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.Nationwide Trends in Coronary Artery Bypass Grafting in the Republic of Korea, 2005–2022: A Comparison with International Data
Min Ho JU ; Jun Ho LEE ; Yun Jin KIM ; Ho Jin KIM ; Ho Young HWANG ; Sang Yoon YEOM ; Hee Jung KIM ; Young-Nam YOUN ; Wook Sung KIM ; Man-Jong BAEK ; Hyun Keun CHEE ;
Journal of Chest Surgery 2026;59(1):7-16
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.
3.Validation of the Korean version of defense and veterans pain rating scale for assessment of postoperative pain: a prospective observational cohort study
Seungeun CHOI ; Taeyup KIM ; Hae Kyeong YOO ; Sang-Youn PARK ; Soo-Hyuk YOON ; Ho-Jin LEE
The Korean Journal of Pain 2025;38(1):58-68
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.
4.Validation of the Korean version of defense and veterans pain rating scale for assessment of postoperative pain: a prospective observational cohort study
Seungeun CHOI ; Taeyup KIM ; Hae Kyeong YOO ; Sang-Youn PARK ; Soo-Hyuk YOON ; Ho-Jin LEE
The Korean Journal of Pain 2025;38(1):58-68
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.
5.Prognostic Value of Ambulatory Status at Transplant in Older Heart Transplant Recipients: Implications for Organ Allocation Policy
Junho HYUN ; Jong-Chan YOUN ; Jung Ae HONG ; Darae KIM ; Jae-Joong KIM ; Myoung Soo KIM ; Jaewon OH ; Jin-Jin KIM ; Mi-Hyang JUNG ; In-Cheol KIM ; Sang-Eun LEE ; Jin Joo PARK ; Min-Seok KIM ; Sung-Ho JUNG ; Hyun-Jai CHO ; Hae-Young LEE ; Seok-Min KANG ; Dong-Ju CHOI ; Jon A. KOBASHIGAWA ; Josef STEHLIK ; Jin-Oh CHOI
Journal of Korean Medical Science 2025;40(3):e14-
Background:
Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort.
Methods:
We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation.
Results:
Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465).
Conclusion
Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.
6.Validation of the Korean version of defense and veterans pain rating scale for assessment of postoperative pain: a prospective observational cohort study
Seungeun CHOI ; Taeyup KIM ; Hae Kyeong YOO ; Sang-Youn PARK ; Soo-Hyuk YOON ; Ho-Jin LEE
The Korean Journal of Pain 2025;38(1):58-68
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.
7.Validation of the Korean version of defense and veterans pain rating scale for assessment of postoperative pain: a prospective observational cohort study
Seungeun CHOI ; Taeyup KIM ; Hae Kyeong YOO ; Sang-Youn PARK ; Soo-Hyuk YOON ; Ho-Jin LEE
The Korean Journal of Pain 2025;38(1):58-68
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.
8.Validation of the Korean version of defense and veterans pain rating scale for assessment of postoperative pain: a prospective observational cohort study
Seungeun CHOI ; Taeyup KIM ; Hae Kyeong YOO ; Sang-Youn PARK ; Soo-Hyuk YOON ; Ho-Jin LEE
The Korean Journal of Pain 2025;38(1):58-68
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.
9.Prognostic Value of Ambulatory Status at Transplant in Older Heart Transplant Recipients: Implications for Organ Allocation Policy
Junho HYUN ; Jong-Chan YOUN ; Jung Ae HONG ; Darae KIM ; Jae-Joong KIM ; Myoung Soo KIM ; Jaewon OH ; Jin-Jin KIM ; Mi-Hyang JUNG ; In-Cheol KIM ; Sang-Eun LEE ; Jin Joo PARK ; Min-Seok KIM ; Sung-Ho JUNG ; Hyun-Jai CHO ; Hae-Young LEE ; Seok-Min KANG ; Dong-Ju CHOI ; Jon A. KOBASHIGAWA ; Josef STEHLIK ; Jin-Oh CHOI
Journal of Korean Medical Science 2025;40(3):e14-
Background:
Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort.
Methods:
We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation.
Results:
Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465).
Conclusion
Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.
10.Prognostic Value of Ambulatory Status at Transplant in Older Heart Transplant Recipients: Implications for Organ Allocation Policy
Junho HYUN ; Jong-Chan YOUN ; Jung Ae HONG ; Darae KIM ; Jae-Joong KIM ; Myoung Soo KIM ; Jaewon OH ; Jin-Jin KIM ; Mi-Hyang JUNG ; In-Cheol KIM ; Sang-Eun LEE ; Jin Joo PARK ; Min-Seok KIM ; Sung-Ho JUNG ; Hyun-Jai CHO ; Hae-Young LEE ; Seok-Min KANG ; Dong-Ju CHOI ; Jon A. KOBASHIGAWA ; Josef STEHLIK ; Jin-Oh CHOI
Journal of Korean Medical Science 2025;40(3):e14-
Background:
Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort.
Methods:
We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation.
Results:
Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465).
Conclusion
Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.

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