El clima motivacional a les classes d’Educació Física: una aproximació pràctica des de la Teoria de Fites d’Assoliment

Al treball següent es fa una anàlisi dels processos motivacionals que es desenvolupen a les classes d’Educació Física. Prenent com a fonament la Teoria de les Fites d’Assoliment (Nicholls, 1989; Ames, 1992), s’expliquen cada un dels diferents constructes que formen la teoria esmentada (Orientacions, Climes i Implicacions Motivacionals) i la relació entre ells. També s’hi exposen diverses investigacions que han demostrat aquestes relacions, i de quina manera el desenvolupament d’un clima que implica vers la tasca pot millorar i fer més adaptatius els patrons conductuals dels alumnes. Finalment, es fa una proposta metodològica per desenvolupar un clima que impliqui vers la tasca per part del professorat d’Educació Física, amb els beneficis que això reporta

Phenotypic characterization of a new EPM2A mutation (N163D)

2nd Biennial International Lafora Workshop. La Jolla, California, 23-24 de junio de 2016.Lafora disease (LD, OMIM 254780) is a fatal rare disorder characterized by epilepsy and neurodegeneration. In the vast majority of cases LD is related to mutations in either the EPM2A gene (encoding the glucan phosphatase laforin) or the EPM2B gene (encoding the E3-ubiquitin ligase malin). Alterations in these genes consist of deletions or missense and nonsense mutations. These alterations are spread all over the laforin and malin protein sequences and it remains to be shown whether they correlate with the severity of the disease. We have recently gained access to a primary fibroblast sample form a compound heterozygous EPM2A patient (Y112X/N163D), who shows a slow progression of the disease. As the Y112X mutation is related to regular progression of the disease and to our knowledge the laforin N 163D mutation is novel, here we have carried out the phenotypic characterization of the laforin N163D mutation. We have expressed the laforin-N 163D mutant in bacteria and purified the corresponding protein. Using OMFP as substrate we have observed no major changes in phosphatase activity. The mutant protein was also as stable as wild type when expressed either in bacteria or in mammalian cells. However, it showed a severe impairment in the interaction with regular laforin partners, as laforin itself, malin, R5/PTG and R6 (by yeast two-hybrid assays). Probably, this lack of interaction is the cause of the pathogenic profile of this novel mutation. We have recently reported that human primary fibroblasts from LD patients have an impairment of mitochondrial function with increased production of reactive oxygen species (ROS). In agreement with these observations we found that primary fibroblasts from EPM2A Y112X/N 163D patient presented higher levels of superoxide and lower levels of superoxide dismutase activity. The levels of thioredoxin1 (Trx1) were also decreased in the LD samples. All these results indicate that primary fibroblasts from EPM2A Y112X/N163D patient suffer from oxidative stress.This work was supported by grants from the Spanish Ministry of Education and Science (SAF2014-54604-C3-1-R) and from CIBERER to PS.Peer reviewe

Improve and application of a new methodologic tool adapted to the European Higher Education Area applied in Degree in Food Science and Technology (CYTA), in Forest Engineering (GIFOR) and in Veterinary

La masificación en las aulas de las universidades plantea grandes retos en el desarrollo de la enseñanza según el modelo del Espacio Europeo de Enseñanza Superior (EEES). El presente trabajo desarrolló una herramienta metodológica (Píldoras Informativas) para potenciar la implicación del alumnado en el aprendizaje autónomo, basado en la creación y edición de videos por parte del alumnado, guiada, orientada y evaluada por el profesor mediante las Guías Director. Se ha llevado a cabo la introducción de las píldoras informativas en las sesiones expositivas de asignaturas de grados impartidos en la Universidad de Córdoba, incluyendo asignaturas inmersas en itinerario de inglés. Con los resultados obtenidos se plantea la creación de seminarios de difusión de la metodología para profesorado en formación.The overcrowding in the classrooms of the universities poses great challenges in the development of the teaching according to the model of the European Space of Higher Education (EHEA). The present work developed a methodological tool (Informative Pills) to enhance the involvement of students in autonomous learning, based on the creation and editing of videos by the students, guided and evaluated by the teacher through the Director Guides. The introduction of the informative pills has been carried out in the expositive sessions of subjects taught at the University of Córdoba, including subjects immersed in the English language. With the results obtained, it is proposed the creation of seminars to disseminate the methodology for teaching staff in training. Keywords: Information pills, short videos, active student participation

