Scientia, Dipòsit d’Informació Digital del Departament de Salut
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Prediction of left ventricular thrombus after myocardial infarction: a cardiac magnetic resonance-based prospective registry
Get PDFCardiac magnetic resonance; Left ventricular thrombus; ST-segment elevation myocardial infarctionResonancia magnética cardiaca; Trombo ventricular izquierdo; Infarto agudo de miocardio con elevación del segmento STRessonància magnètica cardíaca; Trombe ventricular esquerre; Infart de miocardi amb elevació del segment STBackground
Left ventricular thrombus (LVTh) is a severe complication after ST-segment elevation myocardial infarction (STEMI).
Objectives
We aim to predict LVTh occurrence by cardiac magnetic resonance (CMR) using clinical, echocardiographic, and electrocardiographic (ECG) variables readily available at admission.
Methods
We included 590 reperfused STEMI patients who underwent early (1-week) and/or late (6-month) CMR in our institution. Baseline clinical, echocardiographic (left ventricular ejection fraction -LVEF-) and ECG data (summatory of ST-segment elevation -sum-STE- and Q-wave and residual ST-elevation >1 mm -Q-STE-) during admission were registered. Multivariate binary logistic regression models and receiver operating characteristic curves were computed for LVTh prediction.
Results
LVTh was detected by CMR in 43 (7.3 %) patients and was predicted by previous chronic coronary syndrome (CCS, HR 4.74 [1.82–12.35], p = 0.001), anterior STEMI (HR 10.93 [2.47–48.31], p = 0.002), LVEF (HR 0.96 [0.93–0.99] per %, p = 0.008), maximum sum-STE (HR 1.04 [1.01–1.07] per mm, p = 0.04), and Q-STE (HR 1.31 [1.08–1.6] per lead, p = 0.008). High-risk patients with both major (anterior STEMI and Q-STE in ≥1 leads) and 1–3 minor (CCS, maximum sum-STE >10 mm, LVEF <50%) factors showed the highest LVTh risk (19.6 % within 6 months). The model showed excellent discrimination ability (area under the curve=0.85 [0.81–0.9], p < 0.001). Simplified 4-variable (excluding sum-STE) and 3-variable (also excluding CCS) risk scores showed similar discrimination ability and were externally validated.
Conclusions
LVTh within 6 months post-STEMI can be predicted using pre-discharge clinical (anterior infarction and CCS), echocardiographic (LVEF), and ECG (sum-STE and Q-STE) data. Our results can help select patients who should undergo CMR after STEMI for LVTh detection.This work was supported by Instituto de Salud Carlos III, Fondos Europeos de Desarrollo Regional FEDER and Fondo Social Europeo Plus (FSE+) (grant numbers PI20/00637, PI23/01150, CIBERCV16/11/00486, CIBERCV16/11/00420, CIBERCV16/11/00479, CIBERCV16/11/00292 and postgraduate contracts CM21/00175, CM23/00246 and CM23/00238) and by Conselleria de Innovación, Universidades, Ciencia y Sociedad Digital of the Generalitat Valenciana (PROMETEO/2021/008). Dr. Marcos-Garcés acknowledges funding from the Instituto de Salud Carlos III and co-funding from Fondo Social Europeo Plus (FSE+) (grant JR23/00032), as well as a GE 2023 grant from the Conselleria de Innovación, Universidades, Ciencia y Sociedad Digital of the Generalitat Valenciana (CIGE/2022/26). Dr. Gavara has received financial support from the Agencia Estatal de Investigación (grant FJC2020–043981-I/AEI/10.13039/501100011033). Dr. Moratal has received financial support from the Conselleria d'Educació, Investigació, Cultura i Esport, Generalitat Valenciana (grants AEST/2019/037 and AEST/2020/029)
Representativitat dels Pacients a les organitzacions sanitàries
Get PDFExperiència de pacient (EXP); Qualitat; AvaluacióExperiencia de paciente (EXP); Calidad; EvaluaciónPatient Experience (EXP); Quality; EvaluationLa construcció del marc d’experiència de pacient té com a objectiu
