1.Structured Integration of an Artificial Intelligence-Based System for the Optical Diagnosis of Colorectal Polyps
Hae Yeon KANG ; Soonwhan KANG ; Goh Eun CHUNG ; Dong Hoon BAEK ; Hong Sub LEE ; Jinbae PARK ; Sun Young YANG ; Seon Hee LIM ; Ji Min CHOI ; Jung KIM ; Jung Ho BAE
Gut and Liver 2026;20(1):86-96
Background/Aims:
Recent advances in computer-aided diagnosis (CADx) systems have demonstrated expert-level accuracy in the optical diagnosis of colorectal polyps. High-confidence (HC) diagnoses have been defined as those made within 3 seconds without hesitation, and these systems have been shown to improve diagnostic accuracy. We aimed to evaluate the performance of endoscopists with varying levels of experience in diagnosing colorectal polyps with the assistance of a new CADx system applying the 3-second rule and without artificial intelligence assistance.
Methods:
In this multicenter ex vivo study, 35 endoscopists assessed 100 polyps (51 adenomas, 39 hyperplastic polyps, 10 sessile serrated lesions) using narrow-band imaging video clips on an online platform. Assessments consisted of individual endoscopist diagnosis and CADx-assisted diagnosis. HC assignments followed the 3-second rule in both phases. Performance metrics included HC accuracy, HC rate, and adherence to the Preservation and Incorporation of Valuable Endoscopic Innovations (PIVI) and Simple Optical Diagnosis Accuracy (SODA) thresholds.
Results:
HC diagnostic accuracy improved from 78.3% (95% confidence interval [CI], 76.6% to 80.0%) to 89.8% (95% CI, 88.6% to 90.9%) with CADx assistance (p<0.001). The proportion of HC predictions increased from 64.2% to 75.4% (p<0.001). Novice endoscopists showed marked improvement with CADx (74.1% vs 88.8%; p<0.001). CADx-assisted diagnoses nearly met SODA and PIVI thresholds under the 3-second rule. Additional analysis demonstrated that CADx assistance significantly improved interobserver agreement and ground truth, particularly for novices (κ=0.37 to κ=0.65; p<0.001).
Conclusions
Integrating CADx with the 3-second rule significantly enhances the performance of endoscopists in the optical diagnosis of colorectal polyps, with the greatest benefit observed among novice endoscopists.
2.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.
3.Molecular determinants of outcome to gemcitabine, cisplatin, and nab-paclitaxel in patients with advanced biliary tract cancer
Daeseong KIM ; Nam Suk SIM ; Seonjeong WOO ; Min Hwan KIM ; Choong-kun LEE ; Seung Soo HONG ; Sung Hyun KIM ; Ho Kyoung HWANG ; Chang Moo KANG ; Woo Jung LEE ; Jung Hyun JO ; Taek CHUNG ; Sohyun HWANG ; Beodeul KANG ; Jung Sun KIM ; Chang-Il KWON ; Sangwoo KIM ; Hong Jae CHON ; Chang Gon KIM ; Young Nyun PARK ; Hye Jin CHOI
Clinical and Molecular Hepatology 2026;32(2):721-736
Background/Aims:
Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC.
Methods:
Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy.
Results:
With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC.
Conclusions
Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.
4.Korean Thyroid Association Guidelines on the Management of Differentiated Thyroid Cancers; Part II. Follow-up Surveillance after Initial Treatment 2026
Eun Kyung LEE ; Seung Heon KANG ; Bon Seok KOO ; Mijin KIM ; Min Joo KIM ; Bo Hyun KIM ; Ji Won KIM ; Dong Gyu NA ; Sohyun PARK ; Ji-In BANG ; Kyorim BACK ; Youngduk SEO ; Young-Ik SON ; Young Shin SONG ; Dong Yeob SHIN ; Jong-Hyuk AHN ; Hwa Young AHN ; So Won OH ; Ho-Ryun WON ; Won Sang YOO ; Min Kyoung LEE ; Sang-Woo LEE ; Jeongmin LEE ; Ji Ye LEE ; Dong-Jun LIM ; Ki-Wook CHUNG ; Ari CHONG ; Jin Hyang JUNG ; Sun Wook CHO ; Yoon Young CHO ; Chae Moon HONG ; Young Joo PARK ;
International Journal of Thyroidology 2026;19(1):1-40
In patients with differentiated thyroid cancer (DTC), initial recurrence risk stratification based on clinical, histopathological, and perioperative data remains the key determinant for guiding management strategies during the first 1-2 years post-treatment. However, the adoption of ongoing risk stratification (ORS), which dynamically reassesses risk by integrating longitudinal clinical data and treatment response, enables more precise long-term prognostic assessment and facilitates highly individualized management. Building upon recent guidelines, the 2026 KTA guideline has been further refined by incorporating robust evidence from large-scale national cohorts and comprehensive systematic reviews. These updated recommendations outline contemporary concepts of ORS, risk-adapted TSH suppression targets, optimized surveillance modalities for recurrence detection, and disease-specific long-term follow-up strategies. Reflecting the paradigm shift toward de-escalated treatment, this revision integrates evolved perspectives on TSH suppression intensity, the clinical interpretation of thyroglobulin levels, and tailored follow-up intervals. These evidence-based recommendations aim to minimize unnecessary treatment and excessive surveillance in the large proportion of patients with excellent prognosis after initial therapy, while ensuring that each patient receives appropriately tailored and effective long-term management.
