Annals of Laboratory Medicine最新文献

{"title":"Limited Contribution of Creatine Kinase-Myocardial Band Alongside High-Sensitivity Cardiac Troponin in Diagnosing Acute Myocardial Infarction in an Emergency Department.","authors":"Hyeyoung Lee, Hyunhye Kang, Hyojin Chae, Eun-Jee Oh","doi":"10.3343/alm.2024.0083","DOIUrl":"10.3343/alm.2024.0083","url":null,"abstract":"<p><p>Cardiac biomarkers, especially high-sensitivity cardiac troponin C or I (hs-cTnC or hs-cTnI, respectively), are vital for diagnosing acute myocardial infarction (AMI). Despite the specificity of hs-cTn as a biomarker, the creatine kinase-myocardial band (CK-MB) is commonly used alongside hs-cTn in emergency departments (EDs). We analyzed 23,771 simultaneous hs-cTn (hs-cTnT or hs-cTnI) and CK-MB requests for 17,185 patients in tertiary hospital ED in 2022. The objective of this study was to assess their practical value in diagnosing AMI in real-world settings. Among all 17,185 patients tested, 98.0% underwent hs-cTnT and CK-MB tests, and substantially fewer underwent hs-cTnI testing. We observed concordance between the initial hs-cTn and CK-MB results in 71.3% of patients. Of 131 AMI cases, 57 were positive for both biomarkers, 63 for hs-cTn only, and none for CK-MB alone. CK-MB positivity was often found in the absence of AMI. Discrepancies between the hs-cTnT and hs-cTnI results occurred in 30.0% of patients. Indiscriminate CK-MB testing for diagnosing AMI in EDs should be reconsidered. Efficient use of CK-MB is important for reducing costs and ensuring optimal patient care.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"586-590"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442033","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":"Aberrant Splicing in <i>PKD2</i> in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease.","authors":"Soo-Young Yoon, Jin Sug Kim, Kyung Sun Park","doi":"10.3343/alm.2024.0221","DOIUrl":"10.3343/alm.2024.0221","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"621-624"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016229","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":"Quantitative Evaluation of the Real-World Harmonization Status of Laboratory Test Items Using External Quality Assessment Data.","authors":"Sollip Kim, Tae-Dong Jeong, Kyunghoon Lee, Jae-Woo Chung, Eun-Jung Cho, Seunghoo Lee, Sail Chun, Junghan Song, Won-Ki Min","doi":"10.3343/alm.2024.0082","DOIUrl":"10.3343/alm.2024.0082","url":null,"abstract":"<p><strong>Background: </strong>In recent decades, the analytical quality of clinical laboratory results has substantially increased because of collaborative efforts. To effectively utilize laboratory results in applications, such as machine learning through big data, understanding the level of harmonization for each test would be beneficial. We aimed to develop a quantitative harmonization index that reflects the harmonization status of real-world laboratory tests.</p><p><strong>Methods: </strong>We collected 2021-2022 external quality assessment (EQA) results for eight tests (HbA1c, creatinine, total cholesterol, HDL-cholesterol, triglyceride, alpha-fetoprotein [AFP], carcinoembryonic antigen [CEA], and prostate-specific antigen [PSA]). This EQA was conducted by the Korean Association of External Quality Assessment Service, using commutable materials. The total analytical error of each test was determined according to the bias% and CV% within peer groups. The values were divided by the total allowable error from biological variation (minimum, desirable, and optimal) to establish a real-world harmonization index (RWHI) at each level (minimum, desirable, and optimal). Good harmonization was arbitrarily defined as an RWHI value ≤ 1 for the three levels.</p><p><strong>Results: </strong>Total cholesterol, triglyceride, and CEA had an optimal RWHI of ≤ 1, indicating an optimal harmonization level. Tests with a desirable harmonization level included HDL-cholesterol, AFP, and PSA. Creatinine had a minimum harmonization level, and HbA1c did not reach the minimum harmonization level.</p><p><strong>Conclusions: </strong>We developed a quantitative RWHI using regional EQA data. This index may help reflect the actual harmonization level of laboratory tests in the field.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"529-536"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141449472","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":"Laboratory Data as a Potential Source of Bias in Healthcare Artificial Intelligence and Machine Learning Models.","authors":"Hung S Luu","doi":"10.3343/alm.2024.0323","DOIUrl":"https://doi.org/10.3343/alm.2024.0323","url":null,"abstract":"Artificial intelligence (AI) and machine learning (ML) are anticipated to transform the practice of medicine. As one of the largest sources of digital data in healthcare, laboratory results can strongly influence AI and ML algorithms that require large sets of healthcare data for training. Embedded bias introduced into AI and ML models not only has disastrous consequences for quality of care but also may perpetuate and exacerbate health disparities. The lack of test harmonization, which is defined as the ability to produce comparable results and the same interpretation irrespective of the method or instrument platform used to produce the result, may introduce aggregation bias into algorithms with potential adverse outcomes for patients. Limited interoperability of laboratory results at the technical, syntactic, semantic, and organizational levels is a source of embedded bias that limits the accuracy and generalizability of algorithmic models. Population-specific issues, such as inadequate representation in clinical trials and inaccurate race attribution, not only affect the interpretation of laboratory results but also may perpetuate erroneous conclusions based on AI and ML models in the healthcare literature.