1.Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease
Eun Pyo HONG ; Eun Jin HA ; Dong Hyuk YOUN ; Yuwhan CHUNG ; Kang Min KIM ; Sung Ho LEE ; Won-Sang CHO ; Hyun-Seung KANG ; Jin Pyeong JEON ; Jeong Eun KIM ;
Journal of Clinical Neurology 2026;22(2):160-172
Background:
and Purpose Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WESbased association study aimed at identifying genetic modifiers implicated in MMD.
Methods:
This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WESidentified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed.
Results:
Fourteen mutations reached the genome-wide significance criterion (p<5×10-8 ), among which the p.R4810K mutation in the ring finger protein 213 gene (RNF213) showed the strongest significance (odds ratio=117.4, p=8.54×10-24 ). Notably, two mutations—p.G576S (alpha-glucosidase [GAA]) and p.D54N (charged multivesicular body protein 6 [CHMP6])— exhibited high CADD scores of 32 and 25, respectively, whereas the RNF213 p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (p<1×10-8 ).The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: GAA, RNF213, CHMP6, and CARD14 (p=5×10-19 to 4×10-7 ). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (p<3×10-8 ).
Conclusions
This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.
2.Current status of hepatitis C treatment and its barriers in Jeonbuk, Republic of Korea
Ji Hyeon KANG ; You Jeong MOON ; Ung-Gyu KIM ; Jung-Im PARK ; Chang Hun LEE ; In Hee KIM ; Ju-Hyung LEE ; Jin GWACK
Osong Public Health and Research Perspectives 2026;17(2):188-192
Objectives:
In alignment with the World Health Organization’s goal of eliminating hepatitis C, this study assessed the current treatment status and reasons for non-treatment among patients with hepatitis C in Jeonbuk State, Republic of Korea, to inform strategies for improving care engagement.
Methods:
Among 311 individuals diagnosed with hepatitis C and reported through the NationalNotifiable Infectious Disease Surveillance system between January 2023 and June 2024, 208 patients were surveyed after excluding those who had died or could not be contacted.Statistical analyses included the chi-square test, the Cochran-Armitage test for trend, and logistic regression.
Results:
Overall, 116 participants (55.8%) reported having received antiviral therapy. Among the 92 untreated individuals, the most common reason for non-treatment was the absence of symptoms (n = 23; 25.0%), followed by the burden of drug costs (n = 21; 22.8%).
Conclusion
These findings highlight suboptimal treatment uptake and key barriers that may hinder progress toward hepatitis C elimination. Expanding screening and strengthening linkage-to-care strategies, while addressing financial barriers, will be essential to achievingnational elimination targets.
3.Nationwide Survey on Endoscopic Submucosal Dissection for Early Gastric Cancer in Korea: Results From the Korean College of Helicobacter and Upper Gastrointestinal Research (KCHUGR) 2023 Survey
Jae Yong PARK ; Jeong Hoon LEE ; Tae-Se KIM ; Da Hyun JUNG ; Bong Eun LEE ; Yonghoon CHOI ; Wan-Sik LEE ; Young-Il KIM ; Sun Hyung KANG ; Hyunsoo CHUNG ; Su Jin KIM ; Joon Sung KIM ; Donghoon KANG ; Su Youn NAM ; Seung Han KIM ; Hyo-Joon YANG ; Hyun LIM ; Jin LEE ; Seon-Young PARK ; Seung-Woo LEE ; Sun Moon KIM ; Sam Ryong JEE ; Dae Young CHEUNG ; Chung Hyun TAE ; Seokin KANG ; Sung Chul PARK ; Seung In SEO ; Cheol Min SHIN ; Kee Don CHOI ; Jong Yeul LEE ;
Journal of Gastric Cancer 2026;26(2):169-183
Purpose:
Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research.
Materials and Methods:
Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes.Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes.
Results:
Data from 5,460 ESD cases from 5,250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days.
Conclusions
This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.
4.Clinical Outcomes of Endoscopic Radiofrequency Stretta Therapy for Gastroesophageal Reflux Disease Treatment: A Retrospective Analysis From2 Tertiary Centers in Korea
Hyun LIM ; Yuri KIM ; Jin Hee NOH ; Jung In LEE ; Eun Jeong GONG ; Boram CHA ; Chan Hyuk PARK ; Da Hyun JUNG ; Ju Yup LEE ; Sun Hyung KANG ; In Kyung YOO ; Joo Young CHO ; Do Hoon KIM ;
Journal of Neurogastroenterology and Motility 2026;32(2):290-297
Background/Aims:
Endoscopic anti-reflux therapy is a therapeutic option for gastroesophageal reflux disease (GERD), providing durable effects. However, clinical data from Korea remain limited. This study evaluates the clinical outcomes of endoscopic radiofrequency Stretta therapy in Korean patients.
