Current Issue
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Opinion2024-11-01 Laboratory Informatics
Customized Quality Assessment of Healthcare Data
Jieun Shin , Ph.D. and Jong-Yeup Kim , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 472-477 -
Original Article2024-11-01 Diagnostic Hematology
Integration of an MC-80 Digital Image Analyzer With an Automated BC-6800Plus Hematology Analyzer Enables Accurate Platelet Counting in Samples With EDTA-Induced Pseudothrombocytopenia
Min-Kyung So , M.D., Jungwon Huh , M.D., Seunghwan Kim , M.D., and Sholhui Park , M.D.
Ann Lab Med 2024; 44(6): 478-486Abstract : Background: EDTA-induced pseudothrombocytopenia (PTCP) during whole blood collection requires significant laboratory resources to obtain accurate results. We evaluated platelet-deaggregation function in EDTA-induced PTCP and platelet-clump flagging by the BC-6800Plus hematology analyzer using integrated digital image analysis. Methods: We prospectively collected 132 whole blood samples suspected of platelet clumping (102 in EDTA and 30 in sodium citrate) from 88 individuals. We compared platelet counts determined using the platelet count by impedance (PLT-I) function of the DxH 900 hematology analyzer and the PLT-I or optical platelet count (PLT-O) function of the BC-6800Plus. Platelet clumping was verified through manual inspection and the MC-80 digital image analyzer. Results: Among the 132 whole blood samples, 43 EDTA samples showed platelet clumping. The DxH 900 PLT-I and BC-6800Plus PLT-I results demonstrated a strong correlation (r=0.711) for the EDTA samples but only a moderate correlation with the BC-6800Plus PLT-O results (r=0.506 and 0.545, respectively). The BC-6800Plus PLT-O results were consistent with the sodium citrate platelet counts, with a median dissociation rate of 102.5% (range, 74.9%–123.1%). The DxH 900 and BC-6800Plus analyzers had sensitivity values of 0.79 and 0.72, respectively, for platelet-clump flagging. When integrating the MC-80 digital image analysis results, the sensitivity of BC-6800Plus improved to 0.89 (standard mode) or 1.0 (PLT-Pro mode). Conclusions: BC-6800Plus PLT-O measurement results are close to the actual values obtained by platelet deaggregation with PTCP samples. Integrating the BC-6800Plus with a digital imaging analyzer effectively improved the diagnosis of PTCP and reduced the requirement for additional laboratory procedures.
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Original Article2024-11-01 Diagnostic Hematology
Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China
Zhenyi Huang , M.S., Ziyan Li , M.S., Yating Li , B.S., Yunshan Cao , B.S., Suping Zhong , B.S., Jinlu Liu , B.S., Zhiqian Lin , B.S., Lijuan Lin , B.S., Yanping Fang , B.S., Jing Zeng , B.S., Zhaoying Su , M.S., Huibin Li , B.S., Jianfen Liang , B.S., Biqing Zhu , M.S., Zipei Lin , B.S., Yongxin Huang , Ph.D., Xuexi Yang , Ph.D., and Lingxiao Jiang , Ph.D.
