Scientia, Dipòsit d’Informació Digital del Departament de Salut
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Plan de actuación 2025 para la integración de la atención a las personas frágiles, con cronicidad compleja (PCC) o avanzada (MACA)
Atenció integrada social i sanitària; Persones grans; Malalts crònicsAtención integrada social y sanitaria; Personas mayores; Enfermos crónicosIntegrated social and health care; Older people; Chronically illAquest Pla presenta la voluntat de facilitar el procés de transformació del sistema per donar una millor resposta a les persones fràgils, amb cronicitat complexa (PCC) o avançada (MACA). L'objectiu principal és el d'oferir una resposta de qualitat i resolutiva a aquesta població, tot prioritzant la seva atenció en l’entorn comunitari/domiciliari
Higiene hospitalària: neteja i desinfecció de superfícies i productes sanitaris
Higiene hospitalària; Neteja i desinfecció; Medi hospitalariHigiene hospitalaria; Limpieza y desinfección; Medio hospitalarioHospital hygiene; Cleaning and disinfection; Hospital environment:caLes infeccions relacionades amb l’assistència sanitària (IRAS) són un problema transcendental de salut. L’increment de pacients amb elevada susceptibilitat a les infeccions, l’aparició de nous microorganismes resistents als antibiòtics, l’augment de la complexitat de les intervencions realitzades, així com la realització de multitud de procediments invasius, dificulten la reducció i l’eliminació de les IRAS
Body weight reduction in women treated with tirzepatide by reproductive stage: a post hoc analysis from the SURMOUNT program
Body weight reduction; Women; Reproductive stageReducción del peso corporal; Mujeres; Etapa reproductivaReducció del pes corporal; Dones; Etapa reproductivaObjective
Increases in adiposity and adverse changes in adipose distribution commonly occur in women during midlife and with the onset of menopause. This post hoc analysis assessed body weight changes with tirzepatide by reproductive stage.
Methods
Women participants from SURMOUNT-1, -3, and -4 randomized to tirzepatide (15 mg or maximum tolerated dose) or placebo were retrospectively categorized as being in the pre-, peri-, or post-menopause stages. Body weight and waist circumference changes, the proportion of participants achieving body weight-reduction thresholds, and waist to height ratio (WHtR) category shift among those with baseline BMI < 35 kg/m2 were assessed at end of study treatment.
Results
In SURMOUNT-1, significantly greater body weight reductions from baseline were observed with tirzepatide versus placebo in women in the premenopause (26% vs. 2%), perimenopause (23% vs. 3%), and postmenopause stages (23% vs. 3%; p < 0.001). Greater waist circumference reductions were also observed with tirzepatide across the subgroups (22 vs. 4 cm, 20 vs. 5 cm, and 20 vs. 4 cm, respectively; p < 0.001). Across the reproductive stage subgroups, 97% to 98% of participants achieved body weight reductions that were ≥5% with tirzepatide versus 29% to 33% with placebo. Furthermore, 30% to 52% of women among the reproductive stage subgroups who had baseline BMI < 35 kg/m2 reached WHtR ≤ 0.49 (low central adiposity) with tirzepatide. Similar results were observed in SURMOUNT-3 and -4.