5.Long-term outcomes of radiotherapy for inoperable benign soft tissue tumors in the skull base or head
Joo-Hyun CHUNG ; Hak Jae KIM ; Hyun-Cheol KANG ; Il Han KIM ; Joo Ho LEE
Radiation Oncology Journal 2025;43(1):49-54
This study aimed to evaluate the long-term efficacy and complication of radiotherapy for benign soft tissue tumors. Five cases of benign soft tissue tumors (two plexiform neurofibromas, two juvenile nasopharyngeal angiofibromas, and one cavernous sinus hemangioma) who underwent radiotherapy were enrolled. All patients had at least 10 years of follow-up. The median follow-up duration was 12 years (range, 10 to 27). Three patients underwent incomplete excision prior to radiotherapy. Radiation doses were either 54 Gy in 30 fractions or 50.4 Gy in 28 fractions (1.8 Gy per fraction). Every patient achieved complete remission (CR) or near-CR. The tumor volume decreased significantly within the first 2 years of follow-up and continued to decrease slowly up to 10 years; no distinct further decrease in tumor volume was observed after 10 years. One patient developed left mandibular hypoplasia 8 years after radiotherapy. Significant volume decrease was achievable within a few years after radiotherapy in benign soft tissue tumors. Therefore, radiotherapy is a viable option for unresectable or incompletely resected benign soft tissue tumors with a minimum risk of complication.
6.Palliative Care and Hospice for Heart Failure Patients: Position Statement From the Korean Society of Heart Failure
Seung-Mok LEE ; Hae-Young LEE ; Shin Hye YOO ; Hyun-Jai CHO ; Jong-Chan YOUN ; Seong-Mi PARK ; Jin-Ok JEONG ; Min-Seok KIM ; Chi Young SHIM ; Jin Joo PARK ; Kye Hun KIM ; Eung Ju KIM ; Jeong Hoon YANG ; Jae Yeong CHO ; Sang-Ho JO ; Kyung-Kuk HWANG ; Ju-Hee LEE ; In-Cheol KIM ; Gi Beom KIM ; Jung Hyun CHOI ; Sung-Hee SHIN ; Wook-Jin CHUNG ; Seok-Min KANG ; Myeong Chan CHO ; Dae-Gyun PARK ; Byung-Su YOO
International Journal of Heart Failure 2025;7(1):32-46
Heart failure (HF) is a major cause of mortality and morbidity in South Korea, imposing substantial physical, emotional, and financial burdens on patients and society. Despite the high burden of symptom and complex care needs of HF patients, palliative care and hospice services remain underutilized in South Korea due to cultural, institutional, and knowledge-related barriers. This position statement from the Korean Society of Heart Failure emphasizes the need for integrating palliative and hospice care into HF management to improve quality of life and support holistic care for patients and their families. By clarifying the role of palliative care in HF and proposing practical referral criteria, this position statement aims to bridge the gap between HF and palliative care services in South Korea, ultimately improving patient-centered outcomes and aligning treatment with the goals and values of HF patients.
7.Influence of Adipose-Derived Stem Cell-Enhanced Acellular Dermal Matrix on Capsule Formation in Rat Models
Hyun Su KANG ; Myeong Jae KANG ; Hyun Ki HONG ; Jeong Yeop RYU ; Joon Seok LEE ; Kang Young CHOI ; Ho Yun CHUNG ; Ho Yong PARK ; Jung Dug YANG
Journal of Wound Management and Research 2025;21(1):1-9
Background:
The use of acellular dermal matrix (ADM) in breast reconstruction can inhibit capsular contracture, increasing the success rate of surgery. Adipose-derived stem cells (ADSCs) can effectively suppress foreign body reaction, which is a major cause of capsular contracture. This study aimed to elucidate the synergistic effects of combining ADSCs with ADM on capsule formation, utilizing a rat model.
Methods:
The study utilized 12 rats, equally divided into two experimental groups. Group A received silicone implants covered with ADM, while Group B was implanted with silicone prostheses wrapped in ADM, pre-seeded with ADSCs. Capsule formation was assessed through visual examination, histological analysis, and reverse transcription-polymerase chain reaction (RT-PCR) at 4 and 8 weeks post-implantation.