Ann Lab Med 2024; 44(6): 487-496Abstract : Background: Quantitative detection of glucose-6-phosphate dehydrogenase (G6PD) is commonly done to screen for G6PD deficiency. However, current reference intervals (RIs) of G6PD are unsuitable for evaluating G6PD-activity levels with local populations or associating G6PD variants with hemolysis risk to aid clinical decision-making. We explored appropriate RIs and clinical decision limits (CDLs) for G6PD activity in individuals from Guangzhou, China. Methods: We enrolled 5,852 unrelated individuals between 2020 and 2022 and screened their samples in quantitative assays for G6PD activity. We conducted further investigations, including G6PD genotyping, thalassemia genotyping, follow-up analysis, and statistical analysis, for different groups. Results: In Guangzhou, the RIs for the G6PD activities were 11.20–20.04 U/g Hb in male and 12.29–23.16 U/g Hb in female. The adjusted male median and normal male median (NMM) values were 15.47 U/g Hb and 15.51 U/g Hb, respectively. A threshold of 45% of the NMM could be used as a CDL to estimate the probability of G6PD variants. Our results revealed high hemolysis-risk CDLs (male:
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Original Article2024-11-01 Clinical Chemistry
Diagnostic Accuracy of Plasma Renin Concentration and Renin Activity in Predicting Mortality and Kidney Outcomes in Patients With Septic Shock and Hypoperfusion or Hypotension: A Multicenter, Prospective, Observational Study
Gun Tak Lee , M.D., Byuk Sung Ko , M.D., Da Seul Kim , M.D., Minha Kim , M.D., Jong Eun Park , M.D., Sung Yeon Hwang , M.D., Daun Jeong , M.D., Chi Ryang Chung , M.D., Hyunggoo Kang , M.D., Jaehoon Oh , M.D., Tae Ho Lim , M.D., Bora Chae , M.D., Won Young Kim , M.D., and Tae Gun Shin , M.D. on behalf of the Korean Shock Society
Ann Lab Med 2024; 44(6): 497-506Abstract : Background: Lactate is a commonly used biomarker for sepsis, although it has limitations in certain cases, suggesting the need for novel biomarkers. We evaluated the diagnostic accuracy of plasma renin concentration and renin activity for mortality and kidney outcomes in patients with sepsis with hypoperfusion or hypotension. Methods: This was a multicenter, prospective, observational study of 117 patients with septic shock treated at three tertiary emergency departments between September 2021 and October 2022. The accuracy of renin activity, renin, and lactate concentrations in predicting 28-day mortality, acute kidney injury (AKI), and renal replacement requirement was assessed using the area under the ROC curve (AUC) analysis. Results: The AUCs of initial renin activity, renin, and lactate concentrations for predicting 28-day mortality were 0.66 (95% confidence interval [CI], 0.55–0.77), 0.63 (95% CI, 0.52–0.75), and 0.65 (95% CI, 0.53–0.77), respectively, and those at 24 hrs were 0.74 (95% CI, 0.62–0.86), 0.70 (95% CI, 0.56–0.83), and 0.67 (95% CI, 0.54–0.79). Renin concentrations and renin activity outperformed initial lactate concentrations in predicting AKI within 14 days. The AUCs of renin and lactate concentrations were 0.71 (95% CI, 0.61–0.80) and 0.57 (95% CI, 0.46–0.67), respectively (P=0.030). The AUC of renin activity (0.70; 95% CI, 0.60–0.80) was also higher than that of lactate concentration (P=0.044). Conclusions: Renin concentration and renin activity show comparable performance to lactate concentration in predicting 28-day mortality in patients with septic shock but superior performance in predicting AKI.
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Original Article2024-11-01 Clinical Chemistry
Evaluating the Commutability of Reference Materials for α-Fetoprotein: Accurate Value Assignment With Multiple Systems and Trueness Verification
Jianping Zhang , M.M., Jing Zhao , M.M., Qingtao Wang , M.M., Rui Zhang , M.D., and Yuhong Yue , M.M.
Ann Lab Med 2024; 44(6): 507-517Abstract : Background: The accurate measurement of α-fetoprotein (AFP) is critical for clinical diagnosis. However, different AFP immunoassays may yield different results. Appropriate AFP reference materials (RMs) were selected and assigned accurate values for applications with external quality assessment (EQA) programs to standardize AFP measurements.Methods: Forty individual clinical samples and six different concentrations of candidate RMs (Can-RMs, L1–L6) were prepared by the Beijing Center for Clinical Laboratories. The Can-RMs were assigned target values by performing five immunoassays, using WHO International Standard 72/225 as a calibrator, and sent to 45 clinical laboratories in Beijing for AFP measurements. The commutability of all RMs was assessed based on CLSI and the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) approaches. Analytical performance was assessed for compliance based on accuracy (total error, TE), trueness (bias), and precision (CV).Results: The Can-RMs were commutable for all immunoassays using the CLSI approach and for 6 of 10 assay combinations using the IFCC approach. RMs diluted in WHO RM 72/225 were commutable among all assays with the CLSI approach, except for serum matrix (Autolumo vs. Roche analyzer) and diluted water matrix (Abbott vs. Roche/Mindray analyzer), whereas some inconclusive and non-commutable results were found using the IFCC approach. The average pass rates based on the TE, bias, and CV were 91%, 81%, and 95%, respectively.Conclusions: The commutability of the RMs differed between both evaluation approaches. The Can-RMs exhibited good commutability with the CLSI approach, suggesting their suitability for use with that approach as commutable EQA materials with assigned values and for monitoring the performance of AFP measurements.
