Journal of Applied Laboratory Medicine最新文献_第7页

Large Language Models Lack Sufficient Performance to Provide Definitive Regulatory Guidance. 大型语言模型缺乏足够的性能来提供明确的监管指导。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-18 DOI: 10.1093/jalm/jfaf047

Ryan C Shean, Jonathan R Genzen, Nicholas C Spies

引用次数: 0

Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System. 快速全基因组测序作为一线测试可能会显著降低私人支付系统的急性护理成本。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-18 DOI: 10.1093/jalm/jfaf045

Christy Moore, Madison Arenchild, Bryce Waldman, Seema Rego, Stephen F Kingsmore, Justin Field, Jason Barnhart, Stephanie Nee, Russell Nofsinger

{"title":"Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System.","authors":"Christy Moore, Madison Arenchild, Bryce Waldman, Seema Rego, Stephen F Kingsmore, Justin Field, Jason Barnhart, Stephanie Nee, Russell Nofsinger","doi":"10.1093/jalm/jfaf045","DOIUrl":"https://doi.org/10.1093/jalm/jfaf045","url":null,"abstract":"Background: Genetic disorders are a leading contributor to morbidity and mortality in neonatal and pediatric intensive care units. Rapid whole-genome sequencing (rWGS) has demonstrated improved clinical outcomes and reduced costs of care. The objective of this study was to predict the effect of rWGS on healthcare spending if implemented as a first-line diagnostic test in the Blue Shield of California (BSC) private payer system.Methods: This study applied private payer reimbursement methods and rates to clinical outcomes of rWGS on pediatric inpatient care as determined by a previous study of publicly insured infants in Project Baby Bear. BSC patients who were clinically similar to the Project Baby Bear cohort were identified by matching on diagnosis-related group and severity of illness. Payment data from these BSC patients was used to estimate the financial impact of clinical outcomes resulting from rWGS testing in a commercially insured pediatric population.Results: The analysis estimated a reduction of $5.8 million to $7.8 million in inpatient payments due to an estimated 457 to 592 avoided inpatient days due to rWGS results. With an estimated cost of sequencing at $2.7 million for the entire cohort (n = 184), the financial impact of rWGS as a first-tier test in the intensive care unit resulted in estimated net savings to BSC of $16 730 to $28 061 per patient sequenced.Conclusions: Implementation of rWGS using the protocols established in Project Baby Bear is likely to result in significant reductions in healthcare spending among privately insured patients.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052851","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}

引用次数: 0

Evaluation of the Use of Plasma Preparation Tubes for HIV Viral Load Testing in Nigeria. 评价血浆制备管在尼日利亚用于HIV病毒载量检测。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-18 DOI: 10.1093/jalm/jfaf053

Azuka Patrick Okwuraiwe, Anthony Adeniyi, Oluwasegun Adesina Babaleye, Kazeem Osuolale, Rosemary Ajuma Audu

{"title":"Evaluation of the Use of Plasma Preparation Tubes for HIV Viral Load Testing in Nigeria.","authors":"Azuka Patrick Okwuraiwe, Anthony Adeniyi, Oluwasegun Adesina Babaleye, Kazeem Osuolale, Rosemary Ajuma Audu","doi":"10.1093/jalm/jfaf053","DOIUrl":"https://doi.org/10.1093/jalm/jfaf053","url":null,"abstract":"Background: Routine viral load (VL) monitoring of persons living with HIV (PLWH) on antiretroviral therapy (ART) is imperative for improving the long-term success of treatment. Due to a limited number of PCR laboratories, VL testing is centralized, requiring cold chain storage while transporting samples from remote healthcare centers to referral PCR laboratories, which is a major challenge. The Becton Dickinson (BD) Vacutainer® Plasma Preparation Tube (PPT) was designed to mitigate cold chain transport needs and secondary tube storage of plasma.Methods: This cross-sectional study assessed the suitability of PPTs for sample transportation in remote settings, in place of EDTA non-gel Vacutainers, eliminating the need for cold chain storage. Venous blood was collected from 115 PLWH into 3 Vacutainer tubes (1 EDTA and 2 PPT). The plasma obtained from the first PPT was assayed for HIV VL along with the plasma obtained from EDTA non-gel Vacutainer within 6 h on the COBAS 6800 (Roche Diagnostics) instrument. Samples from the second PPT were stored at room temperature (20 to 28°C) for 24 h before testing on the same instrument.Results: The Wilcoxon signed rank test and W statistic (P value 0.91) showed that VL results obtained from the EDTA were comparable to the PPT on the collection day, and after 24 h at room temperature. Sensitivity and specificity for same-day and 24-hour testing were both 100%.Conclusions: The BD Vacutainer PPT was shown to have similar VL results to the EDTA non-gel Vacutainer, and can therefore be deployed to remote settings for sample collection and transportation to PCR referral laboratories.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054348","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}

