• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.40-43
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Korean Journal of Social Welfare
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• v.56 no.1
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• pp.181-201
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• 2004

It has been said that there were many problems in a social welfare institution. Community welfare in Japan is being presented as an alternative solving these problems and underlying theories are deinstitutionalization, normalization, and community care. Recently, in Korea, these alternatives are connected with the logic that social welfare institutions are useless. But if we think the inborn duty of the social welfare institution, we can know the logic problem of these theories. Also, 'the socialization theory of social welfare institutions' has been presented as a solving method. But studies in Korea are having a partiality only to opening to community and are researched separately from community welfare. Under these problem perceptions, this study examined the construction contents of the community welfare in Japan, the relation of community welfare and social welfare institutions, the relation of the community welfare and the socialization theory of social welfare institutions, and the concept and content of the socialization theory of social welfare institutions. This study investigated the discussions in Japan, for studies in Korea are generally based on those of Japan and the domestic community welfare policy has been influenced immensely by Japan. The result of this study is as follows. Firstly, not the social welfare institution in a category of community welfare is excluded, but is prescribed as an essential post, a premise condition, and a composition post of the community welfare. Secondly, the socialization theory of social welfare institutions is also discussed in a category of the community welfare and in the side of community welfare development. Thirdly, the socialization theory of social welfare institutions is presented in the side of not only opening to community, but also a basic practice theory of the social welfare institution reformation including that.

• Sijohaknonchong
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• v.19 no.1
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• pp.207-234
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• 2003

The purpose of this research paper is to study the characteristics of Huang Yunseok's sijo and it's implications for his poetic intentions. Huang Yunseok's sijo is didactic in its presentation of facts and ethical lessons. The two main facts it presents are royal favors and his clan's pride. Royal favors concern. for example, encouragement of the king, the king's birthday and deathday, and securing a government position by the king's order. His clan's pride concerns, for example, the geographically wonderful place of Huang Yunseok's ancestor's tomb, his ancestor's great conduct, his clan's beautiful tradition, his birth place, and his birth dream. The main content of the ethical lessons concerns cultivation of the human mind and practicing Confucian ethics. Examples of the former describe the purpose of Confucian study, the ethical doctrine that human being's inborn nature is good, the character of the human mind, and the method of cultivating the human mind. Examples of the latter describe the moral rules to govern the Five Human Relations, separation between husband and wife, and discrimination between males and females. The poetic intention of Huang Yunseok's sip consists of political and economic self-promotion and theoretical devotion to Confucian ideology. Proud of his educated, high Confucian clan, he tries to get self-promotion politically and economically by vowing loyalty to the king. He implies devotion to the Confucian ideology through his description of the practice of the Confucian moral rules, the clinging to traditional Neo-Confucianism, and his insistence on the Neo-Confucian theory that all human beings and animals are the same in their original nature. In conclusion, the didactic character of Huang Yunseok's sip stems from his intention to promote himself politically and economically and his theoretical devotion to Confucian ideology. The way of indicative expression originates from the didactic character of Huang Yunseok's sijo.

• Neonatal Medicine
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• v.15 no.1
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• pp.22-31
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• 2008

Purpose : Bronchopulmonary dysplasia (BPD) is characterized by arrested vascular and alveolar growth in the premature lung. Considering the consequences of arrested lung growth, the idea of administering bone marrow cells to enhance the inborn repair mechanism is promising as this may reduce the morbidity and mortality of BPD. We followed enhanced green fluorescent protein (EGFP)-labeled bone marrow cells (BMC) injected intraperitoneally into non-EGFP mice in order to determine their fate after transplantation. Methods : An angiogenesis inhibitor, SU1498, was injected subcutaneously on day 3 in non-EGFP C57BL/6 newborn mice to create a model of arrested alveolar development. On the following day, $1{\times}10^6$ BMCs isolated from major histocompatibility complex (MHC)- matched syngenic EGFP mice were injected intraperitoneally to non-EGFP BPD mice. Morphometric analysis, immunostaining, and confocal microscopy were performed to determine the fate of EGFP-positive stem cells in the injured lung. Results : SU1498 injection reduced alveolar surface area and mean alveolar volume in newborn mice. BMC injection resulted in recovery of lung structure comparable to controls. EGFP-positive BMCs were identified in the lungs of the recipient mice after intraperitoneal injection. The injected EGFP cells were co-stained with endothelial and epithelial cells of the developing lung as determined by confocal microscopy. Conclusion : Our results illustrated that EGFP-positive BMCs engrafted and trans-differentiated into epithelial and endothelial cells after intraperitoneal injection in a mouse model of arrested alveolar development.

• Journal of Korean Philosophical Society
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• v.126
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• pp.79-108
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• 2013

Is the development of linguistic competence due to the learning process or the maturational process? According to Piaget, its development is a genuine learning process involving authentic constructions with gradual disclosure of new possibilities. But According to Chomsky, the acquisition of linguistic competence is due to a genetically conditioned maturational process. So it merely involves the actualization of a set of possibilities existing from the beginning Consequently, Piaget supposes that interaction with the environment plays a shaping role, while Chomsky allows it to have a mere triggering role. In broad respective, Chomsky supposes the rationalism that knowledge is largely inborn, while Piaget in the constructivist position which strives to find a middle course between radical rationalism and radical empiricism. In the one hand, an ultra-rationalistic concept such as 'fixed nucleus' supposed by Chomsky is, in my eye, nor plausible. In the other hand, if Piagetian constructivism is to be sustained, it must be sustained independently of its dubious biological fundament, and merely as a developmental psychological theory. In one word, we need to synthesize Piagetian cognitive approach and Chomskian syntactical, in order to explain exactly the source of human linguistic competence.