involucrar professionals, institucions i usuaris dels serveis de salut, i fer-los
partícips i coprotagonistes del seu desenvolupament.The construction of the patient experience framework has as its objective
involve professionals, institutions and users of health services, and make them
participants and co-protagonists of its development.La construcción del marco de experiencia de paciente tiene como objetivo
involucrar a profesionales, instituciones y usuarios de los servicios de salud, y hacerlos partícipes y coprotagonistas de su desarrollo
Sex-Differences in Alpha-1 Antitrypsin Deficiency: Data From the EARCO Registry
Get PDFAlpha1-antitrypsin deficiency; Chronic obstructive pulmonary disease; GenderDeficiència d'alfa1-antitripsina; Malaltia pulmonar obstructiva crònica; GènereDeficiencia de alfa1-antitripsina; Enfermedad pulmonar obstructiva crónica; GéneroBackground
Sex and gender influence many aspects of chronic obstructive pulmonary disease (COPD). Limited data are available on this topic in alpha-1 antitrypsin deficiency (AATD). We therefore aimed to investigate sex issues in the EARCO registry, a prospective, international, observational cohort study.
Methods
Baseline data from PiZZ individuals, enrolled in the registry with complete data on sex and smoking history were analysed by group comparisons and binary logistic regression analyses.
Results
1283 patients with AATD, 49.3% women were analysed. Females reported less tobacco consumption (16.8 ± 12.2 vs. 19.6 ± 14.5 PY, p = 0.006), occupational exposures towards gases, dusts or asbestos (p < 0.005 each) and consumed less alcohol (5.5 ± 7.6 vs. 8.4 ± 10.3 u/week, p < 0.001). Females reported COPD (41% vs. 57%, p < 0.001) and liver disease (11% vs. 20%, p < 0.001) less often. However, they had a higher prevalence of bronchiectasis (24% vs. 13%, p < 0.001). Despite better lung function (FEV1%pred. 73.6 ± 29.9 vs. 62.7 ± 29.5, p < 0.001) females reported a similar symptom burden (CAT 13.4 ± 9.5 vs. 12.5 ± 8.9, p = ns) and exacerbation frequency (at least one in the previous year 30% vs. 26%, p = ns) compared to males. In multivariate analyses, female sex was an independent risk factor for exacerbations in the previous year OR 1.6 p = 0.001 in addition to smoking history, COPD, asthma and bronchiectasis and was also identified as risk factors for symptom burden (CAT ≥ 10) OR 1.4 p = 0.014 besides age, BMI, COPD and smoking history.
Conclusion
Men had higher rates of COPD and liver disease, women were more likely to have bronchiectasis. Women's higher symptom burden and exacerbation frequency suggest they may need tailored treatment approaches.The International EARCO Registry is funded by unrestricted grants from Grifols, CSL Behring, Kamada, pH Pharma and Takeda to the European Respiratory Society (ERS). AMT is funded by the NIHR Midlands Patient Safety Research Collaboration (PSRC) and Applied Research Collaborative West Midlands. She has also received grant funding from NIHR HTA and EME. The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care
Prehospital application of remote ischaemic perconditioning in acute ischaemic stroke patients in Catalonia: the REMOTE-CAT clinical trial
Get PDFAcute ischaemic stroke; Neuroprotection; Remote ischaemic preconditioningIctus isquèmic agut; Neuroprotecció; Precondicionament isquèmic remotIctus isquémico agudo; Neuroprotección; Preacondicionamiento isquémico remotoBackground
Acute ischaemic stroke (IS) remains one of the leading causes of morbidity and mortality worldwide. Remote ischaemic perconditioning (RIperC) is a neuroprotective treatment with promising preclinical results, acting through humoral and neural mechanisms. This trial aimed to evaluate the clinical benefits of prehospital-initiated RIperC in acute IS patients.
