Clinical chemistry and laboratory medicine最新文献

{"title":"Simple flow cytometry method using a myeloma panel that easily reveals clonal proliferation of mature B-cells.","authors":"Mika Araki, Takayuki Mitsuhashi, Yoko Yatabe, Tomoko Arai, Hiromitsu Yokota, Hajime Okita, Masatoshi Sakurai, Nobuhiro Tsukada, Keisuke Kataoka, Hiromichi Matsushita","doi":"10.1515/cclm-2024-0359","DOIUrl":"10.1515/cclm-2024-0359","url":null,"abstract":"","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generative artificial intelligence (AI) for reporting the performance of laboratory biomarkers: not ready for prime time.","authors":"Laura Pighi, Davide Negrini, Giuseppe Lippi","doi":"10.1515/cclm-2024-0857","DOIUrl":"https://doi.org/10.1515/cclm-2024-0857","url":null,"abstract":"","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An ultrasensitive DNA-enhanced amplification method for detecting cfDNA drug-resistant mutations in non-small cell lung cancer with selective FEN-assisted degradation of dominant somatic fragments","authors":"Junhua Zhang, Yifei Li, Wei Huang, Gaoyuan Sun, Hongjun Ren, Min Tang","doi":"10.1515/cclm-2024-0614","DOIUrl":"https://doi.org/10.1515/cclm-2024-0614","url":null,"abstract":"Objectives Blood cell-free DNA (cfDNA) can be a new reliable tool for detecting epidermal growth factor receptor (<jats:italic>EGFR</jats:italic>) mutations in non-small cell lung cancer (NSCLC) patients. However, the currently reported cfDNA assays have a limited role in detecting drug-resistant mutations due to their deficiencies in sensitivity, stability, or mutation detection rate. Methods We developed an <jats:italic>Archaeoglobus fulgidus</jats:italic>-derived flap endonuclease (<jats:italic>Afu</jats:italic> FEN)-based DNA-enhanced amplification system of mutated cfDNA by designing a pair of hairpin probes to anneal with wild-type cfDNA to form two 5′-flaps, allowing for the specific cleavage of wild-type cfDNA by <jats:italic>Afu</jats:italic> FEN. When the dominant wild-type somatic cfDNA fragments were cleaved by structure-recognition-specific <jats:italic>Afu</jats:italic> FEN, the proportion of mutated cfDNA in the reaction system was greatly enriched. As the amount of mutated cfDNA in the system was further increased by PCR amplification, the mutation status could be easily detected through first-generation sequencing. Results In a mixture of synthetic wild-type and T790M <jats:italic>EGFR</jats:italic> DNA fragments, our new assay still could detect T790M mutation at the fg level with remarkably high sensitivity. We also tested its performance in detecting low variant allele frequency (VAF) mutations in clinical samples from NSCLC patients. The plasma cfDNA samples with low VAF (0.1 and 0.5 %) could be easily detected by DNA-enhanced amplification. Conclusions This system with enhanced amplification of mutated cfDNA is an effective tool used for the early screening and individualized targeted therapy of NSCLC by providing a rapid, sensitive, and economical way for the detection of drug-resistant mutations in tumors.","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":"1 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141863560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS.","authors":"Chris F Harrington, Geoff Carpenter, James P C Coverdale, Leisa Douglas, Craig Mills, Karl Willis, Michael L Schilsky","doi":"10.1515/cclm-2024-0213","DOIUrl":"https://doi.org/10.1515/cclm-2024-0213","url":null,"abstract":"<p><strong>Objectives: </strong>Assessment of Wilson disease is complicated, with neither ceruloplasmin, nor serum or urine copper, being reliable. Two new indices, accurate non-ceruloplasmin copper (ANCC) and relative ANCC were developed and applied to a cohort of 71 patients, as part of a Wilson Disease Registry Study.</p><p><strong>Methods: </strong>Elemental copper-protein speciation was developed for holo-ceruloplasmin quantitation using strong anion exchange chromatography coupled to triple quadrupole inductively coupled plasma mass spectrometry. The serum proteins were separated using gradient elution and measured at <i>m</i>/<i>z</i> 63 (⁶³Cu⁺) and 48 (³²S¹⁶O⁺) using oxygen reaction mode and Cu-EDTA as calibration standard. The ANCC was calculated by subtraction of the ceruloplasmin bound copper from the total serum copper and the RelANCC was the percentage of total copper present as the ANCC.