{"title":"Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis","authors":"Boudour Khabou , Manel Guirat , Manel Hsairi , Lamia Gargouri , Slim Charfi , Mohamed Hadj Kacem , Tahia Boudawara , Hassen Kammoun , Faiza Fakhfakh , Hassen Hadj Kacem","doi":"10.1016/j.cca.2025.120557","DOIUrl":"10.1016/j.cca.2025.120557","url":null,"abstract":"<div><div>Wilson’s disease is an autosomal recessive disorder related to genetic defects in <em>ATP7B</em> gene and characterized by a hepatic and/or neurological impairment. This disease is often misdiagnosed on due to its phenotypic heterogeneity, supporting the importance of the genetic testing. In our study, we reported two brothers presenting with a chronic hepatopathy, classified as intrahepatic cholestasis with unknown etiology based on clinical explorations. A molecular screening through Whole-exome-sequencing was conducted, followed by sanger sequencing and co-segregation analysis in the family’s members. Generated data were the subject of <em>in silico</em> analysis. Results revealed two pathogenic heterozygous variants in <em>ATP7B</em> gene (p.Met665Ile/ p.Gly869Arg) in compound heterozygous state in the analyzed proband and his brother. Predictive data supported their effect on the stability at the RNA and protein levels. In line of these data, additional clinical explorations were ensured and the Leipzig score was assessed to establish the WD diagnosis. Moreover, we identified two additional heterozygous variants shared by both siblings in <em>CFTR</em> (p.Thr351Ser) and <em>PEX26</em> (p.Leu153Val), which may act as phenotype modifiers. Notably, both patients exhibited exocrine pancreatic insufficiency, raising the possibility of a contributory role for the <em>CFTR</em> variant in this atypical presentation. In conclusion, our study reveals a complex genetic background involving <em>ATP7B</em>, <em>CFTR</em>, and <em>PEX26</em>. While the <em>ATP7B</em> variants are responsible for WD, the additional variants may influence the age of onset and severity of the clinical phenotype. These findings underscore the value of high-throughput sequencing technologies in uncovering the molecular basis and phenotypic complexity of inherited diseases.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120557"},"PeriodicalIF":2.9,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862161","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":"Exosomes in preeclampsia","authors":"Asma Vafadar , Zahra Heidari , Pedram Bolbolizadeh , Damoun Razmjoue , Sajad Ehtiati , Amir Savardashtaki","doi":"10.1016/j.cca.2025.120549","DOIUrl":"10.1016/j.cca.2025.120549","url":null,"abstract":"<div><div>Preeclampsia (PE) is a multifactorial pregnancy disorder marked by new-onset hypertension after 20 weeks of gestation, often accompanied by proteinuria or organ dysfunction. Affecting 4–6 % of pregnancies globally, PE remains a leading cause of maternal and fetal morbidity. While its precise etiology is not fully understood, growing evidence implicates extracellular vesicles—particularly exosomes—in its pathogenesis. These nanoscale vesicles facilitate intercellular communication by transporting bioactive molecules, including proteins, lipids, and non-coding RNAs (ncRNAs) such as miRNAs, lncRNAs, and circRNAs. In PE, placental exosomes show altered profiles that contribute to endothelial dysfunction, immune imbalance, and impaired angiogenesis. This review synthesizes current knowledge on exosome biogenesis, their diagnostic utility—especially exosomal ncRNAs as non-invasive biomarkers—and emerging therapeutic strategies, including engineered exosomes for targeted delivery. Our findings highlight the promise of exosomes as precision medicine tools in PE management.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120549"},"PeriodicalIF":2.9,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830977","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}
Jie Li , Hanhui Li , Xiaoping Tan , Jun Zhang , Shengqi Du , Yueyue Lu , Qing Zhang
