Journal of Applied Laboratory Medicine最新文献

{"title":"Commentary on High HHV-6 Viral Load Detected in a CSF from an Adolescent Patient with Seizures.","authors":"Sharon M Geaghan","doi":"10.1093/jalm/jfae163","DOIUrl":"10.1093/jalm/jfae163","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"503-504"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Human Herpes Virus-6 Viral Load Detected in Cerebrospinal Fluid from an Adolescent Patient with Seizures.","authors":"Amy L Leber, Sophonie J Oyeniran, Huanyu Wang","doi":"10.1093/jalm/jfae164","DOIUrl":"10.1093/jalm/jfae164","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"497-502"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing Adherence to the PRISMA-DTA Guideline in Diagnostic Test Accuracy Systematic Reviews: A Five-Year Follow-up Analysis.","authors":"Jean-Paul Salameh, David Moher, Trevor A McGrath, Robert A Frank, Anahita Dehmoobad Sharifabadi, Nabil Islam, Eric Lam, Robert Adamo, Haben Dawit, Mohammed Kashif Al-Ghita, Brooke Levis, Brett D Thombs, Patrick M Bossuyt, Matthew D F McInnes","doi":"10.1093/jalm/jfae117","DOIUrl":"10.1093/jalm/jfae117","url":null,"abstract":"<p><strong>Background: </strong>We evaluated reporting of diagnostic test accuracy (DTA) systematic reviews using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-DTA and PRISMA-DTA for abstracts.</p><p><strong>Methods: </strong>We searched MEDLINE for recent DTA systematic reviews (September 2023-Mar 2024) to achieve a sample size of 100. Analyses evaluated adherence to PRISMA-DTA (and abstracts), on a per-item basis. Association of reporting with journal, country, impact factor (IF), index-test type, subspecialty area, use of supplemental material, PRISMA citation, word count, and PRISMA adoption was evaluated. Comparison to the baseline evaluation from 2019 was done. Protocol: https://doi.org/10.17605/OSF.IO/P25TE.</p><p><strong>Results: </strong>Overall adherence (n = 100) was 78% (20.3/26.0 items, SD = 2.0) for PRISMA-DTA and 52% (5.7/11.0 items, SD = 1.6) for abstracts. Infrequently reported items (<33% of studies): eligibility criteria, definitions for data extraction, synthesis of results, and characteristics of the included studies. Infrequently reported items in abstracts were characteristics of the included studies, strengths and limitations, and funding. Reporting completeness for full text was minimally higher in studies in higher IF journals [20.7 vs 19.8 items; 95% confidence interval (95%CI) (0.09; 1.77)], as well as studies that cited PRISMA [21.1 vs 20.1 items; 95%CI (0.04; 1.95)], or used supplemental material (20.7 vs 19.2 items; 95%CI (0.63; 2.35)]. Variability in reporting was not associated with author country, journal, abstract word count limitations, PRISMA adoption, structured abstracts, study design, subspecialty, open-access status, or index test. No association with word counts was observed among full text or abstracts. Compared to the baseline evaluation, reporting was improved for full texts [71% to 78%; 95%CI (1.18; 2.26)] but not for abstracts [50% to 52%; 95%CI (-0.20; 0.60)].</p><p><strong>Conclusions: </strong>Compared to the baseline evaluation published in 2019, we observed modest improved adherence to PRISMA-DTA and no improvement in PRISMA-DTA for abstracts reporting.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"416-431"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of Association between Vitamin D Genetic Polymorphism and Virological Characteristics of Hepatitis B Infection.","authors":"Jéssica C da Silva, Amanda R Caetano, Ana C da F Mendonça, Leticia de P Scalioni, Moyra M Portilho, Cristianne S Bezerra, Vanessa A Marques, Juliana C Miguel, Karis M P Rodrigues, Cláudia A P Ivantes, Lia L Lewis-Ximenez, Livia M Villar","doi":"10.1093/jalm/jfae151","DOIUrl":"10.1093/jalm/jfae151","url":null,"abstract":"<p><strong>Background: </strong>Exploring polymorphisms in vitamin D-related genes (VDR) within the Brazilian population provides a valuable model to contribute to the influence of the host genetic variants on chronic viral hepatitis B (CHB).</p><p><strong>Methods: </strong>126 CHB patients were enrolled in the current study and clinical, laboratory, and 25-hydroxyvitamin D [25(OD)D] level data were obtained. Four VDR (rs7975232, rs1544410, rs10735810, rs731236) and 2 vitamin D-binding protein/carrier globulin (GC) polymorphisms (rs4588 and rs7041) were determined using TaqMan assays and nucleotide sequencing. Association studies were conducted among viral infection parameters and the patient's genetic variants.</p><p><strong>Results: </strong>Most patients were male (52.38%) with a mean age of 44.28 (±14.24) years, self-identified as White (32.54%), and exhibited vitamin D insufficiency status (42.06%). The hepatitis B virus (HBV) genotype A was predominant (50%) and 62.7% of the patients had detectable HBV DNA levels ≤log10 3 IU/mL. A significant association was observed between HBV genotype A with ApaI and FokI single nucleotide polymorphisms. However, no statistical association between VDR polymorphisms and viral load, viral polymerase mutations, or vitamin D status was found. Vitamin D concentration did not correlate to HBV viral load.