• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.6
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• pp.518-527
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• 2021

Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

• Horticultural Science & Technology
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• v.32 no.2
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• pp.184-192
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• 2014

Various types of unit packaging methods were applied for 'Fuji' apples during short-term cold storage and export simulation. Gas tightness of the package was controlled stepwise in the successive two-year experiments using different perforation treatments (none, punch hole, or pinhole) and sealing methods (tie v s. heat seal). Risk of tight packaging and effectiveness of macroperforation on weight loss and quality maintenance were analyzed as related to changes in gas concentration inside the packages. Immediately after harvest, each 5 apple units were packaged in $40{\mu}m$ polypropylene (PP) film bags, stored 4 weeks at $0^{\circ}C$, and then put on the shelf for one week at ambient temperature in the preliminary experiment, In the main experiment, export process was imposed after storage simulating 2 week refrigerated container shipment at $0^{\circ}C$ plus one week local marketing at ambient temperature. Non-perforated film packaging with relatively high gas tightness induced flesh browning caused by carbon dioxide accumulation regardless of the sealing methods. Among perforated film packaging, in contrast, atmospheric modification was partly established only in the pinhole treatment and flesh browning symptom was not observed in all the treatments. Even the punch hole perforated film packaging without gas tightness effectively reduced the weight loss, whereas had slight benefits for quality maintenance. Reduced perforation using pinhole treatment seemed to improve sensory texture, while effects on physicochemical quality were insignificant. Overall results suggest the need of more minute perforation treatments on the packaging film to ensure modified atmosphere effects on quality maintenance.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.15-23
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• 2006

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

• The Journal of the Korea institute of electronic communication sciences
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• v.13 no.3
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• pp.661-668
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• 2018

Biomedical signals using skin resistance have different characteristics according to stress diseases. Biological diagnostic devices for diagnosing stress diseases have been developed by using these characteristics, and devices have been developed so that the signals measured by the skin storage meter can be easily analyzed. Experts in the field will look directly at the output signal to determine the likelihood of any stress disorder. However, it is very difficult for a person to accurately determine whether a person to be measured has a stress disorder by analyzing a bio-signal measured by each person to be measured, and the result of the judgment is very likely to be wrong. In order to solve these problems, we implemented the function of determining the signal of a stress disorder by using the machine learning technique. SVM was used as a classification method in consideration of low computing ability of measurement equipment. Training data and test data were randomly generated for each disease using error range 5 based on 13 diseases. Simulation results showed more than 90% decision accuracy. In the future, if the measurement equipment is actually applied to the patients, we can retrain the classifier with the newly generated data.

• Korean Journal of Organic Agriculture
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• v.18 no.3
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• pp.377-386
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• 2010

Sweet persimmon, 'Fuyu', is the major cultivar for MA storage, but browning of blossom end part and fruit surface darkening occur during storage and decrease fruit qualities in fresh fruit market. Calcium (Ca) has a very important role in cell membrane and reduces Ca-related fruit disorder. Therefore, this study was conducted to investigate the effect of soluble Ca fertigation and foliar applications on soil chemical properties, root activity, and leaf nutrient status. Ca concentration in the soil was higher in both Ca fertigation (Ca-FG) and Ca+IBA fertigation (Ca+IBA) treatments than the other treatments, such as control (Cont), Ca foliar application (Ca-FA), and IBA fertigation (IBA). The increase in soil Ca improved soil pH. The Ca+IBA treatment increased root activity. Leaf Ca concentration was significantly increased by the CA-F A application, followed by Ca+IBA, and Ca-FG treatments.

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.26-36
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• 2018

Mucopolysaccharidosis IIIA is a heritable neurodegenerative disorder resulting from the dysfunction of the lysosomal hydrolase sulphamidase. This leads to the primary accumulation of the complex carbohydrate heparan sulphate in a wide range of tissues and CNS degeneration. Characterization of animal model is the beginning point of the therapeutic clinical trial. Mouse model has a limitation in that it is not a human and does not have all of the disease phenotypes. Therefore, delineate of the phenotypic characteristics of MPS IIIA mouse model prerequisite for the enzyme replace treatment for the diseases. We designed 6-month duration of phenotypic characterization of MPS IIIA mouse biochemically, behaviorally and histologically. We compared height and weight of MPS IIIA mouse with wild type from 4 weeks to 6 months in both male and female. At 6 months, we measured GAG storage in urine kidney, heart, liver, lung and spleen. The brain GAG storage is presented with Alcian blue staining, immunohistochemistry, and electron-microscopy. The neurologic phenotype is evaluated by brain MRI and behavioral study including open field test, fear conditioning, T-maze test and Y-maze test. Especially behavioral tests were done serially at 4month and 6month. This study will show the result of the MPS IIIA mouse model phenotypic characterization. The MPS IIIA mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy.