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Original Article2024-11-01 Clinical Chemistry
Detecting M-Protein via Mass Spectrometry and Affinity Beads: Enrichment With Mixed Kappa-Lambda Beads Enables Prompt Application in Clinical Laboratories
Jikyo Lee , M.D., Jung Hoon Choi , M.S., Eun-Hee Kim , M.S., Jihyun Im , B.S., Heeyoun Hwang , Ph.D., Seojin Yang , B.S., Joon Hee Lee , M.D., Kyunghoon Lee , M.D., Junghan Song , M.D., Ph.D., Seungman Park , M.D., and Sang Hoon Song , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 518-528Abstract : Background: Detecting monoclonal protein (M-protein), a hallmark of plasma cell disorders, traditionally relies on methods such as protein electrophoresis, immune-electrophoresis, and immunofixation electrophoresis (IFE). Mass spectrometry (MS)-based methods, such as matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) and electrospray ionization-quadrupole time-of-flight (ESI-qTOF) MS, have emerged as sensitive methods. We explored the M-protein-detection efficacies of different MS techniques.Methods: To isolate immunoglobulin and light chain proteins, six types of beads (IgG, IgA, IgM, kappa, lambda, and mixed kappa and lambda) were used to prepare samples along with CaptureSelect nanobody affinity beads (NBs). After purification, both MALDI-TOF MS and liquid chromatography coupled with Synapt G2 ESI-qTOF high-resolution MS analysis were performed. We purified 25 normal and 25 abnormal IFE samples using NBs and MALDI-TOF MS (NB-MALDI-TOF).Results: Abnormal samples showed monoclonal peaks, whereas normal samples showed polyclonal peaks. The IgG and mixed kappa and lambda beads showed monoclonal peaks following the use of daratumumab (an IgG/kappa type of monoclonal antibody) with both MALDI-TOF and ESI-qTOF MS analysis. The limits of detection for MALDI-TOF MS and ESI-qTOF MS were established as 0.1 g/dL and 0.025 g/dL, respectively. NB-MALDI-TOF and IFE exhibited comparable sensitivity and specificity (92% and 92%, respectively).Conclusions: NBs for M-protein detection, particularly with mixed kappa-lambda beads, identified monoclonal peaks with both MALDI-TOF and ESI-qTOF analyses. Qualitative analysis using MALDI-TOF yielded results comparable with that of IFE. NB-MALDI-TOF might be used as an alternative method to replace conventional tests (such as IFE) to detect M-protein with high sensitivity.
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Original Article2024-11-01 Clinical Chemistry
Quantitative Evaluation of the Real-World Harmonization Status of Laboratory Test Items Using External Quality Assessment Data
Sollip Kim , M.D., Ph.D., Tae-Dong Jeong , M.D., Ph.D., Kyunghoon Lee , M.D., Ph.D., Jae-Woo Chung , M.D., Ph.D., Eun-Jung Cho , M.D., Ph.D., Seunghoo Lee , M.D., Ph.D., Sail Chun , M.D., Ph.D., Junghan Song , M.D., Ph.D., and Won-Ki Min , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 529-536Abstract : Background: 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. Methods: 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. Results: 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. Conclusions: We developed a quantitative RWHI using regional EQA data. This index may help reflect the actual harmonization level of laboratory tests in the field.
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Original Article2024-11-01 Clinical Microbiology
Prevalence and Molecular Characterization of Pharyngeal Gonorrhea in Korean Men With Urethritis
Kyoung Ho Roh , M.D., Changseung Liu , M.D., Young Hee Seo , B.S., Hyukmin Lee , M.D., Sangbong Lee , M.D., Young Uh , M.D., and Kyungwon Lee , M.D.
