당선소감_윤혜란

윤혜란 문예운동사 2010 수필시대 Vol.5 No.-

ESI-MS/MS를 이용한 소변 중 Globotriaosylceramide(Gb3)의 정량 및 임상 응용; 패브리병(Fabry) 진단

윤혜란,조경희,강승우,권영주,정춘식,이용수,Yoon, Hye-Ran,Cho, Kyung-Hee,Kang, Seung-Woo,Kwon, Young-Joo,Jeong, Choon-Sik,Lee, Yong-Soo 대한약학회 2007 약학회지 Vol.51 No.2

Measurement of globotriaosylceramide (Gb3, ceramide trihexoside) in urine has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme ${\alpha}$-galactosidase A (${\alpha}$-Gal A). The lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly Gb3. A simple, rapid, and highly sensitive analytical method for Gb3 in urine was developed without labor-extensive pre-treatment by electrospray ionization MS/MS (ESI-MS/MS). Only simple 5-fold dilution of urine is necessary for the extraction and isolation of Gb3 in urine. Gb3 in diluted urine was dissolved in dioxane containing C17:0 Gb3 as an internal standard. After centrifugation it was directly injected and analyzed through guard column by in combination with multiple reaction monitoring mode of ESI-MS/MS. Eight isoforms of Gb3 were completely resolved from urine matrix. C24:0 Gb3 occupied 50% of total Gb3 as a major component in urine. Linear relationship for Gb3 isoforms was found in the range of 0.005${\sim}$5.0 ${\mu}$g/ml. The limit of detection (S/N=5) was 0.005 ${\mu}$g/ml and limit of quantification was 0.05 ${\mu}$g/ml for C24:0 Gb3 with acceptable precision and accuracy. Correlation coefficient of calibration curves for 8 Gb3 isoforms ranged from 0.9598 to 0.9975. This method could be useful for rapid and sensitive 1st line Fabry disease screening, monitoring and/or diagnostic tool for Fabry disease.

Ethylmalonic Encephalopathy

윤혜란,한시훈,안영민,신윤정,Yun, Hye-Ran,Han, Si-Hun,An, Yeong-Min,Sin, Yun-Jeong 대한유전성대사질환학회 2001 대한유전성대사질환학회지 Vol.1 No.1

아시아 및 한국에서 처음 발견된 3명의 소아 Ethylmalonic encephalopathy (EE) 환자들은 riboflavin을 이용한 치료법에 점진적인 호전을 보인 것으로 나타났다. Ethylmalonic aciduria가 3가지 효소-2-methyl-branched-chain acyl CoA dehydrogenase (2MBCAD), iso-valeryl CoA dehydrogenase (IVCAD), 그리고 short-chain acyl CoA dehydrogenase (SCAD) - 들의 부분적인 결함으로 생긴다는 가설하에 dehydrogenase (탈수효소)의 보조 효소인 riboflavin이 부분적으로 나마 치료 과정에서 어떤 역할을 수행하는지의 여부를 살펴보았다. 다음의 세 증례에서 riboflavin 혹은 coenzyme Q10을 병행하여 치료한 결과 인지 행동(cognitive behavior)과 만성 점액성 설사(chronic mucoid diarrhea)가 호전된 것으로 관찰되었다. 또한, 치료 후 운동 기능도 일부 호전되었다. EE의 질병 발생 기전이 현재까지 완전히 밝혀지지는 않았지만, 세 명의 EE 환자들의 치료경과를 관찰하여 위의 가설을 뒷받침 할 수 있었다.

유전성대사질환의 유전자치료

윤혜란,정성철 덕성여자대학교 약학연구소 2006 藥學論文誌 Vol.17 No.-

Inherited metabolic disease, inborn errors of metabolism is a group of genetic diseases defect in the metabolic pathways. Alterations in metabolic pathways are usually caused by defect of enzymes in the process. Generally, inherited metabolic diseases show heterogenous clinical features and symptoms may differ between siblings and families. Excess accumulation of precusors and their toxic derivatives in target tissues result in organ failures, such as central nervous system involvement and hepato-splenomegaly. Therapeutic starategies for inherited metabolic disease, including bone marrow transplantation, enzyme replacement therapy, and diet restriction, have been developed with some positive outcomes. However, these treatments could not be an ultimate therapeutic syarategy, their effects are temporary and give a burden to patients and their families economically and psychologically. Gene therapy can be a best choice for the treatment of inherited metabolic disease. Gene therapy involves the placement of missing genes into particular tissues by the harnessing of suitable vectors (originally these were animal viruses such as adenovirus). For example, gene therapy in the rat for diabetes has succeeded by liver-production of insulin (using genes obtained from pancreatic Islets of Langerhans cells). Many inborn errors of metabolism could be treated in this way: examples may include 100 haemoglobinopathies (such as sickle cell anaemia), phenylketonuria (PKU) etc. Here we present examples of gene therapy progress for Gaucher disease, Fabry disease, PKU, and MPS 1 (Hurlers syndrome) caused by lack of tissue-production of a particular enzyme (in its catalytically-active conformation).

