1.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
2.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
3.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.
4.Reliability and Validity of the Martin Vigorimeter for Grip Strength Measurement in Korean Adults
Jeong Kil LEE ; Meesun JUNG ; Han Byul LEE ; Hyung Jin CHUNG ; Seung Hoo LEE
Clinics in Orthopedic Surgery 2024;16(4):610-619
Background:
Grip strength is important for fine motor skills, and one of the measurement tools for grip strength is the Martin Vigorimeter (MV) dynamometer. Studies on establishing the reliability and validity of the MV in Koreans are limited. We aimed to establish the reliability and validity of the MV for grip strength measurement in healthy Korean adults by comparing it with the Jamar dynamometer, the standard tool used by the American Society of Hand Therapists.
Methods:
In total, 99 healthy participants (50 men and 49 women) were enrolled. Grip strength was measured using the Jamar dynamometer and MV. Reliability and validity were assessed using the intraclass correlation coefficient (ICC) and minimal detectable change (MDC). The correlation between the measurements of the instruments was analyzed using Pearson’s correlation. The effect of hand anthropometry was evaluated, and the conversion equation between the instruments was calculated.
Results:
MV showed excellent reliability (ICC > 0.90, p < 0.001) and validity with a high correlation (0.7 ≤ r < 0.9) with the Jamar dynamometer. The MDC was acceptable for detecting minimal clinically important differences (< 19.5%) in both instruments (Jamar:3.4%–6.7%, MV: 3.8% to 6.3%). The grip strength measured using the MV was independent of hand anthropometry, unlike that using the Jamar dynamometer.
Conclusions
This study provides insights into the relationship between the Jamar and MV instruments for measuring grip strength in Koreans. The MV is a viable alternative to the Jamar dynamometer in Koreans, offering not only reproducible and reliable measurements of grip strength but also the advantage of being unaffected by variations in hand anthropometry.
5.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
6.Comparative analysis of recurrence rates between intravesical gemcitabine and bacillus Calmette–Guérin induction therapy following transurethral resection of bladder tumors in patients with intermediate- and high-risk bladder cancer: A retrospective multicenter study
Joongwon CHOI ; Kyung Hwan KIM ; Hyung Suk KIM ; Hyun Sik YOON ; Jung Hoon KIM ; Jin Wook KIM ; Yong Seong LEE ; Se Young CHOI ; In Ho CHANG ; Young Hwii KO ; Wan SONG ; Byong Chang JEONG ; Jong Kil NAM
Investigative and Clinical Urology 2024;65(3):248-255
Purpose:
This study investigated the efficacy of intravesical gemcitabine as an alternative to bacillus Calmette–Guérin (BCG) therapy.
Materials and Methods:
Data were retrospectively collected across seven institutions from February 1999 to May 2023. Inclusion criteria included patients with intermediate- or high-risk non-muscle invasive bladder cancer (NMIBC) who underwent transurethral resection of bladder tumors (TURBT) and received at least four sessions of intravesical gemcitabine or BCG induction therapy. Patient characteristics, complete remission (CR), occurrence, and progression rates were compared.
Results:
In total, 149 patients were included in this study (gemcitabine, 63; BCG, 86). No differences were apparent between the two groups in baseline characteristics, except for the follow-up period (gemcitabine, 9.2±5.9 months vs. BCG, 43.9±41.4 months, p<0.001). There were no consistent significant differences observed between the two groups in the 3-month (gemcitabine, 98.4% vs. BCG, 95.3%; p=0.848), 6-month (94.9% vs. 90.0%, respectively; p=0.793) and 1-year CR rates (84.2% vs. 83.3%, respectively;p=0.950). Also, there was no significant statistical difference in progression-free survival between the two groups (p=0.953). The occurrence rates of adverse events were similar between the groups (22.2% vs. 22.1%; p=0.989); however, the rate of Clavien– Dindo grade 2 or higher was significantly higher in the BCG group (1.6% vs. 16.3%, respectively; p<0.001).
Conclusions
Intravesical gemcitabine demonstrated efficacy comparable to BCG therapy for the first year in patients with intermediate- and high-risk NMIBC. However, long-term follow-up studies are warranted.
7.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
8.TNM-Based Head-to-Head Comparison of Urachal Carcinoma and Urothelial Bladder Cancer: Stage-Matched Analysis of a Large Multicenter National Cohort
Sang Hun SONG ; Jaewon LEE ; Young Hwii KO ; Jong Wook KIM ; Seung Il JUNG ; Seok Ho KANG ; Jinsung PARK ; Ho Kyung SEO ; Hyung Joon KIM ; Byong Chang JEONG ; Tae-Hwan KIM ; Se Young CHOI ; Jong Kil NAM ; Ja Yoon KU ; Kwan Joong JOO ; Won Sik JANG ; Young Eun YOON ; Seok Joong YUN ; Sung-Hoo HONG ; Jong Jin OH
Cancer Research and Treatment 2023;55(4):1337-1345
Purpose:
Outcome analysis of urachal cancer (UraC) is limited due to the scarcity of cases and different staging methods compared to urothelial bladder cancer (UroBC). We attempted to assess survival outcomes of UraC and compare to UroBC after stage-matched analyses.
