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.

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.

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.

생쥐의 B 세포에서 IgE의 분비와 Cytokine 생산에 대한 소청룡탕(小靑龍湯)의 효과(效果)

이정은,한영주,박양춘,배한호,Lee Joung-Eun,Han Young-Ju,Park Yang-Chun,Bae Han-Ho 대한한방내과학회 2003 大韓韓方內科學會誌 Vol.24 No.2

Objective : We aimed to identify the inhibitory effects of SocheongRyoungTang on Cytokine Production and Secretion of IgE in Highly Purified Mouse B cells. This experiment was designed to investigate the effect of SoCheongRyongTang(SCRT) on Antiallergy. Materials and Methods : We measured the cytotoxic activity for cytokines transcript expression, production of $IL-1{\beta},\;IL-4,\;IL-6,\;IL-10,\;IFN-{\gamma},\;TNF-{\alpha},\;TGF-{\beta}$ proliferation of B cell in anti-CD40mAb plus rIL-4 plus HRF stimulated murine splenic B cells and histamine in anti-CD40mAb plus rIL-4 plus HRF stimulated mast cells. Results : 1. SCRT increased the gene synthesis of $IFN-{\gamma}(m-RNA)$, the appearance of IL-10, $IFN-{\gamma}$. 2. SCRT decreased the gene synthesis of $IL-l{\beta},\;IL-4,\;TGF-{\beta}(m-RNA)$ and the appearance of $IL-l{\beta},\;IL-4,\;TGF-{\beta},\;IgE$ significantly. Conclusion : SCRT decreased the proliferation of B cell significantly. According to the above results, it is suggested that SCRT extract might be usefully applied for prevention and treatment of Allergic disease.

아버지의 미취학자녀 돌봄시간 변화 추이 분석(2004-2019)

이정은,서지원,Lee, Jung-eun,Seo, Jiwon 한국가족자원경영학회 2021 가족자원경영과 정책 Vol.25 No.3

Recently, the importance of the fathers role in the care of young children has been emphasized in Korea for the balance of childcare responsibilities between mothers and fathers. This study investigates the trends in paternal childcare in Korea over the last 15 years. Childcare is divided into primary and developmental care and fathers's Childcare time and participation rates are inverstigated for dual- and single-income households. Data are collected from the four waves of the five-yearly Statistics of Korea Life Time Surveys between 2004(t₁) and 2019(t₄) including the workday time diaries of fathers with preschool children(n₁=2,264, n₂=1,242, n₃=959, n₄=952). Three major results are identified. First, paternal childcare time and participation rates have increased with dual-income fathers spending 24 more minutes a day with their young child(ren) in 2019 than in 2004, which is nearly double. Second, in the analysis of fathers' childcare time use and participation rates comparing primary and developmental care, primary care is found to have increased more than developmental care, especially among dual income fathers: this further exhibits a reversed relation between primary and developmental care over time. Third, the determinants of paternal childcare time are fathers' age, market labor time, commuting time, gender equality consciousness, and education. In particular, market labor time was significant in all four waves, while gender equality consciousness is only significant for single-income fathers. Based on these results, a specific agenda is provided for family-friendly policies to improve the balance of childcare roles between fathers and mothers, especially encouraging increased(significant and sufficient) participation of fathers in primary care activities.

ISO 15489 개정판의 주요 특징에 관한 연구

이정은,윤은하,Lee, Jung-eun,Youn, Eun-ha 한국기록학회 2018 기록학연구 Vol.0 No.57

기록을 둘러싼 업무환경의 변화, 조직의 변화, 시스템의 변화 등은 기록 에 대한 개념을 변화시켰다. 2001년도에 제정된 기록관리 국제표준인 ISO 15489 역시 이에 조응하기 위해 15년 만에 개정을 이루었다. 본 연구는 2016년에 개정된 기록관리 국제표준인 ISO 15489를 통해 급변하는 디지털 혁명 속에서 기록을 바라보는 개념의 변화를 살펴보고자 하였다. ISO 15489의 개정 배경 및 개정 전·후의 조항을 검토하고, 확장된 기록의 개 념을 살펴봄으로써 구체적으로 개정판이 추구하는 바를 알아보고자 한다. A new digital work environments, organizational changes, and system changes surrounding the records have changed the concept of records. ISO 15489, the international standard for records management established in 2001, has also been amended in 15 years to accommodate this. The study examines the characteristics of the revised ISO 15489, its elements and concept, in 2016. By comparing the old and new elements of ISO 15489 in detail, we intend to understand the nature of the revision and the basic framework of new standard.

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.

