• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.432-436
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• 2010

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200-00 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.87-91
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• 2016

Pierre Robin syndrome (PRS) is characterized by the triad of congenital mandibular hypoplasia, glossoptosis and cleft palate. Infant PRS patients are frequently suffering from upper airway obstruction, gastroesophageal reflux and growth retardation caused by above mentioned problems. We report a dental caries treatment of 3-year old girl with Pierre Robin syndrome with multiple caries. The cause of multiple caries was mainly presumed as patient's eating habit caused by her general condition. She had some feeding problems and had history of gastric tube. She was still using milk bottle and took more than an hour to finish a meal. The treatment was performed under general anesthesia considering patient's condition; mild autism, poor cooperation and respiratory problem due to micrognathia. Severely affected upper incisors were treated with pulp treatment and restored with zirconia crown for esthetic purpose. Lower incisors were treated with pulp treatment and restored with composite resin. Upper right first primary molar was restored with stainless steel crown and other primary molars were treated with composite resin. There were no postoperative complications. According to her parents, the patient's compliance to oral hygiene management was greatly improved after the treatment since she was very pleased with the esthetic result and highly motivated by her looks. The treatment without sedation or general anesthesia would be possible once the airway is improved as the mandible grows.

• Korean Journal of Agricultural Science
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• v.19 no.2
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• pp.161-169
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• 1992

Studies were conducted to examine the effects of single or combined treatment of uniconazole [(E)-1-(4-chlorophenyl)-4, 4-dimethyl 2(1, 2,-4-triazol-1-yl)-1-penten-3-ol)] and silver thiosulfate (STS) on reducing ozone injury to snap beans (Phaseolus vulgaris L. 'Strike'). Two weeks after seeding, plants were given a soil drench of uniconazole(XE-1019) solution at concentrations of 0.001, 0.005 and 0.025 mg/pot, and then two days prior to ozone fumigation, 0.3 and 0.6 mM STS containing 0.01% Tween-20 were also sprayed. Uniconazole was effective in providing protection against ozone injury through increase activities of free radical scavengers such as superoxide dismutase (SOD) and peroxidase (POD) as well as the increase of chlorophyll content and stomatal resistance resulted from plant growth retardation. The phytoprotective effects of STS seemed to be related to its properly of blocking the ethylene action and increasing activities of SOD and POD. Even at low concentrations, a combined treatment with uniconazole drench, STS spray significantly reduced ozone injury compared to single application.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.2
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• pp.178-184
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• 1999

Purpose: The aims of this study were to evaluate the clinical manifestations and prognosis of the syndromic and nonsyndromic intrahepatic bile duct paucity (IHBDP). Methods: We studied histology of 42 infants with neonatal cholestasis. Fourteen patients were diagnosed as IHBDP. We evaluated the clinical manifestations, courses and prognosis retrospectively. Results: Underlying disease of the 42 infants with neonatal cholestasis were biliary atresia in 23, intrahepatic bile duct paucity in 14 (Alagille syndrome in 4 and nonsyndromic IHBDP in 10), neonatal hepatitis in 5 infants. The mean ratio of the bile ducts per portal tract was 0.087 (range: 0~0.5). The manifestations in 4 patients with Alagille syndrome demonstrated as follows: characteristic face in 3, chronic cholestasis in 4, posterior embryotoxon in 2, vertebral anomalies in 2, peripheral pulmonary stenosis in 2. One of 4 patients of Alagille syndrome improved cholestasis and the other 3 patients were remained their cholestasis and growth retardation. All patients of the nonsyndromic IHBDP were idiopathic. Seven out of 8 patients of nonsyndromic IHBDP showed improvement of cholestasis, and one patient received liver transplantation due to cirrhosis. Conclusion: This study suggested that IHBDP should be considered in the differential diagnosis of neonatal cholestasis. The outcome of idiopathic IHBDP was better than predicted.