Methods:
A retrospective analysis was conducted on 71 patients with GERD who underwent Stretta therapy at 2 tertiary hospitals in Korea between November 2015 and July 2021. Clinical outcomes, including patient satisfaction, medication cessation or reduction, and complications, were evaluated. Pre- and post-procedural esophageal manometry and 24-hour pH monitoring test results were also analyzed.
Results:
Patient satisfaction rates at 1, 6, and 12 months post-procedure were 54.7% (35/64), 70.0% (28/40), and 75.0% (21/28), respectively. Medication cessation or reduction was achieved in 31.2% (20/64) at 1 month, 70.0% (28/40) at 6 months, and 67.9% (19/28) at 12 months. Esophageal manometry (n = 21) showed no significant changes in mean lower esophageal sphincter pressure (18.7 mmHg [2.5-52.9] vs 17.4 mmHg [0.0-43.0], P = 0.702) or mean integrated relaxation pressure (8.2 mmHg [0.0-28.0] vs 10.1 mmHg [0.0-31.0], P = 0.840). The 24-hour pH monitoring (n = 18) demonstrated a nonsignificant decrease in acid exposure time (pH < 4) from 2.3% (0.0-8.4) to 1.6% (0.0-7.3) (P = 0.182). Similarly, the DeMeester score decreased non-significantly from 8.4 (0.8-27.7) to 6.6 (0.8-21.8) (P = 0.352). No procedure-related complications occurred.
Conclusion
Endoscopic radiofrequency Stretta therapy appears to be a safe treatment option for GERD and may provide favorable patient satisfaction and medication reduction.
5.2025 Focused Update of the Seoul Consensus on Gastroesophageal Reflux Disease: Evidence-based Recommendations on Acid Suppressive Therapy
Cheal Wung HUH ; Jin Won CHANG ; Nak-Hoon SON ; Da Hyun JUNG ; Hye-Kyung JUNG ; Seung Joo KANG ; Seung Young KIM ; Miyoung CHOI ; Da Mi JEONG ; Hyun Jin KIM ; Moo In PARK ; In-Kyung SUNG ; Young Hoon YOUN ; Kwang Jae LEE ;
Journal of Neurogastroenterology and Motility 2026;32(1):7-18
Gastroesophageal reflux disease (GERD) is a chronic and relapsing gastrointestinal disorder characterized by the reflux of gastric contents into the esophagus, leading to troublesome symptoms and/or complications. Since the publication of the 2020 Seoul Consensus on GERD, significant new evidence has emerged, particularly regarding acid-suppressive therapies and diagnostic approaches. This 2025 focused update aims to refine GERD management strategies by incorporating the latest evidence on acid suppressive therapies and regional considerations in Asian populations. This study builds on the 2020 Seoul Consensus by integrating systematic reviews, meta-analyses, and expert consensuses to offer updated recommendations for the definition and medical treatment of GERD. These guidelines incorporate recent advances in acid-suppressive therapies, particularly potassium-competitive acid blockers, and adopt updated diagnostic frameworks in accordance with the Lyon Consensus 2.0. Key clinical questions were identified and structured using the following format: Population, Intervention, Comparator, Outcome. The resulting recommendations address the initial treatment, long-term maintenance strategies, and role of personalized therapy based on disease severity, such as the grade of reflux esophagitis. Six key statements are presented: updated definition and classification of GERD (Statement 1); initial and long-term treatment strategies tailored to GERD phenotypes, such as non-erosive reflux disease, mild erosive esophagitis, and severe erosive esophagitis (Statements 2-5); and dose optimization strategies for long-term safety (Statement 6). These guidelines aim to support gastroenterologists and general healthcare providers in making individualized evidence-based decisions for GERD management.
6.A New Methoxyflavonoid Rutinoside and PTP1B-Inhibitory Phenolic Compounds from the Water Extract of Areca catechu L.
