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: 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.

Objectives: This study evaluated the feasibility of voice recognition-based electronic medical record (EMR) documentation for periodontal probing in dentistry, particularly emphasizing Korean-English bilingual speech patterns and real-world clinical conditions. Methods: Experiments were conducted in a dental chair setting during routine clinical hours. Environmental noise levels were measured, and two microphone types (stationary and pin-type) were evaluated. Periodontal probing phrases composed of three-digit numbers and positional terms were used for speech recognition. Consistent with common clinical practice in Korea, numerical values were spoken in Korean, whereas positional terms were spoken in English. Two speech-to-text application programming interfaces, Google Cloud Speech-to-Text and Naver Clova Speech Recognition, were assessed. Recognition accuracy was evaluated for both numerical components and complete bilingual phrases. Results: The mean environmental noise level was 60.65 dB and was minimally influenced by activity at adjacent dental chairs. The stationary microphone failed to capture speech effectively, whereas the pin-type microphone demonstrated stable recognition performance. For three-digit number recognition, accuracy was 88.3% with Google and 96.8% with Naver. For full-phrase recognition, complete matching was achieved in 36.7% of cases for Google and 52.5% for Naver. Partial recognition occurred more frequently for numerical components than for English positional terms. Conclusions Voice recognition-based EMR documentation for periodontal probing demonstrated preliminary feasibility in a dental clinical environment; however, performance was influenced by Korean-English bilingual speech patterns. These findings suggest that bilingual speech characteristics should be considered when implementing voice recognition systems in dental EMR workflows. Further optimization is required before routine clinical application.

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.

Purpose: This study evaluated the long-term clinical outcomes of silicone tube intubation using a Nunchaku® (FCI Ophthalmics Inc., Pembroke, MA, USA) tube in adult patients with epiphora. Methods: A prospective study was conducted on 42 eyes in 32 patients who underwent silicone tube intubation with a Nunchaku® tube between March 2023 and September 2023. Clinical manifestations, Munk scale scores, lacrimal syringing test results, and tear meniscus height were assessed before and after surgery. Surgical success was defined as a Munk score of ≤ 1. Results: The mean age of the participants was 56.2 years. Preoperative lacrimal irrigation testing revealed partial obstruction in 29 eyes (69.0%), patent passage in 11 eyes (26.2%), and punctal stenosis in 2 eyes (4.76%). The mean operative time was 6.4 minutes for monocular procedures and 9.7 minutes for binocular procedures. At three months postoperatively, 33 eyes (78.6%) in 28 patients achieved a Munk scale score of ≤ 1. No significant differences were observed between the surgical success and failure groups in terms of preoperative Munk scale scores, lacrimal syringing test results, or tear meniscus height. One patient who underwent binocular surgery experienced worsening symptoms in both eyes postoperatively with associated punctal inflammation and granuloma formation necessitating early silicone tube removal. Slit punctum was observed in 17 eyes across 11 patients, six of whom underwent a snip procedure during surgery. Conclusions Silicone tube intubation using the Nunchaku-style tube is a relatively simple and effective treatment for nasolacrimal duct obstruction. However, an increased incidence of lacrimal punctum-related complications was observed compared to previous studies, indicating the need for caution when performing the snip procedure concurrently.

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.

Background: s/Aims: Phase angle (PhA), as measured by bioelectrical impedance analysis, provides insights into hydration and nutritional status, making it a prognostic indicator of frailty. While low preoperative PhA has been linked to postoperative complications in cancer patients, its predictive value in individuals undergoing pancreaticoduodenectomy (PD) has not been thoroughly investigated.This study aims to evaluate the clinical utility of preoperative PhA in predicting postoperative complications for patients undergoing PD. Methods: Among 41 patients who underwent PD at Seoul National University Hospital between September and December 2024, 35 were included in the analysis after excluding 6 patients who had concomitant blood vessel or other organ resections. Patients were divided into low (Comprehensive Complication Index [CCI] ≤ 20) and high (CCI > 20) complication groups based on the CCI, derived from the Clavien–Dindo classification. The differences in PhA between the two groups were analyzed, and logistic regression was performed to assess the relationship between PhA and CCI. Results: The mean PhA was significantly lower in the high-CCI group compared to the low-CCI group (5.7° vs. 6.7°, p = 0.025). Multivariate logistic regression analysis indicated that PhA (odds ratio: 0.17; 95% confidence interval: 0.04–0.68; p = 0.012) was an independent predictor of high CCI. A low preoperative PhA was associated with an increased risk of postoperative complications following PD. Conclusions Preoperative PhA may serve as a valuable predictive indicator of postoperative complications after PD, enabling the identification of patients who could benefit from preoperative prehabilitation, including nutritional support.

Background: Mycoplasma pneumoniae is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations.We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP. Methods: From September 2023 to September 2024, we prospectively enrolled children with CAP, classified as M. pneumoniae pneumonia (MPP) or non-MPP, from 16 hospitals in Korea. Serological testing included chemiluminescence immunoassay (CLIA) and ELISA for detecting IgM and IgG, along with particle agglutination (PA) for total antibody measurements. Serological responses were analyzed at different times after symptom onset (0–4, 5–9, and 10–21 days). Results: Among 472 children with CAP (362 MPP, 110 non-MPP), 138 (29.2%) underwent PA testing, and 334 (70.8%) underwent IgM testing. PA at a 1:640 cutoff showed 48.0% sensitivity and 100% specificity. CLIA and ELISA showed comparable sensitivities (69.1% vs. 69.2%) and specificities (76.9% vs. 66.7%) for IgM testing. Seropositivity increased significantly with time since symptom onset (P for trend < 0.001), reaching 97.9% for IgM, 62.5% for IgG, and 94.7% for PA at 10–21 days. Conclusions The time post-symptom onset significantly influenced the diagnostic utility of serological tests for pediatric MPP, which showed limited value during the early stage of illness. These findings emphasize the importance of symptom onset-based interpretation of serological test results and their utility in complementing PCR when optimizing MPP diagnosis in children.