1.Transformation of Pleomorphic Xanthoastrocytoma with Germline ATM Mutation into a SMARCB1-Deficient Rhabdoid Tumor: A Case Report
Hyeonseung LEE ; Hyun Jin PARK ; Bo Kyung KIM ; Kyung Taek HONG ; Hyoung Jin KANG ; Sung-Hye PARK ; Ji Hoon PHI ; June-Young KOH ; Jung Yoon CHOI
Clinical Pediatric Hematology-Oncology 2026;33(1):34-38
Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.
2.Tibiotalocalcaneal Arthrodesis Using a Retrograde Intramedullary Nail without Subtalar Joint Preparation after Failed Total Ankle Arthroplasty
Yeo Kwon YOON ; Kwang Hwan PARK ; Dong Woo SHIM ; Seung Hwan HAN ; Jin Woo LEE
Clinics in Orthopedic Surgery 2026;18(1):151-158
Background:
Tibiotalocalcaneal (TTC) arthrodesis is a viable salvage option for failed total ankle arthroplasty (TAA), but it is typically a complex procedure associated with a high complication rate. This study analyzed outcomes of salvage TTC arthrodesis using a retrograde intramedullary (IM) nail without subtalar joint preparation after failed TAA.
Methods:
This study included 18 patients (18 ankles) who underwent TTC arthrodesis without subtalar joint preparation for failed TAA from July 2008 to March 2023 and were followed up for at least 2 years. Visual analog scale pain scores and Ankle Osteoarthritis Scale pain and disability scores were used to assess functional outcomes. Radiographic union, time to union, complications, and clinical success—defined as pain improvement without the need for revision surgery or amputation—were also evaluated.
Results:
The mean follow-up duration after TTC arthrodesis was 79.8 months (range, 26–199 months). Tibiotalar joint union was achieved in 13 ankles (72.2%) at a mean of 7.5 months after TTC arthrodesis. Subtalar joint union was achieved in 7 ankles (38.9%). All functional scores improved significantly from preoperatively to the last follow-up. The overall clinical success rate was 83.3% (15 ankles).
Conclusions
TTC arthrodesis using a retrograde IM nail without subtalar joint preparation produced favorable outcomes in patients with failed TAA. No complications associated with the subtalar joint were observed in any patient during follow-up. Therefore, TTC arthrodesis using a retrograde IM nail without subtalar joint preparation may be a considerable salvage option for failed TAA.
3.Clinical Efficacy of Real-Time Artificial Intelligence-Assisted Colonoscopy in Colorectal Polyp Detection: A Prospective Multicenter Randomized Controlled Trial
Han Jo JEON ; Bora KEUM ; Eui Sun JEONG ; Seong-Eun KIM ; Chang Mo MOON ; Bomee LEE ; Sanghyun KIM ; Hyuk Soon CHOI ; Jae Min LEE ; Eun Sun KIM ; Yoon Tae JEEN
Gut and Liver 2026;20(1):97-106
Background/Aims:
Early detection and removal of colon polyps are critical for preventing colorectal cancer. Computer-aided detection (CADe) systems have been introduced to increase the polyp detection rate (PDR) during colonoscopy, potentially enhancing its effectiveness. This study aimed to evaluate the efficacy of a CADe system in colorectal neoplasm detection.
Methods:
This prospective, randomized controlled trial was conducted at two tertiary centers (May 2023 to April 2025). Patients were randomly assigned to CADe or conventional colonoscopy and underwent screening, surveillance, or diagnostic colonoscopy. The primary endpoint was the adenoma detection rate (ADR), while the secondary endpoints were the PDR, relative risk (RR) of polyp detection, adenomas per colonoscopy (APC), and factors influencing adenoma detection.
Results:
Of 1,004 enrolled patients, 998 were randomly allocated into CADe and conventional colonoscopy groups (497 CADe system and 501 conventional colonoscopy). The CADe group had greater polyp counts (2.2 per colonoscopy vs 1.4 per colonoscopy; p<0.001) and APC values (1.2 vs 0.8; p<0.001). The CADe group showed significantly higher PDRs (72.2% vs 54.5%;p<0.001; RR, 2.173; 95% confidence interval [CI], 1.669 to 2.828) and ADRs (52.3% vs 36.1%;p<0.001; RR, 1.940; 95% CI, 1.505 to 2.499). CADe also significantly increased the detection rate of hyperplastic polyps (p=0.007; RR, 1.474; 95% CI, 1.113 to 1.952) and increased the detection rates across all sizes and locations. In multivariable analysis, CADe use was the strongest independent predictor of adenoma detection (odds ratio, 1.914; 95% CI, 1.467 to 2.496), outweighing male sex, older age, diagnostic indication, and withdrawal time.
