Scientia, Dipòsit d’Informació Digital del Departament de Salut
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Observatori per a Situacions de Violència en l’Àmbit Sanitari de Catalunya (OSVASC) [cartell]
Full text linkSituacions de Violència; Atenció Sanitària; Professionals de la salutSituations of Violence; Health Care; Health professionalsSituaciones de Violencia; Atención Sanitaria; Profesionales de la saludAquesta infografia presenta l'OSVASC que té l'objectiu: que el sistema de salut a Catalunya disposi d’entorns segurs i respectuosos per a tots els professionals, que promocioni la cultura de la tolerància zero a la violència en tots els agents del sistema.Esta infografía presenta la OSVASC que tiene el objetivo: que el sistema de salud en Cataluña disponga de entornos seguros y respetuosos para todos los profesionales, que promocione la cultura de la tolerancia cero a la violencia en todos los agentes del sistema.This infographic presents the OSVASC that aims to ensure that the health system in Catalonia has safe and respectful environments for all professionals, and that it promotes a culture of zero tolerance for violence in all agents of the system
Pla d'enquestes de percepció, experiència i satisfacció d'usuaris del Servei Català de la Salut (PLAENSA): atenció hospitalària urgent
No full textAtenció urgent hospitalària; Enquestes de satisfaccióAtención urgente hospitalaria; Encuestas de satisfacciónHospital emergency care; Satisfaction surveysLa desena edició de l’estudi de percepció, experiència i satisfacció amb el servei d’atenció hospitalària urgent, dut a terme per la Unitat d’Avaluació i Experiència del Pacient en el marc del Pla d’enquestes de percepció, experiència i satisfacció dels usuaris del Servei Català de la Salut, ha mostrat que les persones que han utilitzat aquest servei durant l’any 2025 valoren la satisfacció amb l’atenció rebuda amb un 7,31 sobre 10 de mitjana. A més a més, de les persones que s’han entrevistat, un 74,2 % ha respost que “Sí” a la pregunta: “Si poguéssiu triar, continuaríeu venint a aquest centre?”. Les preguntes amb una major freqüència de respostes positives es troben dins dels àmbits de tracte i informació del servei: la “P16. Tracte personal dels zeladors i zeladores”, amb un 94,2 % de respostes positives; la “P24. Explicació del perquè de l’ingrés”, amb un 91,3 % i finalment la “P14. Tracte personal infermers/infermeres”, amb un 90,6 %. Aquest estudi compta amb 4.240 casos, procedents del registre d’activitat dels centres proveïdors. Durant aquesta edició de l’any 2025, s’ha utilitzat un qüestionari validat durant l’any 2024, que s’ha tornat a validar després de l’edició d’enguany. El treball de camp s’ha dut a terme entre el 19 i el 22 de maig de l’any 2025, utilitzant un qüestionari web amb invitació per SMS
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly
Full text linkEmbryonic stem cells; Genetic diseases; NeurodevelopmentCèl·lules mare embrionàries; Malalties genètiques; NeurodesenvolupamentCélulas madre embrionarias; Enfermedades genéticas; NeurodesarrolloThe spliceosome is a critical cellular machinery responsible for pre-mRNA splicing that is essential for the proper expression of genes. Mutations in its core components are increasingly linked to neurodevelopmental disorders, such as primary microcephaly. Here, we investigated the role of SNW domain–containing protein 1 (SNW1), a spliceosomal protein, in splicing integrity and neurodevelopment. We identified 9 heterozygous mutations in the SNW1 gene in patients presenting with primary microcephaly. These mutations impaired SNW1’s interactions with core spliceosomal proteins, leading to defective RNA splicing and reduced protein functionality. Using Drosophila melanogaster and human embryonic stem cell–derived cerebral organoids models, we demonstrated that SNW1 depletion resulted in significant reductions in neural stem cell proliferation and increased apoptosis. RNA-Seq revealed disrupted alternative splicing, especially skipping exons, and altered expression of neurodevelopment-associated genes (CENPE, MEF2C, and NRXN2). Our findings provide crucial insights into the molecular mechanisms by which SNW1 dysfunction contributes to neurodevelopmental disorders and underscore the importance of proper spliceosome function in brain development.We extend our sincere appreciation to the authors and laboratories who made this work possible. We are thankful to the patients