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Genomic Insights into the Population Dynamics, Connectivity, and Geographic Origins of Critically Endangered Gorillas
No full textEls goril·les són un grup de grans simis africans format per quatre subespècies, les quals estan en perill o perill crític d’extinció. En aquesta tesi, hem obtingut mostres no invasives de tres de les quatre subespècies al llarg de la seva distribució actual, amb l’objectiu de generar dades genètiques georeferenciades, les quals combinades amb dades públiques representen un total de 33 llocs de mostreig diferents. Hem aplicat un protocol d’hibridació per tal de capturar el cromosoma 21 de 280 mostres fecals i de pèls de goril·les de poblacions salvatges. A més, també hem seqüenciat el genoma complet d’onze mostres de museu de les dues espècies de goril·les, i dotze mostres de sang obtingudes mitjançant targetes de FTA de mostres de goril·les de les planes occidentals rescatats. A partir d’aquestes mostres hem pogut caracteritzar l’estructura poblacional a petia escala en els goril·les de les planes occidentals, detectant tres poblacions principals i el riu Sangha com a barrera entre el flux genètic entre aquestes. També hem reconstruït patrons de connectivitat passats entre poblacions específiques dels goril·les de les planes occidentals i els goril·les de Cross River, els quals haurien estat facilitats per un corredor migratori també utilitzat per les dues subespècies de ximpanzés de la mateixa zona (Pan troglodytes troglodytes i Pan troglodytes ellioti). Utilitzant aquestes dades genètiques georeferenciades hem pogut predir els orígens geogràfics de dades de goril·les públiques nascuts en estat salvatge i de goril·les que han estat rescatats. Aquesta geolocalització s’ha pogut dur a terme a nivell poblacional en el cas dels goril·les de muntanya i per a algunes poblacions dels goril·les de les planes occidentals.Gorillas are a group of African great apes comprising two species and four subspecies, all of which are currently classified as critically endangered or endangered. Here, we non-invasively sampled three of the four gorilla subspecies across large parts of their present-day distributions to generate georeferenced genetic data, which, when combined with previous datasets, represents 33 different sampling sites. We applied a target-capture hybridisation protocol to capture chromosome 21 of wild gorilla faecal and hair samples for a total of 280 individuals. We also sequenced whole genomes of 11 eastern and western gorilla museum specimens and 12 rescued western lowland gorillas using FTA cards. We characterised fine-scale population structure in wild western lowland gorillas, detecting three population clusters and a significant role of the Sangha River as a barrier to gene flow. We also reconstructed patterns of past population connectivity between specific populations of western lowland gorillas and Cross River gorillas, which may have been facilitated by a migration corridor also used by the Central and Nigeria-Cameroon chimpanzee subspecies. With this extensive georeferenced genetic dataset, we predicted the geographic origins of previously published wild-born gorillas and geolocalised rescued gorillas, with a population-level resolution for mountain gorillas and some populations of western lowland gorillas.Universitat Pompeu Fabra. Doctorat en Biomedicin
Computed tomography-guided cryoablation in treating adrenal metastases: a retrospective single-center study
No full textPurpose: To assess the effectiveness and safety of computed tomography (CT)-guided cryoablation for treating adrenal metastases (AMs). Methods: This study included 12 patients treated with 13 CT-guided cryoablation procedures for AMs between 2016 and 2020. Patients were selected based on specific criteria, including tumor size ≤5 cm and suitability for surgery. Procedures were performed by expert radiologists, with comprehensive monitoring for complications and regular post-treatment evaluations. Results: The primary technical success rate was 91.7%, with a secondary success rate of 100% following repeat procedures. Over an 8-24-month follow-up period, local tumor recurrence was observed in 16.7% of patients, and systemic progression occurred in five (41.6%) patients. The average overall survival duration was 26.4 ± 5.6 months. Conclusion: CT-guided cryoablation is a feasible and effective treatment option for AMs, demonstrating high technical success rates and manageable complications. Clinical significance: This study highlights CT-guided cryoablation as a promising treatment for AMs, offering a minimally invasive alternative to surgery with good local control and safety profile. Further research, including multi-center studies, is needed to confirm these findings
Evolving values, lagging practice: integrating ethics in ICT engineering
No full textThis exploratory qualitative study evaluates the effectiveness of standard, collaborative
curriculum review processes - which presume expertise - for integrating social
dimensions into modern ICT engineering curricula. Driven by demands to enhance
