Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.

Sistema de Informação Geográfica na Internet para apoio à gestão de Infra-estruturas, baseado em ferramentas Open Source

A gestão de infra-estruturas é um processo de coordenação, avaliação sistemática e manutenção efectiva das infra-estruturas relacionadas com os serviços básicos. A gestão eficaz de infra-estruturas exige que a disposição dos equipamentos no meio urbano seja conhecida, bem como sua relação com o uso do solo. Sendo a gestão de infra-estruturas uma questão de natureza espacial, é natural pensar na utilização de um Sistema de Informação Geográfica como ferramenta com potencial de grande utilidade, pois permite a georreferenciação de dados espaciais e sua interligação com atributos alfanuméricos, para além da realização de análises complexas e a possibilidade de simular diversos cenários de modo a propiciar uma tomada de decisão eficaz. O elevado custo das licenças e a especificidade de utilização a nível técnico, tornam-se obstáculos na criação e manutenção de dados geográficos. Contudo os recentes desenvolvimentos em tecnologias da Internet têm contribuído para o acesso, publicação, exploração e distribuição da Informação Geográfica. A utilização de SIG distribuídos na Internet (WebGIS), nomeadamente na vertente livre, pode ser uma solução adequada visto que coloca funcionalidades de SIG ao alcance de utilizadores, através de um simples browser, sem necessidade de investimentos em relação a software ou mesmo em formação técnica especializada. Assim, com este projecto pretende-se a criação de um sistema de Informação geográfico na Internet, utilizando softwares livres, que disponibiliza toda a informação geográfica e alfanumérica das infra-estruturas construídas e sob a responsabilidade do Ministério das Infra-estruturas e Economia Marítima, permitindo a visualização e a realização de pesquisas e operações de análise.

Implementing the intermed in a post-acute care rehabilitation clinic for traumatic injuries: Obstacles and benefits

In 2003, the INTERMED, an instrument to assess biopsycho- social case complexity and to direct care, was introduced in daily clinical practice in the .Clinique romande de réadaptation suvaCare., a national rehabilitation hospital for traumatic injuries, located in the French speaking part of Switzerland. The introduction of the INTERMED was easy to realize and no major obstacles hampered its systematic implementation. Up to now, about 2,000 patients have been evaluated with the INTERMED and are followed for different outcomes. The INTERMED improved not only patients. assessment by including relevant psychosocial aspects of the clinical situation, it also favoured interdisciplinary communication, enhanced work satisfaction of the nursing staff and allowed early identification and adaptation of treatment for the injured patient showing a high degree of case complexity. Upon follow up, patients with a high degree of case-complexity showed a less favourable outcome, i.e. more health care utilization and lower rates of return to work. In conclusion, the systematic implementation of the INTERMED enabled the reorganization of medical rehabilitation, anchored it in a bio-psycho-social framework, improving interdisciplinary communication and collaboration and ameliorated treatment outcome.

Completing contracts ex post: How car manufacturers manage car dealers

This article illustrates how contracts are completed ex post in practice and, in so doing, indirectly suggests what the real function of contracts may be. Our evidence comes from the contracts between automobile manufacturers and their dealers in 23 dealership networks in Spain. Franchising dominates automobile distribution because of the need to decentralize pricing and control of service decisions. It motivates local managers to undertake these activities at minimum cost for the manufacturer. However, it creates incentive conflicts, both between manufacturers and dealers and among dealers themselves, concerning the level of sales and service provided. It also holds potential for expropriation of specific investments. Contracts deal with these conflicts by restricting dealers decision rights and granting manufacturers extensive completion, monitoring and enforcement powers. The main mechanism that may prevent abuse of these powers is the manufacturers reputational capital.

Fecal Source Tracking in Iowa, 2004

Water fact sheet for Iowa Department of Natural Resources and the Geological Bureau.

Bacteria Source Tracking in Lake Darling Watershed, 2005

Monitoring of Iowa's surface waters during the past five years has demonstrated the regular occurrence of fecel bacteria in surface water resources.

First impressions matter: Signalling as a source of policy dynamics

We first establish that policymakers on the Bank of England's Monetary PolicyCommittee choose lower interest rates with experience. We then reject increasingconfidence in private information or learning about the structure of the macroeconomy as explanations for this shift. Instead, a model in which voters signal theirhawkishness to observers better fits the data. The motivation for signalling is consistent with wanting to control inflation expectations, but not career concerns orpleasing colleagues. There is also no evidence of capture by industry. The papersuggests that policy-motivated reputation building may be important for explainingdynamics in experts' policy choices.

Le syndrome post-thrombotique, préparation d'une étude clinique

Intro. Le syndrome post-thrombotique (SPT) est la complication chronique la plus fréquente après une thrombose veineuse profonde (TVP). Syndrome peu connu, malgré une prévalence de 20-50%, il se caractérise par des symptômes d'insuffisance veineuse chronique apparaissant après une TVP. L'utilisation de bas de compression graduée (BCG) diminue de moitié le risque de développer un SPT. Mais un problème de faible compliance est souvent un obstacle dans la prise en charge. Le but principal de cette étude sera de déterminer le lien entre l'adhérence au BCG et le développement de SPT Méthode. Il s'agit d'une étude cas-témoin, mono-centrique, avec inclusion prospective et consécutive des patients avec une TVP. Les patients recrutés recevront un traitement standard pour une TVP (anticoagulation thérapeutique pendant 3 mois et BCG pour une durée d'un an) et seront suivis sur une année avec 4 visites médicales (V0-V3) et 10 entretiens téléphoniques (I1-I10). A la fin de l'étude, sur la base de l'adhérence au port du BCG, les patients seront divisés en deux groupes: bonne adhérence au traitement (cas) et faible adhérence (témoin). Conclusion. Il est certain que ce sujet a besoin de recherches pour mieux comprendre le développement, trouver une prévention et des traitements efficaces et acceptables afin d'améliorer leur qualité de vie des patients.

Source inference of exogenous gamma-hydroxybutyric acid (GHB) administered to humans by means of carbon isotopic ratio analysis: novel perspectives regarding forensic investigation and intelligence issues.

γ-Hydroxybutyric acid (GHB) is an endogenous short-chain fatty acid popular as a recreational drug due to sedative and euphoric effects, but also often implicated in drug-facilitated sexual assaults owing to disinhibition and amnesic properties. Whilst discrimination between endogenous and exogenous GHB as required in intoxication cases may be achieved by the determination of the carbon isotope content, such information has not yet been exploited to answer source inference questions of forensic investigation and intelligence interests. However, potential isotopic fractionation effects occurring through the whole metabolism of GHB may be a major concern in this regard. Thus, urine specimens from six healthy male volunteers who ingested prescription GHB sodium salt, marketed as Xyrem(®), were analysed by means of gas chromatography/combustion/isotope ratio mass spectrometry to assess this particular topic. A very narrow range of δ(13)C values, spreading from -24.810/00 to -25.060/00, was observed, whilst mean δ(13)C value of Xyrem(®) corresponded to -24.990/00. Since urine samples and prescription drug could not be distinguished by means of statistical analysis, carbon isotopic effects and subsequent influence on δ(13)C values through GHB metabolism as a whole could be ruled out. Thus, a link between GHB as a raw matrix and found in a biological fluid may be established, bringing relevant information regarding source inference evaluation. Therefore, this study supports a diversified scope of exploitation for stable isotopes characterized in biological matrices from investigations on intoxication cases to drug intelligence programmes.