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.-

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.

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.

삼자화담전(三子化痰煎)이 천식모델 생쥐의 면역세포에 미치는 영향

이정은,박양춘,Lee, Joung-Eun,Park, Yang-Chun 대한한방내과학회 2008 大韓韓方內科學會誌 Vol.29 No.3

Objective: The purpose of this study was to evaluate the effect of Samjawhadam-jeon (SJHDJ; 三子化痰煎) on immune cells in OVA-induced asthmatic mice. Material and Methods : C57BL/6 mice were injected, inhaled and sprayed with OVA for 12 weeks (four times a week) for asthma induction. Two experimental groups were treated with different concentrations of SJHDJ group (400 mg/kg) extracts and cyclosporin A (10 mg/kg) for the latter 8 weeks. At the end of the experiment, the mouse lung. peripheral lymph node (PLN) and spleen were removed and immune cells were analyzed by flow cytometer. Results : Lung weight, total cells in lung, PLN, and spleen of the SJHDJ group decreased significantly compared with that of the control group. Number of $CD3e^+/CD69^+$, $CD3e^+/DX5^+$ cells in lung, PLN and spleen, number of $CD3^+$ cells in PLN and spleen, number of $CD3e^-/CCR3^+$ cells in lung and PLN, and number of $B220^+/IgE^+$ cells in PLN of the SJHDJ group decreased compared with that of the control group. Number of $CD4^+/CD25^+$ cells in PLN and spleen of the SJHDJ group increased compared with that of the control group. Conclusion : These results demonstrate that SJHDJ will be a desirable alternative therapy for allergic asthma by inhibiting the expression of immune cells.

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.

구강작열감증후군 환자의 미각 이상과 비기허증(脾氣虛證)의 상관관계

이정은,박재우,김진성,Lee, Jung-eun,Park, Jae-woo,Kim, Jin-sung 대한한방내과학회 2017 大韓韓方內科學會誌 Vol.38 No.4

Objectives: This study evaluated the correlation between taste function and spleen qi deficiency in patients with burning mouth syndrome (BMS) and compared subgroups of BMS (i.e., dysgeusia and non-dysgeusia subgroups). Methods: This study included 60 participants categorized into two groups: a BMS group and healthy control (HC) group. Taste threshold was measured within six levels using solutions of four basic taste qualities. Subjects' Oral Health Impact Profiles (OHIPs-14) and Spleen qi Deficiency Questionnaire (SQDQ) scores were analyzed. Results: Taste thresholds for sweet (sucrose) and salty (NaCl) tastes were significantly lower in the BMS group than in the HC group, but sour (citric acid) and bitter (quinine HCl) tastes showed no significant differences between groups. In the dysgeusia and non-dysgeusia subgroups, no significant differences in the four basic taste thresholds were found. SQDQ scores were significantly higher in the BMS group compared to the HC and in the dysgeusia group compared to the non-dysgeusia group. OHIPs-14 and SQDQ scores for the BMS group were significantly and positively correlated. Conclusions: Spleen qi deficiency is related to taste function and can be used to treat BMS patients with taste dysfunction.

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.