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.Sonographic Evaluation of Tendinous Mallet Finger to Estimate the Extent of Extension Lag
Jin Young KIM ; Jin Bog LEE ; Tae Hyun KIM
Clinics in Orthopedic Surgery 2026;18(1):133-140
Background:
Although several reports have addressed tendinous mallet finger (TMF), they have not identified which method best informs surgeons about the extent of residual extension lag in these patients. We aimed to assess the association between sonographic classification of acute TMF and the degree of extension lag remaining at the final follow-up.
Methods:
The inclusion criterion was acute TMF with symptom onset within 2 weeks. Thirty-eight patients (23 male and 15 female) participated, with a mean follow-up of 17.1 months (range, 12.3–23.5 months). Range of motion, including extension lag, was measured at both the initial presentation and the final follow-up. All patients were managed conservatively using a finger splint for a period exceeding 6 weeks. Ultrasonography was performed for all participants to assess the severity of terminal extensor tendon injury. Statistical analyses examined the relationship between sonographic type and extension lag at final follow-up.
Results:
At initial presentation, the mean extension lag was 46.0°, which improved to 17.5° at the last follow-up. TMF cases were categorized into 3 sonographic types (hypo-echoic, thinned, and wavy) based on ultrasound characteristics. A significant difference in extension lag at final follow-up was observed among the TMF groups (p = 0.005). Patients with the wavy type had the greatest mean extension lag, whereas those with the hypo-echoic type had the least mean extension lag, with statistical significance.
Conclusions
Sonographic assessment of TMF can aid in predicting residual extension lag in patients with TMF undergoing conservative treatment with a finger splint.
3.Risk Assessment for Carotid Atherosclerosis in Asymptomatic Patients with Metabolic Dysfunction-Associated Steatotic Liver Disease
Hana PARK ; Ji Young LEE ; Sungwon PARK ; Hyo Jeong LEE ; Suh Eun BAE ; Jaeil KIM ; Hye-Sook CHANG ; Jaewon CHOE ; Hye Won PARK ; Ju Hyun SHIM
Gut and Liver 2026;20(1):125-136
Background/Aims:
Cardiovascular disease remains a major cause of mortality in patients with metabolic dysfunction-associated steatotic liver disease (MASLD). This study evaluated the association between subclinical carotid atherosclerosis (SCA) and MASLD or MASLD and increased alcohol intake (MetALD) in asymptomatic individuals.
Methods:
This cross-sectional study included 56,889 adults undergoing health check-ups in South Korea. Hepatic steatosis was diagnosed by ultrasound, and SCA was defined by carotid plaques or increased intima-media thickness. Liver fibrosis was evaluated using the fibrosis-4 index and elastography.
Results:
SCA was identified in 13.5%. MASLD and MetALD were significantly associated with SCA in models adjusted for demographic and lifestyle factors (adjusted odds ratio [aOR], 1.26;95% confidence interval [CI], 1.19 to 1.33; aOR, 1.43; 95% CI, 1.30 to 1.58; respectively, p<0.001for both). However, these associations attenuated and lost statistical significance when metabolic risk factors were further adjusted. The risk of SCA increased with greater hepatic steatosis and liver fibrosis severity. In patients with MASLD, aORs were 1.70 (hepatic steatosis index >36),1.23 (fibrosis-4 index ≥1.3), and 1.78 (liver stiffness measurement ≥5.6 kPa), compared to indi-viduals without MASLD. Similar trends were observed in the MetALD group. Additionally, hyper-tension and clustering of ≥3 cardiometabolic risk factors were significantly associated with SCA inthe MASLD group, supporting the role of metabolic burden in SCA development.
Conclusions
MASLD and MetALD were associated with increased SCA risk, particularly in individuals with hepatic steatosis and fibrosis. These findings suggest that metabolic burden and liver disease severity jointly contribute to subclinical atherosclerosis risk.
4.Coffee and the Risk of Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis of Mendelian Randomization Studies
Hyun Bin CHOI ; Hyuk KIM ; Jeong-Ju YOO ; Sang Gyune KIM ; Young-Seok KIM
Gut and Liver 2026;20(1):153-157
This systematic review and meta-analysis examined the potential causal link between coffee consumption and hepatocellular carcinoma (HCC) risk via Mendelian randomization (MR) studies.Five eligible MR studies that involved the use of analytical approaches such as inverse variance weighted (IVW), MR-Egger, and weighted median methods were included. While previous observational studies suggested a protective role of coffee, the MR-based analyses in this study did not demonstrate a statistically significant association across all methods. IVW analysis yielded an odds ratio of 0.92 (95% confidence interval, 0.58 to 1.47), indicating no significant effect. Moderate to substantial heterogeneity was observed, but no publication bias was detected. These findings suggest that the previously reported inverse association may have been overestimated due to methodological limitations in observational research. Our results emphasize the importance of using genetically informed methods to infer causality, and the results indicate that coffee consumption may not causally reduce the risk of HCC.
