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: As the coronavirus disease 2019 (COVID-19) pandemic has been prolonged, the pre-hospital screening test performed in hospitals has changed from polymerase chain reaction (PCR) to rapid antigen test (RAT). RAT has lower sensitivity than PCR, but a lower cost and shorter test time. In the hospital where this study was conducted, the preadmission COVID-19 test was changed from PCR to RAT on February 24, 2023. This study compared the efficacy of PCR and RAT as the pre-admission COVID-19 test. Methods: This was a retrospective observational study comparing two periods, 90 days from November 25, 2022 to February 23, 2023, and 90 days from February 28, 2023 to May 29, 2023. Patients hospitalized from the emergency medical center during these two periods were included. Binomial logistic regression was used to compare the emergency department length of stay (ED LOS) between the two groups (PCR vs. RAT). Logistic regression was used to compare the mortality. Results: Four thousand seven hundred and thirty-eight patients were admitted through the emergency room: 2,202 patients in the PCR group and 2,443 patients in the RAT group. No statistically significant differences in the characteristics and severity were observed between the two groups. The mean ED LOS of PCR 5.07 hours (interquartile range, 3.80-6.75) was longer than RAT 3.65 hours (interquartile range, 2.83-4.68) (P<0.001). Mortality was higher in PCR 8.9% than RAT 6.6% (P=0.005). Conclusion The study showed that ED LOS and mortality were reduced when using RAT rather than PCR as a preadmission COVID-19 test.

Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients’ values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.

PURPOSE: This study aimed to evaluate the clinical performance of implant-assisted removable partial dentures (IARPD) with surveyed crowns, also known as implant-crown-retained removable partial dentures (ICRPDs). MATERIALS AND METHODS: Electronic searches of MEDLINE/PubMed, the Cochrane Central Register of Controlled Trials, the Web of Science, and the Korea Citation Index were performed according to the established search terms for ICRPD. A literature search was conducted for studies published in English or Korean until September 2023, using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines. RESULTS: A total of 216 journals were searched, and 31 eligible studies were selected based on the inclusion and exclusion criteria. One systematic review included five case reports of ICRPD. Nine retrospective studies evaluated implant survival/success rate, implant failure cases, marginal bone loss, periodontal status, clinical complications, and patient satisfaction. Twenty-one case reports published in Korea showed good prognoses. CONCLUSION According to the findings of this systematic review, ICRPD has a reasonable survival/success rate, minimal bone loss, and high patient satisfaction.

Objective: : The association between boule (BOLL) and endothelin receptor type A (EDNRA) loci and intracranial aneurysm (IA) formation has been reported via genome-wide association studies. We sought to identify genome-wide interactions involving BOLL and EDNRA loci for IA in a Korean adult cohort. Methods: : Genome-wide pairwise interaction analyses of BOLL and EDNRA involving 250 patients with IA and 296 controls were performed using the additive effect model after adjusting for confounding factors. Results: : Among 512575 single-nucleotide polymorphisms (SNPs), 23 and 11 common SNPs suggested a genome-wide interaction threshold (p<1.25×10-8) involving rs700651 (BOLL) and rs6841581 (EDNRA). Rather than singe SNP effect of BOLL or EDNRA on IA development, they showed a synergistic effect on IA formation via multifactorial pair-wise interactions. The rs1105980 of PTCH1 gene showed the most significant interaction with rs700651 (natural log-transformed odds ratio [lnOR], 1.53; p=6.41×10-11). The rs74585958 of RYK gene interacted strongly with rs6841581 (lnOR, -19.91; p=1.64×10-9). Although, there was no direct interaction between BOLL and EDNRA variants, two EDNRA-interacting gene variants of TNIK (rs11925024 and rs1231) and FTO (rs9302654), and one BOLL-interacting METTL4 gene variant (rs549315) exhibited marginal interaction with BOLL gene. Conclusion : BOLL or EDNRA may have a synergistic effect on IA formation via multifactorial pair-wise interactions.

Objective: This study aimed to examine how marital status, occupational status, and individual personality influence suicidal ideation and suicide attempts among Korean middle-aged adults, and explore the effects of their interaction. Methods: A total of 2,464 middle-aged adults were surveyed about suicidality in the past year (1-year suicidality). Participants’ current marital and occupational status, including other demographic and clinical variables were investigated. Personality traits were assessed using the Big Five Inventory. The dependent variable was the presence of 1-year suicidality. Independent variables were current marital and occupational status. Generalized linear model (GLM) analysis was performed to adjust for other covariates. Results: The group with 1-year suicidality had significantly lower income. It had a lower proportion of full-time employment, and higher percentages of part-time employment and unemployment. The GLM analysis results showed that marital and occupational status had no significant association with 1-year suicidality. Neuroticism and openness were positively associated with 1-year suicidality, whereas conscientiousness and extraversion had a negative association. Interactions between marital status and neuroticism, conscientiousness, and occupational status were significant. Conclusion Individualized social and psychological interventions for suicide prevention are required according to individual personality traits.

