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Inferring past demography and genetic adaptation in Spain using the GCAT cohort
No full textLocated in the southwestern corner of Europe, the Iberian Peninsula is separated from the rest of the continent by the Pyrenees Mountains and from Africa by the Strait of Gibraltar. This geographical position may have conditioned distinct selective pressures compared to the rest of Europe and influenced differential patterns of gene flow. In this work, we analyse 704 whole-genome sequences from the GCAT reference panel to quantify gene flow into Spain from various historical sources and identify the top signatures of positive (adaptive) selection. While we found no clear evidence of a 16th-century admixture event putatively related to the French diaspora during the Wars of Religion, we detected signals of North African admixture matching the Muslim period and the subsequent Christian Reconquista. Notably, besides finding that well-known candidate genes previously described in Eurasians also seem to be adaptive in Spain, we discovered novel top candidates for positive selection putatively associated with immunity and diet (UBL7, SMYD1, VAC14 and FDFT1). Finally, local ancestry deviation analysis revealed that the MHCIII genomic region underwent post-admixture selection following the post-Neolithic admixture with Steppe ancestry.This work was supported by PID2023-147621NB-I00 funded by MICIU/AEI/10.13039/501100011033 and by “ERDF A way of making Europe”. JGC was supported with an FPI-MCIN/AEI PhD contract (PRE2020-095762). GCAT was funded by Acción de Dinamización del ISCIII-MINECO and the Ministry of Health of the Generalitat of Catalunya [ADE 10/00026] and is supported by the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR) [SGR 01537]. SAB was also supported by the Czech Ministry of Education, Youth and Sports (CZ.02.01.01/00/22_008/0004593, RES-HUM: Ready for the Future: Understanding the Long-Term Resilience of Human Culture grant)
You’re offended, I’m offended: A face-based analysis of confrontational conversation
No full textDespite its ordinariness in everyday interaction, confrontational conversation is rarely examined in the field of pragmatics, particularly in studies concerned with interactional phenomena. So far, there is no account of what specifically makes an exchange confrontational, as opposed to non-confrontational. This dissertation addresses that gap by investigating whether there are necessary and sufficient conditions for confrontational conversation and, if so, what they are. The study draws on notions from Conversation Analysis, speech act theory, as well as politeness theory, particularly the notion of face. The investigation is carried out through corpus analyses using data from reality TV, judgement tasks, and dialogue annotation. I analyse the two minimal turns in conversation separately, focusing on their locution and illocution. The findings lead me to propose that, in order to identify confrontational conversation, the two turns must be considered together, and that the distinction from non-confrontation lies in the perlocution of the turns. I argue that for conversation to be confrontational, each of the two turns must result in the perlocutionary effect of offence.Universitat Pompeu Fabra. Doctorat en Traducció i Ciències del Llenguatg
Epigenetic age and long-term cancer risk following a stroke
No full textBackground: The association between increased cancer risk following a cerebrovascular event (CVE) has been previously reported. We hypothesize that biological age (B-age) acceleration is involved in this association. Our study aims to examine B-age as a novel contributing factor to cancer development post-CVE. Methods: From our prospective stroke registry (BasicMar), we selected 940 cases with epigenetic data. For this study, we specifically analyzed 648 of these patients who had available data, no prior history of cancer, and a minimum follow-up of 3 months. The primary outcome was cancer incidence. B-age was estimated using DNA methylation data derived from whole blood samples obtained within 24 h of stroke onset, employing various epigenetic clocks (including Hannum, Horvath, PhenoAge, Zhang, Zhang, and the mitotic epiTOC). Extrinsic epigenetic age acceleration (EEAA) was calculated as the residuals from the regression of B-age against chronological age (C-age). For epiTOC, the age-adjusted values were obtained by regressing out the effect of age from the raw epiTOC measurements. Estimated white cell counts were derived from DNA methylation data, and these cell fractions were used to compute the intrinsic epigenetic age acceleration (IEAA). Subsequently, we evaluated the independent association between EEAA, IEAA, and cancer incidence while controlling for potential confounding variables. Results: Among 648 patients with a median follow-up of 8.15 years, 83 (12.8%) developed cancer. Cox multivariable analyses indicated significant associations between Hannum, Zhang, and epiTOC EEAA and the risk of cancer after CVE. After adjusting for multiple testing and competing risks, EEAA measured by Hannum clock maintained an independent association with cancer risk. Specifically, for each year increase in Hannum's EEAA, we observed a 6.0% increased incidence of cancer (HR 1.06 [1.02-1.10], p value = 0.002). Conclusions: Our findings suggest that epigenetic accelerated aging, as indicated by Hannum's EEAA, may play a significant role in the increased cancer risk observed in CVE survivors