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.Artificial intelligence-based personalized oncological outcome prediction model for upper urinary tract urothelial carcinoma after radical nephroureterectomy: A development and multicenter validation
Hyun Young LEE ; Hwanik KIM ; Bumjin LIM ; Dalsan YOU ; Cheryn SONG ; In Gab JEONG ; Jun Hyuk HONG ; Bumsik HONG ; Hanjong AHN ; Seung-hwan JEONG ; Ja Hyeon KU ; Jungyo SUH
Investigative and Clinical Urology 2026;67(1):15-23
Purpose:
To develop and validate an artificial intelligence (AI)-based personalized outcome prediction model for upper-urinary tract urothelial carcinoma patients undergoing radical nephroureterectomy.
Materials and Methods:
Data from patients who underwent radical nephroureterectomy between 2010 and 2020 across three hospitals were retrospectively analyzed. A model was developed using one tertiary center’s data and externally validated with data from two other hospitals. An AI model using XGBoost as risk estimator and bootstrapped Weibull Accelerated Failure Time model for 10-year survival probability was employed. Hyperparameter tuning used Optuna method. Model efficacy was assessed using concordance index, average Brier score, D-calibration, and six-month interval time-dependent area under the curve (AUC).
Results:
Of 1,039 patients, 627 qualified after excluding 50 with neoadjuvant chemotherapy. Model development used 564 patients (507 training, 57 test) with 9:1 stratified random split, plus 63 for internal validation and 362 for external validation. Significant parameters included preoperative glomerular filtration rate (p<0.001), hydroureteronephrosis (p=0.013), pathological N stage (p<0.001), concurrent carcinoma in situ (p<0.001), disease progression (p<0.001), and survival rate (p<0.001). Disease-free survival (DFS) model’s concordance index: internal validation 0.789, external validations 0.734 and 0.771. Overall survival (OS) model’s concordance index: internal validation 0.819, external validations 0.780 and 0.771. Mean time-dependent AUC was 0.66–0.77 for DFS and 0.67–0.80 for OS during 10-year periods.
Conclusions
AI-based model effectively predicts disease-free and OS outcomes for upper-urinary tract urothelial carcinoma patients with post-radical nephroureterectomy, showcasing robust performance across multicenter settings.
8.Intraoperative Visual Evoked Potential Monitoring in Endoscopic Endonasal Surgery for Nonpituitary Adenoma Suprasellar Tumors
Young Nam KWON ; Hwa Reung LEE ; Myung Jae LEE ; Young Ung KIM ; Seung Woo KIM ; Ha Young SHIN ; Sung-Min KIM ; Ju Hyung MOON ; Jong Hee CHANG ; Eui Hyun KIM
Journal of Clinical Neurology 2026;22(2):221-228
Background:
and Purpose Intraoperative visual evoked potential (VEP) monitoring has been studied mainly in pituitary adenoma, while its role in nonpituitary suprasellar tumors has remained unclear. This study evaluated the predictive usefulness of intraoperative VEP monitoring during endoscopic endonasal surgery (EES) and aimed to identify optimal alarm criteria for visual outcomes.
Methods:
We retrospectively analyzed a cohort of 87 patients who underwent EES with intraoperative VEP monitoring between April 2021 and September 2023. Visual outcomes were evaluated preoperatively and at short-term (≤3 months) and long-term (12 months) followups, with visual deterioration at these time points defined as worsening of either visual acuity or the visual field. Reductions in the VEP amplitude were quantified using both the maximum intraoperative decrease and the final amplitude after recovery. Receiver operating characteristic (ROC) curve analyses were performed to identify the optimal alarm thresholds, and the sensitivity, specificity, positive predictive value, and negative predictive value were calculated for short-term and long-term visual deteriorations.
