pelos intervalos de confiança, e alguns possíveis erros sistemáticos associados ao período de comparação escolhido não deverão afectar de modo relevante as estimativas.

Brasilian Therevidae (diptera): a checklist and discriptions of species.

95 Specimens representing 12 Species in 5 genera form the basis of this paper. 6 new Species are described, namely: Henicomyia amazonica, n. sp. (Bnazil: Amazonas) , Brachylinga xanthoperra, n. sp. (Brazil:Roraima), Cyclotelus badicrusus, n. sp. (Brazil-.Amazonas; Ecuador: Pichinca), C. silacrusus, n. sp. (Brazil-.São Paulo), Penniverpa alvadusta. n. sp. (Brazil-.Amazonas) and P. alvatra, n. sp. (Brazil-.Roraima) . A check-list of Braziliam Therevidae, based on literature accounts and examined matenial, is ALSO provided. It lists 22 Species in 7 genera, one not formally described. New combinations, and new synonyms ore proposed.

Surrogacy in Portugal

Surrogacy is the arrangement made by at least three people, in order for a surrogate or gestational mother to carry a pregnancy for the two intended parents, with the objective of the former party relinquishing all rights to the child, once the child is born. As it has only been in recent years that that same reproductive method has begun to be commonly accepted due to certain modern scientific developments that thus diminished ethical and moral negative stances, there is still an unsettling legal void (both at a national and international level) in regards to such subsidiary form of reproduction. As such, some countries have not only left their citizens with no choice but to travel abroad in order to enter a surrogacy arrangement (leading to private international law issues on establishing parenthood and nationality of the born child) or to resort to surrogacy within black market conditions. Unfortunately, one of those countries is Portugal as it has been considered, both by its political parties and experts in the area, and by its citizens as not dealing adequately with such theme and thus being poorly equipped to deal with surrogacy, at both a legal and social level. The present paper attempts to analyse Portugal’s current legal perspective by looking at the present efforts being made to contradict the current situation, and thus outline altruistic gestational surrogacy’s tangible future within such nation. In order to also become aware of possible improvements specifically regarding to the full protection of human rights and human dignity as a whole, the United Kingdom’s legal standpoint in relation to surrogacy was also studied. Via direct comparison of both social and legal perspectives, a new approach to altruistic surrogacy is thus proposed with view to suggest a harmonious solution for countries that have at least recognized that the present issue deserves to be duly noticed and that altruistic gestational surrogacy may exist in order to grant protection of human dignity and not to place it in check.

Dynamic range prediction for an electric vehicle

Electric Vehicles (EVs) have limited energy storage capacity and the maximum autonomy range is strongly dependent of the driver's behaviour. Due to the fact of that batteries cannot be recharged quickly during a journey, it is essential that a precise range prediction is available to the driver of the EV. With this information, it is possible to check if the desirable destination is achievable without a stop to charge the batteries, or even, if to reach the destination it is necessary to perform an optimized driving (e.g., cutting the air-conditioning, among others EV parameters). The outcome of this research work is the development of an Electric Vehicle Assistant (EVA). This is an application for mobile devices that will help users to take efficient decisions about route planning, charging management and energy efficiency. Therefore, it will contribute to foster EVs adoption as a new paradigm in the transportation sector.

A perceção dos alunos sobre a Educação Física à entrada do ensino secundário: um estudo comparativo entre o ensino regular e profissional

Relatório de estágio de mestrado em Ensino de Educação Física nos Ensinos Básico e Secundário

A aprendizagem baseada na resolução de problemas na aprendizagem da Geologia: uma intervenção centrada no tópico "Ocupação antrópica e problemas de ordenamento"

Dissertação de mestrado em Ensino de Biologia e Geologia no 3º Ciclo do Ensino Básico e no Ensino Secundário

Analysis and strengthening of carpentry joints

Joints play a major role in the structural behaviour of old timber frames [1]. Current standards mainly focus on modern dowel-type joints and usually provide little guidance (with the exception of German and Swiss NAs) to designers regarding traditional joints. With few exceptions, see e.g. [2], [3], [4], most of the research undertaken today is mainly focused on the reinforcement of dowel-type connections. When considering old carpentry joints, it is neither realistic nor useful to try to describe the behaviour of each and every type of joint. The discussion here is not an extra attempt to classify or compare joint configurations [5], [6], [7]. Despite the existence of some classification rules which define different types of carpentry joints, their applicability becomes difficult. This is due to the differences in the way joints are fashioned depending, on the geographical location and their age. In view of this, it is mandatory to check the relevance of the calculations as a first step. This first step, to, is mandatory. A limited number of carpentry joints, along with some calculation rules and possible strengthening techniques are presented here.

