1.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
2.Professional biobanking education in Korea based on ISO 20387
Jong Ok KIM ; Chungyeul KIM ; Sangyong SONG ; Eunah SHIN ; Ji-Sun SONG ; Mee Sook ROH ; Dong-chul KIM ; Han-Kyeom KIM ; Joon Mee KIM ; Yeong Jin CHOI
Journal of Pathology and Translational Medicine 2025;59(1):11-25
To ensure high-quality bioresources and standardize biobanks, there is an urgent need to develop and disseminate educational training programs in accordance with ISO 20387, which was developed in 2018. The standardization of biobank education programs is also required to train biobank experts. The subdivision of categories and levels of education is necessary for jobs such as operations manager (bank president), quality manager, practitioner, and administrator. Essential training includes programs tailored for beginner, intermediate, and advanced practitioners, along with customized training for operations managers. We reviewed and studied ways to develop an appropriate range of education and training opportunities for standard biobanking education and the training of experts based on KS J ISO 20387. We propose more systematic and professional biobanking training programs in accordance with ISO 20387, in addition to the certification programs of the National Biobank and the Korean Laboratory Accreditation System. We suggest various training programs appropriate to a student’s affiliation or work, such as university biobanking specialized education, short-term job training at unit biobanks, biobank research institute symposiums by the Korean Society of Pathologists, and education programs for biobankers and researchers. Through these various education programs, we expect that Korean biobanks will satisfy global standards, meet the needs of users and researchers, and contribute to the advancement of science.
3.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
4.Professional biobanking education in Korea based on ISO 20387
Jong Ok KIM ; Chungyeul KIM ; Sangyong SONG ; Eunah SHIN ; Ji-Sun SONG ; Mee Sook ROH ; Dong-chul KIM ; Han-Kyeom KIM ; Joon Mee KIM ; Yeong Jin CHOI
Journal of Pathology and Translational Medicine 2025;59(1):11-25
To ensure high-quality bioresources and standardize biobanks, there is an urgent need to develop and disseminate educational training programs in accordance with ISO 20387, which was developed in 2018. The standardization of biobank education programs is also required to train biobank experts. The subdivision of categories and levels of education is necessary for jobs such as operations manager (bank president), quality manager, practitioner, and administrator. Essential training includes programs tailored for beginner, intermediate, and advanced practitioners, along with customized training for operations managers. We reviewed and studied ways to develop an appropriate range of education and training opportunities for standard biobanking education and the training of experts based on KS J ISO 20387. We propose more systematic and professional biobanking training programs in accordance with ISO 20387, in addition to the certification programs of the National Biobank and the Korean Laboratory Accreditation System. We suggest various training programs appropriate to a student’s affiliation or work, such as university biobanking specialized education, short-term job training at unit biobanks, biobank research institute symposiums by the Korean Society of Pathologists, and education programs for biobankers and researchers. Through these various education programs, we expect that Korean biobanks will satisfy global standards, meet the needs of users and researchers, and contribute to the advancement of science.
5.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
6.Professional biobanking education in Korea based on ISO 20387
Jong Ok KIM ; Chungyeul KIM ; Sangyong SONG ; Eunah SHIN ; Ji-Sun SONG ; Mee Sook ROH ; Dong-chul KIM ; Han-Kyeom KIM ; Joon Mee KIM ; Yeong Jin CHOI
Journal of Pathology and Translational Medicine 2025;59(1):11-25
To ensure high-quality bioresources and standardize biobanks, there is an urgent need to develop and disseminate educational training programs in accordance with ISO 20387, which was developed in 2018. The standardization of biobank education programs is also required to train biobank experts. The subdivision of categories and levels of education is necessary for jobs such as operations manager (bank president), quality manager, practitioner, and administrator. Essential training includes programs tailored for beginner, intermediate, and advanced practitioners, along with customized training for operations managers. We reviewed and studied ways to develop an appropriate range of education and training opportunities for standard biobanking education and the training of experts based on KS J ISO 20387. We propose more systematic and professional biobanking training programs in accordance with ISO 20387, in addition to the certification programs of the National Biobank and the Korean Laboratory Accreditation System. We suggest various training programs appropriate to a student’s affiliation or work, such as university biobanking specialized education, short-term job training at unit biobanks, biobank research institute symposiums by the Korean Society of Pathologists, and education programs for biobankers and researchers. Through these various education programs, we expect that Korean biobanks will satisfy global standards, meet the needs of users and researchers, and contribute to the advancement of science.
