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Cowden Syndrome: A Review

Jung YR, Jun JY, Lee S, Ryu KH, Lee DO, Chang YJ, Jung SY, Kong SY

Cowden syndrome is a rare autosomal dominant genetic disease, with an estimated prevalence of 1/200,000 with majority of PTEN germline mutation. Diagnostic criteria of Cowden syndrome have been changed and...
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation

Won D, Seol CA, Ha JS, Kim IS

Chromosomal microarray (CMA) analysis can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories must develop a comprehensive understanding of the strengths, weaknesses, and purposes of...
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First Korean Case of Pediatric Acute Megakaryoblastic Leukemia with CBFA2T3::GLIS2 Fusion

Kim N, Kim H, Shin S

Acute megakaryoblastic leukemia (AMKL) is a rare type of acute myeloid leukemia that evolved from primitive megakaryoblasts. We report a case of non-Down syndrome AMKL with CBFA2T3::GLIS2 fusion that has...
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part I, General and Prenatal

Seol CA, Ha JS, Won DJ, Kim IS

Chromosomal microarray (CMA) testing can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories require a comprehensive understanding of the strengths, weaknesses, and purposes of CMA...
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ffects of Endocrine-Disrupting Chemicals on Human Health

Lee JH, Cho SE, CMSRC(otKSoCC(

Endocrine-disrupting chemicals (EDCs) are exogenous substances that interfere with normal endocrine physiology by disrupting the synthesis, metabolism, and cellular function of natural hormones. Humans are constantly exposed to EDCs from...
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Immunological Characteristics of Unvaccinated Patients with COVID-19 in the Early Pandemic Period

Kim N, Kim B, Shin S, Minn D, Park S, Roh EY, Yoon JH, Park H

Background: Immune responses to infectious disease differ according to disease severity. In this study, we investigated the overall laboratory profiles, including antibody titers and cytokine levels in unvaccinated patients with...
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Evaluation of a Robotic Liquid Handler, Andrew+, for Sample Preparation for LC-MS/MSBased Quantitation of Immunosuppressants in Whole Blood

Chae H, Kim H, Kim JE, Lee JJ, Cho SE, Kim S, Lee K, Lee SG, Lee YW, Park HD, Park S, Song SH, Chun S, Song J, CMSRC(iawtKSoCC(

monitoring (TDM) of immunosuppressive drugs (ISDs). However, many laboratories that employ LC-MS/MS assays for TDM of ISDs use manual sample preparation steps. Methods: We implemented a semi-automated sample preparation method based...
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An Evaluation of the Appropriateness of Platelet Transfusion and Transfusion Effects of Platelet Products

Kim H, Koo KL, Lee HJ, Shin KH, Oh SH, Kim H, Kim HH

Background: Platelet count is important in assessing patient response after platelet transfusion. Despite their numerous side effects, platelet transfusions lack research on their appropriateness. In this study, the corrected count...
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Factors Associated with the Performance of Direct PCR Detection of Mycobacteria in Clinical Specimens: Retrospective Real-world Data

Park CH

Background: Tuberculosis caused by Mycobacterium tuberculosis (MTB) remains a major health problem worldwide. Nontuberculous mycobacteria (NTM) infection is the primary cause of pulmonary disease. Currently, for early diagnosis of mycobacterial...
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Liver Fibrosis Biomarker Validation Using Machine Learning Algorithms

Kim MK, Kwon HJ, Shin K, Park H, Woo HY, Park CH, Kwon MJ

Background: Liver fibrosis which causes several liver diseases, requires early screening and management. The gold standard for fibrosis assessment, liver biopsy, has recently been replaced by noninvasive scores. In this...
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Comparison Between ADVIA Centaur XP and cobas e801 for Prostate-Specific Antigen Assays using Large-Scale Clinical Samples

Yu S, Kim SM, Park HD

Background: Prostate-specific antigen (PSA) is the first-line test for screening prostate malignancy. However, PSA levels vary between measurement procedures (MPs). In this study, we evaluated the precision and linearity of...
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Concordance of Current Tests Used for the Diagnosis of Bone Marrow Involvement in B-Lineage Lymphoma with Respect to Various Lymphoma Grade

Park SH, Moon S, Kim H, Kim IS

Background: We evaluated the concordance of bone marrow (BM) aspirates, biopsy, immunohistochemical (IHC) staining, fluorescence in situ hybridization (FISH), and karyotyping used in diagnosing BM involvement in B-lineage lymphoma and...
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Associations between Vitamin D and Indicators of Common Chronic Diseases in Korean Adults

Yoon HR, Kwak H, Nah EH, Cho CH

Background: Vitamin D receptors exist in all cells throughout the human body regulating transcription and expression of various target genes. Recent studies have focused on the potential novel functions of vitamin...
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Assessment of the Impact of COVID-19 Pandemic on Central Nervous System Infections Using FilmArray Meningitis/Encephalitis Panel and the Clinical Significance of Human Herpesvirus-6 Detection in Cerebrospinal Fluid

Ji E, Park SE, Oh SH, Chang CL, Lee YJ, Kim IS

Background: We aimed to determine the impact of the coronavirus disease 2019 (COVID-19) pandemic on central nervous system (CNS) infections by comparing FilmArray Meningitis/Encephalitis (ME) panel (BioFire Diagnostics, USA) data...
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