20 research outputs found

    A whole genome screen for association with multiple sclerosis in portuguese patients

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    Multiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n = 188) and matched controls (n = 188). Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association.SERONO (Portugal).Fundação para a Ciência e a Tecnologia (FCT) - grant FRH/BD/9111/2002.British Council/ICCTI.Wellcome Trust, Multiple Sclerosis Societies of the United States and Great Britain, Multiple Sclerosis International Federation - GAMES project - grant 057097

    Effects of Trihalomethanes on Liver Mitochondria

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    Introduction: Trihalomethanes (THMs), namely dibromochloromethane (DBCM) and bromodichloromethane (BDCM), are disinfection byproducts of chlorinated water. This experiment aimed to evaluate the mitochondrial dysfunction induced by THMs at low levels in a mouse model

    Guillain-Barré syndrome: the reality of an Hospital Center

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    Introdução – O Síndrome Guillain-Barré (SGB) é uma polineuropatia desmielinizante aguda de natureza auto-imune. Objectivo – Caracterizar a população pediátrica de doentes internados no Centro Hospitalar de Vila Nova de Gaia com o diagnóstico de SGB, quanto à forma de apresentação, tratamento e evolução clínica. Doentes e Métodos – Foram analisados os processos clínicos dos doentes com idade inferior a 16 anos com o diagnóstico de SGB, entre 1 Janeiro de 2000 e 31 Dezembro de 2006. Aplicou-se na avaliação do estado funcional a Escala de Van Der Merché e Van Doorn. Resultados – Foram estudados sete casos, quatro do sexo masculino, com idades entre os 2 e 10 anos. Em 71% dos doentes a infecção respiratória ou gastrointestinal precedeu o quadro. Todos apresentaram alterações motoras, cinco alterações sensitivas e três envolvimento dos pares cranianos. Em três a forma de apresentação foi atípica. Cinco crianças tinham dissociação albumino-citológica (DAC) e encontraram-se sinais electromiográficos de polineuropatia desmielinizante aguda em 3. O agente mais frequentemente implicado foi o Campylobacter jejuni. Todas foram tratadas com imunoglobulina endovenosa (IgEV), com boa evolução clínica, recuperando sem sequelas. À altura da alta a maioria apresentava incapacidade funcional moderada. Discussão – A forma de apresentação nem sempre é a típica, podendo manifestar-se por dores musculares, simulando uma miosite, por forma “encefaliticas” ou por afecção dos pares cranianos. A punção lombar e a electromiografia (EMG) são bons exames auxiliares de diagnóstico. Contudo, quando a punção é realizada muito precocemente poderão não se encontrar as alterações esperadas; da mesma forma, a EMG deverá ser realizada depois das três semanas para ser informativa. ABSTRACT Introduction - Guillain-Barré Syndrome (GBS) is an acute autoimmune demyelinating polyneuropatia. The aim of this work was to characterize the pediatric patients admitted to Centro Hospitalar Vila Nova de Gaia with GBS, analyzing the clinical presentation, treatment and the clinical evolution. Patients and Methods - Retrospective review of all children less than 16 years with GBS admitted in Centro Hospitalar de Vila Nova de Gaia between 1st January 2000 and 31st December 2006. The functional state was evaluated by the Van Der Merché and Van Doorn scale. Results - Seven cases were admitted during this period, 4 were males, aged 2 to 10 years. Respiratory and gastrointestinal prodromes were identified in 71% of the cases. All patients had motor disturbances, 5 sensory manifestations and 3 cranial nerves involvement. Five children had albuminocytological dissociation and electromyographic signs of acute demyelinating neuropathy was identifi ed in 3. Campylobacter jejuni was the agent more commonly involved. All children were treated with intravenous imunoglobulins, with good evolution, recovering without sequels. On the time of discharge most of the children presented a moderate functional incapacity. Discussion - The clinical presentation in GBS can be variable: classic, miosites-like or encephalitis-like or with craneal nerve envolvent. Lumbar puncture (LP) and electromyogram are important to support the diagnosis. Nevertheless when LP is performed early in the course of the disease typical abnormalities may not be present. Also electrophysiological studies should be made after the third week of disease to be of greater diagnostic value