Conclusions
In this post hoc analysis, tirzepatide treatment was associated with significant body weight, waist circumference, and WHtR reductions versus placebo in women living with obesity or overweight and without type 2 diabetes, irrespective of reproductive stage.Funding for this post hoc analysis was provided by Eli Lilly and Company
Pla d’atenció a les persones en l’espectre autista
Trastorn de l’espectre autista; Atenció integral; PlanificacióTrastorno del espectro autista; Atención integral; PlanificaciónAutistic spectrum disorder; Comprehensive care; PlanningEl present treball persegueix fer un pas endavant per implementar criteris comuns de detecció precoç, diagnòstic i intervenció de l’autisme en totes les etapes vitals, amb una mirada especial a les dones, i assegurar una atenció de qualitat a aquestes persones, massa sovint oblidades i invisibilitzades per la xarxa pública sanitària.El presente trabajo busca dar un paso adelante para implementar criterios comunes de detección precoz, diagnóstico e intervención del autismo en todas las etapas vitales, con una atención especial a las mujeres, y garantizar una atención de calidad a estas personas, demasiado a menudo olvidadas e invisibilizadas por la red pública sanitaria.This work aims to take a step forward in implementing common criteria for the early detection, diagnosis, and intervention of autism across all life stages, with a special focus on women, and to ensure quality care for these individuals, who are all too often forgotten and rendered invisible by the public healthcare system
The Human Microglia Atlas (HuMicA) unravels changes in disease-associated microglia subsets across neurodegenerative conditions
Microglia; Neurodegenerative diseasesMicroglía; Enfermedades neurodegenerativasMicroglia; Malalties neurodegenerativesDysregulated microglia activation, leading to neuroinflammation, is crucial in neurodegenerative disease development and progression. We constructed an atlas of human brain immune cells by integrating nineteen single-nucleus RNA-seq and single-cell RNA-seq datasets from multiple neurodegenerative conditions, comprising 241 samples from patients with Alzheimer’s disease, autism spectrum disorder, epilepsy, multiple sclerosis, Lewy body diseases, COVID-19, and healthy controls. The integrated Human Microglia Atlas (HuMicA) included 90,716 nuclei/cells and revealed nine populations distributed across all conditions. We identified four subtypes of disease-associated microglia and disease-inflammatory macrophages, recently described in mice, and shown here to be prevalent in human tissue. The high versatility of microglia is evident through changes in subset distribution across various pathologies, suggesting their contribution in shaping pathological phenotypes. A GPNMB-high subpopulation was expanded in AD and MS. In situ hybridization corroborated this increase in AD, opening the question on the relevance of this population in other pathologies.We would like to acknowledge all the authors that contributed for the development of the studies from which the data used in our HuMicA was collected. The importance of public data access must always be reinforced as a paramount tool for the progression of scientific knowledge, allowing for alternative interpretations of the original data and additional discoveries. We thank the CERCA Programme/Generalitat de Catalunya, the Josep Carreras Foundation and ICBAS-UP for institutional support. E.B. is funded by the Spanish Ministry of Science and Innovation (MICINN) [PID2020117212RB-I00; AEI/10.13039/501100011033] and the Catalan Agency for Management of University and Research Grants (AGAUR, 2021 SGR 01213). R.M.-F. was funded by an FCT (Fundação para a Ciência e Tecnologia) fellowship (SFRH/BD/137900/2018). UMIB is funded by FCT Portugal (UIDB/00215/2020 and UIDP/00215/2020), and ITR (LA/P/006/2020). A.L. is funded by Fondo de Investigación Sanitaria-Instituto de Salud Carlos III (Spain)-FEDER (PI21/01603) and MICINN (Ramón y Cajal [RYC2021-032947-I] financed by MCIN/AEI/10.13039/501100011033 and the European Union-NextGenerationEU/PRTR). EM.‘s work in this publication was supported by the Ramón y Cajal fellowship RYC2021-032359-I, funded by the Spanish Ministry of Science, and by the Catalan Agency for Management of University and Research Grants (AGAUR, 2021 SGR 01586). Our acknowledgments also extent to all members of the Epigenetics and Immune Disease Group at the Josep Carreras Leukaemia Research institute, to Prof. Berta Martins da Silva and the Immunogenetics Laboratory of ICBAS-UP, and to Prof. António Martins da Silva, M.D. and Dr. João Chaves from Hospital de Santo António – Centro Hospitalar e Universitário do Porto (HSA-CHUP) for the continuous collaborations and guidance. We also thank for advice Dr. Marta Martinez-Vicente from the Autophagy and Lysosomal Dysfunction Lab, Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute-CIBERNED, 08035 Barcelona. We are indebted to brain donors and families for the generous donation of brain tissue for diagnostic and research purposes to the Vall d’Hebron Neurological Tissue Bank (PR(AG)200/2013). We want to particularly acknowledge the patients and the Biobank Banco de Tejidos CIEN for their collaboration. We are grateful to Marta Valeri and Cristina de Dios from the Microscopy Core Facility at the High Technology Unit (UAT) from VHIR for support in confocal imaging; Teresa Moline from the Pathology Department at Vall d’Hebron University Hospital for assistance in histological processing