융ㆍ복합시대에 컨설턴트 간 신뢰가 지식공유 활동을 매개로 컨설팅 만족도에 미치는 영향

윤혜란,나도성 한국디지털정책학회 2018 디지털융복합연구 Vol.16 No.9

위에 발생한 악성 횡문근양 종양의 영상 소견: 증례 보고

윤혜란,박동희,공준석 대한영상의학회 2021 대한영상의학회지 Vol.82 No.2

A malignant rhabdoid tumor is an aggressive tumor that occurs mainly in the kidney of infants and children. When it occurs in extrarenal sites, it is referred to as an extrarenal malignant rhabdoid tumor. Although a few cases of malignant rhabdoid tumor occuring in the central nervous system, liver, brain, skin, and soft tissue have been reported, it is rarely observed in the stomach. We report the imaging findings of a malignant rhabdoid tumor of the stomach that mimicked a gastric lymphoma in a patient who presented with melena. 악성 횡문근양 종양은 주로 영유아의 신장에서 발생하는 공격적인 종양이다. 신장 이외의 조직에서 발생한 경우 신외성 악성 횡문근양 종양이라 하고 중추신경계, 간, 뇌, 피부, 연조직등에서 드물게 보고되었다. 위에서 발생한 악성 횡문근양 종양은 매우 드물다. 저자들은 흑색변을 주소로 내원한 72세 남자의 위에서 발견된 악성 신외성 횡문근양 종양이 림프종과 유사한 영상 소견을 보인 예를 경험하여 보고한다.

D체와 R체 이성질체 판별과 GC-MS를 이용한 유전성 대사이상질환의 진단법 개발

윤혜란,Yoon, Hye-Ran 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.2

Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.

A Sensitive Determination of Plasma Free Fatty Acids Following Tert-butyldimethylsilyl Derivatization using Gas Chromatography-Mass Spectrometry for Screening of Fatty Acid Oxidation Disorders

윤혜란,타파마헤샬,Yoon, Hye-Ran,Thapa, Maheshwor The Korean Society of Inherited Metabolic Disease 2017 대한유전성대사질환학회지 Vol.17 No.2

Purpose: A sensitive gas chromatography mass spectrometry (GC-MS) method was developed for screening of fatty acid oxidation disorders. Methods: The assay utilized a simple protein precipitation with sulfosalicylic acid followed by tert-butyl dimethylsilyl (TBDMS) derivatization of hydroxyl functional group by N-tert-butyldimethylsilyl-N-methyltrifluoroacetamide (MTBSTFA). Results: Calibration curves of spiked pooled plasma showed a linear relationship in the range of 0.01 ng -2 mg with correlation coefficient value greater than 0.98. Limits of detection (LOD) and limits of quantification (LOQ) were found in the range of 0.9-8.8 ng and 9-88 ng, respectively. Conclusion: The new developed method might be useful for a rapid, sensitive screening of inherited fatty acid oxidation disorders. In addition, the method expected to be one of the alternative method for screening newborns of metabolic disorders in the laboratories where expensive MS/MS is unavailable.

국외 선천성 대사이상 검사의 최근 동향 및 탠덤매스의 도입현황

윤혜란,Yun, Hye-Ran 대한유전성대사질환학회 2003 대한유전성대사질환학회지 Vol.3 No.1

부신의 원발성 평활근육종의 영상 소견: 증례 보고

윤혜란,박동희 대한영상의학회 2020 대한영상의학회지 Vol.81 No.2

Leiomyosarcoma is a malignant tumor that typically originates from either the uterus or the retroperitoneum. Furthermore, primary adrenal leiomyosarcoma is an extremely rare condition. Owing to its radiological non-specificity, differentiating leiomyosarcoma from other tumor types in the adrenal gland is difficult. We report the imaging findings of a primary adrenal leiomyosarcoma in a patient who presented with left upper quadrant abdominal pain, which increased by more than 1 cm in diameter in two years. Primary adrenal leiomyosarcoma was diagnosed considering the subsequent surgical and histopathologic findings. 평활근육종은 주로 자궁근육층, 후복막강에서 발생하는 악성질환으로 일차성으로 부신에서발생하는 경우는 매우 드물다. 영상 소견이 비특이적이므로 부신에서 보일 수 있는 여러 종양과의 감별이 어렵다. 저자들은 좌상복부 통증을 주소로 촬영한 CT 상 좌측 부신 종괴가 발견되고, 2년 동안 1 cm 이상 크기가 증가하여 부신절제술을 받은 후 병리조직검사에서 평활근육종으로 진단된 증례를 영상 소견을 중심으로 보고하고자 한다.