• Korean Journal of Veterinary Service
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• v.40 no.2
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• pp.119-131
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• 2017

Among different types of spoilage, microbial contamination can cause feed decomposition, which results in decreases in feed intake and productivity, infection, and breeding disorder. During the storage time, various microbes have a chance to inoculate with depreciation of feed and to infect the animals. We investigated bacteria that inhabit diverse feed ingredients and complete feed which have been stored for a few months. We isolated and identified 30 genera and 62 species of bacteria. Among these 62 species, 21 species were of non-pathogenic bacteria, 18 species were of pathogenic bacteria, 9 species were of opportunistic pathogens, and 14 species were of unknown bacteria. Pantoea allii and 24 species showed proteolytic enzyme activity. We also confirmed that 6 species including Pseudomonas psychrotolerans showed ${\alpha}$-amylase activity, and 29 species including Burkholderia vietnamiensis showed cellulase activity. Microbacterium testaceum and 3 species showed resistance to Ampicillin, Kanamycin, Streptomycin, Gentamicin, Carbenicillin, and Erythromycin ($50{\mu}g/mL$). Using mealworm larvae (Tenebrio molitor L.) as a model for pathogenicity, we confirmed that 8 species including Staphylococcus xylosus had pathogenicity for mealworm larvae. Especially, Enterobacter hormaechei, Staphylococcus xylosus, and Staphylococcus hominis were reported as being pathogenic for humans. This research suggests that hygienic management of animal feed is essential because beneficial and harmful bacteria can inhabit animal feed differently during storage and distribution.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.28-33
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• 2018

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.17-21
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• 2021

Hunter syndrome or mucopolysaccharidosis type II (MPS-II) (OMIM 309900) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulfatase. This enzyme is responsible for the catabolism of the following two different glycosaminoglycans (GAGs): dermatan sulfate and heparan sulfate. The lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. Patients can be broadly classified as having one of the following two forms of MPS II: a severe form and an attenuated form. In the severe form of the disease, signs and symptoms (including neurological impairment) develop in early childhood, whereas in the attenuated form, signs and symptoms develop in adolescence or early adulthood, and patients do not experience significant cognitive impairment. The involvement of the skeletal-muscle system is because of essential accumulated GAGs in joints and connective tissue. MPS II has many clinical features and includes two recognized clinical entities (mild and severe) that represent two ends of a wide spectrum of clinical severities. However, enzyme replacement therapy is likely to have only a limited impact on bone and joint disease based on the results of MPS II studies. The aim of this study was to review the involvement of joints in MPS II.

• The Korean Journal of Physiology and Pharmacology
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• v.27 no.3
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• pp.231-240
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• 2023

Fabry disease is a lysosomal storage disorder characterized by the lysosomal accumulations of glycosphingolipids in a variety of cytotypes, which include endothelial cells. The disease is inherited and originates from an error in glycosphingolipid catabolism caused by insufficient α-galactosidase A activity, which causes uncontrolled progressive storage of intracellular globotriaosylceramide (Gb3) in the vasculature and extracellular accumulation of lyso-Gb3 (a deacetylated soluble form of Gb3). Necrosis can lead to inflammation, which exacerbates necrosis and creates a positive feedback loop that triggers necroinflammation. However, the role played by necroptosis, a form of programmed necrotic cell death, in the cell-to-cell inflammatory reaction between epithelial and endothelial cells is unclear. Thus, the present study was undertaken to determine whether lyso-Gb3 induces necroptosis and whether necroptosis inhibition protects endothelial dysfunction against lyso-Gb3 inflamed retinal pigment epithelial cells. We found lyso-Gb3 induced necroptosis of a retinal pigment epithelial cell line (ARPE-19) in an autophagy-dependent manner and that conditioned media (CM) from ARPE-19 cells treated with lyso-Gb3 induced the necroptosis, inflammation, and senescence of human umbilical vein endothelial cells. In addition, a pharmacological study showed CM from lyso-Gb3 treated ARPE-19 cells induced endothelial necroptosis, inflammation, and senescence were significantly inhibited by an autophagy inhibitor (3-MA) and by two necroptosis inhibitors (necrostatin and GSK-872), respectively. These results demonstrate lyso-Gb3 induces necroptosis via autophagy and suggest that lyso-Gb3 inflamed retinal pigment epithelial cells trigger endothelial dysfunction via the autophagy-dependent necroptosis pathway. This study suggests the involvement of a novel autophagy-dependent necroptosis pathway in the regulation of endothelial dysfunction in Fabry disease.