Dewen Zhu , Jinlei Li , Wenwen Zhang , Yishuai Wang , Huidong Wang , Ruoyan Fei , Qian Ye , Danli Peng , Ju Luan , Chang Xu , Xiaoli Wu , Dan Huang , Chunming Ding , Shengnan Jin
{"title":"Highly specific multiplex DNA methylation detection for liquid biopsy of colorectal cancer","authors":"Dewen Zhu , Jinlei Li , Wenwen Zhang , Yishuai Wang , Huidong Wang , Ruoyan Fei , Qian Ye , Danli Peng , Ju Luan , Chang Xu , Xiaoli Wu , Dan Huang , Chunming Ding , Shengnan Jin","doi":"10.1016/j.cca.2024.120026","DOIUrl":"10.1016/j.cca.2024.120026","url":null,"abstract":"<div><h3>Background</h3><div>Circulating tumor DNA (ctDNA) has emerged as a useful biomarker for cancer detection and prognosis. In this study, we developed a strategy for developing a highly specific multiplex qPCR assay to detect methylated ctDNA in the blood of colorectal cancer (CRC) patients and investigated the potential use for the detection and prognosis of CRC.</div></div><div><h3>Methods</h3><div>Bisulfite conversion and amplicon sequencing were used to confirm potential CRC-specific DNA methylation markers. The selected DNA methylation candidates were validated by qMSP. The six best-performing markers were used to develop a new single-tube multiplex quantitative methylation-specific PCR assay (mqMSP). The mqMSP assay was applied to analyze plasma samples from 114 CRC patients, 47 patients with advanced adenoma, 45 patients with benign polyps, and 57 healthy controls. The clinical performance of the assay and associations with clinical outcomes were assessed.</div></div><div><h3>Results</h3><div>Six DNA methylation biomarkers were confirmed to be specifically hypermethylated in CRC tumor tissues. The newly developed mqMSP assay detected CRC with extremely high specificity (specificity of 98.2 %, with sensitivity of 67.5 %). The detection rate of ctDNA was significantly correlated with tumor size and clinical stage, with ctDNA methylation levels in the blood markedly increased with larger tumor size, poor differentiation, and advanced stage. Moreover, high preoperative methylated ctDNA level was associated with worse recurrence-free survival and overall survival.</div></div><div><h3>Conclusion</h3><div>We provided a strategy for identification of multiple highly-specific DNA methylation markers for designing multiplex DNA methylation assays for liquid biopsies of CRC. The newly developed assay has potential for CRC early detection, and prognosis.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567558","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}
Erik Wilhelm Vinnes, Eirik Åsen Røys, Renate Renstrøm, Ida Sofie Karlsen Sletten, Sutirtha Chakraborty
{"title":"A systematic review of total IgE reference intervals - A 2024 update.","authors":"Erik Wilhelm Vinnes, Eirik Åsen Røys, Renate Renstrøm, Ida Sofie Karlsen Sletten, Sutirtha Chakraborty","doi":"10.1016/j.cca.2024.120024","DOIUrl":"https://doi.org/10.1016/j.cca.2024.120024","url":null,"abstract":"<p><strong>Background: </strong>Total IgE (tIgE) is a frequently requested analyte in patients presenting with symptoms of atopy. Although tIgE has limited clinical utility in the diagnosis of atopic diseases, it is still important that appropriate reference intervals are provided to the intepreting clinician. Concerns have recently been raised whether laboratories are using outdated tIgE reference intervals. The aim of this study was therefore to perform the first systematic literature review of tIgE reference intervals to aid laboratories in choosing appropriate sources of tIgE reference intervals.</p><p><strong>Methods: </strong>A search was performed in MEDLINE, Embase and the Cochrane Library from time of inception to July 2024. Eligible studies had to provide an estimate of paediatric and/or adult tIgE reference intervals using current generation immunoassays. The methodology followed PRISMA guidelines, and the study protocol was registered in the PROSPERO database (CRD42023396441).</p><p><strong>Results: </strong>A total of 1667 records were screened of which 20 studies remained after the full text review. The studies included 23 910 individuals and covered 18 countries. Upper reference limits varied significantly, with participant selection (inclusion or exclusion of in vitro confirmed specific IgE sensitised individuals) and statistical methods identified as the most important factors influencing the upper reference limit.