1.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
2.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.
3.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.
4.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.
5.Patients participation in multidisciplinary management in gastric cancer: regulation comparison and expert survey among major countries
Kyoyoung PARK ; Hyuk-Joon LEE ; Seong-Ho KONG ; Do Joong PARK ; Hyunsoo CHUNG ; Soo-Jeong CHO ; Seock-Ah IM ; Yoonjin KWAK ; Hye Seung LEE ; Eui Kyu CHIE ; Jimmy Bok Yan SO ; Zekuan XU ; Narikazu BOKU ; Jiafu JI ; Yuko KITAGAWA ; Raul J ROSENTHAL ; Takeshi SANO ; Han-Kwang YANG
Korean Journal of Clinical Oncology 2025;21(3):143-149
Purpose:
In Korea, the Health Insurance Review and Assessment Service (HIRA) mandates patient participation in outpatient multidisciplinary team (MDT) meetings as part of national cancer quality assessment. However, the necessity of involving patients and families in MDT discussions remains debatable. This study explored international expert perspectives on patient participation in gastric cancer MDTs.
Methods:
A cross-national expert survey was conducted in September 2021 among 15 gastric cancer specialists from Korea, China, Japan, Singapore, and the United States. The survey assessed the frequency of patient and family member attendance, perceived pros and cons, and preferences regarding mandatory versus selective involvement. Additionally, MDT structures and policies were reviewed by countries.
Results:
Most respondents reported that patients and families rarely or never attend MDT meetings: nine stated that patients are never included, three reported “usually not,” and three indicated “sometimes.” None consistently included patients. The most cited benefits were sharing opinions with patients and families simultaneously, followed by improved explanation of treatment and legal protection. Major concerns included hindered discussion, inefficiency, and logistical challenges. Only four respondents supported routine participation, while 11 favored case-dependent involvement.
Conclusion
International experts do not widely support mandatory patient participation in MDT meetings. A flexible approach that allows MDTs to operate with or without patient involvement may better reflect actual clinical practice.
6.Effects of the Floating Nurse System on Individual and Organizational Outcomes: A Pilot Study
Eun Hye KIM ; Ji Hye LEE ; Hyo Min IM ; So Ra AN ; Jin Hyun KIM ; Min Ho JUNG
Journal of Korean Clinical Nursing Research 2025;31(3):234-243
Purpose:
This pilot study aimed to evaluate the effects of the Floating Nurse system designed to improve nurses’ shift work conditions on individual and organizational outcomes.
Methods:
A non-equivalent posttest-only control group design was used. Individual-level data on job satisfaction, work-life balance, and turnover intention were collected through anonymous self-administered questionnaires from January 16 to 27, 2023, six months after system implementation. Organizational-level turnover rates were obtained from administrative records for the period before and after implementation (January-June and July-December 2022). The study included 352 nurses from 38 general wards at a tertiary hospital in Seoul-250 from 27 wards where the system was implemented (participation group) and 102 from 11 wards without the system (non-participation group).Multilevel modeling was applied, accounting for individual-level (Level 1) and ward-level (Level 2) factors.
Results:
Job satisfaction was significantly higher in the participation group than in the non-participation group (B=2.28, p=.008). Work-life balance was higher but not statistically significant (B=4.10, p=.120), and turnover intention showed no significant difference (B=-0.48, p=.204). Turnover rates decreased in both groups, with a larger reduction in the participation group (from 2.5% to 1.8%) than in the non-participation group (from 4.5% to 3.5%).
Conclusion
The Floating Nurse System improved job satisfaction and contributed to lower turnover rates, suggesting potential benefits for workforce stability. Although improvements in work-life balance and turnover intention were not statistically significant, enhanced job satisfaction may indirectly mitigate turnover intention. Further multi-site and longitudinal studies are warranted to confirm long-term effects.
7.Guidelines for Manufacturing and Application of Organoids: Brain
Taehwan KWAK ; Si-Hyung PARK ; Siyoung LEE ; Yujeong SHIN ; Ki-Jun YOON ; Seung-Woo CHO ; Jong-Chan PARK ; Seung-Ho YANG ; Heeyeong CHO ; Heh-In IM ; Sun-Ju AHN ; Woong SUN ; Ji Hun YANG
International Journal of Stem Cells 2024;17(2):158-181
This study offers a comprehensive overview of brain organoids for researchers. It combines expert opinions with technical summaries on organoid definitions, characteristics, culture methods, and quality control. This approach aims to enhance the utilization of brain organoids in research. Brain organoids, as three-dimensional human cell models mimicking the nervous system, hold immense promise for studying the human brain. They offer advantages over traditional methods, replicating anatomical structures, physiological features, and complex neuronal networks. Additionally, brain organoids can model nervous system development and interactions between cell types and the microenvironment. By providing a foundation for utilizing the most human-relevant tissue models, this work empowers researchers to overcome limitations of two-dimensional cultures and conduct advanced disease modeling research.
