53 research outputs found

    Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes

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    There is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The study of the common genetic variation in ASD has suggested a greater contribution of other psychiatric conditions in Asperger syndrome (AS) than in the rest of the DSM-IV ASD subtypes (Non_AS). Here, using available genetic data from previously performed genome-wide association studies (GWAS), we aimed to study the genetic overlap between five of the most related disorders (schizophrenia (SCZ), major depression disorder (MDD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorders (OCD) and anxiety (ANX)), and AS, comparing it with the overlap in Non_AS subtypes. A Spanish cohort of autism trios (N = 371) was exome sequenced as part of the Autism Sequencing Consortium (ASC) and 241 trios were extensively characterized to be diagnosed with AS following DSM-IV and Gillberg's criteria (N = 39) or not (N = 202). Following exome imputation, polygenic risk scores (PRS) were calculated for ASD, SCZ, ADHD, MDD, ANX, and OCD (from available summary data from Psychiatric Genomic Consortium (PGC) repository) in the Spanish trios' cohort. By using polygenic transmission disequilibrium test (pTDT), we reported that risk for SCZ (Pscz = 0.008, corrected-PSCZ = 0.0409), ADHD (PADHD = 0.021, corrected-PADHD = 0.0301), and MDD (PMDD = 0.039, corrected-PMDD = 0.0501) is over-transmitted to children with AS but not to Non_AS. Indeed, agnostic clustering procedure with deviation values from pTDT tests suggested two differentiated clusters of subjects, one of which is significantly enriched in AS (P = 0.025). Subsequent analysis with S-Predixcan, a recently developed software to predict gene expression from genotype data, revealed a clear pattern of correlation between cortical gene expression in ADHD and AS (P < 0.001) and a similar strong correlation pattern between MDD and AS, but also extendable to another non-brain tissue such as lung (P < 0.001). Altogether, these results support the idea of AS being qualitatively distinct from Non_AS autism and consistently evidence the genetic overlap between AS and ADHD, MDD, or SCZ

    A prospective study of the clinical outcomes and prognosis associated with comorbid COPD in the atrial fibrillation population

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    Background: Patients with COPD are at higher risk of presenting with atrial fibrillation (AF). Information about clinical outcomes and optimal medical treatment of AF in the setting of COPD remains missing. We aimed to describe the prevalence of COPD in a sizeable cohort of real-world AF patients belonging to the same healthcare area and to examine the relationship between comorbid COPD and AF prognosis. Methods: Prospective analysis performed in a specific healthcare area. Data were obtained from several sources within the "data warehouse of the Galician Healthcare Service" using multiple analytical tools. Statistical analyses were completed using SPSS 19 and STATA 14.0. Results: A total of 7,990 (2.08%) patients with AF were registered throughout 2013 in our healthcare area (n=348,985). Mean age was 76.83+/-10.51 years and 937 (11.7%) presented with COPD. COPD patients had a higher mean CHA2DS2-VASc (4.21 vs 3.46; P=0.02) and received less beta-blocker and more digoxin therapy than those without COPD. During a mean follow-up of 707+/-103 days, 1,361 patients (17%) died. All-cause mortality was close to two fold higher in the COPD group (28.3% vs 15.5%; P<0.001). Independent predictive factors for all-cause mortality were age, heart failure, diabetes, previous thromboembolic event, dementia, COPD, and oral anticoagulation (OA). There were nonsignificant differences in thromboembolic events (1.7% vs 1.5%; P=0.7), but the rate of hemorrhagic events was significantly higher in the COPD group (3.3% vs 1.9%; P=0.004). Age, valvular AF, OA, and COPD were independent predictive factors for hemorrhagic events. In COPD patients, age, heart failure, vasculopathy, lack of OA, and lack of beta-blocker use were independent predictive factors for all-cause mortality. Conclusion: AF patients with COPD have a higher incidence of adverse events with significantly increased rates of all-cause mortality and hemorrhagic events than AF patients without COPD. However, comorbid COPD was not associated with differences in cardiovascular death or stroke rate. OA and beta-blocker treatment presented a risk reduction in mortality while digoxin use exerted a neutral effect

    Association between convalescent plasma treatment and mortality in COVID-19: a collaborative systematic review and meta-analysis of randomized clinical trials.

