Departament de Salut

Schizophrenia and autism share neurobiological mechanisms and overlapping clinical features, often resulting in the emergence of autistic traits in early stages of psychosis. The PANSS Autism Severity Score (PAUSS) provides a rapid measure of autistic features within the standard PANSS assessment. We aimed to determine the prevalence of autistic features in first-episode psychosis (FEP), characterise their clinical, cognitive, and functional profile, and examine their impact on 2-year outcomes. A total of 328 FEP patients were included from the PEPs multicentre cohort, followed for 2 years. Autistic features were rated using PAUSS (cut-off ≥ 30), yielding autistic (n = 38) and non-autistic (n = 290) groups. Sociodemographic, clinical, cognitive, and functional variables were analysed. Longitudinal analyses examined symptomatic remission rates and trajectories of psychopathology and functioning using logistic regression and mixed-model ANOVA. The autistic group represented 11.6% of the sample. At baseline, they exhibited lower birth weight, greater medication side effects, higher general psychopathology and depressive severity, and poorer global functioning. Cognitively, they showed significant deficits in working memory, social cognition, and cognitive reserve compared to the non-autistic group. Over 2 years, this group was 3.6 times less likely to achieve symptomatic remission and consistently exhibited higher symptom severity and lower functioning across all follow-ups. Autistic features in FEP identify a subgroup with a possible distinct profile of neurodevelopmental markers, greater cognitive and functional impairments, and poorer clinical outcomes. Early identification may guide more personalised interventions, although further research is needed to refine PAUSS specificity and develop targeted, tailored treatments.

Abstract Several neurodevelopmental disorders (NDDs) are characterized by impairments in social behavior and affective dysregulation. Converging evidence implicates the endocannabinoid system in the control of both behaviors. However, the brain region-specific contribution of cannabinoid receptor type 1 (CB1R) signaling to these NDD-relevant phenotypes remains unclear. The anterior insular cortex (aINS) is a key integrative hub involved in socio-emotional processing and social novelty recognition. Whether CB1Rs within this region are sufficient to regulate behavioral domains disrupted in NDDs remains unclear. Here, we employed a Cre-dependent viral strategy to selectively restore CB1R mRNA expression in the aINS of global CB1R-deficient mice. Region-specific rescue of CB1R in the aINS normalized social novelty discrimination and reduced anxiety-like behavior as compared to mice lacking CB1R, while leaving basal sociability and locomotor activity unaffected. In addition, insular CB1R re-expression modulated repetitive-like behaviors without broadly altering other behavioral domains. These effects were observed in the absence of off-target expression, supporting the specificity of the genetic manipulation. Our findings demonstrate that CB1R mRNA expression within the aINS is sufficient to regulate distinct socio-emotional and repetitive behavioral domains. These results identify the aINS as a critical CB1-dependent modulatory node and provide mechanistic insight into how region-specific endocannabinoid signaling contributes to behavioral phenotypes relevant to NDDs.

Catalonia is one of the regional pilots within the Horizon Europe RESIST project (2023–2027), aiming to improve regional and local preparedness for extreme risks such as floods, forest fires, and extreme heat.In the pilot cities of Terrassa, Blanes, and Alcanar, two digital technologies have been deployed: a real-time Multi-Hazard Early Warning System (EWS) and Site-specific Impact-based Warnings. These systems utilize meteorological observations and model forecasts alongside local sensor data and risk mapping to provide municipalities with actionable insights. These decision-making support tools help local authorities and emergency managers move beyond reactive crisis management to more effective and targeted resource allocation. Complementing these technical solutions is a Citizen Participatory Toolkit, designed to integrate the lived experiences of local residents and vulnerable populations into risk communication strategies. The presentation showcases ongoing demonstrations and lessons learned across the pilot sites in building local climate resilience by integrating technology developments with social participation. This approach enables Civil Protection, first responders, and the public to move toward a more proactive, inclusive, and better-prepared emergency management, while fostering community self-protection.

