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.A Protocol of Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ)
Geon Ha KIM ; Jung-Min PYUN ; Danbee KANG ; Sung Hoon KANG ; Seong-Ho KOH ; Jae Seung KIM ; So Young MOON ; Won-Jin MOON ; Young Ho PARK ; YongSoo SHIM ; Dong Won YANG ; Young Chul YOUN ; Young Hee JUNG ; Hanna CHO ; Hojin CHOI ; Jae-Sung LIM ; Kee Hyung PARK ; Seong Hye CHOI
Dementia and Neurocognitive Disorders 2026;25(1):25-41
Background:
and Purpose: To assess the long-term effectiveness, safety, and economic viability of recently approved Alzheimer’s disease (AD) therapies, as well as to evaluate the real-world application of novel diagnostics among AD patients with diverse comorbidities, comprehensive real-world data (RWD) analysis is essential. The Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ) endeavors to create a registry of RWD derived from clinical practice on new diagnostic methods and therapeutic agents for AD introduced in Korea since 2021.
Methods:
Participants must fulfill all the following: 1) be at least 19 years old; 2) be actively receiving, scheduled to initiate, or undergoing evaluation for any AD disease-modifying treatment; 3) have completed amyloid positron emission tomography or cerebrospinal fluid AD immunoassay (a positive result is not essential for participation); 4) have a clinical classification of cognitively unimpaired, mild cognitive impairment, or probable AD dementia. Data generated during routine care is segmented into a minimum dataset, extended dataset, and research-only dataset requiring extra consent. Assessments encompass clinical, cognitive, functional, neurobehavioral, neuroimaging, and biomarker evaluations, in addition to systematic monitoring of new AD treatments and their safety.Data are collected and monitored at baseline, at semiannual intervals during the initial 2 years, and then annually up to 2034. To date, 46 medical centers will participate in JOY-ALZ.
Conclusions
JOY-ALZ is expected to promote understanding of the long-term clinical outcomes, safety, and cost-effectiveness of recently introduced diagnostics and treatments for AD, thereby supporting the progress of precision medicine in AD care and diagnosis.
3.Feasibility and Preliminary Efficacy of Digital Cognitive Training in Parkinson’s Disease With Mild Cognitive Impairment: A Pilot Study
Dongje LEE ; Hang-Rai KIM ; Yu Jeong PARK ; Yisuh AHN ; Daeho LEE ; Jungyeun LEE ; Su Jin CHUNG ; Seung Yeon KIM ; Yeji HWANG ; Ji Young YUN ; Jin Whan CHO ; Kyum-Yil KWON ; Seong-Beom KOH ; Sung Hoon KANG
Journal of Movement Disorders 2026;19(1):76-80
Objective:
Cognitive impairment is common in patients with Parkinson’s disease (PD), and few pharmacological options are available for treating this condition. We evaluated the effects of a digital cognitive training program (SUPERBRAIN), which was previously shown to be effective in populations at risk of Alzheimer’s disease, on cognitive function in individuals with PD.
Methods:
Twenty-three individuals with PD and mild cognitive impairment (PD-MCI) from four clinics were randomized to the intervention (n=16) or control (n=7) groups. The intervention group completed a 12-week, home-based, tablet-based cognitive training program (25–30 min/day, 7 days/week). Cognitive outcomes were assessed using the Seoul Neuropsychological Screening Battery pre- and post-intervention.
Results:
The adherence rate was 79.36%. The intervention group showed significant improvements in the Seoul Verbal Learning Test (SVLT) delayed recall and the Controlled Oral Word Association Test, while no changes were observed in the control group. Analysis of covariance confirmed greater SVLT improvement in the intervention group (F statistic=7.15, p=0.015, partial η2=0.28).
Conclusion
SUPERBRAIN is feasible and can improve cognitive function in individuals with PD-MCI.
4.Clinical and Urodynamic Predictors of Urinary Urgency Improvement After Cystocele Repair
Ju Hun AHN ; Joon Chul KIM ; Jin Bong CHOI ; Jun Sung KOH ; Young Kyu HAN ; Seong Joo YANG ; Kang Jun CHO
International Neurourology Journal 2026;30(2):163-171
Purpose:
Overactive bladder (OAB) symptoms may improve following surgical correction of cystocele. This study aimed to evaluate changes in urgency, the primary symptom of OAB, and identify factors associated with improvement in urgency after surgical treatment for cystocele.
Methods:
We conducted a retrospective analysis of medical records for patients who underwent surgical treatment for cystocele and had preoperative urgency measuring ≥3 on a 5-point urinary sensation scale. Patients were categorized into 2 groups based on their urgency status 3 months postsurgery: those with improved urgency and those without improvement. Improvement was defined as a reduction of 2 or more points on the scale following surgery. We compared preoperative clinical and urodynamic factors between the 2 groups.
