Seung Hwan Oh

Seung Hwan Oh
Pusan National University | PNU · Department of Laboratory Medicine

M.D.

About

122
Publications
14,148
Reads
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1,514
Citations
Citations since 2016
43 Research Items
1072 Citations
2016201720182019202020212022050100150200
2016201720182019202020212022050100150200
2016201720182019202020212022050100150200
2016201720182019202020212022050100150200
Introduction
* Job: Clinical Pathologist (Laboratory Physician) * Research interest: Immunogenetics, Molecular Diagnostics, Molecular Hematology, Transfusion, Transplantation
Additional affiliations
August 2019 - present
Pusan National University Yangsan Hospital
Position
  • Professor
May 2007 - July 2019
Inje University College of Medicine
Position
  • Professor (Associate)
March 2001 - February 2005
Pusan National University Hospital
Position
  • Medical Doctor
Education
March 1994 - February 2000
Pusan National University
Field of study
  • Medicine

Publications

Publications (122)
Article
Pontocerebellar hypoplasia is a heterogeneous group of rare genetic neurodevelopmental disorders marked by early degeneration of the cerebellum and brainstem. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH; MIM#300749) is a disorder caused by pathogenic loss-of-function variants in CASK CASK gene...
Article
Background: Transfusion of ABO blood group-mismatched blood or administration to the wrong recipient may result in fatal adverse events. To prevent these types of errors, various strategies have been employed. Recently, we developed a novel sample collection workflow for the pre-transfusion crossmatching test and patient recognition. This study ai...
Article
See editorial on page 721–724, in this issue
Article
Full-text available
HLA‐DRB1*01:129 differs from HLA‐DRB1*01:01:01:01 by one nucleotide in codon 216. This article is protected by copyright. All rights reserved.
Article
Full-text available
Objectives: Various preanalytical factors, including the collection tube, storage conditions, and centrifugation, affect the detection results of plasma cell-free DNA (cfDNA). We compared the effect of different centrifugation protocols on the detection of EGFR mutations in cfDNA. Methods: We analyzed 117 plasma specimens from 110 patients with...
Article
Triple-negative breast cancer (TNBC) has higher loco-regional recurrence and visceral metastasis compared to other breast cancer subtypes; however, little is known about the molecular pathogenesis of TNBC. Therefore, we compared the mutation profiles of early TNBC with those of hormone receptor-positive (HR+) and/or human epidermal growth factor re...
Article
Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and a...
Article
Full-text available
The immune-acquired responses after vaccination vary depending on the type of vaccine and the individual. The purpose of this study was to investigate the relationship between the acquisition of immunity and the side effects, health status, and lifestyle after completion of the second dose of AZD1222. Blood samples were collected after a second dos...
Article
Beta‐propeller protein‐associated neurodegeneration (BPAN) is associated with mutations in the autophagy gene WDR45. The aim of this study was to demonstrate autophagic defects in a patient with BPAN. We assayed autophagic markers using western blot analysis and immunocytochemistry and applied transmission electron microscopy (TEM) to visualize the...
Article
Mutations of phosphatidylinositol glycan biosynthesis class T (PIGT), which encodes a subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, can lead to multiple anomalies, including seizures, intellectual disabilities, facial dysmorphism, and various congenital malformations. We performed whole-exome sequencing in a patient with s...
Article
Formate is a promising environmentally friendly and sustainable feedstock synthesized from syngas or carbon dioxide. Methylorubrum extorquens is a type II methylotroph that can use formate as a carbon source. It accumulates polyhydroxyalkanoates (PHAs) inside the cell, mainly producing poly-3-hydroxybutyrate (PHB), a degradable biopolymer. Owing to...
Article
Background: Patients with ongoing or expected bleeding require platelet (PLT) transfusions; however, owing to the testing required after a blood donation, manufacturing PLT products may take 1.5-2.0 days after a request is made. This supply-demand mismatch leads clinicians to retain spare PLTs for transfusions, leading to increased PLT discard rat...
Article
Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks...
Preprint
Full-text available
Background Triple-negative breast cancer (TNBC) has higher loco-regional recurrence and visceral metastasis compared to other breast cancer subtypes; however, little is known about the molecular pathogenesis and therapeutic targets of TNBC. Therefore, we compared the mutation profiles of early TNBC with those of hormone receptor-positive (HR+)/huma...
Article
Paired box (PAX) 2, encoded on chromosome 10 in humans, plays a key role in kidney development. The first 3 exons of the gene are highly conserved among species. PAX2 mutations in autosomal dominant papillorenal syndrome (OMIM #120330) are associated with congenital anomalies of the kidney, urinary tract, and eye. A 37-year-old male was admitted to...
Article
Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecanopathies have emerged as a phenotype of genetic skeletal disease in humans. A heterozygous...
Article
Objective: Transplantations may require massive transfusion of blood products. Therefore, blood banks need to predict, prepare, and supply the required amount of blood products. Methods: We measured the volume of transfused blood components as red blood cells, fresh frozen plasma, platelets, and cryoprecipitate in 54 and 89 patients who received...
Article
Full-text available
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor...
Article
Full-text available
Purpose: Next Generation Sequencing (NGS) technology is a highthroughput method for genome sequencing which assists clinicians with diagnosis of patients with suspected genetic disorders. This study was to investigate diagnostic yield and clinical utility of whole exome sequencing prospectively in the rare genetic diseases. Method: WES was performe...
Article
