Culture of sustainability, cooperation and development: realities and perspectives in Galicia and Dominican Republic

[Resumo] O propósito deste artigo é presentar unha das metodoloxías de estudo -e resultados iniciais- nas que se sustenta o proxecto de investigación “Cultura da sostibilidade e cooperación ao desenvolvemento: realidade e perspectivas educativas en Galicia e República Dominicana (PR815 A 2014-17, Convocatoria 2014 de Subvencións en Investigación para o Desenvolvemento da Direción Xeral de Relacións Exteriores da Xunta de Galicia). O proxecto ten entre os seus obxectivos analizar o discurso referido á cultura da sustentabilidade e a cooperación ao desenvolvemento integrado nos libros de texto correspondentes ao nivel de bacharelato en Galicia, mediante a selección de 8 libros de texto, catro do ámbito das Ciencias Sociais e outro catro de Ciencias Naturais e exactas, en ambos territorios. Enténdese o libro de texto como ferramenta básica na orientación da práctica docente e dos contidos transmitidos, partindo de que toda selección e abordaxe supón un posicionamento ideolóxico en relación ao tipo de persoas que queremos formar e para que sociedades. A continuación preséntase a ferramenta de análise e se reflicte en torno a súas posibilidades de aplicación, tomando como exemplo de estudo o libro de Bioloxía e Xeoloxía de 1º de Bachalerato de Galicia e outro Bioloxía, de 3º medio, da República Dominicana.[Abstract] The purpose of this article is to present one of the study methodologies -and its initial resultsin which is sustained the project of research “Culture of sustainability and development cooperation: reality and educational perspectives in Galicia and Dominican Republic" (PR815 A 2014-17, Call 2014 for grants in Research for the Development for the Direción Xeral de Relación Exteriores of Xunta de Galicia). The project has among his goals to analyze the speech related to the culture of sustainability and cooperation to the integrated development in Galicia in the text books of high school, through the selection of 8 text books, four of the area of the Social Sciences and another four of Natural and Exact Sciences, in both territories. We understand the text book as a basic tool in the orientation of the educational practice and its contents, assuming that every selection and approach requires an ideological positioning related to the type of people and society we want

Integration of emerging motion capture technologies and videogames for human upper-limb telerehabilitation: A systematic review

Integrating emerging technologies has shown to have the potential to improve access to rehabilitation services and the adherence for physical therapy when they are applied into telemedicine environments. This systematic review aims to explore telerehabilitation systems that use motion capture and video games for upper-limb rehabilitation purposes. Motion capture was focused on the information fusion from inertial sensors and other technologies. The search was limited to 2010-2013, from which 667 papers were obtained; afterwards, duplicate papers were removed, thus, reducing the sample to 57 papers with full text availability. Finally, only 3 of them were selected by approaching the subject of this study. We conclude that the fusion information from inertial sensors and other motion capture technologies appears to be a new tendency in remote monitoring of motor rehabilitation process. However, the combination of them with active video games in physiotherapy programs is only an emerging research area with promising results

The role of maternal age, growth and environment in shaping offspring performance in an aerial conifer seed bank

This is the author accepted manuscript. The final version is available from the Botanical Society of America via the DOI in this recordData Availability: The R code (doi: 10.6084/m9.figshare.17158469) and primary data (doi: 10.6084/m9.figshare.15097185) are available in Figshare.PREMISE Maternal effects have been demonstrated to affect offspring performance in many organisms and, in plants, seeds are important mediators of these effects. Some woody plant species maintain long-lasting canopy seed banks as an adaptation to wildfires. Importantly, these seeds stored in serotinous cones are produced by the mother plant under varying ontogenetic and physiological conditions. METHODS We sampled the canopy seed bank of a highly serotinous Pinus pinaster population to test if maternal age and growth, as well as the environmental conditions during each crop year, affected seed mass and ultimately germination and early survival. After determining retrospectively the year of each seed cohort, we followed germination and early survival in a semi-natural common garden. KEY RESULTS We found that seed mass was related to maternal age and growth at the time of seed production, i.e. slow growth-older mothers had smaller seeds and fast growth-young mothers had bigger seeds, which could be interpreted either as a proxy of senescence or as a maternal strategy. We also confirmed that seed mass had a positive effect on germination success, but beyond differences in seed mass, maternal age had a negative effect and diameter had a positive effect on germination timing and subsequent survival. CONCLUSIONS Thereby we highlight the importance of maternal conditions combined with seed mass in shaping seedling establishment. Our findings open new insights in the offspring performance deriving from long-term canopy seed banks, which may have high relevance for plant adaptation.Spanish Government, Ministry of Science, Innovation and Universities (MICIU

