Ajuar

Ajuar és la recerca personal de relacions i vincles que s'amaguen dins l'intangible material. Partint de la tradició a la que dona nom, es crea un objecte motivador i introductori de l’aixovar que dona resposta al que podria ser considerat en l’actualitat. Això s’esdevé mitjançant la confecció d’un llibre intervenible que barreja relat amb exercicis d’introspecció per tal de fer Ajuar, resultant una eina de reflexió del significat del terme i on habita dins de l’existent personal.Ajuar es la búsqueda personal de relaciones y vínculos que se esconden dentro del intangible material. Partiendo de la tradición a la que da nombre, se crea un objecto motivador e introductorio de ajuar que da respuesta a lo que podría ser considerado en la actualidad. Esto se produce mediante la confección de un libro intervenible que mezcla relato con ejercicios introspectivos para hacer Ajuar, resultando una herramienta de reflexión del significado del término en donde habita dentro del existente personal.Ajuar is a research project into the relationships and links hidden within intangible matter. Starting from the tradition that gives name to the project, it is about the creation of a motivating and introductory object that tries to respond to what a trousseau could be considered today. This happens through the confection of a mediatory book that combines the story with introspective exercices to make a personal Ajuar, becoming as a result a tool for reflection into the meaning of the term Ajuar and where it resides within the personal realm toda

Estudio del hábito lector y la percepción literaria en alumnos de 4.º de Educación Secundaria Obligatoria

El presente estudio pretende conocer los hábitos lectores de los jóvenes de Educación Secundaria, reflexionar sobre su percepción de la literatura, detectar los problemas que encuentran al abordar una obra literaria y plantear propuestas de mejora desde sus propias motivaciones. Para ello hemos seleccionado una muestra representativa de alumnos de 4.º ESO, quienes contestaron a un cuestionario compuesto por preguntas abiertas y cerradas que han puesto de relieve la disonancia entre el sistema de trabajo o evaluación de las lecturas literarias y sus propios intereses. Con los resultados obtenidos, consideramos que se hace necesaria una revisión de los métodos de trabajo que todavía siguen vigentes en muchos institutos de Educación Secundaria, habida cuenta de que la motivación es un elemento esencial para el aprendizaje

