PAH 유전자의 R53H 유전자변이를 보인 양성 고페닐알라닌혈증 10례

이지윤,이정호,이동환,Lee, Jiyun,Lee, Jeongho,Lee, Dong Hwan 대한유전성대사질환학회 2017 대한유전성대사질환학회지 Vol.17 No.1

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

동일인에서 한쪽 다리에만 압박스타킹을 착용했을 때 유발되는 다리 근육의 근전도 변화에 대한 정량적 분석

이지윤,육소희,유효경,홍남주,전인철,정동주,Lee, Ji-Youn,Yuk, So-Hee,Yoo, Hyo-Gyung,Hong, Nam-Ju,Jeon, In-Cheol,Jung, Dongju 대한임상검사과학회 2019 대한임상검사과학회지(KJCLS) Vol.51 No.2

Compression stockings are widely used for prevention of varicose vein. Depending on manufacture, there are diverse types of compression stockings available. Most common type of compression stocking might be the one cover calf of a lower leg which has 20~30 mmHg pressure. Despite being widely used, possible side effects that may occur by wearing compression stockings have not been studied much. We analyzed for a long wearing effect of compression stocking. Participants wore the compression stocking over one leg for 7 days. During the period, all the participants did their ordinary works wearing the compression stocking. Electrocardiogram (ECG), ankle-brachial index (ABI), blood pressure (BP), and electromyogram (EMG) were measured at 0 day, 3rd day and 7th day. There was no effect of wearing compression stockings from ECG, ABI or BP. Only EMG that was measured on the covered muscle increased proportionally to the wearing time. Interestingly, EMG from the opposite leg that had never been covered by compression stocking decreased in proportion to the wearing date. These results suggest wearing a compression stocking for varicose vein may cause unintentional increase or decrease of EMG from the wearing or non-wearing legs, respectively.

가족성 대장 용종증 3예

이지윤,이문호,황성규,김선주,구영무,송옥평,조무식,김창진 ( Jee Yun Lee,Moon Ho Lee,Seong Gyu Hwang,Sun Joo Kim,Young Moo Koo,Ok Pyung Song,Moo Sik Cho,Chang Jin Kim ) 대한소화기학회 1992 대한소화기학회지 Vol.24 No.3

Familial polyposis coli is a rare autosomal dominant disorder characterized by the development of hundreds to thousands of adenomatous polyps in the large bowel. Thease polyps will degenerated into adenocarcinoma, if untreated.Recently, this disease is recognized as the adenomatous polyposis syndrome which can involve the entire gastro-intestinal track. We experienced 3 cases of familial polyposis coli. Two of these three patients were accompanied with gastroduodenal adenomatous polyp and underswent surgical resection of colon.

여름철 천수만 해수에서 담수 대량 방류에 따른 영양염, 유기물 및 미량금속의 변화

이지윤,최만식,송윤호,LEE, JI-YOON,CHOI, MAN-SIK,SONG, YUNHO 한국해양학회 2019 바다 Vol.24 No.4

When the fresh water from the artificial lakes (Ganwolho and Bunamho) were discharged to Cheonsu Bay in summer to prevent the flood over the reclaimed farmland near the lakes, the impact on water qualities (nutrients, organic matters, trace metals) within the bay was investigated through four surveys (June, July, August and October, 2011). Dissolved inorganic nitrogen (DIN) increased about as much as 3-4 times over the whole water column when the freshwater was discharged. And the main species composition of DIN changed from ammonia to nitrate. Dissolved inorganic phosphorus (DIP) decreased as much as 2 times in surface waters, but increased as much as 1.5 times in deep waters, and also silicate concentrations increased as much as 3-4 times in deep waters of the inner bay. The N/P ratios in Chunsu bay seawaters were much higher (2 to 7 times) than the Redfield ratio when the freshwaters were discharged, which indicated the phosphorus limiting in the phytoplankton growth. Dissolved organic carbon (DOC) and nitrogen (DON) increased as much as about 2 times. In addition, particulate organic matters (POC, PON, POP, Bio-Si) increased as much as above 2 times in the surface waters of the inner bay. Trace metals (Fe, Mn, Co, Ni, Cu) increased in the surface waters of the inner bay, but dissolved Cd concentrations decreased as much as 2 times. Therefore, when the contaminated fresh waters from the artificial lakes were discharged into the bay, nutrients, organic matters and trace metals generally increased compared to normal period. Since the phytoplankton bloom occurred in the surface waters of the inner bay, dissolved oxygens at the surface waters were oversaturated and hence hypoxic in the deep waters. Highly enriched nutrients concentrations were found in deep waters of the inner bay, which was accompanied with the hypoxic condition. Finally, the water quality in the inner bay of the Chunsu bay was deteriorated from less than grade 3 in normal periods to grade 5 when the freshwaters from the artificial lakes were discharged in summer.

