A5020276379- Blood groups and transfusion
- Genetics and Neurodevelopmental Disorders
- Blood transfusion and management
- Cardiac electrophysiology and arrhythmias
- Reconstructive Surgery and Microvascular Techniques
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Immunodeficiency and Autoimmune Disorders
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- Food Quality and Safety Studies
- Heart Rate Variability and Autonomic Control
- Blood donation and transfusion practices
- Blood disorders and treatments
- Renal Transplantation Outcomes and Treatments
- Cardiovascular Health and Disease Prevention
- Ion channel regulation and function
- Phytochemicals and Antioxidant Activities
- Urological Disorders and Treatments
- Acute Myeloid Leukemia Research
- Gastrointestinal Bleeding Diagnosis and Treatment
- Anatomy and Medical Technology
- Infective Endocarditis Diagnosis and Management
- Diabetes and associated disorders
Yonsei University
2015-2025
Severance Hospital
2018-2024
GTx (United States)
2023
Gangnam Severance Hospital
2016
National Health Insurance Service
2014-2016
National Health Insurance Service Ilsan Hospital
2014-2016
Kangwon National University
2006-2009
Abstract As genomic analysis technology has advanced, it become possible to sub-classify intrahepatic cholangiocarcinoma (ICC) at the histological or molecular level. Here, we verify recently suggested two subgroups of ICC in organoids model, compare characteristics between types. patients are subclassified into small-duct (SD) and large-duct (LD) subtype according characteristics. established, unsupervised principal component clustering separates each type ICC. Differential gene expression...
We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing diagnosis rate. assessed 74 EOE whose seizures started before 3 years age customized NGS that included 172 genes. Single nucleotide variants (SNVs) exonic chromosomal copy number variations (CNVs) were intensively examined our pipeline crosschecked commercial or pre-built...
Red blood cell transfusion is frequently prescribed in the emergency department for patients with gastrointestinal bleeding (GIB), but association of time to patient outcome has not been thoroughly evaluated. A retrospective cohort study analyzed adult data GIB who visited single university-affiliated hospital between January 2016 and April 2022. The associations outcomes, 30-day in-hospital mortality, were assessed. Among a total 2,284 patients, 1,395 (61.1%) received red within 4 h...
Pancreatic ductal adenocarcinoma (PDAC) shows poor prognosis and high malignancy due to the presence of cancer-initiating cells (CICs) characteristics tumor microenvironment (TME). Organoids are useful for studying PDAC, establishing organoids is dependent on stem cell growth factors, including Wnt signaling. Herein, using a conventional organoid culture system, we demonstrated that CD44(+)CD24(+) CD44(+)CD24(+)EpCAM(+) CICs were enriched >65% in PDAC patient-derived organoid. expressing...
Insulin resistance (IR) is a major factor associated with type 2 diabetes. Using homeostasis model assessment of insulin (HOMA-IR), we aimed to elucidate the factors IR risk, especially cumulative effect obesity and sarcopenia on IR.A total 8,707 adults from fourth fifth Korean National Health Examination Surveys were studied. Laboratory, anthropometric lifestyle analysed reveal their association HOMA-IR risk. Subjects divided into four groups according presence identify risk.We found that...
Abstract Background Blood transfusion is an essential part of medicine. However, many countries have been facing a national blood crisis. To address this ongoing shortage issue, there efforts to generate red cells (RBCs) in vitro, especially from human-induced pluripotent stem (hiPSCs). the best source hiPSCs for purpose yet be determined. Methods In study, were established three different hematopoietic cell sources—peripheral (PB), cord (CB) and bone marrow (BM) aspirates ( n = 3 each...
ABO antigen weakness is rarely observed in typing for transfusion. Hematologic diseases and associated gene mutations have been suggested as potential causes of this phenomenon, yet the precise etiology has not elucidated. Through genetic analysis data conducted over 7 years, we reconfirmed association between hematologic diseases, especially acute myeloid leukemia (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.12-5.83) myelodysplastic syndrome (OR, 6.94; CI, 2.86-16.83), discovered...
Anti-tuberculosis (AT) medications, including isoniazid (INH), can cause drug-induced liver injury (DILI), but the underlying mechanism remains unclear. In this study, we aimed to identify genetic factors that may increase susceptibility of individuals AT-DILI and examine interactions lead (INH)-induced hepatotoxicity. We performed a targeted sequencing analysis 380 pharmacogenes in discovery cohort 112 patients (35 77 controls) receiving AT treatment for active tuberculosis....