Results:
A total of 137 patients were included in the study, with 98 (71.5%) showing improvement in urgency symptoms after surgery. The improved group had a significantly higher prevalence of preoperative urgency urinary incontinence (UUI) (62.2% vs. 30.8%, P=0.001) and bladder outlet obstruction (43.9% vs. 20.5%, P=0.011) compared to the nonimproved group. Urodynamic evaluations indicated that the detrusor pressure at maximum flow rate (PdetQmax) was significantly higher in the improved group than in the nonimproved group (P=0.004). Multivariate logistic regression analysis identified preoperative UUI, higher PdetQmax, and lower vaginal parity as independent predictors of improvement in urgency postoperatively.
Conclusions
Preoperative UUI, higher PdetQmax, and lower vaginal parity were significant predictors of postoperative improvement in urgency. Both clinical and urodynamic factors may help identify patients with cystocele and preoperative urgency who are most likely to benefit from anatomical correction.
5.Occupational stress (KOSS®19): scale development and validation in the Korean context
Hansoo SONG ; Hyoung Ryoul KIM ; Inah KIM ; Jin-Ha YOON ; Sang-Baek KOH ; Sung-Soo OH ; Hee-Tae KANG ; Da-Yee JEUNG ; Dae-Sung HYUN ; Chunhui SUH ; Sei-Jin CHANG
Annals of Occupational and Environmental Medicine 2025;37(1):e12-
Background:
The Korean Occupational Stress Scale (KOSS) was developed in 2004. During this time, industrial structures have evolved, and societal awareness of occupational stress has changed. This study aims to develop and validate a revised version of the Korean Occupational Stress Scale (KOSS®19), tailored for workers, reflecting these changes.
Methods:
The KOSS®19 was developed based on the 26-item KOSS–short form (SF) through a review by eight experts. A survey was conducted including 359 service industry workers, comprising the KOSS®19, Burnout, and Depression scales. The KOSS®19 subscales were restructured, and their reliability and validity were evaluated.
Results:
The KOSS®19 composed of eight subscales: hazardous physical environment (2 items), high job demand (3 items), insufficient job control (2 items), low social support (2 items), job insecurity (2 items), organizational injustice (4 items), lack of reward (2 items), and work-life imbalance (2 items). The reliability and validity of the KOSS®19 were found to be satisfactory.
Conclusions
The KOSS®19 is a suitable tool for assessing occupational stress, effectively replacing the original KOSS and KOSS-SF.
6.Emotional labor (KELS®11): scale development and validation in the Korean context
Da-Yee JEUNG ; Hyoung Ryoul KIM ; Hansoo SONG ; Inah KIM ; Jin-Ha YOON ; Sang-Baek KOH ; Sung-Soo OH ; Hee-Tae KANG ; Dae-Sung HYUN ; Chunhui SUH ; Sei Jin CHANG
Annals of Occupational and Environmental Medicine 2025;37(1):e13-
Background:
Emotional labor refers to the management of emotions and expressions to meet the emotional requirements of a job role. This study aimed to develop a revised version of the Korean Emotional Labor Scale (KELS®11), based on the first edition (KELS-24) introduced in 2014, and to provide practical applications and guidelines for its use in the Korean workplace through a validation process.
Methods:
The revised version of KELS®11 was derived from the 24-item KELS, following a review process involving eight experts. To validate the scale’s reliability and validity, a self-administered survey was conducted among 359 service industry workers using KELS®11, burnout, and depression scales. KELS®11 was reclassified, and its reliability and validity were evaluated. Receiver operating characteristic curve analysis was conducted to establish sex-specific cutoff values (normal vs. high-risk groups).
Results:
KELS®11 was designed to account for individual, organizational, and cultural contexts. It consists of four subscales and 11 items: “emotional regulation” (2 items), “emotional dissonance” (3 items), “organizational monitoring” (2 items), and “organizational protective system for emotional labor” (4 items). KELS®11 demonstrated good validity (content validity ratio: 0.84; item convergence/discriminant validity success rates: 100%; correlation with burnout: r = 0.185–0.436, p < 0.01; correlation with depression: r = 0.128–0.339, p < 0.05) and reliability (Cronbach’s alpha: 0.597–0.795). Additionally, sex-specific reference values were established to determine risk groups based on the intensity of emotional labor exposure.
Conclusions
KELS®11 is a validated and reliable measurement tool designed to assess the intensity and magnitude of emotional labor in the workplace. The revised tool reflects critical considerations in the development of emotional labor measurement scales.