Ann Lab Med 2024; 44(6): 537-544Abstract : Background: Pharyngeal infection is more difficult to diagnose and treat than genital or rectal infection and can act as a reservoir for gonococcal infection. We determined the prevalence of pharyngeal gonorrhea in Korean men with urethritis and analyzed the molecular characteristics and antimicrobial susceptibility of the isolates. Methods: Seventy-two male patients with symptoms of urethritis who visited a urology clinic in Wonju, Korea, between September 2016 and March 2018 were included. Urethral and pharyngeal gonococcal cultures, antimicrobial susceptibility testing, Neisseria gonorrhoeae multi-antigen sequence typing (NG-MAST), and multiplex real-time PCR (mRT-PCR) were performed. Results: Among the 72 patients, 59 tested positive for gonococcus by mRT-PCR. Of these 59 patients, 18 (30.5%) tested positive in both the pharynx and urethra, whereas 41 tested positive only in the urethra. NG-MAST was feasible in 16 out of 18 patients and revealed that 14 patients had the same sequence types in both urethral and pharyngeal specimens, whereas two patients exhibited different sequence types between the urethra and pharynx. Of the 72 patients, 33 tested culture-positive. All patients tested positive only in urethral specimens, except for one patient who tested positive in both. All culture-positive specimens also tested positive by mRT-PCR. All isolates were susceptible to azithromycin and spectinomycin, but resistance rates to ceftriaxone and cefixime were 2.9% and 14.7%, respectively. Conclusions: The prevalence of pharyngeal gonorrhea in Korean men with gonococcal urethritis is as high as 30.5%, highlighting the need for pharyngeal screening in high-risk groups. Ceftriaxone is the recommended treatment for pharyngeal gonorrhea.
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Original Article2024-11-01 Diagnostic Immunology
Effects of Various Concentrations of Pronase on Flow Cytometric Crossmatching Patients Treated With Rituximab and Donor HLA-Specific Antibodies
Tae-Shin Kim , M.D., Inseong Oh , M.D., Yu Jung Choi , M.S., Minjeong Nam , M.D., Ph.D., Hajeong Lee , M.D., Ph.D., and Eun Young Song , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 545-552Abstract : Background: Pronase pretreatment can reduce rituximab (RTX) interference by degrading CD20 in B-cell flow cytometry crossmatch (FCXM) testing. However, it may also reduce the assay sensitivity by degrading HLA molecules. We investigated the effects of various pronase concentrations on RTX interference and the analytical sensitivity of B-cell FCXM testing.Methods: Using 59 patient serum samples and 38 donor lymphocyte samples, we designed 97 recipient–donor pairs and divided them into three groups according to RTX use and the presence of weak-to-moderate donor HLA-specific antibody (DSA) reactions: RTX+/DSA−, RTX+/DSA+, and RTX−/DSA+. FCXM was performed after pretreating lymphocytes with six different pronase concentrations (0, 0.5, 1, 2, 3, and 4 mg/mL).Results: With B-FCXM testing, false-positive results due to RTX in the RTX+/DSA– group markedly decreased with increasing pronase concentrations. The median channel shift values in the RTX+/DSA+ and RTX−/DSA+ groups did not significantly decrease when the pronase concentration was increased from 1 mg/mL to 2 or 3 mg/mL. All eight RTX+/DSA+ cases that were positive at 1 mg/mL pronase but negative at 2 or 3 mg/mL had mean fluorescence intensity (MFI) DSA values of less than 3,000 except for DQ5 (MFI: 5,226). With T-cell FCXM, false-positive results were observed in 2.9% of 315 FCXM tests with pronase pretreatment.Conclusions: Higher concentrations (2 or 3 mg/mL) of pronase effectively eliminated RTX interference but still carried a risk for false negativity for weak DSA reactions in B-cell FCXM. Higher pronase concentrations can be used as an auxiliary method to detect moderate-to-strong DSA reactions in RTX-treated patients.
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Original Article2024-11-01 Diagnostic Genetics
Evaluation of Droplet Digital PCR for the Detection of BRAF V600E in Fine-Needle Aspiration Specimens of Thyroid Nodules
Young Kyu Min , Ph.D., Jae Kyung Kim , Ph.D., Kyung Sun Park , M.D., Ph.D., and Jong-Won Kim , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 553-561Abstract : Background: Droplet digital (dd)PCR is a new-generation PCR technique with high precision and sensitivity; however, the positive and negative droplets are not always effectively separated because of the “rain” phenomenon. We aimed to develop a practical optimization and evaluation process for the ddPCR assay and to apply it to the detection of BRAF V600E in fine-needle aspiration (FNA) specimens of thyroid nodules, as an example. Methods: We optimized seven ddPCR parameters that can affect “rain.” Analytical and clinical performance were analyzed based on histological diagnosis after thyroidectomy using a consecutive prospective series of 242 FNA specimens. Results: The annealing time and temperature, number of PCR cycles, and primer and probe concentrations were found to be more important considerations for assay optimization than the denaturation time and ramp rate. The limit of blank and 95% limit of detection were 0% and 0.027%, respectively. The sensitivity of ddPCR for histological papillary thyroid carcinoma (PTC) was 82.4% (95% confidence interval [CI], 73.6%–89.2%). The pooled sensitivity of BRAF V600E in FNA specimens for histological PTC was 78.6% (95% CI, 75.9%–81.2%, I2=60.6%). Conclusions: We present a practical approach for optimizing ddPCR parameters that affect the separation of positive and negative droplets to reduce rain. Our approach to optimizing ddPCR parameters can be expanded to general ddPCR assays for specific mutations in clinical laboratories. The highly sensitive ddPCR can compensate for uncertainty in cytological diagnosis by detecting low levels of BRAF V600E.
