Clinical chemistry and laboratory medicine最新文献

{"title":"Preservation of urine specimens for metabolic evaluation of recurrent urinary stone formers.","authors":"Tomáš Šálek, Pavel Musil, Pieter Vermeersch, Rachel Marrington, Zeliha G Dikmen, Radka Poláchová, Ulrike Kipman, Timo T Kouri, Janne Cadamuro","doi":"10.1515/cclm-2024-0773","DOIUrl":"https://doi.org/10.1515/cclm-2024-0773","url":null,"abstract":"<p><strong>Objectives: </strong>Stability of concentrations of urinary stone-related metabolites was analyzed from samples of recurrent urinary stone formers to assess necessity and effectiveness of urine acidification during collection and storage.</p><p><strong>Methods: </strong>First-morning urine was collected from 20 adult calcium-stone forming patients at Tomas Bata Hospital in the Czech Republic. Urine samples were analyzed for calcium, magnesium, inorganic phosphate, uric acid, sodium, potassium, chloride, citrate, oxalate, and urine particles. The single-voided specimens were collected without acidification, after which they were divided into three groups for storage: samples without acidification (\"NON\"), acidification before storage (\"PRE\"), or acidification after storage (\"POST\"). The analyses were conducted on the day of arrival (day 0, \"baseline\"), or after storage for 2 or 7 days at room temperature. The maximum permissible difference (<i>MPD</i>) was defined as ±20 % from the baseline.</p><p><strong>Results: </strong>The urine concentrations of all stone-related metabolites remained within the 20 % <i>MPD</i> limits in NON and POST samples after 2 days, except for calcium in NON sample of one patient, and oxalate of three patients and citrate of one patient in POST samples. In PRE samples, stability failed in urine samples for oxalate of three patients, and for uric acid of four patients after 2 days. Failures in stability often correlated with high baseline concentrations of those metabolites in urine.</p><p><strong>Conclusions: </strong>Detailed procedures are needed to collect urine specimens for analysis of urinary stone-related metabolites, considering both patient safety and stability of those metabolites. We recommend specific preservation steps.</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":"141787402","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":"Establishment of ELISA-comparable moderate and high thresholds for anticardiolipin and anti-β2 glycoprotein I chemiluminescent immunoassays according to the 2023 ACR/EULAR APS classification criteria and evaluation of their diagnostic performance.","authors":"Polona Žigon, Nika Boštic, Aleš Ambrožič, Žiga Rotar, Elizabeta Blokar, Manca Ogrič, Saša Čučnik","doi":"10.1515/cclm-2024-0570","DOIUrl":"https://doi.org/10.1515/cclm-2024-0570","url":null,"abstract":"<p><strong>Objectives: </strong>Recently published 2023 ACR/EULAR APS classification criteria emphasize the importance of quantifying single-, double-, and triple-antiphospholipid antibody positivity, distinguishing between IgG and IgM isotypes, and delineating moderate/high levels of anticardiolipin (aCL) and anti-β2 glycoprotein I (anti-β2GPI) antibodies. We aimed to establish clinically important moderate/high thresholds for aCL and anti-β2GPI IgG/IgM chemiluminescent immunoassays (CLIA), in particular QUANTA Flash, comparable to our in-house ELISAs used for over two decades, and to evaluate their diagnostic performance.</p><p><strong>Methods: </strong>QUANTA Flash CLIA and in-house ELISAs were used to measure aCL and anti-β2GPI IgG/IgM. Moderate thresholds for QUANTA Flash CLIA were determined using a non-parametric approach, calculating a 99th percentile on serum samples from 139 blood donors, and by mirroring the diagnostic performance of in-house ELISA on 159 patient samples.</p><p><strong>Results: </strong>Thresholds for QUANTA Flash CLIA achieving diagnostic performance equivalent to in-house ELISAs were 40 CU for moderate and 80 CU for high levels for aCL and anti-β2GPI IgG and IgM. The assays showed good qualitative agreement, ranging from 76.10 to 91.19 %. When considering in-house ELISA results, 14 out of 80 (17.5 %) patients did not fulfill the new ACR/EULAR laboratory classification criteria, while 27 out of 80 (33.8 %) did not when considering QUANTA Flash CLIA results.</p><p><strong>Conclusions: </strong>We determined moderate and high thresholds for aCL and anti-β2GPI IgG and IgM detected with QUANTA Flash CLIA, aligning with long-established in-house ELISA thresholds. These thresholds are crucial for seamlessly integrating of the new 2023 ACR/EULAR classification criteria into future observational clinical studies and trials.