</p><p><strong>Conclusion: </strong>This review emphasises the need for laboratories to carefully evaluate the participant selection criteria and employed statistical methods whilst determining which tIgE reference intervals are the most appropriate to report to clinicians. Further efforts should also be made to harmonise and improve the reporting of tIgE reference interval studies.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567551","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":"Establishment of a high-sensitivity time-resolved fluorescence immunoassay with PLA2R-IgG1 antibody and its clinical application in idiopathic membranous nephropathy prognosis.","authors":"Shang Gao, Yafen Yu, Shangbin Kao, Tianyu Zheng, Yuan Qin, Xiumei Zhou, Biao Huang, Heng Li","doi":"10.1016/j.cca.2024.120019","DOIUrl":"10.1016/j.cca.2024.120019","url":null,"abstract":"<p><strong>Introduction: </strong>The objective of this study was to develop a highly sensitive time-resolved fluorescence immunoassay (TRFIA) method to detect phospholipase A2 receptor (PLA2R)-IgG1 antibodies and evaluate its clinical relevance in predicting the prognosis of individuals with idiopathic membranous nephropathy (IMN).</p><p><strong>Materials and methods: </strong>A three-step indirect TRFIA method was established using a PLA2R antigen-coated microtiter plate to capture PLA2R-IgG antibodies, followed by detection using mouse anti-human IgG1 and Eu<sup>3+</sup>-labeled goat anti-mouse IgG antibodies. This method was applied to the initial serum of 56 patients with PLA2R-IMN to investigate the clinical value of PLA2R-IgG1 antibody levels in predicting IMN prognosis.</p><p><strong>Results: </strong>The detection range of PLA2R-IgG1-TRFIA was 0.85-300RU/mL, with intra-assay precision of 3.54-5.93 % and inter-assay precision of 4.39-9.36 %. Recoveries were 101.77-108.04 %. A PLA2R-IgG1 level above 2.21RU/mL indicated PLA2R-IMN. At initial diagnosis, the median PLA2R-IgG level was 51.24RU/mL in the remission group and 93.27RU/mL in the non-remission group. The median PLA2R-IgG1 level was 603.32RU/mL in the non-remission group, which was 4.29 times higher than that in the remission group (140.67RU/mL). PLA2R-IgG1 levels (P = 0.001) more effectively distinguished between remission and non-remission groups compared with PLA2R-IgG levels (P = 0.094).</p><p><strong>Conclusions: </strong>The first quantitative TRFIA for PLA2R-IgG1 was established, showing greater clinical value in predicting IMN prognosis, compared to that for PLA2R-IgG levels.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567557","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}
Somayeh Ahmadi , Farzaneh Rafie Sedaghat , Mohammad Yousef Memar , Mina Yekani
{"title":"Metabolomics in the Diagnosis of Bacterial Infections","authors":"Somayeh Ahmadi , Farzaneh Rafie Sedaghat , Mohammad Yousef Memar , Mina Yekani","doi":"10.1016/j.cca.2024.120020","DOIUrl":"10.1016/j.cca.2024.120020","url":null,"abstract":"<div><div>One of the essential factors in the appropriate treatment of infections is accurate and timely laboratory diagnosis. The correct diagnosis of infections plays a vital role in determining desirable therapy and controlling the spread of pathogens. Traditional methods of infection diagnosis are limited by several factors such as insufficient sensitivity and specificity, being time-consuming and laborious, having a low ability to distinguish infection from non-infectious inflammatory conditions and a low potential to predict treatment outcomes. Therefore, it is necessary to find innovative strategies for detecting specific biomarkers in order to diagnose infections. The rapid advancement of metabolomics makes it possible to determine the pattern of metabolite changes in the both of pathogen and the host during an infection. Metabolomics is a method used to assess the levels and type of metabolites in an organism. Metabolites are of low-molecular-weight compounds produced as a result of metabolic processes and pathways within cells. Metabolomics provides valuable data to detect accurate biomarkers of specific biochemical features directly related to certain phenotypes or conditions. This study aimed to review the applications and progress of metabolomics as a biomarker for the diagnosis of bacterial infections.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567562","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}