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map focused on the identification, characterization, and phasing of structural variants (SVs). By integrating multiple variant identification methods and Logistic Regression Models (LRMs), we present a catalogue of 35 431 441 variants, including 89 178 SVs (≥50 bp), 30 325 064 SNVs and 5 017 199 indels, across 785 Illumina high coverage (30x) whole-genomes from the Iberian GCAT Cohort, containing a median of 3.52M SNVs, 606 336 indels and 6393 SVs per individual. The haplotype panel is able to impute up to 14 360 728 SNVs/indels and 23 179 SVs, showing a 2.7-fold increase for SVs compared with available genetic variation panels. The value of this panel for SVs analysis is shown through an imputed rare Alu element located in a new locus associated with Mononeuritis of lower limb, a rare neuromuscular disease. This study represents the first deep characterization of genetic variation within the Iberian population and the first operational haplotype panel to systematically include the SVs into genome-wide genetic studies.GCAT|Genomes for Life, a cohort study of the Genomes of Catalonia, Fundació Institut Germans Trias i Pujol (IGTP); IGTP is part of the CERCA Program/Generalitat de Catalunya; GCAT is supported by Acción de Dinamización del ISCIII-MINECO; Ministry of Health of the Generalitat of Catalunya [ADE 10/00026]; Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) [2017-SGR 529]; B.C. is supported by national grants [PI18/01512]; X.F. is supported by VEIS project [001-P-001647] (co-funded by European Regional Development Fund (ERDF), ‘A way to build Europe’); a full list of the investigators who contributed to the generation of the GCAT data is available from www.genomesforlife.com/; Severo Ochoa Program, awarded by the Spanish Government [SEV-2011-00067 and SEV2015-0493]; Spanish Ministry of Science [TIN2015-65316-P]; Innovation and by the Generalitat de Catalunya [2014-SGR-1051 to D.T.]; Agencia Estatal de Investigación (AEI, Spain) [BFU2016-77244-R and PID2019-107836RB-I00]; European Regional Development Fund (FEDER, EU) (to M.C.); Spanish Ministry of Science and Innovation [FPI BES-2016-0077344 to J.V.M.]; C.S. received funding from the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement [H2020-MSCA-COFUND-2016-754433]; this study made use of data generated by the UK10K Consortium from UK10K COHORT IMPUTATION [EGAS00001000713]; formal agreement with the Barcelona Supercomputing Center (BSC); this study made use of data generated by the Genome of the Netherlands’ project, which is funded by the Netherlands Organization for Scientific Research [184021007], allowing us to use the GoNL reference panel containing SVs, upon request (GoNL Data Access request 2019203); this study also used data generated by the Haplotype Reference Consortium (HRC) accessed through the European Genome-phenome Archive with the accession numbers EGAD00001002729; formal agreement of the Barcelona Supercomputing Center (BSC) with WTSI; this study made use of data generated by the 1000 Genomes (1000G), accessed through the FTP portal (http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/); this study used the GeneHancer-for-AnnotSV dump for GeneCards Suite Version 4.14, through a formal agreement between the BSC and the Weizmann Institute of Science. Funding for open access charge: GCAT|Genomes for Life, a cohort study of the Genomes of Catalonia, Fundació Institut Germans Trias i Pujol (IGTP); IGTP is part of the CERCA Program/Generalitat de Catalunya; GCAT is supported by Acción de Dinamización del ISCIII-MINECO; Ministry of Health of the Generalitat of Catalunya [ADE 10/00026]; Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) [2017-SGR 529]; B.C. is supported by national grants [PI18/01512]; X.F. is supported by VEIS project [001-P-001647] (co-funded by European Regional Development Fund (ERDF), ‘A way to build Europe’); a full list of the investigators who contributed to the generation of the GCAT data is available from www.genomesforlife.com/; Severo Ochoa Program, awarded by the Spanish Government [SEV-2011-00067 and SEV2015-0493]; Spanish Ministry of Science [TIN2015-65316-P]; Innovation and by the Generalitat de Catalunya [2014-SGR-1051 to D.T.]; [Agencia Estatal de Investigación (AEI, Spain) [BFU2016-77244-R and PID2019-107836RB-I00]; European Regional Development Fund (FEDER, EU) (to M.C.); Spanish Ministry of Science and Innovation [FPI BES-2016-0077344 to J.V.M.]; C.S. received funding from the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement [H2020-MSCA-COFUND-2016-754433]; this study made use of data generated by the UK10K Consortium from UK10K COHORT IMPUTATION [EGAS00001000713]; formal agreement with the Barcelona Supercomputing Center (BSC); this study made use of data generated by the Genome of the Netherlands’ project, which is funded by the Netherlands Organization for Scientific Research [184021007], allowing us to use the GoNL reference panel containing SVs, upon request (GoNL Data Access request 2019203); this study also used data generated by the Haplotype Reference Consortium (HRC) accessed through the European Genome-phenome Archive with the accession numbers EGAD00001002729; formal agreement of the Barcelona Supercomputing Center (BSC) with WTSI; this study made use of data generated by the 1000 Genomes (1000G), accessed through the FTP portal (http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/); this study used the GeneHancer-for-AnnotSV dump for GeneCards Suite Version 4.14, through a formal agreement between the BSC and The Weizmann Institute of Science."Article signat per 21 autors/es: Jordi Valls-Margarit, Iván Galván-Femenía, Daniel Matías-Sánchez, Natalia Blay, Montserrat Puiggròs, Anna Carreras, Cecilia Salvoro, Beatriz Cortés, Ramon Amela, Xavier Farre, Jon Lerga-Jaso, Marta Puig, Jose Francisco Sánchez-Herrero, Victor Moreno, Manuel Perucho, Lauro Sumoy, Lluís Armengol, Olivier Delaneau, Mario Cáceres, Rafael de Cid, David Torrents"Postprint (published version

Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk

Background: Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment. Interrogating functional genetic variants enhances our understanding of disease pathogenesis and the development and optimization of targeted interventions. Methods: In this study, a total of 187 plasma metabolite levels were profiled in 4974 individuals of European ancestry of the GCAT| Genomes for Life cohort. Results of genetic analyses were meta-analysed with additional datasets, resulting in up to approximately 40,000 European individuals. Results of meta-analyses were integrated with reference gene expression panels from 58 tissues and cell types to identify predicted gene expression associated with metabolite levels. This approach was also performed for cardiovascular outcomes in three independent large European studies (N = 700,000) to identify predicted gene expression additionally associated with cardiovascular risk. Finally, genetically informed mediation analysis was performed to infer causal mediation in the relationship between gene expression, metabolite levels and cardiovascular risk. Results: A total of 44 genetic loci were associated with 124 metabolites. Lead genetic variants included 11 non-synonymous variants. Predicted expression of 53 fine-mapped genes was associated with 108 metabolite levels; while predicted expression of 6 of these genes was also associated with cardiovascular outcomes, highlighting a new role for regulatory gene HCG27. Additionally, we found that atherogenic metabolite levels mediate the associations between gene expression and cardiovascular risk. Some of these genes showed stronger associations in immune tissues, providing further evidence of the role of immune cells in increasing cardiovascular risk. Conclusions: These findings propose new gene targets that could be potential candidates for drug development aimed at lowering the risk of cardiovascular events through the modulation of blood atherogenic metabolite levels

