Participación social de las personas con trastornos del espectro autista: tensiones, resistencias y lecciones aprendidas

Este recorrido investigativo tuvo como fin co-construir con las personas con trastornos del espectro autista (TEA) y sus familias mecanismos individuales y comunitarios para ejercer su derecho a la participación social. Desde un enfoque crítico-social realizamos una Investigación-Acción-Participación (IAP) a través de diálogos permanentes, relaciones entre pares, reconocimientos y aprendizajes mutuos del entorno y el fortalecimiento de habilidades comunicativas diversas, individuales y colectivas, dirigidas a la transformación en el ámbito privado y público. Reconocimos las barreras existentes que han hecho difícil que las personas con TEA y sus familias sean escuchadas en los espacios de participación e incidencia política. No obstante, desde cada familia y su red social más cercana, creamos mecanismos propios de comunicación para integrar a la persona con TEA en procesos de inclusión social. Este caminar conjunto por los espacios de participación de las personas con TEA y sus familias nos permitió el reconocimiento de otras formas de relacionarse que mostraron un amplio espectro de maneras de participar en su propio contexto. Se podría pensar que esta diversidad de formas de participar existe en un número igual a las diferentes formas como cada persona con TEA percibe y se relaciona con el mundo. Reconocimos el papel de la madre, quien de manera creativa optimiza los recursos existentes en su entorno para potenciar las capacidades y las habilidades de sus hijos. Las relaciones al interior de la familia cumplen un papel fundamental desde el ámbito privado, ya que crean espacios de participación cotidiana que potencian el deseo por incidir en la vida pública en las personas con TEA. Logramos con los jóvenes con TEA, sus familias y la Liga Colombiana de Autismo (LICA) que la voz de Diego fuera escuchada en espacios públicos, donde mostró con liderazgo el trabajo continuo que vienen haciendo para transformar el concepto que la sociedad tiene sobre las personas con TEA. Se reconoció la importancia de fortalecer los espacios de diálogo público y privado, en donde se brindan herramientas de participación y de liderazgo a las personas con TEA, a sus familias y a las organizaciones de la sociedad civil para lograr la inclusión pública. Por otro lado, es desde los espacios privados, cercanos y familiares en donde se aprende a comunicar, a concertar y a alcanzar acuerdos reales y efectivos; capacidades necesarias para formar líderes y personas interesadas en participar de forma pública para promover los procesos de inclusión social.Maestrí

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

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

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

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