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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
박혜원,곽병옥,김구환,유한욱,정소정 대한소아내분비학회 2013 Annals of Pediatirc Endocrinology & Metabolism Vol.18 No.1
Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis in the adrenal gland. Twin sisters (A,B) with normal 46, XX were born at 36+2 gestational week, premature to nonrelated parents. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium. Laboratory finding revealed normal 17-hydroxyprogesterone level, elevated adrenocorticotropin hormone (A, 4,379.2 pg/mL; B, 11,616.1 pg/mL), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng mL/hr). However, the level of plasma cortisol before treatment was low (1.5 μg/dL) in patient B but normal (8.71 μg/dL) in patient A. Among them, only patient A was presented with adrenal insufficiency symptoms which was suggestive of CLAH and prompted us to order a gene analysis in both twin. The results of gene analysis of StAR in twin revealed same heterozygous conditions for c.544C>T (Arg182Cys) in exon 5 and c.722C>T (Gln258*) in exon 7. We report the first case on the mutation of p.R182C in exon 5 of the StAR gene in Korea.
박혜원 창원대학교 생활과학연구소 1997 생활과학연구 Vol.- No.1
The purpose of this study is to present young casual fashion design for '98 A/W based on the trend of '97 in domestic market. Although the economic depression, young casual fashion business shows a prosperous condition. It means young group is a leader of our fashion consumer and fashion planners have to know their needs. The young casual fashion trend of '97 represented borderless and genderless sytles. Through the cross coordination items, long and slim silhouettes put emphasis on modern technical and retro images. The main fabrics are stretching and coating materials such as synthetic fiber, cotton, wool jersey, and leathers. Stripes and florals patterns are used. The trendy colors are khaki, blue, orange based on monochrome. As the result of above, six designs are represented for '98 A/W. Using of grayish moderate and dull tone, fitted tops, stright pants, wide jeans, micro-mini skirts and leather suits. These items can be cross-over coordinated each other. The charecteristics of young fashion have shown their fashion consciousness as like self consiousness, independent action, sensitive attitude of fashion trends.
TFT-LCD 제조라인에서의 자재취급요청 주도형 생산 시뮬레이션 모형
박혜원,박선영,신문수 대한산업공학회 2015 대한산업공학회 춘계학술대회논문집 Vol.2015 No.4
The up-to-date market dynamics make effective production simulation pose greate challenges to the TFT-LCD industry. However, existing approaches to production simulation for TFT-LCD fabs have certain limitations resulting from restrictive implementation of material handling processes, even though dynamic material handling flow occasionally causes a bottleneck of production. To build an effective production simulation model, dynamic material handling flows should be incorporated into the simulation model. This paper proposes a material handling request-driven production simulation model for a TFT-LCD fab that implements dynamic material handling behavior. The simulation model conforms to a discrete event simulation framework and it is driven by material handling request events thrown by processing equipments. In this paper, a reference model for the material handling behavior and an event graph-based behavior model, that emulates push and pull flows of parts simultaneously, are also presented.