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Cost benefit of implementation of risk stratification models for adult spinal deformity surgery
No full textStudy Design/Setting: Retrospective cohort study.
Objective: Assess the extent to which defined risk factors of adverse events are drivers of cost-utility in spinal deformity (ASD) surgery.
Methods: ASD patients with 2-year (2Y) data were included. Tertiles were used to define high degrees of frailty, sagittal deformity, blood loss, and surgical time. Cost was calculated using the Pearl Diver registry and cost-utility at 2Y was compared between cohorts based on the number of risk factors present. Statistically significant differences in cost-utility by number of baseline risk factors were determined using ANOVA, followed by a generalized linear model, adjusting for clinical site and surgeon, to assess the effects of increasing risk score on overall cost-utility.
Results: By 2 years, 31% experienced a major complication and 23% underwent reoperation. Patients with ≤2 risk factors had significantly less major complications. Patients with 2 risk factors improved the most from baseline to 2Y in ODI. Average cost increased by 122,650 per risk factor (R2 = .794). Adjusted generalized linear model demonstrated a significant trend between increasing risk score and increasing cost-utility (r2 = .408, P < .001).
Conclusions: The number of defined patient-specific and surgical risk factors, especially those with greater than two, were associated with increased index surgical costs and diminished cost-utility. Efforts to optimize patient physiology and minimize surgical risk would likely reduce healthcare expenditures and improve the overall cost-utility profile for ASD interventions.
Level of evidence: II
Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders
No full textIncreasing evidence supports the role of the placenta in neurodevelopment and in the onset of neuropsychiatric disorders. Recently, mQTL and iQTL maps have proven useful in understanding relationships between SNPs and GWAS that are not captured by eQTL. In this context, we propose that part of the genetic predisposition to complex neuropsychiatric disorders acts through placental DNA methylation. We construct a public placental cis-mQTL database including 214,830 CpG sites calculated in 368 fetal placenta DNA samples from the INMA project, and run cell type-, gestational age- and sex-imQTL models. We combine these data with summary statistics of GWAS on ten neuropsychiatric disorders using summary-based Mendelian randomization and colocalization. We also evaluate the influence of identified DNA methylation sites on placental gene expression in the RICHS cohort. We find that placental cis-mQTLs are enriched in placenta-specific active chromatin regions, and establish that part of the genetic burden for schizophrenia, bipolar disorder, and major depressive disorder confers risk through placental DNA methylation. The potential causality of several of the observed associations is reinforced by secondary association signals identified in conditional analyses, the involvement of cell type-imQTLs, and the correlation of identified DNA methylation sites with the expression levels of relevant genes in the placenta.We would like to acknowledge all the INMA and RICHS participants and researchers, for their kind collaboration and support. INMA-Gipuzkoa is funded by grants from Instituto de Salud Carlos III (PI06/0867 and PI09/00090, incl. FEDER funds), Department of Health of the Basque Government (2005111093), Provincial Government of Gipuzkoa (DFG06/002), and annual agreements with the municipalities of the study area (Zumarraga, Urretxu, Legazpi, Azkoitia, Azpeitia and Beasain). INMA-Sabadell was funded by grants from Instituto de Salud Carlos III (Red INMA G03/176, PS09/00432, PI17/01225, PI17/01935, and CP18/00018), Fundació La Marató de TV3 (090430), and Generalitat de Catalunya-CIRIT (1999SGR 00241), the European Community’s Seventh Framework Program (FP7/2007-206) under grant agreement no 308333 (HELIX project), and from the European Joint Programming Initiative “A Healthy Diet for a Healthy Life” (JPI HDHL and Instituto de Salud Carlos III) under the grant agreement no AC18/00006 (NutriPROGRAM project). ISGlobal acknowledges support from the Spanish Ministry of Science and Innovation and the State Research Agency through the “Centro de Excelencia Severo Ochoa 2019-2023” Program (CEX2018-000806-S), and support from the Generalitat de Catalunya through the CERCA Program. INMA-Valencia is funded by Grants from UE (FP7-ENV-2011 cod 282957, HEALTH.2010.2.4.5-1, and H2020 No 874583, the ATHLETE project), the Ministry of Universities (CAS21/00008, Margarita Salas Grant MS21-133 and NextGeneration EU), Instituto de Salud Carlos III (FIS-FEDER: 13/1944, 16/1288, 17/00663, and 19/1338; FIS-FSE: 17/00260; Miguel Servet-FSE: MSII20/0006), CIBERESP, Generalitat Valenciana (BEST/2020/059, AICO/2020/285 and CIAICO/2021/132). The RICHS cohort is supported by the US National Institute of Environmental Health Sciences (U24 ES02507). M.C.