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Original Article2024-11-01 Laboratory Informatics
Laboratory Preparation for Digital Medicine in Healthcare 4.0: An Investigation Into the Awareness and Applications of Big Data and Artificial Intelligence
Shinae Yu , M.D., Byung Ryul Jeon , M.D., Ph.D., Changseung Liu , M.D., Dokyun Kim , M.D., Ph.D., Hae-Il Park , M.D., Ph.D., Hyung Doo Park , M.D., Ph.D., Jeong Hwan Shin , M.D., Ph.D., Jun Hyung Lee , M.D., Ph.D., Qute Choi , M.D., Ph.D., Sollip Kim , M.D., Ph.D., Yeo Min Yun , M.D., Ph.D., and Eun-Jung Cho , M.D., Ph.D.; On behalf of the Evidence-Based Laboratory Medicine Committee of the Korean Society for Laboratory Medicine
Ann Lab Med 2024; 44(6): 562-571Abstract : Background: Healthcare 4.0. refers to the integration of advanced technologies, such as artificial intelligence (AI) and big data analysis, into the healthcare sector. Recognizing the impact of Healthcare 4.0 technologies in laboratory medicine (LM), we seek to assess the overall awareness and implementation of Healthcare 4.0 among members of the Korean Society for Laboratory Medicine (KSLM).Methods: A web-based survey was conducted using an anonymous questionnaire. The survey comprised 36 questions covering demographic information (seven questions), big data (10 questions), and AI (19 questions).Results: In total, 182 (17.9%) of 1,017 KSLM members participated in the survey. Thirty-two percent of respondents considered AI to be the most important technology in LM in the era of Healthcare 4.0, closely followed by 31% who favored big data. Approximately 80% of respondents were familiar with big data but had not conducted research using it, and 71% were willing to participate in future big data research conducted by the KSLM. Respondents viewed AI as the most valuable tool in molecular genetics within various divisions. More than half of the respondents were open to the notion of using AI as assistance rather than a complete replacement for their roles.Conclusions: This survey highlighted KSLM members’ awareness of the potential applications and implications of big data and AI. We emphasize the complexity of AI integration in healthcare, citing technical and ethical challenges leading to diverse opinions on its impact on employment and training. This highlights the need for a holistic approach to adopting new technologies.
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Brief Communication2024-11-01 Diagnostic Hematology
Reliability of the DI-60 Digital Image Analyzer for Detecting Platelet Clumping and Obtaining Accurate Platelet Counts
Suhyeon Woo , M.D., Bohyun Kim , M.D., Nam Hun Heo , M.S., Min-Sun Kim , M.D., Young Ahn Yoon , M.D., and Young-Jin Choi , M.D.
Ann Lab Med 2024; 44(6): 572-575Abstract : Pseudothrombocytopenia caused by platelet clumping (PC) can lead to unnecessary platelet transfusions or underdiagnosis of hematologic neoplasms. To overcome these limitations, we assessed the capacity of the Sysmex DI-60 digital morphology analyzer (Sysmex, Kobe, Japan) for detecting PC and determining an accurate platelet count in the presence of PC. For this purpose, 135 samples with or without PC (groups Y and N, respectively) were processed by an examiner (a hematologic specialist) using both the Sysmex XN-9000 and DI-60 analyzers. Although the platelet aggregate (PA) and giant platelet (GP) counts reported by the DI-60 and the examiner exhibited strong correlations, they proved inadequate as effective indicators for screening samples containing PC. Between the PA and GP counts and four platelet indices (the platelet distribution width [PDW], mean platelet volume [MPV], platelet large cell ratio [P_LCR], and plateletcrit [PCT]) reported by the XN-9000, we observed statistically significant correlations (both overall and with group Y), but they were relatively weak. The platelet counts determined using the DI-60 and light microscopy in group Y showed substantial variations. Although the performance of the DI-60 was reliable for detecting PA and GP in smear images, such fixed areas are not representative of whole samples. Further, in the presence of PC, the resulting platelet counts determined using the DI-60 were not sufficiently accurate to be accepted as the final count.