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"2 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142489735","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":"Interinstitutional Comparison of Vancomycin Area Under the Concentration-Time Curve Estimation in Korea: Need for Standardized Operational Protocols for Therapeutic Drug Monitoring Consultation.","authors":"Hyun-Ki Kim,Mikyoung Park,Jong Do Seo,Tae-Dong Jeong,Misuk Ji","doi":"10.3343/alm.2024.0218","DOIUrl":"https://doi.org/10.3343/alm.2024.0218","url":null,"abstract":"Vancomycin, a vital antibiotic for treating gram-positive bacterial infections, requires therapeutic drug monitoring (TDM) because of its substantial pharmacokinetic variability. While traditional TDM relies on steady-state trough concentrations, recent guidelines advocate the area under the concentration-time curve (AUC) as the target index. However, detailed protocols for AUC estimation are lacking, leading to potential discrepancies among institutions. We surveyed medical institutions in Korea regarding vancomycin TDM, including AUC estimation. Nineteen participants responded to the TDM case challenge under three patient scenarios. For an ordinary patient in Case 1, the overall CV for AUC values was 0.4% when both trough and peak concentrations were included in the AUC calculation and 1.9% when utilizing only the trough concentration. For Case 2, an older patient with obesity, the corresponding CV was 6.6%. For Case 3 with multiple trough concentrations, the CV was 15.6%, reflecting variations in the selective use of data. Although the agreements in Case 1 were good, significant variability in AUC estimation was noted in cases involving atypical patient characteristics or old TDM data. Our study provides insight into the current status of vancomycin TDM in Korea and underscores the need for standardized operational protocols for AUC estimation.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"32 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142231342","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":"Educational Outcomes and Perception Changes in Medical Students After Visiting a Blood Donation Center.","authors":"Junseo Lee, Seryeong Kim, Sun Young Jeong, Seug Yun Yoon, Namsu Lee, Jong-Ho Won, Jeong Won Shin, Soon Hyo Kwon, Min-Young Lee, Kyoung Ha Kim","doi":"10.3343/alm.2023.0355","DOIUrl":"10.3343/alm.2023.0355","url":null,"abstract":"<p><p>Educating primary care physicians about blood donation and transfusion is critical. The Division of Hematology and Oncology at Soonchunhyang University Seoul Hospital in Korea introduced an on-site educational program termed the Blood Donation Center Visiting Program in the clerkship education for final-year medical students. We evaluated the educational outcomes and changes in perception among medical students after the Blood Donation Center Visiting Program based on a survey. The program was implemented from 2021 to 2023. As part of the program, students visited a blood donation center each week, one group at a time. They gained practical knowledge about the blood donation process, and some students actively participated in blood donation. After the program, 287 students were eligible for an online survey of the program, of whom 203 participated in the survey. Among the 203 students, 126 (62.1%) donated blood during their visit to the blood donation center as part of the program, and 88.7% of the students reported an increase (from 71.4% to 90.1%) in their knowledge and willingness to donate blood. The on-site educational Blood Donation Center Visiting Program appears to have generated positive changes in perceptions among students and enhanced their knowledge about blood donation.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"455-458"},"PeriodicalIF":4.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11169775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139904884","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":"Clonal Distribution and Its Association With the Carbapenem Resistance Mechanisms of Carbapenem-Non-Susceptible <i>Pseudomonas aeruginosa</i> Isolates From Korean Hospitals.","authors":"Nayeong Kim, Seo Yeon Ko, Seong Yong Park, Seong Yeob Kim, Da Eun Lee, Ki Tae Kwon, Yu Kyung Kim, Je Chul Lee","doi":"10.3343/alm.2023.0369","DOIUrl":"10.3343/alm.2023.0369","url":null,"abstract":"<p><strong>Background: </strong>Carbapenem resistance in <i>Pseudomonas aeruginosa</i> is a serious global health problem. We investigated the clonal distribution and its association with the carbapenem resistance mechanisms of carbapenem-non-susceptible <i>P. aeruginosa</i> isolates from three Korean hospitals.</p><p><strong>Methods: </strong>A total of 155 carbapenem-non-susceptible <i>P. aeruginosa</i> isolates collected between 2011 and 2019 were analyzed for sequence types (STs), antimicrobial susceptibility, and carbapenem resistance mechanisms, including carbapenemase production, the presence of resistance genes, OprD mutations, and the hyperproduction of AmpC β-lactamase.</p><p><strong>Results: </strong>Sixty STs were identified in carbapenem-non-susceptible <i>P. aeruginosa</i> isolates. Two high-risk clones, ST235 (N=41) and ST111 (N=20), were predominant; however, sporadic STs were more prevalent than high-risk clones. The resistance rate to amikacin was the lowest (49.7%), whereas that to piperacillin was the highest (92.3%). Of the 155 carbapenem-non-susceptible isolates, 43 (27.7%) produced carbapenemases. Three metallo-β-lactamase (MBL) genes, <i>bla</i>_IMP-6 (N=38), <i>bla</i>_VIM-2 (N=3), and <i>bla</i>_NDM-1 (N=2), were detected. <i>bla</i>_IMP-6 was detected in clonal complex 235 isolates. Two ST773 isolates carried <i>bla</i>_NDM-1 and <i>rmtB</i>. Frameshift mutations in <i>oprD</i> were identified in all isolates tested, regardless of the presence of MBL genes. Hyperproduction of AmpC was detected in MBL gene-negative isolates.