Bases genéticas de los trastornos del espectro autista: estudio de la variación común y rara

En el presente proyecto de tesis se ha abordado el estudio de las bases genéticas de los trastornos del espectro autista (TEA) desde diferentes perspectivas. En primer lugar, se ha llevado a cabo un GBA que ha permitido identificar nuevos loci asociados a los TEA. En segundo lugar, se ha comprobado que las mutaciones postcigóticas (PZMs) tienen un papel importante en la etiología de los TEA y que los genes con PZMs intervienen en mecanismos biológicos diferentes a los de los genes con mutaciones germinales. Finalmente se ha estimado el rendimiento diagnóstico de la secuenciación de exoma completo en una cohorte gallega de TEA

De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, de novo mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (post-zygotic mutations), and we outline the main bioinformatics tools commonly employed to study these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be providedAA-G was supported by Fundación María José Jove. CR-F was supported by a contract from the ISCIII and FEDERS

Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by its significant social impact and high heritability. The latest meta-analysis of ASD GWAS (genome-wide association studies) has revealed the association of several SNPs that were replicated in additional sets of independent samples. However, summary statistics from GWAS can be used to perform a gene-based analysis (GBA). GBA allows to combine all genetic information across the gene to create a single statistic (p-value for each gene). Thus, PASCAL (Pathway scoring algorithm), a novel GBA tool, has been applied to the summary statistics from the latest meta-analysis of ASD. GBA approach (testing the gene as a unit) provides an advantage to perform an accurate insight into the biological ASD mechanisms. Therefore, a gene-network analysis and an enrichment analysis for KEGG and GO terms were carried out. GENE2FUNC was used to create gene expression heatmaps and to carry out differential expression analysis (DEA) across GTEx v7 tissues and Brainspan data. dbMDEGA was employed to perform a DEG analysis between ASD and brain control samples for the associated genes and interactors.AA-G was supported by Fundación María José Jove. CR-F was supported by a contract from the ISCIII and FEDERS

Evaluación de la eficacia de la formación en la Administración Pública: la transferencia al puesto

This paper shows the results of the evaluation of training transfer in the Spanish Public Administration with the aim of identifying the factors that influence it.We analyzed 1475 answers and 69 courses organized by the Spanish Public Administration during the first semester of 2016. Direct transfer was evaluated through the Deferred Transfer Scale (CdE; Pineda, Quesada y Ciraso, 2011) while indirect transfer was evaluated through the Training Transfer Factors Scale (FET; Pineda, Quesada y Ciraso, 2013).The results show that trainee factors, organization factors, the orientation towards job requirements and the creation of a professional community all have a positive correlation with training transfer. However the duration of the training, the number of trainees and the number of instructors do not have a correlation with transfer.The time that laps until the trainees finally apply what they learnt in the training has an inverse correlation to transfer.The most important factor when it comes to predicting training transfer is the orientation towards job requirements.El artículo recoge los resultados de la evaluación de la transferencia de la formación en la Administración General del Estado con el fin de conocer los factores que en mayor medida influyen en que se produzca.Se analizaron las respuestas de 1.475 participantes en 69 cursos desarrollados por el INAP (Instituto Nacional de la Administración Pública) durante el primer semestre de 2016. Se evaluó la transferencia directa con el Cuestionario de Eficacia de la Formación (CdE; Pineda, Quesada y Ciraso 2011) y la indirecta con el cuestionario de Factores de Eficacia de la Transferencia (FET; Pineda, Quesada y Ciraso, 2013).Los resultados muestran que los factores de los participantes, del lugar de trabajo, la orientación a las necesidades del puesto y la generación de una red profesional tienen una relación positiva con la transferencia. Sin embargo la duración de la formación, el número de participantes y el número de profesores no presentan relación con la transferencia. El tiempo que el participante tarda en aplicar lo aprendido se relaciona inversamente con la transferencia.La dimensión más relevante de cara a predecir la transferencia es la orientación a las necesidades del puesto

Exploring the biological role of postzygotic and germinal de novo mutations in ASD