The T-Top Technique for Tandem Lesions: A Single-Center Retrospective Study
Endovascular neurosurgery; Internal carotid artery stenosis; Tandem lesionsNeurocirugía endovascular; Estenosis de la arteria carótida interna; Lesiones en tándemNeurocirurgia endovascular; Estenosi de l'artèria caròtide interna; Lesions en tàndemBackground: Tandem Lesions (TLs) or Tandem Occlusions (TOs) are characterized by simultaneous high-grade stenosis or occlusion of the proximal extracranial internal carotid artery and the intracranial terminal internal carotid artery or its branches. These lesions can result in stroke and pose significant challenges to endovascular treatment. This study introduces and evaluates the “T-Top technique” as an innovative approach to address TLs, assessing its safety and technical efficacy. Methods: Data from acute ischemic stroke (AIS) patients treated with the T-Top technique between September 2022 and September 2023 were retrospectively analyzed. The technique involves using the pusher wire of a stent retriever as a microwire to guide a monorail angioplastic balloon to the extracranial carotid stenosis, performing angioplasty simultaneously with stent retriever anchorage. Clinical outcomes, procedural data, and safety were assessed. Results: Successful reperfusion (mTICI > 2b) was achieved in 91% of cases, with a median groin puncture to final recanalization time of 50 min. Favorable clinical outcomes (mRS < 3) were observed in 69% of patients, with a low mortality rate of 6% after 90 days. Conclusions: The T-Top technique offers a rapid and reliable strategy for TL treatment, improving reperfusion rates and clinical outcomes. Further studies are warranted to validate its efficacy in larger cohorts. This technique holds promise for enhancing endovascular treatment outcomes in patients with Tandem Lesions
Epidemiología de la enfermedad neumocócica invasiva en Cataluña: informe 2023
Streptococcus pneumoniae; Serotips; Malaltia invasivaStreptococcus pneumoniae; Serotype; Invasive diseaseStreptococcus pneumoniae; Serotipo; Enfermedad invasivaL’objectiu d’aquest informe és descriure l’epidemiologia de l’MPI i l’evolució dels serotips circulants en els diferents grups d’edat, així com la seva presentació clínica durant els anys 2021-2022 dels casos declarats a l’SNMC de l’SGVRESP
Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature
Familial hyperaldosteronism; Plasma aldosterone concentration; Primary aldosteronismHiperaldosteronismo familiar; Concentración plasmática de aldosterona; Aldosteronismo primarioHiperaldosteronisme familiar; Concentració plasmàtica d'aldosterona; Aldosteronisme primariContext
It is estimated that about 5% of the primary aldosteronism (PA) cases are of hereditary origin (familial hyperaldosteronism, FH). To date, 4 forms of FH have been reported. However, in general little is known about the genetic causes that lead to the development of PA.
Objective
This work aimed to determine the rate of genetic testing for FH in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed.
Methods
A retrospective multicenter study of PA in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry).
Results
Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available for only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 17 genetically studied cases were quite heterogeneous. A positive result for FH was found in only one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I, 12 articles reporting 72 patients with FH type II, 14 articles reporting 29 cases of FH type III, and 3 articles reporting 12 patients with FH type IV.
Conclusion
The genetic study of FH is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases.This research was funded by Sociedad Española de Endocrinología y Nutrición (SEEN)
REIMAGINE: A central nervous system basket trial showing safety and efficacy of vafidemstat on aggression in different psychiatric disorders
Aggression; Attention‐deficit/hyperactivity disorder; Borderline personality disorderAgresión; Trastorno por déficit de atención e hiperactividad; Trastorno límite de la personalidadAgressivitat; Trastorn per dèficit d'atenció i hiperactivitat; Trastorn límit de la personalitatAim
Vafidemstat is a brain-penetrant, orally bioavailable, small molecule irreversible inhibitor of the histone lysine-specific demethylase KDM1A (also known as LSD1), which corrects memory deficits and behavior alterations including aggression and social interaction deficits in preclinical models.