curriculum relevance and foster richer professional identities for graduates, the study
investigates faculty members' expertise in these societal dimensions. Using qualitative
methods informed by research on expert-novice differences, our findings suggest that
merely having the disposition to address these areas may be insufficient, highlighting
potential limitations when collective expertise isn't fully developed.Este estudio cualitativo exploratorio evalúa la efectividad de los procesos estándar de
revisión curricular colaborativa —que presuponen experiencia— para integrar
dimensiones sociales en los currículos modernos de ingeniería TIC. Impulsado por la
necesidad de mejorar la relevancia curricular y fomentar identidades profesionales más
ricas para los graduados, el estudio investiga la experiencia del profesorado en estas
dimensiones sociales. Usando métodos cualitativos basados en la investigación sobre
diferencias experto-novato, nuestros hallazgos sugieren que la mera disposición a
abordar estas áreas podría ser insuficiente, destacando limitaciones potenciales cuando
la experiencia colectiva no está completamente desarrollada.This work was supported by PID2020-112584RB-C33, PID2023-146692OB-C33, CEX2021-001195-M funded by MICIU/AEI/10.13039/501100011033, UPF-PlaCLIK and SGR 00930. DHL (Serra Húnter) also acknowledges the support by ICREA Academi
Prevalence of chronic hand eczema in adults: a cross-sectional survey of over 60 000 respondents from the general population of Canada, France, Germany, Italy, Spain and the UK
No full textBackground: The lack of attention paid to chronic hand eczema (CHE) and the lack of a specific International Classification of Diseases code for it may have limited assessment of its prevalence. To date, prevalence estimates have primarily been derived from (partly small) single-country studies. Objectives: To estimate the annual prevalence of self-reported physician-diagnosed CHE across sociodemographic characteristics in adults living in Canada, France, Germany, Italy, Spain and the UK. Methods: In the observational Chronic Hand Eczema epidemiology, Care, and Knowledge of real-life burden (CHECK) study, a questionnaire was administered to adults aged 18-69 years in the general population, recruited through online panels. Quotas and minor weighting adjustments were performed to ensure that the participants were representative of the general population with regard to sex, age, region, employment status, urban/rural setting and - in the UK only - ethnicity. Additional weights were applied to account for population size differences when aggregating country results. Information on self-reported physician-diagnosed CHE was collected. CHE was defined, in accordance with the European Society of Contact Dermatitis, as having had hand eczema continuously for ≥ 3 months or at least two flares in the past 12 months. The annual prevalence of CHE was determined for each country, and by subgroups of sex, age, employment and urban/rural setting. Results: Of 60 131 participants, 2847 self-reported physician-diagnosed CHE, yielding an annual prevalence of 4.7% [95% confidence interval (CI) 4.6-4.9]. Subgroup analyses revealed that the prevalence of CHE was significantly higher in women than in men [5.6% (95% CI 5.4-5.9) vs. 3.8% (95% CI 3.6-4.1); P < 0.001], in employed vs. unemployed people [5.3% (95% CI 5.1-5.6) vs. 3.3% (95% CI 3.1-3.6); P < 0.001] and in urban vs. rural residents [5.0% (95% CI 4.8-5.2) vs. 3.7% (95% CI 3.4-4.1); P < 0.001). Prevalence was highest in those aged 30-39 years (6.5%, 95% CI 6.0-7.0) and lowest in those aged 60-69 years (2.6%, 95% CI 2.3-3.0). Conclusions: This large multinational study is the first to assess the prevalence of CHE in Europe and Canada using a consistent definition across a broad geographical population. This study reveals that CHE is a common skin disease with annual prevalence of 4.7%, with a higher prevalence in women, people aged 30-39, employed people and those living in urban areas
Chinese women intellectuals, in/visibility, and translation
No full textThis chapter addresses the comparative invisibility of contemporary Chinese women intellectuals in translation flows, focusing on the fields of the humanities and social sciences (HSS). It begins by characterizing the position of Chinese women intellectuals in their own original context and in the translation and circulation of Chinese HSS. I will show that Chinese women intellectuals have occupied a marginal position in the intellectual and academic field of mainland China in comparison to their male counterparts, which is reflected in their lesser visibility in translation. Despite this situation, we find some exceptional cases of women intellectuals whose work has been translated and circulated in other languages. I will address what factors and in what conditions the work of contemporary Chinese women intellectuals have been translated into English in recent decades
Partitive-en in Catalan is not a test for unaccusativity. Experimental evidence and theoretical consequences.
