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The First Korean Case of Gorlin?Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing

Kwon WK, Kim HT, Yoon YC, Woo HI, Kim JW

Gorlin–Goltz syndrome, also known as basal cell nevus syndrome, is a condition that affects several body parts and increases the risk of developing various cancerous and noncancerous tumors. This syndrome...
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Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

Chung WY, Lee SJ, Kim HR, Jun KR

Chromosome 4q deletion syndrome is a rare disease caused by partial deletion of the long arm of chromosome 4. Phenotypic severity and expressivity vary among patients with chromosome 4q deletions,...
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Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis

Jang MA, Park S, Park JE, Kim YE, Ki CS

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Evaluating the Diagnostic Performance of Two Rapid Influenza Diagnostic Tests

Kim JJ, Cho Y, Lee SG

Rapid influenza diagnostic test (RIDT) is widely used for the diagnosis of influenza owing to its simplicity and convenience of use. This study aimed to evaluate the performance of a...
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Korean Clinical Laboratory Accreditation Program Quality Standards for Laboratory Management: Identifying a Compliance Gap with World Health Organization Quality System Essentials

Jeon BR, Yoon C, Jang MA, Cho SR, Kim S, Lee YK

Background The Laboratory Medicine Foundation (LMF) checklists explain the accreditation requirements of the program and reflect quality standards like those of the Clinical Laboratory Standards Institute (CLSI) or quality system essentials...
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Gradual Increase in Hematologic Malignancy in Korea from 2005 to 2015 Based on the National Health Insurance Service Data

Han Y, Kim YJ, Kim MJ, Byun JM, Youk T, Yoon HS, Lee JH, Lee WI, Park TS, Yoo J

Background Hematologic malignancies have a relatively lower prevalence than major solid cancers, although the incidence of hematologic malignancies has significantly increased in recent years. However, understanding the current status of hematologic...
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Evaluation of Automated Platelet Aggregation Test Using a Sysmex CS-5100 Analyzer

An GD, Jeong IH, Lim HH, Woo KS, Kim KH, Kim JM, Han JY

Background The platelet aggregation test is widely used to measure antiplatelet therapy response and to detect platelet function disorders. CS-5100 (Sysmex Co., Japan) is a recently introduced coagulation analyzer that can...
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Evaluation of Intact Parathyroid Hormone Levels in Plasma Samples: A Comparative Study Using Serum Samples

Kim DH, Kim SH, Choi HW, Kim H, Oh Ac, Hong YJ, Lee JK

Background Intraoperative measurement of intact parathyroid hormone (iPTH) levels is crucial for confirming complete removal of hyperfunctioning parathyroid glands during parathyroidectomy and for detecting parathyroid gland damage during thyroidectomy. The use...
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Clinical Utility of Fecal Neutrophil Gelatinase-Associated Lipocalin and Calprotectin as Biomarkers of Clostridioides (Clostridium) difficile Infection

Yi J, Kim H, Moon HW, Hur M, Yun YM

Background Current methods for diagnosing Clostridioides difficile infections (CDIs) fail to provide information on their severity. Fecal neutrophil gelatinase-associated lipocalin (NGAL) and calprotectin are candidate biomarkers for evaluating the severity of...
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Validation of Temperature Preservation in Specimen Transportation Systems

Lee SG, Kwon A, Park S, Seo S, Kim YJ, Shim H, Ham C, Kim JS

Background Clinical specimens are valuable materials that require a traceable management system. Maintenance of temperature and loss prevention during transport are important for the reliability of the clinical test results. Current...
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Comparison of Mac-2 Binding Protein Glycosylation Isomer, Fibroscan, and Other Fibrosis Markers for Assessing Liver Cirrhosis in Patients with Chronic Hepatitis B Virus-mediated Hepatocellular Carcinoma

Lee K, Yoo IY, Joh JW, Kim JM, Gwak GY, Sinn DH, Ha SY, Kang ES, Park HD

Background Liver cirrhosis is advanced stage of hepatic brosis caused by viral hepatitis. Mac-2 binding protein glycosylation isomer (M2BPGi) is a serum marker to diagnose and evaluate hepatic brosis progression. In...
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Recommendations for Liquid Chromatography-Mass Spectrometry in the Clinical Laboratory: Part II. Method Validation

Moon SY, Choi HJ, Kim S, Lee K, Lee SG, Song SH, Lee SY, Park HD, Clinical Mass Spectrometry Research Committee of theKorean Society of Clinical Chemistry

The demand for obtaining test results using liquid chromatography-tandem mass spectrometry (LC-MS/MS) for accurate diagnosis in the field of laboratory medicine is expected to increase, but it is still not...
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