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.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.
3.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.
4.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.
7.Final adult height in male patients with central precocious puberty after gonadotropin-releasing hormone agonist treatment
Kyoung Won CHO ; Youn Kyoung KIM ; Ji Eun YOO ; Joon Young KIM ; Seo Jung KIM ; Sujin KIM ; Youngha CHOI ; Kyungchul SONG ; Eun Byeol LEE ; Hyun Wook CHAE ; Junghwan SUH
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):30-37
Purpose:
We aimed to compare the final adult height (FAH) of male patients with central precocious puberty (CPP) after treatment with a gonadotropin-releasing hormone agonist (GnRHa). Specifically, we compared FAH with the target height (TH) and the predicted adult height (PAH) before and after GnRHa treatment to quantify height gain and identify predictive factors.
Methods:
We retrospectively reviewed the medical records of 92 male patients with CPP and known FAH after GnRHa treatment at the Department of Pediatrics of Severance Children’s Hospital between January 2000 and June 2024.
Results:
The mean duration of GnRHa treatment was 2.7±1.3 years. A significant 1.1±0.9 years narrowing was observed in the difference between bone age (BA) and chronological age (CA) during treatment (P<0.001). TH was 172.4±3.4 cm. FAH was 173.6±6.4 cm. FAH was greater than TH by 1.2±5.9 cm (P=0.047). PAH before and after treatment was 179.9±8.1 and 181.2±7.4 cm, respectively. PAH was increased by 1.3±4.9 cm (P=0.012) after treatment. As the PAH standard deviation score (SDS) before GnRHa treatment increased, FAH tended to exceed TH. In contrast, higher testosterone levels before treatment are associated with FAH falling below TH. A longer duration of treatment and taller TH are associated with an FAH SDS greater than height SDS before treatment. Conversely, a greater weight SDS, BA–CA difference, and testis size before treatment are associated with FAH SDS being less than height SDS before GnRHa treatment.
Conclusion
GnRHa treatment improved FAH and inhibited bone maturation in male patients with CPP.
8.Experiences of End-of-Life Care Among Medical Staff in Acute Care Hospitals: A Qualitative Study
Chung-woo LEE ; Youn Seon CHOI ; Dae-kyun KIM ; So-Hi KWON ; Won-chul KIM ; Na-young KIM-YOON ; Hye Yoon PARK ; Jaesok KIM ; Ji-Kyoung KIM
Journal of Hospice and Palliative Care 2026;29(1):1-9
Purpose:
This study explored the experiences of physicians and nurses providing end-oflife care in Korean acute care hospitals. It aimed to identify the challenges faced in caring for dying patients and to suggest strategies for improving hospital-based end-of-life care.
Methods:
A qualitative exploratory design was employed using focus group interviews.Eleven healthcare professionals (five physicians and six nurses) working in tertiary or general hospitals participated in the study between July and August 2018. The interviews were conducted using a semi-structured guide covering seven thematic areas. All sessions were audio-recorded, transcribed verbatim, and analyzed thematically following Braun and Clarke’s framework.
Results:
Six major themes emerged: (1) communication with patients and families, (2) physical care for dying patients, (3) psychological and spiritual support, (4) hospital environment and system constraints, (5) moral distress and emotional burden on healthcare providers, and (6) suggestions for improvement. The participants described difficulties in open communication, limited resources for comfort care, emotional strain from invasive treatment at the end of life, and the absence of standardized institutional protocols.They emphasized the need for structured communication training, multidisciplinary collaboration, and integration of palliative care principles into acute care practice.
Conclusion
Physicians and nurses play a pivotal yet emotionally demanding role in providing end-oflife care in acute hospitals. Institutional reforms, including education, protocol development, and supportive environments, are essential to ensuring dignified, patient-centered care and sustain healthcare providers in their professional roles.
9.Lateral Closing Wedge Supramalleolar Osteotomy with Inframalleolar Correction as a Joint-Preserving Procedure for Valgus Ankle Osteoarthritis: A Case Report
Ju Hwan PARK ; Jin Soo SUH ; Ji-Ye KIM ; Jun Young CHOI
Journal of Korean Foot and Ankle Society 2026;30(2):73-79
A medial closing wedge supramalleolar osteotomy, along with corrections for pes plano-valgus, including medial displacement calcaneal osteotomy, and deltoid ligament repair or reconstruction, is most commonly considered for the joint-preserving surgery of valgus ankle arthritis. In cases of ‘opposing coronal plane deformities,’ however, where the tibial plafond is varus-aligned to the long axis of the tibia and the ground, while the talus is conversely valgus-aligned, medial closing wedge supramalleolar osteotomy may paradoxically risk exacerbating the valgus ankle arthritis. This paper reports the radiological and clinical outcomes of an otherwise healthy, physically active 55-year-old male patient with valgus ankle arthritis and opposing coronal-plane deformities, along with a literature review. The patient underwent joint-preserving surgery consisting of lateral closing wedge supramalleolar osteotomy, fibular osteotomy, medial displacement calcaneal osteotomy, and deltoid ligament augmentation with suture tape. This paper discusses the critical considerations and surgical precautions necessary when deciding on joint-preserving procedures for valgus ankle arthritis.
10.Supramalleolar Osteotomy as a Joint-Preserving Procedure for Varus Ankle Osteoarthritis in Elderly Patients: A Report of Two Cases
Ji Yong YUN ; Jin Soo SUH ; Jun Young CHOI
Journal of Korean Foot and Ankle Society 2026;30(1):31-37
Medial opening wedge supramalleolar osteotomy (SMO) is a representative joint-preserving surgical procedure for varus ankle osteoarthritis, based on the principle of load redistribution, with favorable radiologic and clinical outcomes. This procedure is indicated for patients with Takakura stage 2 or 3A arthritis, whereas severe vascular or neurological impairment and osteomyelitis are considered absolute contraindications. Although SMO is generally limited to patients younger than 70 years because of the risk of delayed or nonunion in elderly individuals, few reports on the outcomes in elderly patients have been published. This paper reports two cases of varus ankle osteoarthritis in patients over 75 years of age who underwent SMO after failed conservative treatment, with a follow-up exceeding 2 years, along with a review of the relevant literature. Both cases achieved successful bone union without delayed healing. At the final follow-up, the foot and ankle ability measure (FAAM)–activities of daily living and FAAM-sport scores showed marked improvement compared with the preoperative values. In conclusion, SMO may be a viable joint-preserving treatment option, even in elderly patients, provided that their general health is favorable.

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