한방치료를 병행하여 항결핵제의 부작용을 관리한 비결핵 항산균증 환자 1례

이지윤,장권준,양정민,문향란,고은비,윤민지,조온유,정성헌,신광순,신동국,황우석,Lee, Ji-yoon,Jang, Kwon-jun,Yang, Jung-min,Moon, Hyang-ran,Ko, Eun-bi,Yoon, Min-ji,Jo, On-yu,Jeong, Seong-heon,Shin, Kwang-soon,Shin, Dong-guk,Hwang, Woo-se 대한한방내과학회 2021 대한한방내과학회지 Vol.42 No.5

Objectives: This study investigated the effect of combined Korean medical treatment and antibiotics on a patient diagnosed with nontuberculous mycobacterial lung disease. Methods: The patient had been treated with antibiotics since July 2020 concurrently with Maekmoondong-tang, Banhasasim-tang, Gwakhyangjunggi-san and Bojungikgi-tang. The improvement of symptoms was evaluated using scores for the numerical rating scale (NRS), the Medical Research Council (MRC) dyspnea scale, C-reactive protein (CRP) levels, and computed tomography (CT). Results: Following treatment, the NRS, MRC dyspnea scale and CT images significantly improved. Also, CRP levels remained in the normal range during treatment. Conclusions: Traditional Korean medical treatment combined with antibiotics could be effective for treating patients with nontuberculous mycobacterial lung disease.

특집 - 화학물질, 이제는 사전예방적으로 관리하여야 한다

이지윤,Lee, Ji-Yun (사)한국포장협회 2011 包裝界 Vol.218 No.-

식별제(Unimark 1494DB) 정량시험에서 파란색 색소(Orimax Blue 2N, Orimax Green 151), Quinizarin, 토파졸(P-250) 및 윤활유 원료(P-8)의 흡광도상승 효과

이지윤,김창종,Lee, Ji-Yun,Kim, Chang-Jong 대한약학회 2006 약학회지 Vol.50 No.5

There are three kinds of liquid petroleum marker which is extracted by the basic or acidic, and both developer. Korean marker, Unimark 1494 DB (marker) have been spectrophotometrically analysed by the determination of absorbance at 582 nm after base extraction by Unimark 1494 DB Developer C-5 (developer). Some blue dyes which have same reactive radical of marker and can be changed deep blue color in base developer extraction (BDE), may be increased absorbance at 582 nm, but dyes or markers which can be increased the absorbance, were not unclear. In this experiment, effects of three dyes or marker such as Orimax Green 151 (the mixture of CI Solvent Yellow 16 and CI Solvent Blue 70), quinizarin and Orimax Blue 2N (CI Solvent Blue 35), and two solvent such as topasol (P-250) and lubricant (P-8) on the absorbance were studied by HITACHI Recording Spectrophotometer U-3300. It shows that all of them increased absorbance at 582 nm after BDE. Absorbance at 582 nm can be showed 0.0544 by Orimax Green 151 at the concentration of 3.96 mg/l, quinizarin at the concentration of 1.38 mg/l, and Orimax Blue 2N at the concentration of 2.73 mg/l in the artificial petroleum (normal diesel oil: topasol: lubricant=2 : 4: 4), respectively. Absorbance, 0.0544 indicates that concentration of marker is 1.64 mg/l in the reference curves, respectively. And also these results can be showed that the artificial petroleum have about 10% cheep fuel such as kerosene which have marker (16.0 mg/l). Absorbance of P-250 was 0.01361-0.22842 depending upon the purchasing date, and that of P-8 was 0.05644. pH of developer was 14.83, and so this result indicates that Unimark 1494 DB is a base extractable petroleum marker, phenylazophenol (US Patent No. 5,252,106). In the BDE, the slight color of Orimax Blue 2N, Orimax Green 151 and quinizarin in artificial petroleum changed to deep bright blue color, respectively. These result indicate that the absorbance at 582 nm by BDE may be increased not only by azo, diazo, amine and ketone (anthraquinone, coumarin) dyes or markers, but also the contaminants of P-250 and P-8 which have same as reactive radical of dyes or markers.

DNR 결정 환자에 대한 간호사의 간호활동 변화

이지윤,장재인,Lee, Ji Yun,Jang, Jae In 한국호스피스완화의료학회 2017 한국호스피스.완화의료학회지 Vol.20 No.1

Purpose: The purpose of this study is to identify the changes to nursing activities of nurses on patients with DNR (Do-Not-Resuscitate) order and factors associated to the changes. Methods: Data were collected using a structured questionnaire for 173 nurses at general hospitals. Logistic regression analysis was performed on the data using SAS 9.4. Results: With 39 nursing activities, an average of 60.4 (34.9%) nurses reported an increase in the activities, 102.4 (59.2%) no change and 10.1 (5.9%) a drop. The activity increase was the greatest in the social area, and the physical area was where the activities decreased the most. The activity increase was associated knowledge competency (9 items), attitudes (2 items), practical competency (4 items) and work load (14 items were). Conclusion: To offer systematical care for DNR patients, it is necessary to expand nurses' knowledge through end-of-life education and adjust their workload and provide a support system at the department level.

POLICY & ISSUES 환경정책 - 환경복지 구현을 위한 환경보건정책 방향

이지윤,Lee, Ji-Yun 환경보전협회 2012 환경정보 Vol.402 No.-

전국적으로 도시화가 진전됨에 따라 아파트, 사무실 등 실내공간에서 생활하는 시간이 하루의 90%를 넘어서고 있어 실내 공간의 환경관리가 건강관리의 중요 요소로 등장하고 있으며, 저출산 고령화가 심화되면서 취약한 노년층 인구의 증가와 힘께 과보호를 받는 어린이 인구는 증가하고 있어 면역력 약화에 따른 질환 및 만성질환의 이환 기능성이 환경보건 분야의 새로운 과제로 등장하고 있다.

녹색화학으로의 전환 (GreenSHIFT) - 2009년도화학물질관리 정책 방향 -

이지윤,Lee, Ji-Yun 환경보전협회 2009 환경정보 Vol.31 No.381