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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.
다낭성신질환, 한의학으로 어떻게 접근할 것인가? (동의보감을 중심으로-증례보고)
이정은,한영주,임도희,박양춘,배한호,Lee, Jung-Eun,Han, Young-Joo,Lim, Do-Hee,Park, Yang-Chun,Bae, Han-Ho 대한한방내과학회 2004 大韓韓方內科學會誌 Vol.25 No.4
Objective : This study was designed to evaluate the extent of effectivness of no mind-therapy (Korean traditional Qigong) on ADPKD. Method : ADPKD patient were observed for one year, given no Western Treatments, and treated only Josik(調息), Joki(調氣)(Korean traditional therapy). Results : 1. The general condition of patient improved and there were specific symtoms that ceased. 2. Hypertention patient showed a lowering of blood pressure. Conclusion : These results suggest a role for no mind-therapy in treatement of ADPKD.
미륵사지 석탑 축기부 토층의 조성분석을 통한 제작기법 해석
이정은,이찬희,이동식,Yi, Jeong-Eun,Lee, Chan-Hee,Lee, Dong-Sik 대한자원환경지질학회 2012 자원환경지질 Vol.45 No.3
익산 미륵사지 석탑은 백제시대의 석탑으로 미륵사터에 세워진 탑 중 유일하게 현존하는 국보 제11호이다. 이 석탑은 이미 부분적으로 원형을 상실한 상태로서 현재는 완전히 해체되어 복원을 앞두고 있다. 이 연구에서는 석탑의 지반에 대한 판축기술 및 제작기법을 해석하기 위해 사지 조성층, 석탑 축기부 및 기단 조성층에 사용된 토층을 층위별로 구분하여 물리적, 재료학적 및 지구화학적 특성 분석을 수행하였다. 또한 미륵사지 주변에 분포하는 지반 토양 5점을 선정하여 석탑 판축에 사용된 토층과의 비교연구를 통하여 상호간의 동질성을 해석하였다. 이 결과, 석탑의 판축에 사용된 모든 토층에서 인위적 첨가물은 확인되지 않았다. 또한 주변 지역의 토양과 물리적, 광물학적 및 지구화학적 특성이 동일한 것으로 확인되었다. 따라서 미륵사지 석탑의 지반은 특별한 정선과정 없이 주변 지역의 토양을 사용하여 축조한 것으로 해석된다. The Mireuksaji stone pagoda is constructed Baekje Period in the 7th century which is located in Iksan, Korea. This stone pagoda designated by National Treasure No. 11 is the only remaining pagoda. This pagoda has lost the original form in part and the whole stonework wase dismantled. Work for the restoration is currently in progress. This study was divided into soil strata such as construct layer of the temple site, foundation layer of the pagoda basement, and construct layer of the stylobate by stratum to interpretation the skill of rammed earth and making techniques. The of physical, mineralogical and geochemical characteristics of soil samples were identified. Five pieces of soil in and around the Mireuksaji temple site was selected for the comparative study to interpretate the mutual homogeneity among soil stratum. As a result, artificial addition has not been identified in all soil samples using rammed earth. The soils used for the basement of the stone pagoda (construct layer of the temple site, foundation layer of the pagoda basement, construct layer of the stylobate) were confirmed to be the same origin as soil in and around Mireuksaji temple site. Thus these results indicate that the basement of the pagoda was constructed using soils in and around the Mireuksaji temple site without work as careful selection.