{"title":"The predictive value of serum mRNA-RGS10 for the severity and prognosis of acute pancreatitis","authors":"Jie Li , Hanhui Li , Xiaoping Tan , Jun Zhang , Shengqi Du , Yueyue Lu , Qing Zhang","doi":"10.1016/j.cca.2025.120531","DOIUrl":"10.1016/j.cca.2025.120531","url":null,"abstract":"<div><h3>Objectives</h3><div>The study investigates serum RGS10 expression in acute pancreatitis (AP) patients and its prognostic value.</div></div><div><h3>Methods</h3><div>Serum samples and clinical data were collected from 104 AP patients and 34 healthy controls (HC). Whole transcriptome sequencing was performed on serum samples from three randomly selected individuals per group.</div></div><div><h3>Results</h3><div>Serum RGS10 levels were significantly higher in the moderately severe acute pancreatitis (MSAP) group compared to the mild acute pancreatitis (MAP) and HC (P < 0.01). RGS10 expression was positively correlated with BISAP score, CTSI, INR, PCT, BUN, and Cr. Univariate and multivariate regression analyses identified RGS10, hydrothorax, and Ca<sup>2+</sup> as independent risk factors for MSAP. RGS10 demonstrated the highest predictive accuracy for MSAP, with an accuracy of 80.0 %, sensitivity of 78.0 %, specificity of 74.1 %. Combining these indicators enhanced the predictive efficacy, achieving an accuracy of 91.2 %, sensitivity of 92.7 %, specificity of 76.3 %. Follow-up data indicated that RGS10, Cr, D-dimer, CTSI, PTAR, PLR, BUN, PT, INR, and disease severity were risk factors for recurrence AP.</div></div><div><h3>Conclusions</h3><div>RGS10 may serve as a novel biomarker for AP severity and recurrence risk.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120531"},"PeriodicalIF":2.9,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820742","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}
Miroslav Stojadinovic , Bogdan Milicevic , Slobodan Jankovic
{"title":"Machine learning-based optimization of the prostate health index for prostate cancer detection","authors":"Miroslav Stojadinovic , Bogdan Milicevic , Slobodan Jankovic","doi":"10.1016/j.cca.2025.120540","DOIUrl":"10.1016/j.cca.2025.120540","url":null,"abstract":"<div><div>The Prostate Health Index (PHI) is composed of the prostate-specific antigen (PSA), free PSA (fPSA), and the [-2]pro-PSA isoform (p2PSA). The aim of the study was to modify the PHI using machine learning (ML) and to compare its prognostic performance with traditional PHI for any-, low- and high-grade prostate cancer (PCa) detection on biopsy. To obtain better-balanced data set we used the over-sampling strategy. The extreme gradient boosting was considered as an ML algorithm. Predictive performance was quantified by the area under the curve (AUC), multiclass classification measures, calibration, and decision curve analysis. We used the feature importance and the SHapley Additive exPlanations value for interpretation of the model. There were 200 patients in the initial pool, but after resampling, the dataset had equal number of data points for each cancer grade (114), i.e. 342 data points in total. The AUC of the modified PHI was significantly higher than those of the traditional PHI (0.898 vs 0.808, 0.868 vs 0.581, and 0.983 vs 0.74) for any, low-grade, and high-grade PCa. The modified PHI had higher net benefit compared to the traditional PHI. However, the ML PHI model had sigmoid-shaped reliability plots. The p2PSA had the highest influence, and the fPSA was the most important factor for risk estimate by the ML PHI. The modified ML PHI model for predicting histological grade of PCa showed superior performance in comparison to the traditional PHI. However, additional studies are required before it can be integrated into routine clinical care.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120540"},"PeriodicalIF":2.9,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820741","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":"Advances in electrochemical biosensors for early detection of rheumatoid arthritis","authors":"Elmurod Egamberdiev , Nurali Shavazi , Mustafa Jawad Kadham , Shaxnoza Kasimova , Nilufar Mamatmusayeva , Dildorakhon Nabieva , Guloyim Avezova , Madina Bekchanova , Sanat Chuponov , Nigina Rustamova , Feruza Oripova , Nigora Dustova , Gulchehra Ikhtiyarova","doi":"10.1016/j.cca.2025.120547","DOIUrl":"10.1016/j.cca.2025.120547","url":null,"abstract":"<div><div>Electrochemical