Methods
Here, we report the results of REIMAGINE, a phase IIa, single-center, open-label, one-arm basket trial that evaluated the safety and efficacy of vafidemstat on aggression in adult patients with borderline personality disorder (BPD), attention-deficit/hyperactivity disorder (ADHD), and autistic spectrum disorder (ASD). Participants received 1.2 mg/day of vafidemstat for 8 weeks.
Results
Vafidemstat was shown to be safe and well tolerated, and no drug-related clinically significant adverse events were observed. Furthermore, all neuropsychiatric scales assessed showed notable efficacy signals, whether assessing agitation/aggression (Clinical Global Impression for Severity [CGI-S] and Clinical Global Impression for Improvement [CGI-I] and Neuropsychiatric Inventory [NPI] questionnaire for Agitation-Aggression [NPI-AA]), overall patient functioning (total NPI), or disease-specific features (Attention-Deficit/Hyperactivity Disorder Rating Scale [ADHD-RS] and Borderline Personality Disorder Checklist [BPDCL]). Statistically significant improvements were observed in the aggregated data (all participants) and for each of the three disease groups independently. Changes were evident within the first 2 weeks of treatment.
Conclusion
In summary, the REIMAGINE study supports that vafidemstat is safe, well tolerated, and causes a significant and consistent reduction in agitation/aggression and nonaggression features in BPD, ADHD, and ASD. These data support continuing the development of vafidemstat as a new treatment option for these psychiatric disorders.This study was funded by Oryzon Genomics, S.A
Real-life evidence of encorafenib plus binimetinib in patients with unresectable advanced or metastatic BRAFV600-mutant melanoma in Spain: the BECARE (GEM-2002) trial
Immune checkpoint inhibitors; Melanoma; MutationInhibidores de puntos de control inmunitario; Melanoma; MutaciónInhibidors de punts de control immunitari; Melanoma; MutacióPurpose: Combined BRAF/MEK inhibition with encorafenib (E) plus binimetinib (B) has demonstrated efficacy and tolerability in phase III clinical trials, and is the standard of care for advanced/metastatic BRAFV600-mutant melanoma. However, real-life evidence is limited, particularly in patients pre-treated with immune checkpoint inhibitors (ICI).
Patients and methods: BECARE GEM 2002 was a retrospective, non-interventional study aimed at investigating the real-world effectiveness and tolerability of EB in patients with unresectable or metastatic BRAFV600-mutant melanoma conducted at 21 sites in Spain. The primary objective of this study was to characterise the population of patients receiving EB and assess the efficacy and tolerability of EB in real life. The study included patients treated according to standard clinical practice with EB as the 1st line or 2nd line after progression to ICI for an unresectable or metastatic stage. Patients who previously received treatment with BRAF and/or MEK inhibitor, other than as adjuvants, that ended ≥ 6 m before EB were not eligible
Results: From September 2021 to March 2023, 117 patients were included; 89 (76.1%) and 28 (23.9%) patients received EB as 1st line and 2nd line, respectively. The median follow-up was 13.8 months (95% CI: 12.0-17.4). In patients with EB as 1st line treatment, ORR and median PFS were 75% and 12 months (95% CI: 9.4-18.6), respectively. In patients with EB as 2nd line treatment after ICI, ORR and median PFS were 77.8% and 12.5 months (95% CI: 6.6-NA), respectively. In patients with brain metastasis ORR and median PFS were 70.8% and 6.3 months (95% CI: 6.1-10.3). Treatment-related adverse events of grade ≥3 were reported in 17 (14.5%) patients; transaminitis (9.4%) and diarrhoea (2.6%) were the most frequent adverse events.
Conclusion: In this real-world study, EB treatment demonstrated effectiveness and a consistent safety profile in patients with BRAFV600-mutant melanoma treated according to standard clinical practice, including in those with prior ICI treatment and of brain metastasis; therefore, EB is a feasible treatment option for unresectable and metastatic melanoma.
Clinical trial identification: REec: 0004-2021-OBSThe author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was sponsored by the Grupo Español Multidisciplinar Melanoma (GEM) with Industry partner Pierre-Fabre Ibérica. The funder did not have a role in designing or conducting the study