Methods
REMOTE-CAT was a multicentre, randomised, double-blind, sham-controlled trial across four Catalonian stroke centres. Patients over 18 years with stroke symptoms under 8 h, a pre-stroke modified Rankin Scale (mRS) score <3, and motor deficits (RACE motor score ≥1) were randomised 1:1 to active RIperC or sham. RIperC was applied via an automated cuff on the unaffected arm in five 5-min inflation–deflation cycles. Investigators and participants were blinded to treatment. The primary outcome was the proportion of patients with a favourable outcome (mRS <3) at 90 days. The intention-to-treat analysis included all patients receiving at least one inflation–deflation cycle and had a final diagnosis of ischaemic stroke or transient ischaemic attack (ClinicalTrials.gov: NCT03375762).
Findings
Between August 2019 and December 2023, 350 patients were screened, with 200 randomised. After 78 exclusions (29 haemorrhagic strokes, 41 stroke mimics, and 8 patients with mRS >3), 122 patients were included in the primary analysis (RIperC group, n = 57; sham group, n = 65). The RIperC group had a higher proportion of mRS <3 at 90 days (64.9%) than the sham group (47.3%), though not statistically significant in the unadjusted analysis (OR 2.03 [95% CI 0.98–4.21], p = 0.057 However, statistical significance was achieved in the post-hoc analysis adjusted for age, baseline status (determined by pre-stroke mRS score), and initial stroke severity (measured by baseline RACE score by paramedics) (OR 2.94 [95% CI 1.21–7.16], p = 0.017). No serious adverse events were observed.
Interpretation
Despite the small sample size, our findings suggest that prehospital application of RIPerC is safe and may confer clinical benefit, as indicated in the post hoc adjusted analysis. However, larger, adequately powered trials are required to validate these results, and to determine potential differential effects across underrepresented patient subgroups.This study was supported by the Government of Catalonia-Agència de Gestió d'Ajuts Universitaris i de Recerca, Spain (FP: 2017 SGR 1628 and 2021 SGR 1479), Institute of Health Carlos III, Spain and co-funded by European Union (ERDF/ESF, “Investing in your future”) (FP: Project PI17-01725) and the RICORS-ICTUS Research Network (Institute of Health Carlos III, Spain). We thank all the patients and their families who participated in the study. We also extend our gratitude to the paramedical staff who contributed to the study and play a pivotal role in the care of individuals with suspected stroke in the prehospital setting in Catalonia, Spain
Harnessing transcriptional regulation of alternative end-joining to predict cancer treatment
Get PDFTranscriptional regulation; Cancer treatmentRegulación transcripcional; Tratamiento del cáncerRegulació transcripcional; Tractament del càncerAlternative end-joining (alt-EJ) is an error-prone DNA repair pathway that cancer cells deficient in homologous recombination rely on, making them vulnerable to synthetic lethality via inhibition of poly(ADP-ribose) polymerase (PARP). Targeting alt-EJ effector DNA polymerase theta (POLθ), which synergizes with PARP inhibitors and can overcome resistance, is of significant preclinical and clinical interest. However, the transcriptional regulation of alt-EJ and its interactions with processes driving cancer progression remain poorly understood. Here, we show that alt-EJ is suppressed by hypoxia while positively associated with MYC (myelocytomatosis oncogene) transcriptional activity. Hypoxia reduces PARP1 and POLQ expression, decreases MYC binding at their promoters, and lowers PARylation and alt-EJ-mediated DNA repair in cancer cells. Tumors with HIF1A mutations overexpress the alt-EJ gene signature. Inhibition of hypoxia-inducible factor 1α or HIF1A expression depletion, combined with PARP or POLθ inhibition, synergistically reduces the colony-forming capacity of cancer