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.

주거공간의 실내공간별 조도기준을 위한 빛환경 연구

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.

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.

Phase II Study of Induction Irinotecan + Cisplatin Chemotherapy Followed by Concurrent Irinotecan + Cisplatin Plus Twice-Daily Thoracic Radiotherapy

이정은,박희선,정성수,김주옥,조문준,김진환,이충식,김선영,Lee, Jeong Eun,Park, Hee Sun,Jung, Sung Soo,Kim, Ju Ock,Cho, Moon June,Kim, Jin Hwan,Lee, Choong Sik,Kim, Sun Young The Korean Academy of Tuberculosis and Respiratory 2007 Tuberculosis and Respiratory Diseases Vol.63 No.2

배경: Irinotecan hydrochloride는 topoisomerase I inhibitor로서 소세포 폐암에 효과적인 약제로 알려져 있다. Irinotecan은 cisplatin과 더불어 방사선감작물질로 작용하기도 한다. 본 연구는 이전에 치료받은 경험이 없는 제한성 병기의 소세포 폐암 환자에서 irinotecan과 cisplatin(IP)의 방사선 동시화학요법의 효과를 평가하기 위하여 시행되었다. 방법: 2002년 12월부터 2004년 11월까지 충남대학교 병원에서 새로이 제한성 병기의 소세포 폐암으로 진단된 24명의 환자들을 대상으로 하였다. Irinotecan $60mg/m^2$을 제 1일과 제 8일째 투여하였고 cisplatin $60mg/m^2$을 제 1일째 투여하였으며 매 3주 간격으로 시행되었다. 제 3차 항암화학요법을 시작하는 날과 동시에 과다 분할방사선 치료(twice-daily thoracic irradiation; 45 Gy total)을 시작하였다. 예방적 전 뇌 방사선 조사(Prophylactic cranial irradiation)가 방사선 동시화학요법이 끝난 후 완전반응(complete response)을 나타낸 환자에서 시행되었다. 제 2차 항암요법과 제 6차 항암요법이 끝난 후에 흉부 전산화 단층촬영과 기관지경 등을 통한 병기의 재평가가 이루어졌다. 결과: 병기의 재평가는 19명의 환자에게 이루어졌다. 중앙 추적관찰기간은 12.5개월이고 전체 99회의 항암치료가 시행되었다. 평균 한 환자당 5.2회의 항암치료가 시행되었다. 실제 용량강도는 cisplatin $19.6mg/m^2$/week과 irinotecan $38.2mg/m^2$/week이었다. 9명의 환자가 완전반응을 보였고 10명의 환자가 부분반응(partial response)을 보여서 전체 반응률은 95%였다. 3에서 4도의 혈액학적 독성은 백혈구 감소증(35% of cycles), 빈혈(7% of cycles), 혈소판 감소증(7% of cycles) 등으로 나타났다. 3에서 4도의 비 혈액학적 독성은 설사(5% of cycles)였다. 3에서 4도의 방사선 식도염(10% of patients)을 제외하고는 과다 분할 방사선 치료를 이용한 방사선 동시 화학요법의 기존의 방법과 독성 면에서는 큰 차이가 없었다. 치료와 관련된 사망은 관찰되지 않았다. 평가가 가능한 환자들에서 1년 생존율과 2년 생존율은 각각 89% (16/18)와 47% (9/18)였다. 결론: 3주 간격으로 시행된 irinotecan과 cisplatin을 이용한 과다분할 방사선 동시 요법은 제한성 병기의 소세포 폐암 환자에서 부작용은 높지 않으면서 효과적인 치료법으로 고려될 수 있을 것이다. Background: Irinotecan hydrochloride, a topoisomerase I inhibitor, is effective against small-cell lung cancer. Irinotecan also can act as a potential radiation sensitizer along with cisplatin. To evaluate efficacy and toxicity of irinotecan plus cisplatin (IP) with concurrent thoracic radiotherapy, we conducted a phase II study of IP followed by concurrent IP plus hyperfractionated thoracic radiotherapy in patients with previously untreated limited-stage small-cell lung cancer. Methods: Twenty-four patients with previously untreated small-cell lung cancer were enrolled onto the study since November 2004. Irinotecan $60mg/m^2$ was administered intravenously on days 1 and 8 in combination with cisplatin $60mg/m^2$ on day1 every 21 days. From the first day of third cycle, twice-daily thoracic irradiation (total 45 Gy) was given. Prophylactic cranial irradiation was given to the patients who showed complete remission after concurrent chemoradiotherapy. Restaging was done after second and sixth cycle with chest CT and/or bronchosocpy. Results: Up to November 2004, 19 patients were assessable. The median follow-up time was 12.5 months. A total of 99 cycles (median 5.2 cycles per patient) were administered. The actual dose intensity values were cisplatin $19.6mg/m^2$/week and irinotecan $38.2mg/m^2$/week. Among the 19 patients, the objective response rate was 95% (19 patients), with 9 patients (47%) having a complete response (CR). The major grade 3/4 hematological toxicities were neutropenia (35% of cycles), anemia (7% of cycles), thrombocytopenia (7% of cycles). Febrile neutropenia was 4% of cycles. The predominant grade 3/4 non-hematological toxicities was diarrhea (5% of cycles). Toxicities was not significantly different with concurrent administration of irinotecan and cisplatin with radiotherapy, except grade 3/4 radiation esophagitis (10% of patients). No treatment-related deaths were observed. The 1-year and 2-year survival rate of eligible patients was 89% (16/18) and 47% (9/18), respectively. Conclusion: Three-week schedule of irinotecan plus cisplatin followed by concurrent IP plus hyperfractionated thoracic radiotherapy is an effective treatment for limited disease small-cell lung cancer, with acceptable toxicity.