</p><p><strong>Conclusions: </strong>Frameshift mutations in <i>oprD</i> combined with MBL production or hyperproduction of AmpC are responsible for carbapenem resistance in <i>P. aeruginosa</i>. Further attention is required to curb the emergence and spread of new carbapenem-resistant <i>P. aeruginosa</i> clones.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"410-417"},"PeriodicalIF":4.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11169769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140020862","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":"Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.","authors":"Yeeun Shim, Jieun Seo, Seung-Tae Lee, Jong Rak Choi, Young-Chul Choi, Saeam Shin, Hyung Jun Park","doi":"10.3343/alm.2023.0437","DOIUrl":"10.3343/alm.2023.0437","url":null,"abstract":"<p><strong>Background: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1.</p><p><strong>Methods: </strong>We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer's dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM.</p><p><strong>Results: </strong>We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM. In our cohort, one <i>de novo</i> mosaic FSHD1 patient was successfully diagnosed with OGM. Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis.</p><p><strong>Conclusions: </strong>OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"437-445"},"PeriodicalIF":4.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11169776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140897133","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":"Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series.","authors":"Jiwon Yun, Dong Soon Lee, Sungyoung Lee, Hongseok Yun","doi":"10.3343/alm.2023.0444","DOIUrl":"10.3343/alm.2023.0444","url":null,"abstract":"<p><p>The term \"multiple primary (MP) cancers\" refers to the existence of more than one cancer in the same patient. The combination of MP cancers with hematological malignancies is relatively uncommon. In this study, we present five patients diagnosed with MP cancers concomitant with hematological malignancies. We comprehensively analyzed their clinical characteristics, cytogenetic profiles, and germline and somatic variants. As first primaries, two patients had solid cancer not followed by cytotoxic therapy and three had hematologic cancer, followed by cytotoxic therapy. The second primaries were all hematologic malignancies that did not meet the criteria for therapy-related myeloid neoplasm. Notably, two (40%) out of the five patients harbored pathogenic potential/presumed germline variants in cancer predisposition genes. Therefore, germline variant testing should be considered when MP cancers with hematological malignancies require consideration for related donor stem cell transplantation.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"446-449"},"PeriodicalIF":4.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11169767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140048647","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":"Association Between the Red Blood Cell Distribution Width and 30-Day Mortality in Intensive Care Patients Undergoing Cardiac Surgery: A Retrospective Observational Study Based on the Medical Information Mart for Intensive Care-IV Database.","authors":"Weiqiang Chen, Peiling Yu, Chao Chen, Shaoyan Cai, Junheng Chen, Chunqin Zheng, Chaojin Chen, Liangjie Zheng, Chunming Guo","doi":"10.3343/alm.2023.0345","DOIUrl":"10.3343/alm.2023.0345","url":null,"abstract":"<p><strong>Background: </strong>Millions of patients undergo cardiac surgery each year. The red blood cell distribution width (RDW) could help predict the prognosis of patients who undergo percutaneous coronary intervention or coronary artery bypass surgery. We investigated whether the RDW has robust predictive value for the 30-day mortality among patients in an intensive care unit (ICU) after undergoing cardiac surgery.</p><p><strong>Methods: </strong>Using the Medical Information Mart for Intensive Care-IV Database, we retrieved data for 11,634 patients who underwent cardiac surgery in an ICU. We performed multivariate Cox regression analysis to model the association between the RDW and 30-day mortality and plotted Kaplan-Meier curves. Subgroup analyses were stratified using relevant covariates. Receiver operating characteristic (ROC) curves were used to determine the predictive value of the RDWs.</p><p><strong>Results: </strong>The total 30-day mortality rate was 4.2% (485/11,502). The elevated-RDW group had a higher 30-day mortality rate than the normal-RDW group (<i>P</i>&0.001). The robustness of our data analysis was confirmed by performing subgroup analyses. Each unit increase in the RDW was associated with a 17% increase in 30-day mortality when the RDW was used as a continuous variable (adjusted hazard ratio=1.17, 95% confidence interval, 1.10-1.25). Our ROC results showed the predictive value of the RDW.</p><p><strong>Conclusions: </strong>An elevated RDW was associated with a higher 30-day mortality in patients after undergoing cardiac surgery in an ICU setting. The RDW can serve as an efficient and accessible method for predicting the mortality of patients in ICUs following cardiac surgery.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"401-409"},"PeriodicalIF":4.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11169773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140100917","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}