소아 서혜부탈장 진단에 초음파검사 실시 후 임상 양상의 변화
이정은,최금자,Lee, Jeong-Eun,Choi, Kum-Ja 대한소아외과학회 2004 소아외과 Vol.10 No.2
The purpose of this retrospective study was to evaluate the effects of diagnostic sonography in pediatric patients with inguinal hernias. The patients were classified into two groups. Group A included the patients who had been operated upon for inguinal hernia in 1980's, when diagnostic sonography was not available. Group B included the patients, operated upon for inguinal hernia from 2001 to 2002, when inguinal sonography was employed to detect potential bilateral hernias. The age distribution, sex ratio, laterality, bilaterality, and concomitant symptoms were compared between group A and group B. There were 296 cases in group A and 377 cases in group B. The prevalent age group was from 1 to 5 years. There was no difference in age group distribution between both groups. The male to female ratio was 5.3:1 in group A and 3.5:1 in group B. The ratio of unilateral to bilateral hernia was 5:1 in group A and 3:1 in group B. In cases with a unilateral hernia, the ratio of right to left was 1.5:1 in group A and 1.8:1 in group B. In cases with bilateral hernia, the simultaneous bilateral hernia was 33 cases (67.4 %) in group A and 75 cases (80.6 %) in group B. The sequential bilateral hernia was 16 cases (32.7 %) in group A and 18 cases (19.4 %) in group B. Although the ratio of bilateral hernia was increased in group B, the portion of the sequential bilateral hernia was significantly decreased in group B. In conclusion, there were no differences in the age distribution and the laterality between group A and B. The ratio of female patients and the incidence of bilateral hernia were increased in group B even though the portion of the sequential bilateral hernia was decreased. This result shows that the preoperative inguinal sonography in unilateral hernia with potential bilateral hernia is useful in early detection of the sequential contralateral hernia.
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.
Si 나노입자에서 shell이 전기화학적 특성에 미치는 영향
이정은,구정분,장보윤,김성수,Lee, Jeong-eun,Koo, Jeong-boon,Jang, Bo-yun,Kim, Sung-Soo 한국전기전자재료학회 2016 전기전자재료학회논문지 Vol.29 No.4
Effects of $SiO_x$ or C shells on electrochemical properties of Si nanoparticles were investigated. $SiO_x$ shells with thickness of 10~15 nm were formed on homogeneously crystalline Si nanoparticles. Incase of Si-C nanoparticles, there were 30~40 layers of C with a number of defects. Li-ion batteries were fabricated with the above-mentioned nanoparticles, and their electrochemical properties were measured. Pristine Si shows a high IRC (initial reversible capacity) of 2,517 mAh/g and ICE (initial columbic efficiency) of 87%, but low capacity retention of 22%, respectively. $SiO_x$ shells decreased IRC (1,534 mAh/g) and ICE (54%), while the retention increased up to 65%, which can be explained by irreversible phases such as $LiO_2$ and $Li_2SiO_3$. C shells exhibited no differences in IRC and ICE compared to the pristine Si but an enhanced retention of 54%, which might be from proper defect structures.
재난안전 용어사전 구축을 위한 미디어별 어휘 사용 양상 비교
이정은,김태영,오효정,Lee, Jung-Eun,Kim, Tae-Young,Oh, Hyo-Jung 한국정보처리학회 2018 정보처리학회논문지. 소프트웨어 및 데이터 공학 Vol.7 No.6
재난사건의 신속한 대응은 다양한 분야의 재난안전 유관기관들이 유기적으로 관계함으로써 가능하며, 이 때 사용되는 재난용어의 표준화는 필수적이다. 따라서 재난안전 분야의 전문 용어사전 구축은 각 유관기관 간의 의사소통 및 국민에게 명확한 정보 전달을 위해 수반되는 핵심 요소이다. 더불어 효율적인 용어사전 구축을 위해서는 구축 대상 용어의 우선순위 선정이 필요하다. 본 연구에서는 구체적인 용어사전 구축방향의 설정을 위하여 용어 사용 주체로 대표되는 미디어를 각각 용어사전, 뉴스미디어, 소셜미디어로 선정하고 어휘의 사용 양상을 비교하였다. 이를 위해 각 미디어에서 수집된 어휘 자원을 바탕으로 미디어별 동시 출현 양상 및 빈도 가중치 분석을 통하여 어휘의 분포를 시각화하였다. 분석 결과를 통해 어휘의 사용 양상에 따라 용어사전의 구축대상이 될 수 있는 어휘의 유형을 4가지로 분류하고, 구축대상 기준별 용어사전 구축의 우선순위 방향성을 제안하였다. The rapid response of disaster accidents can be archived through the organical involvement of various disaster and safety control agencies. To define the terminology of disaster safety is essential for communication between disaster safety agencies and well as announcement for the public. Also, to efficiently construct a word dictionary of disaster safety terminology, it's necessary to define the priority of the terms. In order to establish direction of word dictionary construction, this paper compares the usage of disaster safety terminology by media: word dictionary, new media, and social media, respectively. Based on the terminology resources collected from each media, we visualized the distribution of terminology according to frequency weights and analyzed co-occurrence patterns. We also classified the types of terminology into four categories and proposed the priority in the construction of disaster safety word dictionary.