cells. Deep learning reveals the anticorrelation between alt-EJ and hypoxia across regions in tumor images, and the predictions for these and MYC activity achieve area under the curve values between 0.70 and 0.86. These findings further highlight the critical role of hypoxia in modulating DNA repair and present a strategy for predicting and improving outcomes centered on targeting alt-EJ.This study was funded by the “GINKGO Apac del Berguedà” patient association; the Instituto de Salud Carlos III [co-funded by the European Regional Development Fund (ERDF), “A way to build Europe”] grants PI21/0136 and PI24/01327 to M.A.P., and PI19/00342 and PI23/00513 to A.A.; the Asociación Española Contra el Cáncer (AECC) grant LABAE21170 to A.A.; the Department of Defense PC210340 PCRP-IDA grant to A.A.; the Ministerio de Ciencia, Innovación y Universidades, Agencia Estatal de Investigación [co-funded by the European Regional Development Fund (ERDF), “A way to build Europe”] grants PID2020-117815RB-I00 and PID2023-150836OB-100 to F.V., and CNS2023-145615 to A.A.; and the Generalitat de Catalunya, Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR) grants SGR 2017-449 and 2021-00184 to F.V. and M.A.P., and 2021-00895 to A.A. R.E. and M.A.P.-C. were supported by contracts from the Departament de Salut, Generalitat de Catalunya, PERIS-PFI SLT017-20-000076 and PERIS-Suport SLT017/20/000072, respectively, and A.S. was supported by Generalitat de Catalunya AGAUR fellowship 2022-FI-B01068. We also acknowledge the support of the Centres de Recerca de Catalunya (CERCA) Program to IDIBELL and IDIBGI. The open-access publication of this article was funded by the Instituto de Salud Carlos III grants PI24/01327 to M.A.P., PI23/00513 to A.A., and PID2023-150836OB-100 to F.V
Brentuximab vedotin compared with historical controls for severe skin involvement in cutaneous systemic sclerosis
Get PDFSevere skin involvement; Cutaneous systemic sclerosisAfectació cutània; Esclerosi sistèmica cutàniaAfectación cutánea; Esclerosis sistémica cutáneaInvestigator-initiated study. Seagen provided partial funding and interpretation of the data. Seagen had courtesy access to the final manuscript, without having influence on the final publication
Mortality in chronic pulmonary aspergillosis: a systematic review and individual patient data meta-analysis
Get PDFMortality; Chronic pulmonary aspergillosisMortalitat; Aspergil·losi pulmonar crònicaMortalidad; Aspergilosis pulmonar crónicaBackground
Despite antifungal treatment, chronic pulmonary aspergillosis (CPA) is associated with substantial morbidity and mortality. We conducted a systematic review and meta-analysis to evaluate rates of mortality and its predictors in CPA.
Methods
A systematic literature search was conducted across MEDLINE (PubMed), Scopus, Embase, and Web of Science to identify studies in English, reporting mortality in CPA, from database inception to Aug 15, 2023. We included clinical studies, observational studies, controlled trials, and abstracts. Case reports, animal studies, letters, news, and literature reviews were excluded. Authors of studies published since 2016 were also contacted to obtain anonymised individual patient data (IPD); for other studies, summary estimates were extracted. Subgroup analysis was done for differences in overall 1-year and 5-year mortality, data source, study design, risk of bias, country, Human Development Index, age groups, and the underlying lung disease. We used random-effects meta-analyses to estimate pooled mortality rates. Subgroup analyses and meta-regression were done to explore sources of heterogeneity. One-stage meta-analysis with a stratified Cox proportional hazards model was used to estimate the univariable and hazards for mortality, adjusting for age, sex, type of CPA, treatment, and underlying pulmonary comorbidities. This study was registered with PROSPERO (CRD42023453447).
