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.

Background: The gut–brain axis (GBA) in Parkinson’s disease (PD) has only been investigated in limited mice models despite dysbiosis of the gut microbiota being considered one of the major treatment targets for neurodegenerative disease. Therefore, this study examined the compositional changes of fecal microbiota in novel transgenic (Tg) mice overexpressing human α-synuclein (hαSyn) proteins under the neuron-specific enolase (NSE) to analyze the potential as GBA model. Results: The expression level of the αSyn proteins was significantly higher in the substantia nigra and striatum of NSEhαSyn Tg mice than the Non-Tg mice, while those of tyrosine hydroxylase (TH) were decreased in the same group. In addition, a decrease of 72.7% in the fall times and a 3.8-fold increase in the fall number was detected in NSE-hαSyn Tg mice. The villus thickness and crypt length on the histological structure of the gastrointestinal (GI) tract decreased in NSE-hαSyn Tg mice. Furthermore, the NSE-hαSyn Tg mice exhibited a significant increase in 11 genera, including Scatolibacter, Clostridium, Feifania, Lachnoclostridium, and Acetatifactor population, and a decrease in only two genera in Ligilactobacillus and Sangeribacter population during enhancement of microbiota richness and diversity. Conclusions The motor coordination and balance dysfunction of NSE-hαSyn Tg mice may be associated with compositional changes in gut microbiota. In addition, these mice have potential as a GBA model.

Thyrotoxic periodic paralysis (TPP) is a notable and potentially lethal complication of thyrotoxicosis, and Graves' disease is the most common cause of TPP. TPP is commonly reported in Asian males between 20–40 years of age, but it is rare in children and adolescents. We report 2 Korean adolescents (a 16-year-old male and a 14-year-old female) with episodes of TPP who were previously diagnosed with Graves' disease. These 2 patients presented with lower leg weakness in the morning after waking up. They were diagnosed with TPP-associated with thyrotoxicosis due to Graves' disease. After they were initially treated with potassium chloride and antithyroid drugs, muscle paralysis improved and an euthyroid state without muscle paralytic events was maintained during follow-up. Therefore, clinicians should consider TPP when patients have sudden paralysis and thyrotoxic symptoms such as goiter, tachycardia, and hypertension.
Adolescent ; Antithyroid Agents ; Asian Continental Ancestry Group ; Child ; Follow-Up Studies ; Goiter ; Graves Disease ; Humans ; Hypertension ; Hypokalemia ; Hypokalemic Periodic Paralysis ; Leg ; Male ; Paralysis ; Potassium Chloride ; Tachycardia ; Thyrotoxicosis

PURPOSE: Many studies have reported that patients with type 1 diabetes have reduced bone mineral density (BMD). We assessed bone status in prepubertal children with type 1 diabetes mellitus (type 1 DM) at initial diagnosis and investigated factors associated with BMD. METHODS: Prepubertal children (n=29) with newly diagnosed type 1 diabetes from 2006 to 2014 were included. Dual-energy X-ray absorptiometry measured regional and whole-body composition at initial diagnosis. BMD was compared with healthy controls matched for age, sex, and body mass index (BMI). RESULTS: The mean age of all subjects (16 boys and 13 girls) was 7.58±1.36 years (range, 4.8–11.3 years). Initial mean glycosylated hemoglobin (HbA1c) level was 12.2%±1.9%. The mean BMD z-scores of lumbar spine, femur neck, and total body were not significantly different between patients and controls. Three patients (10.3%) had low bone density (total body BMD standard deviation score [SDS] < -2.0). To identify determinants of lumbar spine BMD z-score, multivariate regression analysis was performed with stepwise variable selection of age, pubertal status, BMI SDS, insulin like growth factor-1, and HbA1c. Only BMI SDS was significantly correlated with lumbar spine BMD z-score (β=0.395, P=0.023). CONCLUSIONS: Prepubertal children with newly diagnosed type 1 DM had similar bone mass compared to healthy peers. However, patients with low BMI should be carefully monitored for bone density in type 1 DM.
Absorptiometry, Photon ; Body Mass Index ; Bone Density ; Child* ; Diabetes Mellitus, Type 1 ; Diagnosis ; Femur Neck ; Hemoglobin A, Glycosylated ; Humans ; Insulin ; Miners* ; Spine

Treatment of ventricular arrhythmias (VA) usually involves managing the underlying cardiac conditions that cause the arrhythmia. However, managing the underlying disease is often challenging, and catheter ablation, or treatment targeting the VA itself might be required in a few patients. In this article, we explored evidence and recommendations regarding the treatment of VA in patients with structural heart disease focusing on the utilization of catheter ablation in these patients. The administration of optimal medical therapy, insertion of an implantable cardioverter-defibrillator, or resynchronization therapy improves survival in patients with left ventricular dysfunction. The role of catheter ablation in preventing sudden cardiac death remains uncertain in this population. In patients with coronary artery disease, reversing myocardial ischemia via revascularization is important in managing VA. Catheter ablation is recommended in patients with recurrent ventricular tachycardia in a setting of ischemic heart disease. In patients with non-ischemic cardiomyopathies such as dilated cardiomyopathy or hypertrophic cardiomyopathy, catheter ablation may be considered for those presenting with drug-refractory ventricular tachycardia.
Arrhythmias, Cardiac ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Catheter Ablation ; Catheters ; Coronary Artery Disease ; Death, Sudden, Cardiac ; Defibrillators, Implantable ; Heart Diseases ; Humans ; Myocardial Ischemia ; Tachycardia, Ventricular ; Ventricular Dysfunction, Left

The recommendations outlined constitute the first clinical practice guidelines of the Korean Heart Rhythm Society regarding catheter ablation of ventricular arrhythmias (VA). This is a guideline PART 2, which includes VA in the structurally normal heart, inherited primary arrhythmia syndromes, VA related to congenital heart disease, as well as VA and sudden cardiac death observed in specific populations. In the structurally normal heart, treatment is guided by the occurrence of symptoms or the frequency of arrhythmias that cause ventricular dysfunction over time. Catheter ablation can be recommended in patients in whom anti-arrhythmic medications are ineffective. The sites of origin of arrhythmic activity are known to be the outflow tract, fascicles, papillary muscle, or the annulus. Specific cardiac channelopathies include congenital long QT and Brugada syndrome. This guideline discusses the diagnostic criteria, risk stratification, and treatment of these syndromes. We have included recommendations for adult congenital heart disease. Moreover, we have discussed the management of VA occurring in specific populations such as in patients with psychiatric and neurological disorders, pregnant patients, those with obstructive sleep apnea or drug-related pro-arrhythmias, athletes, and elderly patients.
Adult ; Aged ; Arrhythmias, Cardiac ; Athletes ; Brugada Syndrome ; Catheter Ablation ; Catheters ; Channelopathies ; Death, Sudden, Cardiac ; Heart ; Heart Defects, Congenital ; Humans ; Nervous System Diseases ; Papillary Muscles ; Sleep Apnea, Obstructive ; Ventricular Dysfunction

Ventricular arrhythmias (VA) are a major cause of sudden cardiac death (SCD) in patients with known heart disease. Risk assessment and effective prevention of SCD are key issues in these patients. Implantable cardioverter defibrillator (ICD) insertion effectively treats sustained VA and reduces mortality in patients at high risk of SCD. Appropriate anti-arrhythmic drugs and catheter ablation reduce the VA burden and the occurrence of ICD shocks. In this guideline, authors have described the general examination and medical treatment of patients with VA. Medications and catheter ablation are also used as acute phase therapy for sustained VA.
Arrhythmias, Cardiac ; Catheter Ablation ; Catheters ; Death, Sudden, Cardiac ; Defibrillators ; Heart Diseases ; Humans ; Mortality ; Risk Assessment ; Shock

Great advances have been made in the field of assisted reproductive technology (ART) since the first in vitro fertilization (IVF) baby was born in Korea in the year of 1985. However, it deserve to say that the invaluable data from fertility centers may serve as a useful source to find out which factors affect successful IVF outcome and to offer applicable information to infertile patients and fertility clinics. This article intended to report the status of ART in 2009 Korean Society of Obstetrics and Gynecology surveyed. The current survey was performed to assess the status and success rate of ART performed in Korea, between January 1 and December 31, 2009. Reporting forms had been sent out to IVF centers via e-mail, and collected by e-mail as well in 2012. With International Committee Monitoring Assisted Reproductive Technologies recommendation, intracytoplasmic sperm injection (ICSI) and non-ICSI cases have been categorized and also IVF-ET cases involving frozen embryo replacement have been surveyed separately. Seventy-four centers have reported the treatment cycles initiated in the year of 2009, and had performed a total of 27,947 cycles of ART treatments. Among a total of 27,947 treatment cycles, IVF and ICSI cases added up to 22,049 (78.9%), with 45.3% IVF without ICSI and 54.7% IVF with ICSI, respectively. Among the IVF and ICSI patients, patients confirmed to have achieved clinical pregnancy was 28.8% per cycle with oocyte retrieval, and 30.9% per cycle with embryo transfer. The most common number of embryos transferred in 2009 is three embryos (40.4%), followed by 2 embryos (28.4%) and a single embryo transferred (13.6%). Among IVF and ICSI cycles that resulted in multiple live births, twin pregnancy rate was 45.3% and triple pregnancy rate was 1.1%. A total of 191 cases of oocyte donation had been performed to result in 25.0% of live birth rate. Meanwhile, a total of 5,619 cases of frozen embryo replacement had been performed with 33.7% of clinical pregnancy rate per cycle with embryo transfer. When comparing with international registry data, clinical pregnancy rate per transfer from fresh IVF cycles including ICSI (34.1%,) was comparable to clinical pregnancy rate per transfer in European Society for Human Reproduction and Embryology report was 32.5% though lower than 45.0% for USA data. There was no remarkable difference in status of assisted reproductive technology in Korea between the current report and the data reported in 2008. The age of women trying to get pregnant was reconfirmed to be the most important factor that may have impact on success of ART treatment.
Electronic Mail ; Embryo Transfer ; Female ; Fertility ; Fertilization in Vitro ; Humans ; Korea* ; Live Birth ; Oocyte Donation ; Oocyte Retrieval ; Pregnancy ; Pregnancy Rate ; Pregnancy, Twin ; Reproduction ; Reproductive Techniques ; Reproductive Techniques, Assisted* ; Sperm Injections, Intracytoplasmic

A beneficial radioprotective agent has been used to treat the radiation-induced lung injury. This study was performed to investigate whether curcumin, which is known to have anti-inflammatory and antioxidant properties, could ameliorate radiation-induced pulmonary inflammation and fibrosis in irradiated lungs. Rats were given daily doses of intragastric curcumin (200 mg/kg) prior to a single irradiation and for 8 weeks after radiation. Histopathologic findings demonstrated that macrophage accumulation, interstitial edema, alveolar septal thickness, perivascular fibrosis, and collapse in radiation-treated lungs were inhibited by curcumin administration. Radiation-induced transforming growth factor-beta1 (TGF-beta1), connective tissue growth factor (CTGF) expression, and collagen accumulation were also inhibited by curcumin. Moreover, western blot analysis revealed that curcumin lowered radiation-induced increases of tumor necrosis factor-alpha (TNF-alpha), TNF receptor 1 (TNFR1), and cyclooxygenase-2 (COX-2). Curcumin also inhibited the nuclear translocation of nuclear factor-kappa B (NF-kappaB) p65 in radiation-treated lungs. These results indicate that long-term curcumin administration may reduce lung inflammation and fibrosis caused by radiation treatment.
Animals ; Blotting, Western ; Collagen ; Connective Tissue Growth Factor ; Curcumin ; Cyclooxygenase 2 ; Edema ; Fibrosis ; Inflammation ; Lung ; Lung Injury ; Macrophages ; Pneumonia ; Rats ; Receptors, Tumor Necrosis Factor ; Tumor Necrosis Factor-alpha

PURPOSE: The purpose of this study was to review studies that have examined the quality of life of women with urinary incontinence. MATERIALS AND METHODS: A review was conducted that used the databases PubMED, Proquest, CINAHL, and Sciencedirect. Articles were included that were published in English between 2005 and 2010 the key words use were urinary incontinence, women, and quality of life. RESULTS: A total of 18 studies were identified, and the prevalence of urinary incontinence varied depending on the definition of incontinence used and the age of the population studied. The Incontinence Quality of Life (I-QoL), Incontinence Impact Questionnaire-short form (IIQ-7), and King's Health Questionnaire (KHQ) were the most commonly used instruments. Demographic, medical, physical, psychological, health, and intervention factors were reported as influencing factors on the quality of life of women with incontinence. Age, severity of urinary incontinence, type of urinary incontinence, number of urinary incontinence episodes, body weight, stress, and help-seeking behavior were statistically significant variables influencing quality of life. CONCLUSION: Future studies are needed to identify factors related to quality of life among women with incontinence and to use validated instruments according to specific subjects.
Body Weight ; Female ; Humans ; Prevalence ; Quality of Life ; Urinary Incontinence