• Molecules and Cells
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• v.37 no.1
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• pp.74-80
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• 2014

The peroxisome is an intracellular organelle that responds dynamically to environmental changes. Various model organisms have been used to study the roles of peroxisomal proteins in maintaining cellular homeostasis. By taking advantage of the zebrafish model whose early stage of embryogenesis is dependent on yolk components, we examined the developmental roles of the D-bifunctional protein (Dbp), an essential enzyme in the peroxisomal ${\beta}$-oxidation. The knockdown of dbp in zebrafish phenocopied clinical manifestations of its deficiency in human, including defective craniofacial morphogenesis, growth retardation, and abnormal neuronal development. Overexpression of murine Dbp rescued the morphological phenotypes induced by dbp knockdown, indicative of conserved roles of Dbp during zebrafish and mammalian development. Knockdown of dbp impaired normal development of blood, blood vessels, and most strikingly, endoderm-derived organs including the liver and pancreas - a phenotype not reported elsewhere in connection with peroxisome dysfunction. Taken together, our results demonstrate for the first time that zebrafish might be a useful model animal to study the role of peroxisomes during vertebrate development.

• Journal of fish pathology
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• v.31 no.2
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• pp.115-122
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• 2018

The Houttuynia cordata has been utilized for various beneficial purposes in humans mainly because of its potent antioxidant principle quercitrin present in this plant. This study examines the possibility of producing a functional sea food commodity containing active principle quercitrin by feeding H. cordata for a extended period. Spotted sea bass (Lateolabrax maculatus) were fed a diet containing H. cordata at 0.1-1.0% levels for 1 month and tissue concentrations of quercitrin were analyzed in serum, hepatopancreas and muscle. It was observed that quercitrin was found in the ranking order of hepatopancreas>muscle>serum. After a bolus administration of quercitrin (20 mg/kg, oral) to spotted sea bass and Nile tilapia (Oreochromis niloticus), idential rank order was observed after 48 hr. In contrast, the order was liver>serum>muscle in rat and mice, indicating that higher quercitrin distribution occurs to the muscle in fishes compared with in mammals tested. High residue concentration of qeurcitrin in the edible tissue can be an advantageous property in terms of functional food production. High level H. cordata extract inclusion of 1.0% seems to have detrimental effects in spotted sea bass leading to growth retardation and hepatic damage. It was concluded that incorporation of H. cordata extract into diet can be a way of producing healthy foods. However the level of active extract needs fine tuning to avoid toxicity to fishes.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.65-69
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• 2019

Wolf-Hirschhorn syndrome(WHS) is a congenital disorder caused by deletions of the short arm of chromosome 4. The most common characteristics are mental and growth retardation, dietary disorder and craniofacial features with a characteristic 'Greek warrior helmet' appearance. The dental characteristic of WHS includes delayed development, tooth agenesis, clefts, microdontia, taurodontism, and severely worn dentition. The purpose of this case report is to describe the dental treatment of a patient with WHS. 3-year-old boy with WHS visited the Seoul National University Dental Hospital for dental treatment. He had difficulty with nasotracheal intubation because of craniofacial anomalies and also had poor oral hygiene due to a limitation of mouth opening and dietary disorder. Due to his airway problem, behavior management and severity of dental conditions, dental treatment was performed under general anesthesia. This case suggests general anesthesia can be chosen with WolfHirschhorn syndrome patients to safely care for their dental problems.

• Journal of Ginseng Research
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• v.45 no.4
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• pp.482-489
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• 2021

