7 research outputs found

    Nuevas formas de asesorar y apoyar a los centros educativos

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    Symposium coordinador por el Prof. Jesús Domingo, donde se describen cuatro experiencias que describen nuevas formas de asesorar y apoyar a los centros educativos: a) Los procesos de asesoramiento: la experiencia de ADEME; b) Proyecto ATLÁNTIDA: educación y cultura democráticas. Procesos de formación de la ciudadanía; c) Ayudando a nuestros centros a mejorar; y d) Innovación, cultura y poder en las instituciones educativas. Un estudio de caso. Se hace un balance general y se evalúan los alcances y las limitaciones encontradas

    Paradigmatic de novo GRIN1 variants recapitulate pathophysiological mechanisms underlying GRIN1-related disorder clinical spectrum

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    Background: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A and GRIN2B genes), which encode for the GluN subunit of the N-methyl D-aspartate (NMDA) type ionotropic glutamate receptors. A growing number of functional studies indicate that GRIN-encoded GluN1 subunit disturbances can be dichotomically classified into gain- and loss-of-function, although intermediate complex scenarios are often present. Methods: In this study, we aimed to delineate the structural and functional alterations of GRIN1 disease-associated variants, and their correlations with clinical symptoms in a Spanish cohort of 15 paediatric encephalopathy patients harbouring these variants. Results: Patients harbouring GRIN1 disease-associated variants have been clinically deeplyphenotyped. Further, using computational and in vitro approaches, we identified different critical checkpoints affecting GluN1 biogenesis (protein stability, subunit assembly and surface trafficking) and/or NMDAR biophysical properties, and their association with GRD clinical symptoms. Conclusions: Our findings show a strong correlation between GRIN1 variants-associated structural and functional outcomes. This structural-functional stratification provides relevant insights of genotypephenotype association, contributing to future precision medicine of GRIN1-related encephalo

    Hierarchical clustering analysis to detect associations between clinical and pathological features of gastric tumors and hypermethylation of suppressor genes Identificación de asociaciones clínico-patológicas e hipermetilación de genes supresores de tumor

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    Background: Methylation is an inactivation mechanism for tumor suppressor genes, that can have important clinical implications. Aim: To analyze the methylation status of 11 tumor suppressor genes in pathological samples of diffuse gastric cancer. Material and methods: Eighty three patients with diffuse gastric cancer with information about survival and infection with Epstein Barr virus, were studied. DNA was extracted from pathological slides and the methylation status of genes p14, p15, p16, APC, p73, FHIT, E-caderin, SEMA3B, BRCA-1, MINT-2 y MGMT, was studied using sodium bisulphite modification and polymerase chain reaction. Results were grouped according to the methylation index or Hierarchical clustering (TIGR MultiExperiment Viewer). Results: Three genes had a high frequency of methylation (FHIT, BRCA1, APC), four had an intermediate frequency (p15, MGMT, p14, MINT2) and four had a low frequency (p16, p73, E-cadherin, SEMA3B). The methylation index had no association with clinic

    Efectos de una especie invasora en Canarias: el conejo europeo

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    Rabbits are invasive to the Canary Islands, where they were introduced 500 years ago, during the conquest, from mainland Spain. Nowadays, they occupy all islands, almost all islets, and all the habitats of the archipelago. Rabbit negative impacts are manifested at different ecological levels, from affecting species population, to disrupt native networks of interactions, or to even cause the complete alteration of the structure of the ecosystem. Current ongoing researches in various ecosystems are very concluding: we are far from knowing how would be the natural looking of the ecosystems of the islands, and today we only see what is left after 500 years of herbivorous pressure. It is urgent to raise awareness of this serious problem to subsequently implement appropriate conservation measures to control and minimize the effects that rabbits are provoking to the incomparable and unique ecosystems of the Canary Islands.Peer reviewe

    A game changer: the use of digital technologies in the management of upper limb rehabilitation

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    Hemiparesis is a symptom of residual weakness in half of the body, including the upper extremity, which affects the majority of post stroke survivors. Upper limb function is essential for daily life and reduction in movements can lead to tremendous decline in quality of life and independence. Current treatments, such as physiotherapy, aim to improve motor functions, however due to increasing NHS pressure, growing recognition on mental health, and close scrutiny on disease spending there is an urgent need for new approaches to be developed rapidly and sufficient resources devoted to stroke disease. Fortunately, a range of digital technologies has led to revived rehabilitation techniques in captivating and stimulating environments. To gain further insight, a meta-analysis literature search was carried out using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) method. Articles were categorized and pooled into the following groups; pro/anti/neutral for the use of digital technology. Additionally, most literature is rationalised by quantitative and qualitative findings. Findings displayed, the majority of the inclusive literature is supportive of the use of digital technologies in the rehabilitation of upper extremity following stroke. Overall, the review highlights a wide understanding and promise directed into introducing devices into a clinical setting. Analysis of all four categories; (1) Digital Technology, (2) Virtual Reality, (3) Robotics and (4) Leap Motion displayed varying qualities both—pro and negative across each device. Prevailing developments on use of these technologies highlights an evolutionary and revolutionary step into utilizing digital technologies for rehabilitation purposes due to the vast functional gains and engagement levels experienced by patients. The influx of more commercialised and accessible devices could alter stroke recovery further with initial recommendations for combination therapy utilizing conventional and digital resources

    Characteristics and predictors of death among 4035 consecutively hospitalized patients with COVID-19 in Spain

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