8.Dural Arteriovenous Fistula Manifested as Transient Global Amnesia
Seulgi CHOI ; Soo Ji YOON ; Soo Im JANG ; Saenal LEE ; Ji Yoon ANN ; Eun Ja LEE ; Sung-Ho WOO ; Kwang Ki KIM ; Hang-Rai KIM
Journal of the Korean Neurological Association 2024;42(2):179-182
Unruptured dural arteriovenous fistula (dAVF) manifests various symptoms including exophthalmos, headache, tinnitus, and retro-orbital pain. Transient global amnesia (TGA) is a clinical syndrome of reversible anterograde amnesia. Here, we report a 62-year-old woman with dAVF, manifested as TGA. This case emphasized that the clinicians should stay vigilance to the organic cause of TGA, especially in those complaining other symptoms besides amnesia such as pulsatile tinnitus and headache. Furthermore, our case supports a hypothetical patho-mechanism of venous congestion for TGA.
9.Right anterior mini-thoracotomy aortic valve replacement versus transcatheter aortic valve implantation in octogenarians: a single-center retrospective study
Ji Eun IM ; Eun Yeung JUNG ; Seok Soo LEE ; Ho-Ki MIN
Journal of Yeungnam Medical Science 2024;41(2):96-102
Background:
The aim of this study was to compare the early outcomes of octogenarians undergoing minimally invasive right anterior mini-thoracotomy aortic valve replacement (RAT-AVR) with those undergoing transcatheter aortic valve implantation (TAVI) for aortic valve disease.
Methods:
In this single-center retrospective study, data were collected from octogenarians before and after RAT-AVR and TAVI between January 2021 and July 2022. Short-term outcomes, including the length of hospital stay, in-hospital mortality, all-cause mortality, and other major postoperative complications, were compared and analyzed.
Results:
There were no significant differences in in-hospital mortality, stroke, acute kidney dysfunction requiring renal replacement therapy, length of intensive care unit stay, or length of hospital stay. However, the TAVI group had a higher incidence of permanent pacemaker insertion (10% vs. 0%, p=0.54) and paravalvular leaks (75% vs. 0%, p<0.001).
Conclusion
In the present study on octogenarians, both TAVI and RAT-AVR showed comparable short-term results. Although both procedures were considered safe and effective in the selected group, RAT-AVR had a lower incidence of complete atrioventricular block and paravalvular regurgitation.
10.Aortic valve replacement through right anterior mini-thoracotomy in patients with chronic severe aortic regurgitation: a retrospective single-center study
Eun Yeung JUNG ; Ji Eun IM ; Ho-Ki MIN ; Seok Soo LEE
Journal of Yeungnam Medical Science 2024;41(3):213-219
Background:
Aortic valve replacement (AVR) has recently been performed at many centers using a minimally invasive approach to reduce postoperative mortality, morbidity, and pain. Most previous reports on minimally invasive AVR (MiAVR) have mainly focused on aortic stenosis, and those exclusively dealing with aortic regurgitation (AR) are few. The purpose of this study was to investigate early surgical results and review our experience with patients with chronic severe AR who underwent AVR via right anterior mini-thoracotomy (RAT).
Methods:
Data were retrospectively collected in this single-center study. Eight patients who underwent RAT AVR between January 2020 and January 2024 were enrolled. Short-term outcomes, including the length of hospital stay, in-hospital mortality, postoperative complications, and echocardiographic data, were analyzed.
Results:
No in-hospital mortalities were observed. Postoperative atrial fibrillation occurred temporarily in three patients (37.5%). However, none required permanent pacemaker implantation or renal replacement therapy. The median values of ventilator time, length of intensive care unit stay, and hospital stay were 17 hours, 34.5 hours, and 9 days, respectively. Preoperative and postoperative measurements of left ventricular ejection fraction were similar. However, the left ventricular end systolic and diastolic diameters significantly decreased postoperatively from 42 mm to 35.5 mm (p=0.018) and 63 mm to 51 mm (p=0.012), respectively.
Conclusion
MiAVR via RAT is a safe and reproducible procedure with acceptable morbidity and complication rates in patients with chronic severe AR. Despite some limitations such as a narrow surgical field and demanding learning curve, MiAVR is a competent method for AR.

Result Analysis
Print
Save
E-mail