</p><p><strong>Results: </strong>The accuracy of the holo-ceruloplasmin measurement was established using two certified reference materials, giving a mean recovery of 94.2 %. Regression analysis between the sum of the copper containing species and total copper concentration in the patient samples was acceptable (slope=0.964, intercept=0, r=0.987) and a difference plot, gave a mean difference for copper of 0.38 μmol/L. Intra-day precision for holo-ceruloplasmin at serum copper concentrations of 0.48 and 3.20 μmol/L were 5.2 and 5.6 % CV and the intermediate precision at concentrations of 0.80 and 5.99 μmol/L were 6.4 and 6.4 % CV, respectively. The limit of detection (LOD) and lower limit of quantification (LLOQ) for holo-ceruloplasmin were 0.08 and 0.27 μmol/L as copper, respectively.</p><p><strong>Conclusions: </strong>ANCC and Relative ANCC are important new diagnostic and monitoring biomarker indices for Wilson disease (WD).</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing value-based laboratory medicine.","authors":"Mario Plebani","doi":"10.1515/cclm-2024-0823","DOIUrl":"10.1515/cclm-2024-0823","url":null,"abstract":"<p><p>Following the COVID-19 pandemic, the concepts of value-based medicine (VBM) and value-based laboratory medicine (VBLM) are receiving increasing interest to improve the quality, sustainability and safety of healthcare. Laboratory medicine is well positioned to support the transition to value-based healthcare as it helps to improve clinical outcomes and healthcare sustainability by reducing the time to diagnosis, improving diagnostic accuracy, providing effective guidance for tailored therapies and monitoring, and supporting screening and wellness care. However, the perception of the value of laboratory medicine is still limited, to the extent that it has been defined a \"profession without a face\", often lacking visibility to patients and the public. In addition, in recent decades, clinical laboratories have sought to improve the ration between outcomes and costs by increasing efficiency and reducing the cost per test rather than improving clinical outcomes. The aim of this paper is to propose a 10-point manifesto for implementing value-based laboratory medicine in clinical practice.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers","authors":"Louise Michenaud, Nathanaël Marrié, Antoine Rimbert, Oriane Marmontel, Sybil Charrière, Charles Gibert, Caroline Bouveyron, Jade Mammi, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo","doi":"10.1515/cclm-2024-0587","DOIUrl":"https://doi.org/10.1515/cclm-2024-0587","url":null,"abstract":"Objectives Dysbetalipoproteinemia (DBL) is a combined dyslipidemia associated with an increased risk of atherosclerotic cardiovascular diseases mostly occurring in ε2ε2 subjects and infrequently in subjects with rare <jats:italic>APOE</jats:italic> variants. Several algorithms have been proposed to screen DBL. In this work, we compared the diagnostic performances of nine algorithms including a new one. Methods Patients were divided into 3 groups according to their <jats:italic>APOE</jats:italic> genotype: ε2ε2 (“ε2ε2”, n=49), carriers of rare variants (“APOEmut”, n=20) and non-carriers of ε2ε2 nor <jats:italic>APOE</jats:italic> rare variant (“controls”, n=115). The algorithms compared were those from Fredrickson, Sniderman, Boot, Paquette, De Graaf, Sampson, eSampson, Bea and ours, the “Hospices Civils de Lyon (HCL) algorithm”. Our gold standard was the presence of a ε2ε2 genotype or of a rare variant associated with triglycerides (TG) &gt;1.7 mmol/L. A replication in the UK Biobank and a robustness analysis were performed by considering only subjects with both TG and low-density lipoprotein-cholesterol (LDLc) &gt;90th percentile. Results Total cholesterol (TC)/ApoB and NHDLC/ApoB are the best ratios to suspect DBL. In ε2ε2, according to their likelihood ratios (LR), the most clinically efficient algorithms were the HCL, Sniderman and De Graaf’s. In APOEmut, Sniderman’s algorithm exhibited the lowest negative LR (0.07) whereas the HCL’s exhibited the highest positive LR (29). In both cohorts, the HCL algorithm had the best LR. Conclusions We proposed a powerful algorithm based on ApoB concentration and the routine lipid profile, which performs remarkably well in detecting ε2ε2 or <jats:italic>APOE</jats:italic> variant-related DBL. Additional studies are needed to further