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.

Objective: This study compared clinical and cosmetic outcomes of cranioplasty using customized three-dimensional (3-D) printed implants versus autologous bone in patients with aneurysmal subarachnoid hemorrhage (aSAH) after decompressive craniectomy (DC). Methods: We retrospectively reviewed 50 patients who underwent cranioplasty after DC for aSAH between July 2018 and December 2023. Patients were divided into the three-dimensional cranioplasty(3-DC, n=26) and autologous bone cranioplasty (AC, n=24) groups. Demographics, aneurysm characteristics, surgical parameters, morphometric analysis of defect coverage, complications, and functional outcomes assessed by the modified Rankin Scale (mRS) were compared. Results: A total of 54 hemispheres underwent cranioplasty. Compared with AC, the 3-DC group had larger defects but achieved higher coverage (96.7% vs. 93.4%, p=0.044) and smaller residual defects (338.7±274.2 mm² vs. 528.5±331.3 mm², p=0.049). Complication rates were lower in 3-DC (9 cases) than AC (15 cases, p=0.0994). Wound dehiscence and fluid collection were more frequent with 3-DC, while bone flap resorption and epidural abscess occurred only with AC. Revision surgery was required in six patients, five initially treated with autologous bone. Neurological outcomes (mRS) were maintained or improved in both groups. Conclusions In aSAH patients undergoing cranioplasty after DC, customized 3-D printed implants achieved significantly better anatomical restoration and showed a numerical trend toward fewer complications compared with autologous bone. While AC remains feasible, its risks of resorption and infection often necessitate revision. 3-D printed implants may be considered a reasonable alternative, particularly in aSAH patients at higher risk of complications.

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.

Objective: This study aimed to compare the therapeutic outcomes of no-touch (NT) radiofrequency ablation (RFA) vs. tumorpuncture microwave ablation (MWA) in the treatment of single hepatocellular carcinomas (HCCs) measuring ≤3 cm. Materials and Methods: This multicenter retrospective study included 304 patients who underwent either NT-RFA (n = 144) or MWA (n = 160) for a single HCC measuring ≤3 cm. Comparative analyses were conducted for the overall cohort, while 81 patients per group were matched using propensity score matching (PSM). The analyzed outcomes included technical success, primary technique efficacy, local tumor progression (LTP), and major complications. Cumulative LTP was estimated using Kaplan–Meier analysis and compared using the log-rank text, while the rate of ablative margin ≥5 mm and ablation time were compared using Chi-squared and Mann–Whitney U tests, respectively. Results: Technical success was achieved in 98.6% (142/144) and 100% (160/160) of in the NT-RFA and MWA patients, respectively before PSM (P = 0.224), and 98.8% (80/81) and 100% (81/81) after PSM (P = 1.000). The primary technique efficacies were 98.6% (142/144) and 100% (160/160) before PSM (P = 0.224), and 97.5 % (79/81) and 100% (81/81) after PSM (P = 0.497), respectively. The 1-, 2-, and 3-year cumulative LTP rates were 1.4%, 1.4%, and 2.3%, respectively, for NTRFA and 5.1%, 8.6%, and 8.6%, respectively, for MWA before PSM (P = 0.013). After PSM, the corresponding rates were 0%, 0%, and 0% for NT-RFA, and 7.6%, 10.4%, and 10.4% for MWA (P = 0.006). Major complications were not observed. NT-RFA achieved a higher proportion, with an ablative margin ≥5 mm (88.7% [126/142] vs. 71.9% [115/160]; P < 0.001), but required longer ablation times (median, 10.0 vs. 6.0 min; P < 0.001). Conclusion NT-RFA showed superior local tumor control compared to MWA, despite greater procedural complexity and longer ablation times.

Chrysoeriol, a flavonoid naturally found in several plants, including Danggui Susan, a traditional herbal medicine, exhibits promising anti-inflammatory and antioxidant properties. Its potential to prevent cardiovascular diseases, primarily through inhibiting platelet activation and aggregation, has attracted significant interest. This study aimed to investigate the molecular mechanisms underlying the antiplatelet effects of chrysoeriol. The compound effectively suppressed collagen-induced platelet aggregation without inducing cytotoxicity. Chrysoeriol elevated intracellular levels of cyclic AMP (cAMP) and cyclic GMP (cGMP), enhanced inositol 1,4,5-trisphosphate receptor (IP 3R) phosphorylation, and reduced cytosolic calcium (Ca2+ ) mobilization, all of which contributed to its antiplatelet action. Furthermore, chrysoeriol inhibited the phosphorylation of PI3K, Akt, JNK, and p38 MAPK, pathways involved in the activation of cytosolic phospholipase A2 (cPLA 2) and thromboxane A2 (TXA2) production. These effects were accompanied by reduced TXA2 production and secretion of dense granules (ATP and serotonin). Chrysoeriol also impaired thrombin-induced clot retraction, further suggesting its capacity to regulate platelet responses and cytoskeletal rearrangements. These findings highlight chrysoeriol’s multi-target mechanisms, including modulation of cyclic nucleotides, kinase pathways, and platelet function, offering potential as a therapeutic agent to prevent thrombotic cardiovascular events.

