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Toward High-Quality Real-World Laboratory Data in the Era of Healthcare Big Data

Kim S, Min WK

With Industry 4.0, big data and artificial intelligence have become paramount in the field of medicine. Electronic health records, the primary source of medical data, are not collected for research...
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Advancing Laboratory Medicine Practice With Machine Learning: Swift yet Exact

You J, Seok HS, Kim S, Shin H

Machine learning (ML) is currently being widely studied and applied in data analysis and prediction in various fields, including laboratory medicine. To comprehensively evaluate the application of ML in laboratory...
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Laboratory Data as a Potential Source of Bias in Healthcare Artificial Intelligence and Machine Learning Models

Luu HS

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...
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Rare Non-Cryptic NUP98 Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact

Park MS, Kim B, Jang JH, Jung CW, Kim HJ, Kim HY

Background: NUP98 rearrangements (NUP98r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare NUP98r remain limited. We...
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Assessing the Relevance of Non-Molecular Prognostic Systems for Myelodysplastic Syndrome in the Era of Next-Generation Sequencing

Lincango M, Andreoli V, Rivello HG, Bender A, Catalán AI, Rahhal M, Delamer R, Asinari M, Orgueira AM, Castro MB, Osorio MJM, Navickas A, Grille S, Agriello E, Arbelbide J, Basquiera AL, Belli CB

Background: 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...
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Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants

Olivieri M, Rosetti M, Poletti G, Maffei M, Coviello D, Mogni M, Capalbo F, Caterina MM, Polli V, Clementoni A, Massari E, Monti M, Maoggi S, Fasano T

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The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry

Kim KB, Lee GS, Shin S, Kim DC, Seo D, Kweon H, Kang H, Park S, Kim DH, Ryoo N, Lee S, Ha JS

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Endogenous Thrombin Potential Level Helps Predict High Blood Loss in Patients Undergoing Cardiac Surgery

Jung Y, Choi JW, Hwang HY, Gu JY, Kim KH, Kim HK

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Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans

Park JE, Lee T, Cho EH, Jang MA, Won D, Park B, Ki CS, Kong SY

Background: MUTYH-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We...
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A Case of Bidirectional ABO- and RhD-Incompatible Liver Transplantation in a Mongolian Patient With Asian-Type DEL

Kang T, Choi R, Kim DS, Cho D, Kim DW

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Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort

Caroselli S, Fabiani M, Micolonghi C, Savio C, Tini G, Musumeci B, Pagannone E, Germani A, Libi F, Visco V, Pizzuti A, Autore C, Petrucci S, Rubattu S, Piane M

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of diseasecausing variants in genes encoding sarcomere proteins. However,...
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Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma

Kim SJ, Kim JJ, Park MR, Park B, Ryu KJ, Yoon SE, Kim WS, Shin S, Lee ST

We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large...
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Evaluation of the Disk Diffusion Test for Bacteroides fragilis Group Clinical Isolates

Lee Y, Bae MH, Lee H, Kim M, Lee K

Background: Bacteroides fragilis group (BFG) isolates are the most frequently isolated gram-negative anaerobic bacteria and exhibit higher levels of antimicrobial resistance than other anaerobic bacteria. Reliable susceptibility testing is needed...
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Interinstitutional Comparison of Vancomycin Area Under the Concentration–Time Curve Estimation in Korea: Need for Standardized Operational Protocols for Therapeutic Drug Monitoring Consultation

Kim HK, Park M, Seo JD, Jeong TD, Ji M

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...
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Development and Validation of a Novel Isotope Dilution-Ultraperformance Liquid ChromatographyTandem Mass Spectrometry Method for Serum C-Peptide

Cho SE, Han J, You J, Lee JH, Yi A, Lee SG, Lee EH

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 (IDUPLC-MS/MS) assay...
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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

Yun J, Kim HR

Background: 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...
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