Manh Tuan HA ; Trong Trieu TRAN ; Thu Huong TRAN ; Seung Eui MIN ; Sang-Jin PARK ; Kang-Hyun HAN ; Jungmoo HUH ; Jeong Ah KIM ; Byung Sun MIN
Natural Product Sciences 2026;32(1):50-55
Phytochemical investigation of the water extract and alkaloid fraction of Areca catechu L. led to theisolation of one new methoxyflavonoid rutinoside (1), together with eleven known compounds (2−12), five of which (8−12) belong to the pyridine alkaloid class. The structure of the new compound was elucidated through extensive spectroscopic analyses, including 1D and 2D NMR experiments and high-resolution mass spectrometry.Notably, rhamnazin-3-O-rutinoside (2) is reported here for the first time from this species. The isolated compounds were evaluated for their inhibitory activity against protein tyrosine phosphatase 1B (PTP1B) using a p-nitrophenyl phosphate assay. Flavonoids (3 and 4) and stilbene (5) exhibited notable inhibitory activity, with IC50 values of 13.30 ± 0.71, 13.44 ± 0.84, and 8.68 ± 0.12 μM, respectively. In contrast, methoxyflavonoid rutinosides (1 and 2) and pyridine alkaloids (8−12) did not show significant inhibitory activity against PTP1B.These findings provide additional chemical insights into A. catechu and its constituents in relation to PTP1B inhibition.
7.Vitamin/mineral and non-vitamin/ non-mineral supplement use of breast cancer survivors in Korea
Jioh KANG ; Jiyoung YOUN ; Hyun Jeong CHO ; Hyeong-Gon MOON ; Dong-Young NOH ; So-Youn JUNG ; Eun Sook LEE ; Zisun KIM ; Hyun Jo YOUN ; Jihyoung CHO ; Young Bum YOO ; Se Kyung LEE ; Jeong Eon LEE ; Seok Jin NAM ; Jun Won MIN ; Yoo Seok KIM ; Jihyoun LEE ; Seho PARK ; Joon JEONG ; Jung Eun LEE
Nutrition Research and Practice 2026;20(2):333-345
BACKGROUND/OBJECTIVES:
Dietary supplement use is common among breast cancer survivors, but studies on Asian populations remain limited. This study investigated dietary supplement use among Korean breast cancer survivors, distinguishing between vitamin/ mineral (VM) and non-vitaminon-mineral (NVNM) supplements.
SUBJECTS/METHODS:
This cross-sectional study included 1,136 stage I–III breast cancer survivors from 12 Korean hospitals, who survived more than 6 mon post-surgery. The participants completed a questionnaire on post-diagnostic dietary supplement use. Stepwise logistic regression was applied, calculating odds ratios (ORs) and 95% confidence intervals (CIs) to identify the demographic and clinical factors associated with VM and NVNM use.
RESULTS:
Seventy percent of survivors reported supplement use, with 25% using a single product. The most common VM supplements were multivitamins/minerals, vitamin D, and vitamin C, while the most common NVNM supplements included omega-3 fatty acids, probiotics, and ginseng. Survivors with higher education and greater physical activity were more likely to use VM supplements (ORs [95% CIs], 2.74 [1.76–4.25] for college graduates or above vs. middle school or below; 1.38 [1.02–1.88] for the most active group vs. the least active group). NVNM use was associated with higher education, greater physical activity levels, and a history of smoking (ORs [95% CIs], 2.29 [1.46–3.58] for college graduates or above vs. middle school or below; 1.52 [1.13–2.06] for the most active group vs. the least active group; 2.00 [1.23–3.25] for ever smokers vs. never smokers). Survivors who had undergone chemotherapy were also more likely to use NVNM supplements than those who had not (OR [95% CI], 1.37 [1.02–1.84]).
CONCLUSION
Seventy percent of Korean breast cancer survivors used dietary supplements in this study. VM use was associated with higher education and physical activity, while higher NVNM use was associated with higher education, greater physical activity, a history of smoking, and chemotherapy.
8.Development of an artificial intelligence-based prediction platform for early recurrence of resectable pancreatic cancer after curative surgery–toward future use as an indication for neoadjuvant treatment: a retrospective multicenter cohort study
So Jeong YOON ; Sung Hyun KIM ; Hongbeom KIM ; Sang Hyun SHIN ; Jin Seok HEO ; Seung Soo HONG ; Chang Moo KANG ; Kyung Sik KIM ; Ho Kyoung HWANG ; In Woong HAN
Annals of Surgical Treatment and Research 2026;110(2):76-83
Purpose:
Neoadjuvant treatment (NAT) is now the standard for borderline resectable pancreatic cancer (RPC) and is being considered for RPC. Early recurrence after curative surgery in RPC is often seen as a treatment failure, prompting considerations for NAT. Our goal was to develop an artificial intelligence (AI)-based predictive model utilizing preoperatively available factors to forecast early recurrences of resected RPC.
