Clinica Chimica Acta最新文献

{"title":"Establishment of the isotope dilution-gas chromatography-tandem mass spectrometry (ID-GC/MS) method for accurate quantification of phenylalanine and its application to value assignment of external quality assessment samples","authors":"Zhizheng Li ,&nbsp;Zhonggan Jin ,&nbsp;Ming Zong","doi":"10.1016/j.cca.2025.120262","DOIUrl":"10.1016/j.cca.2025.120262","url":null,"abstract":"<div><h3>Objectives</h3><div>Phenylalanine (Phe) was an essential amino acid that was crucial for diagnosing phenylketonuria (PKU) and managing their blood Phe levels. Currently, there was no JCTLM-recognized reference method for measuring Phe internationally. To standardize the measurement of serum Phe, our primary goal was to establish an accurate quantitative method based on isotope dilution combined with gas chromatography-mass spectrometry (ID-GC/MS) for the quantitative detection of Phe in human serum, and its performance was thoroughly validated.</div></div><div><h3>Methods</h3><div>Serum samples were pre-treated using acetonitrile protein precipitation. After derivatization with N-(Methyl)-N-(trimethylsilyl)trifluoroacetamide (MSTFA), serum Phe content was quantitatively detected using the ID-GC/MS method. Mass spectrometry analysis was conducted using the SIM monitoring mode. The analytical performance and application of the new method were investigated. External quality assessment (EQA) samples were tested using the established method, and their accuracy was compared with clinical laboratory results.</div></div><div><h3>Results</h3><div>The total detection time for Phe using the established method was 7 min. This method was capable of quantifying Phe within the range of 7.39 to 1188.81 μmol/L, with a limit of quantitation of 3.03 μmol/L. The intra-assay and inter-assay coefficients of variation (CV) were both ≤2.5 %, and the spike recovery rate ranged from 97.64 % to 100.72 %, and a relative expanded uncertainty was ≤3.0 % (k = 2). The method was free from interference, matrix effect and carry-over. Moreover, the ID-GC/MS measurement procedure was successfully applied to measure Phe in serum samples and to assign value of EQA samples.</div></div><div><h3>Conclusions</h3><div>This study successfully established an accurate quantitative method for detecting serum Phe concentrations using ID-GC/MS technology and it could support EQA management for Phe testing, providing traceable target values for samples.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120262"},"PeriodicalIF":3.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742112","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":"Development of an external quality assurance (EQA) structure to evaluate the quality of genetic pathology reporting","authors":"Tony Badrick ,&nbsp;Jason Tseung ,&nbsp;Maddison Frogley ,&nbsp;Sze Yee Chai ,&nbsp;Brett A. Lidbury","doi":"10.1016/j.cca.2025.120263","DOIUrl":"10.1016/j.cca.2025.120263","url":null,"abstract":"<div><div>A standard for reporting genetic pathology results currently does not exist as a consensus. While effective reports are produced, there is lack of consistency on which details to present or to emphasise, and the ultimate report often reflects an individual practitioner’s preferences derived from anecdotal experience. Genetic knowledge is complex, so poor and/or inconsistent reporting could make the application of pathology results to patient management more challenging than necessary. The aim of this study was to combine expert knowledge with machine learning (ML) applications to design a template to encourage consistent and accurate genetic reporting. To investigate genetic reporting quality within Australasia, past melanoma genetics reports produced in response to RCPA Quality Assurance Program (RCPAQAP) audits were compiled for retrospective text analyses to determine word frequencies and patterns. These text pattern analyses were supported by an investigation of reporting criteria consistency for solid tumours, as well as a narrative review of the broader literature, by a genetic pathology expert to contextualise these results, with the ultimate results combined into a suggested template. These results will be augmented via further ML studies on report structure.