Background: Elevated whole blood viscosity (WBV) is associated with increasing blood flow resistance in the microcirculation and is used to predict the occurrence and outcome of cardiovascular diseases. Objective: We evaluated the analytical performance of the ZL 6000i (Zonci Technology, Beijing, China), new fully automated cone-plate rotational...
Article
Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene...
Article
Chromosomal rearrangements of the MLL gene are responsible for 5-10% of all acute leukemias, biphenotypic leukemias and myelodysplastic syndromes. The large number of known MLL fusions (>80) renders a precise diagnosis a demanding task. Even though all MLL rearrangements are associated with high-risk acute leukemia, the outcome (poor or very poor)...
Article
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The function and mechanism of action of MLL–TET1 (MT1) fusion protein in hematological cells are unclear and require further investigation. In the present study, we found that the MT1 fusion protein attenuated the expression of Cebpa, Csf1r, and Cd11b and inhibited the differentiation of myeloid progenitor cells. Increased binding of the MT1 fusion...
Article
Full-text available
Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here, we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified....
Article
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So far, three cases of CD4+/CD56+ hematologic malignancies with MLL rearrangements have been reported as rare cases of BPDCN with MLL rearrangement (Table 1). The leukemic cells reported in the literature expressed the myeloid and monocytic markers CD33, CD117, CD11c, CD15, or CD64, which were not specific enough to identify a specific lineage [3,...
Article
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Here, we report a case of Cowden syndrome with an unusual clinical course of late-onset oral papillomatosis and a novel germline PTEN mutation. Cowden syndrome is the most common phosphatase and tensin homolog hamartomatous tumor syndrome. It is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as tri...
Article
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Background: DNA methyltransferase 3A (DNMT3A) mutation was recently introduced as a prognostic indicator in normal karyotype (NK) AML and we evaluated the incidence and prognostic impact of DNMT3A mutations in Korean NK AML patients. Methods: Total 67 NK AML patients diagnosed during the recent 10 years were enrolled. DNMT3A mutations were analy...
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The XN-series (Sysmex, Japan) is the new hematology analyzer from Sysmex, with new channels to improve the accuracy of differential leukocyte count and platelet count in the low cell count range. We evaluated the analytical performance and low white blood cell (WBC) mode of the XN-2000.
Article
Episodic ataxia type 2 (EA-2) is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. EA-2 is known to be caused by mutations of the CACNA1A gene on chromosome 19q13. We examined a family of EA-2 with a novel mutation of the CACNA1A gene showing characteristic ocular symptoms. A-36-year woman visited our hospital with paro...
Article
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The aim of this study is to investigate useful perioperative monitoring markers by comparing serial levels of serum procalcitonin (PCT), interleukin 6 (IL-6), and C-reactive protein (CRP) in routine surgical circumstances. In 285 surgeries of 277 patients, blood samples were obtained serially, at least three times per patient: within 48 h before su...
Article
Kidney transplantation is the most desired modality of renal replacement therapy for patients with end-stage renal disease (ESRD). We have attempted to expand the organ donor pool through several methods, including the use of expanded donor criteria. Although previously transplanted kidneys are rarely reused, they can be suitable for transplantatio...
Article
Hairy cell leukemia (HCL) is a very rare mature B-cell neoplasm and its simultaneous occurrence with chronic myeloid leukemia has been reported in only three cases. The pathogenesis and relationship of the two diseases are not clear. Here we report a case of HCL expressing a BCR/ABL1 clone, which showed molecular remission of the fusion clones and...
Article
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In the early stages of non-Hodgkin lymphoma (NHL), it can be difficult to recognize minimal morphological changes in the bone marrow (BM). In particular, when the quality of the BM biopsy is poor, determining BM involvement is limited to microscopic findings on BM aspiration. In this study, we compared the results of clonal immunoglobulin (IG) gene...
Article
The new allele B*46:39 showed a single-nucleotide substitution compared with B*46:01 at codon 185 (CCA/ACA).
Article
Primary extranodal natural killer (NK)/T-cell lymphoma (NTCL) of the gastrointestinal tract is extremely rare. It has an aggressive clinical course with a high mortality rate; early diagnosis is usually difficult because patients show nonspecific symptoms. We describe a case of primary NTCL of the small intestine in a 45-year-old ethnic Korean woma...
Article
Full-text available
Chromosomal rearrangements of the human MLL (mixed lineage leukemia) gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long-distance inverse-polymerase chain reaction to characterize the chromosomal rearrangement of individual acute leukemia patients. We present data of the molecular characteri...
Article
Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candida...
Article
Blood chimaera is a rare but important issue for immunohaematology laboratories. Several molecular approaches, such as ABO genotyping, human leucocyte antigen (HLA) typing and DNA short tandem repeat (STR) analysis, have been used to identify chimaerism. Unfortunately, the minor allele population can be overlooked by PCR-based methods, which prefer...
Article
Full-text available
In this study, we report the first Korean case of an anti-Gerbich (Ge) alloantibody to a high-incidence antigen that belongs to the Ge blood group system. The alloantibody was detected in a middle-aged Korean woman who did not have a history of transfusion. Her blood type was B+, and findings from the antibody screening test revealed 1+ reactivity...