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.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.
4.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.
5.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.
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.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.
8.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.
9.A Pilot Study on the Use of Topical Gold and Diamond Suspension Combined With 1,064 nm Picosecond Nd:YAG Laser for the Treatment of Facial Melasma
Ji Yeon HONG ; Hye Sung HAN ; Kui Young PARK
Annals of Dermatology 2026;38(1):27-32
Background:
Carbon suspension with laser irradiation was used for facial melasma, but it produces harmful fumes. Gold and diamond are biocompatible and chemically inert, and expected to act as potent chromophores and microdermabrasion agents, respectively.
Objective:
This study aimed to evaluate the efficacy and safety of microgold and microdiamond suspensions with a 1,064 nm picosecond neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for melasma.
Methods:
Ten Korean patients received 2 laser sessions using gold and diamond suspension at 2-week intervals. Melasma area severity index (MASI), melanin index (MI), erythema index (EI), Physician/Subject global aesthetic improvement scale (PGAIS/SGAIS), and adverse events were assessed at baseline, week 2 and week 4.
Results:
MASI and MI scores significantly improved. EI score showed no significant changes.All patients showed aesthetic improvement by PGAIS and SGAIS. No severe or unexpected adverse events were reported.
Conclusion
The topical microgold and microdiamond suspension combined with a 1,064 nm picosecond Nd:YAG laser appears to be a safe and effective treatment option for facial melasma.
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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