1.Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease
Eun Pyo HONG ; Eun Jin HA ; Dong Hyuk YOUN ; Yuwhan CHUNG ; Kang Min KIM ; Sung Ho LEE ; Won-Sang CHO ; Hyun-Seung KANG ; Jin Pyeong JEON ; Jeong Eun KIM ;
Journal of Clinical Neurology 2026;22(2):160-172
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.
2.Effects of rapid antigen testing for pre-admission COVID-19 screening: a before and after study in the emergency department
Hyunwoo LEE ; Moon Hwan KWAK ; Hyun Kyung PARK ; Chang Hae PYO ; Keun Hong PARK ; Hahn Bom KIM ; Eun Mi HAM ; Jin Hyung PARK ; Dong Sun CHOI ; Jee Hyeon KIM ; Soo Bok CHOI
Journal of the Korean Society of Emergency Medicine 2025;36(6):221-231
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.
3.Clinical performance of implant-assisted removable partial dentures using implant surveyed crowns: a systematic review and meta-analysis
So-Yeun KIM ; Young-Eun CHO ; Seoung-Jin HONG ; Jung-Bo HUH ; Se-Wook PYO ; Yuseung YI ; Soo-Yeon YOO
The Journal of Advanced Prosthodontics 2024;16(4):255-266
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.
4.Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment
Hyo Seon RYU ; Hyun Jung KIM ; Woong Bae JI ; Byung Chang KIM ; Ji Hun KIM ; Sung Kyung MOON ; Sung Il KANG ; Han Deok KWAK ; Eun Sun KIM ; Chang Hyun KIM ; Tae Hyung KIM ; Gyoung Tae NOH ; Byung-Soo PARK ; Hyeung-Min PARK ; Jeong Mo BAE ; Jung Hoon BAE ; Ni Eun SEO ; Chang Hoon SONG ; Mi Sun AHN ; Jae Seon EO ; Young Chul YOON ; Joon-Kee YOON ; Kyung Ha LEE ; Kyung Hee LEE ; Kil-Yong LEE ; Myung Su LEE ; Sung Hak LEE ; Jong Min LEE ; Ji Eun LEE ; Han Hee LEE ; Myong Hoon IHN ; Je-Ho JANG ; Sun Kyung JEON ; Kum Ju CHAE ; Jin-Ho CHOI ; Dae Hee PYO ; Gi Won HA ; Kyung Su HAN ; Young Ki HONG ; Chang Won HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2024;40(2):89-113
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.
5.Hepatocellular carcinoma incidence is decreasing in Korea but increasing in the very elderly
Young Eun CHON ; Seong Yong PARK ; Han Pyo HONG ; Donghee SON ; Jonghyun LEE ; Eileen YOON ; Soon Sun KIM ; Sang Bong AHN ; Soung Won JEONG ; Dae Won JUN
Clinical and Molecular Hepatology 2023;29(1):120-134
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.
6.Usefulness of Early Warning Scores, ROX index, and CURB-65 in the prognostic evaluation of patients with COVID-19
Jincheol KO ; Jisun KIM ; Chang Hae PYO ; Hyun Kyung PARK ; Keun Hong PARK ; Hahn Bom KIM ; Eun Mi HAM ; Jin Hyung PARK ; Eungon SONG ; Saee Byel KANG ; Moon Hwan KWAK ; Dong Sun CHOI ; Jee Hyeon KIM
Journal of the Korean Society of Emergency Medicine 2023;34(1):70-78
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.
7.Prevalence of Mental Disorders and Associated Factors in Korean Adults: National Mental Health Survey of Korea 2021
Soo Jung RIM ; Bong-Jin HAHM ; Su Jeong SEONG ; Jee Eun PARK ; Sung Man CHANG ; Byung-Soo KIM ; Hyonggin AN ; Hong Jin JEON ; Jin Pyo HONG ; Subin PARK
Psychiatry Investigation 2023;20(3):262-272
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.
