양성 고페닐알라닌혈증 환자에 대한 임상적 고찰과 유전자 분석

이정은,이정호,이동환,Lee, Jeongeun,Lee, Jeongho,Lee, Dong Hwan 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.2

목적: 본 연구의 목적은 국내 양성 고페닐알라닌혈증의 돌연변이 유전자 분석, 임상 양상, 치료에 대해 조사하는 것이다. 방법: 2010년도 4월부터 2015년도 8월까지, 신생아 선별검사에서 페닐알라닌의 상승으로 본원으로 전원되어 양성 고페닐알라닌혈증으로 진단된 10명의 환자를 대상으로 시행되었다. 조사항목으로는 환자들의 특징 및 임상 양상과 직접 염기서열 분석을 통한 PAH 유전자 돌연변이 형태 분석을 포함하였다. 결과: 10명의 환자들 중 2명은 고페닐알라닌혈증으로 진단된 자녀의 부모였으며, 환자들 중 특이 과거력이나 임상 증상이 있는 경우는 없었다. 혈장 아미노산 분석에서는 페닐알라닌이 1.2 mg/dL부터 4.2 mg/dL까지의 범위로 측정되었다. BH4 부하검사에서는 모든 환자들이 BH4에 무반응이었다. 확진 검사로 시행한 페닐알라닌수산화효소 유전자 분석에서는, 총 20개의 대립유전자들 중에서 11개의 각기 다른 대립유전자형을 확인할 수 있었는데, 이 중 제일 흔한 대립유전자는 R53H (c.158G>A)였다. 뿐만 아니라, 직접염기서열분석 상에서 2가지의 새로운 돌연변이 형태인 V423A (c.1268T>C)와 V51A (c.152T>C)를 발견하였다. 본 연구에 포함된 환자들은 약물을 복용하거나 식사 조절을 하지 않았음에도, 지속적인 외래 추적 관찰 결과 모든 환자들의 페닐알라닌 치는 6 mg/dL 이하로 유지되었으며, 정상적인 신경 인지발달을 하고 있는 것을 확인하였다. 결론: 이 연구는 양성 고페닐알라닌혈증 환자에 대한 분석이며 국내에서 처음으로 시행한 것이다. 모든 양성 고페닐알라닌혈증 환자들은 지속적인 치료 없이도 혈장 페닐알라닌 치를 6 mg/dL 이하로 유지하였고 정상적인 신경 인지발달을 하였다. 그러므로, 돌연변이 검사를 시행하여 양성 고페닐알라닌혈증 환자를 페닐케톤뇨증과 감별함으로써 불필요한 식사 요법이나 약물 투여를 줄여 환자의 삶의 질을 높일 수 있다. Purpose: This study aimed to analyze genetic mutations, clinical manifestations, and treatment of patients with benign HPA in Korea. Methods: This case series study involved ten HPA patients who were referred to our hospital because of high phenylalanine concentration. We investigated their demographic features, clinical manifestations, and mutations of the PAH gene through direct DNA sequencing. Results: Among ten patients with benign HPA, two pairs of patients were related (father-daughter, mother-daughter relationship) cases, and all of them showed no specific clinical manifestations or notable past history. Their plasma phenylalanine levels ranged between 1.2 and 4.2 mg/dL. In the tetrahydrobiopterin (BH4) loading test, all patients were nonresponsive to BH4. In the confirmation test of PAH mutation analysis, we identified eleven different alleles out of twelve. The most common allele was R53H (c.158G> A). In addition, two novel PAH gene mutations, V423A (c.1268T>C) and V51A (c.152T>C), were identified. Although the patients did not receive any pharmacologic treatment or continuous phenylalanine restriction dietary therapy, their neurocognitive development was normal. Moreover, on serial outpatient follow-up tests, all patients maintained phenylalanine levels below 6 mg/dL. Conclusion: This study is the first in Korea to analyze benign HPA patients. All patients with benign HPA could maintain phenylalanine levels below 6 mg/dL with normal neurocognitive development, without continuous therapy. Therefore, performing mutation analysis and distinguishing benign HPA from phenylketonuria (PKU) are important to help improve life quality in patients with benign HPA by avoiding unnecessary lifelong therapy.