Hierarchical and multimodal learning for heterogeneous sound classification
No full textThis paper investigates multimodal and hierarchical classification strategies to enhance performance in real-world sound classification tasks, centered on the two-level structure of the Broad Sound Taxonomy. We propose a framework that enables the system to consider high-level sound categories when refining its predictions at the subclass level, thereby aligning with the natural hierarchy of sound semantics. To improve accuracy, we integrate acoustic features with semantic cues extracted from crowdsourced textual metadata of the sounds such as titles, tags, and descriptions. During training, we utilize and compare pre-trained embeddings across these modalities, enabling better generalization across acoustically heterogeneous yet semantically related categories. Our experiments show that the use of text-audio embeddings improve classification. We also observe that, although hierarchical supervision does not significantly impact accuracy, it leads to more coherent and perceptually structured latent representations. These improvements in classification performance and representation quality make the system more suitable for downstream tasks such as sound retrieval, description, and similarity search.This research was partially funded by the Secretaria d’Universitats i Recerca del Departament de Recerca i Universitats de la Generalitat de Catalunya (2024FI-100252) under the Joan Oró program, the IA y Música: Cátedra en Inteligencia Artificial y Música (TSI-100929-2023-1) by the Secretaría de Estado de Digitalización e Inteligencia Artificial and the European Union-Next Generation EU under the program Cátedras ENIA 2022, and the IMPA project (PID2023-152250OBI00) by the Ministry of Science, Innovation and Universities of the Spanish Government, the Agencia Estatal de Investigación (AEI) and co-financed by the European Unio
Which risk factors are related to failure to rescue in left pancreatectomy? Mixed cohort study (ERPANDIS and SPANDISPAN projects)
No full textMort i posteritat públiques de Maria Aurèlia Capmany i Montserrat Roig
No full textThe treatment of the deaths of Maria Aurèlia Capmany and Montserrat Roig both in the media and in the various commemorative events and initiatives organised in the months and years that followed generate rich and nuanced understanding of the public weight of these two women writers as well as providing insights into approaches to literary afterlives and commemoration in the Catalan cultural scene of the 1990s. This article is based on careful scrutiny of the various texts and discourses produced in memory of two emblematic women writers and public figures who themselves recognised the political and ethical importance of such practices of commemoration. It is followed by reproduction of an article written by Roig herself in memory of Capmany shortly before her own passing
Neuromuscular junction dynamics in muscle growth and atrophy
No full textSkeletal muscle exhibits remarkable adaptability in response to physiological and pathological stimuli. This study explores the plasticity of the neuromuscular junction (NMJ), a neural–muscle interface that is crucial for synapse formation and force transmission, with a focus on terminal (tSCs), post-synaptic myonuclei (Syn-myo), and muscle stem cells (MuSCs). We have implemented a three-dimensional visualization technique that maintains the spatial tissue context to delineate the communication changes between NMJ and MuSCs at the morphologic and molecular levels in muscle atrophy or hypertrophy. Our findings reveal that a subset of MuSCs is in intimate contact with the NMJ domain, potentially contributing to the local accretion of new Syn-myo. Additionally, tSC proliferation dynamics vary in response to neural- and muscular-derived cues. Using single-cell and single-nucleus RNA-sequencing as well as spatial transcriptomics, we have now characterized the transcriptional adaptations of MuSCs, SCs, and Syn-myo to distinct conditions. This work enhances our understanding of NMJ modulation and its critical role in muscle degeneration or growth.El músculo esquelético muestra una notable adaptabilidad en respuesta a estímulos fisiológicos y patológicos. Este estudio explora la plasticidad de la unión neuromuscular (NMJ), la interfaz neurona-músculo crucial para la formación de la sinapsis y transmisión de fuerza, centrándose en las células de Schwann terminales (tSCs), los mionúcleos postsinápticos (Syn-myo), y las células madre musculares (MuSC). Hemos implementado una técnica de visualización tridimensional que mantiene el contexto del tejido para delinear cambios en la comunicación entre las NMJs y MuSCs en la atrofia e hipertrofia muscular. Nuestros hallazgos revelan que un subconjunto de MuSCs está en contacto íntimo con el dominio de NMJs, contribuyendo potencialmente a la incorporación local de nuevos Syn-myo. Asimismo, la dinámica de proliferación de tSCs varía en respuesta a señales neurales y musculares. Los avances en secuenciación de ARN de células y núcleos individuales, así como la transcriptómica espacial, han caracterizado las adaptaciones transcripcionales en MuSCs, SCs y Syn-myo, mejorando nuestra comprensión sobre la modulación de la NMJ y su papel crítico en la degeneración o crecimiento muscular.Programa de Doctorat en Biomedicin
