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.Exercise, Exerkines, and Sarcopenia
Hye Soo CHUNG ; Kyung Mook CHOI
Diabetes & Metabolism Journal 2026;50(1):19-29
Sarcopenia is a progressive age-related musculoskeletal disorder characterized by loss of skeletal muscle mass, strength, and physical function. Closely associated with aging and physical inactivity, it significantly compromises mobility, independence, and quality of life in older adults. Exercise is widely recognized as an effective non-pharmacological intervention for managing sarcopenia. However, the underlying molecular mechanisms remain incompletely elucidated. Among the emerging mediators, exerkines, physical exercise-induced signaling molecules, are secreted by multiple tissues, including the skeletal muscle, bone, liver, and adipose tissue, and mediate the systemic beneficial impacts of exercise via autocrine, paracrine, and endocrine signaling. These factors play critical roles in interorgan communication, regulation of muscle regeneration, mitochondrial function, inflammation, and metabolic homeostasis. Importantly, the secretion profiles and biological functions of exerkines are modulated by exercise-specific parameters such as mode, intensity, and duration. Understanding the regulatory dynamics of exerkine signaling may offer novel therapeutic avenues, particularly for individuals unable to engage in regular physical activity. This review focuses on the recently identified exerkines relevant to skeletal muscle physiology and their implications in the pathophysiology of sarcopenia. We also provided a comprehensive overview of exerkine responses to various exercise modalities in the prevention and treatment of sarcopenia.
3.Targeting SLC25A33 Suppresses Vascular Smooth Muscle Cell Proliferation and Migration by Reducing Cytosolic mtDNA Levels: Implications for Occlusive Vascular Diseases
Daehoon KIM ; Jieun SHIN ; Yeon-Kyung CHOI ; You Mie LEE ; Keun-Gyu PARK ; Hyang Sook KIM ; Jun-Kyu BYUN
Diabetes & Metabolism Journal 2026;50(1):139-152
Background:
Vascular smooth muscle cells (VSMCs) play a crucial role in the development of occlusive vascular diseases through abnormal proliferation and migration. This pathological behavior is closely associated with mitochondrial reactive oxygen species (ROS)-mediated mitochondrial DNA (mtDNA) damage. The mitochondrial carrier protein solute carrier family 25 member 33 (SLC25A33), essential for nucleoside transport, is integral to mtDNA production. This study aimed to investigate the effects of SLC25A33 inhibition on the proliferation and migration of VSMCs, as well as its impact on neointima formation.
Methods:
VSMCs were isolated from the thoracic aorta of 4-week-old Sprague-Dawley rats. The effects of small interfering RNAinduced silencing of SLC25A33 mRNA on platelet-derived growth factor (PDGF)-induced proliferation and migration of VSMCs were analyzed. The in vivo effects of targeting the SLC25A33 gene on neointima formation were evaluated using a murine carotid artery ligation model by perivascularly applying Lenti-shSLC25A33 with Pluronic F-127 gel.
Results:
First, we observed an upregulation of the SLC25A33 protein in the carotid artery ligation-induced neointima in mice. Silencing of SLC25A33 suppressed the PDGF-stimulated proliferation and migration of VSMCs and cell cycle progression. Knockdown of SLC25A33 inhibited PDGF-induced production of mtDNA and ROS, consequently inactivating the cyclic GMP-AMP synthesis (cGAS)-stimulator of interferon genes (STING)-TANK-binding kinase 1 (TBK1)-nuclear factor kappa B (NF-κB) pathway. Furthermore, the downregulation of SLC25A33 reduced carotid artery ligation-induced neointima in mice.
Conclusion
This study suggests that targeting SLC25A33 in VSMCs could be a novel therapeutic strategy to prevent occlusive vascular diseases.
4.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.
