Toward the European Health Data Space: The IMPaCT-Data secure infrastructure for EHR-based precision medicine research.

BACKGROUND: Art. 50 of the proposal for a Regulation on the European Health Data Space (EHDS) states that "health data access bodies shall provide access to electronic health data only through a secure processing environment, with technical and organizational measures and security and interoperability requirements". OBJECTIVE: To identify specific security measures that nodes participating in health data spaces shall implement based on the results of the IMPaCT-Data project, whose goal is to facilitate the exchange of electronic health records (EHR) between public entities based in Spain and the secondary use of this information for precision medicine research in compliance with the General Data Protection Regulation (GDPR). DATA AND METHODS: This article presents an analysis of 24 out of a list of 72 security measures identified in the Spanish National Security Scheme (ENS) and adopted by members of the federated data infrastructure developed during the IMPaCT-Data project. RESULTS: The IMPaCT-Data case helps clarify roles and responsibilities of entities willing to participate in the EHDS by reconciling technical system notions with the legal terminology. Most relevant security measures for Data Space Gatekeepers, Enablers and Prosumers are identified and explained. CONCLUSION: The EHDS can only be viable as long as the fiduciary duty of care of public health authorities is preserved; this implies that the secondary use of personal data shall contribute to the public interest and/or to protect the vital interests of the data subjects. This condition can only be met if all nodes participating in a health data space adopt the appropriate organizational and technical security measures necessary to fulfill their role.

Traditional Atlantic Diet and Its Effect on Health and the Environment: A Secondary Analysis of the GALIAT Cluster Randomized Clinical Trial.

Importance: The universal call to action for healthier and more sustainable dietary choices is the framework of the United Nations's Sustainable Development Goals. The Atlantic diet, originating from the northwest of the Iberian Peninsula, represents an example of a traditional diet that aligns with these principles. Objective: To explore a 6-month intervention based on the Atlantic diet's effects on metabolic and environmental health, assessing metabolic syndrome (MetS) incidence and the carbon footprint. Design, Setting, and Participants: The Galician Atlantic Diet study was a 6-month randomized clinical trial designed to assess the effects of this regional traditional diet on families' eating habits. The study was conducted from March 3, 2014, to May 29, 2015, at a local primary health care center in the rural town of A Estrada in northwestern Spain and involved a multisectoral collaboration. Families were randomly selected from National Health System records and randomized 1:1 to an intervention or control group. This secondary analysis of the trial findings was performed between March 24, 2021, and November 7, 2023. Interventions: Over 6 months, families in the intervention group received educational sessions, cooking classes, written supporting material, and foods characteristic of the Atlantic diet, whereas those randomized to the control group continued with their habitual lifestyle. Main Outcomes and Measures: The main outcomes were MetS incidence, defined per National Cholesterol Education Program Adult Treatment Panel III guidelines, and carbon footprint emissions as an environmental metric using life cycle assessment with daily dietary intake as the functional unit. Results: Initially, 250 families were randomized (574 participants; mean [SD] age, 46.8 [15.7] years; 231 males [40.2%] and 343 females [59.8%]). The intervention group included 126 families (287 participants) and the control group, 124 families (287 participants). Ultimately, 231 families completed the trial. The intervention significantly reduced the risk of incident cases of MetS (rate ratio, 0.32; 95% CI, 0.13-0.79) and had fewer MetS components (proportional odds ratio, 0.58; 95% CI, 0.42-0.82) compared with the control condition. The intervention group did not have a significantly reduced environmental impact in terms of carbon footprint emissions compared with the control group (-0.17 [95% CI, -0.46 to 0.12] kg CO2 equivalents/person/d). Conclusions and Relevance: These findings provide important evidence that a family-focused dietary intervention based on a traditional diet can reduce the risk of incident MetS. Further research is needed to understand the underlying mechanisms and determine the generalizability to other populations, taking into account regional cultural and dietary variations. Trial Registration: ClinicalTrials.gov Identifier: NCT02391701.