evaluate algorithms performances in DBL carriers of infrequent <jats:italic>APOE</jats:italic> variants.","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":"27 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141784391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The correlation between serum angiopoietin-2 levels and acute kidney injury (AKI): a meta-analysis.","authors":"Juncheng Zhang, Zhengjie Huang, Qin Lin, Weiping Hu, Hongbin Zhong, Fengling Zhang, Jiyi Huang","doi":"10.1515/cclm-2024-0365","DOIUrl":"https://doi.org/10.1515/cclm-2024-0365","url":null,"abstract":"<p><strong>Introduction: </strong>The correlation between serum angiopoietin-2 levels and acute kidney injury (AKI) is a topic of significant clinical interest. This meta-analysis aims to provide a comprehensive evaluation of this relationship.</p><p><strong>Content: </strong>A systematic search was conducted in PubMed, Embase, Web of Science, and Cochrane databases up to October 11, 2023. The included studies were evaluated using the Newcastle-Ottawa Scale (NOS) and Methodological Index for Non-Randomized Studies (MINORS). Weighted mean differences (WMD) and odds ratios (OR) were calculated using random-effects models. Sensitivity analysis, funnel plots, and Egger's test were used to assess the robustness and publication bias of the findings. Subgroup analyses were performed to explore potential variations between adults and children.</p><p><strong>Summary: </strong>Eighteen studies encompassing a total of 7,453 participants were included. The analysis revealed a significant elevation in serum angiopoietin-2 levels in patients with AKI compared to those without (WMD: 4.85; 95 % CI: 0.75 to 0.27; I²=93.2 %, p<0.001). Subgroup analysis indicated significantly higher angiopoietin-2 levels in adults with AKI (WMD: 5.17; 95 % CI: 3.51 to 6.83; I²=82.6 %, p<0.001), but not in children. Additionally, high serum angiopoietin-2 levels were associated with an increased risk of AKI (OR: 1.58; 95 % CI: 1.39 to 1.8; I²=89.1 %, p<0.001). Sensitivity analysis validated the robustness of these results, showing no substantial change in the overall effect size upon the exclusion of individual studies.</p><p><strong>Outlook: </strong>This meta-analysis supports a significant association between elevated serum angiopoietin-2 levels and increased risk of AKI. The observed differential association between adults and children highlights the need for further targeted research to understand these age-specific variations.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141445774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consensus statement on extracellular vesicles in liquid biopsy for advancing laboratory medicine.","authors":"Xingli Dong, Yusheng Lin, Kai Li, Gaofeng Liang, Xiaoyi Huang, Jingxuan Pan, Lu Wang, Dongmei Zhang, Tingjiao Liu, Tong Wang, Xiaomei Yan, Long Zhang, Xiaowu Li, Xiujuan Qu, Da Jia, Yong Li, Hao Zhang","doi":"10.1515/cclm-2024-0188","DOIUrl":"https://doi.org/10.1515/cclm-2024-0188","url":null,"abstract":"<p><p>Extracellular vesicles (EVs) represent a diverse class of nanoscale membrane vesicles actively released by cells. These EVs can be further subdivided into categories like exosomes and microvesicles, based on their origins, sizes, and physical attributes. Significantly, disease-derived EVs have been detected in virtually all types of body fluids, providing a comprehensive molecular profile of their cellular origins. As a result, EVs are emerging as a valuable addition to liquid biopsy techniques. In this collective statement, the authors share their current perspectives on EV-related research and product development, with a shared commitment to translating this newfound knowledge into clinical applications for cancer and other diseases, particularly as disease biomarkers. The consensus within this document revolves around the overarching recognition of the merits, unresolved questions, and existing challenges surrounding EVs. This consensus manuscript is a collaborative effort led by the Committee of Exosomes, Society of Tumor Markers, Chinese anti-Cancer Association, aimed at expediting the cultivation of robust scientific and clinically applicable breakthroughs and propelling the field forward with greater swiftness and efficacy.