8.Efficacy and Safety of Evogliptin Add-on Therapy to Dapagliflozin/Metformin Combinations in Patients with Poorly Controlled Type 2 Diabetes Mellitus: A 24-Week Multicenter Randomized Placebo-Controlled Parallel-Design Phase-3 Trial with a 28-Week Extension
Jun Sung MOON ; Il Rae PARK ; Hae Jin KIM ; Choon Hee CHUNG ; Kyu Chang WON ; Kyung Ah HAN ; Cheol-Young PARK ; Jong Chul WON ; Dong Jun KIM ; Gwan Pyo KOH ; Eun Sook KIM ; Jae Myung YU ; Eun-Gyoung HONG ; Chang Beom LEE ; Kun-Ho YOON
Diabetes & Metabolism Journal 2023;47(6):808-817
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.
9.Prevalence of Loneliness and Its Association With Suicidality in the General Population: Results From a Nationwide Survey in Korea
Jimin LEE ; Sung Man CHANG ; Bong-Jin HAHM ; Jee Eun PARK ; Su Jeong SEONG ; Jin Pyo HONG ; Hong Jin JEON ; Hyonggin AN ; Byung-Soo KIM
Journal of Korean Medical Science 2023;38(36):e287-
Background:
Although it is known that a substantial proportion of the population experience loneliness, the consequence of loneliness remains unclear by countries and ages.Accordingly, this study aimed to assess the association between loneliness and suicidality in the general population of Korea.Method: A total of 5,511 Koreans aged 18–79 completed a tablet-assisted personal interview using the Korean version of the Composite International Diagnostic Interview and responded to questions about loneliness and lifetime suicidal ideation, plans, and attempts. A logistic regression analysis was used to examine the association between loneliness and suicidality.
Results:
Approximately one-third of the Korean general population reported loneliness.Being older, never married, widowed, separated, or divorced, unemployed, and having a parttime job were all significantly related to loneliness. After adjusting for sociodemographic factors, individuals with loneliness were significantly associated with increased suicidal ideation (adjusted odd ratio [aOR], 4.05; 95% confidence interval [CI], 3.36–4.88), suicidal plans (aOR, 4.91; 95% CI, 3.34–7.21), and suicidal attempts (aOR, 4.82; 95% CI, 3.03–7.66). Even after adjusting for sociodemographic factors and mental disorders, suicidality remained statistically significant. Moreover, frequent, moderate-to-severe, and long-term loneliness were all associated with increased ORs for suicidality, regardless of sociodemographic factors and mental disorders.
Conclusion
Loneliness was associated with suicidal ideation, plans, and attempts. This study lays the foundation for public health policymakers to establish early intervention and mental health care support for lonely people.
10.Updated Trans-Ethnic Meta-Analysis of Associations between Inflammation-Related Genes and Intracranial Aneurysm
Eun Pyo HONG ; Sung Min CHO ; Jong Kook RHIM ; Jeong Jin PARK ; Jun Hyong AHN ; Dong Hyuk YOUN ; Jong-Tae KIM ; Chan Hum PARK ; Younghyurk LEE ; Jin Pyeong JEON ;
Journal of Korean Neurosurgical Society 2023;66(5):525-535
Objective: : We performed an expanded multi-ethnic meta-analysis to identify associations between inflammation-related loci with intracranial aneurysm (IA) susceptibility. This meta-analysis possesses increased statistical power as it is based on the most data ever evaluated. Methods: : We searched and reviewed relevant literature through electronic search engines up to August 2022. Overall estimates were calculated under the fixed- or random-effect models using pooled odds ratio (OR) and 95% confidence intervals (CIs). Subgroup analyses were performed according to ethnicity. Results: : Our meta-analysis enrolled 15 studies and involved 3070 patients and 5528 controls including European, Asian, Hispanic, and mixed ethnic populations. Of 17 inflammation-related variants, the rs1800796 locus (interleukin [IL]-6) showed the most significant genome-wide association with IA in East-Asian populations, including 1276 IA patients and 1322 controls (OR, 0.65; 95% CI, 0.56–0.75; p=3.24×10-9) under a fixed-effect model. However, this association was not observed in the European population (OR, 1.09; 95% CI, 0.80–1.47; p=0.5929). Three other variants, rs16944 (IL-1β), rs2195940 (IL-12B), and rs1800629 (tumor necrosis factor-α) showed a statistically nominal association with IA in both the overall, as well as East-Asian populations (0.01
Conclusion
: Our updated meta-analysis with increased statistical power highlights that rs1800796 which maps on the IL-6 gene is associated with IA, and in particular confers a protective effect against occurrence of IA in the East-Asian population.

Result Analysis
Print
Save
E-mail