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.

Purpose: The American Diabetes Association recommends that patients with diabetes engage in at least 150 minutes of physical activity (PA) per week and perform resistance exercise (RE) at least twice weekly. However, their benefits in controlling glucose levels among women with diabetes are not completely understood. Therefore, we investigated whether meeting PA or RE guidelines is associated with lower odds of uncontrolled glycated hemoglobin (HbA1c) among women. Materials and Methods: We analyzed 1213 women with diabetes from the Korea National Health and Nutrition Examination Survey 2014–2018. Using PA questionnaires, participants were categorized according to whether they met aerobic PA guidelines (≥150 minutes of moderate-to-vigorous PA), RE guidelines (≥twice weekly), or both. Further, HbA1c levels >7.5% were classified as uncontrolled glycemic levels. Multivariate logistic regression models were employed to investigate whether meeting PA or RE guidelines is associated with uncontrolled HbA1c. Results: There was no association between meeting aerobic PA guidelines of >150 minutes per week and uncontrolled HbA1c.However, participating in RE > twice weekly was associated with a 49% lower odds of HbA1c >7.5% in fully adjusted models (odds ratio: 0.51; 95% confidence interval: 0.30–0.87; p<0.05). Moreover, the association between RE participation and lower odds of HbA1c >7.5% was observed regardless of age, body mass index, and prevalence of hypertension. Conclusion Participation in RE may be important for women with diabetes for glycemic control. Further research is needed to better understand the associations between HbA1c and different exercise modalities (i.e., resistance vs. aerobic exercise) in women with diabetes.

Purpose: Esophagojejunostomy leakage (EJL) remains one of the most critical complications following total gastrectomy for gastric cancer. This study aimed to evaluate the evolving therapeutic approaches and clinical outcomes of EJL using data from a large-scale multicenter retrospective cohort. Methods: Among 6,577 patients who underwent total gastrectomy or proximal gastrectomy with double tract reconstruction at nine institutions from 2003 to 2024, 196 (3.0%) developed EJL. Of these, 162 patients with comprehensive clinical data were included in the final analysis. The study examined treatment modalities, changes in management over time, patient characteristics, surgical variables, and clinical outcomes. Four groups were defined according to treatment approach: conservative, endoscopic, reoperation, and multimodal (combined) therapy. Results: Endoscopic therapy was first introduced in 2011 and has progressively supplanted reoperation, now comprising 32.5% of cases. The average time to EJL diagnosis was 8.4 days after surgery. Overall in-hospital mortality was 6.1% (10/162). When conservative management was excluded, endoscopic treatment demonstrated the highest rate of therapeutic success (94.3%, p = 0.004). Both the duration until diet resumption and length of hospital stay were notably reduced in the endoscopic and conservative groups compared with reoperation and multimodal therapy (p < 0.001). Moreover, although the highest post-leakage hospitalization costs were observed with multimodal treatment (p < 0.001), overall hospitalization expenses were significantly lower for patients managed conservatively or with endoscopic intervention (p < 0.001). Conclusion Over the past two decades, management of EJL has shifted toward endoscopic approaches. Endoscopic therapies yield superior clinical outcomes and should be considered a primary option for appropriate candidates.

Purpose: There is increasing interest in the use of ultrasound for endoscopic and percutaneous procedures. Access can be achieved without radiation exposure under ultrasound guidance. Our aim was to develop a porcine-based training model for ultrasound-guided percutaneous renal access that could also be personalized to a specific patient. Materials and Methods: The Institutional Animal Care and Use Committee of Severance Hospital approved the study protocol. An anesthetized pig was placed in the dorsal lithotomy position. For the nephrostomy puncture, a Chiba biopsy needle with an echo tip was used under ultrasound guidance. Eight residents and three consultants in urology participated. Puncture time was defined as the nephrostomy time to confirm the flow of irrigation via the needle. After training, satisfaction survey results for clinical usability and procedural difficulty were evaluated. Results: The 5-point Likert scale satisfaction survey for clinical usability and procedural difficulty found mean results of 4.64 and 4.09 points, respectively. There were no differences between residents and consultants for either variable. For all participants combined, there was a significant difference for nephrostomy time between the first and second trials (278.8±70.6 s vs. 244.5±47.0 s;p=0.007). The between-trial difference was greater for residents (291.5±71.2 s vs. 259.1±41.9 s; p=0.039). The difference for the consultant was not significant (245.0±69.4 s vs. 205.7±42.5 s; p=0.250). Conclusions We developed a porcine-based ultrasound-guided nephrostomy puncture training model. Satisfaction survey results indicated high clinical usability and procedural difficulty. For nephrostomy time, the model was more effective for urology residents than for consultants.