7.Current Status of Flow Cytometric Immunophenotyping of Hematolymphoid Neoplasms in Korea
Mikyoung PARK ; Jihyang LIM ; Ari AHN ; Eun-Jee OH ; Jaewoo SONG ; Kyeong-Hee KIM ; Jin-Yeong HAN ; Hyun-Woo CHOI ; Joo-Heon PARK ; Kyung-Hwa SHIN ; Hyerim KIM ; Miyoung KIM ; Sang-Hyun HWANG ; Hyun-Young KIM ; Duck CHO ; Eun-Suk KANG
Annals of Laboratory Medicine 2024;44(3):222-234
Background:
Flow cytometric immunophenotyping of hematolymphoid neoplasms (FCIHLN) is essential for diagnosis, classification, and minimal residual disease (MRD) monitoring. FCI-HLN is typically performed using in-house protocols, raising the need for standardization. Therefore, we surveyed the current status of FCI-HLN in Korea to obtain fundamental data for quality improvement and standardization.
Methods:
Eight university hospitals actively conducting FCI-HLN participated in our survey.We analyzed responses to a questionnaire that included inquiries regarding test items, reagent antibodies (RAs), fluorophores, sample amounts (SAs), reagent antibody amounts (RAAs), acquisition cell number (ACN), isotype control (IC) usage, positiveegative criteria, and reporting.
Results:
Most hospitals used acute HLN, chronic HLN, plasma cell neoplasm (PCN), and MRD panels. The numbers of RAs were heterogeneous, with a maximum of 32, 26, 12, 14, and 10 antibodies used for acute HLN, chronic HLN, PCN, ALL-MRD, and multiple myeloma-MRD, respectively. The number of fluorophores ranged from 4 to 10. RAs, SAs, RAAs, and ACN were diverse. Most hospitals used a positive criterion of 20%, whereas one used 10% for acute and chronic HLN panels. Five hospitals used ICs for the negative criterion. Positiveegative assignments, percentages, and general opinions were commonly reported. In MRD reporting, the limit of detection and lower limit of quantification were included.
Conclusions
This is the first comprehensive study on the current status of FCI-HLN in Korea, confirming the high heterogeneity and complexity of FCI-HLN practices. Standardization of FCI-HLN is urgently needed. The findings provide a reference for establishing standard FCI-HLN guidelines.
8.Identification of signature gene set as highly accurate determination of metabolic dysfunction-associated steatotic liver disease progression
Sumin OH ; Yang-Hyun BAEK ; Sungju JUNG ; Sumin YOON ; Byeonggeun KANG ; Su-hyang HAN ; Gaeul PARK ; Je Yeong KO ; Sang-Young HAN ; Jin-Sook JEONG ; Jin-Han CHO ; Young-Hoon ROH ; Sung-Wook LEE ; Gi-Bok CHOI ; Yong Sun LEE ; Won KIM ; Rho Hyun SEONG ; Jong Hoon PARK ; Yeon-Su LEE ; Kyung Hyun YOO
Clinical and Molecular Hepatology 2024;30(2):247-262
Background/Aims:
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression.
Methods:
Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD.
Results:
After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort.
Conclusions
We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.
