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박혜원,현정원,박성섭,박명희,송은영 대한진단검사의학회 2011 Annals of Laboratory Medicine Vol.31 No.4
Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes are located, can give rise to false homozygosity results in HLA genotyping of patients with hematologic malignancies. Here we report false homozygosity results in HLA genotyping due to the loss of whole chromosome 6 in the neoplastic cells of a patient with ALL. A 33-yr-old Korean female patient was admitted for the evaluation of leukocytosis detected during a workup for headache. Her initial white blood cell count was 336.9×10^9/L with 84% of blasts in the differential count. Precursor-B lymphoblastic leukemia was diagnosed from a subsequent bone marrow study. HLA high-resolution genotyping of the patient was requested at the time of diagnosis for possible hematopoietic stem cell transplantation. Homozygosity results (A*02:01, B*54:01, C*08:01, DQB1*04:01) were obtained, except for the DRB1 locus (DRB1*04:05, DRB1*11:01), in sequence-based typing. Conventional karyotyping of bone marrow metaphase cells revealed chromosomal abnormalities, with loss of multiple chromosomes including chromosome 6, and reduplication of the remaining chromosomes: 29,X,+X,+8,inv(9)(p11q13),+10,+14,+18,+21[15]/58,idemX2[3]/46,XX,inv(9)[2]. LOH at the HLA region was suspected and HLA genotyping was repeated with the peripheral blood in remission state after induction chemotherapy. All 5 HLA loci were typed as heterozygous (A*02:01, A*02:06, B*40:01, B*54:01, C*03:04, C*08:01, DRB1*04:05, DRB1*11:01, DQB1*03:01, DQB1*04:01). To avoid false HLA typing results in patients with hematologic malignancies, clinicians, as well as laboratory personnel, need to be aware of such problems and take appropriate precautions.
박혜원,유하영,김철현,김혜진,곽병옥,김교순,정소정 연세대학교의과대학 2015 Yonsei medical journal Vol.56 No.1
Purpose: An increase in the prevalence of obesity has been observed in children and adolescents. As remarkable changes in body composition occur with growth during the adolescent period, it is important that changes in body composition be monitored. The purpose of this study was to propose reference percentile values for body composition indices including body mass index (BMI) in children and adolescents in Korea. Materials and Methods: This study was performed using data from the Fourth and Fifth Korea National Health and Nutrition Examination Surveys. Body composition data were obtained using dual-energy X-ray absorptiometry. The percentile curves of body composition indices were constructed by the LMS method. Results: A total of 2123 children and adolescents between the ages of 10 and 19 years were included in this study. We obtained the percentile curves for BMI and body composition indices. Conclusion: The reference values for body composition from this study could help with assessing body composition in Korean adolescents.
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.
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.