biosensors have emerged as pivotal technologies for the early detection of rheumatoid arthritis (RA), a chronic autoimmune disease characterized by joint inflammation and destruction. This paper reviews the advancements in biosensing platforms, particularly focusing on the detection of anti-citrullinated peptide antibodies (ACPAs) and other biomarkers relevant to RA diagnosis. By integrating nanotechnology and innovative electrochemical methods, these biosensors offer increased sensitivity, specificity, and rapid results, facilitating timely therapeutic interventions. The review also highlights the challenges and future directions in biosensor technology, emphasizing the importance of personalized medicine and real-time monitoring in improving patient outcomes.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120547"},"PeriodicalIF":2.9,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820740","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}
Wytze P. Oosterhuis , Abdurrahman Coskun , Sverre Sandberg , Parvana Mikailova , Elvar Theodorsson , on behalf of the EFLM Committee: Practical Guide to Implement Measurement Uncertainty
{"title":"Measurement uncertainty for practical use – applied in hematology","authors":"Wytze P. Oosterhuis , Abdurrahman Coskun , Sverre Sandberg , Parvana Mikailova , Elvar Theodorsson , on behalf of the EFLM Committee: Practical Guide to Implement Measurement Uncertainty","doi":"10.1016/j.cca.2025.120546","DOIUrl":"10.1016/j.cca.2025.120546","url":null,"abstract":"<div><div>Uncertainty of measurements in clinical laboratories should be monitored, reported, and documented as required by accreditation standards. The conceived complexity of calculation methods described by current guidelines such as ISO 20914 favors a more pragmatic, utilitarian approach. For that reason an alternative approach was applied for measurement uncertainty (MU) calculations in a conglomerate of seven laboratories with eleven measurement systems. MU was based on internal quality control results and for the routine hematological parameters. Graphical and variance component analysis was used to identify factors causing diverging results. MU for hematological tests, but not for all derived parameters were within the MU-APS limits (MAU) based on biological variation. It was demonstrated that MU of a diverging measuring system in the conglomerate could be improved by a correction procedure. In conclusion, that MU could be derived for hematological tests in a conglomerate of laboratories. All the parameters of cellular counting (except indices) were within the specifications based on biological variation. Factors causing deviating results within the conglomerate could be identified and significantl improved.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120546"},"PeriodicalIF":2.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815938","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}
Müjgan Ercan , Esra Fırat Oğuz , Mehmet Özcan , Hamit Hakan Alp
{"title":"Within- and Between-Subject biological variation estimates of serum free light immunoglobulin chains in healthy individuals in Turkey","authors":"Müjgan Ercan , Esra Fırat Oğuz , Mehmet Özcan , Hamit Hakan Alp","doi":"10.1016/j.cca.2025.120545","DOIUrl":"10.1016/j.cca.2025.120545","url":null,"abstract":"<div><div>Serum light immunoglobulin chains (LCs) are critical biomarkers for the diagnosis, prognosis, and treatment response monitoring in monoclonal plasma cell dyscrasias. Robust performance standards based on biological variation (BV) data are essential for optimizing patient care. This study aimed to provide updated BV estimates for serum free LCs (κ and λ) as well as their κ/λ LC ratio. Serum samples from 25 healthy volunteers (10 men, 15 women) were collected weekly over approximately 9 weeks. Serum free LCs were measured in duplicate using the Roche Cobas c501 analyzer. BV estimates with 95 % confidence intervals were calculated using coefficient of variation (CV) in ANOVA for the entire group and by sex, following assessments for outliers, normality, steady-state conditions, and variance homogeneity. The within-subject BV (CV<sub>I</sub>) estimates were 9.2 %, 8.6 %, 