9.Efficacy of Retrobulbar Filler Injections for Correcting Enophthalmos Associated with Phthisis Bulbi or Anophthalmos
Sol Ah HAN ; Min Kyu YANG ; Yeong A CHOI ; Ho-Seok SA
Journal of the Korean Ophthalmological Society 2023;64(1):1-8
Purpose:
To describe the clinical outcome of retrobulbar injection of synthetic fillers to correct enophthalmos associated with phthisis bulbi or anophthalmos.
Methods:
We retrospectively reviewed the medical records of patients who underwent enophthalmos correction using retrobulbar filler injections at Asan Medical Center between January 2015 and October 2019, and who were followed for at least 6 months. We evaluated the number of injections and amount of filler injected, improvement in enophthalmos, interval between injections, and adverse effects of filler injection.
Results:
The study enrolled five patients (four females and one male). Two patients had anophthalmos after evisceration and three had phthisis bulbi. Two patients received hyaluronic acid (HA) filler only, one had collagen-polymethylmethacrylate (PMMA) filler only, and two had both fillers. The HA and collagen-PMMA filler volumes per injection were 1.0–1.4 and 0.75–1.0 mL, respectively. The average degree of enophthalmos, compared to the contralateral eye, was 1.8 mm; the amount of enophthalmos correction per 1 mL of filler injection was 1.5 mm for HA filler and 1.4 mm for collagen-PMMA filler. The longest duration of enophthalmos correction was 15 months for HA filler and 25 months for collagen-PMMA filler. There were no significant adverse effects, but anterior migration of HA filler was observed in one case that resolved with hyaluronidase injection.
Conclusions
Retrobulbar filler injection is a safe, effective, minimally invasive procedure for correcting enophthalmos in patients with anophthalmos or phthisis bulbi. If HA filler injection shows good outcomes without adverse effects, semi-permanent fillers can be used for long-term maintenance of enophthalmos correction. Further studies with more patients and long-term follow-up are needed to compare the effectiveness of various fillers.
10.Predictors of Progression of Tricuspid Regurgitation in Patients with Persistent Atrial Fibrillation
Jiyeon SONG ; Jae Yeong CHO ; Kye Hun KIM ; Ga Hui CHOI ; Nuri LEE ; Hyung Yoon KIM ; Hyukjin PARK ; Hyun Ju YOON ; Ju Han KIM ; Youngkeun AHN ; Myung Ho JEONG ; Jeong Gwan CHO
Chonnam Medical Journal 2023;59(1):70-75
Previous studies have shown that tricuspid regurgitation (TR) can be developed in patients with atrial fibrillation (AF) due to annular dilatation. This study aimed to investigate the incidence and predictors of the progression of TR in patients with persistent AF. A total of 397 patients (66.9±11.4 years, 247 men; 62.2%) with persistent AF were enrolled between 2006 and 2016 in a tertiary hospital, and 287 eligible patients with follow-up echocardiography were analyzed. They were divided into two groups according to TR progression (progression group [n=68, 70.1±10.7 years, 48.5% men] vs. non-progression group [n=219, 66.0±11.3 years, 64.8% men]). Among 287 patients in the analysis, 68 had worsening TR severity (23.7%). Patients in the TR progression group were older and more likely to be female. Patients with left ventricular ejection fraction <50% were less frequent in the progression group than those in the non-progression group (7.4% vs. 19.6%, p=0.018). Patients with mitral valve disease were more frequent in the progression group. Multivariate analysis with COX regression demonstrated independent predictors of TR progression, including left atrial (LA) diameter >54 mm (HR 4.85, 95%CI 2.23-10.57, p<0.001), E/e’ (HR 1.05, 95%CI 1.01-1.10, p=0.027), and no use of antiarrhythmic agents (HR 2.20, 95%CI 1.03-4.72, p=0.041). In patients with persistent AF, worsening TR was not uncommon. The independent predictors of TR progression turned out to be greater LA diameter, higher E/e’, and no use of antiarrhythmic agents.

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