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.

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.

Purpose: Radical cystectomy (RC), which is the standard of care for muscle-invasive and high-grade noninvasive bladder cancer, is accompanied by postoperative renal function deterioration. We aimed to evaluate the effect of serum albumin level on postoperative renal function decline after RC. Materials and Methods: A total of 272 patients with estimated glomerular filtration rate (eGFR) ≥60 mL/minute/1.73 m 2 who underwent RC between October 2003 and December 2020 were included. Acute kidney injury (AKI) was defined according to the KDIGO (Kidney Disease Improving Global Outcomes) criteria, while postoperative chronic kidney disease (CKD) progression was defined as an eGFR <60 mL/minute/1.73 m 2 at ≥3 months after RC. Results: In our cohort, 20 (7.4%) and 99 (36.4%) patients experienced postoperative AKI and CKD progression, respectively, with a median follow-up period of 51.5 months. The median preoperative serum albumin level and eGFR were 4.1 g/dL and 82.0 mL/minute/1.73 m 2 , respectively. Preoperative serum albumin less than the median (4.1 g/dL) was associated with postoperative AKI (odds ratio [OR] 3.76, p=0.027) and CKD progression (OR 2.87, p<0.001) after adjusting for other factors. Conclusions Serum albumin level <4.1 g/dL was associated with short- and long-term renal function decline after RC, suggesting that close monitoring of renal function after RC might be considered in these patients.

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 Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WESbased association study aimed at identifying genetic modifiers implicated in MMD. Methods: This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WESidentified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed. Results: Fourteen mutations reached the genome-wide significance criterion (p<5×10-8 ), among which the p.R4810K mutation in the ring finger protein 213 gene (RNF213) showed the strongest significance (odds ratio=117.4, p=8.54×10-24 ). Notably, two mutations—p.G576S (alpha-glucosidase [GAA]) and p.D54N (charged multivesicular body protein 6 [CHMP6])— exhibited high CADD scores of 32 and 25, respectively, whereas the RNF213 p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (p<1×10-8 ).The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: GAA, RNF213, CHMP6, and CARD14 (p=5×10-19 to 4×10-7 ). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (p<3×10-8 ). Conclusions This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.

Subarachnoid hemorrhage (SAH) is a stroke subtype with high mortality and poor functional outcomes. Prompt occlusion of a ruptured aneurysm at an early stage is crucial to prevent rebleeding, which can result in even higher mortality and more severe disabilities. The most critical initial decision in SAH management is the choice of treatment method with surgical clipping or endovascular coiling. We aimed to develop an evidence-based clinical guideline to select the optimal initial treatment in patients with SAH. We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer two population, intervention, comparison, outcome questions comparing clipping and coiling. The risk of bias was assessed using ROB 2.0 and the Newcastle-Ottawa Scale. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcome and mortality. We included six randomized control trials (RCTs) and 58 observational studies. Meta-analysis of RCTs showed that coiling improved functional outcomes compared to clipping (odds ratio [OR], 0.91; 95% confidence interval [CI], 0.86–0.97). No significant mortality difference was observed in RCTs (OR, 1.38; 95% CI, 0.91–2.09), but non-RCTs favored clipping for reduced mortality (OR, 0.77; 95% CI, 0.69–0.86). However, it is difficult to generalize these findings to all clinical situations, as patients with SAH have a highly variable clinical course. Final treatment decision should be tailored to the individual patient’s status, including aneurysm location, morphology, and the expertise available at the treatment center. Such decisions are best made by specialists such as a board-certified physician and should be explained to the patient and their caregivers, along with the rationale for selecting the most appropriate treatment at the given hospital. Korea has many certified endovascular neurosurgeons, cerebrovascular surgeons, and certified cerebrovascular centers. Proper selection of the most suitable treatment method by certified physicians and centers would greatly benefit patient outcomes and healthcare professionals.