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

극저온 정제시스템의 품질관리를 위한 SF₆ 가스 분석방법 개선

이정은,조민,이원석,Lee, Jeong Eun,Cho, Min-ho,Lee, Won Seok 한국전력공사 2022 KEPCO Journal on electric power and energy Vol.8 No.1

Because sulfur hexafluoride(SF₆) is classified as one of the six major greenhouse gases, SF₆ handling in power plant such as recovery, purification, and reuse is considered to be important. KEPCO has focused to develop the advanced recovery and purification technology of SF₆ reuse. SF₆ analysis includes the on-site analyses and on-line analyzer; i.e., (1) on-site analysis has an error rate of ±0.5% and (2) on-line analysis has an error rate of ±0.1%, which is possible to adjust operating conditions and to make the work more conveniently by analyzing SF₆ concentration before and after purification step. This paper presents an online analysis method in the SF₆ purification and reuse system. In addition, the analysis results and quality guarantees for each section of the analysis system were presented.

간질발작(癎疾發作)환자 치험 1예

이정은,황지호,임도희,한영주,배한호,정인철,박양춘,Lee, Jung-Eun,Hwang, Ji-Ho,Lim, Do-Hee,Han, Young-Joo,Bae, Han-Ho,Jeong, In-Chul,Park, Yang-Chun 대한한방내과학회 2005 大韓韓方內科學會誌 Vol.26 No.2

Epilepsy is a neurological condition that from time to time produces brief disturbances in the normal electrical functions of the brain, Normal brain function is made possible by millions of tiny electrical charges passing between nerve cells in the brain and to all parts of the body. They may affect a person's consciousness, bodily movements or sensations for a short time. These physical changes are called epileptic seizures. These clinical data, gathered an epileptic seizure whose main symptom was convulsion, was analyzed. This clinical report pertains to a 51 year-old man who suffered an epileptic seizure and after effects of weakness. He was treated with ChongsimOndamTang(淸心溫膽湯). The cheif symptom, epileptic seizure, disappeared and general conditions improved after Korean medical treatments, so this is reported as a potential treatment.