-T. is funded by a Beatriu de Pinós Postdoctoral Contract awarded by Generalitat de Catalunya-AGAUR and European Commission- Horizon 2020 (2019 BP 00107). I.G.-S. is funded by the Basque Department of Health (SAN2020111043) and the Spanish Ministry of Equity (12-4-ID22) and the UPV/EHU Collaborative Projects (COLAB22/01). A.H.-L. is a predoctoral fellow supported by grant PRE-C-2020-0091 from the MCIN/AEI/10.13039/501100011033 and by ESF Investing in your future. B.P.G.-G. is supported by the Mexican National Council for Science and Technology grant 2021-000007-01EXTF-00209. M.F.F. is funded by the EU Commission (QLK4-1999-01422, QLK4-2002-00603, and CONTAMED FP7-ENV-212502) and the Consejería de Salud de la Junta de Andalucía (Grant number 0675/10). J.R.B. is funded by Research Grant PID2019-106382RB-I00 funded by MCIN/AEI/10.13039/501100011033. N.F.-J. is funded by research grants 2019/111085 from the Basque Department of Health, and PI21/01491 from the Instituto de Salud Carlos III (ISCIII), co-funded by the European Union
Exposure to residential air pollution and the development of functional connectivity of brain networks throughout adolescence
No full textBackground: A few studies linked air pollution to differences in functional connectivity of resting-state brain networks in children, but how air pollution exposure affects the development of brain networks remains poorly understood. Therefore, we studied the association of air pollution exposure from birth to 3 years and one year before the first imaging assessment with the development of functional connectivity across adolescence. Methods: We utilized data from 3,626 children of the Generation R Study (The Netherlands). We estimated residential exposure to PM10, PM2.5, PM2.5 absorbance, NOX, and NO2 with land-use regression models. Between- and within-network functional connectivity was calculated for 13 cortical networks, and the amygdala, hippocampus, and caudate nucleus at two assessments (8.6-12.0 and 12.6-17.1 years), resulting in 4,628 scans (2,511 for assessment 1 and 2,117 for assessment 2) from 3,626 individuals. We investigated the association between air pollution and functional connectivity with linear mixed models adjusted for life-style and socioeconomic variables, and corrected for multiple testing. Results: Higher exposure to PM2.5 from birth to 3 years was associated with persistently lower functional connectivity over time between the amygdala and the ventral attention, somatomotor hand, and auditory networks throughout adolescence (e.g. -0.027 functional connectivity [95 % CI -0.040; -0.013] amygdala - ventral attention network per 5 μg/m3higher PM2.5). Higher exposure to PM10 one year before the first imaging assessment was associated with persistently lower functional connectivity between the salience and medial-parietal networks throughout adolescence. Air pollution was not associated with a faster or slower change in functional connectivity with age. Conclusions: Air pollution exposure early in life was associated with persistent alterations in connectivity between the amygdala and cortical networks involved in attention, somatomotor, and auditory function. Concurrent exposure was associated with persistent connectivity alterations between networks related to higher cognitive functions (i.e. the salience and medial-parietal networks).This publication was co-financed by the Agencia Estatal de Investigación (AEI) and the European Social Fund (FSE) “ EL FSE invierte en tu futuro” with reference number PRE2020-092005, according to the Resolution of the Presidency of the AEI, by which grants are awarded for pre-doctoral contracts for the training of doctors, call 2020 (awarded to M.S.W.K). Neuroimaging data collection and analysis were supported by the Sophia Foundation project S18-20 (awarded to R.L.M.), the Netherlands Organization for Scientific Research (NWO, 2012.042, exacte wetenschap, Surf/Snellius, awarded to R.L.M) and the Netherlands Organization for Health Research and Development (ZonMw) Vici project 016.VICI.170.200 (awarded to H.T.). H.T. and R.L.M. were supported by the The European Union’s HorizonEurope Research and Innovation Programme (FAMILY, grant agreement No 101057529). M.G. was funded by a Miguel Servet II fellowship (CPII18/00018) and L.G was funded by a Rio Hortega fellowship (CM22/00011), both awarded from the Spanish Institute of Health Carlos III. The general design of Generation R Study is made possible by financial support from the Erasmus Medical Center, Rotterdam, the Erasmus University Rotterdam, ZonMw, The Netherlands Organization for Scientific Research (NWO), and the Ministry of Health, Welfare, and Sport. The geocodification of the addresses of the study participants and the air pollution estimations were done within the framework of a project funded by the Health Effects Institute (HEI) (Assistance Award No. R-82811201). We acknowledge support from the grant CEX2023-0001290-S funded by MCIN/AEI/ 10.13039/501100011033, support from the Generalitat de Catalunya through the CERCA Program, and from the Ministry of Research and Universities of the Government of Catalonia (2021 SGR 01564). Data for generating figures were provided [in part] by the Human Connectome Project, WU-Minn Consortium (Principal Investigators: David Van Essen and Kamil Ugurbil; 1U54MH091657) funded by the 16 NIH Institutes and Centers that support the NIH Blueprint for Neuroscience Research; and by the McDonnell Center for Systems Neuroscience at Washington University