Effect of bariatric surgery on HDL-mediated cholesterol efflux capacity
No full textBackground: Bariatric surgery (BS) is the most effective intervention for severe obesity, leading to sustained weight loss, reduced obesity-related comorbidities, and cardiovascular mortality. Aim: To assess changes in high-density lipoprotein (HDL) functions [cholesterol efflux capacity (CEC) and anti-inflammatory capacity] at different follow-up times in patients with severe obesity undergoing BS. Methods: A prospective observational study within a cohort of consecutively enrolled patients with severe obesity scheduled to undergo BS. In total, 62 participants (77% women), with a mean age of 42.1 years (SD 9.33 years) underwent BS. Regarding the surgical procedure, 27 (43.5%) underwent sleeve gastrectomy and 35 (56.5%) Roux-en-Y gastric bypass. All patients were evaluated preoperatively and at 1, 3, 6, and 12 months after surgery. Results: A decrease in body mass index and an improvement in the systemic lipid profile, indicated by reductions in total cholesterol, low-density lipoprotein cholesterol (LDLc), and remnant cholesterol, and an increase in HDL cholesterol (HDLc) was observed (all p trend < 0.001). Time-series comparisons vs. baseline showed that, in general, anthropometric measures, glycemia, total cholesterol, LDLc, and remnant cholesterol decreased at all follow-ups, whereas HDLc and triglyceride concentrations significantly improved vs. baseline from 6 months, reaching at 12 months the highest HDLc levels (29.6%, p < 0.001) and the lowest circulating triglycerides (-30%, p < 0.001). Although HDL's anti-inflammatory ability worsens after surgery, the HDL-mediated CEC linearly increased after surgery (for both p trend < 0.013). Conclusion: BS improves the lipid profile both quantitatively and qualitatively after 1 year, specifically enhancing HDL-mediated cholesterol efflux capacity, which may contribute to a reduced cardiovascular risk in individuals with severe obesity
Billions of people exposed to increasing heat but decreasing greenness from 2000 to 2022
No full textRising heat stress due to climate warming poses a significant threat to human health, and greenness offers a nature-based solution to mitigate heat-related health impacts and enhance resilience. Although global greenness has increased, it remains unclear whether these trends align with the population's heat mitigation needs. In this study, we integrated spatially resolved demographic data with satellite-derived greenness metric and reanalysis-based heat stress data to construct a global profile of joint exposure at 1 × 1 km resolution from 2000 to 2022. We found that 69.3% of global populated areas and 41.3% of the global population (∼2.9 billion people) were exposed to increasing heat stress but decreasing greenness (IHDG), representing the most concerning situation for heat mitigation. Urban populations were disproportionately affected, with 50.8% exposed compared to 27.1% in rural areas. Low- and middle-income countries exhibited more pronounced trends of increasing heat stress and bore the greatest burden from IHDG, accounting for 85% of total exposed populations. Moreover, there was a notable demographic shift in IHDG-exposed populations toward older groups, exacerbating the heat mitigation crisis. This study advances the understanding of the joint dynamics of heat stress and greenness and provides a profile of population exposure at a fine grid level. By highlighting the scale of IHDG conditions, our findings emphasize the urgent need to address this environmental challenge and a significant opportunity for improving greenness to mitigate increasing heat globally. The spatially detailed assessment maps offer essential data for informed decision-making
EU foreign policy and the fragmentation of the international order: a framework for analysis
No full textThe liberal international order (LIO) is fragmenting—there is pushback against liberal universalism, spheres of influence are back, and the shortening of value chains is explicitly planned for. By itself an integration-through-law project born within the logic of the LIO, the EU has recorded such changes in its foreign policy. This chapter sketches a research agenda over the ways in which the fragmentation of the LIO has impacted (the politics of) EU foreign policy. How have intra-EU debates registered this process? What are the strategies deployed by the EU in the face of the changing and fragmenting landscape of global governance? We propose interrogating this plurality of responses by identifying three broad approaches to EU foreign policy (nationalism, Atlanticism and Europeanism), and then differentiate between two different reactions to a fragmenting liberal international order, depending on whether one prefers to embrace fragmentation, or rather rejects to act according to its logic