Conclusions
Real-time CADe-assisted colonoscopy significantly increased PDR and ADR and proved to be a strong independent predictor of adenoma detection (cris.nih.go.kr, KCT0009664).
4.A Nationwide Trend Analysis of Helicobacter pylori Treatment between 2010 and 2021 According to Revised Guidelines in Korea
Seung In SEO ; Su Youn NAM ; Junwoo JO ; Chang Seok BANG ; Moon Won LEE ; Yoon Jin CHOI ; Woon Geon SHIN
Gut and Liver 2026;20(1):59-68
Background/Aims:
Despite numerous global changes in Helicobacter pylori treatment guidelines over the past decade, no comprehensive nationwide trend analysis has been conducted.We aimed to investigate the annual trends in the use of H. pylori treatment regimens on the basis of hospital type and region to identify whether changes in prescription patterns aligned with the Korean guidelines updated in 2013 and 2020.
Methods:
Using data from Korean Health Insurance Review and Assessment database spanning from January 2010 to December 2022, we extracted the performance code for H. pylori diagnosis along with the drug combination code for H. pylori treatment.
Results:
We analyzed the annual trends in standard triple therapy (STT; n=664,748), bismuth quadruple therapy (BQT; n=151,828), concomitant therapy (CT; n=3,034), sequential therapy (SEQ; n=1,612), and salvage treatment. Overall, STT use declined, with the use of 7-day STT decreasing but the use of 10- and 14-day STT increasing. The use of BQT as a first-line treatment consistently increased, and non-BQT (i.e., CT and SEQ) use also increased sharply since 2019.The tendency to adhere to the guideline changes was more pronounced in primary care clinics.Salvage treatment with BQT after STT failure exhibited a declining trend from 2010 to 2017, followed by an increase since 2018. Salvage treatment with levofloxacin triple therapy after BQT failure increased over time.
Conclusions
This long-term nationwide trend analysis revealed that real-world prescriptions for H. pylori treatment generally corresponded to the updated guidelines. Efforts are needed to disseminate the revised guidelines to achieve higher compliance rates.
5.AI-driven Medical Care: Evaluation of Large Language Models in Generating Personalized Stroke Education Materials
Surim YOON ; Woo-Keun SEO ; Kyungseo KIM ; Seongvin JU ; Hyun Kyung KIM ; Hyung Jun KIM ; Jong-Won CHUNG ; Oh Young BANG ; Gyeong-Moon KIM ; Eun Young LEE ; Youngrak CHOI ; Soyoung YOO
Healthcare Informatics Research 2026;32(2):179-189
Objectives:
Large language models (LLMs) demonstrate remarkable potential in healthcare communication. However, whether they can process complex, high-volume medical information, such as stroke-related content, remains insufficiently validated. This study aimed to evaluate the natural language processing capabilities of LLMs in handling such content and to develop an evaluation instrument.
Methods:
A survey compared educational materials generated by two LLMs (ChatGPT 4.0 and Claude 3) with neurologist-authored content on stroke. The materials were based on two clinical scenarios representing distinct stroke etiologies: cardioembolism and large-artery atherosclerosis. They were evaluated in terms of accuracy, legality, ethics, comprehensiveness, and information delivery. Scores for comprehensiveness and information delivery were compared according to participants’ agreement with the use of LLMs in healthcare.
Results:
ChatGPT received the highest scores across all domains, except for legality in Scenario 2. In Scenario 1, the ranking for accuracy and summarization of clinical information was, from highest to lowest, ChatGPT, Claude, and the neurologist (η2 = 0.140, p < 0.001; η2 = 0.175, p < 0.001). The same hierarchy was observed in Scenario 2 for accuracy (η2 = 0.077, p < 0.001) and summarization (η2 = 0.194, p < 0.001). Participants who agreed with the use of LLMs in healthcare assigned higher scores for the comprehensiveness (Scenario 1, p = 0.005; Scenario 2, p = 0.007) and information delivery (Scenario 1, p = 0.003; Scenario 2, p = 0.026) of ChatGPT-generated materials than participants who did not agree.