Purpose: In men with metastatic castration-resistant prostate cancer (mCRPC), new bone lesions are sometimes not properly categorized through a confirmatory bone scan, and clinical significance of the test itself remains unclear. This study aimed to demonstrate the performance rate of confirmatory bone scans in a real-world setting and their prognostic impact in enzalutamide-treated mCRPC. Materials and Methods: Patients who received oral enzalutamide for mCRPC during 2014-2017 at 14 tertiary centers in Korea were included. Patients lacking imaging assessment data or insufficient drug exposure were excluded. The primary outcome was overall survival (OS). Secondary outcomes included performance rate of confirmatory bone scans in a real-world setting. Kaplan-Meier analysis and multivariate Cox regression analysis were performed. Results: Overall, 520 patients with mCRPC were enrolled (240 [26.2%] chemotherapy-naïve and 280 [53.2%] after chemotherapy). Among 352 responders, 92 patients (26.1%) showed new bone lesions in their early bone scan. Confirmatory bone scan was performed in 41 patients (44.6%), and it was associated with prolonged OS in the entire population (median, 30.9 vs. 19.7 months; p < 0.001), as well as in the chemotherapy-naïve (median, 47.2 vs. 20.5 months; p=0.011) and post-chemotherapy sub-groups (median, 25.5 vs. 18.0 months; p=0.006). Multivariate Cox regression showed that confirmatory bone scan performance was an independent prognostic factor for OS (hazard ratio 0.35, 95% confidence interval, 0.18 to 0.69; p=0.002). Conclusion Confirmatory bone scan performance was associated with prolonged OS. Thus, the premature discontinuation of enzalutamide without confirmatory bone scans should be discouraged.

Bronchopulmonary dysplasia (BPD) and pulmonary hypertension (PH) are potentially fatal complications in prematurely born infants. Extracorporeal membrane oxygenation (ECMO) may be a life-saving option for managing infants with BPD and PH. We present 2 patients who were successfully weaned off mechanical ventilators (MVs) through the application of ECMO. The patients were transferred to our institution after receiving MV care for 8 and 10 months, respectively, for BPD and PH. We were able to remove the patients from MVs after a period of ECMO-mediated lung rest. Although more research is required to determine specific criteria for ECMO use in patients with BPD and PH, our clinical experiences may contribute to the early application of ECMO in MV-dependent patients.

Background/Aims: A few studies have suggested the association between Helicobacter pylori (HP) infection and ischemic stroke. However, the impact of HP eradication on stroke risk has not been well evaluated. This study aimed to assess the influence of HP eradication on the incidence of ischemic stroke, considering the potential effect of sex. Methods: This prospective observational cohort study was conducted at Seoul National University Bundang Hospital, from May 2003 to February 2023, and involved gastroscopy-based HP testing. Propensity score (PS) matching was employed to ensure balanced groups by matching patients in the HP eradicated group (n=2,803) in a 3:1 ratio with patients in the HP non-eradicated group (n=960). Cox proportional hazard regression analysis was used to evaluate the risk of ischemic stroke. Results: Among 6,664 patients, multivariate analysis after PS matching indicated that HP eradication did not significantly alter the risk of ischemic stroke (hazard ratio, 0.531; 95% confidence interval, 0.221 to 1.270; p=0.157). Sex-specific subgroup analyses, both univariate and multivariate, did not yield statistically significant differences. However, Kaplan-Meier analysis revealed a potential trend: the females in the HP eradicated group exhibited a lower incidence of ischemic stroke than those in the HP non-eradicated group, although this did not reach statistical significance (p=0.057). Conclusions This finding suggests that HP eradication might not impact the risk of ischemic stroke. However, there was a trend showing that females potentially had a lower risk of ischemic stroke following HP eradication, though further investigation is required to establish definitive evidence.

