Annual Conference on Formative Research on EFL. Practices thar inspire change.

The conference papers of the Annual Conference on Formative Research on EFL. Practices thar inspire change collect pedagogical experiences, research reports, and reflections about social issues, language teaching, teaching training, interculturality under the panorama of the Covid-19 pandemic. Each paper invites the reader to implement changes in their teaching practice through disruptive pedagogies, reflect on the social and emotional consequences of the lockdown, new paths for teacher training and different approaches for teaching interculturality. We expect to inspire new ways to train pre-service teachers and teach languages in this changing times

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

Resilience and psychological distress in pregnant women during quarantine due to the COVID-19 outbreak in Spain: a multicentre cross-sectional online survey

Purpose To examine the prevalence of depressive and anxiety symptoms and the corresponding risk factors among pregnant women during the confinement due to the COVID-19 outbreak in Spain. Materials and methods Between 15 April and 14 May 2020, a multicentre cross-sectional survey was performed to study depression, anxiety and resilience in a sample of Spanish pregnant women during the lockdown set up by the Government in response to COVID-19 pandemic outbreak. We designed an anonymous online self-administered questionnaire (https://bit.ly/34RRpq1) that included the Spanish validated versions of the Edinburgh Postpartum Depression Scale (EPDS), the State-Trait Anxiety Inventory (STAI) and the Connor-Davidson Resilience 10-items Scale (CD-RISC-10). Results A total of 514 pregnant women completed the survey. 72.8% had been confined < 40 days and 27.2% between 41 and 60 days. 182 (35.4%) participants scored over 10, with 21.3% scoring over 13 (75th Percentile) in depressive symptoms rates. We found high trait and anxiety scores, with 223 (43.4%) and 227 (44.2%) pregnant women scoring over the trait and state mean scores. Neither depression, anxiety or resilience levels showed any significant correlation with the length of confinement. We found low CD-RISC-10 scores. Conclusions We found a high prevalence of depression and anxiety symptoms during the quarantine, although we did not find an increased prevalence of psychological distress according to length of home confinement. Resilience correlated negatively with depression and anxiety

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele