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: There are few reports on the therapeutic effects of gonadotropin-releasing hormone agonists in boys with central precocious puberty, and studies reported in Korea are very rare. We aimed to assess the significance of clinical factors and the effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys diagnosed with central precocious puberty. Methods: We retrospectively evaluated the medical records of 18 boys treated for idiopathic central precocious puberty between 2007 and 2018 at Chosun University Hospital. Gestational age, birth weight, and parental height were assessed at the initial visit. Chronological age, bone age, bone age/chronological age ratio, height and height standard deviation scores, predicted adult height, body mass index, and hormone levels were assessed during the treatment period. Results: At the time of diagnosis, the chronological age was 9.9±0.6 years, the bone age was 11.6±1.0 years, and the bone age/chronological age ratio was 1.20±0.1. The bone age/chronological age ratio decreased significantly to 1.12±0.1 at the end of treatment (P<0.05). The luteinizing hormone/follicular stimulating hormone ratios were 3.4±1.2, 0.6±0.4, and 0.6±1.0 at the start of treatment, after 1 year of treatment, and at the end of treatment, respectively. After gonadotropin-releasing hormone agonist treatment, the final adult height reached 172.0±4.8 cm compared to the target height range of 171.0±4.0 cm. Conclusion In boys with central precocious puberty, gonadotropin-releasing hormone agonist treatment improved growth potential.

Purpose: The clinical significance of birth weight relative to gestational age in girls with central precocious puberty is unclear. This study sought to compare clinical parameters such as final adult height (FAH) and menarche onset after treatment with gonadotropin-releasing hormone agonist (GnRHa) on birth weight in girls with central precocious puberty treated. Methods: This retrospective study reviewed data of 69 girls with precocious puberty who had reached their FAH in a long-term trial of GnRHa treatment between January 2007 and December 2017. The subjects were divided into small for gestational age (SGA) (n=19) and appropriate for gestational age (AGA) (n=50) groups. Results: When starting GnRHa treatment, bone age was 10.9±0.9 and 10.3±0.8 years in the SGA and AGA groups, respectively (P<0.05). The predicted adult height (PAH) (established according to the Bayley-Pinneau average table) and advanced PAH (established according to the Bayley-Pinneau advanced table) were 151.5±4.8 cm and 155.8±4.9 cm in the SGA group, respectively, and 153.4±5.3 cm and 159.0±6.0 cm in the AGA group. After treatment, no significant difference in bone age was found between the groups. The time to menarche after treatment was 12.5±7.6 and 21.1±12.3 months in the SGA and AGA groups, respectively (P<0.05). FAH in the SGA and AGA groups was 161.0±4.7 cm and 161.6±5.0 cm, respectively, without a significant difference. Conclusion SGA girls with precocious puberty have increased bone age and earlier menarche relative to AGA girls. However, no difference in FAH after treatment was found between these groups.

PURPOSE: We observed an association between obesity and UTI in infants and pediatric patients, which we aimed to validate in this study. METHODS: The medical records of 740 patients (≤24 months old) hospitalized with fever were retrospectively analyzed. The patients were subdivided into 2 groups, namely, the UTI and control (non UTI) groups. We analyzed the patient's height, weight. Obesity was defined as weight-for-length ≥95(th) percentile, and the association between obesity and UTI was evaluated. RESULTS: Out of 740 patients, 253 and 487 patients were in the UTI group and the control group, respectively. A comparative analysis, based on 3 age groups (0–5 months, 6–11 months, and 12–24 months) showed higher proportion of obesity in the UTI group (26.4%) than in the control group (13.0%) in the 0–5 months group. After adjusting for age and gender in the 0–5 month group, the obesity group was 3.76 times likely to have an UTI (95% CI 1.419–9.98). CONCLUSION: Obesity and UTI show strong association, especially in infants aged 0–5 months. Febrile obese infant patients (≤5 months old) visiting medical centers should be advised urine tests for potential UTI.
Child ; Fever ; Humans ; Infant ; Medical Records ; Obesity ; Pediatrics ; Retrospective Studies ; Urinary Tract Infections

Subcutaneous emphysema is a rare complication of maxillofacial and dental surgery, and may be life-threatening because it can rapidly spread to the scalp, neck, and chest. We report a case of severe subcutaneous emphysema with pneumomediastinum during restorative dentistry in a child with difficulty in communication. The patient was hospitalized for conservative treatment and discharged after complete recovery as a result of timely diagnosis and treatment. Dentists and pediatricians should be aware of potential subcutaneous emphysema during dental treatment, with careful monitoring to ensure prompt diagnosis and treatment.
Child ; Dentistry ; Dentists ; Diagnosis ; Humans ; Mediastinal Emphysema ; Neck ; Oral Surgical Procedures ; Pediatrics ; Scalp ; Subcutaneous Emphysema ; Thorax ; Tooth Extraction

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
Adolescent ; Diagnosis* ; Exome* ; Genetic Heterogeneity* ; Humans ; Kidney Failure, Chronic ; Korea ; Liver ; Mass Screening ; Wills

Autoimmune thyroiditis is the most common cause of hypothyroidism in the world. It is characterized clinically by gradual thyroid failure, goiter formation, or both, because of the autoimmune-mediated destruction of the thyroid gland. Renal involvement presenting proteinuria in autoimmune thyroiditis is not uncommon, occurring in 10% to 30% of the cases. Glomerulonephropathy associated with autoimmune thyroiditis, however, is a rare disease. Most reports of autoimmune thyroiditis with glomerulonephropathy have demonstrated a mixed pathological morphology and have been predominantly associated with membranous glomerulopathy. The case of minimal-change disease associated with thyroiditis presenting acute kidney injury is a rare disease that has not been reported in South Korea. Reported herein is the case of a 16-year-old man diagnosed with Hashimoto's thyroiditis, with minimal-change disease presenting acute kidney injury. He revealed hypothyroidism, proteinuria, and impaired renal function. Renal biopsy showed minimal-change disease and minimal tubular atrophy. The patient was treated with thyroid hormone, and his renal function and proteinuria improved. Therefore, for patients with autoimmune thyroiditis presenting unexplained proteinuria, glomerulonephropathy should be ruled out. Conversely, for patients with glomerulonephropathy and persistent proteinuria despite proper treatment, thyroid function and antibody tests should be performed.
Acute Kidney Injury* ; Adolescent ; Atrophy ; Biopsy ; Glomerulonephritis, Membranous ; Goiter ; Humans ; Hypothyroidism ; Korea ; Nephrosis, Lipoid* ; Proteinuria ; Rare Diseases ; Thyroid Gland ; Thyroiditis ; Thyroiditis, Autoimmune*

BACKGROUND/AIMS: The purpose of this study was to compare changes in primary percutaneous coronary artery intervention (PCI) outcomes after starting the government-directed Busan-Ulsan Regional Cardiocerebrovascular Center Project. METHODS: Patients with ST segment elevation myocardial infarction (STEMI) who visited the Busan-Ulsan Regional Cardiocerebrovascular Center from 1 June 2009 to 30 May 2011 were selected. Their medical records were retrospectively reviewed. Clinical and survival outcomes before and after starting the project were compared. RESULTS: A total of 122 patients (mean age, 63 +/- 13 years; male, 74%) with STEMI were selected for analysis. There were no significant differences in patients' baseline characteristics. After starting the Busan-Ulsan Regional Cardiocerebrovascular Center Project, the door-to-balloon time decreased from 72 +/- 30 to 59 +/- 22 minutes (p = 0.011). The door-to-balloon time when the PCI team did not stay in the hospital also decreased from 80 +/- 30 to 62 +/- 12 minutes (p = 0.005). However, there was no significant change in the total ischemic time (339 +/- 293 vs. 304 +/- 287 minutes, p = 0.514), survival discharge rate (94% vs. 93%, p = 1.000), or 1-year survival rate (89% vs. 91%, p = 0.996). CONCLUSIONS: After starting the government-directed Busan-Ulsan Regional Cardiocerebrovascular Center Project, the door-to-balloon time was significantly reduced. However, the total ischemic time and short-term survival remained unchanged.
Coronary Vessels ; Humans ; Male ; Medical Records ; Myocardial Infarction ; Percutaneous Coronary Intervention ; Retrospective Studies ; Survival Rate

No abstract available.
Microsporum ; Tinea Capitis

A hemorrhoid is the most common cause of acute lower gastrointestinal (LGI) bleeding. Diverticulosis, angiodysplasia and ischemic colitis can also cause LGI bleeding. Acute LGI bleeding from the appendix is very rare. We experienced a case of a 33-year-old woman with acute LGI bleeding from the appendix. Colonoscopy demonstrated an active hemorrhage from the orifice of the appendix. The patient was treated with a appendectomy, and a histological examination showed the presence of a small ulcer with inflamed granulation tissue in the mucosa and submucosa.
Adult ; Angiodysplasia ; Appendectomy ; Appendix ; Colitis, Ischemic ; Colonoscopy ; Diverticulum ; Female ; Granulation Tissue ; Hemorrhage ; Hemorrhoids ; Humans ; Mucous Membrane ; Ulcer