No full textAquesta tesi investiga el clític partitiu en en català i la seva fiabilitat com a diagnòstic d’inacusativitat. Tot i que la cliticització partitiva s’ha associat tradicionalment a una sintaxi inacusativa (Burzio, 1986; Belletti &amp; Rizzi, 1981), les dades de tres conjunts d’experiments qüestionen aquesta proposta. Un primer conjunt d’experiments que combina judicis d’acceptabilitat i tasques d’omplir buits demostra que en pot aparèixer tant amb verbs inacusatius com amb verbs inergatius i, per tant, posa en dubte el seu paper com a diagnòstic. Un segon experiment examina l’efecte d’un locatiu a l’oració i revela que, contràriament al que s’ha afirmat (Torrego, 1989; Todolí, 2002), aquest no afavoreix la presència del partitiu, sinó que hi competeix. Un tercer experiment mostra que el clític partitiu és compatible amb arguments de qualsevol nivell d’animacitat, cosa que qüestiona la suposada restricció del partitiu a arguments de baixa animacitat. En suma, aquests resultats empírics indiquen que la cliticització partitiva en català depèn d’un conjunt de factors més ampli: pot ser legitimitat com a argument de verbs intransitius si hi ha un SN quantificat o indefinit en posició postverbal amb el qual és correferent i si no hi ha la possibilitat d’interpretar el verb com a transitiu amb un objecte directe també expressable mitjançant el clític partitiu. Els resultats posen en relleu la necessitat d’una recerca sintàctica amb base experimental i conviden a repensar el poder explicatiu de la Hipòtesi de la Inacusativitat.Esta tesis investiga el clítico partitivo en en catalán y su fiabilidad como diagnóstico de inacusatividad. Aunque la cliticización de ne se ha asociado tradicionalmente con la sintaxis inacusativa (Burzio, 1986; Belletti &amp; Rizzi, 1981), los datos de tres conjuntos de experimentos en catalán cuestionan esta visión. Un primer conjunto de experimentos, que combina juicios de aceptabilidad y tareas de completar huecos, demuestra que en puede aparecer tanto con verbos inacusativos como con inergativos, lo que socava su papel como diagnóstico. Un segundo experimento examina el efecto de un elemento locativo y revela que, contrariamente a lo afirmado en estudios previos (Torrego, 1989; Todolí, 2002), este no promueve la cliticización partitva, sino que compite con ella. Un tercer experimento muestra que el partitivo es compatible con argumentos de todos los niveles de animacidad, lo que cuestiona la supuesta restricción del partitivo a argumentos de baja animacidad. En conjunto, estos hallazgos empíricos sugieren que la cliticización partitva en catalán está determinada por diversos factores: puede ser licenciada como argumento de verbos intransitivos cuando existe un SN cuantificado o indefinido claramente accesible en posición posverbal con el que co-referencia, y siempre que no haya competencia con otro constituyente cliticizable que pueda ocupar una posición similar. Los resultados destacan la necesidad de una investigación sintáctica basada en datos experimentales y llaman a replantear el poder explicativo de la inacusatividad.This thesis investigates the partitive clitic en in Catalan and its reliability as a diagnostic of unaccusativity. While ne-cliticization has traditionally been associated with unaccusative syntax (Burzio, 1986; Belleti &amp; Rizzi, 1981), evidence from three sets of experiments in Catalan challenge this view. A first set of experiments combining acceptability judgements and fill-in-the-blanks tasks prove that en can appear with both unaccusative and unergative verbs, undermining its role as a diagnostic. A second experiment examines the effect of a locative and reveals that, contrary to previous claims (Torrego, 1989; Todolí, 2002), it does not promote partitive cliticization but competes with it. A third experiment shows that the partitive is compatible with arguments of all animacy levels, challenging the alleged restriction of the partitive to low animacy arguments. Together, these empirical findings suggest that partitive cliticization in Catalan is shaped by a variety of factors: it can be licensed as the argument of intransitive verbs when there is a clearly accessible quantified or indefinite NP in postverbal position that it co-refers with and if there is no competition with another cliticizable constituent that can occupy a similar position. The results highlight the need for experimentally grounded syntactic research and call for rethinking the explanatory power of unaccusativity.Universitat Pompeu Fabra. Doctorat en Traducció i Ciències del Llenguatg