</p><p><strong>Conclusions: </strong>Most HBV-infected individuals presented vitamin D insufficiency, and VDR polymorphism was not associated with virological characteristics except with HBV genotype A, demonstrating that some human genetic signatures are related to HBV genotype distribution.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"380-391"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Performance of an N-Terminal Pro-B-Type Natriuretic Peptide Assay in Acute Heart Failure Diagnosis.","authors":"Lori B Daniels, Patience Ajongwen, Robert H Christenson, Carol L Clark, Deborah B Diercks, Gregory J Fermann, Sharon E Mace, Simon A Mahler, Peter S Pang, Zubaid Rafique, Michael S Runyon, James Tauras, Christopher R deFilippi","doi":"10.1093/jalm/jfae107","DOIUrl":"10.1093/jalm/jfae107","url":null,"abstract":"<p><strong>Background: </strong>We evaluated the Vitros® Immunodiagnostic Products N-terminal pro B-type natriuretic peptide (NT-proBNP) II assay for aiding in diagnosis of heart failure (HF) in patients with acute dyspnea.</p><p><strong>Methods: </strong>Serum concentrations of NT-proBNP were measured in patient samples from 20 emergency departments across the United States. Study endpoints included sensitivity, specificity, likelihood ratios, and predictive values for diagnosis of acute HF according to age-stratified cutoffs (450, 900, and 1800 pg/mL), and a rule-out age-independent cutoff (300 pg/mL). Additional measures were area under the curve (AUC) for receiver operating characteristic (ROC) curves. Results were also interpreted in patient subgroups with relevant comorbidities, and gray zone/intermediate assay values.</p><p><strong>Results: </strong>Of 2200 patients, 1095 (49.8%) were diagnosed with HF by clinical adjudication. Sensitivity and specificity for Vitros NT-proBNP II ranged from 84.0% to 92.1%, and 81.4% to 86.5%, respectively, within and across age groups, and positive predictive values were 80.4% to 85.7%. Using the rule-out cutoff, the negative predictive value was 97.9%, with a negative likelihood ratio of 0.02. In subgroups with comorbidities potentially affecting NT-proBNP concentrations, sensitivities ranged from 82.6% to 89.5%, and AUCs for ROC curves were 0.899 to 0.915.</p><p><strong>Conclusions: </strong>The Vitros NT-proBNP II assay demonstrated excellent clinical performance using age-stratified cutoffs along with other clinical information for supporting diagnosis of HF, and can rule out HF with a high negative predictive value using the age-independent cutoff. The assay retained utility in patient subgroups with conditions that influence NT-proBNP concentration, and for those with gray zone results.</p><p><strong>Clinicaltrials.gov registration number: </strong>NCT03548909.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"325-338"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"So I Guess I Am a Device? Making the Case for Professional Practice in the Context of the FDA's Final Rule on Laboratory-Developed Tests.","authors":"Andrew Bryan, Thomas E Grys, Erin H Graf","doi":"10.1093/jalm/jfae100","DOIUrl":"10.1093/jalm/jfae100","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"517-519"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinguishing Daratumumab from Endogenous Monoclonal Proteins in Serum from Multiple Myeloma Patients Using an Automated Mass Spectrometry System.","authors":"David Barnidge, Dhananjay Sakrikar, Tadeusz Kubicki, Benjamin A Derman, Andrzej J Jakubowiak, Gabriella Lakos","doi":"10.1093/jalm/jfae142","DOIUrl":"10.1093/jalm/jfae142","url":null,"abstract":"<p><strong>Background: </strong>Therapeutic monoclonal antibodies (t-mAbs) may interfere with electrophoresis-based methods used to monitor multiple myeloma (MM), which can create inaccurate results. Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry is an alternative to gels distinguishing between endogenous M-proteins and t-mAbs based on molecular mass.</p><p><strong>Methods: </strong>Serum samples (n = 109) from 34 MM patients receiving Dara-KRd were collected 14 or 28 days postdaratumumab administration. Samples were analyzed using the EXENT® Analyzer that combines automated immunopurification and MALDI-TOF MS for the isotyping and quantification of monoclonal immunoglobulins.</p><p><strong>Results: </strong>Daratumumab was identified in 103 out of 109 samples (94.5%). In all IgGλ (n = 8), IgAκ (n = 8), and IgAλ (n = 2) patients, the M-protein and daratumumab were detected. Of the IgGκ patients (n = 18), 5 patients had a total of 6 samples where the M-protein was detected but daratumumab was not. There was no difference in the detection rate of daratumumab between samples taken 14 and 28 days postadministration with the median daratumumab concentration being 0.95 and 0.54 g/L, respectively. A precision study was also performed on 25 replicates containing 1 g/L daratumumab in serum where a coefficient of variation of 4.2% was observed as determined by the EXENT Analyzer.</p><p><strong>Conclusions: </strong>The Immunoglobulin Isotypes (GAM: IgG, IgA, and IgM) for the EXENT Analyzer detected and distinguished a daratumumab kappa light chain peak from an M-protein light chain peak in MM patient serum when resolved by the mass spectrometer.