1.Epigenome-wide Association Study for Tic Disorders in Children:A Preliminary Study in Korean Population
Young Kyung KO ; Suhyuk CHI ; Gyu-Hwi NAM ; Kyung-Wan BAEK ; Kung AHN ; Yongju AHN ; June KANG ; Moon-Soo LEE ; Jeong-An GIM
Clinical Psychopharmacology and Neuroscience 2024;22(2):295-305
Objective:
Tic disorders can affect the quality of life in both childhood and adolescence. Many factors are involved in the etiology of tic disorders, and the genetic and epigenetic factors of tic disorders are considered complex and heterogeneous.
Methods:
In this study, the differentially methylated regions (DMRs) between normal controls (n = 24; aged 6−15; 7 females) and patients with tic disorders (n = 16; aged 6−15; 5 females) were analyzed. We performed an epigenome-wide association study of tic disorders in Korean children. The tics were assessed using Yale Global Tic Severity Scale. The DNA methylation data consisted of 726,945 cytosine phosphate guanine (CpG) sites, assessed using the Illumina Infinium MethylationEPIC (850k) BeadChip. The DNA methylation data of the 40 participants were retrieved, and DMRs between the four groups based on sex and tic disorder were identified. From 28 male and 16 female samples, 37 and 38 DMRs were identified, respectively. We analyzed the enriched terms and visualized the network, heatmap, and upset plot.
Results:
In male, Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis revealed hypomethylated patterns in the ligand, receptor, and second signal transductors of the PI3K-Akt and MAPK signaling pathway (most cells were indicated as green color), and in female, the opposite patterns were revealed (most cells were indicated as red color). Five mental disorder-related enriched terms were identified in the network analysis.
Conclusion
Here, we provide insights into the epigenetic mechanisms of tic disorders. Abnormal DNA methylation patterns are associated with mental disorder-related symptoms.
2.ChatGPT Predicts In-Hospital All-Cause Mortality for Sepsis: In-Context Learning with the Korean Sepsis Alliance Database
Namkee OH ; Won Chul CHA ; Jun Hyuk SEO ; Seong-Gyu CHOI ; Jong Man KIM ; Chi Ryang CHUNG ; Gee Young SUH ; Su Yeon LEE ; Dong Kyu OH ; Mi Hyeon PARK ; Chae-Man LIM ; Ryoung-Eun KO ;
Healthcare Informatics Research 2024;30(3):266-276
Objectives:
Sepsis is a leading global cause of mortality, and predicting its outcomes is vital for improving patient care. This study explored the capabilities of ChatGPT, a state-of-the-art natural language processing model, in predicting in-hospital mortality for sepsis patients.
Methods:
This study utilized data from the Korean Sepsis Alliance (KSA) database, collected between 2019 and 2021, focusing on adult intensive care unit (ICU) patients and aiming to determine whether ChatGPT could predict all-cause mortality after ICU admission at 7 and 30 days. Structured prompts enabled ChatGPT to engage in in-context learning, with the number of patient examples varying from zero to six. The predictive capabilities of ChatGPT-3.5-turbo and ChatGPT-4 were then compared against a gradient boosting model (GBM) using various performance metrics.
Results:
From the KSA database, 4,786 patients formed the 7-day mortality prediction dataset, of whom 718 died, and 4,025 patients formed the 30-day dataset, with 1,368 deaths. Age and clinical markers (e.g., Sequential Organ Failure Assessment score and lactic acid levels) showed significant differences between survivors and non-survivors in both datasets. For 7-day mortality predictions, the area under the receiver operating characteristic curve (AUROC) was 0.70–0.83 for GPT-4, 0.51–0.70 for GPT-3.5, and 0.79 for GBM. The AUROC for 30-day mortality was 0.51–0.59 for GPT-4, 0.47–0.57 for GPT-3.5, and 0.76 for GBM. Zero-shot predictions using GPT-4 for mortality from ICU admission to day 30 showed AUROCs from the mid-0.60s to 0.75 for GPT-4 and mainly from 0.47 to 0.63 for GPT-3.5.
Conclusions
GPT-4 demonstrated potential in predicting short-term in-hospital mortality, although its performance varied across different evaluation metrics.
3.Deceased Male with a Cigarette In Situ : Is This a Cadaveric Spasm?