Active normal faults in the Central Apennines accommodate ongoing crustal extension and have generated significant earthquakes (up to Mw ~7) during historical and instrumental times. However, several fault systems, including the Gran Sasso fault system (GSFS), lack documented surface-rupturing earthquakes, raising questions about their structural maturity, role in accommodating the extension in this region, and their potential to generate future large-magnitude events.Here, we investigate the relationship between fault geometry, cumulative displacement, and slip rate along the Gran Sasso fault system located 19km north of L’Aquila, a system consisting of two major normal faults with an overall length of ~46 km. These include(i) the Campo Imperatore fault, consisting of two segments measuring roughly 20 km and 8 km, and (ii) the Assergi fault, which extends about 18 km along the western flank of the Gran Sasso massif. Both faults exhibit a consistent average W-E orientation with secondary structure tending WNW-ESE. Our aim is to assess the structural maturity and seismic significance of the GSFS within the broader Apennine fault network.Using high-resolution Pleiades satellite imagery combined with existing geological maps and field observation, we mapped in detail the active fault trace and identified displaced geomorphic markers. The analysis focuses on two main fault segments, the Campo Imperatore and Assergi segments, along which a well-preserved Holocene fault scarp is continuously expressed. Scarp height was measured accurately along strike using several complementary approaches, including field-based observations, topographic profiles extracted from high-resolution DEMs, and the automated ScarpLearn algorithm (Pousse et al., 2022), which identifies and quantifies fault scarp morphology together with associated uncertainties. Preliminary results indicate that vertical displacement varies between ~2 and 16 m, locally reaching up to ~20 m along the Campo Imperatore segment. These results are analyzed in relation to fault architecture to assess how geometric complexities, such as relay zones and step-overs, influence displacement distribution along strikeField investigations and detailed mapping along the Campo Imperatore fault allowed the identification of three key sites where fluvial terraces and glacial moraines are displaced and can be used as geomorphic markers of fault slip. Samples were collected for ^36Cl cosmogenic exposure dating of these surfaces. When combined with measured offsets, these exposure ages provide constraints on average late Quaternary slip rates and on the long-term activity of the fault, under the assumption that the dated surfaces record cumulative displacement since their abandonment.

Progenitor proliferation during neurodevelopment requires tight coordination of epigenetic regulation and metabolism. However, the crosstalk between these processes remains poorly understood. To investigate this, we examine in neural stem cells the role of PHF8, a histone demethylase whose mutations are linked to Siderius-Hamel syndrome, a rare neurodevelopmental disorder. Through an integrated multi-omics approach - combining transcriptomics, epigenomics, and metabolomics - we identify PHF8 as a key driver of the serine biosynthesis pathway, safeguarding the intracellular serine pool essential for neural progenitor proliferation. PHF8 fine-tunes chromatin accessibility at promoters of metabolic genes, ensuring their activation during development. Loss of PHF8 disrupts amino acid metabolism, blocks autophagy, and hinders vesicle formation. Ultimately PHF8 depletion leads to replication defects, DNA damage, and proliferation arrest. In vivo, PHF8 deficiency in mouse embryos halts neurogenesis, progenitor expansion, and neuron generation in the developing brain. These findings identify PHF8 as a key molecular link between chromatin regulation, metabolic control, and neural development, offering new insights into the epigenetic basis of neurodevelopmental and metabolic disorders.

La revisión de 2024 de los criterios de McDonald representa la actualización más sustancial de los estándares diagnósticos de esclerosis múltiple (EM) desde su creación. Estos criterios amplían significativamente el papel de la resonancia magnética (RM), introduciendo el nervio óptico como una quinta localización anatómica para demostrar la diseminación en el espacio (DIS), incorporando biomarcadores basados en susceptibilidad, como el signo de la vena central (CVS) y las lesiones con borde paramagnético (PRL), como herramientas diagnósticas, eliminando la necesidad de diseminación en el tiempo (DIT) si las lesiones están presentes en cuatro o más localizaciones, y permitiendo el diagnóstico de EM en individuos con síndrome radiológico aislado (RIS). Estos cambios aumentan el peso de los hallazgos de imagen para realizar el diagnóstico y, en consecuencia, la responsabilidad del radiólogo en el proceso diagnóstico. Esta revisión ofrece una guía práctica para radiólogos: resume cambios clave con sus implicaciones radiológicas directas, describe protocolos de imagen recomendados, ofrece orientación sobre la interpretación de nuevos biomarcadores de imagen y aborda desafíos continuos en la implementación clínica. The 2024 revision of the McDonald criteria represents the most substantial update to multiple sclerosis (MS) diagnostic standards since their inception. These criteria expand the role of MRI, introducing the optic nerve as a fifth anatomical location for demonstrating dissemination in space, incorporating susceptibility-based biomarkers, such as the central vein sign and paramagnetic rim lesions, eliminating the mandatory requirement for dissemination in time when lesions are present in four or more locations, and permitting MS diagnosis in individuals with radiologically isolated syndrome. These changes substantially increase the diagnostic weight of imaging findings and, consequently, the responsibility of radiologists in the diagnostic pathway. This review provides a practical guide for radiologists, summarizing key changes with direct radiological implications, outlining recommended imaging protocols including susceptibility-sensitive sequences, offering guidance on interpretation of novel biomarkers and avoidance of diagnostic pitfalls, and addressing considerations for special populations including older patients and those with vascular comorbidities.

We present a chromosome-level reference genome for the blind scorpion Belisarius xambeui Simon, 1879 (Belisariidae, Scorpiones). The genome size estimated by flow cytometry (4.32 Gb) closely matches the final assembly size (3.98 Gb). The final assembly comprises 19,045 scaffolds, including 56 chromosome-level scaffolds (pseudochromosomes) that account for 90.08% of the total assembly. Nucleotide diversity across the genome was low, with an average π of 0.0018.