A study on the performance of technology transfer units

Universities are increasingly institutionalizing activities related to technology transfer and one of the main institutional mechanisms that has emerged is the “technology transfer unit” (TTU). Many of them are focusing their activities on the management of the university intellectual property. Studies have investigated factors that seem to affect their performance, but few have looked in detail at internal procedures and techniques that are used in their processes related to technology evaluation and licensing. The aim of this paper is to provide a comprehensive overview of some of the several steps that comprises the processes regarding technology evaluation and licensing, providing an analysis of the critical issues that affect each step of the process. A review of the literature was made, complemented with interviews to seven university TTUs, which was used as a check and a complement to the literature review and as way of perceiving from an insider perspective, the problems and issues that this paper wants to emphasize and to state clearly.

Cinco para ouvir: discursos de ex-reclusos/as sobre a Prisão

Dissertação de mestrado integrado em Psicologia

Development of bioplastics from agro-wastes

Poster

Combining non-dominance, objective-order and spread metric to extend firefly algorithm to multi-objective optimization

In this paper, we propose an extension of the firefly algorithm (FA) to multi-objective optimization. FA is a swarm intelligence optimization algorithm inspired by the flashing behavior of fireflies at night that is capable of computing global solutions to continuous optimization problems. Our proposal relies on a fitness assignment scheme that gives lower fitness values to the positions of fireflies that correspond to non-dominated points with smaller aggregation of objective function distances to the minimum values. Furthermore, FA randomness is based on the spread metric to reduce the gaps between consecutive non-dominated solutions. The obtained results from the preliminary computational experiments show that our proposal gives a dense and well distributed approximated Pareto front with a large number of points.

Inversão do Contencioso: um contributo para o estudo deste regime no seio das providências cautelares

Dissertação de mestrado em Direito Judiciário: Direitos Processuais e Organização Judiciária

Média digitais e lusofonia

É meu propósito, neste texto, discutir a Lusofonia através de um conjunto de conceitos ligados aos média digitais interativos, rompendo os limites da ligação entre produtores e recetores de conteúdos nas relações multi, inter e transculturais. Vou insistir na ideia de que os média digitais interativos significam novas práticas nas relações interculturais: por um lado, formas digitais interativas de comunicação intercultural e, por outro, textualidades multimodais (“hipertextualidades”) na produção do sentido lusófono. O percurso que proponho tem um cariz preponderantemente epistemológico. Tomando a Lusofonia como figura de interesse geoestratégico e cultural e os média digitais como objeto de análise, é minha preocupação fundamental interrogar a inovação, a hibridez e a interatividade digitais e verificar de que modo se articulam com as relações multi, inter e transculturais. Palavras-chave: Lusofonia, comunicação intercultural, média digitais interativos, comunicação multimodal, tecnologia da comunicação, Museu da Língua Portuguesa em São Paulo, Museu Virtual da Lusofonia.

Viver a (e para) aprender: uma intervenção-ação para a promoção do envelhecimento ativo

A intervenção aqui descrita teve como objetivo contribuir para o envelhecimento ativo de usuários de centros-dia/convívio para idosos, desenvolvendo harmoniosamente todas suas dimensões, visando que os utentes fossem autônomos, participativos e ativos. Recorrendo ao paradigma interpretativo-hermenêutico, apoiamo-nos num trabalho de investigação-ação participativa, construído e implementado em dois centros-dia/convívio do conselho da Póvoa de Lanhoso, distrito de Braga, Portugal, e que contou com um total de 25 usuários: 12 no centro de convívio A e 13 no centro de convívio B. O objetivo foi transversal a todas as atividades implementadas, tendo sido alcançado como revelam os resultados satisfatórios obtidos na avaliação da intervenção (e de cada uma das atividades). A avaliação contínua e final permitiu, igualmente, aferir que todas as atividades desenvolvidas foram do agrado dos usuários e que todas lhes possibilitaram novos conhecimentos que os ajudaram na sua vida diária, aumentando, consequentemente, sua qualidade de vida e tornando-os mais autônomos, participativos e ativos.