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    Funder: laura and john arnold foundationBACKGROUND: Convalescent plasma has been widely used to treat COVID-19 and is under investigation in numerous randomized clinical trials, but results are publicly available only for a small number of trials. The objective of this study was to assess the benefits of convalescent plasma treatment compared to placebo or no treatment and all-cause mortality in patients with COVID-19, using data from all available randomized clinical trials, including unpublished and ongoing trials (Open Science Framework, https://doi.org/10.17605/OSF.IO/GEHFX ). METHODS: In this collaborative systematic review and meta-analysis, clinical trial registries (ClinicalTrials.gov, WHO International Clinical Trials Registry Platform), the Cochrane COVID-19 register, the LOVE database, and PubMed were searched until April 8, 2021. Investigators of trials registered by March 1, 2021, without published results were contacted via email. Eligible were ongoing, discontinued and completed randomized clinical trials that compared convalescent plasma with placebo or no treatment in COVID-19 patients, regardless of setting or treatment schedule. Aggregated mortality data were extracted from publications or provided by investigators of unpublished trials and combined using the Hartung-Knapp-Sidik-Jonkman random effects model. We investigated the contribution of unpublished trials to the overall evidence. RESULTS: A total of 16,477 patients were included in 33 trials (20 unpublished with 3190 patients, 13 published with 13,287 patients). 32 trials enrolled only hospitalized patients (including 3 with only intensive care unit patients). Risk of bias was low for 29/33 trials. Of 8495 patients who received convalescent plasma, 1997 died (23%), and of 7982 control patients, 1952 died (24%). The combined risk ratio for all-cause mortality was 0.97 (95% confidence interval: 0.92; 1.02) with between-study heterogeneity not beyond chance (I2 = 0%). The RECOVERY trial had 69.8% and the unpublished evidence 25.3% of the weight in the meta-analysis. CONCLUSIONS: Convalescent plasma treatment of patients with COVID-19 did not reduce all-cause mortality. These results provide strong evidence that convalescent plasma treatment for patients with COVID-19 should not be used outside of randomized trials. Evidence synthesis from collaborations among trial investigators can inform both evidence generation and evidence application in patient care

    Fortalecimiento de la comprensi?n para mejorar el proceso de lectura, en los estudiantes del grado tercero del C.E.R Yerbabuenal, sede Santa Ana del municipio de Entrerr?os ? Antioquia

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    La investigaci?n se denomina ?Fortalecimiento de la Comprensi?n para mejorar el proceso de Lectura, en los estudiantes del grado tercero del C.E.R Yerbabuenal, sede Santa Ana del municipio de Entrerr?os ? Antioquia, a trav?s de estrategias pedag?gicas mediadas por una serie de secuencias did?cticas relacionadas con la competencia comunicativa lectora en el a?o 2022. El proyecto est? orientado bajo la pregunta ?De qu? manera la secuencia did?ctica fortalece el proceso de lectura en los estudiantes del grado tercero del Centro Educativo Rural Yerbabuenal, sede Santa Ana del municipio de Entrerr?os ? Antioquia? Y su objetivo general: Dise?ar una secuencia did?ctica que fortalezca el proceso de lectura en los estudiantes del grado tercero del Centro Educativo Rural Yerbabuenal, sede Santa Ana del municipio de Entrerr?os ? Antioquia. El marco te?rico se fundament? con autores cuyos aportes est?n relacionados con la lectura, comprensi?n lectora, el aprendizaje significativo, did?ctica y niveles de comprensi?n lectora, entre otros. Es una investigaci?n cualitativa de tipo descriptivo, porque se fundamenta en la observaci?n detallada, participaci?n, interpretaci?n, comprensi?n y an?lisis de las acciones de los estudiantes del grado tercero en cuanto al proceso de la lectura en el aula de clase, las t?cnicas para la recolecci?n de informaci?n fueron el an?lisis documental, la observaci?n directa y el diario de campo. Es de adelantar que la propuesta, ?La lectura, una Aventura Comprensiva? tuvo un buen impacto en los estudiantes y se logr? una participaci?n activa gracias a las actividades dise?adas para fortalecer la comprensi?n lectora que fue lo planteado desde el inicio.The research is called "Strengthening Comprehension to improve the Reading process, in third grade students of the C.E.R Yerbabuenal, Saint Ana campus of the municipality of Entrerr?os - Antioquia, through pedagogical strategies mediated by a series of didactic sequences related to the reading communicative competence in the year 2022. The project is oriented under the question: How does the didactic sequence strengthen the reading process in the third grade students of the Yerbabuenal Rural Educational Center, Saint Ana headquarters in the municipality of Entrerr?os - Antioquia? And its general objective: Design a didactic sequence that strengthens the reading process in third grade students of the Yerbabuenal Rural Educational Center, Saint Ana headquarters in the municipality of Entrerr?os - Antioquia. The theoretical framework was based on authors whose contributions are related to reading, reading comprehension, meaningful learning, didactics and levels of reading comprehension, among others. It is a qualitative research of a descriptive type, because it is based on detailed observation, participation, interpretation, understanding and analysis of the actions of third grade students regarding the process of reading in the classroom, the techniques for collecting of information were documentary analysis, direct observation and field diary. It is anticipated that the proposal, "Reading, a Comprehensive Adventure" had a good impact on students and active participation was achieved thanks to the activities designed to strengthen reading comprehension that was proposed from the beginning.Maestr?aMag?ster en Ciencias de la Educaci?

