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.Associations of Cardiocerebrovascular Risks and Exercise according to Menopausal Status in Women with Type 2 Diabetes Mellitus: A Nationwide Cohort Study
Ji-Hee KO ; Sun Joon MOON ; Kyung-Do HAN ; Hye-Mi KWON ; Se-Eun PARK ; Eun-Jung RHEE ; Won-Young LEE
Diabetes & Metabolism Journal 2026;50(1):101-114
Background:
Menopausal status can increase the risk of cardiocerebrovascular diseases (CCVDs) in women with type 2 diabetes mellitus (T2DM). Regular exercise is well-known to reduce this risk. This study explored the impact of exercise on CCVD and mortality in women with T2DM according to their menopausal status.
Methods:
A total of 32,477 premenopausal and 53,690 postmenopausal Korean women with T2DM aged 40 to 60 years from a national health examination cohort (2009 to 2018) were included. We evaluated risks for stroke, myocardial infarction (MI), and mortality based on exercise intensity. Cox proportional hazard regression analyses were performed to obtain the adjusted hazard ratio (aHR) and 95% confidence interval.
Results:
Exercise reduced stroke, MI, and mortality risks in women with T2DM, regardless of menopausal status. The highest effects of aHR compared to the sedentary group were 0.68 for stroke, 0.66 for MI, and 0.81 for mortality. Postmenopausal women experienced significant MI risk reductions at most exercise intensities, with the greatest reduction in the ≥1,500 metabolic equivalent of task score group unlike premenopausal women. However, stroke and mortality risk reductions in postmenopausal women were less pronounced compared to premenopausal women.
Conclusion
Exercise reduces CCVD risk in women with T2DM across menopausal status. Postmenopausal women with T2DM had more benefits from exercise on MI but fewer benefits on stroke and mortality than premenopausal women. In premenopausal women with T2DM, exercise was not associated with a lower MI risk.
3.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.
4.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.
5.Recording Vibrissal Compound Muscle Action Potentials Following Facial Nerve Trunk Stimulation in Rats Using a BIOPAC System
John Patrick CUENCA ; Min Young LEE ; Jae Yun JUNG ; Ji Eun CHOI
Journal of Audiology & Otology 2026;30(2):129-134
Compound muscle action potential (CMAP) recording provides an objective electrophysiological assessment of facial nerve function after injury. In rodent models, vibrissal CMAPs serve as quantitative surrogates of facial nerve integrity; however, practical descriptions of CMAP recording setups using widely available systems remain limited. In this study, we detail a practical and reproducible method for recording vibrissal CMAPs following direct stimulation of the facial nerve trunk in rats, using a BIOPAC-based system. CMAPs were recorded before and after unilateral facial nerve crush injury, followed by transection and epineural repair. Direct nerve trunk stimulation reliably elicited stable CMAP waveforms and supramaximal stimulation produced consistent responses suitable for longitudinal assessment. Baseline CMAP amplitudes were comparable to previously reported values. After facial nerve injury, CMAPs on the injured side were absent at 1 week, reappeared at 2 weeks, and increased further by 4 weeks. Because absolute CMAP amplitudes varied across recording sessions despite intact contralateral nerves, functional recovery was evaluated using left/right amplitude ratios. Single-peak CMAP amplitude was used to minimize waveform variability and stimulus-related artifacts. This method provides a straightforward and accessible approach for the electrophysiological assessment of facial nerve injury and recovery in experimental rodent models.
6.Early Diagnostic Changes in Autism Spectrum Disorder: A Retrospective Study
Jung Sook YEOM ; Young-Soo KIM ; Ji Sook PARK ; Eun Sil PARK ; Ji-Hyun SEO ; Jae-Young LIM ; Hyang-Ok WOO
Annals of Child Neurology 2026;34(2):136-143
Purpose:
Autism spectrum disorder (ASD) exhibits heterogeneous developmental trajectories; however, longitudinal studies using the Korean Childhood Autism Rating Scale (K-CARS) are scarce. This study examined diagnostic changes and related developmental characteristics through repeated K-CARS assessments.
Methods:
We retrospectively reviewed the medical records of children who underwent repeated K-CARS assessments between May 2021 and December 2024 at Gyeongsang National University Hospital. Based on diagnostic status at the initial (T1) and follow-up (T2) evaluations, participants were classified as having persistent ASD (ASD at T1 and T2), emerging ASD (non-ASD at T1 but ASD at T2), or desisting ASD (ASD at T1 but non-ASD at T2). Developmental profiles were evaluated using the social quotient (SQ), visual-motor integration (VMI), and language quotients.
