European Journal of Clinical Investigation最新文献

{"title":"Machine learning-based prediction of atrial fibrillation in patients with atrial high-rate episodes.","authors":"Amir Askarinejad, Tommaso Bucci, Niloofar Asgharzadeh, Zahra Amirjam, Enrico Tartaglia, Michele Rossi, Yang Chen, Yalin Zheng, Gregory Y H Lip, Majid Haghjoo","doi":"10.1111/eci.70121","DOIUrl":"https://doi.org/10.1111/eci.70121","url":null,"abstract":"<p><strong>Background: </strong>Given the modest performance of available predictive models in estimating the risk of atrial fibrillation (AF) in patients with atrial high-rate episodes (AHREs) detected by cardiac implantable electronic devices (CIEDs), this study explores the potential use of machine learning (ML) algorithms in this context.</p><p><strong>Purpose: </strong>To assess the ability of ML techniques in identifying patients with AHRE at high risk of AF.</p><p><strong>Methods: </strong>In this prospective study, we enrolled patients without a prior history of AF who experienced at least one AHRE episode detected by CIEDs. ML techniques were applied to predict the 1-year risk of developing new-onset AF based on the following variables: age, BMI, sex, smoking, hypertension, diabetes, coronary artery disease, chronic kidney disease, dyslipidaema, history of stroke or transient ischaemic attack, vascular heart disease, left atrial enlargement (LAE) and congestive heart failure.</p><p><strong>Results: </strong>Study population consists of 100 patients (48% male, mean age 66.0 ± 18.0 years), of whom 24 developed AF (24%) after 1-year follow-up. The CatBoost ML model achieved the highest AUC (.857, 95% CI .671-.999) when compared to other ML models and all clinical risk scores. The top four most influential predictors of AF in the CatBoost model were LAE, hypertension, diabetes and age.</p><p><strong>Conclusions: </strong>ML techniques are robust in predicting AF in patients with AHREs. Further validation in larger, independent cohorts is warranted.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70121"},"PeriodicalIF":3.6,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145063550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"OXPHOS complex deficiency in congenital myopathy: A systematic review.","authors":"Megan J du Preez, Maryke Schoonen, Monray E Williams, Michelle Bisschoff, Francois H van der Westhuizen","doi":"10.1111/eci.70114","DOIUrl":"https://doi.org/10.1111/eci.70114","url":null,"abstract":"<p><strong>Background: </strong>Congenital myopathies are inherited neuromuscular disorders characterized by early-onset muscle weakness and distinct histopathological features. Although mitochondrial involvement in congenital myopathy is well recognized in its pathophysiology, oxidative phosphorylation (OXPHOS) complex dysfunction, which is associated with primary mitochondrial diseases (MD), is not. This systematic review aimed to evaluate the prevalence and characteristics of reported OXPHOS complex dysfunction in genetically confirmed congenital myopathy cases.</p><p><strong>Methods: </strong>A systematic literature search was conducted in PubMed, Scopus and Web of Science. The search strategy was developed according to PRISMA guidelines. Two independent reviewers screened the studies for inclusion. Eligible studies reported genetically confirmed congenital myopathy cases or disease models and included diagnostic OXPHOS complex analyses via enzyme kinetic assays and/or protein/RNA expression.</p><p><strong>Results: </strong>Of 5841 studies screened, 23 publications (2009-2025) met the inclusion criteria, comprising 45 congenital myopathy cases. OXPHOS complex dysfunction was reported in 78% of these cases, including all human cases where OXPHOS enzymology was performed. Nine congenital myopathy-associated genes were involved in the cases, with RYR1 being the most frequent. No definitive genotype-phenotype relationship was established between specific genes and affected complexes.</p><p><strong>Conclusions: </strong>OXPHOS complex dysfunction in congenital myopathy appears to be more prevalent than previously recognized, challenging the traditional view that associates such dysfunction exclusively with MD. This emerging evidence suggests that mitochondrial involvement in congenital myopathy is not incidental but may represent a meaningful aspect of its pathophysiology. The potential dysregulation of OXPHOS in congenital myopathy has implications for refining diagnostic frameworks for both congenital myopathy and MD.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70114"},"PeriodicalIF":3.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral anticoagulant therapy for patients with atrial fibrillation on long-term dialysis: A network meta-analysis of 137,574 patients.","authors":"Yao Du, Yuwen Zeng, Sixin Xu, Qiwei Shen, Jinzhu Hu, Gregory Y H Lip","doi":"10.1111/eci.70120","DOIUrl":"https://doi.org/10.1111/eci.70120","url":null,"abstract":"<p><strong>Background: </strong>Patients with atrial fibrillation (AF) with end-stage renal failure on renal replacement therapy are at high risk of stroke and bleeding, but the optimal oral anticoagulation (OAC) strategy is uncertain. To investigate the most effective OAC therapy for patients with AF on long-term dialysis.