임상적으로 진단된 다발성 골단이형성증 1례

김선자,조성윤,김진섭,허림,권영희,이지은,심종섭,김옥화,진동규,Kim, Sun-Ja,Cho, Sung Yoon,Kim, Jinsup,Huh, Rimm,Kwun, Younghee,Lee, Jieun,Shim, Jongsup,Kim, Ok-Hwa,Jin, Dong-Kyu 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.1

다발성 골단이형성증은 비교적 흔한 골이형성증으로 소아기에 관절통과 관절 강직, 뒤뚱거리면 걸어가는 보행 및 일부에서 경한 저신장을 특징으로 하며 영상의학적 검사에서는 여러 관절에서 골단의 불규칙한 소견과 골화 지연을 보인다. 본 증례 환자는 임상적, 영상의학적으로 다발성 골단이형성증을 진단 할 수 있었으며 환자의 넓적다리 관절 영상 검사는 MATN3 유전자 변이를, 무릎 관절 영상 검사는 COMP 유전자 변이를 시사하였기에 MATN3과 COMP 유전자 변이에 대해 시퀀싱(sequencing)을 하였으나, 변이는 발견되지 않았다. 이후 엑솜시퀀싱(exomesequencing)을 시행하였으나, 기존에 다발성 골단이형성증과 관련이 있는 것으로 알려진 유전자에 대한 변이가 발견되지 않았다. 본 증례와 같이 임상적, 영상의학적으로 다발성 골단이형성증으로 진단가능 하였으나 분자유전학적으로 기존에 알려진 변이 유전자가 발견되지 않은 환자들을 위해 추가적인 연구가 필요할 것으로 보인다. Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

선박용 엔진 제조업 들기작업의 인간공학적 위험 평가를 위한 세 가지 방법 비교

김선자 ( Sun Ja Kim ),신용철 ( Yong Chul Shin ),김부욱 ( Boo Wook Kim ),김현동 ( Hyun Dong Kim ),우지훈 ( Ji Hoon Woo ),강동묵 ( Dong Mug Kang ),이현석 ( Hyun Seok Lee ) 한국산업위생학회 2005 한국산업보건학회지 Vol.15 No.2

A variety of ergonomic assessment methods of lifting tasks known as a major cause of work-related lower back pain have been used. But there is a limited information in choosing the most appropriate assessment method for a particular job and in finding out strengths and weakness of the methods. The purpose of this study was to assess and compare the ergonomic risks of lifting tasks in a marine diesel engine production industry by three lifting ergonomic assessment tools widely used: the National Institute for Occupational Safety and Health(NIOSH) Revised Lifting Equation(NLE), the Washington Administrative Code 296-62-051 7(WAC), and the Snook Tables. Lifting index(weight of load/Recommended Weight Limit) of NLE(LI(NLE)) was above 1 at 34 tasks(75.6%) of a total number of 45 lifting tasks. LI of WAC(LI(WAC)) was above 1 at 11 tasks(24.4 %). LI of Snook Table(Ll(snook)) was above 1 at dy 29 tasks(64.4%). Thus, LI was high in orders of LI(NI) > LI(snook) > Ll(WAC). There were significantly high correlations among three Lls(p<0.0l). The correlation coefficients between LI(NLL) and the other three Lls(LI(WAC) and Ll(snook)) were r=0.93 and r=0.88, respectively. The linear regression equations were y=0.444x+0.11(r=0.93) between Ll(NLE), and Ll(WAC), Y=0.93x+0.008(r=0.88) between Li(NLE) and Ll(snoock). The Ll values by WAC was significantly lower than those by the other tools. The compared features, strength and limitation among these tools were described in this paper.

관상동맥우회술 시행환자의 중증도 보정 재원일수 변이에 관한 연구

김선자 ( Sun Ja Kim ),강성홍 ( Sung Hong Kang ),김원중 ( Won Joong Kim ),김유미 ( Yoo Mi Kim ) 한국품질경영학회 2011 품질경영학회지 Vol.39 No.3