An empirical pipeline for personalized diagnosis of Lafora disease mutations

22 páginas, 6 figuras, 2 tablas. Contiene material suplementarioLafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either EPM2A, encoding the glycogen phosphatase laforin, or EPM2B, encoding the E3 ligase malin, cause LD. Whole exome sequencing has revealed many EPM2A variants associated with late-onset or slower disease progression. We established an empirical pipeline for characterizing the functional consequences of laforin missense mutations in vitro using complementary biochemical approaches. Analysis of 26 mutations revealed distinct functional classes associated with different outcomes that were supported by clinical cases. For example, F321C and G279C mutations have attenuated functional defects and are associated with slow progression. This pipeline enabled rapid characterization and classification of newly identified EPM2A mutations, providing clinicians and researchers genetic information to guide treatment of LD patients.This work was supported by the National Institutes of Health (P01 NS097197 to M.S.G., J.M.S. and P.S., R35 NS116824 to M.S.G., and F31 NS093892 to M.K.B), National Science Foundation (DBI2018007 and MCB1817414 to M.S.G.), and Epilepsy Foundation New Therapy Commercialization Grant to M.S.G. M.K.B. received funding from the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement (No. 754510M). This project also received funding from the Spanish Ministry of Science and Innovation (SAF2017-83151-R to P.S. and RTI2018-095784b-100SAF to J.M.S).Peer reviewe

Atopic dermatitis and indoor use of energy sources in cooking and heating appliances

Background: Atopic dermatitis (AD) prevalence has considerably increased worldwide in recent years. Studying indoor environments is particularly relevant, especially in industrialised countries where many people spend 80% of their time at home, particularly children. This study is aimed to identify the potential association between AD and the energy source (biomass, gas and electricity) used for cooking and domestic heating in a Spanish schoolchildren population. Methods: As part of the ISAAC (International Study of Asthma and Allergies in Childhood) phase III study, a cross-sectional population-based survey was conducted with 21,355 6-to-7-year-old children from 8 Spanish ISAAC centres. AD prevalence, environmental risk factors and the use of domestic heating/cooking devices were assessed using the validated ISAAC questionnaire. Crude and adjusted odds ratios (cOR, aOR) and 95% confidence intervals (CIs) were obtained. A logistic regression analysis was performed (Chi-square test, p-value < 0.05). Results: It was found that the use of biomass systems gave the highest cORs, but only electric cookers showed a significant cOR of 1.14 (95% CI: 1.01-1.27). When the geographical area and the mother’s educational level were included in the logistic model, the obtained aOR values differed moderately from the initial cORs. Electric heating was the only type which obtained a significant aOR (1.13; 95% CI: 1.00-1.27). Finally, the model with all selected confounding variables (sex, BMI, number of siblings, mother’s educational level, smoking habits of parents, truck traffic and geographical area), showed aOR values which were very similar to those obtained in the previous adjusted logistic analysis. None of the results was statistically significant, but the use of electric heating showed an aOR close to significance (1.14; 95% CI: 0.99-1.31). Conclusion: In our study population, no statistically significant associations were found between the type of indoor energy sources used and the presence of AD

III Congreso de innovación docente en clásicas en la Comunidad de Madrid: Los retos de la enseñanza online

Memoria final del PIMCD 58/202

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Effectiveness of Fosfomycin for the Treatment of Multidrug-Resistant Escherichia coli Bacteremic Urinary Tract Infections