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"235-249"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FDA's Final Rule on Laboratory-Developed Tests: What Is the Impact on Clinical Pharmacogenomics in the United States?","authors":"Xander M R van Wijk, Gwendolyn A McMillin","doi":"10.1093/jalm/jfae105","DOIUrl":"10.1093/jalm/jfae105","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"510-513"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling Uncertainty: The Impact of Biological and Analytical Variation on the Prediction Uncertainty of Categorical Prediction Models.","authors":"Remy J H Martens, William P T M van Doorn, Mathie P G Leers, Steven J R Meex, Floris Helmich","doi":"10.1093/jalm/jfae115","DOIUrl":"10.1093/jalm/jfae115","url":null,"abstract":"<p><strong>Background: </strong>Interest in prediction models, including machine learning (ML) models, based on laboratory data has increased tremendously. Uncertainty in laboratory measurements and predictions based on such data are inherently intertwined. This study developed a framework for assessing the impact of biological and analytical variation on the prediction uncertainty of categorical prediction models.</p><p><strong>Methods: </strong>Practical application was demonstrated for the prediction of renal function loss (Chronic Kidney Disease Epidemiology Collaboration [CKD-EPI] equation) and 31-day mortality (advanced ML model) in 6360 emergency department patients. Model outcome was calculated in 100 000 simulations of variation in laboratory parameters. Subsequently, the percentage of discordant predictions was calculated with the original prediction as reference. Simulations were repeated assuming increasing levels of analytical variation.</p><p><strong>Results: </strong>For the ML model, area under the receiver operating characteristic curve (AUROC), sensitivity, and specificity were 0.90, 0.44, and 0.96, respectively. At base analytical variation, the median [2.5th-97.5th percentiles] percentage of discordant predictions was 0% [0%-28.8%]. In addition, 7.2% of patients had >5% discordant predictions. At 6× base analytical variation, the median [2.5th-97.5th percentiles] percentage of discordant predictions was 0% [0%-38.8%]. In addition, 11.7% of patients had >5% discordant predictions. However, the impact of analytical variation was limited compared with biological variation. AUROC, sensitivity, and specificity were not affected by variation in laboratory parameters.</p><p><strong>Conclusions: </strong>The impact of biological and analytical variation on the prediction uncertainty of categorical prediction models, including ML models, can be estimated by the occurrence of discordant predictions in a simulation model. Nevertheless, discordant predictions at the individual level do not necessarily affect model performance at the population level.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"339-351"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Total Prostate-Specific Antigen (PSA) Testing in Capillary Samples: Proof-of-Principle and Feasibility Study for Home Self-Testing for Prostate Cancer.","authors":"Ravinder Sodi, Noel Young, Alessandra Tetucci, Timothy Woolley, Vishal Shah, Isabella Maund","doi":"10.1093/jalm/jfae144","DOIUrl":"10.1093/jalm/jfae144","url":null,"abstract":"<p><strong>Background: </strong>There is growing interest in the use of capillary blood sampling (CBS) for testing biochemical analytes owing to the advantages it offers including home surveillance of chronic conditions. In this study, we aimed to determine whether the use of CBS was a viable and feasible method for testing total prostate-specific antigen (TPSA) concentrations in men with prostate disease.</p><p><strong>Methods: </strong>Men with known prostate disease were recruited from a urology clinic where they were being treated or followed up. Samples were collected in serum separating tubes by the finger-prick method using validated devices. Simultaneously, venous blood was collected by venipuncture. We used validated immunoassays on both the Roche (Cobas 801) and Beckman (DXi) platforms to measure TPSA.</p><p><strong>Results: </strong>In total, 66 adult men between 26 and 64 years of age were tested. Across the concentration range of normal (0.3 µg/L) to pathological (314 µg/L), the results between CBS and venous samples were highly comparable and correlated (r = 0.997). The average bias was 0.112 µg/L or 1.07% and was not significant (P = 0.274). Overall, there was no apparent proportional or constant bias observed. Our data showed that TPSA may be stable in CBS stored at ambient temperature for up to 8 days in the samples tested using either the Roche or Beckman assays.</p><p><strong>Conclusions: </strong>This feasibility study shows that CBS and venous samples are highly correlated and there was negligible bias. Further validation work is now required for the measurement of TPSA in CBS and determining outcomes in men with prostate disease.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"250-258"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}