    El anillo de multiplicadores

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    49 p. Recurso Electr?nicoEl Anillo de Multiplicadores En este trabajo presentamos el anillo de multiplicadores M(I), el cual permite adjuntar una unidad a cualquier anillo no unitario. Adem as mostramos su relaci on con el anillo base y determinamos bajo qu e condiciones son isomorfos estos anillos. Introducimos el problema de la asociatividad dado en la teor a de Skew anillos de grupos parciales y usamos el anillo de multiplicadores para de nir una condici on su ciente con la cual se resuelve este problema.The Multiplier Rings In this work we present the multiplier ring M(I), which allows to add an identity element to any non unital ring. Moreover, we show its relationship with the base ring and the conditions under which those rings are isomorphic. On the other hand, we use the multiplier ring to solve partially the problem of associativity that appears in the theory of partial skew group rings. Key Words: Multiplier ring, Partial skew group ring, Partial action

    La gastronom?a colombiana: estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio el Carrusel de la Ense?anza

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    97 p.El presente proyecto de investigaci?n ?La Gastronom?a Colombiana: estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio El Carrusel de la Ense?anza?, es un trabajo de corte cualitativo, m?todo etnogr?fico, instalado en la Investigaci?n Formativa, que pretendi? contribuir a resolver la problem?tica relacionada con las estrategias pedag?gicas que fomentaban en el aula de grado segundo, el trabajo individual de los ni?os y ni?as al momento de abordar las actividades en el aula, identificado a partir de las observaciones y diagn?stico ejecutados durante la primera fase de la investigaci?n. Adicionalmente, con esta propuesta se busc? implementar una estrategia enfocada en la gastronom?a colombiana que fortaleciera el trabajo colaborativo de los ni?os y ni?as de grado segundo. Durante la segunda fase del proceso investigativo, se adelant? el dise?o e implementaci?n del Proyecto Pedag?gico de Aula (PPA) ?Saborea a Colombia, Convive con ella?, a trav?s del cual se ejecutaron actividades integradoras basadas en la gastronom?a colombiana con recetas infantiles tomadas de las diferentes regiones de Colombia, con las que se pretendi? privilegiar el trabajo colaborativo de los ni?os y ni?as para enfrentar las actividades escolares y maneras distintas de relacionarse con los otros. Para el desarrollo de esta investigaci?n, se acudi?, entre otras cosas, al rastreo de informaci?n relacionada con gastronom?a colombiana y estrategias pedag?gicas relacionadas con el trabajo colaborativo, que sirvieron de base para implementar y consolidar una propuesta que intent? contribuir a la vivencia de formas distintas de relaci?n interpersonal en el aula de grado segundo de b?sica primaria.The present research project ?La Gastronom?a Colombiana: estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio El Carrusel de la Ense?anza?, is a qualitative work, ethnographic method, installed in the Training Research , which sought to contribute to solve the problems related to the pedagogical strategies that encouraged in the second grade classroom, the individual work of children when addressing activities in the classroom, identified from the observations and diagnosis made during the first phase of the investigation. Additionally, this proposal sought to implement a strategy focused on Colombian gastronomy that would strengthen the collaborative work of second grade boys and girls. During the second phase of the research process, the design and implementation of the Pedagogical Classroom Project (PPA) "Saborea a Colombia, Convive con ella" was advanced, through which integrated activities based on Colombian gastronomy were executed with children's recipes taken from the different regions of Colombia, with which it was intended to privilege the collaborative work of children to face school activities and different ways of relating to others. For the development of this research, we went, among other things, to the tracking of information related to Colombian gastronomy and pedagogical strategies related to collaborative work, which served as the basis to implement and consolidate a proposal that tried to contribute to the experience in different ways of interpersonal relationship in the second grade classroom of primary school