Mo Wang , Jie Shi , Yichuan Song, Shunli Zhang, Rui Zhang
{"title":"An accurate measurement method for serum homocysteine measurement by ID-LC/MS/MS and the application of external quality assessment","authors":"Mo Wang , Jie Shi , Yichuan Song, Shunli Zhang, Rui Zhang","doi":"10.1016/j.cca.2024.120021","DOIUrl":"10.1016/j.cca.2024.120021","url":null,"abstract":"<div><h3>Background</h3><div>Serum homocysteine (Hcy) measurement accuracy is essential for detecting and diagnosing cardio-cerebrovascular illnesses. Although many different methods have been developed to determine the concentration of Hcy, those different assays showed nonequivalent results. This study aimed to develop an accurate and precise isotope dilution liquid chromatography-tandem mass spectrometry (ID-LC/MS/MS) method for serum homocysteine (Hcy) and assign values for reference materials used in external quality assessment (EQA) programs.</div></div><div><h3>Methods</h3><div>Different concentrations of homocysteine calibration solutions were prepared with d4-Hcy as the internal standard. This method employed DTT to reduce protein-bound Hcy, followed by protein precipitation, and gradient elution on a Supelcosil LC-CN column for chromatographic separation, and multiple reaction monitor (MRM) mode with electrospray ionization (ESI) for mass spectrometric detection. After optimized ID-LC/MS/MS parameters, imprecision, trueness, the limit of quantification (LoQ), the limit of detection (LoD), and measurement uncertainty were evaluated to check the methodological performance. The established method was employed in assigning values to EQA samples, which were sent to 63 clinical laboratories in Beijing to measure Hcy.</div></div><div><h3>Results</h3><div>At 10.69,15.99, and 37.80 μmol/L levels, the present method demonstrated analytical imprecision of 0.57 %, 0.65 %, and 0.57 %, and recoveries of 99.67 % to 100.21 %, respectively. The bias between the target values of GBW (Guojia Biaozhun Wuzhi) were − 0.79 % to 0.62 %. The LoQ and LoD for Hcy were 0.36 nmol/L and 0.27 nmol/L. The method had an uncertainty (U 95 %) of 1.34 % to 1.48 %. For the three levels of EQA samples, the percentage of laboratories meeting the trueness evaluation criteria (±10 %) was 81.67 %, 83.33 %, and 71.67 % respectively.</div></div><div><h3>Conclusions</h3><div>With optimal method precision and trueness, the ID-LC/MS/MS method to measure serum Hcy can be used for value assignment of EQA samples, which can provide reliable data for monitoring the accuracy of clinical laboratory for Hcy measurement.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567554","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}
Xiaoxiao Tang , Xiaoqian Ran , Zhiyuan Liang , Hongbin Zhuang , Xi Yan , Chengyun Feng , Ayesha Qureshi , Yan Gao , Liming Shen
{"title":"Screening biomarkers for autism spectrum disorder using plasma proteomics combined with machine learning methods","authors":"Xiaoxiao Tang , Xiaoqian Ran , Zhiyuan Liang , Hongbin Zhuang , Xi Yan , Chengyun Feng , Ayesha Qureshi , Yan Gao , Liming Shen","doi":"10.1016/j.cca.2024.120018","DOIUrl":"10.1016/j.cca.2024.120018","url":null,"abstract":"<div><h3>Background and aims</h3><div>Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. Early intervention is effective. Investigation of novel blood biomarkers of ASD facilitates early detection and intervention.</div></div><div><h3>Materials and Methods</h3><div>Sequential window acquisition of all theoretical spectra-mass spectrometry (SWATH-MS)-based proteomics technology and 30 DSM-V defined ASD cases versus age- and sex-matched controls were initially evaluated, and candidate biomarkers were screened using machine learning methods. Candidate biomarkers were validated by targeted proteomics multiple reaction monitoring (MRM) analysis using an independent group of 30 ASD cases vs. controls.</div></div><div><h3>Results</h3><div>Fifty-one differentially expressed proteins (DEPs) were identified by SWATH analysis. They were associated with the immune response, complements and coagulation cascade pathways, and apolipoprotein-related metabolic pathways. Machine learning analysis screened 10 proteins as biomarker combinations (TFRC, PPBP, APCS, ALDH1A1, CD5L, SPARC, FGG, SHBG, S100A9, and PF4V1). In the MRM analysis, four proteins (PPBP, APCS, FGG, and PF4V1) were significantly different between the groups, and their combination as a screening indicator showed high potential (AUC = 0.8087, 95 % confidence interval 0.6904–0.9252, <em>p</em> < 0.0001).</div></div><div><h3>Conclusions</h3><div>Our study provides data that suggests that a few plasma proteins have potential use in screening for ASD.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557292","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}