Gender identity and sexual orientation of people with autism spectrum disorder: a systematic review / Identidad de género y orientación sexual de las personas con Trastorno del Espectro del Autismo: una revisión sistemática

There has been growing interest about gender identity and sexual orientation in people with autism spectrum disorder. This systematic review analyses 18 studies conducted since 2016 that met the inclusion criteria. The aim was to gather evidence of gender identity, gender dysphoria, and sexual orientation in the ASD population. The results indicate an increased prevalence of non-conforming gender identity and gender dysphoria in people with ASD. There was also evidence of greater prevalence of non-heterosexual orientation in people with ASD than people without ASD. These results were particularly found in women with ASD. However, more studies are needed, especially about women, children and adolescents, to ensure that there are suitable support and resources to meet the needs of this population. (AU)

En los últimos años ha surgido un creciente interés en relación con la identidad de género y la orientación sexual de las personas con trastorno del espectro del autismo (TEA). La presente revisión sistemática analiza un total de 18 estudios, publicados a partir de 2016, con la finalidad de obtener evidencias acerca de la identidad y disforia de género, y la orientación sexual en la población con TEA. Los resultados indicaron que existe una mayor prevalencia de identidad de género no conforme y de disforia de género en la población con TEA. Se encontró una mayor prevalencia de orientación no heterosexual en las personas con TEA en comparación con la población sin TEA. Estos resultados se encuentran preferentemente en las mujeres con TEA. No obstante, es necesario disponer de más y mejores evidencias sobre esta temática, especialmente en mujeres, y en las etapas de la niñez y la adolescencia, con el fin de implementar apoyos y recursos adecuados para dar respuesta a las necesidades de estas personas. (AU)

Shock obstructivo secundario a hernia diafragmática: una rara complicación tras cirugía esofágica / Obstructive shock secondary to diaphragmatic hernia: An uncommon complication after esophageal surgery

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Notch 1 signalling in human T-cell development and leukemia

Los receptores Notch regulan diferentes aspectos del desarrollo de losmetazoos y de la renovación tisular, que incluyen decisiones binarias dedestino celular, supervivencia, proliferación o diferenciación, en diferentestipos celulares y tejidos y en diferentes contextos celulares. En hematopoyesis, la señalización por Notch contribuye activamente al desarrollo de loslinfocitos T, induciendo un programa madurativo específico en los progenitores que llegan al timo procedentes de las células madre hematopoyéticas (HSC) de la médula ósea y bloqueando, simultáneamente, la generación de linajes celulares alternativos. Conforme a esta importante función, la desregulación de la señalización por Notch tiene consecuencias crí-ticas para la supervivencia y proliferación de las células T y contribuye significativamente a la generación de la leucemia T linfoblástica aguda (TALL). Por tanto, el estudio de las vías moleculares inducidas por Notch quedeterminan la maduración de los progenitores T, así como su transformación oncogénica durante el desarrollo intratímico, constituye una importante área de investigación en la actualidad. Se ha demostrado la participación de varios genes y rutas de señalización, tales como c-myc, NF-κBy PI3K, en la oncogénesis de las células T inducida por Notch y más recientemente se ha sugerido la implicación del receptor de la interleucina 7(IL-7R) en el proceso. En esta revisión discutiremos recientes estudios moleculares que revelan cómo Notch determina la generación de linfocitos T apartir de los inmigrantes intratímicos y cómo su desregulación puede contribuir a la generación de leucemias T-ALL, en parte debido a la regulacióndirecta de la expresión del IL-7R (AU)

Notch receptors regulate many aspects of metazoan developmentand tissue renewal, such as binary cell-fate decisions, survival, proliferationand differentiation, in different cell types and in a context dependentmanner. In hematopoiesis, Notch signalling actively contributes to Tcell development by driving hematopoietic stem cell- (HSC-) derivedprogenitors seeding the thymus into the T-cell lineage, while simultaneouslyavoiding alternative cell fates. According to this critical role, deregulatedNotch signalling has important consequences in T-cell generation, survivaland proliferation during thymopoiesis, and significantly contributes tothe generation of T-cell acute lymphoblastic leukemias (T-ALL). Therefore,understanding Notch-dependent molecular pathways that controlphysiological and pathological development of T-cell progenitors withinthe thymus has become an intensive area of research in recent years. Severalgenes and signalling cascades, including c-myc, NF-κB and PI3K, havebeen identified as critical targets involved in Notch-induced T-celloncogenesis, and others such as interleukin-7 receptor (IL-7R) have recentlybeen suggested to participate in the process. In this review, we highlightrecent studies on Notch that reveal new molecular details about howNotch signalling guides human thymic immigrants along the T-cell lineageand how deregulated activation of Notch can contribute to T cellleukemogenesis, in part by directly regulating expression of the IL-7R (AU)