북방수염하늘소(Monochamus saltuarius), 솔수염하늘소(Monochamus alternatus), 털두꺼비하늘소(Moechotypa diphysis) 성충의 표피탄화수소 비교

이정은,김은희,윤창만,김길하,Lee, Jeong-Eun,Kim, Eun-Hee,Yoon, Chang-Mann,Kim, Gil-Hah 한국응용곤충학회 2010 한국응용곤충학회지 Vol.49 No.3

북방수염하늘소, 솔수염하늘소, 털두꺼비하늘소 성충 암·수의 표피탄화수소를 GC와 GC-MS로 분석하고 비교하였다. 북방수염하늘소와 솔수염하늘소는 소나무재선충병의 대표적 매개충이지만 같은 과에 속한 털두꺼비하늘소는 그렇지 않다. 이들은 표피탄화수소 사슬을 다르게 가지고 있는데, 북방수염하늘소의 표피탄화수소 사슬은 $C_{23-35}$, 솔수염하늘소는 $C_{25-32}$, 그리고 털두꺼비하늘소는 $C_{23-29}$로 종간 차이를 보였다. 주 구성성분의 암 수간 차이에서 함량에 대한 차이는 있었지만, 조성에 대한 차이는 없었다. 북방수염하늘소는 n-pentacosane > n-nonacosane > n-heptacosane, 솔수염하늘소는 n-nonacosene > n-pentacosane > n-nonacosane을 가장 많이 포함하고 있었으며, 털두꺼비하늘소는 n-heptacosane > 13-methylheptacosane > 3-methylheptacosane을 가장 많이 포함하고 있는데 반해 n-nonacosene, n-pentacosane의 함량은 적었다. 3종하늘소 표피의 대부분은 n-alkane인 포화탄화수소로 이루어져 있고(40.2 - 65.7%) 그 다음으로, 북방수염하늘소와 솔수염하늘소는 하나 또는 두 개의 이중결합을 갖는 olefins > monomethylalkanes 순이었다. 이와 달리, 털두꺼비하늘소는 monomethylalkanes > olefins 순으로 함량에 차이가 있었다. Cuticular hydrocarbons (CHCs) of the pine sawyer (Monochamus saltuarius), Japanese pine sawyer (M. alternatus) and oak longicorn beetle (Moechotypa diphysis) were analyzed by GC, GC-MS and compared. Monochamus beetles are typical vectors of pine wilt disease but Moechotypa diphysis, which belongs to the same family, is not. They possess different CHCs in carbon number: 23-25 in M. saltuarius, 25-32 in M. alternatus, and 23-29 in M. diphysis. In comparison to inter-species, these three species of adult beetles have different numbers and chains of constituents of CHCs. In comparison between male and female in intra-species, the quantities of CHCs show the difference but constituents are not. Major constituent of M. saltuarius were analyzed as n-pentacosane > n-nonacosane > n-heptacosane; those of M. alternatus were n-nonacosene > n-pentacosane > n-nonacosane; and those of M. diphysis were n-heptacosane > 13-methylheptacosane > 3-methylheptacosane. From the body surface, most saturated carbohydrates of 3 species beetles are composed of n-alkane (40.2 - 65.7%) and followed by olefines > monomethylalkanes that one or two double bonds in M. saltuarius and M. alternatus. Otherwise, M. diphysis have the difference in order of monomethylalkanes > olefins.

Streptomyces sp. J46의 세균성구멍병원균 Xanthomonas arboricola pv. pruni에 대한 항균 활성

이정은,임다정,김인선,Lee, Jeong Eun,Lim, Da Jung,Kim, In Seon 한국환경농학회 2021 한국환경농학회지 Vol.40 No.1

BACKGROUND: Bacterial shot hole of stone fruits is a seriuos plant disease caused by Xanthomonas arboricola pv. pruni (Xap). Techniques to control the disease are required. In this study, microorganisms with antibacterial activity were isolated to develop as a microbial agent against the bacterial shot hole. METHODS AND RESULTS: An isolate with the strongest activity among the isolates was identified as Streptomyces avidinii based on 16S rRNA gene sequence analysis and designated Streptomyces sp. J46. J46 showed suppression of bacterial leaf spot with a control value of 90% at 10 times-diluted cell free supernatant. To investigate antibacterial metabolites produced by J46, the supernatant of J46 was extracted with organic solvents, and the extracts were subjected to chromatography works. Antibacterial metabolites were not extractable with organic solvents. Both reverse and normal phase techniques were not successful because the metabolites were extremely water soluble. The antibacterial metabolites were not volatiles but protein compounds based on hydrolysis enzyme treatment. CONCLUSION: Our study suggests that Streptomyces sp. J46 may be a potential as an microbial agent against bacterial shot hole. Further study to identify the metabolites is required in more detail.