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venous blood collection systems using evacuated tubes: a systematic review focusing on safety, efficacy and economic implications of integrated vs. combined systems.","authors":"Marta Rigoni, Francesco Tessarolo","doi":"10.1515/cclm-2024-0460","DOIUrl":"10.1515/cclm-2024-0460","url":null,"abstract":"<p><p>Venous blood collection systems (VBCSs) are combinations of <i>in-vitro</i> diagnostics and medical devices, usually available as integrated set. However, purchasing and using a combination of devices from different sets is considered by clinical laboratories as an option to achieve specific sampling tasks or reduce costs. This systematic review aimed to retrieve available evidence regarding safety, efficacy, and economic aspects of VBCSs, focusing on differences between integrated and combined systems. The literature review was carried out in PubMed. Cited documents and resources made available by scientific organisations were also screened. Extracted evidence was clustered according to Quality/Efficacy/Performance, Safety, and Costs/Procurement domains and discussed in the current European regulatory framework. Twenty documents published between 2010 and 2021 were included. There was no evidence to suggest equivalence between combined and integrated VBCSs in terms of safety and efficacy. Scientific society's consensus documents and product standards report that combined VBCS can impact operators' and patients' safety. Analytical performances and overall efficacy of combined VBCSs are not guaranteed without whole system validation and verification. EU regulatory framework clearly allocates responsibilities for the validation and verification of an integrated VBCS, but not for combined VBCSs, lacking information about the management of product nonconformities and post-market surveillance. Laboratory validation of combined VBCS demands risk-benefit and cost-benefit analyses, a non-negligible organisational and economic burden, and investment in knowledge acquisition. Implications in terms of laboratory responsibility and legal liability should be part of a comprehensive assessment of safety, efficacy, and cost carried out during device procurement.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141327294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An immuno-DOT diagnostic assay for autoimmune nodopathy.","authors":"Alexandre Jentzer, Guillaume Taieb, Jérémie El Bechir, Thierry Vincent, Jérôme Joël Devaux","doi":"10.1515/cclm-2024-0510","DOIUrl":"https://doi.org/10.1515/cclm-2024-0510","url":null,"abstract":"<p><strong>Objectives: </strong>Autoimmune nodopathy (AN) is a life-threatening peripheral neuropathy mediated by four autoantibodies targeting axoglial cell adhesion molecules at the nodes of Ranvier: Neurofascin-155 (Nfasc155), PanNeurofascin (PanNfasc), Contactin-1 (CNTN1), and Contactin-associated protein 1 (CASPR1). Antibody detection is a strong biomarker for AN diagnosis and treatment monitoring. The aim of this study was to develop an immuno-dot assay (immuno-DOT) compatible with routine implementation in medical laboratories.</p><p><strong>Methods: </strong>This new approach was compared to standard techniques: indirect immunofluorescence assay, cell-based assay, and ELISA. Sensitivities (Se) and specificities (Sp) were calculated on a cohort composed of 58 patients diagnosed with AN, 50 seronegative patients with chronic inflammatory demyelinating polyradiculoneuropathy, 20 healthy controls, 30 patients with Guillain-Barré syndrome, 20 with monoclonal gammopathy and 20 with Charcot-Marie-Tooth disease. The patients were diagnosed with AN based on compatible electro-clinical arguments and at least two positive standard techniques.</p><p><strong>Results: </strong>Immuno-DOT sensitivities and specificities were Se=91 %, Sp=97 % for anti-Nfasc155; Se=80 %, Sp=94 % for anti-PanNfasc; Se=93 %, Sp=98 % for anti-CNTN1; and Se=87 %, Sp=94 % for anti-CASPR1. Immuno-DOT allowed the diagnosis within 3 h and the accurate follow-up of the immune reactivity and isotype, and dot intensity correlated with antibody titers following treatments. A longitudinal study indicated that immuno-DOT yielded reliable results even after six months of storage at -20 °C.</p><p><strong>Conclusions: </strong>The diagnostic performance of immuno-DOT was satisfactory and compatible with routine implementation in medical laboratories.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}