Catalunya a finals del segle XVIII a partir de les respostes als qüestionaris de Francisco de Zamora
No full textA finals del segle XVIII, el viatger i funcionari borbònic Francisco de Zamora va fer arribar als pobles i llogarets catalans uns interrogatoris formats per 146 o 183 preguntes (segons el cas) referides, pràcticament, a tots els àmbits: qüestions polítiques, administratives, naturals, econòmiques, socials, culturals... Aquesta tesi doctoral és un estudi que extreu la informació de totes les respostes que s’han localitzat a dia d’avui –estiguin o no publicades– i n'analitza el contingut. S’ha realitzat des d’una mirada global al conjunt del territori català, però aportant informacions precises i concretes d’àmbit local per tal de contribuir a configurar la història social i econòmica de la Catalunya del 1790.A finales del siglo XVIII, el viajero y funcionario borbónico Francisco de Zamora envió a los pueblos y aldeas de Cataluña unos interrogatorios formados por 146 o 183 preguntas (según el caso) concernientes, prácticamente, a todos los ámbitos: cuestiones políticas, administrativas, naturales, económicas, sociales, culturales... Esta tesis doctoral es un estudio que extrae la información de todas las respuestas que se han localizado a día de hoy –estén o no publicadas– y analiza el contenido de las mismas. Se ha realizado desde una perspectiva global del conjunto del territorio catalán, pero con la aportación de informaciones precisas y concretas de ámbito local para contribuir a configurar la historia social y económica de la Cataluña de 1790.At the end of 18th century, Francisco de Zamora (traveller and bureaucrat of the Bourbon administration) sent out questionnaires to the towns and villages of Catalonia, consisting of 146 or 183 questions (depending on the case) concerning practically all areas and issues: political, administrative, natural, economic, social, cultural... This doctoral thesis extracts information from all the answers that have been found up to date –published or not– and analyses their content. It has been carried out from a global perspective of the whole of Catalan territory, but giving precise and specific information from the local areas in order to contribute to build up the social and economic history of Catalonia in 1790.Programa de Doctorat en Històri
Genome-wide association study of long COVID
No full textInfections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4's role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID
Redefinint Roxy : pla estratègic per inventar una marca oblidada
No full textTutora: Maria Montserrat Lavilla Raso
Treball de fi de grau en Publicitat i Relacions PúbliquesAquest Treball de Final de Grau presenta una proposta estratègica per revitalitzar la marca Roxy i reconnectar amb un públic femení que ha evolucionat. A través d'una anàlisi interna i externa, s'identifiquen les causes de la pèrdua de rellevància de la marca i es defineixen nous pilars de posicionament, enfocats en la sostenibilitat, l’empoderament femení i la connexió emocional. El projecte inclou el desenvolupament d’una col·lecció càpsula, un pla de comunicació omnicanal, col·laboracions amb influencers i la creació d’un esdeveniment experiencial anomenat “Casa Club Roxy”. L’objectiu principal és transformar Roxy en una marca significativa per a les noves generacions, mantenint la seva essència però adaptant-se als valors actuals del mercat.This Final Degree Thesis presents a strategic proposal to revitalize the Roxy brand and reconnect with a female audience that has evolved over time. Through internal and external analysis, the causes behind the brand’s loss of relevance are identified, and new positioning pillars are defined, focused on sustainability, female empowerment, and emotional connection. The project includes the development of a capsule collection, an omnichannel communication plan, collaborations with influencers, and the creation of an experiential event called “Casa Club Roxy.” The main objective is to transform Roxy into a meaningful brand for new generations, preserving its essence while adapting to current market values
Transcriptional heterogeneity shapes stress-adaptive responses in yeast