Our study was carried out to analyze the variation factors of severity-adjusted length of stay(LOS) in coronary artery bypass graft(CABG). The subjects were 932 CABG inpatients of the Korean National Hospital Discharge In-depth Injury Survey from 2004 through 2008. The data were analyzed using χ² test and the severity-adjusted model was developed using data mining technique. The results of the study were as follows: male(71.1%), older than 61 years of age(61.6%), more than 500 beds(92.8%) and admitting via ambulatory care(70.0%) appeared to have higher rate than otherwise. In-hospital mortality of CABG inpatients was 2.8%. In addition, 46.4% of the patients received their care in other residence. The angina pectoris(45.6%) was found to be the highest in principle diagnosis, followed by chronic ischemic heart disease(36.9%) and acute myocardial infarction(12.0%). We developed severity-adjusted LOS model using the variables such as gender, age and comorbidity. Comparison of adjusted values in predicted LOS revealed that there were significant variations in LOS by location of hospital, bed size, and whether patients received the care in their residences. The variations of LOS can be explained as the indirect indicator for quality variation of medical process. It is suggested that the severity-adjusted LOS model developed in this study should be utilized as a useful method for benchmarking in hospital and it is necessary that national standard clinical practice guideline should be developed.

75[㎾]급 캐패시터리스 인버터 개발

김선자(Sun-ja Kim),김정하(Jeong-ha Kim),김경서(Kyung-seo Kim),유안노(Anno Yoo),설승기(Seung-ki Sul) 전력전자학회 2008 전력전자학술대회 논문집 Vol.- No.-

직류단 전원(DC link)에 대용량의 전해 캐패시터(Electrolytic capacitor)를 사용하지 않는 전해 캐패시터리스(Electrolytic-Ca pacitorless) 인버터는 기존의 인버터에 비해서 가격, 부피 면에서 장점을 갖는다. 하지만 인버터의 용량이 커질수록 입력 저역 통과 필터(Low Pass Filter : LPF)와 주기적인 맥동을 가지는 직류단 전원의 영향을 받는다. 본 논문에서는 75[㎾]급 캐패시터리스 인버터를 개발하여 이러한 영향을 억제할 수 있는 방법을 제시하고, 실험 결과를 통하여 개발한 인버터의 타당성을 검증한다.

적색, 원적색 및 청색 LED 가 국화 배양소식물체의 생장 및 형태형성에 미치는 영향

김선자(Kim Sun Ja),허정욱(Heo Jeong Wook),백기엽(Paek Kee Yoeup) 한국원예학회 1999 원예과학기술지 Vol.17 No.5

LTTS 분류 활동에서 나타난 초등학교 2학년 학생들의 상호 작용 분석

김선자 ( Sun Ja Kim ),신재섭 ( Jae Sop Shin ),박종욱 ( Jong Wook Park ) 한국초등과학교육학회 2007 초등과학교육 Vol.26 No.4

서울시 고령친화도 평가연구

김선자 ( Sun Ja Kim ),김경혜 ( Kyung Hae Kim ),김현정 ( Hyun Jung Kim ) 서울시정개발연구원 2008 연구보고서 Vol.2008 No.35

Communities around the world are in the midst of major demographic transformation, and Seoul is no exception. People in Seoul are living longer and healthier. Despite the various needs of an aging population, however, we often limit our view of aging policy to topics of helping the poor and frail elderly, Recent trends in aging policy emphasizes the society`s responsibility to provide comprehensive supports that help improve older adults` quality of life. A graying population, in fact, has created a need for elder-friendly community (EFC) that is a framework for creating communities where older adults can enjoy healthy, independent, productive and satisfying lives. The idea of an EFC builds on an active ageing framework. Active aging depends on a variety of influences or determinants that surround individuals, families and societies including physical conditions as well as social factors. Many aspects of urban settings and services, specifically, reflect the characteristic features of an EFC. Studies on EFC also showed that an elder-friendly town or city not only has a range of services in place that supports older adults, but is also marked by a climate of acceptance that honors elders` contributions to community life. In the community planning process of EFC, the assessment is an essential component. The purpose of this study is to examine the community`s elder-friendliness in Seoul, specifically from the perspective of older people themselves. Comprehensive assessment of the city`s elder-friendliness would identify where and how the city can become more elder-friendly. Key components of an elder friendly community had been identified by analyzing the previous researches and literatures. The components cover the features of the city`s structure, environment, service and policies. For the purpose of this study, ten key components were identified and 49 items related to those components were developed to examine the community`s elder-friendliness. Surveys with 1,028 older citizens aged 60 and older were conducted to assess the community`s elder-friendliness in Seoul. Results from the survey illustrated the advantages and barriers that older people experienced in Seoul. Based on the survey results, policy recommendations were made as followings: ːencouraging social participation of the elderly ːpromoting social recognition of the elderly`s contribution to the city life ːexpanding social services responding to various needs of the elderly ːdeveloping policies to ensure the basic needs of the elderly.

