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: Although several reports have addressed tendinous mallet finger (TMF), they have not identified which method best informs surgeons about the extent of residual extension lag in these patients. We aimed to assess the association between sonographic classification of acute TMF and the degree of extension lag remaining at the final follow-up. Methods: The inclusion criterion was acute TMF with symptom onset within 2 weeks. Thirty-eight patients (23 male and 15 female) participated, with a mean follow-up of 17.1 months (range, 12.3–23.5 months). Range of motion, including extension lag, was measured at both the initial presentation and the final follow-up. All patients were managed conservatively using a finger splint for a period exceeding 6 weeks. Ultrasonography was performed for all participants to assess the severity of terminal extensor tendon injury. Statistical analyses examined the relationship between sonographic type and extension lag at final follow-up. Results: At initial presentation, the mean extension lag was 46.0°, which improved to 17.5° at the last follow-up. TMF cases were categorized into 3 sonographic types (hypo-echoic, thinned, and wavy) based on ultrasound characteristics. A significant difference in extension lag at final follow-up was observed among the TMF groups (p = 0.005). Patients with the wavy type had the greatest mean extension lag, whereas those with the hypo-echoic type had the least mean extension lag, with statistical significance. Conclusions Sonographic assessment of TMF can aid in predicting residual extension lag in patients with TMF undergoing conservative treatment with a finger splint.

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.

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.

Background/Aims: We investigated whether patients with inflammatory bowel disease (IBD) in Korea have an increased risk of hepatitis A virus (HAV) and hepatitis C virus (HCV) infections and sought to identify the risk factors for these infections. Methods: We performed a nationwide population-based study using 2013–2021 data from the Korean National Health Insurance Claims Database. We calculated the incidence rates and standardized incidence ratios (SIRs) of HAV and HCV infections in patients with IBD compared with the overall Korean population. Results: A total of 43,513 patients were included in this study. A total of 317 cases of HAV were identified in 276,007 perdison- years, while 297 cases of HAV developed in the Korean general population. The SIR of HAV in the patients with IBD was 1.07 (95% confidence interval [CI], 0.96–1.19) and the increase of HAV infection in patients with IBD was not statistically significant. A total of 289 cases of HCV infection were identified in 276,538 person-years, while 242 cases of HCV infection developed in the Korean general population. The SIR of HCV in patients with IBD was 1.19 (95% CI, 1.06–1.34) and the increase of HCV infection in patients with Crohn's disease (SIR, 1.63; 95% CI, 1.31–2.04). Corticosteroid use was identified as a risk factor for HAV and HCV infections in patients with IBD. Conclusions HCV showed an increasing trend in Korean patients with IBD, especially those with Crohn's disease. Corticosteroids use is a risk factor for hepatitis in patients with IBD.

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.