5.Macro-Aspartate Aminotransferase Elevation in a Patient with Chronic Hepatitis B
Nae-Yun HEO ; Jae-Hoon KIM ; Seungha PARK ; Joon Hyuk CHOI ; Tae Oh KIM ; Jin LEE ; Yong Eun PARK ; Kyung Ran JUN
The Korean Journal of Gastroenterology 2026;86(2):122-127
Although aspartate aminotransferase (AST) is a serum marker of hepatocellular damage in chronic hepatitis, it is difficult to interpret very high AST levels with concurrent low alanine aminotransferase (ALT) levels. Macro-AST is an immunoglobulin-AST complex that can present as aberrant high enzymatic activity without significant inflammation in the liver. Two patients with chronic hepatitis B presented with disproportionate AST elevations. Their plasma samples were precipitated with polyethylene glycol (PEG) and stored at 4°C for macro-AST determinations. In Case 1, PEG precipitation showed 100% removal of AST activity, and refrigerated storage resulted in a ~70% decline over seven days, confirming macro-AST. In Case 2, both tests showed minimal changes, suggesting that macro-AST was unlikely. The AST levels normalized after antiviral therapy, suggesting immune-active hepatitis as the probable cause, but the other contributing factors could not be completely excluded. The abrupt decrease in AST activity after PEG precipitation and during refrigeration storage suggests that relatively high AST values compared to ALT might be attributed to the presence of macro-AST.These non-invasive methods for detecting macroenzymes might help the patient avoid unnecessary further work-ups.
6.Consensus of Korean Asthma Study Group on Definition of Clinical Remission in Severe Asthma: A Modified Delphi Study
Sun Hye SHIN ; Joon Young CHOI ; Junghee YOON ; Youlim KIM ; Jong Geol JANG ; Ji-Yong MOON ; Chin Kook RHEE ; Kyung Hoon MIN ; Yong Il HWANG ; Yeon-Mok OH ; Seong Yong LIM ;
Tuberculosis and Respiratory Diseases 2026;89(2):215-225
Background:
Asthma remission has recently emerged as an aspirational treatment goal, yet its definition remains inconsistent across studies and expert groups. The absence of a standardized framework hampers its application in clinical practice and research, particularly in Korea where biologics use is rapidly increasing. This study aimed to establish a consensus definition of clinical remission in severe asthma among Korean experts.
Methods:
A two-round modified Delphi survey, followed by a focused third round, was conducted among 28 board-certified pulmonologists from the Korean Academy of Tuberculosis and Respiratory Diseases (KATRD). The questionnaire consisted of six domains and 27 items. Responses were analyzed using agreement rates, interquartile ranges, and content validity ratios to determine consensus levels.
Results:
Consensus was reached on defining clinical remission as a composite of no exacerbations, no systemic corticosteroid use, sustained symptom control (Asthma Control Test ≥20 on at least three occasions over 12 months), and stabilization and optimization of pulmonary function while on maintenance treatment. Experts agreed that pulmonary function should be assessed based on clinical judgment rather than absolute thresholds. Complete remission was additionally defined as fulfilling all clinical remission criteria with normalization of type 2 inflammation (blood eosinophils <300/μL and fractional exhaled nitric oxide <25 ppb).
Conclusion
This Delphi consensus provides a regionally relevant and pragmatic framework for defining remission in severe asthma. These statements may help guide clinical practice, inform guideline development, and support future research on remission as a treatment goal.
7.Serial KL-6 Changes in PD-1/PD-L1 Inhibitor-Related Pneumonitis in Non-small Cell Lung Cancer: A Single-Center Prospective Pilot Study
Jae Kyeom SIM ; Juwhan CHOI ; Sung Won CHANG ; Sang Hyuk KIM ; Jee Youn OH ; Kyung Hoon MIN ; Gyu Young HUR ; Hwan Seok YONG ; Jae Jeong SHIM ; Sung Yong LEE
Tuberculosis and Respiratory Diseases 2026;89(2):257-265
Background:
Programmed cell death 1/programmed cell death ligand 1 (PD-1/PD-L1) inhibitors are effective treatments for non-small cell lung cancer (NSCLC), but their use can lead to severe pneumonitis. This study aims to evaluate the utility of Krebs von den Lungen-6 (KL-6) for predicting and diagnosing PD-1/PD-L1 inhibitor-related pneumonitis in NSCLC patients.
Methods:
We conducted a prospective observational study at a university-affiliated tertiary hospital in Korea from February 2022 to June 2023. Baseline KL-6 levels were measured immediately before initiating PD-1/PD-L1 inhibitor therapy. In patients who developed pneumonitis, KL-6 levels were monitored every 1–2 weeks from the onset of pneumonitis. For patients without pneumonitis, KL-6 levels were measured every 6 weeks. We compared clinical characteristics and serial KL-6 levels between the pneumonitis and non-pneumonitis groups.
Results:
Eighteen patients were enrolled, with 11 developing pneumonitis. Baseline KL-6 levels did not significantly differ between the two groups (261 U/mL in the pneumonitis group vs. 373 U/mL in the non-pneumonitis group, p=0.375). In the pneumonitis group, KL-6 levels generally showed an upward trend, with a median of 412 U/mL at pneumonitis onset. Conversely, KL-6 levels in the non-pneumonitis group showed no clear overall change.