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map focused on the identification, characterization, and phasing of structural variants (SVs). By integrating multiple variant identification methods and Logistic Regression Models (LRMs), we present a catalogue of 35 431 441 variants, including 89 178 SVs (≥50 bp), 30 325 064 SNVs and 5 017 199 indels, across 785 Illumina high coverage (30x) whole-genomes from the Iberian GCAT Cohort, containing a median of 3.52M SNVs, 606 336 indels and 6393 SVs per individual. The haplotype panel is able to impute up to 14 360 728 SNVs/indels and 23 179 SVs, showing a 2.7-fold increase for SVs compared with available genetic variation panels. The value of this panel for SVs analysis is shown through an imputed rare Alu element located in a new locus associated with Mononeuritis of lower limb, a rare neuromuscular disease. This study represents the first deep characterization of genetic variation within the Iberian population and the first operational haplotype panel to systematically include the SVs into genome-wide genetic studies

Socioeconomic Inequalities in the External Exposome in European Cohorts:The EXPANSE Project

Socioeconomic inequalities in the exposome have been found to be complex and highly context-specific, but studies have not been conducted in large population-wide cohorts from multiple countries. This study aims to examine the external exposome, encompassing individual and environmental factors influencing health over the life course, and to perform dimension reduction to derive interpretable characterization of the external exposome for multicountry epidemiological studies. Analyzing data from over 25 million individuals across seven European countries including 12 administrative and traditional cohorts, we utilized domain-specific principal component analysis (PCA) to define the external exposome, focusing on air pollution, the built environment, and air temperature. We conducted linear regression to estimate the association between individual- and area-level socioeconomic position and each domain of the external exposome. Consistent exposure patterns were observed within countries, indicating the representativeness of traditional cohorts for air pollution and the built environment. However, cohorts with limited geographical coverage and Southern European countries displayed lower temperature variability, especially in the cold season, compared to Northern European countries and cohorts including a wide range of urban and rural areas. The individual- and area-level socioeconomic determinants (i.e., education, income, and unemployment rate) of the urban exposome exhibited significant variability across the European region, with area-level indicators showing stronger associations than individual variables. While the PCA approach facilitated common interpretations of the external exposome for air pollution and the built environment, it was less effective for air temperature. The diverse socioeconomic determinants suggest regional variations in environmental health inequities, emphasizing the need for targeted interventions across European countries.</p

Biological basis of extensive pleiotropy between blood traits and cancer risk

Background: The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to which common genetic variation influences blood traits and cancer risk remains largely undetermined. Here, we identify pleiotropic variants and predict their underlying molecular and cellular alterations. Methods: Multivariate Cox regression was used to evaluate associations between blood traits and cancer diagnosis in cases in the UK Biobank. Shared genetic variants were identified from the summary statistics of the genome-wide association studies of 27 blood traits and 27 cancer types and subtypes, applying the conditional/conjunctional false-discovery rate approach. Analysis of genomic positions, expression quantitative trait loci, enhancers, regulatory marks, functionally defined gene sets, and bulk- and single-cell expression profiles predicted the biological impact of pleiotropic variants. Plasma small RNAs were sequenced to assess association with cancer diagnosis. Results: The study identified 4093 common genetic variants, involving 1248 gene loci, that contributed to blood-cancer pleiotropism. Genomic hotspots of pleiotropism include chromosomal regions 5p15-TERT and 6p21-HLA. Genes whose products are involved in regulating telomere length are found to be enriched in pleiotropic variants. Pleiotropic gene candidates are frequently linked to transcriptional programs that regulate hematopoiesis and define progenitor cell states of immune system development. Perturbation of the myeloid lineage is indicated by pleiotropic associations with defined master regulators and cell alterations. Eosinophil count is inversely associated with cancer risk. A high frequency of pleiotropic associations is also centered on the regulation of small noncoding Y-RNAs. Predicted pleiotropic Y-RNAs show specific regulatory marks and are overabundant in the normal tissue and blood of cancer patients. Analysis of plasma small RNAs in women who developed breast cancer indicates there is an overabundance of Y-RNA preceding neoplasm diagnosis. Conclusions: This study reveals extensive pleiotropism between blood traits and cancer risk. Pleiotropism is linked to factors and processes involved in hematopoietic development and immune system function, including components of the major histocompatibility complexes, and regulators of telomere length and myeloid lineage. Deregulation of Y-RNAs is also associated with pleiotropism. Overexpression of these elements might indicate increased cancer risk

SELNET clinical practice guidelines for bone sarcoma

Bone sarcoma are infrequent diseases, representing < 0.2% of all adult neoplasms. A multidisciplinary management within reference centers for sarcoma, with discussion of the diagnostic and therapeutic strategies within an expert multidisciplinary tumour board, is essential for these patients, given its heterogeneity and low frequency. This approach leads to an improvement in patient's outcome, as demonstrated in several studies. The Sarcoma European Latin-American Network (SELNET), aims to improve clinical outcome in sarcoma care, with a special focus in Latin-American countries. These Clinical Practice Guidelines (CPG) have been developed and agreed by a multidisciplinary expert group (including medical and radiation oncologist, surgical oncologist, orthopaedic surgeons, radiologist, pathologist, molecular biologist and representatives of patients advocacy groups) of the SELNET consortium, and are conceived to provide the standard approach to diagnosis, treatment and follow-up of bone sarcoma patients in the Latin-American context