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Development and Validation of a Novel Isotope Dilution-Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry Method for Serum C-Peptide. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-08-23 Sung-Eun Cho,Jungsun Han,Juyoung You,Jun Hyung Lee,Ahram Yi,Sang Gon Lee,Eun Hee Lee
Background Mass spectrometry (MS) methods exhibit higher accuracy and comparability in measuring serum C-peptide concentrations than immunoassays. We developed and validated a novel isotope dilution-ultraperformance liquid chromatography-tandem MS (ID-UPLC-MS/MS) assay to measure serum C-peptide concentrations. Methods Sample pretreatment involved solid-phase extraction, ion-exchange solid-phase extraction
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Aberrant Splicing in PKD2 in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-08-22 Soo-Young Yoon,Jin Sug Kim,Kyung Sun Park
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Detecting M-Protein via Mass Spectrometry and Affinity Beads: Enrichment With Mixed Kappa-Lambda Beads Enables Prompt Application in Clinical Laboratories. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-08-20 Jikyo Lee,Jung Hoon Choi,Eun-Hee Kim,Jihyun Im,Heeyoun Hwang,Seojin Yang,Joon Hee Lee,Kyunghoon Lee,Junghan Song,Seungman Park,Sang Hoon Song
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)
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Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-29 Kwan Hoon Jo,Jaewoong Lee,Jaeeun Yoo,Hoon Seok Kim,Eun Sook Kim,Je Ho Han,Yi Sun Jang,Jae-Seung Yun,Jang Won Son,Soon Jib Yoo,Seung Hwan Lee,Dong Jun Lim,Hyuk-Sang Kwon,Seungok Lee,Sungdae Moon,Myungshin Kim
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
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Assessing the Relevance of Non-molecular Prognostic Systems for Myelodysplastic Syndrome in the Era of Next-Generation Sequencing. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-26 Marco Lincango, Verónica Andreoli, Hernán García Rivello, Andrea Bender, Ana I Catalán, Marilina Rahhal, Rocío Delamer, Mariana Asinari, Adrián Mosquera Orgueira, María Belén Castro, María José Mela Osorio, Alicia Navickas, Sofia Grille, Evangelina Agriello, Jorge Arbelbide, Ana Lisa Basquiera, Carolina B Belli
The Molecular International Prognostic Scoring System (IPSS-M) has improved the prediction of clinical outcomes for myelodysplastic syndromes (MDS). The Artificial Intelligence Prognostic Scoring System for MDS (AIPSS-MDS), based on classical clinical parameters, has outperformed the IPSS, revised version (IPSS-R). For the first time, we validated the IPSS-M and other molecular prognostic models and
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Reclassification of Myelodysplastic Neoplasms According to the 2022 World Health Organization Classification and the 2022 International Consensus Classification Using Open-Source Data: Focus on SF3B1- and TP53-mutated Myelodysplastic Neoplasms. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-24 Jiwon Yun, Hye Ryoun Kim
In 2022, the WHO and International Consensus Classification (ICC) published diagnostic criteria for myelodysplastic neoplasms (MDSs). We examined the influence of the revised diagnostic criteria on classifying MDSs in a large population.
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Effect of Blood Collection Tubes on Vitamin D Immunoassay Results. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-23 Hyojin Chae,Sangyoon Lee,Ae-Ran Choi,Sung-Eun Cho,Eun-Jee Oh
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A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-23 Joowon Jang,Hara Im,Hyesu Lee,Hobin Sung,Sung Im Cho,Jee-Soo Lee,Jung Min Ko,Moon-Woo Seong
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Increased Trend of Adenovirus Activity After the COVID-19 Pandemic in South Korea: Analysis of National Surveillance Data. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-23 Nam-Joo Lee, SangHee Woo, Jee Eun Rhee, Jaehee Lee, Sangwon Lee, Eun-Jin Kim
The adenovirus detection rate is <10% throughout the year in South Korea; however, during the summer of 2023, it showed an unusual increase. We analyzed the adenovirus detection rate using data from the Korea Respiratory Integrated Surveillance System before and after coronavirus disease (COVID-19) collected from 2019 to week 36 of 2023. Before the COVID-19 outbreak in 2019, the mean detection rate
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An Unexpected Encounter During a Screening Colonoscopy in a Medical Tourist: A Diagnosis of Hymenolepis nana Infection. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-22 Bosung Park,Hye Won Park,Hyun Jung Park,Eun Jeong Won,Heungsup Sung,Mi-Na Kim
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Prevalence and Molecular Characterization of Pharyngeal Gonorrhea in Korean Men With Urethritis. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-22 Kyoung Ho Roh, Changseung Liu, Young Hee Seo, Hyukmin Lee, Sangbong Lee, Young Uh, Kyungwon Lee
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.