Proteomic analysis of non-muscle invasive and muscle invasive bladder cancer highlights distinct subgroups with metabolic, matrisomal, and immune hallmarks and emphasizes importance of the stromal compartment
No full textWe present the proteomic profiling of 79 bladder cancers, including treatment-naïve non-muscle-invasive bladder cancer (NMIBC, n = 17), muscle-invasive bladder cancer (MIBC, n = 51), and neoadjuvant-treated MIBC (n = 11). Proteins were extracted from formalin-fixed, paraffin-embedded samples and analyzed using data-independent acquisition, yielding >8,000 quantified proteins. MIBC, compared to NMIBC, shows an extracellular matrix (ECM) and immune response signature as well as alteration of the metabolic proteome together with concomitant depletion of proteins involved in cell-cell adhesion and lipid metabolism. Neoadjuvant treatment did not consistently impact the proteome of the residual tumor mass. NMIBC presents two proteomic subgroups that correlate with histological grade and feature signatures of cell adhesion or lipid/DNA metabolism. Treatment-naïve MIBC presents three proteomic subgroups with resemblance to the basal-squamous, stroma-rich, or luminal subtypes and signatures of metabolism, immune functionality, or ECM. The metabolic subgroup presents an immune-depleted microenvironment, whereas the ECM and immune subgroups are enriched for markers of M2-like tumor-associated macrophages and dendritic cells. Markers for natural killer cells are exclusive for the ECM subgroup, and markers for cytotoxic T cells are a hallmark of the immune subgroup. Endogenous proteolysis is increased in MIBC alongside upregulation of matrix metalloproteases, including MMP-14. Genomic panel sequencing yielded the prototypical profile of prevalent FGRF3 alterations in NMIBC and TP53 alterations in MIBC. Tumor-stroma interactions of MIBC were investigated by proteomic analysis of patient-derived xenografts, highlighting specific tumor and stroma contributions to the matrisome and tumor-induced stromal proteome phenotypes. © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
Vitamin D as an add-on therapy to phosphodiesterase-5 inhibitor in experimental pulmonary arterial hypertension
No full textSevere vitamin D (vitD) deficiency is a very common condition in patients with pulmonary arterial hypertension (PAH), and it is a predictor of poor prognosis. There is emerging evidence suggesting a connection between the insufficient response to phosphodiesterase-5 inhibitors (PDE5i) and vitD deficiency in patients with PAH. In the present translational study, vitD deficiency was induced in Wistar rats by exposure to vitD-free diet for 5 wk and followed by Su5416 administration and hypoxia (10%) for 3 wk, a standard experimental model of PAH. Then, rats were randomized to either 1) the PDE5i tadalafil and continuing vitD-free diet or 2) tadalafil plus a single dose of vitD and standard diet for 4 wk. VitD supplementation improved exercise capacity and right ventricular function and decreased systolic right ventricular pressure, right atrial hypertrophy, right ventricular hypertrophy, and pulmonary arterial remodeling. VitD improved the ex vivo endothelium-dependent response to acetylcholine, indicating an improvement in NO bioavailability, which also resulted in an acute ex vivo response to sildenafil. Thus, the restoration of vitD, by rescuing endothelial function and PDE5i effectiveness, significantly improved the histological, hemodynamic, and functional features of rats with PAH. VitD may be especially beneficial for PDE5i-treated patients with PAH. NEW & NOTEWORTHY Severe vitamin D deficiency is very prevalent in patients with pulmonary arterial hypertension. We show that addition of vitamin D to the standard PDE5 inhibitor tadalafil increases its therapeutic efficacy in pulmonary hypertensive rats that were deficient in vitamin D.This study was supported by grants from Ministerio de Economía y Competitividad (PID2019-107363RB-I00 and PID2020-117939RB-I00), Fundación Contra la Hipertensión Pulmonar (FCHP, Empathy study) and Sociedad Española de Neumología y Cirugía Torácica (SEPAR, 1204/2022). R.A. is funded by the EC Horizon 2020 Marie Skłodowska-Curie grant (No. 847635), and acknowledges Fundação para a Ciência e a Technologia (FCT) under the auspices of the project RELAX-2-PAH (2022.08921.PTDC; https://doi.org/10.54499/2022.08921.PTDC). M.A.O. is funded by Universidad Complutense/Banco Santander CT63/19-CT64/19
In-silico proteomic analysis of the role of IL-4 and IL-10 in IVD degeneration: Protein-protein interaction networks for candidate prioritisation
