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.

Background: Programmed cell death 1/programmed cell death ligand 1 (PD-1/PD-L1) inhibitors are effective treatments for non-small cell lung cancer (NSCLC), but their use can lead to severe pneumonitis. This study aims to evaluate the utility of Krebs von den Lungen-6 (KL-6) for predicting and diagnosing PD-1/PD-L1 inhibitor-related pneumonitis in NSCLC patients. Methods: We conducted a prospective observational study at a university-affiliated tertiary hospital in Korea from February 2022 to June 2023. Baseline KL-6 levels were measured immediately before initiating PD-1/PD-L1 inhibitor therapy. In patients who developed pneumonitis, KL-6 levels were monitored every 1–2 weeks from the onset of pneumonitis. For patients without pneumonitis, KL-6 levels were measured every 6 weeks. We compared clinical characteristics and serial KL-6 levels between the pneumonitis and non-pneumonitis groups. Results: Eighteen patients were enrolled, with 11 developing pneumonitis. Baseline KL-6 levels did not significantly differ between the two groups (261 U/mL in the pneumonitis group vs. 373 U/mL in the non-pneumonitis group, p=0.375). In the pneumonitis group, KL-6 levels generally showed an upward trend, with a median of 412 U/mL at pneumonitis onset. Conversely, KL-6 levels in the non-pneumonitis group showed no clear overall change. Conclusion In this pilot study, baseline KL-6 was not clearly linked to PD-1/PD-L1 inhibitor-related pneumonitis in NSCLC patients. However, increases in KL-6 levels post-baseline were more frequently observed in patients who developed pneumonitis, including cases of all-cause pneumonitis.

Coronary artery bypass grafting (CABG) remains a key revascularization strategy for ischemic heart disease; however, nationwide trends in the Republic of Korea have not been thoroughly investigated. Using data from the Korean National Health Insurance Service, we analyzed adult patients who underwent isolated CABG between 2005 and 2022. We evaluated surgical volume, patient demographics, procedural strategies (off-pump vs. onpump), and outcomes. International comparisons were conducted using national cardiac surgery registry data. A total of 51,923 CABG cases were identified. Annual surgical volume declined until 2013 but gradually increased thereafter, reaching 3,717 cases in 2022. Despite this recovery, Korea’s per capita CABG rate remains among the lowest worldwide.In contrast, more than 60% of procedures were performed off-pump—the highest rate worldwide. Over time, the average patient age and prevalence of diabetes increased, whereas in-hospital mortality showed a modest decline. Compared with other countries, the Republic of Korea demonstrated a uniquely low procedural volume and a strong preference for off-pump CABG. This nationwide analysis highlights Korea’s distinctive CABG practice patterns and provides valuable insights for optimizing future clinical and policy decisions in cardiac surgical care.

Endometriosis, a prevalent but debilitating condition affecting women, poses significant challenges in diagnosis and management. The current 2024 guideline, developed by the Korean Society of Endometriosis (KSE), builds upon the 2018 KSE guideline. This guideline aims to provide customized recommendations tailored to Korea’s unique clinical aspects and medical environment, and addresses key areas such as diagnosis, medical and surgical management, considerations for special populations, and its complex relationship with cancer.

Primary cholangiocarcinoma is a rare bile duct epithelial neoplasm that can present with atypical clinical manifestations, complicating its diagnosis. A 62-year-old male showed symptoms suggestive of a complicated hepatic cyst that was later identified as intrahepatic cholangiocarcinoma. The patient presented with abdominal discomfort without fever. Imaging revealed a large cystic lesion in the liver. Despite the initial treatment for a presumed abscess, a biopsy confirmed cholangiocarcinoma. This case highlights the diagnostic challenge of distinguishing between benign complicated hepatic cysts and malignancies, particularly when typical markers of infection are absent. Early biopsy and vigilant assessments are crucial in such presentations to avoid a delayed diagnosis and initiate appropriate treatment.

Hepatic tuberculosis, typically associated with miliary tuberculosis, can occasionally present as localized liver lesions. This case report describes a 77-year-old male presenting with persistent abdominal pain and fever, following an endoscopic retrograde cholangiopancreatography for bile duct sludge removal. Subsequent computed tomography revealed focal liver lesions. Despite initial treatment with antibiotics for a suspected inflammatory liver abscess, his condition did not improve. A liver biopsy was performed, revealing caseous granulomas, and the tuberculosis polymerase chain reaction result was positive. The patient was diagnosed with primary hepatic tuberculosis, which later disseminated. Oral anti-tuberculosis therapy was initiated and is currently being closely monitored. This case emphasizes the importance of considering hepatic tuberculosis in the differential diagnosis of liver lesions, particularly in cases involving cholestatic liver function tests, and persistent symptoms unresponsive to conventional antibiotics.