Findings
We included 79 studies involving 8778 patients in the overall pooled analysis and 15 studies involving 1859 patients in the IPD meta-analysis. Pooled mortality (from 70 studies) was estimated at 27% overall (95% CI 22–32; I2 =95·4%), 15% at 1 year (11–19; I2 =91·6%), and 32% at 5 years (25–39; I2 =94·3%). Overall mortality in patients with CPA with pulmonary tuberculosis as the predominant predisposing condition was 25% (16–35; I2 =87·5%; 20 studies) and with chronic obstructive pulmonary disease was 35% (22–49; I2 =89·7%; 14 studies). Mortality in cohorts of patients who underwent surgical resection was low at 3% (2–4). In the multivariable analysis, among predisposing respiratory conditions, pulmonary tuberculosis history had the lowest mortality hazard (relative to an absence of the disease at baseline), whereas worse outcomes were seen with underlying malignancy; subacute invasive pulmonary aspergillosis and chronic cavitary pulmonary aspergillosis subtypes of CPA were also significantly associated with increased mortality relative to simple aspergilloma on multivariable analysis. Mortality hazard increased by 25% with each decade of age (adjusted hazard ratio 1·25 [95% CI 1·14–1·36], p<0·0001).
Interpretation
CPA is associated with substantial mortality. Advancing age, CPA subtype, and underlying comorbidities are important predictors of mortality. Future studies should focus on identifying appropriate treatment strategies tailored to different risk groups
Testing and Iterative Improvement of the CEN ISO/TS 82304-2 Health App Quality Assessment: Pilot Interrater Reliability Study
Get PDFHealth apps; Assessment framework; Digital healthAplicaciones de salud; Marco de evaluación; Salud digitalAplicacions de salut; Marc d'avaluació; Salut digitalWith the increasing use of health apps and ongoing concerns regarding their safety, effectiveness, and data privacy, numerous health app quality assessment frameworks have emerged. However, assessment initiatives experience difficulties scaling, and there is currently no comprehensive, consistent, internationally recognized assessment framework. Therefore, health apps often need to undergo several quality evaluations to enter different markets, leading to duplication of work. The CEN ISO/TS 82304‑2 health app assessment seeks to address this issue, aiming to provide an internationally accepted quality evaluation through a network of assessment organizations located in different countries.
This study aimed to develop and evolve the draft CEN ISO/TS 82304-2 assessment handbook and developer guidance by testing them across organizations in several countries.
Assessment organizations from 5 countries were engaged to evaluate 24 health apps using the evolving CEN ISO/TS 82304-2 assessment across 3 evaluation rounds. The information submitted by a given health app developer was evaluated by 2 assessment organizations, and interrater reliability was examined. In addition, app developers and assessors were asked to report how much time they spent on information collation or evaluation and to rate the clarity of the developer guidance or assessor handbook, respectively. The collected data were used to iteratively improve the handbook and guidance between rounds.
The interrater reliability between assessment organizations improved from round 1 to round 2 and stayed relatively stable between rounds 2 and 3, with 80% (55/69) of assessment questions demonstrating moderate or better (Gwet AC1>0.41) agreement in round 3. The median time required by developers to prepare the assessment information was 8 hours and 59 minutes (IQR 5.7-27.1 hours) in round 3, whereas assessors reported a median evaluation time of 8 hours and 46 minutes (IQR 7.1-11.0 hours). The draft guidance and handbook were generally perceived as clear, with a median round-3 clarity rating of 1.73 (IQR 1.64-1.90) for developers and 1.78 (IQR 1.71-1.89) for assessors (0="very unclear", 1="somewhat unclear", and 2="completely clear").