Conclusion
In this pilot study, baseline KL-6 was not clearly linked to PD-1/PD-L1 inhibitor-related pneumonitis in NSCLC patients. However, increases in KL-6 levels post-baseline were more frequently observed in patients who developed pneumonitis, including cases of all-cause pneumonitis.
8.Korean Medication Algorithm Project for Depressive Disorder 2025:Comparisons with Other Treatment Guidelines
Won-Seok CHOI ; Young Sup WOO ; Won-Myong BAHK ; Nak-Young KIM ; Jeong Seok SEO ; Sheng-Min WANG ; Won KIM ; Sung-Yong PARK ; Jung Goo LEE ; Chan-Mo YANG ; Hyung Mo SUNG ; Young-Eun JUNG ; Moon-Doo KIM ; Jong-Hyun JEONG ; Bo-Hyun YOON ; Kyung Joon MIN
Clinical Psychopharmacology and Neuroscience 2026;24(1):2-14
The sixth edition of the Korean Medication Algorithm Project for Depressive Disorder (KMAP-DD) was published in 2025. This review compared KMAP-DD 2025 with four major international clinical practice guidelines: Canadian Network for Mood and Anxiety Treatments Clinical Guidelines for the Management of Major Depressive Disorders, National Institute for Health and Care Excellence Depression Guideline, Royal Australian and New Zealand College of Psychiatrists Clinical Practice Guidelines for Mood Disorders, and British Association for Psychopharmacology Guideline. While KMAP-DD is based on expert consensus, and others on evidence-based methods, overall treatment strategies for depressive episodes were fairly consistent. Especially, KMAP-DD 2025 offers more structured recommendations in areas lacking strong evidence, such as premenstrual dysphoric disorder, perinatal depression, and depression with medical comorbidities. KMAP-DD 2025 also reflected Korean clinical practice patterns emphasizing rapid symptom relief and early use of combination strategies. Despite limitations as a consensus-based guideline, KMAP-DD 2025 complements evidence-based approaches and provides practical, situation-specific guidance for real-world clinical decision-making in Korea.
9.Optimizing pediatric liver transplantation allocation: a simulation study on new splittable deceased donor criteria in Korea
Yuyoung OH ; Nam-Joon YI ; Kyung Chul YOON ; Su young HONG ; Suk Kyun HONG ; Kwang-Woong LEE ; YoungRok CHOI
Clinical Transplantation and Research 2026;40(1):68-75
Background:
We analyzed the status of organ distribution in pediatric deceased donor liver transplantation (DDLT) in Korea. Additionally, we estimated how many pediatric patients could have avoided living donor liver transplantation (LDLT) or survived if new criteria for splittable deceased donors were adopted. Based on the findings, we advocate expanding policy to promote the universal adoption of split liver transplantation (SLT).
Methods:
Using the Korean Network for Organ Sharing database, we identified patients who underwent DDLT between January 2000 and December 2020. We considered “po-tential splittable donors” those with a donor-to-recipient weight ratio of ≥1.0 who met the existing SLT criteria (age 10–40 years; weight ≥50 kg). By comparing the numbersof pediatric LDLT recipients and potential splittable donors annually, we estimated how many patients might have avoided LDLT if the left lateral section of each splittable liver had been allocated to a child. Additionally, we compared the number of deaths on the DDLT waiting list with the number of potential splittable donors to estimate possibly preventable deaths.
Results:
Overall, we identified 640 potential splittable donors. Over the 20-year period, 1,210 pediatric patients (<19 years old) received LDLT. If potentially splittable livers had been split, this number could have been nearly halved. Furthermore, 127 patients died while on the DDLT waiting list. Using SLT with potential splittable donors, these deaths might have been prevented.
Conclusions
SLT could reduce avoidable deaths among pediatric patients while decreasing the economic and social burden of LDLT, without compromising survival for adult DDLT recipients.
10.Systemic Gaps in Heart Failure Care and the Need for Specialized Management: A Nationwide Survey of Korean Cardiologists
SungA BAE ; Soo-Yong LEE ; So-Ree KIM ; Minjae YOON ; Kang Un CHOI ; Junho HYUN ; Kyung-Hee KIM ; Suk Min SEO ; Byung-Su YOO ; Seong-Mi PARK ;
International Journal of Heart Failure 2026;8(1):95-100

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