Results:
At 4 weeks, the mean capsular thickness was 177.16 μm in Group A and 170.76 μm in Group B; at 8 weeks, it was 196.69 μm in Group A and 176.10 μm in Group B. Statistical analysis showed no significant difference in capsule thickness between the groups (P>0.05). Histological findings indicated that Group A had more inflammatory cells and collagen fibers and reduced angiogenesis. RT-PCR showed that angiogenesis-promoting gene expression in Group B was 14% higher at 4 weeks and 156% higher at 8 weeks compared to Group A.
Conclusion
Although no statistically significant reduction in capsule thickness was observed, ADSC-seeded implants showed histological features associated with reduced inflammation and enhanced angiogenesis, suggesting potential benefits in capsule formation management.
8.Diagnosis of Pneumocystis jirovecii Pneumonia in Non-HIV Immunocompromised Patient in Korea: A Review and Algorithm Proposed by Expert Consensus Group
Raeseok LEE ; Kyungmin HUH ; Chang Kyung KANG ; Yong Chan KIM ; Jung Ho KIM ; Hyungjin KIM ; Jeong Su PARK ; Ji Young PARK ; Heungsup SUNG ; Jongtak JUNG ; Chung-Jong KIM ; Kyoung-Ho SONG
Infection and Chemotherapy 2025;57(1):45-62
Pneumocystis jirovecii pneumonia (PJP) is a life-threatening infection commonly observed in immunocompromised patients, necessitating prompt diagnosis and treatment. This review evaluates the diagnostic performance of various tests used for PJP diagnosis through a comprehensive literature review. Additionally, we propose a diagnostic algorithm tailored to non-human immunodeficiency virus immunocompromised patients, considering the specific characteristics of current medical resources in Korea.
9.Probiotic-Derived P8 Protein: Promoting Proliferation and Migration in Stem Cells and Keratinocytes
Soo Bin JANG ; Yoojung KIM ; Han Cheol YEO ; Geun-Ho KANG ; Byung Chull AN ; Yongku RYU ; Myung-Jun CHUNG ; Ssang-Goo CHO
International Journal of Stem Cells 2025;18(1):87-98
Probiotics exert various effects on the body and provide different health benefits. Previous reports have demonstrated that the P8 protein (P8), isolated from Lactobacillus rhamnosus, has anticancer properties. However, its efficacy in stem cells and normal cells has not been reported. In this study, the effect of P8 on cell proliferation and wound healing was evaluated, investigating its underlying mechanism. Based on scratch assay results, we demonstrated that P8 treatment significantly increases wound healing by activating the cell cycle and promoting stem cell stemness.Cellular mechanisms were further investigated by culturing stem cells in a medium containing Lactobacillus-derived P8 protein, revealing its promotion of cell proliferation and migration. Also, it is found that P8 enhances the expression of stemness markers, such as OCT4 and SOX2, along with activation of the mitogen-activated protein kinase (MAPK) signaling and Hippo pathways. These results indicate that P8 can promote cell growth by increasing stem cell proliferation, migration, and stemness in a manner associated with MAPK and Hippo signaling, which could contribute to the increased wound healing after P8 treatment. Furthermore, P8 could promote wound healing in keratinocytes by activating the MAPK signaling pathways. These results suggest that P8 might be a promising candidate to enhance stem cell culture efficiency by activating cell proliferation, and enhance therapeutic effects in skin diseases.
10.Evaluating Rituximab Failure Rates in Neuromyelitis Optica Spectrum Disorder: A Nationwide Real-World Study From South Korea
Su-Hyun KIM ; Ju-Hong MIN ; Sung-Min KIM ; Eun-Jae LEE ; Young-Min LIM ; Ha Young SHIN ; Young Nam KWON ; Eunhee SOHN ; Sooyoung KIM ; Min Su PARK ; Tai-Seung NAM ; Byeol-A YOON ; Jong Kuk KIM ; Kyong Jin SHIN ; Yoo Hwan KIM ; Jin Myoung SEOK ; Jeong Bin BONG ; Sohyeon KIM ; Hung Youl SEOK ; Sun-Young OH ; Ohyun KWON ; Sunyoung KIM ; Sukyoon LEE ; Nam-Hee KIM ; Eun Bin CHO ; Sa-Yoon KANG ; Seong-il OH ; Jong Seok BAE ; Suk-Won AHN ; Ki Hoon KIM ; You-Ri KANG ; Woohee JU ; Seung Ho CHOO ; Yeon Hak CHUNG ; Jae-Won HYUN ; Ho Jin KIM
Journal of Clinical Neurology 2025;21(2):131-136
Background:
and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation.
Methods:
We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months.
Results:
The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections.
Conclusions
This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

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