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.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.
4.Dental Age Estimation in Children Using Convolution Neural Network Algorithm: A Pilot Study
Byung-Yoon ROH ; Hyun-Jeong PARK ; Kyung-Ryoul KIM ; In-Soo SEO ; Yeon-Ho OH ; Ju-Heon LEE ; Chang-Un CHOI ; Yo-Seob SEO ; Ji-Won RYU ; Jong-Mo AHN
Journal of Oral Medicine and Pain 2024;49(4):118-123
Purpose:
Recently, deep learning techniques have been introduced for age estimation, with automated methods based on radiographic analysis demonstrating high accuracy. In this study, we applied convolutional neural network (CNN) techniques to the lower dentition area on orthopantomograms (OPGs) of children to develop an automated age estimation model and evaluate its accuracy for use in forensic dentistry.
Methods:
In this study, OPGs of 2,856 subjects aged 3-14 years were analyzed. The You Only Look Once (YOLO) V8 object detection technique was applied to extract the mandibular dentition area on OPGs, designating it as the region of interest (ROI). First, 200 radiographs were randomly selected, and were used to train a model for extracting the ROI. The trained model was then applied to the entire dataset. For the CNN image classification task, 80% of OPGs were allocated to the training set, while the remaining 20% were used as the test set. A transfer learning approach was employed using the ResNet50 and VGG19 backbone models, with an ensemble technique combining these models to improve performance. The mean absolute error (MAE) on the test set was used as the validation metric, and the model with the lowest MAE was selected.
Results:
In this study, the age estimation model developed using mandibular dentition region from OPGs achieved MAE and root mean squared error (RMSE) values of 0.501 and 0.742, respectively, on the test set, and MAE and RMSE values of 0.273 and 0.354, respectively, on the training set.
Conclusions
The automated age estimation model developed in this study demonstrated accuracy comparable to that of previous research and shows potential for applications in forensic investigations. Increasing the sample size and incorporating diverse deep learning techniques are expected to further enhance the accuracy of future age estimation models.
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.Newly Developed Sex-Specific Z Score Model for Coronary Artery Diameter in a Pediatric Population
Jeong Jin YU ; Hee Joung CHOI ; Hwa Jin CHO ; Sung Hye KIM ; Eun Jung CHEON ; Gi Beom KIM ; Lucy Youngmin EUN ; Se Yong JUNG ; Hyun Ok JUN ; Hyang-Ok WOO ; Sin-Ae PARK ; Soyoung YOON ; Hoon KO ; Ji-Eun BAN ; Jong-Woon CHOI ; Min Seob SONG ; Ji Whan HAN
Journal of Korean Medical Science 2024;39(16):e144-
Background:
This study aimed to generate a Z score calculation model for coronary artery diameter of normal children and adolescents to be adopted as the standard calculation method with consensus in clinical practice.
Methods:
This study was a retrospective, multicenter study that collected data from multiple institutions across South Korea. Data were analyzed to determine the model that best fit the relationship between the diameter of coronary arteries and independent demographic parameters. Linear, power, logarithmic, exponential, and square root polynomial models were tested for best fit.
Results:
Data of 2,030 subjects were collected from 16 institutions. Separate calculation models for each sex were developed because the impact of demographic variables on the diameter of coronary arteries differs according to sex. The final model was the polynomial formula with an exponential relationship between the diameter of coronary arteries and body surface area using the DuBois formula.
Conclusion
A new coronary artery diameter Z score model was developed and is anticipated to be applicable in clinical practice. The new model will help establish a consensus-based Z score model.
7.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.
