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.Association of Sleep Patterns with the Development of Idiopathic Scoliosis:A Nationwide Pediatric Cohort Study
Weonmin CHO ; Soo-Bin LEE ; Sahyun SUNG ; Ji-Won KWON ; Seong-Hwan MOON ; Kyung-Soo SUK ; Hak-Sun KIM ; Si-Young PARK ; Byung Ho LEE
Clinics in Orthopedic Surgery 2026;18(1):78-86
Background:
The etiology of adolescent idiopathic scoliosis is multifactorial, and the influence of lifestyle factors such as sleep is not clearly understood. Differences in scoliosis incidence between urban and rural areas have been reported, but the contributing factors remain unclear. Therefore, this study investigated the association between sleep patterns and the incidence of idiopathic scoliosis and explored whether these patterns contribute to the observed urban-rural disparity.
Methods:
This retrospective study utilized data from the Korea Children and Youth Panel Survey (2010–2016) and the Health Insurance Review and Assessment Service for 4,693 students (age, 7–18 years). Various lifestyle factors including sleep patterns, learning time, and activity times, were compared between urban and rural areas, and a correlation analysis was performed between these factors and the age-specific incidence of idiopathic scoliosis.
Results:
Urban students, who exhibited higher idiopathic scoliosis incidence rates, tended to have later bedtimes and shorter total sleep durations than rural students. Longer learning hours were also observed in urban areas. Significant correlations were found between idiopathic scoliosis incidence and bedtime (p = 0.031), total sleep time (p = 0.026), and changes in total sleep time (p = 0.011).
Conclusions
Our findings indicate that later bedtimes and shorter sleep durations may contribute to idiopathic scoliosis development in children and adolescents. The higher idiopathic scoliosis incidence in urban students than in rural students could be partially explained by these sleep pattern differences, highlighting the need for further research into the role of sleep in scoliosis onset and prevention.
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.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.
5.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.
6.Successful desensitization to contrast media in a patient with recurrent hypersensitivity to multiple iodinated contrast agents: A case report
Jeong Min PARK ; Sun Young PAIK ; Jiung JEONG ; Young-Chan KIM ; Heung-Woo PARK ; Sang-Heon CHO ; Hye-Ryun KANG ; Ji-Hyang LEE
Allergy, Asthma & Respiratory Disease 2026;14(2):97-100
Hypersensitivity reactions (HSRs) to iodinated contrast media (ICM) can range from mild cutaneous symptoms to life-threatening anaphylaxis. In patients with a history of ICM hypersensitivity, avoidance of the culprit agent is generally recommended. This case report describes a successful desensitization in a 56-year-old man with recurrent HSRs to multiple agents including ioversol, iohexol, iobitridol, and iopamidol. Intradermal testing was performed to identify potentially safe alternatives; however, all tested agents, including iohexol, ioversol, iobitridol, iopamidol, iodixanol, iomeprol, and iopromide, yielded positive results. Given the clinical necessity of transcatheter arterial chemoembolization, a 13-step rapid desensitization protocol with iodixanol was implemented. The procedure was completed without any breakthrough reactions. This case highlights desensitization as a feasible and effective strategy for patients with hypersensitivity to multiple ICM agents.
7.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.
8.Diagnostic and prognostic significance of myositis-specific autoantibodies in idiopathic inflammatory myopathies
Ji-Yon KIM ; Hsueh-Wen HSUEH ; Eun-Jae LEE ; Hyunjin KIM ; Young-Min LIM
Annals of Clinical Neurophysiology 2026;28(1):33-49
Idiopathic inflammatory myopathies (IIMs) are heterogeneous immune-mediated muscle disorders with variable extramuscular manifestations and outcomes. Myositis-specific auto-antibodies (MSAs) have transformed the IIM field by enabling a serology-informed taxonomy based on distinct clinical phenotypes, prognostic trajectories, and therapeutic responses. Anti-Jo-1 and other antisynthetase antibodies characterize interstitial lung disease (ILD)-prone forms of disease; anti-MDA5 identifies patients at risk of rapidly progressive ILD and early mortality; anti-TIF1-γ and anti-NXP2 are indicative of cancer-associated myositis; anti-SRP and anti-HMGCR delineate necrotizing myopathies; and anti-cN1A supports the diagnosis of inclusion-body myositis. Beyond diagnosis, MSA profiles provide prognostic information, including about survival, relapse risk, and organ-specific complications, and they are increasingly being used to guide treatment decisions and predict biologic responsiveness. This review summarizes the diagnostic, prognostic, and therapeutic implications of MSAs across the IIM spectrum and highlight their growing importance in clinical practice for risk stratification and patient management.
9.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.
10.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.

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