To our knowledge, this is the first study to examine the consistency of health app evaluations across organizations located in different countries. Given that the CEN ISO/TS 82304-2 guidance and handbook are still under development, the interrater reliability findings observed at this early stage are promising, and this study provided valuable information for further refinement of the assessment. This study marks an important first step toward establishing the CEN ISO/TS 82304-2 assessment as a consistent, cross-national health app evaluation. It is envisioned that the assessment will ultimately help avoid duplication of work, prevent inequities by facilitating access to smaller markets for developers, and build trust among users, thereby increasing the adoption of high-quality health apps.This work was supported by the Ministerio de Sanidad y Consumo and Instituto de Salud Carlos III through grant PI15/0625 (awarded to DM and EC), co-funded by the FEDER program “Una manera de hacer Europa.” Additional support was provided by Laboratorios Rubió S.A. through an unrestricted grant (LIPOCATV1FEB2018) for 1H-NMR characterization
Pla d’enquestes de percepció, experiència i satisfacció d’usuaris del Servei Català de la Salut (PLAENSA): teràpies respiratòries
No full textTeràpies respiratòries a domicili; Oxigenoteràpia; Enquestes de satisfaccióTerapias respiratorias a domicilio; Oxigenoterapia; Encuestas de satisfacciónRespiratory therapies at home; Oxygen therapy; Satisfaction surveysLa segona edició de l’estudi de percepció, experiència i satisfacció amb el servei de teràpies respiratòries, 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 (CatSalut), ha mostrat que les persones que han utilitzat aquest servei durant l’any 2024 valoren la satisfacció amb l’atenció rebuda amb un 8,23 sobre 10 de mitjana. A més, de les persones entrevistades, un 82,5 % ha respost que “Sí” a la pregunta: “Si poguéssiu triar, continuaríeu triant aquesta empresa a domicili?”. Els tres ítems més ben valorats pels usuaris l’any 2024 són “P2. S’entenien les explicacions del metge o metgessa” (96,8%), “P1. Vau entendre els motius pels quals havíeu de portar la màquina” (96,4%) i “P10. Tracte personal de l’empresa quan truca” (95,2%).
Aquest estudi compta amb 3.591 casos, procedents del registre de facturació del servei. En l’edició de l’any 2024, s’ha utilitzat un qüestionari validat durant l’any 2023, i que s'ha tornat a validar després de l'edició d'enguany. El treball de camp s’ha dut a terme durant el quart trimestre de l’any 2024, utilitzant un qüestionari web amb invitació per SMS
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
Get PDFMutació; Fragilitat cromosòmica; Anèmia de FanconiMutación; Fragilidad cromosómica; Anemia de FanconiMutation; Chromosome fragility; Fanconi anemiaFanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better understand the natural history of FA, identify genetic risk and prognostic factors, and develop novel therapeutic strategies, the Spanish Registry of Patients with FA collects data on clinical features, chromosome fragility, genetic subtypes, and DNA sequencing with informed consent of participating individuals. In this article, we describe the clinical evolution of 227 patients followed up for up to 30 years, for whom our data indicate a cumulative cancer incidence of 86% by age 50. We found that patients with lower chromosome fragility had a milder malformation spectrum and better outcomes in terms of later-onset hematologic impairment, less severe bone marrow failure, and lower cancer risk. We also found that outcomes were better for patients with mutations leading to mutant FANCA protein expression (genetic hypomorphism) than for patients lacking this protein. Likewise, prognosis was consistently better for patients with biallelic mutations in FANCD2 (mainly hypomorphic mutations) than for patients with biallelic mutations in FANCA and FANCG, with the lack of the mutant protein in patients with biallelic mutations in FANCG contributing to their poorer outcomes. Our results regarding the clinical impact of chromosome fragility and genetic hypomorphism suggest that mutant FA proteins retain residual activity. This finding should encourage the development of novel therapeutic strategies aimed at partially or fully enhancing mutant FA function, thereby preventing or delaying bone marrow failure and cancer in patients with FA.
Clinical Trial Registration number: NCT06490510.This study has been funded by Ministerio de Ciencia e Innovación through the project “The Fanconi anemia/BRCA pathway: Genomic medicine and advanced therapies” (FABRAT, PID2021-122411OB-I00/AEI/10.13039/501100011033/FEDER, UE); the Instituto de Salud Carlos III (ISCIII) and fondos Next Generation EU: Plan de Recuperación, trasformación y resiliencia de la UE through the project “Reposicionamiento de afatinib para HNSCC en pacientes con anemia de Fanconi” (ICI22/00076); the ICREA-Academia program, Fundació Institut Català de Recerca i Estudis Avançats 2018; SGR-Cat 2021 (AGAUR) through the project “Genomic medicine and rare diseases group” (2021-SGR-00835, 2023–2025). CIBERER is an initiative of the Instituto de Salud Carlos III, Spai