8.Dental Age Estimation Using the Demirjian Method: Statistical Analysis Using Neural Networks
Byung-Yoon ROH ; Jong-Seok LEE ; Sang-Beom LIM ; Hye-Won RYU ; Su-Jeong JEON ; Ju-Heon LEE ; Yo-Seob SEO ; Ji-Won RYU ; Jong-Mo AHN
Korean Journal of Legal Medicine 2023;47(1):1-7
In children and adolescents, dental age estimation is performed with the development of the teeth. Various statistical analysis methods have been used to determine the relationship between age and dental maturity and develop an accurate method of age calculation. This study attempted to apply a neural network model for the statistical analysis of dental age estimation in children and evaluated its applicability. This study used 1196 panoramic radiographs of patients aged 3–16 years, and 996 and 200 were randomly classified into training and test sets, respectively. The dental maturity of the mandibular left teeth was evaluated using Demirjian's method, the neural network model using the backpropagation algorithm was derived using training sets, and the errors were evaluated using 100 radiographs of each male and female as test sets. In addition, multiple linear regression analysis was conducted on the same training set, and the error was calculated by applying it to the test set and comparing it with the error of the neural network model. In the neural network model, the mean absolute error (MAE) and root mean squared error (RMSE) were 0.589 and 0.783 in male subjects and 0.529 and 0.760 in female subjects, respectively. In the multiple linear regression model, the MAE and RMSE were 0.600 and 0.748 in male subjects and 0.566 and 0.789 in female subjects, respectively. When applying the neural network model to the statistical analysis of the dental developmental stage, the results were as accurate as those of conventional statistical analysis methods. This study’s approach is expected to be useful for estimating the ages of children.
9.Prevalence and Characteristics of Atrial Tachycardia From Noncoronary Aortic Cusp During Atrial Fibrillation Catheter Ablation
Myung-Jin CHA ; Jun KIM ; Yoon Jung PARK ; Min Soo CHO ; Hyoung-Seob PARK ; Soonil KWON ; Young Soo LEE ; Jinhee AHN ; Hyung-Oh CHOI ; Jong-Sung PARK ; YouMi HWANG ; Jin Hee CHOI ; Ki-Won HWANG ; Yoo-Ri KIM ; Seongwook HAN ; Seil OH ; Gi-Byoung NAM ; Kee-Joon CHOI ; Hui-Nam PAK
Korean Circulation Journal 2022;52(7):513-526
Background and Objectives:
Atrial tachycardias (ATs) from noncoronary aortic cusp (NCC) uncovered after radiofrequency ablation for atrial fibrillation (AF) are rarely reported. This study was conducted to investigate the prevalence and clinical characteristics of NCC ATs detected during AF ablation and compare their characteristics with de novo NCC ATs without AF.
Methods:
Consecutive patients who underwent radiofrequency catheter ablation for AF were reviewed from the multicenter AF ablation registry of 11 tertiary hospitals. The clinical and electrophysiological characteristics of NCC AT newly detected during AF ablation were compared with its comparators (de novo NCC AT ablation cases without AF).
Results:
Among 10,178 AF cases, including 1,301 redo ablation cases, 8 (0.08%) NCC AT cases were discovered after pulmonary vein isolation (PVI; 0.07% in first ablation and 0.15% in redo ablation cases). All ATs were reproducibly inducible spontaneously or with programmed atrial stimulation without isoproterenol infusion. The P-wave morphological features of tachycardia were variable depending on the case, and most cases exhibited 1:1 atrioventricular conduction. AF recurrence rate after PVI and NCC AT successful ablation was 12.5% (1 of 8). Tachycardia cycle length was shorter than that of 17 de novo ATs from NCC (303 versus 378, p=0.012). No AV block occurred during and after successful AT ablation.
Conclusions
Uncommon NCC ATs (0.08% in AF ablation cases) uncovered after PVI, showing different characteristics compared to de-novo NCC ATs, should be suspected irrespective of P-wave morphologies when AT shows broad propagation from the anterior interatrial septum.
10.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 ; ; ;
Clinical Endoscopy 2022;55(6):703-725
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 the management of advanced metachronous neoplasia. A more efficient and evidence-based guideline for postpolypectomy surveillance is required because of 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: (1) adenoma ≥10 mm in size; (2) 3 to 5 (or more) adenomas; (3) tubulovillous or villous adenoma; (4) adenoma containing high-grade dysplasia; (5) traditional serrated adenoma; (6) sessile serrated lesion (SSL) containing any grade of dysplasia; (7) serrated polyp of at least 10 mm in size; and (8) 3 to 5 (or more) SSLs. More studies are needed to fully comprehend the patients most likely to benefit from surveillance colonoscopy and the ideal surveillance interval to prevent metachronous CRC.

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