• Journal of Korean Philosophical Society
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• v.144
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• pp.339-369
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• 2017

Mengzi's biological analogies of man's moral tendency need to be analyzed in order to understand his ethical perspective because he uses lots of analogies to advocate his own moral naturalism. The biological analogies he uses are composed of human body, plant's seeds and sprouts. First, Mengzi thinks that human beings have inborn moral nature as if our bodies are given and plants can be grown from their seeds. His ethical approach to define morality in terms of natural properties such as the Four Sprouts(四端) causes a philosophical debate with Gaozi who thinks that morality cannot be described by natural property. Second, we have a moral preference as if we have a physical desire. This kind of moral sentimentalism emphasizing the preference is continued to Jeong Yakyong's ethical theory that nature is a preference(性嗜好說). Third, if we examine our preference and desire, then we can find that the moral preference is more valuable than the physical desire. Fourth, the biological analogies accepts monism that mind and body are composed of material force(氣). For this reason, the innate moral tendency is manifested on body such as a facial expression, a visceral reaction, and affect. Finally, Mengzi's theory of Four Sprouts causes two different interpretation. One is Zhuxi's interpretation that Duan端 is the visible end(緖) of a thread out of pack, the other is Jeong Yakyong's interpretation that Duan端 is a starting point(始) to cultivate virtues. While Zhuxi considers the Four Sprouts as a clue to find virtues in one's mind, Jeong Yakyong believes that we can cultivate our virtues by preserving the Four Sprouts.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.55-61
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• 2018

Orinithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle with resulting hyperammonemia, which is medical emergency in newborns.We recently had a case of a boy that presented with lethargy, seizure, hyperammonemia and hypocalcemia in neonatal period. He was diagnosed with OTC deficiency by two consequent ways which are initial biochemical phenotype including hyperammonemia and an increased orotic acid in his urine and genetic analysis of the OTC gene. The OTC gene showed a novel hemizygous mutation c.913C>T (p.Pro305Ser). He was treated by low protein intake, sodium benzoate, phenylbutyrate sodium, L-arginine, and continuous renal replacement therapy (CRRT). After discharge, he has a relatively good prognosis without notable developmental delay. For good prognosis, the duration of hyperammonemia should be shorten. And it can be reached by an early diagnosis. For early detection of OTC deficiency, targeted exome sequencing will be a important role as well as biochemical tests.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.37-43
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• 2020

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase (PAH) gene. If untreated or late treated, results in profound and irreversible mental disability. Newborn screening test identify patients with phenylketouria. The early initiation of a phenylalanine restricted diet very soon prevents most of the neuropsychiatric complications. However, the diet therapy is difficult to maintain and compliance is poor, especially in adolescents and adulthood. Since 2015, American Medical College of Medical Genetics and Genomics (ACMG) recommended more strong restrictive diet therapy for target blood level of phenylalanine (<360 umol/L). For over four decades the only treatment was a very restrictive low phenylalanine diet. This changed in 2007 with the approval of cofactor therapy (Tetrahydrobiopterin, BH4) which is effective in up to 30% of patients. Data from controlled clinical trials with sapropterin dihydrochloride indicate a similar occurrence of all-cause adverse events with this treatment and placebo. Large neutral aminoacids (LNAA) competes with phenylalanine for transport across the blood-brain-barrier and have a beneficial effect on executive functioning. A new therapy has just been approved that can be effective in most patients with PAH deficiency regardless of their degree of enzyme deficiency or the severity of their phenotype. Phenylalanine ammonia lyase (PAL-PEG) was approved in the USA by FDA in May of 2018 for adult patients with uncontrolled blood phenylalanine concentrations on current treatment. Nucleic acid therapy (therapeutic mRNA or gene therapy) is likely to provide longer term solutions with few side effects.

• The Journal of Korean Philosophical History
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• no.25
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• pp.167-196
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• 2009

Youlgok's thoughts on mind are represented both in his one-road theory of mind, nature, emotion and will and in his one-way theory of Li riding on a dynamic Ki. The one-road theory has two meanings. First, it means that mind, nature, emotion and will are not separate things, but those three things other than mind belong to mind, which only different phases of mind. Second, it means that human desire and moral will, inborn nature and dispositional nature, four clues and seven emotions are not sets of mind opposing each other forever, but sets of mind which can be sublated in the end. The one-way theory of Li riding on a dynamic Ki explains the relation of mind and nature in terms of Li and Ki. In Youlgok's theory, Ki(mind) is the subject of operating dynamics and Li(nature) is the content of operated results. Nature appeared through operating mind is emotion. Li riding on a dynamic Ki means both that Li superintends Ki(operates Ki's standard), and that it realizes itself through Ki. In a word, mind is the subject realizing nature, and mind operates under the control of nature. In this way, Youlgok pays attention on both Li's norm and Ki's dynamic.