In-Gyu SON ; Joo-Young NA ; Jin-Haeng HEO ; Young San KO
Korean Journal of Legal Medicine 2024;48(3):132-135
When death occurs, the supply of adenosine triphosphate through respiration ceases, and rigor mortis begins approximately 20 minutes after death. The underlying mechanisms of rigor mortis and cadaveric spasm are assumed to be similar. However, unlike rigor mortis, cadaveric spasm is a very rare phenomenon in which muscle stiffness develops almost immediately after death. Herein we describe a 27-year-old male with suspected cadaveric spasm. A forensic pathologist concluded that the cause of death was a head injury due to a fall. When the body was discovered, a cigarette remained in the mouth, suggesting a cadaveric spasm. Some opinions deny the existence of cadaveric spasm because there is no precise pathophysiological mechanism to support it. Cadaveric spasm could not be confirmed in the present case; however, while the complete mechanism is unclear, as in this case, it is sometimes difficult to rule out the presence of cadaveric spasm in forensic investigations. Therefore, a comprehensive forensic examination is necessary, and forensic examiners should be cautious.
4.Introduction of the Korea BioData Station (K-BDS) for sharing biological data
Byungwook LEE ; Seungwoo HWANG ; Pan-Gyu KIM ; Gunwhan KO ; Kiwon JANG ; Sangok KIM ; Jong-Hwan KIM ; Jongbum JEON ; Hyerin KIM ; Jaeeun JUNG ; Byoung-Ha YOON ; Iksu BYEON ; Insu JANG ; Wangho SONG ; Jinhyuk CHOI ; Seon-Young KIM
Genomics & Informatics 2023;21(1):e12-
A wave of new technologies has created opportunities for the cost-effective generation of high-throughput profiles of biological systems, foreshadowing a "data-driven science" era. The large variety of data available from biological research is also a rich resource that can be used for innovative endeavors. However, we are facing considerable challenges in big data deposition, integration, and translation due to the complexity of biological data and its production at unprecedented exponential rates. To address these problems, in 2020, the Korean government officially announced a national strategy to collect and manage the biological data produced through national R&D fund allocations and provide the collected data to researchers. To this end, the Korea Bioinformation Center (KOBIC) developed a new biological data repository, the Korea BioData Station (K-BDS), for sharing data from individual researchers and research programs to create a data-driven biological study environment. The K-BDS is dedicated to providing free open access to a suite of featured data resources in support of worldwide activities in both academia and industry.
5.A Report on a Nationwide Surveillance System for Pediatric Acute Hepatitis of Unknown Etiology in Korea
Kyung Jae LEE ; Jae Sung KO ; Kie Young PARK ; Ki Soo KANG ; Kunsong LEE ; Jeana HONG ; Soon Chul KIM ; Yoon LEE ; Ben KANG ; Yu Bin KIM ; Hyun Jin KIM ; Byung Wook EUN ; Hye-Kyung CHO ; Yae-Jean KIM ; Mi Jin KIM ; Jin LEE ; Taek-Jin LEE ; Seak Hee OH ; Sowon PARK ; Eun Ha HWANG ; Sangjun SOHN ; Jin Gyu LIM ; YooJin KIM ; Yeoun Joo LEE
Journal of Korean Medical Science 2023;38(47):e401-
Background:
Several cases of pediatric acute hepatitis of unknown etiology related to adenoviral infections have been reported in Europe since January 2022. The aim of this study was to compare the incidence, severity, possible etiology, and prognosis of the disease with those in the past in Korea.
Methods:
The surveillance group collected data between May and November 2022 using a surveillance system. Acute hepatitis of unknown etiology was defined in patients aged < 16 years with a serum transaminase level > 500 IU/L, not due to hepatitis A-E or other underlying causes. For comparison, data from 18 university hospitals were retrospectively collected as a control group between January 2021 and April 2022.
Results:
We enrolled 270 patients (mean age, 5 years). The most common symptom was fever. However, the incidence was similar between 2021 and 2022. Liver function test results, number of patients with acute liver failure (ALF), liver transplantation (LT), death, and adenovirus detection rates did not differ between the two groups. None of the adenoviruspositive patients in either group experienced ALF, LT, or death. In the surveillance group, adenovirus-associated virus-2 was detected in four patients, one of whom underwent LT. Patients with an unknown etiology showed significantly higher bilirubin levels, a lower platelet count, and a higher LT rate than patients with a possible etiology.