IMPORTANCE The consumption of broad-spectrum drugs has increased as a consequence of the spread of multidrug-resistant (MDR) Escherichia coli. Finding alternatives for these infections is critical, for which some neglected drugs may be an option. OBJECTIVE To determine whether fosfomycin is noninferior to ceftriaxone or meropenem in the targeted treatment of bacteremic urinary tract infections (bUTIs) due to MDR E coli. DESIGN, SETTING, AND PARTICIPANTS This multicenter, randomized, pragmatic, open clinical trial was conducted at 22 Spanish hospitals from June 2014 to December 2018. Eligible participants were adult patients with bacteremic urinary tract infections due to MDR E coli; 161 of 1578 screened patients were randomized and followed up for 60 days. Data were analyzed in May 2021. INTERVENTIONS Patients were randomized 1 to 1 to receive intravenous fosfomycin disodium at 4 g every 6 hours (70 participants) or a comparator (ceftriaxone or meropenem if resistant; 73 participants) with the option to switch to oral fosfomycin trometamol for the fosfomycin group or an active oral drug or pa renteral ertapenem for the comparator group after 4 days. MAIN OUTCOMES AND MEASURES The primary outcome was clinical and microbiological cure (CMC) 5 to 7 days after finalization of treatment; a noninferiority margin of 7% was considered. RESULTS Among 143 patients in the modified intention-to-treat population (median [IQR] age, 72 [62-81] years; 73 [51.0%] women), 48 of 70 patients (68.6%) treated with fosfomycin and 57 of 73 patients (78.1%) treated with comparators reached CMC (risk difference, -9.4 percentage points; 1-sided 95% CI, -21.5 to infinity percentage points; P = .10). While clinical or microbiological failure occurred among 10 patients (14.3%) treated with fosfomycin and 14 patients (19.7%) treated with comparators (risk difference, -5.4 percentage points; 1-sided 95% CI. -infinity to 4.9; percentage points; P = .19), an increased rate of adverse event-related discontinuations occurred with fosfomycin vs comparators (6 discontinuations [8.5%] vs 0 discontinuations; P = .006). In an exploratory analysis among a subset of 38 patients who underwent rectal colonization studies, patients treated with fosfomycin acquired a new ceftriaxone-resistant or meropenem-resistant gram-negative bacteria at a decreased rate compared with patients treated with comparators (0 of 21 patients vs 4 of 17 patients [23.5%]; 1-sided P = .01). CONCLUSIONS AND RELEVANCE This study found that fosfomycin did not demonstrate noninferiority to comparators as targeted treatment of bUTI from MDR E coli; this was due to an increased rate of adverse event-related discontinuations. This finding suggests that fosfomycin may be considered for selected patients with these infections

Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

TP53 abnormalities are underlying the poor outcome associated with chromothripsis in chronic lymphocytic leukemia patients with complex karyotype

Simple Summary Chromothripsis, a genomic event that generates massive chromosomal rearrangements, has been described in 1-3% of CLL patients and is associated with poor prognostic factors (e.g., TP53 abnormalities and genomic complexity). However, previous studies have not assessed its role in CLL patients with complex karyotypes. Herein, we aimed to describe the genetic characteristics of 33 CLL patients with high genomic complexity and chromothripsis. Moreover, we analyzed the clinical impact of chromothripsis, comparing these patients against a cohort of 129 patients with complex karyotypes not presenting this catastrophic event. Nine cases were also assessed via the novel cytogenomic methodology known as optical genome mapping. We confirmed that this phenomenon is heterogeneous and associated with a shorter time to first treatment. Nonetheless, our findings suggested that TP53 abnormalities, rather than chromothripsis itself, underlie the dismal outcome. Chromothripsis (cth) has been associated with a dismal outcome and poor prognosis factors in patients with chronic lymphocytic leukemia (CLL). Despite being correlated with high genome instability, previous studies have not assessed the role of cth in the context of genomic complexity. Herein, we analyzed a cohort of 33 CLL patients with cth and compared them against a cohort of 129 non-cth cases with complex karyotypes. Nine cth cases were analyzed using optical genome mapping (OGM). Patterns detected by genomic ..