Results:
Short-term and long-term visual deteriorations were detected in 12 (9.2%) and 5 (3.8%) of the 130 analyzed eyes, respectively. ROC curve analyses identified ≥40% and ≥30% reductions in the N75–P100 amplitude as optimal alarm criteria for short-term and long-term visual deteriorations, respectively. A 30% reduction without intraoperative recovery demonstrated markedly higher sensitivity than the conventional 50% alarm threshold for short-term (58.3% vs. 33.3%) and long-term (80.0% vs. 20.0%) outcomes, while maintaining acceptable specificity (82.2% and 80.8%, respectively).
Conclusions
A 30% reduction in amplitude represents a more-sensitive and clinically relevant alarm threshold than a 50% reduction for intraoperative VEP monitoring during EES for nonpituitary suprasellar tumors. Incorporating both the magnitude and recovery pattern of VEP amplitude changes may improve the accuracy of predictions of long-term visual deterioration. However, the potential for false positives warrants cautious interpretation, and further studies are needed to validate the impact of intraoperative VEP monitoring on visual outcomes.
9.Clinical Significance of Antinuclear Antibody Results in Patients with Uveitis
Do-Hyeon AN ; Hyun SUH ; Young-Hoon PARK ; Mirinae KIM
Journal of the Korean Ophthalmological Society 2026;67(4):110-117
Purpose:
This study investigated the results of antinuclear antibody (ANA) testing in Korean patients with uveitis, examining its relationship with the clinical course of uveitis and systemic diseases.
Methods:
We conducted a retrospective analysis of the medical records of 64 patients with noninfectious uveitis who underwent ANA testing and were followed for at least 6 months at the Department of Ophthalmology at Seoul St. Mary's Hospital from January 2006 to December 2021. Patients were divided into ANA-positive and ANA-negative groups and correlations between uveitis-related factors and ANA status were assessed.
Results:
Among the 516 patients tested for ANA, 6.58% (34/516) were positive. The initial visual acuity (logMAR) before treatment was significantly better in the ANA-positive group (0.21 ± 0.20) than in the ANA-negative group (0.59 ± 0.68) (p = 0.002). However, the final visual acuity after treatment showed no statistically significant difference between the two groups. Additionally, no statistically significant differences were observed in terms of immune deficiency status, types of associated rheumatic disease, rheumatoid factor positivity, erythrocyte sedimentation rate, C-reactive protein (define) levels, or treatment modalities. No significant correlation was found between ANA titers and the severity of uveitis.
Conclusions
Relationships between ANA positivity and the etiology, treatment outcomes, and systemic diseases associated with uveitis are unclear. Routine ANA testing is not recommended for the diagnosis of uveitis.
10.Eyeball Donation and Management System
Jaeyoung KIM ; Chul Young CHOI ; Jae Yong KIM ; Roo Min JUN ; Eun Chul KIM ; Yong-Soo BYUN ; Jong Hwa JUN ; Dong Hyun KIM ; Yunjin LEE ; Hyung Keun LEE ; Mee Kum KIM
Journal of the Korean Ophthalmological Society 2026;67(2):33-46
Purpose:
To propose improvements for promoting eyeball donation and managing donated corneas, this study analyzed the current system in Korea and reviewed relevant Korean laws, international standards, and foreign practices.
Methods:
To understand the current situation in Korea, annual reports published by the Korean Network for Organ Sharing and existing Korean laws were examined. For the international context, references were made to the National Organ Transplant Act, 21 CFR Part 1271 (Code of Federal Regulations Title 21 Part 1271), Current Good Tissue Practice guidelines of the Food and Drug Administration, and the Medical Standards of the Eye Bank Association of America in the United States. Opinions on promoting eyeball donation, improving the monitoring system for donated corneas and revising laws related to cornea management were gathered. The perspectives of 31 experts affiliated with the Korea Cornea Society were collected through a survey.
Results:
Currently, there are no laws or regulations that can be appropriately applied to the cornea which has properties of both organs and tissue. Additionally, there is no law regulating imported corneas. Therefore, there is a need to legislate or revise the current law; all experts who conducted the survey agreed on this. Furthermore, the current system faces limitations in the efficient procurement, stable supply, and management of donor corneas, as well as in donation promotion. To address these issues, the establishment of independent legislation for managing donated corneas and a National Central Eye Bank was proposed. This central body would oversee continuous personnel training, education, and monitoring, along with ensuring stable procurement, processing, and supply of corneas within a structured management system. Sixty-eight percent of the surveyed experts agreed with this proposal.
Conclusions
To establish a safe and efficient Korean corneal supply and demand system, it is imperative to enact cornea-specific laws, including the establishment of a National Central Eye Bank.

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