Background: Asthma is an incurable hyper-responsive disease of the pulmonary system that is caused by various allergens, including indoor and outdoor stimulators. According to the Global Asthma Network, 339 million people suffered from asthma in 2018, with particularly severe forms in children. Numerous treatments for asthma are available; however, they are frequently associated with adverse effects such as growth retardation, neurological disorders (e.g., catatonia, poor concentration, and insomnia), and physiological disorders (e.g., immunosuppression, hypertension, hyperglycemia, and osteoporosis). Methods: Korean Red Ginseng has long been used to treat numerous diseases in many countries, and we investigated the anti-asthmatic effects and mechanisms of action of Korean Red Ginseng. Eighty-four BALB/c mice were assigned to 6 treatment groups: control, ovalbumin-induced asthma group, dexamethasone treatment group, and 3 groups treated with Korean Red Ginseng water extract (KRGWE) at 5, 25, or 50 mg/kg/day for 5 days. Anti-asthmatic effects of KRGWE were assessed based on biological changes, such as white blood cell counts and differential counts in the bronchoalveolar lavage fluid, serum IgE levels, and histopathological changes in the lungs, and by examining anti-asthmatic mechanisms, such as the cytokines associated with Th1, Th2, and Treg cells and inflammation pathways. Results: KRGWE affected ovalbumin-induced changes, such as increased white blood cell counts, increased IgE levels, and morphological changes (mucous hypersecretion, epithelial cell hyperplasia, inflammatory cell infiltration) by downregulating cytokines such as IL-12, IL-4, and IL-6 via GATA-3 inactivation and suppression of inflammation via NF-κB/COX-2 and PGE₂ pathways. Conclusion: KRGWE is a promising drug for asthma treatment.

• Animal Bioscience
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• v.36 no.1
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• pp.29-42
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• 2023

Objective: Pigs, an ideal biomedical model for human diseases, suffer from about 50% early embryonic and fetal death, a major cause of fertility loss worldwide. However, identifying the causal variant remains a huge challenge. This study aimed to detect single nucleotide polymorphisms (SNPs) and candidate genes for the number of mummified (NM) piglets using the imputed whole-genome sequence (WGS) and validate the potential candidate genes. Methods: The imputed WGS was introduced from genotyping-by-sequencing (GBS) using a multi-breed reference population. We performed genome-wide association studies (GWAS) for NM piglets at birth from a Landrace pig populatiGWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase on. A total of 300 Landrace pigs were genotyped by GBS. The whole-genome variants were imputed, and 4,252,858 SNPs were obtained. Various molecular experiments were conducted to determine how the genes affected NM in pigs. Results: A strong GWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase 8 (CDK8) gene, which plays a crucial role in embryonic retardation and lethality. Based on the molecular experiments, we found that Y-box binding protein 1 (YBX1) was a crucial transcription factor for CDK8, which mediated the effect of CDK8 in the proliferation of porcine ovarian granulosa cells via transforming growth factor beta/small mother against decapentaplegic signaling pathway, and, as a consequence, affected embryo quality, indicating that this pathway may be contributing to mummified fetal in pigs. Conclusion: A powerful imputation-based association study was performed to identify genes associated with NM in pigs. CDK8 was suggested as a functional gene for the proliferation of porcine ovarian granulosa cells, but further studies are required to determine causative mutations and the effect of loci on NM in pigs.

• Journal of Life Science
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• v.33 no.6
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• pp.490-497
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• 2023

Pregnant women may need to take medications to treat preexisting diseases or diseases that develop during pregnancy. However, some drugs may be fetotoxic and lead to, for example, teratogenicity and growth retardation. Predicting the fetotoxicity of drugs is thus important for the health of the mother and fetus. The fetotoxicity of many drugs has not been established because various challenges hinder the ability of researchers to determine their fetotoxicity. The need exists for in silico-based fetotoxicity assessment models, as they can modernize the testing paradigm, improve predictability, and reduce the use of animals and the costs of fetotoxicity testing. In this study, we collected data on the fetotoxicity of drugs and constructed fetotoxicity prediction models based on various machine learning algorithms. We optimized the models for more precise predictions by tuning the hyperparameters. We then performed quantitative performance evaluations. The results indicated that the constructed machine learning-based models had high performance (AUROC >0.85, AUPR >0.9) in fetotoxicity prediction. We also analyzed the feature importance of our model's predictions, which could be leveraged to identify the specific features of drugs that are strongly associated with fetotoxicity. The proposed model can be used to prescreen drugs and drug candidates at a lower cost and in less time. It provides a predictive score for fetotoxicity risk, which may be beneficial in the design of studies on fetotoxicity in human pregnancy.