6.6 % for free κ, free λ, free κ/λ ratio, respectively. The between-subject BV (CV<sub>G</sub>) estimates were 24.6 %, 26.6 %, and 17.5 %for free κ, free λ and free κ/λ ratio, respectively. No significant sex differences were observed for CV<sub>I</sub> with the exception of free κ and free κ/λ ratio or CV<sub>G</sub> in serum free LCs and their ratio. Free LCs and their κ/λ ratio exhibited marked individuality. Analytical performance specifications (APSs) for desirable imprecision and bias ranged 3.9 %–5.4 %, 4.3 %–5.8 % and 2.9 %–4.6 % for free κ, free λ and free κ/ λ ratio, respectively. This study provides updated, well-characterized BV estimates for serum free (κ and λ) and free κ/λ ratio, providing essential data to define APSs. The individuality of κ and λ underscores the importance of prioritizing reference change values over traditional reference intervals for improved diagnosis and monitoring in clinical practice.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120545"},"PeriodicalIF":2.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144809456","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}
Zhipeng Pan , Guoqing Li , Hanqing Wu , Faming Pan
{"title":"Circulating tumor DNA methylation in colorectal cancer: a meta-analysis","authors":"Zhipeng Pan , Guoqing Li , Hanqing Wu , Faming Pan","doi":"10.1016/j.cca.2025.120543","DOIUrl":"10.1016/j.cca.2025.120543","url":null,"abstract":"<div><h3>Objectives</h3><div>To synthetically evaluate the diagnostic performance of circulating tumor DNA (ctDNA) methylation for colorectal cancer (CRC).</div></div><div><h3>Methods</h3><div>Relevant articles published before March 4, 2025 were searched. The pooled sensitivity, specificity, positive and negative likelihood ratio, diagnostic odds ratio (DOR), and the areas under the summary receiver operating characteristic curve (AUC) were calculated. Subgroup analysis and <em>meta</em>-regression were used to evaluate potential sources of heterogeneity.</div></div><div><h3>Results</h3><div>Totally, 147 articles containing 15,133 CRC patients were included in this <em>meta</em>-analysis. The pooled sensitivity, specificity and DOR of ctDNA methylation were 0.655, 0.902 and 20.662, respectively, yielding an AUC of 0.8851. Meanwhile, the combination of ctDNA methylation and carcinoembryonic antigen (CEA) achieved an AUC of 0.9269, with a sensitivity of 0.804, with a specificity of 0.904. Subgroup and <em>meta</em>-regression analyses indicated that the diagnostic value of multiple genes (AUC = 0.9059) and digital PCR assay (AUC = 0.8907) was higher than that of single gene and other assays. Gene dosage and detection method might be the sources of heterogeneity. There was no publication bias among these articles.</div></div><div><h3>Conclusion</h3><div>The overall performance of ctDNA methylation had great diagnostic accuracy for the early screening and diagnosis of CRC, especially after combining with CEA, but many open questions remain before clinical application.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120543"},"PeriodicalIF":2.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815937","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":"Association of platelet dynamics for Klebsiella pneumoniae bloodstream infection patients with severe sepsis and/or septic shock","authors":"Shixiao Li, Junyu Jiang","doi":"10.1016/j.cca.2025.120530","DOIUrl":"10.1016/j.cca.2025.120530","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the predictive value of reduced platelet count for progression to severe sepsis and/or septic shock in patients with <em>Klebsiella pneumoniae</em> bloodstream infection.</div></div><div><h3>Methods</h3><div>The clinical data of 205 patients with <em>K. pneumoniae</em> bloodstream infection admitted to Taizhou Hospital, Zhejiang Province, from January 2023 to December 2024 were retrospectively analyzed. Independent risk factors for severe sepsis and/or septic shock were screened by multivariate logistic regression analysis, and platelet count variations were monitored dynamically for 9 days following the onset of the bloodstream infection.