No full textProtein-protein interaction (PPI) networks provide a static map of functional protein interactions, which when combined with algorithms, can prioritize key protein candidates which experimental studies cannot capture. This study, aimed to construct knowledge-based nucleus pulposus (NP)-specific PPI networks which could be deployed to investigate complex protein interactions in human NP cells and tissues following IL-4 and IL-10 stimulation. NP-specific PPI networks were developed based on mass spectrometry (MS) and secretome datasets from human NP cells. These networks were validated using in vitro and ex vivo experimental data sets. Genes Underlying Inheritance Linked Disorders (GUILD) genome-wide network-based prioritization framework was employed for protein candidate prediction under no treatment baseline and IL-4, IL-10 and IL-1β single or combined stimulating scenarios. These secretome-based in vitro PPI networks were able to reproduce the no-treatment candidate prioritization baseline. Whereby within NP cells from discs isolated due to traumatic injury biglycan was identified whilst in degenerate samples decorin was highlighted. Furthermore, experimentally observed IL-4 pleiotropic behaviour was predicted by IL-1 receptor-like 1 prioritization. PPI network-based IL-4 and IL-10 conditions offered novel insights of potential candidates, including collagen IV and fibroblast growth factor intracellular binding protein (FIBP) as key candidates within IL-4 activation pathways, whereas urocortin 3 and neural growth factor were identified following IL-10 stimulation. Additionally, MS based PPI network propagation offered a more extensive, module-based structure networks with lower edge degree and biological variability. Overall, multiple proteomic experimental approaches are required to successfully validate in-silico prediction models to understand the complex interactions between the plethora of proteins involved in IVD degeneration.We thank the Marie Skłodowska Curie International Training Network (ITN) “disc4all” https://disc4all.upf.edu/, accessed on 9 April 2025) grant agreement #955735 (https://cordis.europa.eu/project/id/955735, accessed on 9 April 2025) for financial support
Looking back and abroad while (not) moving forward. Migration, ideas and the stability of citizenship in Spain
No full textThis article addresses the remarkable stability of the Spanish citizenship regime. Since it was established in 1982, it has remained largely unchanged, despite the country's rapid transformation from a country of emigration to a major destination for non-EU immigrants. We complement existing explanations for this phenomenon by shifting the analytical focus to the realm of ideas. Based on a close analysis of the law-making process and parliamentary debates about citizenship reforms between 1978 and 2024, we argue that this puzzling stability can partly be attributed to the widely shared and remarkably stable way in which the country's political elite conceives nationality. We identify three constitutive elements that make this dominant citizenship frame: (i) the preference for blood-ties over territorial presence, (ii) the preferential treatment of emigrants (and their descendants) over immigrants, and (iii) the predilection for potential citizens' historical over contemporary connections to Spain. This set of ideas, in which political parties' views overlap, has constituted the tracks along which the country's nationality laws have evolved. It has outlived not only demographic but also political changes including the appearance of the country's first far-right, anti-immigrant party. By focusing on ideas, this article offers a new analytical and less deterministic perspective, complementing the explanatory backdrop provided to date by the scholarship concerned with citizenship law-making. Our findings and analysis contribute to a fuller understanding of the politics of citizenship in Spain and—more generally—of the ambiguous role that past, present, and future migratory dynamics (can) play in shaping—the evolution of citizenship law-making. It thereby also contributes to the literature on the multifaceted nexus between citizenship and migration and to broader debates on the importance of ideas in public policymaking.The author(s) declare that financial support was received for the research and/or publication of this article. This publication is part of the project PID2023-152117NA-I00, financed by the Spanish Ministry of Science and Innovation, MCIN/AEI/10.13039/501100011033/FEDER, EU