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Customized Quality Assessment of Healthcare Data. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-17 Jieun Shin,Jong-Yeup Kim
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Effects of Various Concentrations of Pronase on Flow Cytometric Crossmatching Patients Treated With Rituximab and Donor HLA-Specific Antibodies. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-12 Tae-Shin Kim, Inseong Oh, Yu Jung Choi, Minjeong Nam, Hajeong Lee, Eun Young Song
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.
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Why Terminology Standards Matter for Data-driven Artificial Intelligence in Healthcare. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-03 Hyeoun-Ae Park
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Evaluating the Commutability of Reference Materials for α-Fetoprotein: Accurate Value Assignment With Multiple Systems and Trueness Verification. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-02 Jianping Zhang, Jing Zhao, Qingtao Wang, Rui Zhang, Yuhong Yue
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.
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Laboratory Preparation for Digital Medicine in Healthcare 4.0: An Investigation Into the Awareness and Applications of Big Data and Artificial Intelligence. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-07-02 Shinae Yu, Byung Ryul Jeon, Changseung Liu, Dokyun Kim, Hae-Il Park, Hyung Doo Park, Jeong Hwan Shin, Jun Hyung Lee, Qute Choi, Sollip Kim, Yeo Min Yun, Eun-Jung Cho
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).
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Quantitative Evaluation of the Real-World Harmonization Status of Laboratory Test Items Using External Quality Assessment Data. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-26 Sollip Kim, Tae-Dong Jeong, Kyunghoon Lee, Jae-Woo Chung, Eun-Jung Cho, Seunghoo Lee, Sail Chun, Junghan Song, Won-Ki Min
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
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Diagnostic Accuracy of Plasma Renin and Renin Activity in Predicting Mortality and Kidney Outcomes in Patients With Septic Shock and Hypoperfusion or Hypotension: A Multicenter, Prospective, Observational Study. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-24 Gun Tak Lee, Byuk Sung Ko, Da Seul Kim, Minha Kim, Jong Eun Park, Sung Yeon Hwang, Daun Jeong, Chi Ryang Chung, Hyunggoo Kang, Jaehoon Oh, Tae Ho Lim, Bora Chae, Won Young Kim, Tae Gun Shin
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.
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Limited Contribution of Creatine Kinase-Myocardial Band Alongside High-Sensitivity Cardiac Troponin in Diagnosing Acute Myocardial Infarction in an Emergency Department. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-24 Hyeyoung Lee, Hyunhye Kang, Hyojin Chae, Eun-Jee Oh
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
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Evaluation of Droplet Digital PCR for the Detection of BRAF V600E in Fine-Needle Aspiration Specimens of Thyroid Nodules. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-14 Young Kyu Min, Jae Kyung Kim, Kyung Sun Park, Jong-Won Kim
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
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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-07 Seung-Tae Lee
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Next-Generation Patient-Based Real-Time Quality Control Models. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-06-05 Xincen Duan, Minglong Zhang, Yan Liu, Wenbo Zheng, Chun Yee Lim, Sollip Kim, Tze Ping Loh, Wei Guo, Rui Zhou, Tony Badrick
Patient-based real-time QC (PBRTQC) uses patient-derived data to assess assay performance. PBRTQC algorithms have advanced in parallel with developments in computer science and the increased availability of more powerful computers. The uptake of Artificial Intelligence in PBRTQC has been rapid, with many stated advantages over conventional approaches. However, until this review, there has been no critical
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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. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-05-31 Paola Concolino,Elisa De Paolis,Martina Rinelli,Giulia Maneri,Francesca Brisighelli,Rita Trozzi,Simona Duranti,Luciano Giacò,Maria Piane,Alessia Preziosi,Arianna Panfili,Giovanni Scambia,Camilla Nero,Maria De Bonis,Angelo Minucci