한약 치료를 시행한 트리메틸아민뇨증 환자 1례 증례보고

이정은,한성준,이엄지,이재형,남성욱,하나연,김진성,Lee, Jung-eun,Han, Seong-jun,Lee, Eom-jee,Lee, Jae-hyung,Nam, Seong-uk,Ha, Na-yeon,Kim, Jin-sung 대한한방내과학회 2016 大韓韓方內科學會誌 Vol.37 No.2

Objective: This case reports on the efficacy of herbal medicine treatment for trimethylaminuria.Method: A 29-year-old female Korean patient with trimethylaminuria received herbal medicine treatment for three months. We evaluated her symptoms with the methacholine challenge test and OralChroma.Results: The odor intensity shown in the methacholine challenge test demonstrated improvement.Conclusion: Herbal medicine treatment could improve trimethylaminuria symptoms.

세상의 빛을 모든 이들에게

이정은,Lee, Jeong-Eun 한국가톨릭의료협회 2002 한국가톨릭병원협회지 Vol.32 No.-

3종 시멘트로 접착한 소아용 기성 지르코니아 전장관과 유치 상아질의 전단결합강도

이정은,박호원,이주현,서현우,Lee, Jeongeun,Park, Howon,Lee, Juhyun,Seo, Hyunwoo 대한소아치과학회 2018 大韓小兒齒科學會誌 Vol.45 No.3

이 연구의 목적은 3종 시멘트의 전단결합강도를 평가하고 열순환 시행이 전단결합강도에 미치는 영향을 알아보고자 한다. 소아치과에서 사용되는 소아용 기성 지르코니아 전장관($NuSmile^{(R)}$ ZR crown)의 내면과 유사한 디스크 형태의 지르코니아 시편(Zirconia discs)을 제작하였다. 소아용 기성 지르코니아 전장관의 내면과 지르코니아 시편의 표면이 동일하도록 같은 몰드를 이용하여 제작하였으며 주사전자현미경을 통해 유사함을 확인하였다. 60개의 지르코니아 시편과 60개의 유구치 상아질 시편을 3종의 시멘트 $Ketac^{TM}$ Cem Permanent Glass Ionomer Luting Cement(KGI), $RelyX^{TM}$ Luting Plus Cement(RLP), $RelyX^{TM}$ Unicem Self-Adhesive Universal Resin Cement(RUR)에 따라 20개씩 나누고, 열순환 시행 유무에 따라 다시 10개씩 2개의 하위그룹으로 나누었다. 하위그룹 A는 열순환을 시행하지 않았고 하위그룹 B는 5500회의 열순환을 시행하였다. 만능 재료 시험기를 이용하여 전단결합강도를 측정한 후 파절 양상을 주사전사현미경으로 관찰하였다. 지르코니아 시편 및 유구치 상아질 시편에 접착한 시멘트의 전단결합강도는 RUR이 KGI와 RLP보다 높았으며 통계적으로 유의한 차이가 관찰되었다(p < 0.05). RUR의 전단결합강도는 열순환 시행하지 않은 군과 열순환 시행한 군 사이에 통계적으로 유의한 차이가 없었다. The aim of this study was to evaluate the shear bond strength of three luting cements and to identify the effect of thermocycling. Zirconia discs were made similar to the inner surface of a preformed pediatric zirconia crown ($NuSmile^{(R)}$ ZR crown: ZRCr). The similarity between the zirconia discs and the inner surface of a ZRCr was confirmed by scanning electron microscope. Three luting cements were $Ketac^{TM}$ Cem Permanent Glass Ionomer Luting Cement (KGI), $RelyX^{TM}$ Luting Plus Cement (RLP), $RelyX^{TM}$ Unicem Self-Adhesive Universal Resin Cement (RUR). Three luting cements were bonded according to the manufacturer's instructions for 60 zirconia discs and 60 dentin of primary teeth. Total of 120 specimens were divided into two subgroups: One was not aged, and the other was tested with 5500 thermocycling. Shear bond strength was measured using a universal testing machine, and the fracture patterns were observed with SEM. On the zirconia discs and the dentin of primary teeth, shear bond strength of RUR was higher than that of KGI and RLP, and there were statistically significant differences by cement type. The shear bond strength differences for RUR were not statistically significant depending on thermocycling.