Conclusion
The incidence of pediatric acute hepatitis of unknown etiology and adenovirus detection rate have not increased in Korea.
6.Association Between Body Mass Index and Clinical Outcomes According to Diabetes in Patients Who Underwent Percutaneous Coronary Intervention
Byung Gyu KIM ; Sung-Jin HONG ; Byeong-Keuk KIM ; Yong-Joon LEE ; Seung-Jun LEE ; Chul-Min AHN ; Dong-Ho SHIN ; Jung-Sun KIM ; Young-Guk KO ; Donghoon CHOI ; Myeong-Ki HONG ; Yangsoo JANG
Korean Circulation Journal 2023;53(12):843-854
Background and Objectives:
We evaluated the effect of diabetes on the relationship between body mass index (BMI) and clinical outcomes in patients following percutaneous coronary intervention (PCI) with drug-eluting stent implantation.
Methods:
A total of 6,688 patients who underwent PCI were selected from five different registries led by Korean Multicenter Angioplasty Team. They were categorized according to their BMI into the following groups: underweight (<18.5 kg/m 2 ), normal weight (18.5–24.9 kg/m 2 ), overweight to obese (≥25.0 kg/m 2 ). Major adverse cardiac and cerebrovascular events (MACCE), defined as a composite of death, nonfatal myocardial infarction, stroke, and target-vessel revascularization, were compared according to the BMI categories (underweight, normal and overweight to obese group) and diabetic status. All subjects completed 1-year follow-up.
Results:
Among the 6,688 patients, 2,561 (38%) had diabetes. The underweight group compared to normal weight group had higher 1-year MACCE rate in both non-diabetic (adjusted hazard ratio [HR], 2.24; 95% confidence interval [CI], 1.04–4.84; p=0.039) and diabetic patients (adjusted HR, 2.86; 95% CI, 1.61–5.07; p<0.001). The overweight to obese group had a lower MACCE rate than the normal weight group in diabetic patients (adjusted HR, 0.67 [0.49–0.93]) but not in non-diabetic patients (adjusted HR, 1.06 [0.77–1.46]), with a significant interaction (p-interaction=0.025).
Conclusions
Between the underweight and normal weight groups, the association between the BMI and clinical outcomes was consistent regardless of the presence of diabetes.However, better outcomes in overweight to obese over normal weight were observed only in diabetic patients. These results suggest that the association between BMI and clinical outcomes may differ according to the diabetic status.
8.Association between History of Pregnancy and Liver Fibrosis Using Fibrosis-4 Index in Korean Postmenopausal Women: A Nationwide Population-Based Study
Jae-Joon AHN ; Joo-Hyun PARK ; Do-Hoon KIM ; Hyun-Jin KIM ; Hyung-Seok KO ; Jun-Yeon KWON ; Young-Sang KOH ; Jin-Hyung JUNG ; Gyu-Na LEE ; Kyungdo HAN
Korean Journal of Family Medicine 2022;43(6):388-395
Background:
The association between a history of pregnancy and liver fibrosis remains unclear. Herein, we investigated the association between reproductive factors, including a history of pregnancy and liver fibrosis, in postmenopausal Korean women.
Methods:
This study used nationally representative, population-based data collected from the Korea National Health and Nutrition Examination Survey 2008–2017. Of 14,624 women with natural menopause, 11,085 with no previous history of any type of cancer, hepatitis, or chronic heavy alcohol consumption were enrolled. We investigated the reproductive factors, including a history of pregnancy, total reproductive years, age at menarche and menopause, and oral contraceptive use. Liver fibrosis was defined as a Fibrosis-4 index score ≥2.67 kg/m2.
Results:
Of the study participants, 372 (3.3%) had advanced liver fibrosis. Multivariable logistic regression analysis showed that women with a history of more than one pregnancy were associated with a lower risk of liver fibrosis compared to women who had never been pregnant, after adjusting for potential confounders (adjusted odds ratio, 0.30; 95% confidence interval, 0.15–0.59). The risk of liver fibrosis did not increase significantly with an increasing number of pregnancies (P for trend=0.135). Other reproductive factors, including total reproductive years, age at menopause and menarche, and oral contraceptive use, were not significantly associated with liver fibrosis.