Abstract Objective We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes subgroups. Methods Patients unexplained pediatric‐onset were identified from the in‐house Severance Neurodevelopmental Disorders Epilepsy Database. All underwent either exome sequencing or multigene panels January 2017 December 2019, at Children's Hospital Korea. Clinical data extracted medical records. Results Of 957 studied, 947 (99.0%)...
Background and PurposeThe aim of this study was to determine the effectiveness stiripentol (STP) add-on therapy valproate clobazam in patients with Dravet syndrome (DS) according presence mutations sodium channel alpha-1 subunit gene (SC-N1A). MethodsWe performed direct sequencing analyze SCN1A 32 clinically confirmed DS, classified them into mutation (pathogenic or likely pathogenic) nonmutation groups based on American College Medical Genetics Genomics guidelines.We compared efficacy STP...
In this paper, a new algorithm and structure are proposed to count the number of inbound outbound people using impulse radio ultra-wideband (IR-UWB) radar sensors. Two IR-UWB sensors used which equipped with narrow beam antenna. make two adjacent thin layers vertically moving direction people. Using system, we propose Basically magnitude information each radar's received signal is mutual between radars improve performance algorithm. To prove performance, kinds tests implemented. The one...
Abstract Aims Early identification of individuals with insulin resistance (IR) and metabolically unhealthy state can help prevent various diseases improve quality life. In this study, we investigated a possible marker IR metabolic health status, alanine aminotransferase/aspartate aminotransferase (ALT/AST) ratio, aimed to confirm its feasibility in large population study. Methods A total 16,371 adults from Korean National Health Examination Survey were studied. Participants divided into four...
Intraparotid facial nerve schwannoma is a rare benign neoplasm. Due to its rarity, it not usually prioritized diagnosis before surgery and may therefore lead an unintentional treatment error. In this article, we report single case of intraparotid schwannoma. We were able make with frozen biopsy. A complete resection the mass while preserving was performed. Herein present our clinical experience regards process
Variants in the dynamin-1 (DNM1) gene typically cause synaptopathy, leading to developmental and epileptic encephalopathy (DEE). We aimed determine genotypic phenotypic spectrum of DNM1 beyond DEE.Electroclinical phenotyping genotyping patients with a variant were conducted for undergoing next-generation sequencing at our centre, followed by systematic review.Six heterozygous variants identified cohort. Three had typical DEE phenotype characterised spasms, tonic seizures severe-to-profound...
Inborn errors of immunity (IEI) include a variety heterogeneous genetic disorders in which defects the immune system lead to an increased susceptibility infections and other complications. Accurate, prompt diagnosis IEI is crucial for treatment plan prognostication. In this study, clinical utility exome sequencing (CES) was evaluated. For 37 Korean patients with suspected symptoms, signs, or laboratory abnormalities associated IEI, CES that covers 4,894 genes including related performed....
Abstract Objectives Clonal hematopoiesis (CH) is a condition in which healthy individuals have somatic mutations hematopoietic stem cells. It has been reported with increased risk of hematologic malignancy and cardiovascular disease the general population, but studies Korean populations comorbid entities are scarce. Methods White blood cells (WBCs) from patients gastric cancer (GC) (n=121) were analyzed using DNA-based targeted (531 genes) panel customized pipeline designed to detect single...
Gemella morbillorum (G. morbillorum) is a part of the normal human flora and an extremely rare cause infection [[1]]. However, Gemellae are also classified as opportunistic pathogens that able to severe localized generalized infections [[2]]. In this case report, we describe G. on chest wall after acupuncture therapy. Our patient was 74-year-old male who had thoracic contusion because bicycle accident. Initially, there were no open wounds or specific symptoms besides bruising mild pain. The...
Appropriate decision-making is critical for transfusions to prevent unnecessary adverse outcomes; however, transfusion in the emergency department (ED) can only be decided based on sparse evidence a limited time window.This study aimed identify factors associated with appropriate red blood cell (RBC) ED by analyzing retrospective data of patients who received at single center.This analyzed associations between appropriateness and sex, age, initial vital signs, an triage score [the Korean...