No full textIn response to stress, cells activate signaling pathways that coordinate broad changes in gene expression to enhance cell survival. Remarkably, complex variations in gene expression occur even in isogenic populations and in response to similar signaling inputs. However, the molecular mechanisms underlying this variability and their influence on adaptive cell fate decisions are not fully understood. Here, we use scRNA-seq to longitudinally assess transcriptional dynamics during osmoadaptation in yeast. Our findings reveal highly heterogeneous expression of the osmoresponsive program, which organizes into combinatorial patterns that generate distinct cellular programs. The induction of these programs is favored by global transcriptome repression upon stress. Cells displaying basal expression of the osmoresponsive program are hyper-responsive and resistant to stress. Through a transcription-focused analysis of more than 300 RNA-barcoded deletion mutants, we identify genetic factors that shape the heterogeneity of the osmostress-induced transcriptome, define regulators of stress-related subpopulations and find a link between transcriptional heterogeneity and increased cell fitness. Our findings provide a regulatory map of the complex transcriptional phenotypes underlying osmoadaptation in yeast and highlight the importance of transcriptional heterogeneity in generating distinct adaptive strategies.This work was funded by: PID2021-124723NB-C21/C22 funded by MICIU/AEI /10.13039/501100011033 and ERDF/EU to F.P. and E.dN. Funding from the Ministry of Science, Innovation and Universities through the Centres of Excellence Severo Ochoa Award, and from the CERCA Programme of the Government of Catalonia and the Unidad de Excelencia María de Maeztu, funded by the AEI (CEX2018-000792-M). The Ramon y Cajal Program (Spanish Ministry of Science, RYC2021-033520-I) and La Caixa Junior (LCF/BQ/PR20/11770001) awarded to M.N.R. F.P. and E.deN. are recipients of an ICREA Acadèmia award (Government of Catalonia). The La Caixa Retaining PhD (LCF/BQ/DR21/11880014) to M.Q. S.A. was funded with EMBO Scientific Exchange Grant Number 9387. Work in the Pelet lab was supported by the University of Lausanne and the Swiss National Science Foundation (Grant # 31003A 182431)
Fricciones volumétricas: conversaciones entre estéticas 3D, arte contemporáneo y teorías queer
No full textEl objetivo de esta tesis es analizar las estéticas contemporáneas 3D desde el prisma de las teorías y epistemologías queer, principalmente en el ámbito de las prácticas artísticas. Para ello, introduce el concepto de las fricciones volumétricas, entendidas como aquellas prácticas 3D contra-hegemónicas en las que emergen discursos transformadores—con el foco en los discursos transformadores de género. Metodológicamente, la tesis se inscribe en la tradición de los métodos críticos, con predilección por las herramientas teóricas y el análisis cualitativo. Propone la “bolsa de transporte” como metodología original, una de sus principales contribuciones. La bolsa de transporte guía el análisis en seis principales áreas de interés, que estructuran la tesis y sus resultados: el realismo, la ciencia ficción, el tiempo, el espacio, el cuerpo y la identidad. Concluye sistematizando las conversaciones entre teorías queer, arte contemporáneo y 3D, ofreciendo un punto de partida para posteriores proyectos de investigación o curadoría.The goal of this thesis is to examine contemporary 3D aesthetics through the lens of queer theories and epistemologies, particularly within the realm of artistic practices. To achieve this, it introduces the concept of “volumetric frictions,” referring to counter-hegemonic 3D practices where transformative discourses emerge, with a specific emphasis on gender-transformative discourses. Methodologically, the thesis aligns itself with critical methods, favoring theoretical frameworks and qualitative analysis. It presents the “carrier bag” as an innovative methodology, which stands as one of its primary contributions. The carrier bag framework facilitates the analysis across six key areas of interest, shaping the thesis and its findings: realism, science fiction, time, space, the body, and identity. It concludes organizing the discourse between queer theories, contemporary art, and 3D, providing a foundation for future research endeavors or curatorial projects.Programa de Doctorat en Comunicaci
Complex portal 2025: predicted human complexes and enhanced visualisation tools for the comparison of orthologous and paralogous complexes
No full textThe Complex Portal (www.ebi.ac.uk/complexportal) is a manually curated reference database for molecular complexes. It is a unifying web resource linking aggregated data on composition, topology and the function of macromolecular complexes from 28 species. In addition to significantly extending the number of manually curated complexes, we have massively extended the coverage of the human complexome through the incorporation of high confidence assemblies predicted by machine-learning algorithms trained on large-scale experimental data. The current content of the portal comprising 2150 human complexes has been augmented by 14 964 machine-learning (ML) predicted complexes from hu.MAP3.0. We have refactored the website to enable easy search and filtering of these different classes of protein complexes and have implemented the Complex Navigator, a visualisation tool to facilitate comparison of related complexes in the context of orthology or paralogy. We have embedded the Rhea reaction visualisation tool into the website to enable users to view the catalytic activity of enzyme complexes