Background: The defense and veterans pain rating scale (DVPRS) is a pain assessment tool combining a numerical rating scale (NRS) with descriptive words, colors, and facial expressions. This study aimed to validate the Korean version of the DVPRS (K-DVPRS) for postoperative pain assessment. Methods: This study included patients who underwent elective laparoscopic or robotic abdominal surgery. The original DVPRS was translated into Korean using a forward-backward method. Pain intensities at rest and during coughing were assessed at 24 and 48 hours postoperatively using the NRS and K-DVPRS, respectively. The EuroQol 5-Dimension 5-Level (EQ-5D-5L) questionnaire was also used. The validity, reliability, and responsiveness of the K-DVPRS were evaluated. Results: Of the 174 patients screened, 150 were enrolled, and 148 completed the study. The K-DVPRS had strong convergent validity with the NRS at 24 and 48 hours postoperatively (ρ: 0.75 to 0.78, all P < 0.001). Construct validity was confirmed by significant differences in pain scores based on surgical extent and duration. The internal consistency was acceptable (Cronbach’s alpha: 0.77 and 0.85 at 24 and 48 hours, respectively), and test-retest reliability at 24 hours was excellent (intraclass correlation coefficient: 0.90 at rest and 0.95 during coughing).Responsiveness, measured by Cliff’s effect size, was high from preoperative to 24 hours postoperatively and moderate from 24 to 48 hours. At 48 hours, the K-DVPRS had stronger correlations with the EQ-5D-5L index and EQVAS than with the NRS. Conclusions The K-DVPRS is a valid, reliable, and responsive tool for assessing postoperative pain in Korean patients.

Background and Objectives: Electronic cigarette (e-cigarette) is a device that generate vapor by heating e-cigarettes liquid. E-cigarette damages the respiratory immune system and renders the respiratory tract vulnerable to inflammations. However, there are no studies on how the inflammatory reactions in respiratory epithelial cells caused by e-cigarette occur, and the effects of Korean red ginseng (KRG) and saponin on inflammation induced by e-cigarette are unknown. This study aimed to compare the inflammatory reactions caused by e-cigarette and lipopolysaccharide (LPS), and to investigate the effects of KRG and saponin on cytokine and mucin expression induced by e-cigarette in respiratory epithelial cells.Subjects and Method In bronchoalveolar lavage fluid and lung tissue of mice, the effects of KRG and saponin on cytokines (interleukin [IL]-1β, IL-6, IL-8) and mucin 5AC/5B (MUC5AC/5B) expression induced by e-cigarette were investigated using real-time polymerase chain reaction, enzyme linked immunosorbent assay, and immunohistochemistry staining. Results: Inflammatory cells, cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B messenger RNA expression and protein production were increased by e-cigarette, similar to LPS. KRG and saponin decreased the expression of cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B induced by e-cigarette. KRG and saponin showed effects similar to that of dexamethasone. Conclusion E-cigarette causes inflammation similar to that caused by LPS. KRG and saponin regulate the expression of cytokine and MUC5AC/5B increased by e-cigarette in respiratory epithelial cells. KRG and saponin may be an effective therapeutic option for inflammatory responses induced by e-cigarette in respiratory epithelial cells.

Background: The defense and veterans pain rating scale (DVPRS) is a pain assessment tool combining a numerical rating scale (NRS) with descriptive words, colors, and facial expressions. This study aimed to validate the Korean version of the DVPRS (K-DVPRS) for postoperative pain assessment. Methods: This study included patients who underwent elective laparoscopic or robotic abdominal surgery. The original DVPRS was translated into Korean using a forward-backward method. Pain intensities at rest and during coughing were assessed at 24 and 48 hours postoperatively using the NRS and K-DVPRS, respectively. The EuroQol 5-Dimension 5-Level (EQ-5D-5L) questionnaire was also used. The validity, reliability, and responsiveness of the K-DVPRS were evaluated. Results: Of the 174 patients screened, 150 were enrolled, and 148 completed the study. The K-DVPRS had strong convergent validity with the NRS at 24 and 48 hours postoperatively (ρ: 0.75 to 0.78, all P < 0.001). Construct validity was confirmed by significant differences in pain scores based on surgical extent and duration. The internal consistency was acceptable (Cronbach’s alpha: 0.77 and 0.85 at 24 and 48 hours, respectively), and test-retest reliability at 24 hours was excellent (intraclass correlation coefficient: 0.90 at rest and 0.95 during coughing).Responsiveness, measured by Cliff’s effect size, was high from preoperative to 24 hours postoperatively and moderate from 24 to 48 hours. At 48 hours, the K-DVPRS had stronger correlations with the EQ-5D-5L index and EQVAS than with the NRS. Conclusions The K-DVPRS is a valid, reliable, and responsive tool for assessing postoperative pain in Korean patients.

Background: This study aimed to identify the clinical characteristics of multidrug-resistant/ rifampicin-resistant tuberculosis (MDR/RR-TB) in the Republic of Korea. Methods: Data of notified people with tuberculosis between July 2018 and December 2021 were retrieved from the Korea Tuberculosis Cohort database. MDR/RR-TB was further categorized according to isoniazid susceptibility as follows: multidrug-resistant tuberculosis (MDR-TB), rifampicin-monoresistant tuberculosis (RMR-TB), and RR-TB if susceptibility to isoniazid was unknown. Multivariable logistic regression analysis was conducted to identify the factors associated with MDR/RR-TB. Results: Between 2018 and 2021, the proportion of MDR/RR-TB cases among all TB cases and TB cases with known drug susceptibility test results was 2.1% (502/24,447). The proportions of MDR/RR-TB and MDR-TB cases among TB cases with known drug susceptibility test results were 3.3% (502/15,071) and 1.9% (292/15,071), respectively. Among all cases of rifampicin resistance, 31.7% (159/502) were RMR-TB and 10.2% (51/502) were RR-TB. Multivariable logistic regression analyses revealed that younger age, foreigners, and prior tuberculosis history were significantly associated with MDR/ RR-TB. Conclusion Rapid identification of rifampicin resistance targeting the high-risk populations, such as younger generations, foreign-born individuals, and previously treated patients are necessary for patient-centered care.