Publications by authors named "Yong Gon Cho"

Cell-based artificial platelet production has made remarkable progress over the past three decades, driven by the need for safe and stable platelet sources in the face of donor limitations and transfusion-related risks. This review provides a chronological overview of the evolution of in vitro platelet production from various cell sources (CD34+ hematopoietic stem cells, embryonic stem cells, induced pluripotent stem cells (iPSCs), and others) and highlights key advances in the field. We outline developments from the foundational experiments of the 1990s, through the introduction of iPSCs in the mid-2000s, to the adoption of three-dimensional culture and bioreactor technologies in the late 2010s and the emergence of clinical trials in the 2020s.

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Dysbiosis in the bile microbiota of cholangiocarcinoma (CCA) patients suggests a potential role for microbial alterations in the pathogenesis of CCA. This study aimed to investigate bile microbial communities in patients with CCA and compare them to those in individuals with benign biliary diseases as a control (CTR) group. Microbial profiling was conducted using next-generation sequencing (NGS), targeting the V3-V4 regions of the 16S rRNA gene, followed by bioinformatics analysis using the VSEARCH and EzBioCloud platforms.

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Gastric cancer (GC) persists as the fourth most prevalent cause of global cancer-related mortality, presenting a challenge due to the scarcity of available therapeutic strategies. Precision medicine is crucial not only in the treatment but also in the management of GC. We performed gene panel sequencing with Oncomine focus assay comprising 52 cancer-associated genes and MSI analysis in 100 case-matched gastric cancer cases.

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  • 16p11.2 copy number variations (CNVs) are common genomic disorders, and the microdeletion in this region shows a wide range of symptoms and developmental outcomes across individuals.
  • An analysis involving ten patients from six families identified various breakpoints within the microdeletion, with most patients experiencing developmental delays, intellectual disabilities, and other health issues like hypotonia and obesity.
  • The study highlights the significant variability in clinical phenotypes even among individuals with identical 16p11.2 microdeletions, complicating diagnosis and understanding of the condition.
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  • - X-linked recessive ichthyosis (XLI) is a genetic skin condition marked by dark brown, dry skin and polygonal scales, as seen in a 9-month-old infant and several family members.
  • - Genetic analysis identified a significant deletion on chromosome Xp22, affecting the gene associated with XLI, confirmed through multiplex ligation-dependent probe amplification (MLPA).
  • - The study highlights the necessity for advanced genetic screening methods like CNV analysis and MLPA to accurately diagnose individuals suspected of having XLI.
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Background: Simultaneous bilineage hematologic malignancies are rare; however, several cases of acute myeloid leukemia (AML) and T-lymphoblastic lymphoma (T-LBL) co-occurrence have been reported. A standard treatment for simultaneous AML and T-LBL has not yet been established, and its prognosis is very poor. Further studies to develop standard treatments are required to increase patient survival rates.

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Background: The clinical utility of circulating tumor DNA (ctDNA) in the early detection of tumor mutations for targeted therapy and the monitoring of tumor recurrence has been reported. However, the analytical validation of ctDNA assays is required for clinical application.

Methods: This study evaluated the analytical performance of the Oncomine Lung cfDNA Assay compared with the cobas Mutation Test v2.

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Mutations in ITM2B have been reported to be associated with several familial dementias, such as Familial British dementia and familial Danish dementia. These are autosomal dominant disorders characterized by progressive dementia with an onset at around the fifth decade of life. We describe a family with cognitive impairment caused by a novel ITM2B p.

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: There are reports of false qualitative HBsAg results, because of various causes, such as samples with low HBsAg concentrations that may produce false positives. The main aims of this study were to validate the analytical accuracy and to assess the utility of the Elecsys assay compared to that of the qualitative HbsAg assay as a screening test in resolving equivocal qualitative HbsAg results. The limit of blank (LoB), the limit of detection (LoD), the limit of quantification (LoQ), and linearity were estimated to validate the analytical accuracy of the Elecsys HBsAg II Quant assay.

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Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study that analyzes copy number variation (CNV) using next-generation sequencing (NGS). A 7-year-old girl with jaundice was admitted for evaluation of a persistent hemolytic anemia.

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Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS patients are unaware of their genetic defects. Herein, we report a Korean patient with MFS and annuloaortic ectasia caused by an intronic c.

