Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. Methods: Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. Results: After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. Conclusions We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.

Purpose: We investigated the possible effects of diabetic ketoacidosis (DKA) at the initial diagnosis of type 1 diabetes mellitus (T1DM) on the clinical outcomes of pediatric patients. Methods: Medical records of children and adolescents with newly diagnosed T1DM seen in the Ajou University Hospital from January 2008 to August 2020 were reviewed and analyzed. Results: Among 129 diagnosed T1DM patients, 40.3% presented with DKA. Although demographic and basic characteristics did not differ between DKA and non-DKA patients, DKA patients needed a significantly higher insulin dosage than non-DKA patients for 2 years after diagnosis. However, control of glycated hemoglobin was not different between the DKA and non-DKA groups during the observation period. In the biochemical analysis, C-peptide, insulin-like growth factor-1, and insulin-like growth factor binding protein 3, high-density lipoprotein cholesterol, free T4, and T3 values were lower, but thyroid-stimulating hormone, initial serum glucose, uric acid, total cholesterol, triglyceride, and low-density lipoprotein cholesterol values were higher in DKA patients than non-DKA patients at the diagnosis of T1DM; however, these differences were temporarily present and disappeared with insulin treatment. Other clinical outcomes, such as height, thyroid function, and urine microalbumin level, did not vary significantly between the DKA and non-DKA groups during 5 years of follow-up. Conclusion DKA at initial presentation reflects the severity of disease progression, and the deleterious effects of DKA seem to impact insulin secretion. Although no difference in long-term prognosis was found, early detection of T1DM should help to reduce DKA-related islet damage and the socioeconomic burden of T1DM.

Purpose: Because small for gestational age (SGA) children who fail to experience catch-up growth have an increased risk of short stature in adulthood, growth hormone (GH) treatment is recommended for effective growth. In this study, we evaluated the effect of GH treatment during the prepubertal period and analyzed for correlation between GH treatment response and clinical factors in SGA children. Methods: A retrospective, single-center study was conducted from 2014 to 2020. A total of 34 prepubertal children of short stature up to 4 years of age and born as SGA were enrolled. We recorded clinical data including birth data, age, weight, height, bone age (BA), and insulin-like growth factor 1 (IGF-1) levels. Results: The mean gestational age and birth weight were 37.50±2.51 weeks and 2,200.00±546.79 g. At the start of GH treatment, the mean chronological age and BA were 5.54±1.73 years and 4.52±1.85 years, respectively. The height standard deviation score (SDS) (-2.47±0.45) and IGF-1 SDS (0.16±1.57) were calculated. Height velocity was 9.43±1.40 cm during the first GH treatment year and 7.63±1.16 cm during the second year (P<0.05). The treatment growth response was positively correlated with young age (P=0.047) and lower BA (P=0.049) at the start of treatment. In multiple regression analysis, IGF-1 SDS change had a significantly positive association with GH treatment response (P=0.045). Conclusion GH treatment is effective for short stature SGA children who do not experience catch-up growth. Early initiation of GH treatment improved growth outcomes. As IGF-1 SDS is positively correlated with height SDS, IGF-1 monitoring is important during GH treatment of SGA prepubertal children.

Purpose: Because small for gestational age (SGA) children who fail to experience catch-up growth have an increased risk of short stature in adulthood, growth hormone (GH) treatment is recommended for effective growth. In this study, we evaluated the effect of GH treatment during the prepubertal period and analyzed for correlation between GH treatment response and clinical factors in SGA children. Methods: A retrospective, single-center study was conducted from 2014 to 2020. A total of 34 prepubertal children of short stature up to 4 years of age and born as SGA were enrolled. We recorded clinical data including birth data, age, weight, height, bone age (BA), and insulin-like growth factor 1 (IGF-1) levels. Results: The mean gestational age and birth weight were 37.50±2.51 weeks and 2,200.00±546.79 g. At the start of GH treatment, the mean chronological age and BA were 5.54±1.73 years and 4.52±1.85 years, respectively. The height standard deviation score (SDS) (-2.47±0.45) and IGF-1 SDS (0.16±1.57) were calculated. Height velocity was 9.43±1.40 cm during the first GH treatment year and 7.63±1.16 cm during the second year (P<0.05). The treatment growth response was positively correlated with young age (P=0.047) and lower BA (P=0.049) at the start of treatment. In multiple regression analysis, IGF-1 SDS change had a significantly positive association with GH treatment response (P=0.045). Conclusion GH treatment is effective for short stature SGA children who do not experience catch-up growth. Early initiation of GH treatment improved growth outcomes. As IGF-1 SDS is positively correlated with height SDS, IGF-1 monitoring is important during GH treatment of SGA prepubertal children.

