A Case of Congenital Nephrogenic Diabetes Insipidus Confirmed by Gene Analysis

조은영,오진희,고대균 대한소아청소년과학회 2005 Clinical and Experimental Pediatrics (CEP) Vol.48 No.6

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide (65 mg/m2), amiloride (0.3 mg/kg/d) and indomethacin (100 mg/m2), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria. 유전자 분석검사로 확진된선천성 신성 요붕증 1례가톨릭대학교 의과대학 소아과학교실조은영·오진희·고대균신성 요붕증은 항이뇨호르몬의 정상적 분비에도 불구하고, 신장의 집합관의 항이뇨호르몬에 대한 반응이 저하되어 요농축능에 이상이 초래되는 질환이다. 특히 선천성 신성 요붕증은 대게 반성 열성 유전 양식을 따르는 유전 질환으로 매우 드물어 소아에서는 간헐적 보고만 있어 왔다. 어린 소아에서는 증상이 비특이적일 수 있고, 임상적 진단도 쉽지 않은데, 최근에는 항이뇨 호르몬 수용체 유전자의 돌연변이들이 확인되어 유전자 검사로 확진이 가능하게 되었다. 기존의 보고들은 선천성 신성 요붕증이 진단된 환아들에 대한 이뇨제나 비스테로이드성 항염증제 등을 포함한 치료가 이루어진 증례보고이었으나 이들의 치료 후 장기적 추적 결과 보고가 극히 드물며, 이들 약제에 의한 치료 효과는 낮은 것으로 알려져 있다. 저자들은 극심한 이뇨로 인한 이차적 요로기관의 변형이 초래되었던 8세 소아에서 환아와 엄마의 말초 혈액 유전자 분석 검사상 Xq28 염색체 부위의 AVPR2 유전자의 돌연변이가 확인되었고 hydrochlorothiazide, indomethacin 및 amiloride 병합 치료 후 배뇨량은 하루 12리터에서 4리터로 감소하였고, 성장 발육도 정상이었으나 더 이상의 호전이 없고 일상 생활에 불편함이 지속되어 보조적 방광루 형성술을 시행받은 후, 증상 호전 및 심리적 안정을 얻었던 심한 선천성 신성 요붕증 1례의 5년간의 추적 관찰 결과를 보고하는 바이다.

“가족의 서비스 욕구와 지역사회 자원”에 관한 토론 1 ( 조은영 )

조은영 한국정신보건사회복지학회 1998 춘계 학술대회 및 수련교육 Vol.1 No.-

한국어, 영어, 스페인어, 러시아어에 나타난 초점구조와 정보분절성

조은영 현대문법학회 2004 현대문법연구 Vol.37 No.-

This paper aims at revisiting the information structure of sentences in languages such as Korean, English, Spanish and Russian. For this purpose, we refered to three types of focus structure, suggested by Lambrecht (1994), which include predicate-focus, argument-focus and sentence-focus structures. The information structure can be represented by the categorical statement and the thetic statement. The first is divided into two information segments— <topic> and <comment>, which typically corresponds to predicate-focus structure, while the second can not be divided but constitutes only one unit <comment>, which represents the sentence-focus structure. Given that the existence of topic is the factor of determining categorical/thetic statements, there ll be possibility of interpreting certain argument-focus structures as secondary thetic sentences and of considering some of Lambrecht s thetic structures as categorical sentences. On the other hand, the linguistic ways to realize the information division vary across languages, even if they are commonly available in affirming or negating the existence of ‘topic’.

