297 research outputs found

    Role of Neonatal Hearing Screening Programme in the Auditory Rehabilitation of Children

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    Objectivos: Determinar a influência da implementação do rastreio auditivo neonatal universal na referenciação de crianças com hipoacúsia a uma consulta de reabilitação auditiva. Métodos: Contexto – consulta de reabilitação auditiva num centro de referenciação terciário em Lisboa; Desenho do estudo – estudo de coorte retrospectivo baseado nos dados de processos clínicos de crianças com surdez. População – todos os processos de crianças nascidas a partir de 1998 (437 no total) foram analisados, resultando na selecção de 322 crianças que cumpriam os critérios de inclusão. Resultados: A idade média de referenciação à consulta tem vindo a diminuir de 55 meses (1998-2000) para 12 meses (2007-2009). Em 3/4 dos doentes o motivo de referenciação é hipoacúsia ou alterações nos programas de rastreio auditivo neonatal. Conclusão: O rastreio auditivo neonatal tem permitido iniciara reabilitação auditiva de crianças com hipoacúsia mais cedo. É importante manter este programa a funcionar para garantir a reabilitação precoce de crianças com perda auditiva.info:eu-repo/semantics/publishedVersio

    Retrospective Diagnosis of Congenital Cytomegalovirus Infection in a Cohort of Children with Neurosensorial Hearing Impairment

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    Objectivos: Determinar a prevalência da infecção congénita por Citomegalovírus (CMV) como causa de hipoacusia infantil. Métodos: Realizou-se um estudo de coorte retrospectivo através da revisão de dados nos processos clínicos. Seleccionaram-se as crianças com hipoacusia neuro-sensorial bilateral moderada ou mais grave e que não tinham diagnóstico estabelecido. Os cartões de Guthrie armazenados num laboratório de referência nacional foram analisados com uma técnica baseada em extracção de ácido desoxirribonucleico (ADN) induzida por calor, seguida de pesquisa de ADN do CMV através de amplificação por polymerase chain reactionResultados: Dos 83 cartões de Guthrie testados, 8 (9,6%) foram positivos. Na nossa coorte, 11 doentes têm infecção congénita por CMV confirmada, correspondendo a 8,1% dos casos com diagnóstico confirmado mas apenas 3,4% dos casos no global. Conclusão: A infecção congénita por CMV é uma causa significativa de hipoacusia infantil na nossa população. O diagnóstico retrospectivo é possível com recurso aos cartõesde Guthrie.info:eu-repo/semantics/publishedVersio

    International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe

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    In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which adjunctive AED can be advised if treatment with the initial drug is unsatisfactory, and 4) when treatment changes should be considered. In this consensus proposal, an overview is given on the aim of AED treatment, when to start long-term treatment in canine epilepsy and which veterinary AEDs are currently in use for dogs. The consensus proposal for drug treatment protocols, 1) is based on current published evidence-based literature, 2) considers the current legal framework of the cascade regulation for the prescription of veterinary drugs in Europe, and 3) reflects the authors’ experience. With this paper it is aimed to provide a consensus for the management of canine idiopathic epilepsy. Furthermore, for the management of structural epilepsy AEDs are inevitable in addition to treating the underlying cause, if possible

    Asteroseismology and Interferometry

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    Asteroseismology provides us with a unique opportunity to improve our understanding of stellar structure and evolution. Recent developments, including the first systematic studies of solar-like pulsators, have boosted the impact of this field of research within Astrophysics and have led to a significant increase in the size of the research community. In the present paper we start by reviewing the basic observational and theoretical properties of classical and solar-like pulsators and present results from some of the most recent and outstanding studies of these stars. We centre our review on those classes of pulsators for which interferometric studies are expected to provide a significant input. We discuss current limitations to asteroseismic studies, including difficulties in mode identification and in the accurate determination of global parameters of pulsating stars, and, after a brief review of those aspects of interferometry that are most relevant in this context, anticipate how interferometric observations may contribute to overcome these limitations. Moreover, we present results of recent pilot studies of pulsating stars involving both asteroseismic and interferometric constraints and look into the future, summarizing ongoing efforts concerning the development of future instruments and satellite missions which are expected to have an impact in this field of research.Comment: Version as published in The Astronomy and Astrophysics Review, Volume 14, Issue 3-4, pp. 217-36