Xingyu Shi , Wenbin Zheng , Binhong He , Longhui Huang , Qisheng Zhong , Yunfan Yang , Ting Zhou , Yong Huang
{"title":"UPLC-Q-TOF/MS-based urine metabolomics for the diagnosis and staging of bladder cancer","authors":"Xingyu Shi , Wenbin Zheng , Binhong He , Longhui Huang , Qisheng Zhong , Yunfan Yang , Ting Zhou , Yong Huang","doi":"10.1016/j.cca.2024.120022","DOIUrl":"10.1016/j.cca.2024.120022","url":null,"abstract":"<div><h3>Background</h3><div>Bladder cancer (BC) is a common malignant tumour of the urinary system. Currently, the gold standard for diagnosing BC is cystoscopy, but it is an invasive examination that can lead to a certain psychological burden on the patient. In this study, we aimed to identify non-invasive potential metabolic biomarkers that could improve the diagnostic accuracy of bladder cancer.</div></div><div><h3>Methods</h3><div>Urine from 30 healthy people and 50 BC patients, including 40 non-muscle-invasive bladder cancer (NMIBC) patients and 10 muscle-invasive bladder cancer (MIBC) patients, were analyzed by liquid chromatography coupled with mass spectrometry to identify potential diagnostic metabolites. Binary Logistic regression was used to construct biomarker panels. Correlation analysis and construction of compound-reaction-enzyme-gene network were also performed to explore the possible mechanisms of BC development.</div></div><div><h3>Results</h3><div>Twenty-six metabolites were identified for differentiating BC patients from healthy controls, and eight metabolites were identified for differentiating NMIBC patients form MIBC patients. The biomarker panel consisting of urate, 4-Androstene-3α, 17β-diol and 3-Indoxyl sulfate can distinguish well between BC patients and healthy controls, with an area under the ROC curve (AUC) value of 0.983. And the biomarker panel consisting of L-Octanoylcarnitine, γ-Glutamylleucine, and heptanoylcarnitine for distinguishing NMIBC patients from MIBC patients had an AUC value of 0.941.</div></div><div><h3>Conclusions</h3><div>The diagnostic capability of the biomarker panels are superior to that of any single potential biomarker. This panel significantly benefits bladder cancer diagnostics and reveals insight into bladder cancer pathogenesis.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544079","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}
Beatrice Campi , Valentina Vitelli , Federica Saponaro , Riccardo Zucchi , Ele Ferrannini , Alessandro Saba
{"title":"HPLC-MS/MS method for simultaneous analysis of plasma 2-hydroxybutyrate and 2-hydroxyisobutyrate: Development and clinical significance","authors":"Beatrice Campi , Valentina Vitelli , Federica Saponaro , Riccardo Zucchi , Ele Ferrannini , Alessandro Saba","doi":"10.1016/j.cca.2024.120023","DOIUrl":"10.1016/j.cca.2024.120023","url":null,"abstract":"<div><div>Recent studies have identified relationships between diabetes mellitus and short-chain fatty acids, including 2-hydroxybutyrate (2-HB) and 2-hydroxyisobutyrate (2-HiB); 2-HB has been associated to the early stages of insulin resistance, while 2-HiB with the risk and progression of complications of Type 1 diabetes. Their metabolism and pathophysiological role in humans are not fully clarified.</div><div>The possible association between 2-HB and 2-HiB and diabetes mellitus was investigated with a novel mass spectrometry-based assay, capable of discriminating plasma 2-HiB and 2-HB from their HB isomers. Accuracy and precision (RSD%) were always in the range 99–102% and 0.7–3.5%, respectively. The study involved samples from subjects with normal glucose tolerance (NGT) and Type 2 diabetes (T2D), originally included in a multicenter study investigating mechanisms involved in atherothrombosis.