식물에 대한 꽃매미의 섭식행동과 섭식자극

이정은,문상래,안희근,조선란,양정오,윤창만,김길하,Lee, Jeong-Eun,Moon, Sang-Rae,Ahn, Hee-Geun,Cho, Sun-Ran,Yang, Jeong-Oh,Yoon, Chang-Mann,Kim, Gil-Hah 한국응용곤충학회 2009 한국응용곤충학회지 Vol.48 No.4

꽃매미의 식물에 대한 선호도을 조사한 결과, 가죽나무와 포도나무를 가장 선호하였으며, 사과나무, 배나무, 무궁화나무, 소나무와 복숭아 나무는 선호하지 않는 것으로 나타났다. 7종 식물에 대하여 꽃매미 약충과 성충은 가죽나무와 포도나무에서 가장 오래 생존하였고, 다른 식물에서는 생존기간이 짧았다. 과수열매에서는 거의 생존하지 못하였다. 꽃매미의 섭식행동 분석결과, 약충과 성충 모두 가죽나무와 포도나무에서 섭식하지 않는 시간(non-probing time)은 가장 짧았고, 체관부 섭식시간(phloem-feeding time)은 가장 길었다. 이를 제외한 나머지 식물과 열매에서는 체관부 섭식시간이 0분으로 섭식을 하지 못하였다. 5종 식물을 당 분석한 결과, 가죽나무는 sucrose 함량이 가장 높았고 fructose > glucose순으로, 포도나무에는 glucose > fructose > maltose > sucrose > rhamnose순이고, 사과나무는 glucose > fructose, 배나무는 glucose > unknown > fructose, 무궁화나무는 sucrose > glucose 순으로 당 성분이 존재하였다. Parafilm membrane 검정법으로 생존기간을 조사한 결과, 약충과 성충 모두 sucrose 5%용액에서 가장 생존기간이 길었으며, fructose 5%용액이 그 다음이었다. 이를 제외한 나머지 성분에서는 짧은 수명을 나타내었다. 분석된 당 성분의 조합에 의한 검정에서도 약충과 성충 모두 가죽나무와 포도나무의 당 성분조합에서 다른 당 성분조합과 비교하여 긴 수명을 보였다. 당 성분이 꽃매미가 기주를 선택하고 섭식하는데 영향을 미치는 것으로 생각된다. Host preference was tested on the 7 species plants against ggot-mae-mi, Lycorma delicatula (Hemiptera: Fulgoridae). This insect highly preferred Ailanthus altissima and Vitis vinifera however, didn't choose the other plants preferentially. Both nymphs and adults lived longest in A. altissima and V. vinifera but lived in short and low ecdysis rate against other plants and 3 species fruits. By analyzing the phloem-feeding behavior using EPG, L. delicatula was showed the short time in non-probing phase and it also exhibit the longest feeding time in A. altissima and V. vinifera, but other plants did not feed the phloem at all. In sugar contents analysis, A. altissima existed high sucrose proportion and followed by fructose>glucose, V. vinifera was analyzed by an order of glucose> fructose>maltose>sucrose>rhamnose, Malus pumila was as glucose> fructose, Pyrus calleryana was as glucose>unkown>fructose, Hibiscus syriacus was as sucrose>glucose. Nymphs and adults of L. delicatula lived longest in 5% sucrose solution, and next is in 5% fructose solution. However, they lived short in other sugar solutions. L. delicatula nymph and adult according to the combination of sugar proportion found in original plants lived longer in sugar combination solution of A. altissima and those of V. vinifera was next. Analyzed original sugar proportion from M. pumila, P. calleryana, H. syriacus respectively, L. delicatula lived short period comparing to the A. altissima, V. vinifera. This result was judged that sugar contents affected on choosing the host plants.

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.