De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different biological hierarchies (gene, biological pathway, cell and brain areas) using bioinformatic approaches. For the majority of the analysis, a combined ASD cohort (N = 2171 trios) was created using previously published data by the Autism Sequencing Consortium (ASC). New plausible candidate genes for ASD such as FMR1 and NFIA were found. In addition, genes harboring PZMs were significantly enriched for miR-137 targets in comparison with germinal DNMs that were enriched in GO terms related to synaptic transmission. The expression pattern of genes with PZMs was restricted to early mid-fetal cortex. In contrast, the analysis of genes with germinal DNMs revealed a spatio-temporal window from early to mid-fetal development stages, with expression in the amygdala, cerebellum, cortex and striatum. These results provide evidence of the pathogenic role of PZMs and suggest the existence of distinct mechanisms between PZMs and germinal DNMs that are influencing ASD riskAA-G was supported by Fundación María José Jove. CR-F was supported by a contract from the FEDER. Instituto de Salud Carlos III/PI1900809/Cofinanciado FEDER supported this studyS

Validation of predicting transfer instruments in Spain

Purpose: The purpose of this paper is to validate two scales, the factors predicting transfer (FPT) and the effectiveness questionnaire (CdE), in the Spanish Public Administration (SPA). Design/methodology/approach: The FPT was administered at the end of the training, and the CdE four months after training. Participants had attended one of the 62 trainings offered by the SPA. With 1,457 participants, exploratory factor analysis (EFA; n = 728) and confirmatory factory analysis (CFA) (n = 729), randomly assigned, were performed on the FPT, and CFA (n = 726) was applied to the CdE. Findings: A 30-item and four-factor solution emerged for the FPT through the EFA, which was confirmed by a good model fit through the CFA. A seven-item single-factor solution was confirmed for the CdE. Measurement invariance for the mode of instruction and gender was accepted for both instruments. Research limitations/implications: Further research should be done in a more heterogenous sample that includes private organizations, different sectors and sizes. In the human resource development (HRD) field, these results suggest, in line with previous research, the existence of underlying constructs of factors of transfer that migrate across cultures. Practical implications: The potential use of the FPT is the diagnosis of factors of transfer, and for the CdE, evaluation of the transfer of interventions at the behavioral level. The instruments are suitable for research and practice that compares online and in-class training. Originality/value: The study performs the first rigorous analysis of measurement instruments to evaluate factors that predict transfer in Spain.2019-2

Adelante / Endavant

Séptimo desafío por la erradicación de la violencia contra las mujeres del Institut Universitari d’Estudis Feministes i de Gènere "Purificación Escribano" de la Universitat Jaume

Validación de un Instrumento de Medida de los Factores de Predicción de la Transferencia

Se presentan los resultados de la validación de dos instrumentos para medida de la transferencia y de los factores de predicción de la transferencia.2019-2

High speed adsorbent material

[ES] Material adsorbente de alta velocidad. La presente invención se refiere a un material adsorbente caracterizado por que es una espuma sólida macroporosa, que alcanza el equilibrio de adsorción y/o absorción en pocos segundos, sus procedimientos de obtención, así como sus usos en tratamientos de depuración/descontaminación de aguas mediante procesos de adsorción y/o absorción física y/o química de elementos tóxicos como Plomo, Zinc, Cadmio, y otros metales pesados sobre materiales adsorbentes. Esta invención está dirigida al sector medioambiental, especialmente a la gestión de aguas y residuos, o bien en la prevención y corrección de contaminación de aguas o suelos por metales pesados.[EN] High speed adsorbent material. The present invention refers to an adsorbent material characterized by that it is a solid macroporous foam, which reaches the balance of adsorption and/or absorption in a few seconds, its obtaining procedures, as well as its uses in purifying/decontamination of waters through Adsorption and/or physical and/or chemistry processes of toxic elements such as lead, zinc, cadmium, and other heavy metals on adsorbent materials. This invention is aimed at the environmental sector, especially water and waste management, or in the prevention and correction of water or soil contamination by heavy metal.NoConsejo Superior de Investigaciones Científicas (CSIC), Universidad de ExtremaduraA1 Solicitud de patente con informe sobre el estado de la técnic