Objective: : This study investigated the relationship between arterial partial pressure of oxygen (PaO2) levels in the first 24 hours of intensive care unit (ICU) admission and clinical outcomes in neurocritically ill brain tumor patients. Methods: : In this single-center retrospective study of 2123 brain tumor patients, we analyzed PaO2 levels from arterial blood gas samples within 24 hours of ICU admission. The primary endpoint was 28-day mortality. Analysis utilized multivariable logistic regression and inverse probability of treatment weighting (IPTW). Results: : PaO2 exceeding 91.5 mmHg was defined as hyperoxia. The non-hyperoxia group showed higher 28-day mortality than the hyperoxia group (15.5% vs. 6.0%, p<0.002), a trend that persisted after IPTW adjustment (10.7% vs. 6.6%, p=0.019). In IPTW-adjusted regression, non-hyperoxia remained significant (adjusted odds ratio [OR], 3.24; 95% confidence interval [CI], 1.82–5.77). Survival analysis demonstrated significantly higher survival rates in the hyperoxia group (p<0.001). Subgroup analysis revealed significant heterogeneity across tumor types (p for interaction <0.001), with protective effects observed in malignant brain tumors (adjusted OR, 3.5; 95% CI, 1.88– 6.51) and brain metastases (adjusted OR, 3.86; 95% CI, 2.31–6.44), but not in benign tumors (adjusted OR, 1.14; 95% CI, 0.22–5.87). Conclusion : Elevated PaO2 levels within the first 24 hours of ICU admission were associated with decreased mortality rates, suggesting oxygenation as a potential therapeutic target in brain tumor patients. The protective effects were most pronounced in patients with malignant brain tumors and brain metastases, supporting a tumor type-specific approach to oxygenation management.

Accurate and early identification of stroke and large vessel occlusion (LVO) in emergency settings is essential for improving patient outcomes and ensuring the efficient allocation of medical resources. This clinical practice guideline systematically reviews domestic and international literature and conducts meta-analyses to evaluate the utility and diagnostic accuracy of stroke assessment tools used in prehospital emergency medical services (EMS). We developed a guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted to evaluate the usefulness of diagnostic EMS assessment tools for diagnosing stroke and LVO. Overall, 70 non-randomized control studies were selected for this study. A meta-analysis was conducted with a subgroup analysis to distinguish between patients with stroke and those with LVO. EMS tools demonstrated high sensitivity but low specificity for diagnosing stroke. In the prehospital setting, using validated EMS stroke assessment tools is recommended for the early identification of stroke and LVO. Upon hospital arrival, stroke specialists should conduct further evaluation and triage to confirm the diagnosis and guide appropriate management. Delays in diagnosing LVO are frequently unacceptable. While experts advocate for the use of EMS assessment tools to facilitate early identification of LVO, these tools alone lack adequate sensitivity. Therefore, further diagnostic evaluations and consultation with stroke specialists upon hospital arrival are recommended.

The mothership (MS) model, where patients are directly transferred to a thrombectomy-capable center, and the drip-and-ship (DS) model, where thrombolysis is initiated at the nearest primary stroke center before transfer for thrombectomy, are the primary transport modes for patients with stroke. We aimed to establish guidelines for selecting the appropriate transfer strategy based on emergent large vessel occlusion (LVO). We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer three Population, Intervention, Comparison, and Outcome questions comparing MS and DS models. The risk of bias was assessed using the Newcastle-Ottawa Scale. Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcomes, mortality, and successful recanalization. Twenty-six non-randomized controlled studies showed that the MS model improved good functional outcomes by approximately 14% compared with the DS model (odds ratio [OR], 1.14; 95% confidence interval [CI], 1.00–1.30). Fifteen studies reported that mortality in the MS and DS models showed no significant differences (OR, 0.97; 95% CI, 0.84–1.11). Twenty-four studies revealed no significant difference in successful recanalization between the MS and DS models (OR, 0.87; 95% CI, 0.68–1.10). The MS model should be considered first to improve the functional outcome of patients with LVO. However, if thrombectomy cannot be performed immediately after thrombolysis, or if a thrombectomy-enabled hospital is not nearby, the DS model should be considered by stroke specialists depending on transportation time and regional factors. We suggest a mixed approach with the DS model based on specific circumstances or regions to ensure the optimum treatment of patients with acute ischemic stroke (AIS). Appropriate transport for patients with LVO improves the prognosis of AIS.