and their families for their participation in this research project. We thank the Chigene (Beijing), Gene4Denovo, GeneMatcher, and China Epilepsy Gene V.1.0 and their contributors for providing these valuable public datasets. This project is supported by the National Key Research and Development Program (2024YFC2707002, 2020YFA0112500, and 2021YFA1100400), Innovation Program of Shanghai Municipal Education Commission (2023ZKZD16), the National Natural Science Foundation of China (82071262, 32300464, and 32271019), the Natural Science Foundation of Shanghai (20ZR1427200, 20511101900, 21ZR1433000, and 22ZR1462600), the Shanghai Municipal Science and Technology Major Project (20JC1418600), the Shanghai Leading Academic Discipline Project (B205), the China Postdoctoral Science Foundation (2023M732266), the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province (2019SK1010 and 2019SK1014), the Natural Science Foundation of Hunan Province (2022JJ40206), the Ruixin project of Hunan Provincial Maternal and Child Health Care Hospital (2023RX01), the Key Technology Breakthrough Program of Ningbo Sci-Tech Innovation YONGJIANG 2035 (2024Z221), the Municipal Public Welfare Project (2022S035), the Jiangxi Provincial Department of Science and Technology (20203BBGL73132), Shanghai Jiao Tong University STAR Grants (YG2023ZD26 and YG2023LC14), and National Science Foundation Graduate Research Fellowship Program (2139322). XM wishes to extend deepest appreciation to Tan Guanhao and Li Zhongju for their unwavering support and invaluable encouragement throughout this research journey
Management of paediatric ulcerative colitis, part 1: Ambulatory care—An updated evidence-based consensus guideline from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition and the European Crohn's and Colitis Organisation
Full text linkPaediatric ulcerative colitis; Inflammatory bowel disease‐unclassifiedColitis ulcerosa pediàtrica; Malaltia inflamatòria intestinal no classificadaColitis ulcerosa pediátrica; Enfermedad inflamatoria intestinal no clasificadaObjectives
Despite advances in the management of ambulatory paediatric ulcerative colitis (UC), challenges remain as many patients are refractory to therapy and some require colectomy. The aim of these guidelines is to provide an update on optimal care for UC through detailed recommendations and practice points.
Methods
These guidelines are an update to those published in 2018 and are a joint effort of the Paediatric IBD Porto group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition and the European Crohn's and Colitis Organisation. An extensive literature search with subsequent evidence appraisal using the Oxford methodology was performed, followed by three online voting sessions and a consensus face-to-face meeting. Thirty-nine recommendations and 77 practice points were endorsed by the 25 experts with at least an 84% consensus rate.
Results
Robust evidence-based recommendations and detailed practice points are provided. In addition to reemphasising and updating the role of more ‘traditional’ UC therapies, these guidelines outline optimising the use of antitumour necrosis factor therapies and integrating newer biologics and small molecules, as well as supportive therapy, to improve outcomes and provide an updated management algorithm. Measurement and monitoring tools and decision aids are provided, and additional aspects, including nutritional support, extraintestinal manifestations, pouchitis, inflammatory bowel disease-unclassified and patient support, are discussed. Some aspects, including surgery and thromboprophylaxis, are covered in the acute severe UC guidelines.
Conclusions
These guidelines serve as an aid in managing children with UC through a combination of evidence-based recommendations and more practical practice points in the ambulatory setting.ESPGHA
Atezolizumab, bevacizumab, and platinum chemotherapy in cervical cancer: results of Japanese population from BEATcc
Full text linkAngiogenesis Inhibitors; Atezolizumab; BevacizumabInhibidores de la angiogénesis; Atezolizumab; BevacizumabInhibidors de l'angiogènesi; Atezolizumab; BevacizumabObjective: This study analyzed the efficacy of add-on atezolizumab to standard first-line bevacizumab-containing therapy in 56 Japanese patients with metastatic and recurrent cervical cancer treated across 8 sites under the Japanese Gynecologic Oncology Group between October 2018 and August 2021 in the BEATcc trial.