</div><div>NGT subjects exhibited concentrations of 2-HB and 2-HiB of 61 (36) and 3.1 (1.9) µmol/L, median (interquartile range), respectively, that were significantly lower than those of the T2D patients, whose values were 74 (4.0) and 3.8 (2.9) µmol/L, respectively. The pattern of association of these molecules with clinical and metabolic variables is partially different: both compounds were directly related to male sex, BMI, HbA<sub>1c</sub>, and plasma glucose, 2-HiB also with age, systolic blood pressure, and HDL-cholesterol. Furthermore, they correlate with free fatty acids, glycerol, and triglyceride concentrations, but the latter correlation was negative for 2-HB and positive for 2-HiB.</div><div>Results confirmed the clinical significance of 2-HB and 2-HiB, in differential association with metabolic features of T2D.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544080","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}
Yan Xu , Ming Li , Renyi Hua , Xu Han , Yi Wu , Yiyao Chen , Xinrong Zhao , Li Gao , Niu Li , Jian Wang , Yanlin Wang , Shuyuan Li
{"title":"Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study","authors":"Yan Xu , Ming Li , Renyi Hua , Xu Han , Yi Wu , Yiyao Chen , Xinrong Zhao , Li Gao , Niu Li , Jian Wang , Yanlin Wang , Shuyuan Li","doi":"10.1016/j.cca.2024.120017","DOIUrl":"10.1016/j.cca.2024.120017","url":null,"abstract":"<div><h3>Objectives</h3><div>To evaluate the clinical utility of expanded carrier screening (ECS) in Chinese preconception and prenatal populations, focusing on carrier frequency and the impact on at-risk couples (ARCs).</div></div><div><h3>Methods</h3><div>Data from 6,298 Chinese individuals from 4,420 families who underwent a 149-gene ECS panel at a single center were analyzed. The prevalence of positive carriers and ARCs was determined, with follow-up on reproductive decisions and pregnancy outcomes for ARCs.</div></div><div><h3>Results</h3><div>Of the individuals screened, 2,673 (42.4 %) were carriers of at least one pathogenic or likely pathogenic variant, and 98 (2.22 %) ARCs were identified. <em>GJB2</em>-related deafness and Duchenne muscular dystrophy were the most common autosomal recessive (AR) and X-linked disorders. Screening the top 11 (gene carrier rate [GCR] ≥ 1/100), 22 (GCR ≥ 1/200), and 41 (GCR ≥ 1/331) AR genes could identify 53.5 %, 67.9 %, and 81.3 % of variants, respectively. The corresponding ratios for identified ARCs were 90.4 %, 94.0 %, and 100 %. Follow-up data from 80 ARCs indicated that 75.0 % (60/80) took significant action based on the ECS results. Additionally, four families (3.5 %, 4/115) were identified at risk for a second disease unrelated to their initial family monogenic history.</div></div><div><h3>Conclusions</h3><div>This study, representing the largest cohort of a moderate-sized ECS panel test in the Chinese population, demonstrates the clinical utility of ECS in both healthy individuals and those with a family history of monogenic disorders. The data obtained provide valuable insights for developing a Chinese-specific ECS panel. Tailored approaches are critical for wider adoption and successful routine application of ECS.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496142","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":"Human cystatin C in fibrotic diseases","authors":"Gilles Lalmanach , Baptiste Rigoux , Alexis David , Mounia Tahri-Joutey , Fabien Lecaille , Sylvain Marchand-Adam , Ahlame Saidi","doi":"10.1016/j.cca.2024.120016","DOIUrl":"10.1016/j.cca.2024.120016","url":null,"abstract":"<div><div>Human cystatin C (hCC), which has a pervasive distribution within body fluids and is ubiquitously expressed by numerous cells and tissues, is a highly potent extracellular inhibitor of cysteine proteases. Besides measurement of serum creatinine, which is the most widely used technique for appraising glomerular filtration rate (GFR), hCC has emerged as a relevant GFR biomarker, because its quantification in serum is less sensitive to interferences with factors such as age, muscle mass or diet. Moreover, there are growing body of evidence that hCC overexpression and/or oversecretion, which is primarily driven by TGF-β1, occur during fibrogenesis (cardiac, liver, oral, and lung fibrosis). Even though molecular mechanisms and signaling pathways governing the regulation of hCC remain to be deciphered more acutely, current data sustain that hCC expression relates to myofibrogenesis and that hCC could be a specific and valuable biomarker of fibrotic disease.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}