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120263"},"PeriodicalIF":3.2,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728994","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":"tRF-23-R9J89O9N9:A novel liquid biopsy marker for diagnosis of hepatocellular carcinoma","authors":"Kangfeng Jin ,&nbsp;Zhiyun Mao ,&nbsp;Yelan Tang ,&nbsp;Wei Feng ,&nbsp;Shaoqing Ju ,&nbsp;Rongrong Jing ,&nbsp;Jianhui Chen ,&nbsp;Wei Zong","doi":"10.1016/j.cca.2025.120261","DOIUrl":"10.1016/j.cca.2025.120261","url":null,"abstract":"<div><h3>Background</h3><div>Non-coding small RNA, specifically tRNA-derived small RNAs (tsRNAs), are readily detectable in cancer patients, exhibit remarkable stability, and are present in high abundance. They play a significant role in tumor development. However, the clinical significance of serum tsRNAs in hepatocellular carcinoma (HCC) remains poorly understood. In this study, we explored the impact of a novel tsRNA, named tRF-23-R9J89O9N9, in the adjuvant diagnosis, disease monitoring, and prognosis assessment of HCC.</div></div><div><h3>Methods</h3><div>The tRF-23-R9J89O9N9 was identified as the target molecule through screening the The Cancer Genome Atlas(TCGA) database. Its expression levels were measured using qRT-PCR. Various methods, including agarose gel electrophoresis, Sanger sequencing, gradient dilution experiments, room temperature stability tests, and repeated freeze–thaw assessments, were employed to evaluate the performance of tRF-23-R9J89O9N9. The correlation between tRF-23-R9J89O9N9 levels and clinicopathological parameters was analyzed using the χ² test. The diagnostic value of tRF-23-R9J89O9N9 in HCC was assessed with ROC curve analysis, while the prognostic value was evaluated using Kaplan-Meier curves.</div></div><div><h3>Results</h3><div>Serum tRF-23-R9J89O9N9 expression levels were significantly elevated in HCC patients, while levels in postoperative patients were restored to those of healthy subjects. Additionally, the expression of tRF-23-R9J89O9N9 related to TNM stage(P = 0.009), lymph node metastasis(P＜0.0001), and degree of differentiation(P＜0.0001). Furthermore, the combination of AFP, PIVKA-II, and CEA greatly improved the diagnostic value for HCC. Serum tRF-23-R9J89O9N9 was also identified as a potential biomarker for dynamic monitoring and prognosis of HCC.</div></div><div><h3>Conclusions</h3><div>tRF-23-R9J89O9N9 may regard as a potential novel biomarker for the adjuvant diagnosis of HCC.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120261"},"PeriodicalIF":3.2,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143724960","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":"Long non-coding RNAs in bipolar disorder","authors":"Seyyed Navid Mousavinejad ,&nbsp;Felora Ferdosi ,&nbsp;Siamand Abdolghaderi ,&nbsp;Sheyda Shahpasand ,&nbsp;Ehsan Dadgostar ,&nbsp;Amir Asadi ,&nbsp;Sanam Anoosheh ,&nbsp;Seyyed Hossein Khatami","doi":"10.1016/j.cca.2025.120265","DOIUrl":"10.1016/j.cca.2025.120265","url":null,"abstract":"<div><div>Bipolar disorder is characterized by alternating episodes of mania or hypomania and depression, encompassing various forms such as cyclothymia, bipolar I disorder, and bipolar II disorder. Manic periods present with increased energy and decreased sleep, whereas depressive episodes involve poor energy and extended sleep duration. Despite the availability of treatments, approximately 30% of patients with bipolar disorder are drug resistant and require alternative strategies. Recent research highlights the role of long noncoding RNAs (lncRNAs) as potential biomarkers for bipolar disorder, aiding in distinguishing it from other mood disorders and improving diagnostic accuracy. LncRNAs such as GAS5 and FOXD3-AS1 are downregulated in bipolar disorder patients, suggesting their utility as diagnostic tools. LncRNAs regulate gene expression through interactions with DNA, RNA, and proteins, influencing various biological processes. Studies have identified several lncRNAs linked to bipolar disorder, including lincRNA-p21, lincRNA-ROR, and lincRNA-PINT. These findings underscore the potential of lncRNAs as biomarkers and therapeutic targets, facilitating more personalized treatment strategies. This review explores the diagnostic and therapeutic potential of lncRNAs in bipolar disorder, aiming to enhance the current understanding and management of this condition.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120265"},"PeriodicalIF":3.2,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679197","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":"Challenges in harmonizing immunoassays: The use of the Bland-Altman based harmonization algorithm","authors":"Wenqing Liu ,&nbsp;Xing Qi ,&nbsp;Huaguo Wang ,&nbsp;Sheng Lin ,&nbsp;Yan Zhang ,&nbsp;Ping Zhu ,&nbsp;Xiaoqin Gou ,&nbsp;Xin Chang ,&nbsp;Wenqing Chu ,&nbsp;Jinbo Liu ,&nbsp;Yuanbiao Guo","doi":"10.1016/j.cca.2025.120247","DOIUrl":"10.1016/j.cca.2025.120247","url":null,"abstract":"<div><h3>Background</h3><div>In this study, we compared the recently proposed Bland-Altman plot-based harmonization algorithm (BA-BHA) with the weighted Deming regression-based harmonization algorithm (WD-BHA) taken as an example in ISO 21151:2020, aiming to evaluate the effectiveness of BA-BHA and discuss the applicability of these two different harmonization algorithms.