Methods: Patients were randomized to standard arm (standard therapy: cisplatin 50 mg/m² or carboplatin area under the curve of 5, paclitaxel 175 mg/m², and bevacizumab 15 mg/kg) or experimental arm (standard therapy with atezolizumab 1,200 mg).
Results: Of 56 patients, 30 were in experimental arm vs. 26, standard arm (age: 53.2±12.9 vs. 54.7±12.2 years). Median progression-free survival was 15.8 months (95% confidence interval [CI]=10.4-26.1) in experimental arm vs. 11.1 months (8.4-16.5) in standard arm (hazard ratio [HR]=0.51; 95% CI=0.26-1.01). Median overall survival was 34.1 months (23.2-38.6) in the experimental arm vs. 31.6 months (16.4-36.5), standard arm (HR=0.53; 95% CI=0.23-1.21). Objective response rate was 86.7% in experimental arm vs. 84.6%, standard arm. Complete response and partial response, respectively, were 23.3% and 63.3% in experimental arm and 26.9% and 57.7% in standard arm. Grade ≥3 adverse events occurred in 80.0%, experimental arm and 88.5%, standard arm. Gastrointestinal/genitourinary fistula incidence was lower in Japanese patients (1 patient receiving atezolizumab), likely due to stricter inclusion criteria.
Conclusion: Overall, add-on atezolizumab enhances the efficacy of bevacizumab and chemotherapy in Japanese patients as those in overall BEATcc population and could be considered a new first-line treatment option for metastatic, persistent, or recurrent cervical cancer in Japan.
Trial registration: ClinicalTrials.gov Identifier: NCT03556839.The trial was funded by F. Hoffmann-La Roche AG and Chugai Pharmaceutical Co., Ltd
Development of Attention-based Prediction Models for All-cause Mortality, Home Care Need, and Nursing Home Admission in Ageing Adults in Spain Using Longitudinal Electronic Health Record Data
Full text linkAttention mechanism; Electronic health records; Longitudinal dataMecanisme d’atenció; Registres electrònics de salut; Dades longitudinalsMecanismo de atención; Registros electrónicos de salud; Datos longitudinalesPredicting health-related outcomes can help with proactive healthcare planning and resource management. This is especially important on the older population, an age group growing in the coming decades. Considering longitudinal rather than cross-sectional information from primary care electronic health records (EHRs) can contribute to more informed predictions. In this work, we developed prediction models using longitudinal EHRs to inform resource allocation. In this study, we developed deep-learning-based prognostic models to predict 1-year and 5-year all-cause mortality, nursing home admission, and home care need in people over 65 years old using all the longitudinal information from EHRs. The models included attention mechanisms to increase their transparency. EHRs were drawn from SIDIAP (primary care, Catalonia (Spain)) from 2010-2019. Performance on the test set was compared to that from baseline models using cross-sectional one-year history only. Data from 1,456,052 individuals over 65 years old were considered. Cohen's kappa obtained using longitudinal data was 3.4-fold (1-year all-cause mortality), 10.3-fold (5-year all-cause mortality), 1.1-fold (5-year nursing home admission), and 1.2-fold (5-year home care need) higher than that obtained by the one-year history baseline models. Our models performed better than those not considering longitudinal data, especially when predicting further into the future. However, nursing home admission and home care need in the long term were harder to predict, suggesting their dependence on more abrupt changes. The attention maps helped to understand the predictions, enhancing model transparency. These prediction models can contribute to improve resource allocation in the general population of aging adults.The project received a research grant from the Carlos III Institute of Health, Ministry of Economy and Competitiveness (Spain), awarded on the 2019 call under the Health Strategy Action 2013-2016, within the National Research Programme oriented to Societal Challenges, within the Technical, Scientific, and Innovation Research National Plan 2013-2016, (reference PI19/00535), and the PFIS Grant FI20/00040, co-funded with European Union ERDF (European Regional Development Fund) funds. This work has been also partially funded by the grant 2021 SGR 01033 (AGAUR, Generalitat de Catalunya). The funder had no role in the study design, data analysis, or writing of this work