Materials and Methods:
Total 203 UraC patients from a multicenter database and 373 UroBC patients in single institution from 2000 to 2018 were enrolled (median follow-up, 32 months). Sheldon stage conversion to corresponding TNM staging for UraC was conducted for head-to-head comparison to UroBC. Perioperative clinical variables and pathological results were recorded. Stage-matched analyses for survival by stage were conducted.
Results:
UraC patients were younger (mean age, 54 vs. 67 years; p < 0.001), with 163 patients (80.3%) receiving partial cystectomy and 23 patients (11.3%) radical cystectomy. UraC was more likely to harbor ≥ pT3a tumors (78.8% vs. 41.8%). While 5-year recurrence-free survival, cancer-specific survival (CSS) and overall survival were comparable between two groups (63.4%, 67%, and 62.1% in UraC and 61.5%, 75.9%, and 67.8% in UroBC, respectively), generally favorable prognosis for UraC in lower stages (pT1-2) but unfavorable outcomes in higher stages (pT4) compared to UroBC was observed, although only 5-year CSS in ≥ pT4 showed statistical significance (p=0.028). Body mass index (hazard ratio [HR], 0.929), diabetes mellitus (HR, 1.921), pathologic T category (HR, 3.846), and lymphovascular invasion (HR, 1.993) were predictors of CSS for all patients.
Conclusion
Despite differing histology, UraC has comparable prognosis to UroBC with relatively favorable outcome in low stages but worse prognosis in higher stages. The presented system may be useful for future grading and risk stratification of UraC.
9.Korean Guidelines for Postpolypectomy Colonoscopic Surveillance: 2022 revised edition
Su Young KIM ; Min Seob KWAK ; Soon Man YOON ; Yunho JUNG ; Jong Wook KIM ; Sun-Jin BOO ; Eun Hye OH ; Seong Ran JEON ; Seung-Joo NAM ; Seon-Young PARK ; Soo-Kyung PARK ; Jaeyoung CHUN ; Dong Hoon BAEK ; Mi-Young CHOI ; Suyeon PARK ; Jeong-Sik BYEON ; Hyung Kil KIM ; Joo Young CHO ; Moon Sung LEE ; Oh Young LEE ; ; ;
Intestinal Research 2023;21(1):20-42
Colonoscopic polypectomy is effective in decreasing the incidence and mortality of colorectal cancer (CRC). Premalignant polyps discovered during colonoscopy are associated with the risk of metachronous advanced neoplasia. Postpolypectomy surveillance is the most important method for managing advanced metachronous neoplasia. A more efficient and evidence-based guideline for postpolypectomy surveillance is required because of the limited medical resources and concerns regarding colonoscopy complications. In these consensus guidelines, an analytic approach was used to address all reliable evidence to interpret the predictors of CRC or advanced neoplasia during surveillance colonoscopy. The key recommendations state that the high-risk findings for metachronous CRC following polypectomy are as follows: adenoma ≥10 mm in size; 3 to 5 (or more) adenomas; tubulovillous or villous adenoma; adenoma containing high-grade dysplasia; traditional serrated adenoma; sessile serrated lesion containing any grade of dysplasia; serrated polyp of at least 10 mm in size; and 3 to 5 (or more) sessile serrated lesions. More studies are needed to fully comprehend the patients who are most likely to benefit from surveillance colonoscopy and the ideal surveillance interval to prevent metachronous CRC.
10.Current status of imaging studies and application of clinical decision rules for pediatric blunt cervical spine injury
Kwang Hee KO ; Hyun Jung LEE ; Hyun Joon KIM ; Tae Yong SHIN ; Dong Wook LEE ; Hyung Jun MOON ; Dong Kil JEONG
Pediatric Emergency Medicine Journal 2023;10(2):60-67
Purpose:
We investigated the current status of imaging studies for pediatric blunt cervical spine injury, and applied 3 clinical decision rules to children with blunt trauma of the head or neck in a pediatric emergency center in Korea. The rules included National Emergency X-Radiography Utilization Study (NEXUS) criteria, Canadian Cervical Spine Rule, and Pediatric Emergency Care Applied Research Network risk factors.
Methods:
This was a retrospective study conducted on 399 children aged 15 years or younger who visited the center after the blunt trauma, and underwent cervical spine radiographs from January 2020 through December 2021. We examined the clinical characteristics per age groups (0-1, 2-5, 6-12, and 13-15 years). Using the 3 rules, we selected children with a potential need for imaging studies (PNI). For this purpose, we analyzed the absence of low-risk variables and the presence of high-risk variables. Predictive performances of the rules were measured for the imaging-confirmed cervical spine injury.
Results:
The study population (n = 399) had a median age of 5.0 years (interquartile range, 2.0-9.0) and a 64.2% boys’ proportion. Fall (36.6%) was the most common injury mechanism. Two children had the cervical spine injuries. As per NEXUS criteria, Canadian Cervical Spine Rule, and Pediatric Emergency Care Applied Research Network risk factors, 72 (18.0%), 289 (72.4%), and 74 children (18.5%) were classified as those with PNI, respectively. Resultantly, 291 children (72.9%) were classified as having PNI whereas the other 108 (27.1%) were deemed to undergo unnecessary imaging. The 3 rules had nearly 100% sensitivity and negative predictive value, except a 50% sensitivity of NEXUS criteria.
Conclusion
Imaging studies can be minimized for children with blunt trauma of the head or neck who are deemed without PNI per the 3 current clinical decision rules. More elaborate criteria are needed to make a timely diagnosis.

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