</div></div><div><h3>Methods</h3><div>BA-BHA and WD-BHA were applied to 19 measurands on LiCA medical devices, Chemclin Diagnostics Co., Ltd. A panel of 80 patient sera were collected for each measurand and the effectiveness of BA-BHA and the applicability of the two different harmonization algorithms were specified according to the Bland-Altman (B-A) plot, curve estimation and the Passing-Bablok regression.</div></div><div><h3>Results</h3><div>After harmonized with BA-BHA, the mean of the B-A plot for each measurand was close to zero, and the limits of agreement (LoAs) met the quality requirements. The distribution of the variations in the B-A plot was demonstrated approximately symmetric over the measuring interval. Furthermore, “0” was included in the 95% confidence interval of the intercept and “1” was included in the 95% confidence interval of the slope for the Passing-Bablok regression, indicating acceptable harmonization effects for all 19 measurands. In contrast, acceptable harmonization effects were achieved in only some of the 19 measurands.</div></div><div><h3>Conclusion</h3><div>Acceptable harmonization effects can be achieved for various measurands by BA-BHA because both the mean and the distribution of percent differences in the B-A plot can be adjusted, which demonstrating BA-BHA with a more extensive applicability compared to WD-BHA.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120247"},"PeriodicalIF":3.2,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699498","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":"Heterogeneity in benign and malignant salivary gland tumors","authors":"Mehdi Ghasemian ,&nbsp;Mohammad Amin Gholami ,&nbsp;Mohammad Javad Fattahi ,&nbsp;Farnia Ghasemi ,&nbsp;Hamid Ghaderi ,&nbsp;Bijan Khademi ,&nbsp;Abbas Ghaderi ,&nbsp;Mohammad Reza Haghshenas","doi":"10.1016/j.cca.2025.120258","DOIUrl":"10.1016/j.cca.2025.120258","url":null,"abstract":"<div><div>Advanced proteomics tools have identified the role of proteins in cancer biology, highlighting the importance of these molecules for biomarker discovery and providing valuable insights into cancer diagnosis, prognosis, and targeted therapy. Proteome analysis of tissue using high-throughput proteomics techniques has identified proteins associated with recurrence and malignant transformation in benign tumors, and protein profiling of fine needle aspiration has revealed potential biomarkers for distinguishing malignant salivary gland tumors from benign ones. In addition, proteomics studies have identified distinct protein expression patterns in mesenchymal stem cells derived from malignant salivary gland tumors, suggesting a potential role for proteins in adverse behavior and/or targeted therapy. To provide a comprehensive knowledge of salivary gland tumors, this review will first provide a brief description of the molecular and cellular alterations in common benign and malignant salivary gland tumors and then describe the proteomics studies by concentration on different biological sources including serum/plasma, saliva, tumor tissues and related derivatives (e.g. mesenchymal stem cells, tumor cells, tumor established cell lines, and fine needle aspiration), and introduce potential targets for diagnosis, prognosis, and cancer therapy.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120258"},"PeriodicalIF":3.2,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673429","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":"The neglected issue of pyridoxal-5′ phosphate","authors":"Mario Plebani ,&nbsp;Joris Delanghe","doi":"10.1016/j.cca.2025.120232","DOIUrl":"10.1016/j.cca.2025.120232","url":null,"abstract":"","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120232"},"PeriodicalIF":3.2,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669407","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":"Biomarkers for nasopharyngeal carcinoma","authors":"Hsun-Ting Hsieh ,&nbsp;Xin-Yao Zhang ,&nbsp;Yi Wang ,&nbsp;Xin-Qi Cheng","doi":"10.1016/j.cca.2025.120257","DOIUrl":"10.1016/j.cca.2025.120257","url":null,"abstract":"<div><div>Nasopharyngeal Carcinoma (NPC) is a malignant tumor that is highly prevalent in Southeast Asia, particularly in China and Indonesia. According to the World Health Organization’s global cancer statistics in 2022, there were 120,434 new cases and 73,485 deaths from NPC. Risk factors contribute to NPC development including genetic factors, dietary habits, and Epstein-Barr virus (EBV) infection. This paper reviews the comparison of different types of EBV test for NPC over the last few years and summarized the performance of novel diagnostic biomarker such as newly reported EBV antibody, anti-BNLF2b IgG (P85-Ab), microRNAs, DNA methylation and other markers for detection of NPC. Because approximately 40% of NPC patients show negative EBV DNA levels, additional markers are needed for NPC diagnosis, especially in cases without EBV infection, to make the result trustworthy. The potential biomarkers including circulating tumor cells, proteins, microRNAs and Rta-IgG for prognostic and therapeutic effect also be summarized. This review provides insights into potential biomarkers for early NPC detection and diagnosis, which could lead to improved prevention, treatment, and prognosis strategies.