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751292","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":"Implications of monoclonal gammopathy and isoelectric focusing pattern 5 on the free light chain kappa diagnostics in cerebrospinal fluid.","authors":"Malte J Hannich, Franz F Konen, Konrad Gag, Aiham Alkhayer, Seda N Türker, Kathrin Budde, Matthias Nauck, Ulrich Wurster, Alexander Dressel, Thomas Skripuletz, Marie Süße","doi":"10.1515/cclm-2023-1468","DOIUrl":"https://doi.org/10.1515/cclm-2023-1468","url":null,"abstract":"<p><strong>Objectives: </strong>Oligoclonal bands (OCB) analysis is the reference standard for detecting an intrathecal IgG synthesis. Alongside OCB, free light chains kappa (FLCκ) are considered an additional sensitive biomarker for determining patterns 2 or 3, indicating intrathecal Ig synthesis. However, kFLC IF is not suitable for detecting a monoclonal pattern 5. The primary aim of this study was to evaluate the impact of incorporating FLCκ analysis into routine cerebrospinal fluid (CSF) diagnostics instead of OCB testing on the rate of missed monoclonal IgG detection.</p><p><strong>Methods: </strong>A two-center retrospective biomarker study was conducted. OCB were identified using isoelectric focusing in polyacrylamide gels followed by silver staining or in agarose gels followed by immunofixation. FLCκ were quantified using nephelometry and FLCκ assay (Siemens).</p><p><strong>Results: </strong>Out of a combined total of 17,755 OCB analyses conducted between 2011 and 2021, a subset of 269 cases (1.5 %) exhibited pattern 5. 98 samples (36 %), which included 18 samples with intrathecal inflammation as determined by additional OCB pattern 2 were included in the FLCκ analysis. Of those, 16 (89 %) had intrathecal FLCκ synthesis.</p><p><strong>Conclusions: </strong>While FLCκ offers a promising avenue for detecting an intrathecal inflammation, the pattern 5, though rare, remains a valuable additional finding of OCB analysis. A combined approach of FLCκ and OCB analysis is recommended for a comprehensive assessment of the humoral intrathecal immune response.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747578","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":"Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?","authors":"Xiaoyan Huo, Xinyi Lu, Deyun Lu, Huili Liu, Yi Liu, Qianfeng Zhao, Yu Sun, Weiqian Dai, Wenjuan Qiu, Yongguo Yu, Yanjie Fan","doi":"10.1515/cclm-2024-0239","DOIUrl":"https://doi.org/10.1515/cclm-2024-0239","url":null,"abstract":"<p><strong>Objectives: </strong>Regions of homozygosity (ROH) could implicate uniparental disomy (UPD) on specific chromosomes associated with imprinting disorders. Though the algorithms for ROH detection in exome sequencing (ES) have been developed, optimal reporting thresholds and when to pursue confirmatory UPD testing for imprinting disorders remain in ambiguity. This study used a data-driven approach to assess optimal reporting thresholds of ROH in clinical practice.</p><p><strong>Methods: </strong>ROH analysis was performed using Automap in a retrospective cohort of 8,219 patients and a prospective cohort of 1,964 patients with ES data. Cases with ROH on imprinting-disorders related chromosomes were selected for additional methylation-specific confirmatory testing. The diagnostic yield, the ROH pattern of eventually diagnosed cases and optimal thresholds for confirmatory testing were analyzed.</p><p><strong>Results: </strong>In the retrospective analysis, 15 true UPD cases of imprinting disorders were confirmed among 51 suspected cases by ROH detection. Pattern of ROH differed between confirmed UPD and non-UPD cases. Maximized yield and minimized false discovery rate of confirmatory UPD testing was achieved at the thresholds of >20 Mb or >25 % chromosomal coverage for interstitial ROH, and >5 Mb for terminal ROH. Current recommendation by ACMG was nearly optimal, though refined thresholds as proposed in this study could reduce the workload by 31 % without losing any true UPD diagnosis. Our refined thresholds remained optimal after independent evaluation in a prospective cohort.</p><p><strong>Conclusions: </strong>ROH identified in ES could implicate the presence of clinically relevant UPD. This study recommended size and coverage thresholds for confirmatory UPD testing after ROH detection in ES, contributing to the development of evidence-based reporting guidelines.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632853","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":"Assessment of cardiovascular risk and physical activity: the role of cardiac-specific biomarkers in the general population and athletes.","authors":"Aldo Clerico, Martina Zaninotto, Alberto Aimo, Claudio Galli, Maria Teresa Sandri, Mario Correale, Ruggero Dittadi, Marco Migliardi, Antonio Fortunato, Lucia Belloni, Mario Plebani","doi":"10.1515/cclm-2024-0596","DOIUrl":"https://doi.org/10.1515/cclm-2024-0596","url":null,"abstract":"<p><p>The first part of this Inter-Society Document describes the mechanisms involved in the development of cardiovascular diseases, particularly arterial hypertension, in adults and the elderly. It will also examine how consistent physical exercise during adolescence and adulthood can help maintain blood pressure levels and prevent progression to symptomatic heart failure. The discussion will include experimental and clinical evidence on the use of specific exercise programs for preventing and controlling cardiovascular diseases in adults and the elderly. In the second part, the clinical relevance of cardiac-specific biomarkers in assessing cardiovascular risk in the general adult population will be examined, with a focus on individuals engaged in sports activities. This section will review recent studies that suggest a significant role of biomarkers in assessing cardiovascular risk, particularly the presence of cardiac damage, in athletes who participate in high-intensity sports. Finally, the document will discuss the potential of using cardiac-specific biomarkers to monitor the effectiveness of personalized physical activity programs (Adapted Physical Activity, APA). These programs are prescribed for specific situations, such as chronic diseases or physical disabilities, including cardiovascular diseases. The purposes of this Inter-Society Document are the following: 1) to discuss the close pathophysiological relationship between physical activity levels (ranging from sedentary behavior to competitive sports), age categories (from adolescence to elderly age), and the development of cardiovascular diseases; 2) to review in detail the experimental and clinical evidences supporting the role of cardiac biomarkers in identifying athletes and individuals of general population at higher cardiovascular risk; 3) to stimulate scientific societies and organizations to develop specific multicenter studies that may take into account the role of cardiac biomarkers in subjects who follow specific exercise programs in order to monitor their cardiovascular risk.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626135","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":"Correction of negative-interference from calcium dobesilate in the Roche sarcosine oxidase creatinine assay using CuO.","authors":"Meng Zhao, Jiabao Fan, Panpan Lv, Zhengqi Zhu, Zhen Zhao","doi":"10.1515/cclm-2024-0471","DOIUrl":"https://doi.org/10.1515/cclm-2024-0471","url":null,"abstract":"","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619498","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":"EFLM Task Force Preparation of Labs for Emergencies (TF-PLE) recommendations for reinforcing cyber-security and managing cyber-attacks in medical laboratories.","authors":"Giuseppe Lippi, Salome Akhvlediani, Janne Cadamuro, Elisa Danese, Luis García de Guadiana Romualdo, Herve Delacour, Emmanuel J Favaloro, Julien Favresse, Brandon M Henry, Snezana Jovicic, Marge Kütt, Laetitia Moreno Y Banuls, Tomris Ozben, Avi Peretz, Antonija Perovic, Jecko Thachil, Dogan Yucel, Mario Plebani","doi":"10.1515/cclm-2024-0803","DOIUrl":"https://doi.org/10.1515/cclm-2024-0803","url":null,"abstract":"<p><p>The healthcare systems are a prime target for cyber-attacks due to the sensitive nature of the information combined with the essential need for continuity of care. Medical laboratories are particularly vulnerable to cyber-attacks for a number of reasons, including the high level of information technology (IT), computerization and digitization. Based on reliable and widespread evidence that medical laboratories may be inadequately prepared for cyber-terrorism, a panel of experts of the Task Force Preparation of Labs for Emergencies (TF-PLE) of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) has recognized the need to provide some general guidance that could help medical laboratories to be less vulnerable and better prepared for the dramatic circumstance of a disruptive cyber-attack, issuing a number of consensus recommendations, which are summarized and described in this opinion paper.</p>","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619499","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":"Simplified preanalytical laboratory procedures for therapeutic drug monitoring (TDM) in patients treated with high-dose methotrexate (HD-MTX) and glucarpidase.","authors":"Franz L Knörnschild, Sven Liebig, Peggy Kießling, Monika Prpic, Tehyung Kim, Ulrich Keller, Kai Kappert, Stefan Schwartz, Amir Jahic","doi":"10.1515/cclm-2024-0523","DOIUrl":"10.1515/cclm-2024-0523","url":null,"abstract":"","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141598784","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}