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Importance of the Molecular Epidemiological Monitoring of Carbapenem-Resistant Pseudomonas aeruginosa. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-05-30 Young Ah Kim
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Association Between Clonal Hematopoiesis of Indeterminate Potential and Brain β-Amyloid Deposition in Korean Patients With Cognitive Impairment. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-05-28 Jiwon Yun, Young Chul Youn, Hye Ryoun Kim
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
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Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-05-10 Yeeun Shim, Jieun Seo, Seung-Tae Lee, Jong Rak Choi, Young-Chul Choi, Saeam Shin, Hyung Jun Park
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
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Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-05-03 Zhenyi Huang, Ziyan Li, Yating Li, Yunshan Cao, Suping Zhong, Jinlu Liu, Zhiqian Lin, Lijuan Lin, Yanping Fang, Jing Zeng, Zhaoying Su, Huibin Li, Jianfen Liang, Biqing Zhu, Zipei Lin, Yongxin Huang, Xuexi Yang, Lingxiao Jiang
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
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Fretibacterium Species to Fusobacterium periodonticum Ratio as a Potential Biomarker of Periodontitis Based on Salivary Microbiome Profiling. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-22 Eun Ji Oh,Hyun Hee Jang,Sangwon Park,Hyun-Pil Lim,Kwi-Dug Yun,Woohyung Jang,Ok-Su Kim,Chan Park,Eun Jeong Won
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The First Case of Tenosynovitis Caused by Thyridium endophyticum. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-19 Sung Hyun Cho,Yong Jun Kwon,Seung A Byun,Jong Hee Shin,Hyun-Woo Choi,Suk Hee Heo,Jun-Hyuk Lim,Myung-Sun Kim,Yoonjung Lee,Seung Ji Kang
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Reliability of the DI-60 Digital Image Analyzer for Detecting Platelet Clumping and Obtaining Accurate Platelet Counts. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-19 Suhyeon Woo, Bohyun Kim, Nam Hun Heo, Min-Sun Kim, Young Ahn Yoon, Young-Jin Choi
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
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Association Between Plasma Anti-Factor Xa Concentrations and Large Artery Occlusion in Patients With Acute Ischemic Stroke Taking Direct Oral Anticoagulants for Non-valvular Atrial Fibrillation. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-18 Dae-Hyun Kim,Byung-Cheol Kwak,Byeol-A Yoon,Jae-Kwan Cha,Jong-Sung Park,Min-Sun Kwak,Kwang-Sook Woo,Jin-Yeong Han
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PacBio Third-Generation Sequencing Reveals an ABO Gene Promoter Mutation, c.-35_-18del, Leading to Weakened B Antigen Expression. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-11 Lin-Nan Shao,Yue-Xin Xia,Yi-Cheng Yang,Ning Li,Chun-Xiang Li,Shi-Hang Zhou
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Comparison of Target- and IgG-Enrichment Strategies to Measure Adalimumab Concentrations in Human Plasma Using an Immunocapture-Liquid Chromatography-High-Resolution Mass Spectrometry Platform. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-09 Xiaoliang Ding,Shengxiong Zhu,Linsheng Liu,Xiaoxue Liu,Kouzhu Zhu,Liyan Miao
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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. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-04-04 Min-Kyung So, Jungwon Huh, Seunghwan Kim, Sholhui Park
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.
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Metformin Suppresses Both PD-L1 Expression in Cancer Cells and Cancer-Induced PD-1 Expression in Immune Cells to Promote Antitumor Immunity. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-26 Su Hwan Park, Juheon Lee, Hye Jin Yun, Seok-Ho Kim, Jong-Ho Lee
Metformin, a drug prescribed for patients with type 2 diabetes, has potential efficacy in enhancing antitumor immunity; however, the detailed underlying mechanisms remain to be elucidated. Therefore, we aimed to identify the inhibitory molecular mechanisms of metformin on programmed death ligand 1 (PD-L1) expression in cancer cells and programmed death 1 (PD-1) expression in immune cells.