    Youth clinics in a health care center – nine years experience

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    RESUMO Introdução e objectivos: Os Centros de Atendimento a Jovens (CAJ) foram criados com o objectivo de suprir uma lacuna na relação, em termos de saúde, com os jovens portugueses. O objectivo deste estudo foi analisar as características dos utentes do CAJ e o tipo de utilização dos serviços de saúde. Material e métodos: Foi realizado um estudo retrospectivo descritivo dos registos do CAJ num Centro de Saúde do Norte de Portugal nos anos de 2000 a 2008, avaliando variáveis epidemiológicas e de utilização do centro. Resultados: Entre 2000-2008 realizaram-se 2024 primeiras e 10889 segundas consultas; as consultas a jovens do sexo feminino quintuplicaram de 2000 para 2004, tendo-se mantido estáveis para o sexo feminino de 2005 a 2008 e para o sexo masculino de 2000 a 2008. Os principais motivos de recurso ao CAJ foram o início e manutenção da contracepção (47 a 63%), informação geral e sobre sexualidade (19 a 48%). A contracepção de emergência, disponível desde 2002, foi dispensada nesta consulta a 168 utentes até ao ano de 2008. Nos anos analisados, verificou-se que 68% das utentes que recorreram à contracepção de emergência tinham acompanhamento habitual pelo seu médico de família ou no CAJ; a sua necessidade deveu-se, em cerca de 51% dos casos, a relação sexual não protegida e nos restantes 49% a falência do método contraceptivo. Conclusão: A utilização do CAJ tem aumentado ao longo dos anos. A vertente de planeamento familiar foi a mais procurada. O início da vida sexual já tinha ocorrido na maioria dos casos antes do recurso à consulta, e de uma forma desprotegida numa proporção preocupante. O escasso número de rapazes foi sugestivo de uma atitude de desresponsabilização masculina relativamente à contracepção. ABSTRACT Introduction and aim: The youth clinics (YC) were created to promote an age oriented health care services. The objective of this study was to characterize the population attending an YC and the type of utilization of the health care services. Methods: Retrospective descriptive study of a Health Care Center YC in Northern Portugal, between the years 2000 and 2008, with analysis of epidemiologic and utilization characteristics of its population. Results: Between 2000 and 2008 we had 2024 first and 10889 subsequent appointments; consultations for females increased five times between 2000-2004, becoming stable thereafter; the number of consultations for males was similar each year. The main reasons to attend an YC were the start and maintenance of contraception (47-63%) and to get general health and sexuality-related information (19-48%). Emergency contraception, available since 2002, was given to 168 women until 2008; 68% of them had regular medical follow-up at her family doctor or at YC; this method was searched because of previous unprotected sexual intercourse (51%) or failure of the contraceptive method used during the intercourse (49%). Conclusions: YC utilization has been growing up steadily. Contraception search was the main appointment reason. Sex life had already started before the first appointment in most cases, and with no kind of protection in considerable number of users. The small number of males attending YC might be regarded as a non-responsible attitude towards contraception

    Dermatology case: scabies

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    The authors describe a clinical case of a 5-months-old boy with widespread rash since the first month of life. Diffuse papular rash with intensive itching. The shaved skin was inconclusive so we performed biopsy to confirm the diagnosis of scabies. It’s a dermatosis very contagious caused by the mite Sarcoptes scabiei var. hominis. In infants skin eruption may have a polymorphic presentation with characteristic distribution

    The coal cleat system: A new approach to its study

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    AbstractAfter a general analysis regarding the concept of coal “cleat system”, its genetic origin and practical applications to coalbed methane (CBM) commercial production and to CO2 geological sequestration projects, the authors have developed a method to answer, quickly and accurately in accordance with the industrial practice and needs, the following yet unanswered questions: (1) how to define the spatial orientation of the different classes of cleats presented in a coal seam and (2) how to determine the frequency of their connectivites. The new available and presented techniques to answer these questions have a strong computer based tool (geographic information system, GIS), able to build a complete georeferentiated database, which will allow to three-dimensionally locate the laboratory samples in the coalfield. It will also allow to better understand the coal cleat system and consequently to recognize the best pathways to gas flow through the coal seam. Such knowledge is considered crucial for understanding what is likely to be the most efficient opening of cleat network, then allowing the injection with the right spatial orientation, of pressurized fluids in order to directly drain the maximum amount of gas flow to a CBM exploitation well. The method is also applicable to the CO2 geological sequestration technologies and operations corresponding to the injection of CO2 sequestered from industrial plants in coal seams of abandoned coal mines or deep coal seams

    Modification of wheat straw lignin by solid state fermentation with white-rot fungi

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    The potential of crude enzyme extracts, obtained from solid state cultivation of four white-rot fungi (Trametes versicolor, Bjerkandera adusta, Ganoderma applanatum and Phlebia rufa), was exploited to modify wheat straw cell wall. At different fermentation times, manganese-dependent peroxidase (MnP), lignin peroxidase (LiP), laccase, carboxymethylcellulase (CMCase), avicelase, xylanase and feruloyl esterase activities were screened and the content of lignin as well as hydroxycinnamic acids in fermented straw were determined. All fungi secreted feruloyl esterase while LiP was only detected in crude extracts from B. adusta. Since no significant differences (P > 0.05) were observed in remaining lignin content of fermented straw, LiP activity was not a limiting factor of enzymatic lignin removal process. The levels of esterified hydroxycinnamic acids degradation were considerably higher than previous reports with lignocellulosic biomass. The data show that P. rufa, may be considered for more specific studies as higher ferulic and p-coumaric acids degradation was observed for earlier incubation time

    Deposição atmosférica de poeiras e níveis de elementos traço numa cidade industrial no litoral centro de Portugal

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    International audienceO presente estudo pretendeu (i) identificar padrões geoquímicos espaciais e temporais na deposição atmosférica, e (ii) avaliar potenciais contribuições de fontes locais e alóctones para a composição química das poeiras atmosféricas no concelho de Estarreja. Dois coletores foram colocados em áreas exteriores de duas escolas localizadas poucos quilómetros a sul da zona industrial. A recolha das amostras foi realizada mensalmente, de maio a agosto de 2018. As frações solúvel e insolúvel da deposição atmosférica foram analisadas por ICP-MS para determinar as concentrações quase-totais dos elementos químicos. Os resultados mostram a ocorrência de dois eventos distintos de maior fluxo de deposição atmosférica: (i) um em maio, caracterizado pela deposição de elementos traço em formas solúveis, detetado em ambas as escolas e (ii) um segundo em agosto, caracterizado pela deposição de elementos maiores em formas insolúveis, detetado apenas na escola mais distante do complexo industrial. No geral, os resultados indicam uma deposição antrópica de aerossóis em maio e uma deposição de partículas litogénicas em agosto
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