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120257"},"PeriodicalIF":3.2,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673422","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":"The value of serum glial fibrillary acidic protein as a biomarker of astrogliosis in different neurological diseases","authors":"Luisa Agnello ,&nbsp;Caterina Maria Gambino ,&nbsp;Anna Maria Ciaccio ,&nbsp;Giuseppe Salemi ,&nbsp;Filippo Brighina ,&nbsp;Paolo Ragonese ,&nbsp;Tommaso Piccoli ,&nbsp;Valeria Blandino ,&nbsp;Vincenzo Di Stefano ,&nbsp;Francesco Cacciabaudo ,&nbsp;Anna Masucci ,&nbsp;Roberta Vassallo ,&nbsp;Concetta Scazzone ,&nbsp;Fabio Del Ben ,&nbsp;Marcello Ciaccio","doi":"10.1016/j.cca.2025.120248","DOIUrl":"10.1016/j.cca.2025.120248","url":null,"abstract":"<div><h3>Background</h3><div>Glial Fibrillary Acidic Protein (GFAP) is a well-established biomarker of astrocytes and astrogliosis, a pathological response observed in various neurological diseases. This study aimed to evaluate the diagnostic performance of serum GFAP in Alzheimer’s disease (AD), multiple sclerosis (MS), and transthyretin amyloidosis (ATTR) polyneuropathy.</div></div><div><h3>Methods</h3><div>We performed a retrospective observational study, including 498 participants (337 healthy controls and 161 patients with AD, MS, or ATTR amyloidosis). Serum GFAP levels were measured using the Lumipulse G1200 platform, and statistical analyses were performed to compare levels across disease groups and assess their diagnostic accuracy.</div></div><div><h3>Results</h3><div>GFAP levels were significantly elevated in all neurological disease groups compared to age-matched controls, with the highest levels found in AD (79.4 pg/mL vs. 39.5 pg/mL, p = 2.55 × 10⁻¹²). ROC curve analysis revealed that GFAP had strong diagnostic performance for AD (AUC = 0.86), moderate performance for ATTR amyloidosis (AUC = 0.67), and poor performance for MS (AUC = 0.61).</div></div><div><h3>Conclusions</h3><div>These findings suggest that GFAP is a promising biomarker for AD, reflecting astrocytic activation and neuroinflammatory processes. Its diagnostic utility in ATTR amyloidosis is moderate, while its role in MS remains limited.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120248"},"PeriodicalIF":3.2,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669411","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":"Plasma-based untargeted metabolomics reveals potential biomarkers for screening and distinguishing of ovarian tumors","authors":"Shen Peng ,&nbsp;Yiming Zhu ,&nbsp;Jing Zhu ,&nbsp;Zhongjian Chen ,&nbsp;Yi Tao","doi":"10.1016/j.cca.2025.120246","DOIUrl":"10.1016/j.cca.2025.120246","url":null,"abstract":"<div><div>Ovarian cancer (OC), a leading cause of gynecological cancer mortality, is frequently detected at advanced stages due to asymptomatic early progression. This study investigates plasma-based untargeted metabolomics for identifying biomarkers to screen and differentiate ovarian tumors (OT). Plasma samples from OC, benign ovarian tumors (BOT), and healthy controls (HC) were analyzed. Samples were randomized into train and test sets, with differential metabolites screened via two-tailed Student’s <em>t</em>-test and partial least squares discriminant analysis. ROC models evaluated discriminatory capacity. Key metabolites demonstrated high predictive value: TMAO and hippuric acid distinguished OT from HC (AUC &gt; 0.95), while linoleic acid, alpha-linolenic acid, and arachidonic acid (AUC &gt; 0.9) further supported OT screening. Kynurenine differentiated OC from BOT (AUC = 0.808). Reduced levels of specific lysophosphatidylcholines (LPC (17:0/0:0), LPC (15:0/0:0)) also distinguished OT from HC (AUC = 0.771–0.89). These findings suggest plasma metabolomics holds promise for noninvasive biomarker discovery in OT screening and distinguishing between malignant and benign cases, though further validation of metabolite quantification is warranted prior to clinical application.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"572 ","pages":"Article 120246"},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662438","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}