    Lipopolysaccharide Diversity Evolving in Helicobacter pylori Communities through Genetic Modifications in Fucosyltransferases

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    Helicobacter pylori persistently colonizes the gastric mucosa of half the human population. It is one of the most genetically diverse bacterial organisms and subvariants are continuously emerging within an H. pylori population. In this study we characterized a number of single-colony isolates from H. pylori communities in various environmental settings, namely persistent human gastric infection, in vitro bacterial subcultures on agar medium, and experimental in vivo infection in mice. The lipopolysaccharide (LPS) O-antigen chain revealed considerable phenotypic diversity between individual cells in the studied bacterial communities, as demonstrated by size variable O-antigen chains and different levels of Lewis glycosylation. Absence of high-molecular-weight O-antigen chains was notable in a number of experimentally passaged isolates in vitro and in vivo. This phenotype was not evident in bacteria obtained from a human gastric biopsy, where all cells expressed high-molecular-weight O-antigen chains, which thus may be the preferred phenotype for H. pylori colonizing human gastric mucosa. Genotypic variability was monitored in the two genes encoding α1,3-fucosyltransferases, futA and futB, that are involved in Lewis antigen expression. Genetic modifications that could be attributable to recombination events within and between the two genes were commonly detected and created a diversity, which together with phase variation, contributed to divergent LPS expression. Our data suggest that the surrounding environment imposes a selective pressure on H. pylori to express certain LPS phenotypes. Thus, the milieu in a host will select for bacterial variants with particular characteristics that facilitate adaptation and survival in the gastric mucosa of that individual, and will shape the bacterial community structure

    Comparison of DNA extraction kits for PCR-DGGE analysis of human intestinal microbial communities from fecal specimens

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    <p>Abstract</p> <p>Background</p> <p>The influence of diet on intestinal microflora has been investigated mainly using conventional microbiological approaches. Although these studies have advanced knowledge on human intestinal microflora, it is imperative that new methods are applied to facilitate scientific progress. Culture-independent molecular fingerprinting method of Polymerase Chain Reaction and Denaturing Gradient Gel Electrophoresis (PCR-DGGE) has been used to study microbial communities in a variety of environmental samples. However, these protocols must be optimized prior to their application in order to enhance the quality and accuracy of downstream analyses. In this study, the relative efficacy of four commercial DNA extraction kits (Mobio Ultra Clean<sup>® </sup>Fecal DNA Isolation Kit, M; QIAamp<sup>® </sup>DNA Stool Mini Kit, Q; FastDNA<sup>® </sup>SPIN Kit, FSp; FastDNA<sup>® </sup>SPIN Kit for Soil, FSo) were evaluated. Further, PCR-DGGE technique was also assessed for its feasibility in detecting differences in human intestinal bacterial fingerprint profiles.</p> <p>Method</p> <p>Total DNA was extracted from varying weights of human fecal specimens using four different kits, followed by PCR amplification of bacterial 16S rRNA genes, and DGGE separation of the amplicons.</p> <p>Results</p> <p>Regardless of kit, maximum DNA yield was obtained using 10 to 50 mg (wet wt) of fecal specimens and similar DGGE profiles were obtained. However, kits FSp and FSo extracted significantly larger amounts of DNA per g dry fecal specimens and produced more bands on their DGGE profiles than kits M and Q due to their use of bead-containing lysing matrix and vigorous shaking step. DGGE of 16S rRNA gene PCR products was suitable for capturing the profiles of human intestinal microbial community and enabled rapid comparative assessment of inter- and intra-subject differences.</p> <p>Conclusion</p> <p>We conclude that extraction kits that incorporated bead-containing lysing matrix and vigorous shaking produced high quality DNA from human fecal specimens (10 to 50 mg, wet wt) that can be resolved as bacterial community fingerprints using PCR-DGGE technique. Subsequently, PCR-DGGE technique can be applied for studying variations in human intestinal microbial communities.</p
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