Methods:
This study included 469 patients who underwent surgery for RPC between 2011 and 2019. Clinicopathologic and oncologic data were retrospectively reviewed. Preoperative variables, including laboratory data and imaging findings, were collected. Early recurrence was defined as recurrence occurring within a year after surgery. Deep neural networks were then used to select variables by assessing their importance. A new model predicting early recurrence of RPC was subsequently developed.
Results:
Of the patients evaluated, 199 (42.4%) experienced early recurrence. The predictive model included 14 preoperative variables: CA 19-9, preoperative pancreatitis, serum albumin, platelet count, lymphocyte count, the American Society of Anesthesiologists physical status classification, tumor size, monocyte count, age, body mass index, CRP, hemoglobin, WBC count, and CEA. The area under the curve for the model was 0.786 in the training set and 0.734 in the test set.
Conclusion
We developed an AI-based model to predict the early recurrence of RPC using preoperative parameters. By identifying patients at risk of early recurrence, optimal individualized treatments such as NAT can be considered. Future prospective studies are crucial to establish clear indications for NAT in RPC.
9.Recent advances in single-port robotic thyroidectomy:evolution, techniques, and clinical outcomes
Jin Kyong KIM ; Dong Wook KIM ; Jae Sang RYU ; Sungkeun KANG ; Eun Jin KIM ; Sang-Wook KANG ; Jong Ju JEONG ; Kee-Hyun NAM ; Woong Youn CHUNG
Annals of Surgical Treatment and Research 2026;110(1):3-11
Robotic thyroidectomy has progressed from multiport to single-port (SP) platforms to minimize invasiveness and improve cosmesis. The da Vinci SP system (Intuitive Surgical) combines a flexible 3-dimensional endoscope with 3 wristed instruments in a single 2.5-cm cannula-enabled concealed remote access route and mitigates external arm collisions.This review synthesized PubMed-indexed reports (2020–2025) on SP robotic thyroidectomy using the following approaches:transaxillary variants, SP areolar, retroauricular/facelift (SP-hairline variants), and transoral approach. We focused on technical refinement, learning curves, and clinical outcomes. We highlight technical refinements and clinical outcomes across access routes. Contemporary series indicate that SP thyroidectomy is feasible and safe in well-selected patients, with high cosmetic satisfaction and operative metrics comparable to those of multiport cohorts. Among the SP routes, transaxillary variants have the most mature peer-reviewed reporting and are therefore discussed in greater detail. Early applications of SP-assisted lateral neck dissection have also been described. The limitations of current SP platforms include constrained counter-traction, reduced internal workspace, and incomplete integration of advanced energy devices.Nonetheless, ongoing device innovations and the growing global experience suggest that SP systems will increasingly shape endocrine neck surgeries.
10.Prediction of Cancer Incidence and Mortality in Korea, 2026
Kyu-Won JUNG ; Mee Joo KANG ; Eun Hye PARK ; E Hwa YUN ; Hye-Jin KIM ; Jeong-Eun KIM ; Kui Sun CHOI ; Han-Kwang YANG
Cancer Research and Treatment 2026;58(2):368-375
Purpose:
This study aimed to project cancer incidence and mortality for 2026 to estimate Korea’s current cancer burden.
Materials and Methods:
Cancer incidence data from 1999 to 2023 were obtained from the Korea National Cancer Incidence Database, while cancer mortality data from 1993 to 2024 were acquired from the Ministry of Data and Statistics. Cancer incidence and mortality were projected by fitting a linear regression model to observed age-specific cancer rates against their respective years and then by the projected age-specific rates by the anticipated age-specific population for 2026. A joinpoint regression model was applied to identify significant changes in trends, using only the most recent trend data for predictions.
Results:
A total of 308,876 new cancer cases and 86,317 cancer deaths are expected in Korea in 2026. The most commonly diagnosed cancer is projected to be thyroid cancer, followed by the colorectal, lung, breast, prostate and stomach cancers. These six cancers are expected to account for 63.5% of all newly diagnosed cancers. Lung cancer is expected to be the leading cause of cancer-related deaths, followed by liver, colorectal, pancreatic, gallbladder, and stomach cancers, together comprising 65.9% of all cancer deaths.
Conclusion
Korea’s cancer burden continues to shift toward malignancies prevalent in older populations. The sustained increase in prostate cancer among men and the rising mortality impact of pancreatic cancer reflect structural changes in the national cancer profile amid rapid population aging.

Result Analysis
Print
Save
E-mail