7.Workplace Violence (KWVS®13): scale development and validation in the Korean context
Da-Yee JEUNG ; Hyoung Ryoul KIM ; Hansoo SONG ; Inah KIM ; Jin-Ha YOON ; Sang-Baek KOH ; Sung-Soo OH ; Hee-Tae KANG ; Dae-Sung HYUN ; Chunhui SUH ; Sei-Jin CHANG
Annals of Occupational and Environmental Medicine 2025;37(1):e14-
Background:
Workplace violence refers to any act or threat of physical violence, verbal abuse, harassment, intimidation, bullying, mobbing, or other aggressive and disruptive behaviors that occur at work. This study aims to develop and validate a revision of the Korean Workplace Violence Scale (KWVS®13), based on the first edition of the Korean Workplace Violence Scale (KWVS-24), and to provide practical applications and guidelines for the Korean workplace environment.
Methods:
The revised KWVS®13 was developed by restructuring the 24-item KWVS through a review process involving eight experts. To validate the reliability and validity of KWVS®13, a self-administered survey comprising KWVS®13, burnout, and depression scales was conducted among 359 service industry workers. KWVS®13 was reclassified, and its reliability and validity were assessed. Receiver operating characteristic curve analysis was performed to establish sex-specific cutoff values (normal vs. risk) of the scale.
Results:
KWVS®13 consists of 13 items across four subscales: “psychological and sexual violence from customers” (4 items), “psychological and sexual violence from supervisors or coworkers” (4 items), “physical assault from customers, supervisors, or coworkers” (2 items), and “organizational protective system for workplace violence” (3 items). We found that KWVS®13 shows relatively good validity (content validity ratio for content validity: 0.888; success rate of item convergent and discriminant validity: 100%, and significant correlation coefficient with burnout (r = 0.115–0.83, p < 0.05) and depression (r = 0.098–0.348, p < 0.05) with the exception of Organizational Violence Protection System for Workplace Violence) and reliability (Cronbach’s alpha: 0.827–0.860). The reference values for determining risk groups according to the intensity of exposure to workplace violence are presented separately by sex.
Conclusions
KWVS®13 is a robust and useful measurement tool to objectively and quantitatively assess the intensity and magnitude of workplace violence. It incorporates important considerations for workplace violence assessment and provides a reliable framework for evaluating workplace violence in various professional settings.
8.Carnitine Metabolite as a Potential Circulating Biomarker for Sarcopenia in Men
Je Hyun SEO ; Jung-Min KOH ; Han Jin CHO ; Hanjun KIM ; Young‑Sun LEE ; Su Jung KIM ; Pil Whan YOON ; Won KIM ; Sung Jin BAE ; Hong-Kyu KIM ; Hyun Ju YOO ; Seung Hun LEE
Endocrinology and Metabolism 2025;40(1):93-102
Background:
Sarcopenia, a multifactorial disorder involving metabolic disturbance, suggests potential for metabolite biomarkers. Carnitine (CN), essential for skeletal muscle energy metabolism, may be a candidate biomarker. We investigated whether CN metabolites are biomarkers for sarcopenia.
Methods:
Associations between the CN metabolites identified from an animal model of sarcopenia and muscle cells and sarcopenia status were evaluated in men from an age-matched discovery (72 cases, 72 controls) and a validation (21 cases, 47 controls) cohort.
Results:
An association between CN metabolites and sarcopenia showed in mouse and cell studies. In the discovery cohort, plasma C5-CN levels were lower in sarcopenic men (P=0.005). C5-CN levels in men tended to be associated with handgrip strength (HGS) (P=0.098) and were significantly associated with skeletal muscle mass (P=0.003). Each standard deviation increase in C5-CN levels reduced the odds of low muscle mass (odd ratio, 0.61; 95% confidence interval [CI], 0.42 to 0.89). The area under the receiver operating characteristic curve (AUROC) of CN score using a regression equation of C5-CN levels, for sarcopenia was 0.635 (95% CI, 0.544 to 0.726). In the discovery cohort, addition of CN score to HGS significantly improved AUROC from 0.646 (95% CI, 0.575 to 0.717; HGS only) to 0.727 (95% CI, 0.643 to 0.810; P=0.006; HGS+CN score). The improvement was confirmed in the validation cohort (AUROC=0.563; 95% CI, 0.470 to 0.656 for HGS; and AUROC=0.712; 95% CI, 0.569 to 0.855 for HGS+CN score; P=0.027).
Conclusion
C5-CN, indicative of low muscle mass, is a potential circulating biomarker for sarcopenia in men. Further studies are required to confirm these results and explore sarcopenia-related metabolomic changes.