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Brief Communication2024-11-01 Diagnostic Hematology
Association Between Clonal Hematopoiesis of Indeterminate Potential and Brain β-Amyloid Deposition in Korean Patients With Cognitive Impairment
Jiwon Yun , M.D., Ph.D., Young Chul Youn , M.D., Ph.D., and Hye Ryoun Kim , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 576-580Abstract : Few studies have focused on the association between clonal hematopoiesis of indeterminate potential (CHIP) and β-amyloid (Aβ) deposition in the brain, which causes Alzheimer’s disease. We aimed to investigate the potential role of CHIP in brain Aβ deposition in Korean patients. We enrolled 58 Korean patients over 50 yrs of age with cognitive impairment who underwent brain Aβ positron emission tomography. We explored CHIP in their peripheral blood using deep-targeted next-generation sequencing. Irrespective of the presence or absence of brain Aβ deposition, mutations in DNMT3A and the C:G>T:A single-nucleotide variants were identified as the primary characteristics, which reflect aged hematopoiesis in the study population. Multivariate logistic regression revealed that the presence of CHIP was not associated with brain Aβ deposition. As both CHIP and brain Aβ deposition are associated with aging, further research is required to elucidate their possible interplay.
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Brief Communication2024-11-01 Clinical Microbiology
Increased Trend of Adenovirus Activity After the COVID-19 Pandemic in South Korea: Analysis of National Surveillance Data
Nam-Joo Lee , M.S., SangHee Woo , M.S., Jee Eun Rhee , Ph.D., Jaehee Lee , M.S., Sangwon Lee , Ph.D., and Eun-Jin Kim , Ph.D.
Ann Lab Med 2024; 44(6): 581-585Abstract : The adenovirus detection rate is
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Brief Communication2024-11-01 Diagnostic Immunology
Limited Contribution of Creatine Kinase-Myocardial Band Alongside High-Sensitivity Cardiac Troponin in Diagnosing Acute Myocardial Infarction in an Emergency Department
Hyeyoung Lee , M.D., Ph.D., Hyunhye Kang , M.D., Hyojin Chae , M.D., Ph.D., and Eun-Jee Oh , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 586-590Abstract : 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.
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Brief Communication2024-11-01 Diagnostic Genetics
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review
Kwan Hoon Jo , M.D., Ph.D, Jaewoong Lee , M.D., Ph.D, Jaeeun Yoo , M.D., Ph.D, Hoon Seok Kim , M.D., Ph.D, Eun Sook Kim , M.D., Ph.D, Je Ho Han , M.D., Ph.D, Yi Sun Jang , M.D., Ph.D, Jae-Seung Yun , M.D., Ph.D, Jang Won Son , M.D., Ph.D, Soon Jib Yoo , M.D., Ph.D, Seung Hwan Lee , M.D., Ph.D, Dong Jun Lim , M.D., Ph.D, Hyuk-Sang Kwon , M.D., Ph.D, Seungok Lee , M.D., Ph.D, Sungdae Moon , M.D. Ph.D, and Myungshin Kim , M.D., Ph.D
Ann Lab Med 2024; 44(6): 591-597Abstract : Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype–phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes: RET, NF1, VHL, and SDHD. Germline mutations were significantly associated with a family history of PPGL, smaller tumor size, and the presence of other types of tumors. Using 95 Korean PPGL cases with germline mutations identified through a literature review and 13 cases from our cohort, we characterized genotype–phenotype correlations. Mutation hotspots were identified in specific codons of RET (codons 631 and 634), VHL (157 and 167), and SDHB (131 and 253). NF1 mutations varied, indicating the absence of common hotspots. These findings highlight the efficacy of the recommended NGS panel for Korean patients with PPGL and the importance of genetic testing in establishing clinical management and personalized therapeutic strategies.
