• 대한간호
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• 제31권3호
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• pp.76-87
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• 1992

The purposes of study was: 1. To identify the direction and scope of research activities in Korean Nursing. 2. To discuss the unique problems present in Korea that warrant nursing research. 3. To delineate the factors that facilitate and/or hinder nursing research in Korea. This study was conducted at six colleges of nursing in Korea. The schools which were selected had doctoral programs at the time, the data were collected in 1990. Four of the schools were located in the metropolitan area of the capital city, Seoul, and two were in two other cities similar in size. The total population of the study was 283 nurses. The instrument for the research was the English version of Research Profile Questionnaire which was translated into Korean by the researchers and was validated in its translation by two professors. A pretest procedure was done before the data collection process. Of the population of 283, 210 subjects received the questionnaire and 150 subjects responded(71.4%). Excluding incomplete questionnaires, 141 questionnaires were utilized for data analysis. Data were analyzed using descriptive statistics. Responses to open-ended questions were content analyzed for themes and categories. Results of the study were as follows : Respondents currently , involved in nursing research numbered 108(76.6%), but 33(23.4%) did not have any research experience. The inexperienced respondenLs tended to be younger than the experienced subjects and most( 60.6%) were employed in hospitals, while 82.4 percent of the experienced nurses were employed in nursing schools. Among the respondents with research experience, 68.5 percent were involved in one to three projects and 31.5 percent were engaged in four or more projects. The experienced nurses indicated that nursing research in Korea is active. On the other hand, the responses of the inexperienced were that nursing research is not active. The most frequently selected research subjects were patients(76.9%, 83 respondents) followed by nurses, healthy persons and nursing students. The relatively high percentage of healthy persons as study subjects, could be explained as a concern of nurses for healthy persons as well as for ill patients. The aforememioned literature review showed a dramatic change in the kinds of study subjects; approximately 33 percent were patients but 25 percent were healthy subjects of various ages. The hospital was the prevailing research setting(67.6%) but at the same time various community settings were used. This is a changing phenomena in nursing research of Korea. Current research designed to build on previous studies amounted to 75 percent; about 39.8 percem were theory and hypothesis generated. Over 65 recommended additional research focusing on hypothesis-testing 0:' theory building. The previously quoted literature review found that only 4.0 percent of the study quescions were developed from a theoretical framework. The most frequently listed current major focus of nursmg research was stress and adaptation. Patients with cancer, pain, social support and care of the elderly were the next most frequently reported. These concerns may reflect problems associated with a technological and industrializing societyl. The most frequently identified problem was lack of clinical research. The need for replication research and research that contributes to the accumulation of nursing knowledge were found to be rare in Korean research. A need for theory testing and theory construction research was also identified. Although advanced statistical methods were often utilized in nursing research, the results were frequently considered by the interviewers not to be applicable in practice, and readers had difficulty in comprehending the findings. Even though the number of clinical nurses involved in research is increasing, it is still considered inadequate. Among 108 respondents, 83(76.9%) gave lack of time as a barrier to conducting nursing research. Over fifty percent of the respondents reported lack of funding or, personally, low confidence in research skills as barriers. The respondents offered 183 suggestions for future emphasis in nursing research. Among the 51 areas of emphasis, clinical research received the highest number and nursing intervention was next. The findings suggested that nursing research should be based on theory, be related to practice and relevant to the situation of a unique Korean culture.

• 대한유전성대사질환학회지
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• 제23권1호
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• pp.25-30
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• 2023

아미노아실-tRNA 합성효소는 단백질을 만드는 번역(translation)단계에서 아미노산을 활성화시키고 적절한 아미노산을 해당 tRNA에 결합을 시키는 중요한 효소이며, IARS2 유전자는 미토콘드리아에서 작용하는 isoleucylt-RNA 합성효소를 코딩하는 핵의 유전자이다. IARS2 유전자의 돌연변이는 백내장, 성장 호르몬 결핍, 감각 신경병증, 감각신경성 난청, 골격 형성 이상 증후군의 특징을 보이는 CAGSSS (MIM#616007)라는 희귀 질환의 원인으로 상염색체 열성으로 유전된다. 현재까지 이 증례 보고를 포함하여 29명의 환자만이 보고가 되었음에도 단지 백내장의 증상만 나타냈던 환자, 그리고 신경학적 증상이 두드러지는 Leigh 증후군을 유발하면서 여러 장기에 영향을 주는 환자 등 다양한 임상 증상의 환자가 보고되었다. Leigh 증후군은 드문 진행성 신경 퇴행성 미토콘드리아 질환이다. 이 연구는 IARS2 연관된 Leigh 증후군의 환자에서 방광 기능의 이상의 표현형을 보고하는 첫 증례 보고로 의미가 있다. 5세의 한국인 여아는 복부 팽만을 동반한 복통으로 응급실에 내원하였으며, 복부CT에서 명백한 폐쇄 증상, 급성 신장염, 요로감염의 징후가 보이지 않으면서 현저하게 팽창된 방광이 확인 되었다. 여아의 발달 상태는 발달 저하를 보이면서, 6개월에 뒤집기가 가능하였지만 이후는 신경학적 퇴행으로 내원당시에는 목 가누기도 되지 않고, 의미 있는 단어를 말하지도 못하는 전반적인 발달 지연 상태였다. 2세에는 양쪽 눈의 백내장이 발생하여 수술한 과거력이 있었다. 뇌 MRI T2 강조영상에서는 양쪽에 대칭적으로 기저핵(basal ganglia)에 고신호를 보였고, 이는 Leigh 증후군에 전형적인 영상의 특징이다. Whole mitochondrial genome의 유전자검사를 시행했지만 의미 있는 돌연변이가 확인되지 않았으므로, Whole exome sequencing 검사를 시행했으며, IARS2 유전자의 이중대립유전자 돌연변이(biallelic mutation), c.2446C>T (p. Arg816Ter)와 c.2450G>A (p. Arg817His)가 확인이 되었고 부모님은 보인자였다. 현재까지 IARS2 유전자의 돌연변이를 가지는 환자 중에서 신경학적 발달 저하, 인지장애 등의 증상이 동반된 환자는 신체의 다중장기질환의 증상으로 심비대, 부정맥, 빈혈, 측만증, 청력 저하, 뇌전증, 부갑상선저하증이 알려졌으나, 이 연구에서 IARS2 유전자 돌연변이를 가진 환자에서 배뇨근의 이상을 동반한 과민성방광증상을 확인하여 방광이상증상을 처음 보고를 한다. IARS2 유전자의 이상이 확인된 환자에서는 하부요로이상증상이 동반 가능성에 대해서 인지하는 것이 필요하고, 증상이 보이면 배뇨 일지나 요역동학검사를 통해서 조기에 진단 및 치료가 환자의 관리에 필요할 수 있다. 이 증례 보고는 IARS2 유전자의 임상 양상의 확대 및 유전자의 이해를 넓히는데 기여할 것으로 기대된다.