Purpose: Results of initial endoscopic biopsy of gastric lesions often differ from those of the final pathological diagnosis. We evaluated whether an artificial intelligence-based gastric lesion detection and diagnostic system, ENdoscopy as AI-powered Device Computer Aided Diagnosis for Gastroscopy (ENAD CAD-G), could reduce this discrepancy. Materials and Methods: We retrospectively collected 24,948 endoscopic images of early gastric cancers (EGCs), dysplasia, and benign lesions from 9,892 patients who underwent esophagogastroduodenoscopy between 2011 and 2021. The diagnostic performance of ENAD CAD-G was evaluated using the following real-world datasets: patients referred from community clinics with initial biopsy results of atypia (n=154), participants who underwent endoscopic resection for neoplasms (Internal video set, n=140), and participants who underwent endoscopy for screening or suspicion of gastric neoplasm referred from community clinics (External video set, n=296). Results: ENAD CAD-G classified the referred gastric lesions of atypia into EGC (accuracy, 82.47%; 95% confidence interval [CI], 76.46%–88.47%), dysplasia (88.31%; 83.24%– 93.39%), and benign lesions (83.12%; 77.20%–89.03%). In the Internal video set, ENAD CAD-G identified dysplasia and EGC with diagnostic accuracies of 88.57% (95% CI, 83.30%– 93.84%) and 91.43% (86.79%–96.07%), respectively, compared with an accuracy of 60.71% (52.62%–68.80%) for the initial biopsy results (P<0.001). In the External video set, ENAD CAD-G classified EGC, dysplasia, and benign lesions with diagnostic accuracies of 87.50% (83.73%–91.27%), 90.54% (87.21%–93.87%), and 88.85% (85.27%–92.44%), respectively. Conclusions ENAD CAD-G is superior to initial biopsy for the detection and diagnosis of gastric lesions that require endoscopic resection. ENAD CAD-G can assist community endoscopists in identifying gastric lesions that require endoscopic resection.

Objective: This study analyzed the characteristics and accident patterns of electric scooter accidents using in-depth survey data from 23 hospital emergency rooms (ER) in Korea. The characteristics of accident types were examined depending on alcohol consumption. Methods: An in-depth investigation was conducted on ER patients involved in electric scooter accidents between 2014 and 2021. The research focused on variables such as age, time of ER visit, alcohol use, emergency room discharge outcome, injury severity, and areas of injury. Results: One thousand nine hundred and sixty-two electric scooter injuries were examined. The riders belonged predominantly to the 20-39 years age group (60.40%), and most were males (69.67%). Visits to the ER peaked between 6 pm and 12 am (36.29%). Alcohol was implicated in 24.52% of the accidents. Head and neck injuries occurred commonly (60.70%). The number of accidents increased from 4 to 843. Moreover, alcohol-related incidents surged annually, except during 2014-2015. The alcohol use group comprised more males than the non-alcohol use group (79.42% vs. 66.51%). Accidents occurred more commonly in the 20-39 years age group (76.92% vs. 55.03%), and a higher proportion of emergency room visits occurred between 0 am and 6 am (58.84% vs. 39.43%). Cases with severe Excess Mortality Ratio-adjusted Injury Severity Scores were more frequent (29.29% vs. 12.97%), and head and neck injuries were more common (83.78% vs. 53.21%). Conclusion The regulations for licensing, alcohol use, and helmet compliance should be enforced to reduce the incidence of alcohol-related electric scooter accidents in the younger population.