Results:
Forty-three children (32 boys; median age, 2.9 years at T1 and 4.3 years at T2) were included. Twenty-two met ASD criteria at T1, and 15 (68%) retained the diagnosis at T2. Across the cohort, 15 (35%) had persistent ASD, 21 (49%) had emerging ASD, and seven (16%) had desisting ASD. The desisting group showed higher baseline VMI and better outcomes at follow-up. The emerging group initially had higher SQ and VMI than the persistent group, but these differences disappeared over time. Higher baseline VMI was associated with desisting status and higher baseline SQ with emerging ASD (odds ratios, 3.14 and 2.59 per standard deviation increase, respectively; P=0.06 and P=0.07).
Conclusion
Early ASD diagnoses were generally stable yet variable, supporting repeated assessment. Baseline VMI and SQ may relate to later diagnostic changes.
7.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.
8.Sarcopenia: From Global Consensus to Korean Implementation — A Narrative Review and Standpoint
Geon Young JANG ; Sunghwan JI ; Heewon JUNG ; Ji Yeon BAEK ; Il-Young JANG ; Kyoung Min KIM ; Miji KIM ; Clara Yongjoo PARK ; Kwang-Pyo LEE ; Dongryeol RYU ; Sang Yoon LEE ; Ok Hee JEON ; Sunyoung KIM ;
Annals of Geriatric Medicine and Research 2026;30(1):3-17
Sarcopenia is a major geriatric syndrome characterized by progressive loss of muscle mass and strength, resulting in disability and mortality. This narrative review synthesizes international consensus recommendations and Korean evidence to guide context-specific sarcopenia management strategies. PubMed, Embase, Cochrane Library, and KoreaMed (January 2000–November 2025) were searched, focusing on randomized trials, meta-analyses, systematic reviews, clinical practice guidelines, and large observational studies. Global diagnostic frameworks have evolved from muscle mass-based definitions toward multidimensional models that incorporate muscle strength and physical performance. Exercise and nutrition remain the mainstay treatments, with resistance-based training and adequate protein intake. Currently, pharmacologic options with proven clinical benefit are limited. In Korea, growing evidence supports the effectiveness of community-based sarcopenia interventions, underscoring the need for standardized, integrated delivery models that bridge the fragmented healthcare system and enable sustainable implementation.
10.Association between heavy metal exposure and high-sensitivity C-reactive protein in the elderly: Korea National Health and Nutrition Examination Survey (KNHANES) 2016–2017
Annals of Occupational and Environmental Medicine 2026;38(1):e13-
Background:
Cardiovascular diseases (CVDs) are a primary cause of mortality in the elderly. Exposure to heavy metals such as lead, cadmium, and mercury has been suggested to increase CVD risk by inducing reactive oxygen species and inflammatory responses. The elderly are particularly susceptible to heavy metal exposure, which may increase their CVD risk. Despite this potential risk, evidence specifically focusing on the association between blood heavy metal levels and high-sensitivity C-reactive protein (hsCRP), a key predictor of CVDs, in the elderly remains limited. Therefore, the present study aimed to assess the relationship between blood lead, mercury, and cadmium concentrations and hsCRP in the elderly.
Methods:
We analyzed 884 subjects (385 men, 499 women) aged 65 years and older without CVD history from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016–2017. Because KNHANES is a two-stage stratified clustered sample, all analyses applied stratum, cluster, and weight. Estimated geometric means (GMs) of hsCRP across demographic factors and heavy metal quartiles were compared using a complex samples general linear model (CSGLM). The association between blood heavy metals and hsCRP was examined using CSGLM, adjusting for age, sex, body mass index, estimated glomerular filtration rate, smoking status, alcohol consumption, education, physical activity, monthly income, and underlying diseases.
Results:
The estimated GM of hsCRP differed significantly by blood lead quartile (p = 0.035) and showed a significant increasing trend (p for trend = 0.019). In CSGLM analysis, elevated blood lead concentrations were significantly associated with increased hsCRP (β = 0.176, p = 0.032) after adjustment. However, blood mercury and cadmium concentrations showed no significant associations with hsCRP.
Conclusions
The observed association between blood lead concentrations and hsCRP suggests that elevated blood lead may contribute to increased CVD risk in the elderly. Given the susceptibility of this population, subsequent investigations are warranted to confirm this association and develop preventive strategies.

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