Background/Aims: A comprehensive analysis of trends in the incidence of hepatocellular carcinoma (HCC) is important for planning public health initiatives. We aimed to analyze the trends in HCC incidence in South Korea over 10 years and to predict the incidence for the year 2028. Methods: Data from patients with newly diagnosed HCC between 2008 and 2018 were obtained from Korean National Health Insurance Service database. Age-standardized incidence rates (ASRs) were calculated to compare HCC incidence. A poisson regression model was used to predict the future incidence of HCC. Results: The average crude incidence rate (CR) was 22.4 per 100,000 person-years, and the average ASR was 17.6 per 100,000 person-years between 2008 and 2018. The CR (from 23.9 to 21.2 per 100,000 person-years) and ASR (from 21.9 to 14.3 per 100,000 person-years) of HCC incidence decreased during the past ten years in all age groups, except in the elderly. The ASR of patients aged ≥80 years increased significantly (from 70.0 to 160.2/100,000 person-years; average annual percent change, +9.00%; P<0.001). The estimated CR (17.9 per 100,000 person-years) and ASR (9.7 per 100,000 person-years) of HCC incidence in 2028 was declined, but the number of HCC patients aged ≥80 years in 2028 will be quadruple greater than the number of HCC patients in 2008 (from 521 to 2,055), comprising 21.3% of all HCC patients in 2028. Conclusions The ASRs of HCC in Korea have gradually declined over the past 10 years, but the number, CR, and ASR are increasing in patients aged ≥80 years.

Objective: Early identification of COVID-19 in patients is important to prevent significant worsening of the disease. This study was undertaken to verify whether MEWS (Modified Early Warning Score), NEWS(National Early Warning Score), ROX index, and CURB-65, which are early diagnostic tools for severe respiratory diseases, could be applied to patients visiting the emergency room for COVID-19. Methods: This retrospective observational study included patients who visited an emergency medical center from September 1 to October 31, 2020, and from January 1 to February 28, 2021. Based on the vital signs and blood tests during the emergency room visit, severity evaluation tools and early diagnostic tools for severe cases were used and compared according to their area under the curve (AUC) values. The primary outcome was in-hospital mortality, while the secondary outcomes were intensive care unit admission rate and the need for mechanical ventilation based on these four tools (MEWS, NEWS, ROX index, and CURB-65). Results: A total of 667 patients were analyzed. No significant difference was determined between the non-survivor group and survivor group in the MEWS values (P=0.13), but statistically significant differences were observed for NEWS (5 vs. 1, P<0.05), CURB-65 (2 vs. 1, P<0.05), and ROX index (16.61 vs. 23.1, P<0.01). The AUC value of NEWS for death prediction indicated a good predictive power at 0.80, while that of MEWS showed a low predictive power at 0.57, which was statistically significant. Moreover, the AUC values of CURB-65 and ROX index did not differ significantly from values obtained for NEWS. Conclusion As early diagnostic tools for predicting death in COVID-19 patients, NEWS, ROX index, and CURB-65 showed excellent discrimination ability, whereas MEWS showed statistically and significantly lower discrimination ability.

Objective: Mental health is a global concern and needs to be studied more closely. We aimed to estimate the prevalence of mental disorders and their associated factors among the general population in Korea. Methods: The National Mental Health Survey of Korea 2021 was conducted between June 19 and August 31, 2021 and included 13,530 households; 5,511 participants completed the interview (response rate: 40.7%). The lifetime and 12-month diagnosis rates of mental disorders were made using the Korean version of the Composite International Diagnostic Interview 2.1. Factors associated with alcohol use disorder (AUD), nicotine use disorder, depressive disorder, and anxiety disorder were analyzed, and mental health service utilization rates were estimated. Results: The lifetime prevalence of mental disorders was 27.8%. The 12-month prevalence rates of alcohol use, nicotine use, depressive, and anxiety disorders were 2.6%, 2.7%, 1.7%, and 3.1%, respectively. The risk factors associated with 12-month diagnosis rates were as follows: AUD: sex and age; nicotine use disorder: sex; depressive disorder: marital status and job status; anxiety disorder: sex, marital status, and job status. The 12-month treatment and service utilization rates for 12-month AUD, nicotine use disorder, depressive disorder, and anxiety disorder were 2.6%, 1.1%, 28.2%, and 9.1%, respectively. Conclusion Approximately 25% of adults in the general population were diagnosed with mental disorders during their lifetime. The treatment rates were substantially low. Future studies on this topic and efforts to increase the mental health treatment rate at a national level are needed.

Background: This study investigates the long-term efficacy and safety of evogliptin add-on therapy in patients with inadequately controlled type 2 diabetes mellitus (T2DM) previously received dapagliflozin and metformin (DAPA/MET) combination. Methods: In this multicenter randomized placebo-controlled phase 3 trial, patients with glycosylated hemoglobin (HbA1c) levels 7.0% to 10.5% (n=283) previously used DAPA 10 mg plus MET (≥1,000 mg) were randomly assigned to the evogliptin 5 mg once daily or placebo group (1:1). The primary endpoint was the difference in the HbA1c level from baseline at week 24, and exploratory endpoints included the efficacy and safety of evogliptin over 52 weeks (trial registration: ClinicalTrials.gov NCT04170998). Results: Evogliptin add-on to DAPA/MET therapy was superior in HbA1c reduction compared to placebo at weeks 24 and 52 (least square [LS] mean difference, –0.65% and –0.55%; 95% confidence interval [CI], –0.79 to –0.51 and –0.71 to –0.39; P<0.0001). The proportion of patients achieving HbA1c <7% was higher in the triple combination group at week 52 (32.14% vs. 8.51% in placebo; odds ratio, 5.62; P<0.0001). Evogliptin significantly reduced the fasting glucose levels and mean daily glucose levels with improvement in homeostatic model assessment of β-cell function (LS mean difference, 9.04; 95% CI, 1.86 to 16.21; P=0.0138). Adverse events were similar between the groups, and no serious adverse drug reactions were reported in the evogliptin group. Conclusion Long-term triple combination with evogliptin added to DAPA/MET showed superior HbA1c reduction and glycemic control compared to placebo at 52 weeks and was well tolerated.