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.

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.

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.

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.

Purpose: To investigate the association between metabolic syndrome (MetS) and nocturia in a nationally representative U.S. adult population, focusing on individual metabolic components and subgroup differences by age and sex. Materials and Methods: We analyzed data from 8,518 adults aged ≥20 years who participated in the National Health and Nutrition Examination Survey from 2005 to 2014. Nocturia was defined as ≥2 nighttime voids. MetS was defined by the presence of ≥3 National Cholesterol Education Program Adult Treatment Panel III criteria. Multivariate logistic regression and restricted cubic spline (RCS) analyses were used to assess associations, adjusting for demographic and behavioral covariates. Results: Overall, 23.3% of participants had MetS and 29.6% reported nocturia. MetS was independently associated with nocturia (adjusted odds ratio [OR] 1.387, 95% confidence interval 1.236–1.557). A dose–response relationship was observed, with nocturia risk increasing. Central obesity (OR 1.564), elevated fasting glucose (OR 1.397), and elevated blood pressure (OR 1.311) showed the strongest associations. RCS analyses revealed linear associations for waist circumference and systolic blood pressure, and nonlinear associations for diastolic blood pressure and glucose. Sex-specific analyses revealed distinct nonlinear patterns, particularly for waist circumference among male participants and triglyceride levels among female participants. The association remained consistent across most age and sex groups, except in males aged 20–40 years. Conclusions MetS and its components are independently associated with nocturia. The observed sex-specific differences suggest that metabolic contributors to nocturia may differ by sex supporting nocturia as a potential clinical marker of underlying cardiometabolic dysfunction.

Background: and Purpose To compare the epidemiological and clinical features of the rare patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with age- and sex-matched controls in a nationwide cohort from South Korea. Methods: This observational cohort study analyzed newly diagnosed CADASIL patients aged at least 20 years and matched controls using data from the National Health Information Database for 2004–2022. The cumulative incidence of CADASIL was assessed by age and sex, and compared between regions. Neurologic and systemic diseases were compared between the CADASIL and control groups. Results: The study analyzed 816 CADASIL patients and 816 age- and sex-matched controls aged 56.8±15.2 years (mean±standard deviation), among whom 48.3% were male. The cumulative incidence of CADASIL was 1.86 per 100,000 people (95% confidence interval [CI]=1.85– 1.87 per 100,000), and peaked at 60–69 years of age. In terms of regional distribution, the incidence was highest for Jeju, at 39.67 per 100,000 (95% CI 37.84–41.49 per 100,000). Neurologic diseases were more frequent in CADASIL patients, including Alzheimer’s disease (33.1% vs.20.0%), vascular dementia (84.9% vs. 5.0%), epilepsy (34.6% vs. 15.9%), stroke (70.7% vs. 27.6%), parkinsonism (18.9% vs. 11.0%), and depression (60.8% vs. 44.9%). Systemic diseases such as diabetes mellitus (78.9% vs. 68.9%) were also more common in CADASIL patients, while cancer (27.9% vs. 38.7%) and myocardial infarction (10.0% vs. 13.6%) were less common than in controls. The onset ages of all diseases were lower in CADASIL patients. Conclusions This study has provided a precise nationwide estimate of the CADASIL incidence and its regional distribution in South Korea. CADASIL patients showed higher incidence rates and earlier onsets of diverse clinical manifestations.

Background: and Purpose Intraoperative visual evoked potential (VEP) monitoring has been studied mainly in pituitary adenoma, while its role in nonpituitary suprasellar tumors has remained unclear. This study evaluated the predictive usefulness of intraoperative VEP monitoring during endoscopic endonasal surgery (EES) and aimed to identify optimal alarm criteria for visual outcomes. Methods: We retrospectively analyzed a cohort of 87 patients who underwent EES with intraoperative VEP monitoring between April 2021 and September 2023. Visual outcomes were evaluated preoperatively and at short-term (≤3 months) and long-term (12 months) followups, with visual deterioration at these time points defined as worsening of either visual acuity or the visual field. Reductions in the VEP amplitude were quantified using both the maximum intraoperative decrease and the final amplitude after recovery. Receiver operating characteristic (ROC) curve analyses were performed to identify the optimal alarm thresholds, and the sensitivity, specificity, positive predictive value, and negative predictive value were calculated for short-term and long-term visual deteriorations. Results: Short-term and long-term visual deteriorations were detected in 12 (9.2%) and 5 (3.8%) of the 130 analyzed eyes, respectively. ROC curve analyses identified ≥40% and ≥30% reductions in the N75–P100 amplitude as optimal alarm criteria for short-term and long-term visual deteriorations, respectively. A 30% reduction without intraoperative recovery demonstrated markedly higher sensitivity than the conventional 50% alarm threshold for short-term (58.3% vs. 33.3%) and long-term (80.0% vs. 20.0%) outcomes, while maintaining acceptable specificity (82.2% and 80.8%, respectively). Conclusions A 30% reduction in amplitude represents a more-sensitive and clinically relevant alarm threshold than a 50% reduction for intraoperative VEP monitoring during EES for nonpituitary suprasellar tumors. Incorporating both the magnitude and recovery pattern of VEP amplitude changes may improve the accuracy of predictions of long-term visual deterioration. However, the potential for false positives warrants cautious interpretation, and further studies are needed to validate the impact of intraoperative VEP monitoring on visual outcomes.

A 76-year-old male presented with dizziness and disequilibrium. Magnetic resonance imaging revealed an acute ischemic stroke in the left anterior inferior cerebellar artery (AICA) territory. Three days after admission the patient developed peripheral facial palsy with no radiological exacerbation of the infarction. He was managed with antiplatelet therapy and supportive care. Both the facial palsy and initial cerebellar symptoms resolved within 1 month. This case highlights delayed facial palsy as a rare presentation of AICA infarction.

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.

Background: Acne vulgaris commonly affects both the face and trunk, yet truncal acne remains underrecognized and less studied in adolescents. Objective: This study aimed to assess the prevalence, perceived severity, stress levels, treatment behaviors, and willingness to seek care in adolescents based on acne location. Methods: A cross-sectional survey was conducted among 211 first-year high school students (104 males, 107 females) in Incheon, South Korea. A structured questionnaire captured data on acne location, severity, stress, treatment history, and willingness to seek care. Analyses included descriptive statistics, χ2 tests, t-tests, and Spearman correlation. Results: Facial acne was reported by 86.7% of participants and truncal acne by 47.4%. The presence of facial and truncal acne was significantly associated (p<0.05), with truncal acne developing approximately one year after facial acne onset (p<0.05). While the mean subjective severity scores for facial (1.61±0.63) and truncal acne (1.57±0.79) were similar (p>0.05), stress levels were significantly higher for facial acne (p<0.05). Treatment rates were substantially lower for truncal acne (17.6%) compared to facial acne (48.6%), despite comparable willingness to seek clinical care. Conclusion Truncal acne is common but undertreated in adolescents. Despite comparable willingness to seek care, actual treatment rates remain low, underscoring a critical gap in management. Given the significant co-occurrence and risk of sequelae, clinicians should routinely assess for truncal acne in adolescents with facial acne and adopt a holistic management strategy addressing both areas.