77 research outputs found

    SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias

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    With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The underlying synthetic cohort is based on clinical data from five different European and US longitudinal multicenter cohorts in spinocerebellar ataxia type 1, 2, 3, and 6 (SCA1, 2, 3, and 6) comprising > 1400 patients with overall > 5500 visits. First, we developed a common data model to integrate the clinical, demographic, and characterizing data of each source cohort. Second, the available datasets from each cohort were mapped onto the data model. Third, we created a synthetic cohort based on the cleaned dataset. With SCAview, we demonstrate the feasibility of mapping cohort data from different sources onto a common data model. The resulting browser-based visualization tool with a thoroughly graphical handling of the data offers researchers the unique possibility to visualize relationships and distributions of clinical data, to define subgroups and to further investigate them without any technical effort. Access to SCAview can be requested via the Ataxia Global Initiative and is free of charge

    Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis.

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    Streptococcus pneumoniae is a common nasopharyngeal colonizer, but can also cause life-threatening invasive diseases such as empyema, bacteremia and meningitis. Genetic variation of host and pathogen is known to play a role in invasive pneumococcal disease, though to what extent is unknown. In a genome-wide association study of human and pathogen we show that human variation explains almost half of variation in susceptibility to pneumococcal meningitis and one-third of variation in severity, identifying variants in CCDC33 associated with susceptibility. Pneumococcal genetic variation explains a large amount of invasive potential (70%), but has no effect on severity. Serotype alone is insufficient to explain invasiveness, suggesting other pneumococcal factors are involved in progression to invasive disease. We identify pneumococcal genes involved in invasiveness including pspC and zmpD, and perform a human-bacteria interaction analysis. These genes are potential candidates for the development of more broadly-acting pneumococcal vaccines

    Impacto do Programa Fica Vivo na redução dos homicídios em comunidade de Belo Horizonte Impacto del Programa Permanezca Vivo en la reducción de los homicidios en comunidad de Belo Horizonte, Sureste de Brasil Impact of the Staying Alive Program on the reduction of homicides in a community in Belo Horizonte

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    OBJETIVO: Avaliar o impacto de programa de prevenção de homicídios. MÉTODOS: Com base nos dados do Programa Fica Vivo, de prevenção de homicídios, foi realizado um estudo quase experimental com análise de séries temporais da ocorrência de homicídios no aglomerado Morro das Pedras, em Belo Horizonte, MG, de 2002 a 2006. Comparou-se o número de homicídios ocorridos nessa localidade com os de outras favelas violentas e não violentas e outros bairros da cidade, em cada uma das fases do Programa. Para testar a hipótese de que a redução dos homicídios resultou das ações implementadas pelo Programa, foi elaborado um modelo estatístico baseado em modelos lineares generalizados. RESULTADOS: Nos primeiros seis meses obteve-se 69% de redução no número médio de homicídios. Nos períodos de refluxo e retomada parcial do Programa, o efeito de redução dos homicídios diminuiu, mas a diferença entre coeficientes com aquele do período inicial não foi estatisticamente significante. Mesmo com a retomada integral do Programa, o efeito continuou similar aos dos períodos anteriores, provavelmente porque o Programa foi implantado em outras favelas violentas da cidade. CONCLUSÕES: Os resultados apontam que o modelo do Programa Fica Vivo pode constituir uma importante alternativa para prevenção de homicídios contra jovens em comunidades que apresentem características semelhantes às da experiência piloto no Morro das Pedras.<br>OBJETIVO: Evaluar el impacto del programa de prevención de homicidios. MÉTODOS: Con base en los datos del Programa "Fica Vivo" (Permanezca Vivo), de prevención de homicidios, fue realizado un estudio quasi experimental con análisis de series temporales de la ocurrencia de homicidios en el región urbanizada Morro das Pedras en Belo Horizonte, Sureste de Brasil, de 2002 a 2006. Se comparó el número de homicidios ocurridos en esa localidad con los de otros barrios violentos y no violentos y otras urbanizaciones de la ciudad, en cada una de las fases del Programa. Para evaluar la hipótesis de que la reducción de los homicidios resultó de las acciones implementadas por el Programa, fue elaborado un modelo estadístico basado en modelos lineales generalizados. RESULTADOS: En los primeros seis meses se obtuvo 69% de reducción en el número promedio de homicidios. En los períodos de retroceso y retomada parcial del Programa, el efecto de reducción de los homicidios disminuyó, pero la diferencia entre coeficientes con el obtenido en el período inicial no fue estadísticamente significativo. Aún con la retomada integral del Programa, el efecto continuó similar a los dos períodos anteriores, probablemente porque el programa fue implantado en otros barrios violentos de la ciudad. CONCLUSIONES: Los resultados señalan que el modelo del Programa Fica Vivo puede constituir una importante alternativa para prevención de homicidios contra jóvenes en comunidades que presenten características semejantes a las de la experiencia piloto en el Morro das Pedras.<br>OBJECTIVE: To evaluate the impact of a homicide prevention program. METHODS: A quasi-experimental study was performed using time series analysis of homicide incidence in the Morro das Pedras area in the city of Belo Horizonte, Southeastern Brazil, from 2002 to 2006. The number of homicides occurring in this location was compared to other violent and non-violent favelas and to other neighborhoods of the city, during each of the Program phases. To test the hypothesis that homicide reduction was caused by the actions implemented by the program, a statistical model was developed based on generalized linear models. RESULTS: In the first six months a 69% reduction in the number of homicides was obtained. During the other Program periods, the effect on the reduction of homicides lessened, but the difference among coefficients compared to the initial period was not statistically significant. Even with full Program implementation, the effect continued to be similar to the previous periods, probably because the program was implemented in other violent favelas in the city. CONCLUSIONS: The results suggest that the Staying Alive Program model can be an important alternative for the prevention of youth homicides in communities that have characteristics similar to the pilot program in Morro das Pedras
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