引用次数: 0

Plasma Cell Enrichment and New Genomic Approaches in Multiple Myeloma: A Scoping Review. 浆细胞富集和新的基因组方法在多发性骨髓瘤：范围综述。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-18 DOI: 10.1093/jalm/jfaf044

Juan Javier López Rivera, Natalia Gomez-Lopera, Diana Jennifer Moreno-Garcia, Rocío Orduz-Rodriguez, Juan F Combariza-Vallejo, Mario Isaza-Ruget

{"title":"Plasma Cell Enrichment and New Genomic Approaches in Multiple Myeloma: A Scoping Review.","authors":"Juan Javier López Rivera, Natalia Gomez-Lopera, Diana Jennifer Moreno-Garcia, Rocío Orduz-Rodriguez, Juan F Combariza-Vallejo, Mario Isaza-Ruget","doi":"10.1093/jalm/jfaf044","DOIUrl":"https://doi.org/10.1093/jalm/jfaf044","url":null,"abstract":"Background: Multiple myeloma (MM) is a genetically heterogeneous disease where specific genetic abnormalities have a significant impact on a patient's prognosis. Diagnostic and prognostic tools like fluorescence in situ hybridization (FISH), PCR, microarrays, and next-generation sequencing (NGS) have transformed MM management. However, the effectiveness of these techniques is often limited by the low concentration of plasma cells in bone marrow samples, which makes enrichment methods necessary. This review aims to clarify how these techniques enhance the detection of genetic abnormalities, reduce false-negative results, and facilitate more precise risk stratification for MM patients.Content: Following Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Review (PRISMA-ScR) guidelines, the literature on plasma cell separation methods used in genetic studies of MM was systematically identified and mapped. Searches were conducted in the Medline and Embase databases using a structured strategy, supplemented by manual searches on Google Scholar. Of 399 publications evaluated, 69 met the inclusion criteria; 37% utilized FISH and 19% demonstrated an increasing use of NGS. Plasma cell enrichment significantly improved diagnostic accuracy, increasing the detection rates of genetic abnormalities from 61% in non-enriched samples to 95.5% in enriched samples. While FISH remains the gold standard, emerging technologies such as NGS offer superior sensitivity and the ability to identify critical genetic alterations to refine molecular subtypes.Summary: Clinically significant genetic alterations are detected more frequently with plasma cell enrichment techniques, contributing to improved prognosis and treatment strategies for MM patients.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033906","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}

引用次数: 0

Enhancing Lupus Anticoagulant Testing with Machine Learning: Deep Neural Networks Match Expert Performance without the Need for Feature Selection. 用机器学习增强狼疮抗凝血测试：深度神经网络匹配专家性能而不需要特征选择。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-16 DOI: 10.1093/jalm/jfaf039

Jeffrey Wang, Rachel Leger, Dong Chen, Jansen Seheult

{"title":"Enhancing Lupus Anticoagulant Testing with Machine Learning: Deep Neural Networks Match Expert Performance without the Need for Feature Selection.","authors":"Jeffrey Wang, Rachel Leger, Dong Chen, Jansen Seheult","doi":"10.1093/jalm/jfaf039","DOIUrl":"https://doi.org/10.1093/jalm/jfaf039","url":null,"abstract":"Background: The lupus anticoagulant (LAC) is an important laboratory criterion in the diagnosis of antiphospholipid antibody syndrome. LAC testing at the Mayo Clinic Special Coagulation Laboratory includes up to 13 tests, which are interpreted by trained physicians to identify the presence of LAC and rule out anticoagulant interferences. This feasibility study explored the use of two deep neural network (DNN) architectures for multilabel classification of LAC profiles as a first step toward automating interpretation.Methods: Seven thousand two hundred and two retrospective cases were randomly split (64:16:20) for training, validation, and test, respectively. LAC positivity by dilute Russell's viper venom time (LAC-DRVVT) and activated partial thromboplastin time (LAC-APTT) and the presence of warfarin (WAR) and heparin (HEP) were adjudicated by one expert. DNN architectures included: single-output DNNs using domain-knowledge input feature selection and a single-column multioutput DNN using all 13 inputs.Results: Domain-knowledge-naïve multioutput DNN achieved similar or improved performance for all 4 label prediction tasks compared with domain knowledge optimized DNNs: F1 scores of 0.977 vs 0.968 for LAC-DRVVT, 0.954 vs 0.945 for LAC-APTT, 0.961 vs 0.957 for HEP, and 0.995 vs 0.977 for WAR, respectively.Conclusions: The comparable performance of the 4 domain knowledge optimized DNNs and the multioutput DNN using all 13 input features suggests that the DNN may learn feature importance or mapping to a task without explicit input selection. Given its relative simplicity and versatility, the multioutput DNN is the preferred choice for implementation in a clinical laboratory to standardize LAC diagnosis.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006280","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}