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  • Malignant hyperthermia (MH) is a rare genetic disorder affecting muscle calcium regulation, triggered by certain anesthetics like sevoflurane in individuals with the susceptibility.
  • A 14-year-old Korean boy with MH and multi-minicore myopathy displayed symptoms such as severe flexion contractures and was successfully treated with intravenous dantrolene and sodium bicarbonate during a surgical procedure.
  • Genetic testing revealed a novel mutation in the RYR1 gene linked to MH, and tests indicated his B lymphocytes had abnormal calcium responses, highlighting the condition's complexity and expanding understanding of its clinical presentation.
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  • The Korean Undiagnosed Diseases Program (KUDP) ran for three years to help patients who didn't have a diagnosis and to create systems for better research in the future.* -
  • A total of 458 patients were studied, and doctors were able to find diagnoses for over half of them, using advanced genetic testing methods.* -
  • The program also built a special research lab and created a computer system to help manage and share information about these patients and their conditions.*
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Background: Hypomyelinating POLR3-related leukodystrophy is a group of rare neurological diseases characterized by degeneration of the white matter of the brain with different combinations of major clinical findings. Here we report the first Korean POLR3-related leukodystrophy caused by bi-allelic POLR3A c.1771-6C > G and novel c.

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Objectives: Atypical hemolytic uremic syndrome (aHUS) is characterized by a triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure resulting from platelet thrombi in the microcirculation of the kidney and other organs, in the absence of a preceding diarrheal illness. This report describes a case in which copy number variation (CNV) analysis using next-generation sequencing (NGS) identified the 3/1 deletion in a patient with aHUS.

Methods: A 49-year-old Korean female was diagnosed with aHUS based on clinical findings, including schistocytes in peripheral blood and marked thrombocytopenia, suggesting the presence of thrombotic microangiopathy, elevated serum lactate dehydrogenase, and acute kidney injury.

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Left ventricular non-compaction (LVNC) is a very rare primary cardiomyopathy with a genetic etiology, resulting from the failure of myocardial development during embryogenesis, and it carries a high risk of left ventricular dysfunction, thromboembolic phenomenon, and malignant arrhythmias. Here, we report the first case of familial LVNC in Korea, caused by a novel missense variant. We performed duo exome sequencing (ES) to examine the genome of the proband and his father.

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The room temperature storage used for platelets worldwide leads to platelet storage lesion (PSL) and risk of bacterial growth, limiting platelet shelf life and safety in transfusion. Thus, there is a need for an alternative storage method that can serve as effective temperature storage for platelet concentrates (PCs). In the previous investigation, we have shown that N-acetylcysteine (NAC) is a potential candidate for an additive solution to retain platelet characteristics during cold storage for up to 5 days.

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We report a new paper-based multiplex analytical device (mPAD) for simultaneous screening of three analytes (glutamate dehydrogenase, toxin A, and toxin B) known as biomarkers for Clostridioides difficile infection (CDI). To overcome the limitation of common rapid assays (e.g.

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The immunization schedule for the Japanese encephalitis (JE) vaccine in Korea is a two-dose primary series at 12-24 months of age, followed by booster doses 12 months after the second dose and at the ages of 6 and 12 years. Although the number of JE cases has markedly decreased after the universal vaccination program, JE predominantly occurs in adults. The aim of this study was to assess the age-specific prevalence of the JE-neutralizing antibody (NTAb) among adolescents and adults in Korea.

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Background: Reports on metastatic or invasive infections by hypervirulent Klebsiella pneumoniae (hvKP) have increased recently. However, the effects of its virulence on clinical course and outcomes in pneumonia patients have rarely been addressed. We assessed and compared the clinical features of hvKp and classic K.

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Estrogen withdrawal in post-menopausal women leads to overactivation of osteoclasts, which contributes to the development of osteoporosis. Inflammatory cytokines are known as one of mechanisms of osteoclast activation after estrogen deficiency. SPA0355 is a thiourea derivative that has been investigated for its antioxidant and anti-inflammatory activities.

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Article Synopsis
  • Thalassemia, a blood disorder more common in Southeast Asia, is gaining attention in Korea due to a rise in Southeast Asian immigrants, prompting this study to examine its prevalence.
  • The study analyzed 669 individuals under 30, comparing findings between multiethnic and Korean groups, and performed tests for thalassemia-related gene mutations on those with abnormal blood results.
  • Results showed a small percentage of thalassemia carriers among multiethnic subjects (1.5% for α-thalassemia and 1.9% for β-thalassemia minor), indicating an increase in thalassemia cases linked to immigration trends.
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