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Letter to the Editor2024-11-01 Clinical Chemistry
Comment on “Ionized Magnesium Correlates With Total Blood Magnesium in Pediatric Patients Following Kidney Transplant”
Naveen Bangia , Ph.D., Dennis Begos , M.D., and Bogdan Milojkovic , M.D.
Ann Lab Med 2024; 44(6): 598-599 -
Letter to the Editor2024-11-01 Clinical Microbiology
Fretibacterium Species to Fusobacterium periodonticum Ratio as a Potential Biomarker of Periodontitis Based on Salivary Microbiome Profiling
Eun Ji Oh , D.D.S., Hyun Hee Jang , M.S., Sangwon Park , D.D.S., Ph.D., Hyun-Pil Lim , D.D.S., Ph.D., Kwi-Dug Yun , D.D.S., Ph.D., Woohyung Jang , D.D.S., Ph.D., Ok-Su Kim , D.D.S., Ph.D., Chan Park , D.D.S., Ph.D., and Eun Jeong Won , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 600-603 -
Letter to the Editor2024-11-01 Clinical Microbiology
The First Case of Tenosynovitis Caused by Thyridium endophyticum
Sung Hyun Cho , M.D., Yong Jun Kwon , M.D., Seung A Byun , M.S., Jong Hee Shin , M.D., Ph.D., Hyun-Woo Choi , M.D., Ph.D., Suk Hee Heo , M.D., Ph.D., Jun-Hyuk Lim , M.D., Myung-Sun Kim , M.D., Ph.D., Yoonjung Lee , M.D., and Seung Ji Kang , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 604-607 -
Letter to the Editor2024-11-01 Clinical Microbiology
An Unexpected Encounter During a Screening Colonoscopy in a Medical Tourist: A Diagnosis of Hymenolepis nana Infection
Bosung Park , M.D., Ph.D., Hye Won Park , M.D., Ph.D., Hyun Jung Park , M.D., Ph.D., Eun Jeong Won , M.D., Ph.D., Heungsup Sung , M.D., Ph.D., and Mi-Na Kim , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 608-610 -
Letter to the Editor2024-11-01 Diagnostic Immunology
Effect of Blood Collection Tubes on Vitamin D Immunoassay Results
Hyojin Chae , M.D., Ph.D., Sangyoon Lee , M.T., Ae-Ran Choi , M.T., Sung-Eun Cho , M.D., Ph.D., and Eun-Jee Oh , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 611-613 -
Letter to the Editor2024-11-01 Transfusion and Cell Therapy
PacBio Third-Generation Sequencing Reveals an ABO Gene Promoter Mutation, c.–35_–18del, Leading to Weakened B Antigen Expression
Lin-Nan Shao , M.S., Yue-Xin Xia , M.S., Yi-Cheng Yang , M.S., Ning Li , M.S., Chun-Xiang Li , M.S., and Shi-Hang Zhou , Ph.D.
Ann Lab Med 2024; 44(6): 614-616 -
Letter to the Editor2024-11-01 Diagnostic Genetics
Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay
Paola Concolino , M.Sc., Elisa De Paolis , M.Sc., Martina Rinelli , M.Sc., Giulia Maneri , M.Sc., Francesca Brisighelli , Ph.D., Rita Trozzi , M.D., Simona Duranti , M.D., Luciano Giacò , M.Sc., Maria Piane , M.D., Alessia Preziosi , M.Sc., Arianna Panfili , M.D., Giovanni Scambia , M.D., Camilla Nero , M.D., Maria De Bonis , M.Sc., and Angelo Minucci , M.Sc., Ph.D.
Ann Lab Med 2024; 44(6): 617-620 -
Letter to the Editor2024-11-01 Diagnostic Genetics
Aberrant Splicing in PKD2 in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease
Soo-Young Yoon , M.D., Ph.D., Jin Sug Kim , M.D., Ph.D., and Kyung Sun Park , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 621-624 -
Letter to the Editor2024-11-01 Diagnostic Genetics
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B
Joowon Jang , M.D., M.A., Hara Im , B.S., Hyesu Lee , B.S., Hobin Sung , B.S., Sung Im Cho , M.T., Jee-Soo Lee , M.D., Ph.D., Jung Min Ko , M.D., Ph.D., and Moon-Woo Seong , M.D., Ph.D.
Ann Lab Med 2024; 44(6): 625-627