引用次数: 0

Pharmacogenomic Testing for CYP2C19 Variants among Stroke Patients Treated with Clopidogrel: Opportunity for the Clinical Laboratory? 氯吡格雷治疗脑卒中患者CYP2C19变异的药物基因组学检测：临床实验室的机会？

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-16 DOI: 10.1093/jalm/jfaf041

Alan H B Wu, Cody M Orahoske, Guanmin Chen, Jose Estabil, Kiang-Teck J Yeo

{"title":"Pharmacogenomic Testing for CYP2C19 Variants among Stroke Patients Treated with Clopidogrel: Opportunity for the Clinical Laboratory?","authors":"Alan H B Wu, Cody M Orahoske, Guanmin Chen, Jose Estabil, Kiang-Teck J Yeo","doi":"10.1093/jalm/jfaf041","DOIUrl":"https://doi.org/10.1093/jalm/jfaf041","url":null,"abstract":"Background: Clopidogrel is a widely used antiplatelet agent used to prevent adverse events for patients suffering from acute coronary syndromes and ischemic stroke. As a prodrug, clopidogrel must be converted to the active form through the enzyme cytochrome (CYP) P450 2C19 (among other enzymes). Individuals carrying a loss of function (LOF) allele (i.e., *2 and/or *3) have reduced pharmacologic efficacy. Ticagrelor is an alternative antiplatelet medication that is not a prodrug.Methods: We reviewed the Clopidogrel in High-Risk Patients with Acute Nondisabling Cerebrovascular Events (CHANCE2) Trial demonstrating the inferiority of clopidogrel dual therapy with aspirin vs ticagrelor dual therapy to prevent adverse events among patients suffering from a mild stroke among Chinese patients who carried a CYP2C19 LOF. We also summarized the pharmacogenomic testing policies within Chinese clinical laboratories after publication of this trial, and tabulated the CYP2C19 LOF allele frequencies among ancestries, as a criteria for justifying the expense required for establishing pharmacogenomic testing services for other populations.Results: The CHANCE2 trial showed that stroke patients carrying a CYP2C19 LOF allele(s) had a reduction of 1.6% for recurrent stroke for those treated with ticagrelor vs clopidogrel. The LOF allele frequency was highest among Pacific Island and Western and Central Asian (e.g., Han Chinese) patients and lowest among European, Latin, and Hispanic Latino patients.Conclusions: Pharmacogenomic testing for CYP2C19 variants is more economically justified for laboratories that serve a population enriched with CYP2C19 LOF alleles, than populations exhibiting a lower allele frequency. Within a clinical laboratory offering testing, restricting testing to certain populations is not ethical.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057648","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}

引用次数: 0

Evaluation of an Automated Workstation for Aliquoting Whole Blood from Primary Sample Tubes. 主样管全血aliquote自动化工作站的评价。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-12 DOI: 10.1093/jalm/jfaf035

Eric Zimmerman Zuckerman, Brian Dukek, Dee Hunsberger, Jennifer Faber, Eric Scheitz, Amanda Ward, Steven Erickson, Tom Hartman, Martha Yiglletu, Nikola Baumann, Paul Jannetto