9.Rapid Recovery From SARS-CoV-2Infection Among Immunocompromised Children Despite Limited Neutralizing Antibody Response: A Virologic and Sero-Immunologic Analysis of a Single-Center Cohort
Doo Ri KIM ; Byoung Kwon PARK ; Jin Yang BAEK ; Areum SHIN ; Ji Won LEE ; Hee Young JU ; Hee Won CHO ; Keon Hee YOO ; Ki Woong SUNG ; Chae-Hong JEONG ; Tae Yeul KIM ; June-Young KOH ; Jae-Hoon KO ; Yae-Jean KIM
Journal of Korean Medical Science 2025;40(12):e52-
Background:
Immunocompromised (IC) pediatric patients are at increased risk of severe acute respiratory syndrome coronavirus 2 infection, but the viral kinetics and seroimmunologic response in pediatric IC patients are not fully understood.
Methods:
From April to June 2022, a prospective cohort study was conducted. IC pediatric patients hospitalized for coronavirus disease 2019 (COVID-19) were enrolled. Serial saliva swab and serum specimens were subjected to reverse transcription polymerase chain reaction assays with mutation sequencing, viral culture, anti-spike-protein, anti-nucleocapsid antibody assays, plaque reduction neutralization test (PRNT) and multiplex cytokine assays.
Results:
Eleven IC children were evaluated. Their COVID-19 symptoms resolved promptly (median, 2.5 days; interquartile range, 2.0–4.3). Saliva swab specimens contained lower viral loads than nasopharyngeal swabs (P = 0.008). All cases were BA.2 infection, and 45.5% tested negative within 14 days by saliva swab from symptom onset. Eight (72.7%) showed a time-dependent increase in BA.2 PRNT titers, followed by rapid waning. Multiplex cytokine assays revealed that monocyte/macrophage activation and Th 1 responses were comparable to those of non-IC adults. Activation of interleukin (IL)-1Ra and IL-6 was brief, and IL-17A was suppressed. Activated interferon (IFN)-γ and IL-18/IL-1F4 signals were observed.
Conclusion
IC pediatric patients rapidly recovered from COVID-19 with low viral loads.Antibody response was limited, but cytokine analysis suggested an enhanced IFN-γ- and IL-18-mediated immune response without excessive activation of inflammatory cascades. To validate our observation, immune cell-based functional studies need to be conducted among IC and non-IC children.
10.Rapid Recovery From SARS-CoV-2Infection Among Immunocompromised Children Despite Limited Neutralizing Antibody Response: A Virologic and Sero-Immunologic Analysis of a Single-Center Cohort
Doo Ri KIM ; Byoung Kwon PARK ; Jin Yang BAEK ; Areum SHIN ; Ji Won LEE ; Hee Young JU ; Hee Won CHO ; Keon Hee YOO ; Ki Woong SUNG ; Chae-Hong JEONG ; Tae Yeul KIM ; June-Young KOH ; Jae-Hoon KO ; Yae-Jean KIM
Journal of Korean Medical Science 2025;40(12):e52-
Background:
Immunocompromised (IC) pediatric patients are at increased risk of severe acute respiratory syndrome coronavirus 2 infection, but the viral kinetics and seroimmunologic response in pediatric IC patients are not fully understood.
Methods:
From April to June 2022, a prospective cohort study was conducted. IC pediatric patients hospitalized for coronavirus disease 2019 (COVID-19) were enrolled. Serial saliva swab and serum specimens were subjected to reverse transcription polymerase chain reaction assays with mutation sequencing, viral culture, anti-spike-protein, anti-nucleocapsid antibody assays, plaque reduction neutralization test (PRNT) and multiplex cytokine assays.
Results:
Eleven IC children were evaluated. Their COVID-19 symptoms resolved promptly (median, 2.5 days; interquartile range, 2.0–4.3). Saliva swab specimens contained lower viral loads than nasopharyngeal swabs (P = 0.008). All cases were BA.2 infection, and 45.5% tested negative within 14 days by saliva swab from symptom onset. Eight (72.7%) showed a time-dependent increase in BA.2 PRNT titers, followed by rapid waning. Multiplex cytokine assays revealed that monocyte/macrophage activation and Th 1 responses were comparable to those of non-IC adults. Activation of interleukin (IL)-1Ra and IL-6 was brief, and IL-17A was suppressed. Activated interferon (IFN)-γ and IL-18/IL-1F4 signals were observed.
Conclusion
IC pediatric patients rapidly recovered from COVID-19 with low viral loads.Antibody response was limited, but cytokine analysis suggested an enhanced IFN-γ- and IL-18-mediated immune response without excessive activation of inflammatory cascades. To validate our observation, immune cell-based functional studies need to be conducted among IC and non-IC children.

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