가토 신장기능에 미치는 Pro-Atrial Natriuretic Peptide의 영향

이정은,조경우,김선희,Lee, Jeong-Eun,Cho, Kyung-Woo,Kim, Suhn-Hee 대한생리학회 1990 대한생리학회지 Vol.24 No.1

It is well known that the atrial natriuretic peptide (ANP) has a prepro-hormone of 151 amino-acids which loses their hydrophobic signal peptide to form 126 amino acid prohormone. The whole prohormone is released and then cleaved by proteases into more than one circulating forms. Recently, Winters et al. (1988a, b) reported that high concentrations of N-terminal fragments of prepro-ANP $(26{\sim}55),\;(56{\sim}92)\;and\;(104{\sim}123)$ were detected in human plasma. However, their physiological roles have not been established. The present study was conducted to determine whether the N-terminal fragments of pro-ANP have any effect on the renal function and to compare the effect with those of G-terminal fragments of pro-ANP The results indicate that intrarenal arterial infusions of prepro-ANP $(26{\sim}41),\;(26{\sim}55),\;(56{\sim}92)\;and\;(104{\sim}123)$ induced no significant changes in renal function. Whereas ${\alpha}-human$ ANP $(prepro-ANP,\;124{\sim}151)$ and pro-ANP caused a significant increase in urine volume, renal plasma flow, glomerular filtration rate, urinary excretions of sodium, chloride and potassium, and fractional excretion of sodium. These results suggest that the N-terminal fragments of pro-ANP are ineffective, while the C-terminal fragments retain the natriuretic and diuretic activities.

청금강화탕(淸金降火湯 ) 및 과루지실탕(瓜蔞枳實湯)이 호흡기(呼吸器) 배상세포(杯狀細胞)로부터의 뮤신 분비(分泌)에 미치는 영향

이정은,박양춘,Lee, Joung-Eun,Park, Yang-Chun 대한한방내과학회 2004 大韓韓方內科學會誌 Vol.25 No.2

Objective : This study is intended to investigate whether the two oriental medical prescriptions, CheongGeumGangHwa-tang(CGGH) and GwaRuJiSil-tang(GRJS), significantly affect mucin release from cultured hamster tracheal surface epithelial(HTSE) cells. Materials and Methods : Confluent HTSE cells were metabolically radio labeled with 3H-glucosamine for 24 hrs and chased for 30 min in the presence of CGGH or GRJS to assess the effect of each agent on 3H-mucin release. Possible cytotoxicities of each agent were assessed by measuring lactate dehydrogenase(LDH) release. Also, the effects of CGGH and GRJS on contractility of isolated tracheal smooth muscle were investigated. Results : (1) CGGH and GRJS significantly increased mucin release from cultured HTSE cells, without cytotoxicity : (2) CGGH and GRJS did not affect contractility of isolated tracheal smooth muscle. Conclusions : These results suggest that the effects of CGGH and GRJS should be further investigated, and that it would be gainful to invesigate, from among oriental medical prescriptions, what novel agents have these mild expectorant effects on mucin secretion from airway goblet cells.

생명 과학I 수업에서 과학 글쓰기 활동이 고등학생의 과학적 사고력에 미치는 영향

이정은,정은영,Lee, Jungeun,Jeong, Eunyoung 경북대학교 과학교육연구소 2013 科學敎育硏究誌 Vol.37 No.3

The purpose of this study was to investigate the effect of science writing activities on high school students' scientific thinking ability in Life Science I class. In order to do this, 6 teaching-learning materials dealing with science writing and an evaluation tool for scientific thinking ability were developed. And the subjects were 224 high school students of 6 classes. As a result of applying science writing activities in Life Science I class, the students' scientific thinking ability was improved. And students' inductive/deductive/critical/creative thinking ability was improved. In addition, in the most of the evaluation criteria of scientific thinking ability, the scores of posttest were higher than those of pretest. The number of students to show higher performance levels was increased. Therefore, science writing activities have positive effect on high school students' scientific thinking ability. This study provides some implications for teaching science writing activities to develop students' scientific thinking ability. 과학교육의 목표가 지식의 습득에서 지식 형성과정을 강조하는 것으로 변화하면서, 학생들에게 과학적 사고 연습의 기회를 제공하는 학습 방법으로 과학 글쓰기가 부각되고 있다. 현행 과학과 교육과정에서는 과학 글쓰기와 토론을 통하여 과학적 사고력, 창의적 사고력 및 의사소통 능력을 함양할 수 있도록 지도할 것을 명시하고 있다. 본 연구는 생명 과학I 수업에서 과학 글쓰기 활동이 학생들의 과학적 사고력에 어떤 영향을 미치는지 알아보고자 하였다. 이를 위해 생명 과학I 수업에 활용 가능한 6차시의 과학 글쓰기 활동지와 과학적 사고력 평가도구를 개발하였다. 고등학교 1학년 6학급 224명 학생을 대상으로 하여 3개의 학급에는 과학 글쓰기를 활용한 수업을 하고 다른 3개의 학급에서는 강의식 수업을 총 6차시 실시하였다. 생명 과학 I 수업에 과학 글쓰기 활동을 적용한 결과, 학생들의 과학적 사고력이 향상되었고, 과학적 사고력의 영역별로 분석한 결과, 귀납적 사고력, 연역적 사고력, 비판적 사고력, 창의적 사고력의 4가지 범주 모두에서 유의미한 향상을 보였다. 과학적 사고력 영역의 평가 준거별 분석 결과에서는 귀납적 사고력의 경우 평가 준거 '근거'와 '설명'에서 향상되었고, 연역적 사고력에서는 평가 준거 '결론'과 '설명'에서 유의미하게 향상되었다. 비판적 사고력에서는 평가 준거 '주장', '근거', '설명', '반증'에서, 창의적 사고력에서는 '창의성', '융통성', '독창성', '정교성'의 모든 평가 준거에서 유의미한 향상이 나타났다. 본 연구의 결과는 과학적 사고력 함양을 위한 과학 글쓰기 활동의 지도에 대한 시사점을 제공하며, 다양한 과학 글쓰기 활동을 위한 자료 개발에 도움이 될 것이다.