도시재생 시민참여과정 비교분석

조은영,강지선,김광구 한국정책분석평가학회 2018 한국정책분석평가학회 학술대회발표논문집 Vol.2018 No.4

The Effect of DPP-4 Inhibitors on Metabolic Parameters in Patients with Type 2 Diabetes

조은영,조영인,최윤정,윤유정,왕혜진,권오빈,이병완,안철우,차봉수,이현철,강은석 대한당뇨병학회 2014 Diabetes and Metabolism Journal Vol.38 No.3

Background: We evaluated the effects of two dipeptidyl peptidase-4 (DPP-4) inhibitors, sitagliptin and vildagliptin, on metabolic parameters in patients with type 2 diabetes mellitus. Methods: A total of 170 type 2 diabetes patients treated with sitagliptin or vildagliptin for more than 24 weeks were selected. The patients were separated into two groups, sitagliptin (100 mg once daily, n=93) and vildagliptin (50 mg twice daily, n=77). We compared the effect of each DPP-4 inhibitor on metabolic parameters, including the fasting plasma glucose (FPG), postprandial glucose (PPG), glycated hemoglobin (HbA1c), and glycated albumin (GA) levels, and lipid parameters at baseline and after 24 weeks of treatment. Results: The HbA1c, FPG, and GA levels were similar between the two groups at baseline, but the sitagliptin group displayed a higher PPG level (P=0.03). After 24 weeks of treatment, all of the glucose-related parameters were significantly decreased in both groups (P=0.001). The levels of total cholesterol and triglycerides were only reduced in the vildagliptin group (P=0.001), although the sitagliptin group received a larger quantity of statins than the vildagliptin group (P=0.002).The mean change in the glucose- and lipid-related parameters after 24 weeks of treatment were not significantly different between the two groups (P=not significant). Neither sitagliptin nor vildagliptin treatment was associated with a reduction in the high sensitive C-reactive protein level (P=0.714). Conclusion: Vildagliptin and sitagliptin exert a similar effect on metabolic parameters, but vildagliptin exerts a more potent beneficial effect on lipid parameters.

한국인의 체지방 및 제지방 무게에 미치는 유전적 영향 분석

조은영,박현영,지선하,장연수,배수진,이종호,장양수 한국지질동맥경화학회 2001 韓國脂質學會誌 Vol.11 No.4

문화예술 분야에서의 SNS 활용 사례연구 - 문전성시 프로젝트의 SNS 활용 사례

조은영 한국문화예술경영학회 2012 한국문화예술경영학회 학술대회 Vol.2012 No.1

미국 만국박람회에서의 일본 일본신화 만들기와 문화정책

조은영 미술사학연구회 2002 美術史學報 Vol.- No.18

[성음악의 숨결] 2023년, 전례음악 발전을 위한 방향성 제시

조은영 미래사목연구소 2023 사목정보 Vol.16 No.1

釜山市所在のB大学の日本漢字授業の運営について ― 専攻選択教科目の「実用日本漢字」を事例として ―

趙恩英 한국일본어교육학회 2020 日本語敎育 Vol.0 No.92

The purpose of the present article is to consider the results after surveying the learners’ awareness for the learners’ activities & instructors’ feedbacks concerning the operation of the major elective of Japanese Kanji class. (1) The leaners who thought the activity① of expressing the event during a weekend in four key words to be helpful accounted for 84.5%. Through the activity①, it has been revealed that viewing an individual’s routine in Kanji was helpful to familiarization of Kanji providing an opportunity for familiarization with and review of the frequently-used Kanji and that comfortable access to Kanji was enabled. In addition, it was found to have become an opportunity for communication among the learners, allowing the learners to pleasantly learn and become proficient in Kanji with intimacy. (2) Concerning the activity② of using Kanji in a concentrated manner, 98.6% gave a positive rating. Unlike the expectation where the learners might feel the act of writing Kanji as a simple operation so as to have dissatisfaction or feel bothersome, it was discovered to be perceived as a meaningful activity for Kanji learning. (3) The learners considering the feedback time to be helpful for familiarization with Kanji accounted for 91.5%. It was learned that Japanese Kanji and Korean Chinese character became distinguishable after this time, Kanji susceptible to making a mistake along with precautions were recognized, and the time was provided for learning accurate usage of Kanji and living Kanji. In addition, his/her own Kanji capability could be seen objectively as the learners of the whole class get to recognize the use situations for Kanji, and it was shown to have been the time where the confidence in Kanji was connected with the desire for Kanji study.