Purpose: This 6-year post-marketing surveillance (PMS) study was conducted in South Korea to evaluate the real-world safety and effectiveness of eribulin in patients with advanced or metastatic breast cancer previously treated with anthracyclines and taxanes. Materials and Methods: During the study period (17 August 2012 to 16 August 2018), case-report files (CRFs) of patients receiving eribulin were collected. The main study endpoint was to assess the safety of eribulin. Evaluation of the effectiveness of eribulin was an exploratory endpoint. Patients were followed for 1 year after eribulin initiation. Results: CRFs were collected from 64 investigators at 64 sites for 1,079 patients. The safety analysis set (SAS) included 1,001 eribulin recipients; effectiveness was assessed in 244 patients. In the SAS, patients were predominantly female (99.6%), with a median age of 53.0 years, and diagnosed with metastatic breast cancer (92.0%). Eribulin was administered as a median 4th line chemotherapy. A total of 2,124 treatment-emergent adverse events (TEAEs) were reported in 661 patients (66.0%). Neutropenia was the most common TEAE (32.5% of patients), occurring at a median of 9-11 days from initial eribulin administration. Overall response and disease control rates were 31.7% and 95.6%, respectively, and the median duration of eribulin use (time to treatment failure) was 3.0 months. Conclusion This large real-world PMS analysis in patients with advanced or metastatic breast cancer demonstrated the effectiveness of eribulin and found no new safety concerns relative to safety information from prior clinical and real-world studies, and approvals in South Korea and other countries.

Background: and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK. Methods: Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations. Results: Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%). Conclusions These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.

Background/Aims: Post-infectious irritable bowel syndrome (PI-IBS) is characterized by chronic gastrointestinal symptoms that arise following an episode of infectious enteritis. The incidence rates vary, ranging from 5% to 32% and the risk factors are not well known. We aim to investigate the incidence and risk factors of PI-IBS in enteritis patients admitted to university hospitals in Korea. Methods: This multi-center prospective study was conducted in patients hospitalized for infectious enteritis. Each patient underwent 1 outpatient visit and 3 telephone surveys during the first year after discharge to determine if PI-IBS occurred within the follow-up period. Results: In the 3-month survey, 7 out of 354 patients (2%) were diagnosed with PI-IBS, and after 1 year, only 1 patient met the criteria for IBS.No statistically significant difference was found between the PI-IBS group and the non-PI-IBS group in terms of age, sex, underlying diseases, medication history, gastrointestinal symptoms, enteritis location, causative strain, hospitalization and treatment periods, and laboratory findings. Female sex (P = 0.003), enteropathogenic Escherichia coli (EPEC) infection (P = 0.044), and a longer total treatment period (P = 0.018) were independent risk factors for diarrhea lasting ≥ 3 months after enteritis. Conclusions The incidence of PI-IBS in Korea was relatively low, and most cases improved over time. No risk factors associated with the development of PI-IBS were found. However, persistent diarrhea after enteritis was associated with female sex, EPEC infection, and severe or long-lasting enteritis. IBS symptoms may persist after severe enteritis but usually improve with time.

Background: and Purpose: Amyloid-beta (Aβ) plaques are key in Alzheimer’s disease (AD), with Aβ positron emission tomography imaging enabling non-invasive quantification.To address regional Aβ deposition, we developed regional Centiloid scales (rdcCL) and commercialized them through the computed tomography (CT)-based BeauBrain Amylo platform, eliminating the need for three-dimensional T1 magnetic resonance imaging (MRI). Objective: We aimed to establish robust regional Aβ cutoffs using the commercialized BeauBrain Amylo platform and to explore the prevalence of subgroups defined by global, regional, and striatal Aβ cutoffs across cognitive stages. Methods: We included 2,428 individuals recruited from the Korea-Registries to Overcome Dementia and Accelerate Dementia Research project. We calculated regional Aβ cutoffs using Gaussian Mixture Modeling. Participants were classified into subgroups based on global, regional, and striatal Aβ positivity across cognitive stages (cognitively unimpaired [CU], mild cognitive impairment, and dementia of the Alzheimer’s type). Results: MRI-based and CT-based global Aβ cutoffs were highly comparable and consistent with previously reported Centiloid values. Regional cutoffs revealed both similarities and differences between MRI- and CT-based methods, reflecting modality-specific segmentation processes. Subgroups such as global(−)regional(+) were more frequent in non-dementia stages, while global(+)striatal(−) was primarily observed in CU individuals. Conclusions Our study established robust regional Aβ cutoffs using a CT-based rdcCL method and demonstrated its clinical utility in classifying amyloid subgroups across cognitive stages. These findings highlight the importance of regional Aβ quantification in understanding amyloid pathology and its implications for biomarker-guided diagnosis and treatment in AD.