연령증가에 따른 지능의 변화

김선자(Sun ja Kim),윤진(Gene Yoon) 한국노년학회 1992 한국노년학 Vol.12 No.2

This study has two major purposes : 1) Investigating the relationship between the Practical intelligence(PI) and the traditional intelligence test scores, and 2) the effect of the various variables influencing the PI. For it, the "Everyday Problem Solving Inventory(EPSI)" consisted of 12-problem situations, was constructed from three age groups : the young adult, the middle-aged and the elderly. The fluid intelligence was measured by the block design subscale and the crystallized intelligence by the vocabulary test subscale of the Korea Wechsler Intelligence Scale(KWIS) respectively. The subjects are 30 male college students(Mean age=21.50) and 30 male elderlys(Mean age=65.25). Each subject was requested to provide his alternatives to 12 problem situations. And each situation was rated on the dimensions of familiarity, controllability and anxiety level by Likert-type 7 point scale. Among three measures, there was a significant correlation between EPSI and crystallized intelligence scores only. And there was no significant age difference in EPSI scores, and only "familiarity" variable out of the three has significant correlation with the EPSI score. It can be concluded that PI does not decrease with age, but is determined by degree and quality of the experience. And there was little interaction between age and the domain of the problem, social or nonsocial. 본 연구는 성인기 지능의 중요한 측면으로 간주되는 실제적 지능과 전통적인 지능검사로 평가되는 지능과의 상관을 밝히고, 실제적 지능의 한 지표인 일상적 문제해결 수행에 영향을 미치는 제 변인의 효과를 알아보는데 목적이 있다. 20대 대학생(평균연령=21.50) 30명과 60대 성인 30명(평균연령=65.25)에게 KWIS검사의 소검사(어휘와 토막짜기)를 시행하여 결정화된 지능과 유동성 지능을 평가하였고, 12개의 문제상황으로 구성된『일상적 문제해결 검사』에서는 각 문제상황에 대한 해결대안을 제시하게 하였다. 또한『일상적 문제해결』의 수행에 영향을 미치는 행동적/인지적/정서적 변인의 효과를 알아보기 위해 각 문제상황에 대한 친숙성, 통제감, 불안수준의 정도를 평정하게 하였다. 그 결과, 『일상적 문제해결 검사』의 수행과 결정화된 지능검사 수행간에 유의미한 정적 상관이 있었고, 일상적 문제해결검사 수행은 성인초기와 노년집단간 유의미한 차이가 없었으며, 연령, 문제상황에 대한 친숙성, 통제감, 불안수준의 변인들 중 친숙성만이 일상적 문제해결 수행을 예언할 수 있었다. 이러한 결과는 성인의 일상적인 문제해결 능력(즉 실제적인 지능)이 연령증가에 따라 쇠퇴한다기보다 문제에 대한 경험 유무에 의해 결정됨을 시사한다. 한편, 본 연구에서는 일상적인 문제의 영역-사회적/비사회적 문제- 이 연령과 상호작용하여 수행에 영향을 미친다는 가설은 확인되지 못했다.

인터넷 정보가전용 RTOS 기술 현황

김선자(Sun-Ja Kim),김흥남(Heung-Nam Kim),김채규(Chae-Kyu Kim) 한국정보과학회 2001 정보과학회지 Vol.19 No.4

생각하는 과학 프로그램의 보상 논리 활동에 의한 보상적 사고 수준 변화

김선자(Sun Ja Kim),이상권(Sang Kwon Lee),박종윤(Jong Yoon Park),강성주(Seong Joo Kang),최병순(Byung Soon Choi) 한국과학교육학회 2002 한국과학교육학회지 Vol.22 No.3

The purpose of this study was to analyze the development of the compensational thinking by the compensation activities of `Thinking Science` program. The 138 students were sampled in elementary schools and were divided into two groups, the experimental group of 74 students and the control group of 64 students. Both the compensation activities of the `Thinking Science` program and a regular science curriculum were implemented to the experimental group, while only a regular science curriculum to the control group. Both experimental and control group were pre-tested with Science Reasoning Task Ⅱ and compensational thinking test Ⅰ and were post-tested with compensational thinking test Ⅱ. This study revealed that the types of strategies used in compensation problem solving were categorized as illogical explanation, rule automation, proportionality, explanation in qualitative terms, additive quantification, inverse proportionality and were related to the context of the items. It was found that compensation activities of the `Thinking Science` program were effective on the development of the compensational thinking.