A lncRNA-mediated metabolic rewiring of cell senescence
Full text linkMetabolism; RNA-binding proteins; SenescenceMetabolisme; Proteïnes d'unió a ARN; SenescènciaMetabolismo; Proteínas de unión a ARN; SenescenciaDespite not proliferating, senescent cells remain metabolically active to maintain the senescence program. However, the mechanisms behind this metabolic reprogramming are not well understood. We identify senescence-induced long noncoding RNA (sin-lncRNA), a previously uncharacterized long noncoding RNA (lncRNA), a key player in this response. While strongly activated in senescence by C/EBPβ, sin-lncRNA loss reinforces the senescence program by altering oxidative phosphorylation and rewiring mitochondrial metabolism. By interacting with dihydrolipoamide S-succinyltransferase (DLST), it facilitates its mitochondrial localization. Depletion of sin-lncRNA causes DLST nuclear translocation, leading to transcriptional changes in oxidative phosphorylation (OXPHOS) genes. While not expressed in highly proliferative cancer cells, it is strongly induced upon cisplatin-induced senescence. Depletion of sin-lncRNA in ovarian cancer cells reduces oxygen consumption and increases extracellular acidification, sensitizing cells to cisplatin treatment. Altogether, these results indicate that sin-lncRNA is specifically induced in senescence to maintain metabolic homeostasis, unveiling an RNA-dependent metabolic rewiring specific to senescent cells.We thank Eva Santamaría for her input and help with the Seahorse experiments. We thank Beatriz Tavira (CIMA, Universidad de Navarra) for providing the COD362 cells. We thank Sebastiaan Martijn Van Liempd and Juan Manuel Falcón (Metabolomic Platform, CIC bioGUNE) and Lorea Válcarcel (UPV) and Arkaitz Carracerdo (CIC bioGUNE) for their input on the metabolic experiments. We thank Lukas Bethlehem for helping interpreting the metabolomic data. We thank Victor Segura and Eli Guruceaga for the guilt-by-association analysis. We thank Jesus Gil (MRC, London) for his input. We acknowledge the ENCODE project and The Cancer Genome Atlas database for their valuable datasets. We thank the rest of the Huarte lab for contributing with helpful discussions. The work was supported by Project PID2023-147980NB-100 financed by MICIU/AEI/10.13039/501100011033 and FEDER, UE , 'La Caixa' Foundation (LCF/PR/HR21/00176), Worldwide Cancer Research grant 25-0335, and Ayuda Proyectos Generales AECC 2024. M.M. was funded by an MSCA fellowship (HORIZON-MSCA- 2021-PF-01: 101066499) and currently by Ministerio de Ciencia e Innovación through Programa Ramón y Cajal (RYC2022-036819-I) . L.P.-C. is supported by Instituto de Salud Carlos III (Ministerio de Ciencia e Innovación) through a Miguel Servet contract (CP22/00005), co-funded by the European Union
Positive cerebrospinal fluid in the 2024 McDonald criteria for multiple sclerosis
Full text linkCerebrospinal fluid; Criteria; DiagnosisLíquido cefalorraquídeo; Criterios; DiagnósticoLíquid cefaloraquidi; Criteris; DiagnòsticThe 2024 McDonald diagnostic criteria for Multiple Sclerosis (MS) introduce kappa free light chains (κ-FLC) detection in cerebrospinal fluid (CSF) which can be used interchangeably with oligoclonal IgG bands (OCB) to demonstrate intrathecal immunoglobulin synthesis. Diagnostic sensitivity and specificity of κ-FLC is equal to OCB on a 95% confidence level. In rare cases determination of both, κ-FLC and OCB should be considered as the concordance rate is around 90%. We recommend calculating the κ-FLC index with values of ≥6.1 performing best for diagnosing MS. Validated turbidimetric or nephelometric assays should be applied for which proficiency testing programs are available. There is some prognostic use of the κ-FLC index with higher values predicting higher disease activity. Neurofilament light (NfL) should not be used for diagnostic purposes although it might be useful for prognosis and disease monitoring. All recommendations apply to paediatric and adult relapsing as well as progressive onset MS