그래픽 하드웨어를 이용한 분자용 보로노이 다이어그램 계산
이정은,백낙훈,김구진,Lee, Jung-Eun,Baek, Nak-Hoon,Kim, Ku-Jin 한국정보처리학회 2012 정보처리학회논문지 A Vol.19 No.4
본 논문에서는 주어진 단백질 분자에 대해 3차원 보로노이 다이어그램을 계산하는 알고리즘을 제안한다. 분자는 반경이 서로 다른 구의 집합으로 표현되며, 각 구의 반경은 원자의 반데르바스 (van der Waals) 반경에 대응한다. 보로노이 다이어그램은 3차원 공간을 복셀(voxel)의 집합으로 분할한 뒤, 보로노이 다이어그램을 포함하는 복셀을 보수적으로 추출함으로써 구성된다. 분자의 계층적 성질을 이용하여 BVH(bounding volume hierarchy)를 구성하고, CUDA 프로그래밍을 통하여 그래픽 하드웨어 가속을 활용함으로써 계산 시간 효율성을 높인다. 공간이 최대 $2^{24}$개의 복셀로 분할될 경우, 단일 코어 CPU로 구현하는 알고리즘에 비해 계산 속도가 323배 가량 향상 되었다. We present an algorithm that computes a 3 dimensional Voronoi diagram for a protein molecule in this paper. The molecule is represented as a set of spheres with van der Waals radii. The Voronoi diagram is constructed in the 3D space by finding the voxels containing it. For the feasibility of the computation, we represent the molecule as a BVH (bounding volume hierarchy), and our system is accelerated by modern graphics hardware with CUDA programming support. Compared to single-core CPU implementations, experimental results show 323 times faster performance in the computation time, when the space is partitioned into $2^{24}$ voxels.
이정은,최안섭,Lee, Jung-Eun,Choi, An-Seop 한국조명전기설비학회 2005 조명·전기설비학회논문지 Vol.19 No.3
주거공간에서 빛은 인간이 삶을 영위하고 창조활동을 하기 위해서는 꼭 필요한 환경요소이다. 특히 현대인들은 많은 시간을 인공적으로 꾸며진 실내환경 속에서 인공적인 빛을 밝히고 생활하는데 익숙해 있다. 현재 주택에서의 빛환경은 공간마다 명시성 위주의 생활행위에만 기준을 두고 있어 평균조도가 증가되기는 하였다. 그러나 주거공간은 다양한 용도와 목적으로 여러 생활행위가 행해지므로 이것에 대응시킬 수 있는 다양한 조도설정이 필요하다. 본 연구에서는 주거공간에서의 빛의 본질을 파악하고, 공동주택을 대상으로 실내공간별 빛환경을 측정하였다. 이를 통해 공동주택의 조명평면 및 문제점을 분석하여 우리나라 주거조명환경에 적합한 조도기준을 제안하고자 하였다. Light is an important environmental element for people to live and do creative activities in residential areas. Especially, people are used to live under artificial light in artificial interior surroundings for the most times. Currently, the lighting quality of residential areas has been improved, but it still does not reach to the recommended level because the luminous environment of present residential areas is only based on the life behavior which puts its priority to clear vision. Therefore, it is necessary that proper standard illumination must be used for various uses and purposes. From this point of view, this paper investigated the essence of light in residential areas, and the luminous environment for apartments was measured This paper finally established well-coordinated standard illuminance, derived from the measurement and analysis of luminous environment from these cases.