6 research outputs found

    Tractament de manteniment amb metadona: manual de pràctica clínica

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    Tractament de manteniment amb metadona; Pràctica clínica; DrogodependènciesTratamiento de mantenimiento con metadona; Práctica clínica; DrogodependenciasMethadone maintenance treatment; Clinical practice; Drug addictionsEl Manual pretén ser una eina útil per disminuir la variabilitat de la pràctica clínica i garantir un nivell òptim de qualitat i millora de l'atenció sanitària en el tractament de manteniment amb metadona (TMM). Aplica les normes bàsiques utilitzades per a la preparació de guies de pràctica clínica; en primer lloc, incloent-hi la millor evidència possible sobre la base de revisions sistemàtiques de la literatura, en segon lloc, amb recomanacions clares i curtes, i en tercer lloc, en absència d’una evidència fiable en la literatura, incorporant-hi la opinió d’experts per mitjà de tècniques de consens com el mètode Delphi

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

    El significado del estudio y de la escuela a lo largo de la escuela media The meaning of study and school throughout the secondary school

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    Este trabajo se focaliza en el estudio de las significaciones del estudio y de la escuela, en jóvenes que se encuentran cursando el nivel medio, considerando tres momentos de la trayectoria escolar: primero, tercero y quinto año. La metodología de la investigación es cuantitativa. Se tomaron 1546 cuestionarios autoadministrables a alumnos de escuelas medias públicas de la C.A.B.A., de los cuales 707 eran mujeres y 839 varones. El promedio de edad en primer año fue de 14 años; en tercer año de 16 años y en quinto año de 18 años. Las pruebas utilizadas fueron Significación del Estudio y Significación de la Escuela. Utilizando el test no paramétrico y la prueba de comparaciones múltiples de Kruskal Wallis, se encontró que la significación del estudio y de la escuela de la población de primer año es distinta a la de tercero y quinto.<br>This paper focuses in the study of the meanings of study and school in young people who are attending middle level, considering three moments of the scholastic trajectory: first, third and fifth year. The investigation's methodology is quantitative.1546 self-managing questionnaires were taken to students attending public secondary schools of the C.A.B.A, of which 707 were women and 839 were men. The average age in first year was of 14 years; in third year of 16 years and fifth year of 18 years. Using the non-parametric test and the test of multiple comparisons of Kruskal Wallis, we conclude that the meaning of study and school of the population attending the first year is different from the one of third and fifth year

    La construcción de proyectos de trabajo en jóvenes escolarizados The construction of work projects in youth students

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    Este trabajo analiza algunas dimensiones del proyecto de trabajo de jóvenes escolarizados: expectativas y aspiraciones, caracteristicas personales de iniciativa, estrategias de búsqueda de trabajo, valores laborales, definiciones del trabajo y percepción de recursos y obstáculos para la inserción laboral. La metodología es cuantitativa. Se tomaron 1546 cuestionarios autoadministrables a alumnos de escuelas medias públicas de la Ciudad Autónoma de Buenos Aires: 707 mujeres y 839 varones. El promedio de edad en primer año fue de 14 años; en tercer año de 16 años y en quinto año de 18 años. Se han realizado análisis descriptivos, análisis de varianzas (ANOVA) y utilizado pruebas no paramétricas. En este trabajo se han delimitado importantes dimensiones que inluyen en la construcción de los proyectos laborales y se han encontrado variables potentes para explicar las diferencias al interior de la población estudiada: sexo, especialidad, experiencia laboral, año de la trayectoria escolar y repetición.<br>This paper analyzes some dimensions of work projects of youth students: expectations and aspirations, personal characteristics of initiative, work search strategies, work values, deinitions of work and perception of resources and obstacles for labor insertion. The methodology is quantitative. 1546 self-managing questionnaires to students from public secondary schools of the C.A.B.A. were taken: 707 women and 839 men. The age's average in the irst year was of 14 years old; in the third year of 16 years old and in the ifth year of 18 years old. Descriptive analyses and analyses of variances have been made (ANOVA) and non-parametric tests were applied. In this work important dimensions that inluence in the construction of work projects have been delimited and there have been found powerful variables to explain the differences within the studied population: sex, specialty, work experience, year of the scholastic trajectory and repetition

    Global mortality and readmission rates following COPD exacerbation-related hospitalization:a meta-analysis of 65945 individual patients

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    Background Exacerbations of COPD (ECOPD) have a major impact on patients and healthcare systems across the world. Precise estimates of the global burden of ECOPD on mortality and hospital readmission are needed to inform policy makers and aid preventive strategies to mitigate this burden. The aims of the present study were to explore global in-hospital mortality, post-discharge mortality and hospital readmission rates after ECOPD-related hospitalisation using an individual patient data meta-analysis (IPDMA) design. Methods A systematic review was performed identifying studies that reported in-hospital mortality, post-discharge mortality and hospital readmission rates following ECOPD-related hospitalisation. Data analyses were conducted using a one-stage random-effects meta-analysis model. This study was conducted and reported in accordance with the PRISMA-IPD statement. Results Data of 65 945 individual patients with COPD were analysed. The pooled in-hospital mortality rate was 6.2%, pooled 30-, 90- and 365-day post-discharge mortality rates were 1.8%, 5.5% and 10.9%, respectively, and pooled 30-, 90- and 365-day hospital readmission rates were 7.1%, 12.6% and 32.1%, respectively, with noticeable variability between studies and countries. Strongest predictors of mortality and hospital readmission included noninvasive mechanical ventilation and a history of two or more ECOPD-related hospitalisations <12 months prior to the index event. Conclusions This IPDMA stresses the poor outcomes and high heterogeneity of ECOPD-related hospitalisation across the world. Whilst global standardisation of the management and follow-up of ECOPD-related hospitalisation should be at the heart of future implementation research, policy makers should focus on reimbursing evidence-based therapies that decrease (recurrent) ECOPD
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