ICT education policy of the Community of Madrid (Spain): the teachers' perspective

Las políticas 1:1 nacionales se concretaron en España con el programa «Escuela 2.0» pero, en el caso de la Comunidad de Madrid, la concreción de esta política se denomina «Institutos de Innovación Tecnológica». A diferencia del programa Escuela 2.0, se caracteriza por el tipo de dotación y cursos a los que se dirigía. En este caso, en vez de ordenadores portátiles, se optó por terminales fijos anclados al suelo que dependen de varios servidores por aula y, en vez de llevarse a cabo en 5º y 6º de primaria, se comenzó a implantar en 1º y 2º de la ESO. Una política TIC que quiere producir cambios en los centros de educación secundaria obligatoria que participan en el proyecto para aumentar el éxito educativo del alumnado, entendido como mejora de los resultados académicos. En este trabajo se presentan las opiniones y expectativas del profesorado de educación secundaria de la Comunidad de Madrid respecto al impacto que tendrá esta política en sus prácticas docentes, en la forma de agrupar al alumnado, en el uso de materiales didácticos digitales y en las habilidades digitales del alumnado.Nationals Spain policies 1:1 were specified in most of Spain's territories through the «School 2.0» program, but in the case of the Community of Madrid, the national policy was defined through the «Technological Innovation Schools» program. This latter program aimed to introduce changes on the use of ICT in the Secondary Schools which joined the project, in order to increase the educational success of students, understood as improving academic outcomes. Both programs differ in the kind of technological equipment provided to the centers and in the grades targeted. Unlike the "School 2.0" program, which provided laptops to the schools, in Madrid fixed terminals fastened to the floor were chosen, which depended on multiple servers per classroom. On the other hand, rather than focus in 5th and 6th grade, it was implemented in 1st and 2nd grade of Secondary Education. In this study, the Secondary Education teachers' opinions and expectations about the impact of this policy in their teaching practices (students grouping, use of digital learning materials and students' digital competences) are described

Perspectivas sobre o processo de ensinoaprendizagem-avaliação numa universidade portuguesa e outra espanhola

This article is the result of an investigation in higher education to identify factors of convergence and divergence of pedagogical practices for the understanding of the students' learning evaluation process at the University of Évora (Portugal) and the University of Castilla-La Mancha (Spain). The research methodology was framed on an interpretative paradigm through a mixed approach whose participants were the students and teachers of the teacher education courses. Data were collected through interviews with teachers, a questionnaire to students, and the analysis of institutional documents. The results reveal a strong relationship between the two universities, but with some relevant differences in the assessment dimension. The results reveal a strong relationship between pedagogical practices, in both universities, but with some relevant differences in the evaluative dimensionEl artículo que se presenta es un estudio para identificar los factores de convergencia y de divergencia en la práctica pedagógica con el fin de comprender el proceso de evaluación de los aprendizajes en la Universidad de Évora (Portugal) y en la Universidad de Castilla-La Mancha (España). Se empleó una metodología mixta desde un paradigma interpretativo con la participación de estudiantes y docentes de los grados de Educación Primaria. Los datos fueron recogidos mediate entrevistas a los docentes, un cuestionario a los estudiantes y el análisis de documentos institucionales. Los resultados indican una fuerte relación entre las prácticas pedagógicas, en ambas universidades, detectándose algunas diferencias relevantes en la dimensión evaluativa

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

<p>Abstract</p> <p>Background</p> <p>Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the <it>USH2A </it>gene account for 74-90% of the USH2 cases.</p> <p>Methods</p> <p>To identify the genetic cause of the disease and determine the frequency of <it>USH2A </it>mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing.</p> <p>Results</p> <p>As a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and <it>in vitro </it>experiments, 37 variants (23 of them novel) were classified as pathogenic mutations.</p> <p>Conclusions</p> <p>This report provide a wide spectrum of <it>USH2A </it>mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in <it>USH2A </it>are responsible for 76.1% of USH2 disease in patients of Spanish origin.</p

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Generation and characterization of a defective HIV-1 Virus as an immunogen for a therapeutic vaccine

BACKGROUND: The generation of new immunogens able to elicit strong specific immune responses remains a major challenge in the attempts to obtain a prophylactic or therapeutic vaccine against HIV/AIDS. We designed and constructed a defective recombinant virus based on the HIV-1 genome generating infective but non-replicative virions able to elicit broad and strong cellular immune responses in HIV-1 seropositive individuals. RESULTS: Viral particles were generated through transient transfection in producer cells (293-T) of a full length HIV-1 DNA carrying a deletion of 892 base pairs (bp) in the pol gene encompassing the sequence that codes for the reverse transcriptase (NL4-3/ΔRT clone). The viral particles generated were able to enter target cells, but due to the absence of reverse transcriptase no replication was detected. The immunogenic capacity of these particles was assessed by ELISPOT to determine γ-interferon production in a cohort of 69 chronic asymptomatic HIV-1 seropositive individuals. Surprisingly, defective particles produced from NL4-3/ΔRT triggered stronger cellular responses than wild-type HIV-1 viruses inactivated with Aldrithiol-2 (AT-2) and in a larger proportion of individuals (55% versus 23% seropositive individuals tested). Electron microscopy showed that NL4-3/ΔRT virions display immature morphology. Interestingly, wild-type viruses treated with Amprenavir (APV) to induce defective core maturation also induced stronger responses than the same viral particles generated in the absence of protease inhibitors. CONCLUSIONS: We propose that immature HIV-1 virions generated from NL4-3/ΔRT viral clones may represent new prototypes of immunogens with a safer profile and stronger capacity to induce cellular immune responses than wild-type inactivated viral particles.This study was supported by grants FIS PI050265, FIS PI040503, FIS PI070291, FIS Intrasalud 080752, FIS PS09/01297, FIS PI10/02984, SAF2006-26667-E, FIT 09-010-205-9, FIPSE 36780/08, Fundación Mútua Madrileña, TRA-094, EC10-153, ISCIII-RETIC RD06/0006, HIVACAT–HIV Development Program in Catalonia, FIPSE 36630/07, UE Program Health 2009 CHAARM. Spanish Health Institute Carlos III (ISCIII) and the Health Department of the Catalan Government (Generalitat de Catalunya). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.S