{"title":"Evaluation of an Automated Workstation for Aliquoting Whole Blood from Primary Sample Tubes.","authors":"Eric Zimmerman Zuckerman, Brian Dukek, Dee Hunsberger, Jennifer Faber, Eric Scheitz, Amanda Ward, Steven Erickson, Tom Hartman, Martha Yiglletu, Nikola Baumann, Paul Jannetto","doi":"10.1093/jalm/jfaf035","DOIUrl":"https://doi.org/10.1093/jalm/jfaf035","url":null,"abstract":"Background: We evaluated the Tecan Fluent Mix and Pierce Workstation as an automated platform to aliquot directly from whole blood collection tubes. The Fluent Mix and Pierce Workstation uses the Tube Rotator™, an on-deck rotisserie, to keep whole blood in suspension, and 8 Piercing Tips™ to cross the pierceable caps of collection tubes to aliquot samples.Methods: We performed accuracy and precision testing by aliquoting residual whole blood specimens into an on-deck gravimetric scale. To test carryover, we aliquoted alternating blanks and high calibrators for several analytes and performed mass spectrometry on the blanks. We performed 168 runs over a 21-day period to test the robustness of the platform. We aliquoted and analyzed 2 batches of samples on both our clinical platform and the Mix and Pierce Workstation to check concordance.Results: We observed that the Fluent Mix and Pierce Workstation can aliquot 200 µL with 0.5% inaccuracy and 0.9%CV and can aliquot 300 µL with 0.1% inaccuracy and 0.7%CV. We were unable to detect any analyte carryover using mass spectrometry. We observed no hardware failures during the instrument stress test. Clinical comparison runs indicated that the performance of aliquots made on the Fluent Mix and Pierce Workstation was equivalent to that of aliquots made by our current clinical method.Conclusions: Overall, our evaluation showed that the Tecan Fluent Mix and Pierce Workstation is a viable platform for aliquoting whole blood for downstream work flows and can eliminate labor-intensive sample decapping and recapping in high-throughput settings.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021296","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}

引用次数: 0

Evaluating the Sensitivity, Selectivity, and Cross-Reactivity of Lateral Flow Immunoassay Xylazine Test Strips. 评价横向流动免疫法Xylazine试纸条的灵敏度、选择性和交叉反应性。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-04 DOI: 10.1093/jalm/jfaf037

Lena Scott, Katherine Davis, Ju Nyeong Park, Saman Majeed

{"title":"Evaluating the Sensitivity, Selectivity, and Cross-Reactivity of Lateral Flow Immunoassay Xylazine Test Strips.","authors":"Lena Scott, Katherine Davis, Ju Nyeong Park, Saman Majeed","doi":"10.1093/jalm/jfaf037","DOIUrl":"https://doi.org/10.1093/jalm/jfaf037","url":null,"abstract":"Background: The rise of xylazine-adulterated substances poses significant public health risks due to their severe side effects, creating an urgent need for reliable detection methods. Lateral flow immunoassay-based xylazine test strips (XTS) have emerged as a potential harm reduction tool for quick, easy, and field-based drug checking, but their effectiveness remains underexplored. Although commercial XTS from multiple vendors are available, the lack of regulatory standards raises concerns regarding their accuracy.Methods: This study evaluated the performance of commercially available XTS from 7 different vendors to investigate the interproduct comparison of sensitivity, precision, cross-reactivity, and stability over changes in human urine pH and extended storage under ambient and extreme temperature conditions.Results: All test strips maintained their sensitivity, reproducibility, and effectiveness despite urinary pH fluctuation and storage temperatures over 6 weeks. However, concentration-dependent false-positive results were observed when the strips were tested with drugs and adulterants commonly encountered in seized samples. Interfering compounds including lidocaine, levamisole, ketamine, methamphetamine, diphenhydramine, promethazine, and cetirizine displayed varying degrees of cross-reactivity with different XTS.Conclusions: This study underscores the variability in performance among commercially available XTS, highlighting their implications for use in harm reduction and forensic settings. While XTS are capable of detecting xylazine at low concentrations, the potential for false-positive results due to cross-reactivity with other drugs necessitates caution in their interpretation. Hence, XTS may serve as a viable harm reduction tool, provided that their cross-reactivity limitations are thoroughly documented and they are incorporated as part of a broader harm reduction strategy.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781491","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}

引用次数: 0

A Child with a Known Cancer Predisposition Syndrome and an Unusually Aggressive Clinical Course. 一个已知的癌症易感性综合征的儿童和一个异常侵袭性的临床过程。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-03 DOI: 10.1093/jalm/jfaf001

Maya Ball-Burack, Francisco A Perez, Natalie Waligorski, Shannon M Stasi, Bonnie L Cole, Rebecca Ronsley, Christina Lockwood, Sarah E Leary, Vera Paulson, Michelle A Ting

引用次数: 0

M Protein Interference in Renal Function Assays: A Quest for True Kidney Function. 肾功能检测中的M蛋白干扰：对真实肾功能的探索。

IF 1.8

Journal of Applied Laboratory Medicine Pub Date : 2025-04-03 DOI: 10.1093/jalm/jfaf028

Michelle P van der Helm, Brigitte A Wevers, Cees van Beek, Paul W Schenk, Angela Bikker-Koornneef

引用次数: 0