Conclusion
Postmenopausal women who had experienced one or more pregnancies had a reduced risk of liver fibrosis. Our findings reveal a potential protective role of pregnancy against liver fibrosis.
9.Factors associated with the risk of colorectal neoplasia in young adults under age 40
Ilsoo KIM ; Han Hee LEE ; Young Jae KO ; Ho Eun CHANG ; Dae Young CHEUNG ; Bo-In LEE ; Young-Seok CHO ; Jin Il KIM ; Myung-Gyu CHOI
The Korean Journal of Internal Medicine 2022;37(5):969-978
Background/Aims:
Recent epidemiologic studies have shown a continued increase in colorectal cancer incidence among younger adults. Little is known about the factors that contribute to the development of young-onset colorectal neoplasia (CRN).
Methods:
A cross-sectional analysis was performed for individuals younger than 40 years who underwent colonoscopy in Seoul St. Mary’s Hospital and its affiliated health screening center. High-risk CRN was defined as adenoma or sessile serrated lesion ≥ 10 mm, with three or more adenomas, villous histology, high grade dysplasia, or carcinoma.
Results:
Of these 13,621 included participants, 2,023 (14.9%) had one and more CRN. Young patients with CRN tended to be elderly, male, obese, smoker, having a habit of drinking, and having comorbidities such as hypertension, dyslipidemia, diabetes, and chronic kidney disease. In a multivariate analysis adjusted for age, sex, obesity, smoking status, and alcohol intake, old age (odds ratio [OR], 1.086; 95% confidence interval [CI], 1.054 to 1.119), male sex (OR, 1.748; 95% CI, 1.247 to 2.451), obesity (OR, 1.439; 95% CI, 1.133 to 1.828), and smoking (OR, 1.654; 95% CI, 1.287 to 2.127) were independent risk factors for overall CRN. Obesity and smoking as two modifiable factors increased the risk for high-risk CRN even more than for overall CRN (OR, 1.734; 95% CI, 1.168 to 2.575 and OR, 1.797; 95% CI, 1.172 to 2.753, respectively).
Conclusions
Obesity and smoking were modifiable risk factors for CRN in young adults. They increased the risk for highrisk CRN even more than for overall CRN. A colonoscopy might be beneficial for young individuals with these factors.
10.Voluntary Wheel Running Exercise Improves Aging-Induced Sarcopenia via Activation of Peroxisome Proliferator-Activated Receptor Gamma Coactivator-1α/Fibronectin Type III Domain-Containing Protein 5/Adenosine Monophosphate-Activated Protein Kinase Signaling Pathway
International Neurourology Journal 2021;25(Suppl 1):S27-34
Purpose:
In this study, the protective effect of voluntary wheel running exercise on muscle loss and muscle weakness in gastrocnemius of old rats was investigated. The association of voluntary wheel exercise with the peroxisome proliferator-activated receptor gamma coactivator-1α (PGC-1α)/fibronectin type III domain-containing protein 5 (FNDC5)/adenosine monophosphate- activated protein kinase (AMPK) signaling pathway and vascular endothelial growth factor (VEGF) expression was also evaluated.
Methods:
Six-month-old and 22-month-old male rats were used for this experiment. The rats in voluntary wheel running exercise groups were performed wheel running for 2 months. Weight bearing test for walking strength, rotarod test for motor coordination and balance, hematoxylin and eosin (H&E) staining for histological changes in the muscle tissues, Western blot analysis for PGC-1α, FNDC5, AMPK, immunofluorescence for VEGF were conducted.
Results:
Decreased muscle mass, strength, and coordination due to aging were associated with a decrease in the PGC-1α/ FNDC5/AMPK signaling pathway in the gastrocnemius. Voluntary wheel running exercise enhanced VEGF expression by activating the PGC-1α/FNDC5/AMPK signaling pathway, then increased muscle mass, strength, and coordination.
Conclusions
It has been suggested that voluntary wheel running exercise alleviates symptoms of urological diseases that are difficult to treat. Wheel running exercise is a good therapeutic strategy to prevent or treat aging-related sarcopenia.

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