The Psychological Benefits of Forest Bathing in Individuals with Fibromyalgia and Chronic Fatigue Syndrome/Myalgic Encephalomyelitis: A Pilot Study
Full text linkChronic fatigue syndrome; Fibromyalgia; Forest therapySíndrome de fatiga crònica; Fibromiàlgia; Teràpia forestalSíndrome de fatiga crónica; Fibromialgia; Terapia forestalBackground/Objectives: The main objective of the present study is to assess the short-term effects of Forest Bathing (FB) conducted in a Mediterranean forest on individuals with fibromyalgia (FM) and/or chronic fatigue syndrome/myalgia encephalomyelitis (CFS/ME) on perceived pain, fatigue, state anxiety, positive and negative affect, mood states, and state mindfulness. Methods: A total of 44 participants with FM and/or CSF/ME agreed to participate in this study. The FB session consisted of a 3 km silent walk, lasting three hours and guided by a specialized psychologist and a mountain guide to guarantee the safety of the activity. Paired-sample t-tests were used to analyze the pre–post changes in perceived pain, fatigue, state anxiety, positive and negative affect, mood states, and mindfulness. Results: All reported variables but self-reported pain showed statistically significant pre–post variations after the FB session. Particularly, large-to-very-large improvements in positive and negative affect, state anxiety, tension, depression, anger, and vigor were found. Small-to-moderate effect sizes for fatigue, friendliness, and state mindfulness were also reported. Conclusions: This study provides preliminary evidence of the short-term benefits of FB in individuals with FM and/or CFS/ME, especially on state anxiety and negative affect.The project was funded in part by the Spanish Ministry for Science and Innovation (MCIN) State R + D + I Program Oriented to the Challenges of Society (Ref. PID 2020-117667RA-I00) and co-financed by European Union ERDF funds. We are grateful to the CIBER of Epidemiology and Public Health (CIBERESP CB22/02/00052; ISCIII) for its support
Servei Català de la Salut: memòria 2024
No full textSistema sanitari públic; Activitat assistencial; MemòriaSistema sanitario público; Actividad asistencial; MemoriaPublic health system; Healthcare activity; MemoryLa memòria del Servei Català de la Salut, a banda d’oferir les dades dels recursos de què disposa el sistema sanitari públic i de l’activitat assistencial al llarg de l’any, ofereix un recull de les principals actuacions dutes a terme en el marc dels diversos objectius estratègics plantejats al període fixat. N’hi ha d’altres, però aquestes són les que, pel seu estat de desplegament, estan més a prop de transformar la realitat i impactar i millorar la vida quotidiana de la ciutadania.The report of Catalan Health Service, apart from offering data on the resources available to the public health system and healthcare activity throughout the year, offers a summary of the main actions carried out within the framework of the various strategic objectives set out in the fixed period. There are others, but these are those that, due to their state of development, are closer to transforming reality and impacting and improving the daily life of citizens.La memoria del Servei Català de la Salut, además de ofrecer los datos de los recursos de que dispone el sistema sanitario público y de la actividad asistencial a lo largo del año, ofrece una recopilación de las principales actuaciones llevadas a cabo en el marco de los diversos objetivos estratégicos planteados en el período fijado. Hay otros, pero estas son las que, por su estado de desarrollo, están más cerca de transformar la realidad e impactar y mejorar la vida cotidiana de la ciudadanía