</div></div><div><h3>Results</h3><div>There was no significant difference in baseline characteristics between the severe sepsis and/or septic shock group (n = 135) and the non-severe sepsis and/or septic shock group (n = 70); however, the incidence of urinary tract infections was significantly higher in the severe group (17.8 % <em>vs.</em> 7.1 %, <em>p</em> = 0.038). Laboratory indicators revealed that PCT, CRP, LAC, Cr, BUN and D-Dimer were markedly elevated, while PLT and ALB were dramatically diminished in the severe group (<em>p</em> < 0.05). Dynamic monitoring indicated that PLT attained its nadir on days 3–5 post-infection in both cohorts; however, the mean PLT value in the severe group was below 150 × 10<sup>9/L</sup> during this period. Multivariate analysis indicated that a platelet (PLT) value of 50–99 × 10<sup>9/L</sup> on the day of blood culture collection (OR = 2.766, 95 % CI 1.060–7.218, <em>p</em> = 0.038) and the trajectory of PLT decline in the stable group (OR = 2.431, 95 % CI 1.073–5.510, <em>p</em> = 0.033) and descending group (OR = 2.036, 95 % CI 1.113–3.724, <em>p</em> = 0.021) on day 5 were independent predictors of severe sepsis and/or septic shock.</div></div><div><h3>Conclusion</h3><div>An early decrease of platelet count, especially the dynamic decrease of KP-BSI patients on day 3–5, was significantly related to the risk of severe sepsis and/or septic shock.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120530"},"PeriodicalIF":2.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815917","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}
Shiyu Liu , Min Zhao , Xin Yang , Yuan Liu , Hongcai Xu , Huayu Yan , Yumin Xu
{"title":"Exosomal microRNA biomarkers in Alzheimer’s disease: Systematic review and meta-analysis","authors":"Shiyu Liu , Min Zhao , Xin Yang , Yuan Liu , Hongcai Xu , Huayu Yan , Yumin Xu","doi":"10.1016/j.cca.2025.120542","DOIUrl":"10.1016/j.cca.2025.120542","url":null,"abstract":"<div><h3>Background</h3><div>Recent studies have suggested an association between exosomal microRNAs (miRNAs) and Alzheimer’s disease (AD). However, their effectiveness as clinical biomarkers has yet to be definitively established. This study aims to assess the diagnostic value of exosomal miRNAs in AD through a <em>meta</em>-analysis.</div></div><div><h3>Methods</h3><div>As of June 10, 2025, a comprehensive literature search was conducted across eight databases using various search strategies to identify studies that met the inclusion criteria. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was employed to evaluate the quality of the included studies. Threshold heterogeneity was examined using Meta-DiSc 1.4 software. Stata/MP 18.0 software was used to synthesize effect sizes, including sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and the area under the receiver operating characteristic curve (AUC). Subgroup analysis, <em>meta</em>-regression, and sensitivity analysis were conducted to explore potential sources of heterogeneity. Deek’s funnel plot was used to assess publication bias.</div></div><div><h3>Results</h3><div>A total of 14 articles (comprising 23 studies) were included, involving 910 patients and 696 controls. The pooled SEN, SPE, PLR, NLR, DOR, and AUC were 0.83 [95 % CI (0.77–0.88)], 0.84 [95 % CI (0.76–0.90)], 5.24 [95 % CI (3.32–8.26)], 0.20 [95 % CI (0.15–0.29)], 25.70 [95 % CI (12.79–51.62)] and 0.90 [95 % CI (0.87–0.92)], respectively. The Spearman correlation coefficient was 0.070 (<em>P</em> = 0.752 > 0.05), indicating an absence of threshold effect heterogeneity. The asymmetry test of Deek’s funnel plot revealed no evidence of publication bias (<em>P</em> = 0.06 > 0.05). Subgroup analysis demonstrated enhanced diagnostic performance for AD using exosomal miRNAs in blood samples with a sample size of ≥ 50 and a specific cut-off value.</div></div><div><h3>Conclusion</h3><div>The findings of this study suggest that the expression levels of exosomal miRNAs are correlated with AD and may serve as potential diagnostic biomarkers for the disease.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"578 ","pages":"Article 120542"},"PeriodicalIF":2.9,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144811867","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}