Conclusions
LLMs demonstrated adequate capability to convey complex content, such as stroke-related information, in an accessible and understandable manner for non-experts.
6.Optimal use and cycling strategies of Janus kinase inhibitors in ulcerative colitis: current evidence and clinical implications from the KASID Guidelines Task Force Team
Seung Min HONG ; Dong Hyun KIM ; June Hwa BAE ; Seung Yong SHIN ; Eun Mi SONG ; Ji Eun KIM ; Young Joo YANG ; Jiyoung YOON ; Sang-Bum KANG ; Eun Soo KIM ; Seong-Eun KIM ; Seong-Jung KIM ; Jun LEE ; Soo-Young NA ; Soo Jung PARK ; Sang Hyoung PARK ; Miyoung CHOI ; Myung Ha KIM ; Won MOON ; Sung-Ae JUNG ;
Intestinal Research 2026;24(1):27-37
Janus kinase (JAK) inhibitors are an important treatment option for ulcerative colitis, providing rapid onset of action, oral administration, and efficacy even after biologic failure. The 3 approved agents—tofacitinib, filgotinib, and upadacitinib—differ in JAK isoform selectivity, leading to clinically meaningful differences in efficacy and safety. Evidence from network meta-analyses, clinical trials, and real-world studies consistently shows that upadacitinib provides the highest efficacy for induction and maintenance of remission, whereas filgotinib demonstrates the most favorable safety profile. The strong efficacy of upadacitinib and tofacitinib is particularly relevant in patients with severe disease, including acute severe ulcerative colitis, and upadacitinib maintains high efficacy regardless of prior advanced therapy exposure. JAK inhibitors also benefit extraintestinal manifestations. Although risks such as herpes zoster, serious infection, thromboembolism, and major cardiovascular events differ among agents, long-term data suggest generally acceptable safety when used appropriately. Intraclass JAK-to-JAK cycling is feasible, with about half of patients achieving steroid-free clinical remission in retrospective cohorts. Based on mechanistic, clinical, and real-world evidence, filgotinib may be a first-line option for patients with lower disease activity or when safety is a priority, whereas upadacitinib or tofacitinib may be preferred in higher disease activity. Strategically selecting agents may improve durability and outcomes.
7.‘Jayulsingyeongsiljo’ Is Not a Recognized Medical Term: 2025 Survey of the Korean Society of Pain and Autonomic Disorders
Kyomin CHOI ; Jeeyoung OH ; Jin-Woo PARK ; Byeol-A YOON ; Eun Bin CHO ; Tae-Kyeong LEE
Journal of the Korean Neurological Association 2026;44(1):37-46
Background:
To investigate Korean neurologists' perceptions of the non-standard term ‘jayulsingyeongsiljo’ and their actual evaluation and management of such patients.
Methods:
We performed an anonymous web-based cross-sectional survey of board-certified Korean neurologists by Korean Society of Pain and Autonomic Disorders between August 13 and September 10, 2025. A questionnaire sent by e-mail asked about demographics, experience with patients labeled with ‘jayulsingyeongsiljo,’ use and perceived usefulness of autonomic function tests, the impact of coronavirus disease 2019, and opinions on terminology and the role of neurologists.
Results:
In total, 109 neurologists responded. Most reported that patients presenting for ‘jayulsingyeongsiljo’ were young or middle-aged adults and that their numbers had increased over the preceding 2 years. Referrals frequently originated from Korean medicine clinics and other non-neurology departments, often after stand-alone heart rate variability testing. Fatigue, orthostatic intolerance, palpitations, sweating abnormalities, gastrointestinal symptoms, and anxiety or insomnia were common, and autonomic testing was generally regarded as helpful. Eighty percent felt that the risks associated with ‘jayulsingyeongsiljo’ are overstated, and 95% preferred replacing the term with standardized expressions such as autonomic dysfunction.
Conclusions
Korean neurologists view ‘jayulsingyeongsiljo’ as an unrecognized and potentially misleading label and support society-led standardization of terminology and guidance to improve autonomic dysfunction care and resource use.