    La gastronom?a colombiana: Estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio El Carrusel de la Ense?anza

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    97 p. Recurso Electr?nicoEl presente proyecto de investigaci?n ?La Gastronom?a Colombiana: estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio El Carrusel de la Ense?anza?, es un trabajo de corte cualitativo, m?todo etnogr?fico, instalado en la Investigaci?n Formativa, que pretendi? contribuir a resolver la problem?tica relacionada con las estrategias pedag?gicas que fomentaban en el aula de grado segundo, el trabajo individual de los ni?os y ni?as al momento de abordar las actividades en el aula, identificado a partir de las observaciones y diagn?stico ejecutados durante la primera fase de la investigaci?n. Adicionalmente, con esta propuesta se busc? implementar una estrategia enfocada en la gastronom?a colombiana que fortaleciera el trabajo colaborativo de los ni?os y ni?as de grado segundo. Durante la segunda fase del proceso investigativo, se adelant? el dise?o e implementaci?n del Proyecto Pedag?gico de Aula (PPA) ?Saborea a Colombia, Convive con ella?, a trav?s del cual se ejecutaron actividades integradoras basadas en la gastronom?a colombiana con recetas infantiles tomadas de las diferentes regiones de Colombia, con las que se pretendi? privilegiar el trabajo colaborativo de los ni?os y ni?as para enfrentar las actividades escolares y maneras distintas de relacionarse con los otros. Para el desarrollo de esta investigaci?n, se acudi?, entre otras cosas, al rastreo de informaci?n relacionada con gastronom?a colombiana y estrategias pedag?gicas relacionadas con el trabajo colaborativo, que sirvieron de base para implementar y consolidar una propuesta que intent? contribuir a la vivencia de formas distintas de relaci?n interpersonal en el aula de grado segundo de b?sica primaria. Palabras Clave: Trabajo Colaborativo, Gastronom?a Colombiana, Estrategia Pedag?gica.The present research project La Gastronom?a Colombiana: estrategia pedag?gica para el fortalecimiento del trabajo colaborativo entre los ni?os y ni?as del grado segundo del Gimnasio El Carrusel de la Ense?anza, is a qualitative work, ethnographic method, installed in the Training Research , which sought to contribute to solve the problems related to the pedagogical strategies that encouraged in the second grade classroom, the individual work of children when addressing activities in the classroom, identified from the observations and diagnosis made during the first phase of the investigation. Additionally, this proposal sought to implement a strategy focused on Colombian gastronomy that would strengthen the collaborative work of second grade boys and girls. During the second phase of the research process, the design and implementation of the Pedagogical Classroom Project (PPA) Saborea a Colombia, Convive con ella was advanced, through which integrated activities based on Colombian gastronomy were executed with children's recipes taken from the different regions of Colombia, with which it was intended to privilege the collaborative work of children to face school activities and different ways of relating to others. For the development of this research, we went, among other things, to the tracking of information related to Colombian gastronomy and pedagogical strategies related to collaborative work, which served as the basis to implement and consolidate a proposal that tried to contribute to the experience in different ways of interpersonal relationship in the second grade classroom of primary school. Keywords: Collaborative Work, Colombian Gastronomy, Pedagogical Strategy
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