Strategies to reengage patients lost to follow up in HIV care in high income countries, a scoping review

Background: Despite remarkable achievements in antiretroviral therapy (ART), losses to follow-up (LTFU) might prevent the long-term success of HIV treatment and might delay the achievement of the 90-90-90 objectives. This scoping review is aimed at the description and analysis of the strategies used in high-income countries to reengage LTFU in HIV care, their implementation and impact. Methods: A scoping review was done following Arksey & O'Malley's methodological framework and recommendations from Joanna Briggs Institute. Peer reviewed articles were searched for in Pubmed, Scopus and Web of Science; and grey literature was searched for in Google and other sources of information. Documents were charted according to the information presented on LTFU, the reengagement procedures used in HIV units in high-income countries, published during the last 15 years. In addition, bibliographies of chosen articles were reviewed for additional articles. Results: Twenty-eight documents were finally included, over 80% of them published in the United States later than 2015. Database searches, phone calls and/or mail contacts were the most common strategies used to locate and track LTFU, while motivational interviews and strengths-based techniques were used most often during reengagement visits. Outcomes like tracing activities efficacy, rates of reengagement and viral load reduction were reported as outcome measures. Conclusions: This review shows a recent and growing trend in developing and implementing patient reengagement strategies in HIV care. However, most of these strategies have been implemented in the United States and little information is available for other high-income countries. The procedures used to trace and contact LTFU are similar across reviewed studies, but their impact and sustainability are widely different depending on the country studied

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)

Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Data on convalescent plasma (CP) treatment in COVID-19 outpatients are scarce. We aimed to assess whether CP administered during the first week of symptoms reduced the disease progression or risk of hospitalization of outpatients. Two multicenter, double-blind randomized trials (NCT04621123, NCT04589949) were merged with data pooling starting when = 50 years and symptomatic for <= 7days were included. The intervention consisted of 200-300mL of CP with a predefined minimum level of antibodies. Primary endpoints were a 5-point disease severity scale and a composite of hospitalization or death by 28 days. Amongst the 797 patients included, 390 received CP and 392 placebo; they had a median age of 58 years, 1 comorbidity, 5 days symptoms and 93% had negative IgG antibody-test. Seventy-four patients were hospitalized, 6 required mechanical ventilation and 3 died. The odds ratio (OR) of CP for improved disease severity scale was 0.936 (credible interval (CI) 0.667-1.311); OR for hospitalization or death was 0.919 (CI 0.592-1.416). CP effect on hospital admission or death was largest in patients with <= 5 days of symptoms (OR 0.658, 95%CI 0.394-1.085). CP did not decrease the time to full symptom resolution

Llibre Blanc de la mediació a Catalunya

Projectes científics associats: IDT SGR2009-688; ONTOMEDIA CSO-2008-05536-SOCI, TSI-20501-2008-131; GCC SGR2009-221; GREL SGR2009-357; SGR2009-1328; AT CSD2007-0022; AT COST IC0801Altres ajuts: TSI-20501-2008-131Altres ajuts: COST-IC0801L'estudi que es presenta ara és fruit de gairebé dos anys de treball. Una cartografia completa de les experiències en mediació en tots els àmbits socials, de les escoles als hospitals, de les empreses als nuclis familiars, de la mediació comunitària als conflictes de consum o laborals, de la mediació penal a la mediambiental. També s'hi ha incorporat una anàlisi dels costos de la mediació i de la seva configuració jurídica. La conjunció de les fotografies en relleu i dels estudis més teòrics han fet possible la reflexió ulterior, les interpretacions crítiques i, en darrer terme, les conclusions i les recomanacions, que ens ajudaran a progressar. La mediació permet detenir l'escalada dels conflictes i sostreure'ls de la resolució judicial, per implicar les parts i fer-les protagonistes actives de les solucions a què arribin. Des del Departament de Justícia, ens interessa superar l'excessiva judicialització dels conflictes -insatisfactòria per a tothom- i promoure instruments que facilitin, de manera àgil però amb totes les garanties, la intel·ligència dels problemes i, a partir d'aquí, la fixació de les millors solucions per a les parts implicades, que elles mateixes hauran construït