지속가능발전목표(SDGs) 이행을 위한 지속가능한 식생활 교수·학습 과정안 개발

이정은,유난숙,Lee, Jung Eun,Yu, Nan Sook 한국가정과교육학회 2022 한국가정과교육학회지 Vol.34 No.3

The purpose of this study was to identify learning topics linked to Sustainable Development Goals(SDGs) in the dietary life unit of middle school technology and home economics textbooks and to develop teaching-learning plans and learning materials to verify the feasibility and field suitability. This study was carried out through analysis, design, development, and evaluation stages, and the results are as follows. First, in the analysis stage, the dietary life contents of the five home economics textbooks written based on the 2015 revised curriculum were analyzed, and dietary life-related goals were extracted from the 169 SDG targets to reorganize the learning topics linked to the contents of the textbooks. Second, in the design stage, the overall goal of the entire class was set and each session was designed by selecting the learning goals, learning topics, and learning contents, reflecting the SDGs related to the session to be developed. Based on the analyses of textbooks and the SDGs related to dietary life, the themes of 'desirable eating habits of adolescents', 'food production', 'food distribution', and 'food consumption and disposal' were extracted. Third, in the development stage, a total of 11 teaching-learning plans and student worksheets were developed, and an evaluation sheet was developed for expert verification. Fourth, in the evaluation stage, the feasibility and field suitability of the teaching-learning plans were verified by 5 home economics teachers. Learning goals, learning contents, connectivity to related SDGs, and feasibility of teaching-learning plan were evaluated, and based on the assessment results, teaching-learning plans were revised.

직장인 스트레스 반응 척도 개발 및 타당화 연구

이정은,최보라,정영은,송광헌,강민재,채정호,Lee, Jeong Eun,Choi, Bora,Jung, Young-Eun,Song, Gary,Kang, Min Jae,Chae, Jeong-Ho 대한불안의학회 2012 대한불안의학회지 Vol.8 No.2

Objectives : The purpose of this study was to develop an employee's stress response scale (ESRS) and examine its validity and reliability. Methods : The study was conducted as follows : item generation, and test of validity and reliability. Items were developed via literature review, review of instruments, and data acquired from email-survey of counselors in the field of Employee Assistance Program (EAP). In order to test validity and reliability, data were collected from 400 employees. Results : The result of exploratory factor analysis of ESRS suggested 4 factor structures (work-related, anger, somatization, depression & anxiety) with a total of 25 items. ESRS showed a relatively strong positive correlation with Hospital Anxiety-Depression scale (HAD), Perceived Stress Scale (PSS), and Psychological Wellbeing Index (PWI), which showed ESRS had high convergent validity. Cronbach's ${\alpha}$ and test-retest reliability was .95 and .610 respectively. Conclusion : The ESRS is reliable and valid brief scale for measuring stress responses of employees. This scale would be useful in quantitatively evaluating job stress in workplace.

지하공간 안전성 향상를 위한 개선방안에 대한 연구

이정은,황현숙,김창수,Lee, Jeong-Eun,Hwang, Hyeon-Suk,Kim, Chang-Su 한국멀티미디어학회 2008 한국멀티미디어학회지 Vol.12 No.1