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Detection of a High-Dose Hook Effect and Evaluation of Dilutions of Urine Myoglobin Specimens Using a Serum Myoglobin Assay. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-14 Joshua Joon Hyung Hunsaker,Sonia Leilani La'ulu,Emily Zupan,Dhwani Patel,Vrajesh Pandya,Joseph William Rudolf
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The First Case of Pulmonary Mucormycosis Caused by Lichtheimia ornata. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-13 Jungjun Lee,Dong-Gun Lee,Raeseok Lee,Jae-Ho Yoon,Kyongmin Sarah Beck,In Young Yoo,Yeon-Joon Park
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Prevalence and Molecular Characterization of Vancomycin Variable Enterococcus faecium Isolated From Clinical Specimens. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-13 In Young Yoo,Joo An Kwon,Miran Lee,Seung-Hyun Jung,Jung Ok Kim,Sung Il Ha,Yeon-Joon Park
Vancomycin variable Enterococcus (VVE) bacteria are phenotypically susceptible to vancomycin, but they harbor the vanA gene. We aimed to ascertain the prevalence of VVE among clinically isolated vancomycin-susceptible Enterococcus faecium (VSE) isolates, as well as elucidate the molecular characteristics of the vanA gene cluster within these isolates. Notably, we investigated the prevalence and structure
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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. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-12 Weiqiang Chen,Peiling Yu,Chao Chen,Shaoyan Cai,Junheng Chen,Chunqin Zheng,Chaojin Chen,Liangjie Zheng,Chunming Guo
Background 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
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Platelet and Monocyte Microvesicles as Potential Biomarkers of COVID-19 Severity: A Cross-Sectional Analysis. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-12 Nastasya Nunki,Yetti Hernaningsih,Puspa Wardhani,Asih Herawati,Narazah Mohd Yusoff,Emmanuel Jairaj Moses,Bambang Pujo Semedi
Background Coronavirus disease (COVID-19) induces inflammation, coagulopathy following platelet and monocyte activation, and fibrinolysis, resulting in elevated D-dimer levels. Activated platelets and monocytes produce microvesicles (MVs). We analyzed the differences in platelet and monocyte MV counts in mild, moderate, and severe COVID-19, as well as their correlation with D-dimer levels. Methods
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A Severe Infection Caused by a White Colony-Producing Strain of Clostridioides difficile RTC41/ST588. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-07 Se Yoon Park,Heejung Kim,Yangsoon Lee
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Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-07 Jiwon Yun,Dong Soon Lee,Sungyoung Lee,Hongseok Yun
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
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TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-04 Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Ping-Hui Tu, Cao-Xu Zhang, Rui-Meng Yang, Ren-Jie Cui, Chen-Yang Wu, Ya Fang, Liu Yang, Huai-Dong Song, Shuang-Xia Zhao
Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype-phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships
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Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-04 Yeeun Shim, Yu-Kyung Koo, Saeam Shin, Seung-Tae Lee, Kyung-A Lee, Jong Rak Choi
Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies.
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Clonal Distribution and Its Association With the Carbapenem Resistance Mechanisms of Carbapenem-Non-Susceptible Pseudomonas aeruginosa Isolates From Korean Hospitals. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-03-04 Nayeong Kim, Seo Yeon Ko, Seong Yong Park, Seong Yeob Kim, Da Eun Lee, Ki Tae Kwon, Yu Kyung Kim, Je Chul Lee
Carbapenem resistance in Pseudomonas aeruginosa is a serious global health problem. We investigated the clonal distribution and its association with the carbapenem resistance mechanisms of carbapenem-non-susceptible P. aeruginosa isolates from three Korean hospitals.
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Guide to Rho(D) Immune Globulin in Women With Molecularly Defined Asian-type DEL (c.1227G>A). Ann. Lab. Med. (IF 4.0) Pub Date : 2024-02-22 In Hwa Jeong, SooHo Yu, Tae Yeul Kim, Soo-Young Oh, Duck Cho
Rh hemolytic disease of the fetus and newborn is a potential risk for D-negative mothers who produce anti-D during pregnancy, which can lead to morbidity and mortality in subsequent pregnancies. To prevent this hemolytic disease, Rho(D) immune globulin (RhIG) is generally administered to D-negative mothers without anti-D at 28 weeks of gestation and shortly after delivery. However, current guidelines
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Usefulness of Component-Resolved Diagnosis of Pollen-Food Allergy Syndrome. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-02-20 Moon Won Lee,Hyun Ji Lee,Seulgi Moon,Kyung-Hwa Shin
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Evaluating the TaqMan Jra-Genotyping Method for Rapidly Predicting the Presence of Anti-Jra Antibodies. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-02-20 Yu-Kyung Koo, Soon Sung Kwon, Eun Jung Suh, Na Hyeong Kim, Hyun Kyung Kim, Youn Keong Cho, Seung Jun Choi, Sinyoung Kim, Kyung-A Lee
The Jra antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jra (anti-Jra) have potential clinical significance. Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict
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Educational Outcomes and Perception Changes in Medical Students After Visiting a Blood Donation Center. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-02-20 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
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
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Manufacturing Cell and Gene Therapies: Challenges in Clinical Translation. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-02-16 Na Kyung Lee,Jong Wook Chang
The safety and efficacy of both cell and gene therapies have been demonstrated in numerous preclinical and clinical trials. Chimeric antigen receptor T (CAR-T) cell therapy, which leverages the technologies of both cell and gene therapies, has also shown great promise for treating various cancers. Advancements in pertinent fields have also highlighted challenges faced while manufacturing cell and gene
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Direct LDL Cholesterol Assay vs. Estimated Equations in Patients With Hypertriglyceridemia or Low LDL Cholesterol Levels. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-19 Jennifer Rodríguez-Domínguez,Álvaro Piedra-Aguilera,María Martínez-Bujidos,Susana Malumbres-Serrano,Cristian Morales-Indiano,Carla Fernández-Prendes
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Comparative Analysis of AB vs. ABO-specific Plasma for Desensitization in Blood Group O Recipients: An In Vitro Study. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-19 Young Ae Lim
Neutralizing capacity measurement (NCM) of soluble ABH substances (SAS) in plasma was assessed to guide the selection of the appropriate ABO group of fresh-frozen plasma (FFP) for plasma exchange (PE) in blood group O recipients with ABO-incompatible transplantations. Neutralizing capacity was assessed by measuring anti-A and/or anti-B titers in samples comprising one unit of O FFP and 10 O EDTA plasma
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Comparison of Measurable Residual Disease in Pediatric B-Lymphoblastic Leukemia Using Multiparametric Flow Cytometry and Next-Generation Sequencing. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-19 Sang Mee Hwang, Inseong Oh, Seok Ryun Kwon, Jee-Soo Lee, Moon-Woo Seong
Measurable residual disease (MRD) testing, a standard procedure in B-lymphoblastic leukemia (B-ALL) diagnostics, is assessed using multiparametric flow cytometry (MFC) and next-generation sequencing (NGS) analysis of immunoglobulin gene rearrangements. We evaluated the concordance between eight-color, two-tube MFC-MRD the LymphoTrack NGS-MRD assays using 139 follow-up samples from 54 pediatric patients
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Clinical Practice Guideline for Blood-Based Circulating Tumor DNA Assays. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-15 Jee-Soo Lee, Eun Hye Cho, Boram Kim, Jinyoung Hong, Young-Gon Kim, Yoonjung Kim, Ja-Hyun Jang, Seung-Tae Lee, Sun-Young Kong, Woochang Lee, Saeam Shin, Eun Young Song
Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an in-depth exploration of the clinical implementation
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Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-11 Minkwan Kim,Jin Ju Kim,Seung-Tae Lee,Yeeun Shim,Hyeonah Lee,SungA Bae,Nak-Hoon Son,Saeam Shin,In Hyun Jung
Background The mechanism and medical treatment target for degenerative aortic valve disease, including aortic stenosis, is not well studied. In this study, we investigated the effect of clonal hematopoiesis of indeterminate potential (CHIP) on the development of aortic valve sclerosis (AVS), a calcified aortic valve without significant stenosis. Methods Participants with AVS (valves ≥2 mm thick, high
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Current Challenges in Chimeric Antigen Receptor T-cell Therapy in Patients With B-cell Lymphoid Malignancies. Ann. Lab. Med. (IF 4.0) Pub Date : 2024-01-11 Seok Jin Kim,Sang Eun Yoon,Won Seog Kim
Chimeric antigen receptor (CAR) T-cell therapy is a promising immunotherapy based on genetically engineered T cells derived from patients. The introduction of CAR T-cell therapy has changed the treatment paradigm of patients with B-cell lymphoid malignancies. However, challenging issues including managing life-threatening toxicities related to CAR T-cell infusion and resistance to CAR T-cell therapy
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Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome. Ann. Lab. Med. (IF 4.0) Pub Date : 2023-12-28 Jaewoong Lee,Jong-Mi Lee,Hoon Seok Kim,Jin Jung,Yonggoo Kim,Suk Young Park,Myungshin Kim,Eunhee Han
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Optimization of a Protocol for Isolating Cell-free DNA from Cerebrospinal Fluid. Ann. Lab. Med. (IF 4.0) Pub Date : 2023-12-28 Ho Hyun Song, Hyeran Park, Doohwan Cho, Hae In Bang, Hyuk-Jin Oh, Jieun Kim
A standardized protocol for the isolation of cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) is lacking. Therefore, we established a cfDNA isolation protocol optimized for clinical CSF specimens, integrating acceptable modifications and using artificial CSF generated from remnant CSF spiked with reference cell-free tumor DNA (ctDNA). We compared the isolation yields of in vitro diagnostic (IVD)-certified
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Toward Standardization of Flow-Cytometric Immunophenotyping for the Diagnosis and Monitoring of Hematologic Malignancies. Ann. Lab. Med. (IF 4.0) Pub Date : 2023-12-26 Seon Young Kim,Hee Jin Huh
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The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation. Ann. Lab. Med. (IF 4.0) Pub Date : 2023-12-26 Boram Kim,Yo Han Ahn,Jae Hyeon Park,Han Sol Lim,Seung Won Chae,Jee-Soo Lee,Hee Gyung Kang,Man Jin Kim,Moon-Woo Seong