A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility

Introduction: A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy.<p></p> Methods: Sixty-six non-HLA SNPs showing a P value <10-4 in the discovery phase of the French SSc GWAS were analyzed in the first step of this study, performing a meta-analysis that combined data from the two published SSc GWASs. A total of 2,921 SSc patients and 6,963 healthy controls were included in this first phase. Two SNPs, PPARG rs310746 and CHRNA9 rs6832151, were selected for genotyping in the replication cohort (1,068 SSc patients and 6,762 healthy controls) based on the results of the first step. Genotyping was performed by using TaqMan SNP genotyping assays. Results: We observed nominal associations for both PPARG rs310746 (PMH = 1.90 × 10-6, OR, 1.28) and CHRNA9 rs6832151 (PMH = 4.30 × 10-6, OR, 1.17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0.066; OR, 1.17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (PMH = 5.00 × 10-7; OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis.<p></p> Conclusion: Our results suggest a role of PPARG gene in the development of SSc

Del color de los ojos al interior del genoma. Nuevas tecnologías aplicadas a la educación: una experiencia en la enseñanza de la Genética

Depto. de Genética, Fisiología y MicrobiologíaFac. de Ciencias BiológicasFALSEsubmitte

GWAS for Systemic Sclerosis Identifies Multiple Risk Loci and Highlights Fibrotic and Vasculopathy Pathways

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.Funding: This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50-HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1-0423 and DoD W81XWH-16-1-0296, respectively

Cross-disease Meta-analysis of Genome-wide Association Studies for Systemic Sclerosis and Rheumatoid Arthritis Reveals IRF4 as a New Common Susceptibility Locus

Objectives: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that share clinical and immunological characteristics. To date, several shared SSc- RA loci have been identified independently. In this study, we aimed to systematically search for new common SSc-RA loci through an inter-disease meta-GWAS strategy. Methods: We performed a meta-analysis combining GWAS datasets of SSc and RA using a strategy that allowed identification of loci with both same-direction and opposingdirection allelic effects. The top single-nucleotide polymorphisms (SNPs) were followed-up in independent SSc and RA case-control cohorts. This allowed us to increase the sample size to a total of 8,830 SSc patients, 16,870 RA patients and 43,393 controls. Results: The cross-disease meta-analysis of the GWAS datasets identified several loci with nominal association signals (P-value < 5 x 10-6), which also showed evidence of association in the disease-specific GWAS scan. These loci included several genomic regions not previously reported as shared loci, besides risk factors associated with both diseases in previous studies. The follow-up of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these two diseases (Pcombined = 3.29 x 10-12). In addition, the analysis of the biological relevance of the known SSc-RA shared loci pointed to the type I interferon and the interleukin 12 signaling pathways as the main common etiopathogenic factors. Conclusions: Our study has identified a novel shared locus, IRF4, for SSc and RA and highlighted the usefulness of cross-disease GWAS meta-analysis in the identification of common risk loci

Herramientas de aprendizaje para estudiantes de secundaria en el campo de la Genética

Se ha diseñado una actividad: la caracterización molecular de la mutación de un gen que modifica el color de los ojos en Drosophila melanogaster, partiendo de un carácter morfológico, el color de los ojos, se obtendrá la secuencia del gen responsable y su localización en el genoma de la especie. Se pretende desarrollar una actividad práctica que permita a los alumnos de segundo ciclo de la ESO comprender la genética y la genómica y cómo estos conocimientos se pueden aplicar a distintas áreas: salud, biotecnología o impacto ambiental

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER), "A way of making Europe".Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals

A genome-wide association study identifies risk alleles in plasminogen and P4HA2 associated with giant cell arteritis

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analysed in 2,134 cases and 9,125 unaffected controls from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, P = 1.94E-54, per-allele OR = 1.79; and rs9275592, P = 1.14E-40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, P = 1.23E-10, OR = 1.28; and rs128738, P = 4.60E-09, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis