Critical reviews in clinical laboratory sciences最新文献

{"title":"From population-based to personalized laboratory medicine: continuous monitoring of individual laboratory data with wearable biosensors.","authors":"Abdurrahman Coskun, Irem Nur Savas, Ozge Can, Giuseppe Lippi","doi":"10.1080/10408363.2025.2453152","DOIUrl":"10.1080/10408363.2025.2453152","url":null,"abstract":"<p><p>Monitoring individuals' laboratory data is essential for assessing their health status, evaluating the effectiveness of treatments, predicting disease prognosis and detecting subclinical conditions. Currently, monitoring is performed intermittently, measuring serum, plasma, whole blood, urine and occasionally other body fluids at predefined time intervals. The ideal monitoring approach entails continuous measurement of concentration and activity of biomolecules in all body fluids, including solid tissues. This can be achieved through the use of biosensors strategically placed at various locations on the human body where measurements are required for monitoring. High-tech wearable biosensors provide an ideal, noninvasive, and esthetically pleasing solution for monitoring individuals' laboratory data. However, despite significant advances in wearable biosensor technology, the measurement capacities and the number of different analytes that are continuously monitored in patients are not yet at the desired level. In this review, we conducted a literature search and examined: (i) an overview of the background of monitoring for personalized laboratory medicine, (ii) the body fluids and analytes used for monitoring individuals, (iii) the different types of biosensors and methods used for measuring the concentration and activity of biomolecules, and (iv) the statistical algorithms used for personalized data analysis and interpretation in monitoring and evaluation.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"198-227"},"PeriodicalIF":6.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074133","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":"Laboratory test utilization and effect on clinical outcomes in a pediatric setting.","authors":"Ridwan B Ibrahim, Anil K Chokkalla, Adetoun A Ejilemele, Sridevi Devaraj","doi":"10.1080/10408363.2025.2494614","DOIUrl":"https://doi.org/10.1080/10408363.2025.2494614","url":null,"abstract":"<p><p>Given recent economic concerns, there has been pressure on the health-care system to improve efficiency, quality and reduce cost. The clinical laboratory is now under close scrutiny to adopt \"practicing to value\" which involves shifting its focus from performing many tests to performing only necessary tests. To achieve this, clinical laboratories have been implementing strategies for effective laboratory test utilization and participating in health outcome studies to provide evidenced-based insights on test utilization, clinical decision-making and policy improvements. It is essential to highlight the full spectrum of this additional role of the clinical laboratory to administrators, policy makers and other health-care stakeholders, as clinical laboratories are an easy target for economic restrictions. This review highlights how strategic stewardship implementation by a clinical laboratory improves clinical outcomes in a pediatric setting.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-8"},"PeriodicalIF":6.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976606","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 current state in liquid chromatography-mass spectrometry methods for quantifying kynurenine pathway metabolites in biological samples: a systematic review.","authors":"Md Munnaf Hossen, Bobbi Fleiss, Rosita Zakaria","doi":"10.1080/10408363.2025.2495160","DOIUrl":"https://doi.org/10.1080/10408363.2025.2495160","url":null,"abstract":"<p><p>Kynurenine pathway (KP) metabolites are implicated in various disorders, including Alzheimer's disease, schizophrenia, and adverse pregnancy outcomes. Simultaneous measurement of multiple KP metabolites offers valuable insight into the pathway's role in health and disease, would improve this relatively undeveloped field. This systematic review aim was to summarize the state of the art for measuring the eight key KP metabolites, using liquid chromatography-mass spectrometry (LC-MS), explicitly focusing on whether methods were validated using established guidelines with superior sensitivity and selectivity. We undertook a comprehensive review of the literature using the PRISMA guidelines. Our search uncovered 66 publications, and 39 qualified the defined key criteria. We summarized each publication's method development parameters, analytical design, and method performance specifications. We found notable variability in sample preparation techniques and analytical design across biological matrices, underscoring a lack of universally established and validated methods for KP metabolite quantification. We also identified significant gaps in the basic method evaluation. Our findings highlight that no single method has been evaluated for quantifying the eight key KP metabolites across three or more biological sample types, revealing a critical gap in the field. Our review emphasizes the need for robust analytical methods to quantify KP metabolites across multiple biological matrices, facilitating a better understanding of their roles in health and disease. Given the diversity of disorders involving the KP in the clinical testing lab, developing such methods will reduce diagnostic errors and advance KP metabolite research, supporting more precise, and personalized medical care.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-17"},"PeriodicalIF":6.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977776","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":"A review of laboratory practices for CSF oligoclonal banding and associated tests.","authors":"Victoria Higgins, Yu Chen, Mark S Freedman, Karina Rodriguez-Capote, Daniel R Beriault","doi":"10.1080/10408363.2025.2490166","DOIUrl":"https://doi.org/10.1080/10408363.2025.2490166","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune disorder affecting the central nervous system, often emerging in early adulthood and representing a leading cause of neurological disability in young adults. Diagnosing MS involves a combination of clinical assessment, imaging and laboratory tests, with cerebrospinal fluid (CSF)-specific immunoglobulin G (IgG) oligoclonal bands (OCB) being an important marker for fulfilling the dissemination in time criteria. A recent survey of Canadian clinical laboratories highlighted considerable variation in OCB reporting practices nationwide, spanning quality control (QC) practices, acceptable time limits between paired CSF and serum sample collections, protocols for reporting band counts, interpretation and reporting of mirrored patterns, testing panels, and interpretive thresholds. These inconsistencies impact patient care and the comparability of laboratory results across different laboratories. The Harmonized CSF Analysis for MS Investigation (hCAMI) subcommittee of the Canadian Society of Clinical Chemists Reference Interval Harmonization Working Group was established to generate recommendations for laboratory processes and reporting of CSF OCB and associated tests supporting MS diagnosis. This review serves as a foundation for these efforts, summarizing the available evidence in areas where practice variations have been noted. This review begins by examining current practices and guidelines for standardized quality assurance, including optimal QC materials, frequency, documentation, and participation in external quality assurance programs. The disparity between paired CSF and serum sample acceptability time limits was further examined by reviewing current practices and recommendations as well as compiling evidence on IgG synthesis, turnover rate, biological variation, and stability in CSF and serum samples. Additionally, this review addresses the lack of consensus on reporting the number of CSF-specific and CSF-serum matched bands, focusing on interpreter variability and clinical utility. Contributing factors and clinical implications of mirror patterns, including discussion on monoclonal gammopathies and cases of matched bands of differing staining intensity, is provided. Testing panel components including adjunctive CSF tests, such as the IgG index, to support MS investigations despite their absence from clinical guidelines is also discussed. This review also provides a comprehensive analysis of current practices, guidelines, and the evidence surrounding different cutoffs for IgG index and CSF-specific bands.</p><p><p>Finally, the review considers emerging biomarkers, such as the kappa free light chain index and serum neurofilament light chain, which show promise for MS diagnosis and management. This comprehensive review of current practices, guidelines, and evolving evidence will guide the hCAMI subcommittee's efforts to harmonize CSF OCB analysis and improve MS diagnosis.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-23"},"PeriodicalIF":6.6,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978477","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":"Rigorous validation of machine learning in laboratory medicine: guidance toward quality improvement.","authors":"Hunter A Miller, Roland Valdes","doi":"10.1080/10408363.2025.2488842","DOIUrl":"https://doi.org/10.1080/10408363.2025.2488842","url":null,"abstract":"<p><p>The application of artificial intelligence (AI) in laboratory medicine will revolutionize predictive modeling using clinical laboratory information. Machine learning (ML), a sub-discipline of AI, involves fitting algorithms to datasets and is broadly used for data-driven predictive modeling in various disciplines. The majority of ML studies reported in systematic reviews lack key aspects of quality assurance. In clinical laboratory medicine, it is important to consider how differences in analytical methodologies, assay calibration, harmonization, pre-analytical errors, interferences, and physiological factors affecting measured analyte concentrations may also affect the downstream robustness and reliability of ML models. In this article, we address the need for quality improvement and proper validation of ML classification models, with the goal of bringing attention to key concepts pertinent to researchers, manuscript reviewers, and journal editors within the field of pathology and laboratory medicine. Several existing predictive modeling guidelines and recommendations can be readily adapted to the development of ML models in laboratory medicine. We summarize a basic overview of ML and key points from current guidelines including advantages and pitfalls of applied ML. In addition, we draw a parallel between validation of clinical assays and ML models in the context of current regulatory frameworks. The importance of classification performance metrics, model explainability, and data quality along with recommendations for strengthening journal submission requirements are also discussed. Although the focus of this article is on the application of ML in laboratory medicine, many of these concepts extend into other areas of medicine and biomedical science as well.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-20"},"PeriodicalIF":6.6,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955362","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":"Cardiac troponin complexes and fragments: potential targets for improved clinical performance.","authors":"Sander A J Damen, Marc A Brouwer, Niels van Royen, Menko-Jan de Boer, Alan H B Wu, Xander M R van Wijk, G Etienne Cramer","doi":"10.1080/10408363.2025.2484954","DOIUrl":"https://doi.org/10.1080/10408363.2025.2484954","url":null,"abstract":"<p><p>High-sensitivity assays for cardiac troponin (cTn) have improved rule-out algorithms for acute myocardial infarction (AMI). However, reduced specificity specifically to AMI posed new clinical challenges. Studies involving the composition of troponin released into the circulation after injury may provide insights to improve specificity. In MI patients, cTnI primarily exists of cTnIC and truncated cTnTIC complexes. Larger-sized cTnT forms, as part of the cTnTIC complex, predominate with shorter ischemic time windows. Over time, mildly and heavily truncated cTnT forms increase, whereas for cTnI this is less certain. Targeting the central part of cTnT, the current high-sensitivity assay also identifies heavily truncated forms as seen in end-stage renal disease and after exercise. This review on composition of circulating troponin covers different populations and outlines first initiatives toward more specific assays by targeting larger-sized troponin forms.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-14"},"PeriodicalIF":6.6,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971680","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":"From fructose to the future: liver disease biomarkers and their prognostic value in acute liver failure.","authors":"Mitchell R McGill","doi":"10.1080/10408363.2025.2481081","DOIUrl":"https://doi.org/10.1080/10408363.2025.2481081","url":null,"abstract":"<p><p>Acute liver failure (ALF) is an uncommon but severe condition with high morbidity and mortality. Advances in supportive care have improved patient outcomes, but liver transplantation remains the only life-saving intervention in many cases. Unfortunately, healthy donor livers are in short supply. In addition, transplant recipients face several potentially fatal risks including organ rejection, biliary and vascular complications, and infection. It is therefore critical to accurately identify patients who need a new liver while sparing those who do not. This also needs to be done quickly, within the first few days of hospital admission, due to the rapid progression of ALF. Prognostic tools, like the Clichy criteria, the King's College Criteria (KCC), the model for end-stage liver disease (MELD) score, the Acute Liver Failure Study Group Prognostic Index (ALFSGPI), and others have been available for this purpose since at least the 1980s and are commonly used today, but their performance is imperfect, leading to many efforts over the last several decades - and especially in recent years - to identify new noninvasive biomarkers. This review begins with a description of the earliest liver function (e.g. the levulose [fructose] test) and liver injury (e.g. alkaline phosphatase [ALP] and alanine aminotransferase [ALT]) tests and continues through the most recent proposed biomarkers, with critical evaluation of the prognostic utility of each using the KCC and MELD as benchmarks for comparison. Overall, there is as-yet no single biomarker that clearly and consistently performs better than the latter tools, though many may modestly improve the performance of the KCC or MELD when used in combination with them. The search for a better, single biomarker is therefore likely to continue.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"1-18"},"PeriodicalIF":6.6,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729280","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":"Genetic variants of accessory proteins and G proteins in human genetic disease.","authors":"Miles D Thompson, Peter Chidiac, Pedro A Jose, Alexander S Hauser, Caroline M Gorvin","doi":"10.1080/10408363.2024.2431853","DOIUrl":"10.1080/10408363.2024.2431853","url":null,"abstract":"<p><p>We present a series of three articles on the genetics and pharmacogenetics of G protein- coupled receptors (GPCR). In the first article, we discuss genetic variants of the G protein subunits and accessory proteins that are associated with human phenotypes; in the second article, we build upon this to discuss \"G protein-coupled receptor (GPCR) gene variants and human genetic disease\" and in the third article, we survey \"G protein-coupled receptor pharmacogenomics\". In the present article, we review the processes of ligand binding, GPCR activation, inactivation, and receptor trafficking to the membrane in the context of human genetic disease resulting from pathogenic variants of accessory proteins and G proteins. Pathogenic variants of the genes encoding G protein α and β subunits are examined in diverse phenotypes. Variants in the genes encoding accessory proteins that modify or organize G protein coupling have been associated with disease; these include the contribution of variants of the regulator of G protein signaling (RGS) to hypertension; the role of variants of activator of G protein signaling type III in phenotypes such as hypoxia; the contribution of variation at the <i>RGS10</i> gene to short stature and immunological compromise; and the involvement of variants of G protein-coupled receptor kinases (GRKs), such as GRK4, in hypertension. Variation in genes that encode proteins involved in GPCR signaling are outlined in the context of the changes in structure and function that may be associated with human phenotypes.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"113-134"},"PeriodicalIF":6.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human telomere length detected by quantitative fluorescent in situ hybridization: overlooked importance and application.","authors":"Xinling Li, Dongsheng Hu, Ming Zhang, Wei Wang","doi":"10.1080/10408363.2024.2441733","DOIUrl":"10.1080/10408363.2024.2441733","url":null,"abstract":"<p><p>The technique of Quantitative Fluorescence <i>in Situ</i> Hybridization (Q-FISH) plays a crucial role in determining the length of telomeres for studies in molecular biology and cytogenetics. Throughout the years, the use of Q-FISH for measuring telomere length has made substantial contributions to research in aging, cancer, and stem cells. The objective of this analysis is to delineate the categorization, fundamental concepts, pros and cons, and safety measures of Q-FISH in telomere length analysis, encapsulate, and anticipate its principal uses across diverse human biomedical research fields.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"135-147"},"PeriodicalIF":6.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892747","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 role of immunophenotyping in common variable immunodeficiency: a narrative review.","authors":"Jana Neirinck, Malicorne Buysse, Ciel De Vriendt, Mattias Hofmans, Carolien Bonroy","doi":"10.1080/10408363.2024.2404842","DOIUrl":"10.1080/10408363.2024.2404842","url":null,"abstract":"<p><p>Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency (PID) characterized by an impaired immunoglobulin production, in association with an increased susceptibility to infections and a diversity of clinical manifestations. This narrative review summarizes immunophenotypic abnormalities in CVID patients and their relevance for diagnosis and disease classification. A comprehensive search across four databases - PubMED, Web of Science, EMBASE and Google Scholar - yielded 170 relevant studies published between 1988 and April 31, 2023. Over the past decades, the role of immunophenotyping in CVID diagnosis has become evident by identifying \"hallmark\" immunophenotypic aberrancies in patient subsets, with some now integrated in the consensus diagnostic criteria. Furthermore, the role of immunophenotyping in subclassifying CVID in relation to clinical presentation and prognosis has been extensively studied. Certain immunophenotypic patterns consistently correlate with clinical manifestations and/or subsets of CVID, particularly those associated with noninfectious complications (i.e. low switched memory B cells, shifts in follicular helper T cell subsets, low naïve CD4⁺ T cells, low regulatory T cells, and expansion of CD21low B cells, often associated with autoimmunity and/or splenomegaly). Also, efforts to associate subset levels of innate immune cells, such as Natural Killer (NK) cells, invariant (i)NKT cells, innate lymphoid cells (ILCs), and dendritic cells (DCs) to CVID complications are evident albeit in a lesser degree. However, inconsistencies regarding the role of flow cytometry in classification and prognosis persist, reflecting the disease complexity, but probably also cohort variations and methodological differences between published studies. This underscores the need for collaborative efforts to integrate emerging concepts, such as standardized flow cytometry and computational tools, for a more precise CVID classification approach. Additionally, recent studies suggest a potential value of (epi)genetic-based molecular assays to this effort.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":" ","pages":"65-84"},"PeriodicalIF":6.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371196","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}