Purpose: Antithyroid drugs (ATDs) are primarily used as an initial treatment in pediatric patients with Graves’ disease (GD). We aimed to investigate the long-term outcomes in pediatric GD patients receiving ATDs. Methods: Retrospective data from a single center were collected from April 2003 to July 2020. A total of 98 children and adolescents aged 2–16 years diagnosed with GD and receiving ATDs was enrolled. We investigated the factors correlated with remission by comparing children who achieved remission after 5 years and those with persistent disease. Results: The study included 76 girls (77.6%) and 22 boys (22.4%). During the 5-year follow-up period, 18 children (18.3%) maintained remission, ATDs could not be discontinued in 74 patients (75.5%), and relapse occurred in 6 patients (6.2%). The remission group had significantly lower thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII) level at diagnosis (P=0.002) and 3 months (P=0.002), 1 year (P=0.002), 2 years (P≤0.001), 3 years (P≤0.001), 4 years (P≤0.001), and 5 years (P≤0.001) after ATD treatment than did the nonremission group. The remission group also had a shorter time for TBII normalization after ATD treatment (P≤0.001). Multiple logistic regression analysis showed that the time to TBII normalization (cutoff time=2.35 years) was related to GD remission (odds ratio, 0.596; 95% confidence interval, 0.374–0.951). Conclusion TBII level and time to TBII normalization after ATD treatment can be used to predict remission in pediatric GD patients.

Purpose: Recombinant human growth hormone (rhGH) has been used to improve growth in children with Noonan syndrome (NS). This study aimed to investigate the efficacy of rhGH therapy in Korean children with NS. Methods: Seventeen prepubertal children (10 boys, 7 girls) with NS who received rhGH therapy for at least 3 years between 2008 and 2017 were included. To compare the response, age- and sex-matched children with GH deficiency (GHD; n=31) were included. Height and growth velocity before and during treatment were analyzed. Results: The mean age of NS patients was 6.34±2.32 years. After treatment, the height standard deviation score (SDS) increased from -2.93±0.81 to -1.51±1.00 in patients with NS and from -2.45±0.42 to -1.09±0.47 in patients with GHD. There were no significant differences in growth velocity or change in height SDS between patients with NS and GHD. Growth velocity in the first year of treatment was higher in patients with PTPN11 mutations than those without PTPN11 mutations, but the change in height SDS was not significantly different between those 2 groups. Conclusion rhGH therapy can increase linear growth in prepubertal children with NS. The growth response between patients with NS and patients with GHD was not significantly different. Furthermore, we observed that lower doses of growth hormone have a similar effect on height compared to previous studies in patients with NS. Our study indicates that rhGH treatment is useful for growth promotion.

No abstract available.
Humans ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroid Nodule*

No abstract available.
Humans ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroid Nodule*

PURPOSE: Despite the high prevalence of headaches in students, their lifestyles have not been well examined. We examined correlation between lifestyle and headache in Korean students. METHODS: We conducted a cross-sectional, school-based study from a randomized and proportional sample of 5,360 male and female students. The questionnaires include demographic data, lifestyle, in addition to specific questions about headache according to International Classification of Headache Disorder II (ICHD-II) criteria. Valid questionnaires were returned by 94.1% (5,039, boys 2,405, girls 2,634) of the sample. Modified criteria changed the item 'duration' in migraine (>1 hour instead of 4 hours). We analyzed the data in terms of exercise, regular eating, sleep time, fluid intake, and caffeine intake. RESULTS: Students on regular exercise have less headache (P=0.03). Students who eat regularly have less recurrent headache (P<0.0001, odds ratio=0.5). Students sleep more have less headache (P<0.0001). Students take more fluid have less headache (P=0.0002). Students take more caffeine have more headache (P=0.0001). CONCLUSION: There seem to be a significant relationship between life style and headache in school children in South Korea. We suggest that changing the lifestyles or habits should be considered to manage and prevent headaches in school children.
Caffeine ; Child ; Eating ; Female ; Headache ; Headache Disorders ; Humans ; Life Style ; Male ; Migraine Disorders ; Prevalence ; Surveys and Questionnaires ; Republic of Korea

Cogan's syndrome is a rare chronic inflammatory disease of unknown origin, characterized by nonsyphilitic interstitial keratitis, vestibuloauditory dysfunction and vasculitis. Cogan's syndrome is uncommon and few cases have been published. A case of Cogan's syndrome in a patient with anti-Ro and anti-La positivity is described. A 24-year-old woman visited to department of rheumatology with dry mouth, dry eye, and vertigo on August 2004, and interstitial keratitis had developed on October 2004. She was admitted to the otolaryngology department with rapidly progressive hearing loss on December 2004. The patient's audiogram revealed severe sensorineural deafness. The patient was treated with systemic corticosteroid and methotrexate. This case is the first to report a case of Cogan's syndrome associated with anti-Ro and anti-La positivity.
Antibodies* ; Cogan Syndrome* ; Deafness ; Female ; Hearing Loss ; Humans ; Keratitis ; Methotrexate ; Mouth ; Otolaryngology ; Rheumatology ; Vasculitis ; Vertigo ; Young Adult