8.Short-Term Outcomes of Novel Refractive Extended Depth-of-Focus Lens: Stage 1 Epiretinal Membrane vs. Normal Retina
Jiwon CHOI ; Sang Min LEE ; Jae Won CHOI ; Min Ji PARK ; Joo Heon ROH ; Tae Heon LEE ; Sun A KIM ; Su Hey CHAE ; Hee Seong YOON ; Jung Yup KIM
Journal of the Korean Ophthalmological Society 2026;67(2):47-54
Purpose:
We compared short-term clinical outcomes after cataract surgery with implantation of a novel refractive extended depth-of-focus TECNIS PureSee intraocular lens (IOL) between patients with stage 1 epiretinal membrane (ERM)—characterized by a thin membrane over the macula with preserved foveal depression―and those with a normal retina.
Methods:
This retrospective study included 60 eyes of 60 patients who underwent cataract surgery with implantation of the TECNIS PureSee IOL between January 2024 and January 2025: 30 eyes with stage 1 ERM and 30 eyes with a normal retina. Preoperative characteristics, including age, sex distribution, cataract severity, corrected distance visual acuity (CDVA), and higher-order aberrations, were compared between groups, as were IOL power and target refraction. Postoperative outcomes at 1 month―including CDVA, uncorrected distance, intermediate, and near visual acuity, ocular aberrations, and contrast sensitivity―were evaluated.
Results:
There were no significant differences in preoperative characteristics, such as age, sex distribution, cataract grade, CDVA, higher-order aberrations, IOL power, or target refraction between the two groups. At 1 month postoperatively, CDVA, uncorrected distance, intermediate, and near visual acuity, higher-order aberrations, and contrast sensitivity exhibited no significant differences between groups.
Conclusions
In this short-term analysis, the PureSee IOL demonstrated comparable efficacy and safety in cataract patients with stage 1 ERM to those with a normal retina.
9.Asia-Pacific consensus statement on medication-related osteonecrosis of the jaw in patients with osteoporosis
Akira TAGUCHI ; Daisuke INOUE ; Jin-Woo KIM ; Keskanya KESKANYA ; Wai Sin CHAN ; Hee Dong CHAE ; Chung-Hwan CHEN ; Ching-Lung CHEUNG ; Eddie Siu Lun CHOW ; Yoon-Sok CHUNG ; Linsey GANI ; Muhammad Kamil BIN HASSAN ; Unnop JAISAMRARN ; Chakorn VORAKULPIPAT ; Nutchada SRIYARANYA ; Aasis UNNANUNTANA ; Tanawat AMPHANSAP ; Seng Bin ANG ; Fen Lee HEW ; Julie LI-YU ; Terence Ong Ing WEI ; Jeyakantha JEYAKANTHA ; Mark Anthony SANDOVAL ; Thawee SONGPATANASILP ; Monica Therese CATING-CABRAL ; Thanut VALLEENUKUL ; Lalita WATTANACHANYA ; Chih-Hsing CHIH-HSING ; Weibo XIA ; Jawl-Shan HWANG ; Hiroshi HAGINO ; Natthinee CHARATCHAROENWITTHAYA
Osteoporosis and Sarcopenia 2026;12(1):1-17
A unified consensus statement on medication-related osteonecrosis of the jaw (MRONJ) has not yet been established among the Asian member countries or regions of the Asian Federation of Osteoporosis Societies (AFOS). This study aimed to develop a consensus on MRONJ in patients with osteoporosis across these countries and regions. In this study, the term “Asia-Pacific” refers specifically to the Asian member countries and regions of AFOS. A structured survey consisting of nine MRONJ-related questions was distributed across 10 countries and regions to assess the level of agreement and summarize regional perspectives. In addition, a manual literature review and voting were conducted to evaluate the current evidence on MRONJ. The key aspects of MRONJ, including definition, staging, diagnosis, pathogenesis, risk factors, management, and prevention, were generally consistent among the AFOS countries and regions. The annual incidence and incidence rate of MRONJ associated with low-dose antiresorptive therapy in patients with osteoporosis ranged from 0.025% to 0.136% and 21 to 283 cases per 100,000 person-years, respectively. However, evidence regarding the benefits of drug discontinuation before dental surgery, such as tooth extraction, remains insufficient. Large-scale, multinational studies across AFOS countries and regions are warranted to determine the incidence of MRONJ better and evaluate the impact of antiresorptive drug discontinuation before dental procedures. These findings may contribute to the devel opment of effective evidence-based strategies for preventing MRONJ in patients with osteoporosis.
10.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2026;34(1):108-108

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