</p><p><strong>Methods: </strong>PubMed, EMBASE and Web of Science databases were systematically searched from inception to 9 October 2024 to identify relevant studies on OAC strategy for patients with AF on long-term dialysis. The effectiveness outcomes were ischaemic stroke and/or systemic thromboembolism, all-cause mortality and the safety endpoint was major bleeding.</p><p><strong>Results: </strong>The present study encompassed a comprehensive analysis of 33 studies involving a total of 137,574 patients with AF on long-term dialysis. All OACs, including warfarin (hazard ratio [HR], .963; 95% confidence interval [CI], .841-1.104), did not show a statistically significant decrease in the risk of ischaemic stroke and/or systemic thromboembolism compared to no anticoagulant therapy. Only apixaban 5 mg twice daily was associated with a lower risk of all-cause mortality compared to non-OAC use (HR, .671; 95% CI, .490-.919). Dabigatran (HR, 2.140; 95% CI, 1.734-2.642) and phenprocoumon (HR, 2.419; 95% CI, 1.241-4.713) were associated with a significantly higher risk of major bleeding than non-OAC use.</p><p><strong>Conclusions: </strong>All OACs were not associated with a reduced risk of ischaemic stroke and/or systemic thromboembolism in patients with AF on long-term dialysis. Only apixaban 5 mg twice daily was associated with a decrease in all-cause mortality when compared with non-OAC use.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70120"},"PeriodicalIF":3.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145014146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of medical educational background on the diagnostic quality of ChatGPT-4 responses in internal medicine: A pilot study.","authors":"Nicolò Gilardi, Massimo Ballabio, Francesco Ravera, Lorenzo Ferrando, Mario Stabile, Andrea Bellodi, Giovanni Talerico, Benedetta Cigolini, Carlo Genova, Federico Carbone, Fabrizio Montecucco, Christian Bracco, Alberto Ballestrero, Gabriele Zoppoli","doi":"10.1111/eci.70113","DOIUrl":"https://doi.org/10.1111/eci.70113","url":null,"abstract":"<p><p>This pilot study evaluated the influence of medical background on the diagnostic quality of ChatGPT-4's responses in Internal Medicine. Third-year students, residents and specialists summarised five complex NEJM clinical cases before querying ChatGPT-4. Diagnostic ranking, assessed by independent experts, revealed that residents significantly outperformed students (OR 2.33, p = .007); though overall performance was low. These findings indicate that user expertise and concise case summaries are critical for optimising AI diagnostics, highlighting the need for enhanced AI training and user interaction strategies.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70113"},"PeriodicalIF":3.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-related differences in cardiogenic shock secondary to Takotsubo syndrome.","authors":"Marco Tomasino, Ravi Vazirani, Jorge Salamanca, Sergio Raposeiras-Roubin, Clara Fernández-Cordón, Miguel Corbí-Pascual, Oscar Vedia, Agustín C Martín-García, Emilia Blanco-Ponce, Manuel Almendro Delia, Alberto Piserra-López, Jaime Francisco Larre Guerra, Francisco Gonzalez-Santorum, Carmen Lluch-Requerey, Marta Guillén-Marzo, Alberto Pérez-Castellanos, Francisco Ridocci-Soriano, Javier Lopez-País, Rut Andrea, Alessandro Sionis, Iván J Núñez-Gil, Aitor Uribarri","doi":"10.1111/eci.70119","DOIUrl":"https://doi.org/10.1111/eci.70119","url":null,"abstract":"<p><strong>Background: </strong>Age-related differences in Takotsubo Syndrome (TTS) have been described, but there is limited information regarding TTS patients who develop cardiogenic shock (CS).</p><p><strong>Methods and results: </strong>We analysed data from 408 CS-TTS patients in the RETAKO registry. Patients were stratified into three age groups: ≤50 years (9%), 51-74 years (48%), and ≥75 years (43%). In the youngest group, compared to the middle-aged and the oldest groups, patients were more likely to be male (35% vs. 16% and 14%, p = .01), have a physical trigger (65% vs. 43% and 49%, p = .04), exhibit atypical echocardiographic patterns (27% vs. 11% and 11%, p = .02), and experienced a higher incidence of ventricular arrhythmias (24% vs. 8% and 7%, p = .01). In-hospital mortality rates were 5% in younger patients, 12% in middle-aged patients, and 15% in older patients (p = .15). Older age independently predicted both in-hospital mortality (OR 2.33, 95% CI 1.05-5.17; reference: middle-aged) and 5-year mortality (HR 3.69, 95% CI 1.77-7.67), regardless of shock severity.</p><p><strong>Conclusions: </strong>In CS-TTS, younger patients exhibit distinct clinical features but have better outcomes. Older age is associated with higher in-hospital and long-term mortality, regardless of comorbidities and shock severity. These findings underscore the need for age-specific management strategies and further research into the mechanisms underlying age-related differences in CS-TTS.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70119"},"PeriodicalIF":3.6,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to the comment on 'Branched-chain amino acids and all-cause mortality in patients with liver cirrhosis, and the onset of diabetes in liver transplant recipients'.","authors":"Yakun Li, Robin P F Dullaart","doi":"10.1111/eci.70118","DOIUrl":"https://doi.org/10.1111/eci.70118","url":null,"abstract":"","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70118"},"PeriodicalIF":3.6,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to \"Risk scores for predicting incident heart failure admission in patients with chronic coronary syndromes: Validation in a prospective, monocentric, long-term, cohort study\".","authors":"","doi":"10.1111/eci.70116","DOIUrl":"https://doi.org/10.1111/eci.70116","url":null,"abstract":"","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70116"},"PeriodicalIF":3.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on \"Branched-chain amino acids and all-cause mortality in patients with liver cirrhosis, and the onset of diabetes in liver transplant recipients\".","authors":"Rachana Mehta, Ranjana Sah","doi":"10.1111/eci.70117","DOIUrl":"https://doi.org/10.1111/eci.70117","url":null,"abstract":"","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70117"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unbiased serum proteomics in heart failure and associated pulmonary hypertension: From biomarkers discovery to precision medicine.","authors":"Matteo Santi, Rosalinda Madonna","doi":"10.1111/eci.70115","DOIUrl":"https://doi.org/10.1111/eci.70115","url":null,"abstract":"<p><p>Heart failure (HF) and pulmonary hypertension (PH) due to left heart disease (PH-LHD) are complex and heterogeneous syndromes with diverse underlying mechanisms and variable clinical courses. Despite significant progress in clinical management, current diagnostic and prognostic approaches often fail to capture the underlying molecular diversity of these conditions. Unbiased serum proteomics offers a promising solution to enable novel biomarkers and pathophysiological pathways directly from patient samples. Using high-throughput mass spectrometry (MS) and aptamer-based platforms, proteomic profiling enables the simultaneous quantification of thousands of proteins across a wide dynamic range, offering a multidimensional perspective on disease mechanisms. In HF, proteomic signatures differentiate phenotypes such as HF with reduced ejection fraction (HFrEF) and HF with preserved ejection fraction (HFpEF) through distinct inflammatory, metabolic and remodelling pathways, supporting more accurate diagnosis and risk assessment. In PH-LHD, dysregulated protein networks reflect pressure overload, atrial remodelling and right ventricular adaptation, supporting more refined phenotypic stratification. Integrating proteomic data with clinical, imaging and genomic variables enhances predictive accuracy and opens new avenues for individualized therapy. However, challenges remain, including pre-analytical variability, data interpretation and the need for rigorous validation across independent cohorts. This review discusses current advances in serum proteomics applied to HF and PH-LHD, methodological strengths and limitations and outlines the translational potential of proteomic findings to improve patient outcomes and support precision medicine.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70115"},"PeriodicalIF":3.6,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of remdesivir for the treatment of COVID-19 in patients with hematologic malignancy-A narrative review and expert opinion.","authors":"Malgorzata Mikulska, Matteo Bassetti, Alessandro Busca, Valeria Cento, Maddalena Giannella, Michele Bartoletti","doi":"10.1111/eci.70108","DOIUrl":"https://doi.org/10.1111/eci.70108","url":null,"abstract":"<p><strong>Background: </strong>COVID-19 remains a potentially severe condition for immunocompromised individuals, such as patients with hematologic malignancy. These patients are at increased risk of progressing to severe-critical or prolonged COVID-19. Prompt treatment with antivirals has proven effective in preventing disease progression and is recommended by current guidelines. We discuss here the position of remdesivir in the management of onco-hematologic patients infected with SARS-CoV-2 and strategies for its use.</p><p><strong>Methods: </strong>Narrative review of current evidence regarding remdesivir in the treatment of COVID-19 in patients with hematologic malignancy.</p><p><strong>Results: </strong>Patients with non-severe COVID-19 should receive remdesivir as soon as possible after diagnosis, and within 7 days from symptom onset. A 3-day treatment duration is recommended. In patients at high risk of developing severe COVID-19 - patients with B-cell depletion and recipients of allogeneic HSCT or CAR T cell therapy or bispecific antibodies - treatment may be prolonged and/or combined with other COVID-19 therapeutics. Patients with severe COVID-19 requiring supplemental oxygen should receive remdesivir as soon as possible, preferentially for 10 days. In those at high risk of progressing to critical COVID-19, combination of remdesivir with other COVID-19 therapeutics can be considered. In case of relapse or persisting symptoms, remdesivir treatment can be prolonged and/or repeated or combined with other COVID-19 therapeutics.</p><p><strong>Conclusions: </strong>Evidence from clinical trials and real-world studies shows that remdesivir is a valid option for the treatment of SARS-CoV-2-infected onco-hematologic patients, across a wide spectrum of COVID-19 severity. The drawback of remdesivir-intravenous administration mode-is counterbalanced by good tolerability, negligible drug-drug interactions and a high barrier to virus resistance.</p>","PeriodicalId":12013,"journal":{"name":"European Journal of Clinical Investigation","volume":" ","pages":"e70108"},"PeriodicalIF":3.6,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}