영아기에 발견된 비타민 D 중독에 의한 고칼슘혈증 3례

최진호,염미선,한혜원,박영서 대한소아과학회 2004 小兒科 Vol.47 No.3

Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Yum, Mi-Sun,Lee, Beom Hee,Kim, Gu-Hwan,Lee, Jin-Joo,Choi, Seung Hoon,Lee, Joo Yeon,Kim, Jae-Min,Kim, Yoo-Mi,Ko, Tae-Sung,Yoo, Han-Wook Korean Society of Medical Genetics and Genomics 2013 대한의학유전학회지 Vol.10 No.1

Purpose: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of CTG repeats preclude the accurate determination of repeat size. We tried to show the clinical and analytical validity of the application of Southern blotting after long-range PCR was demonstrated in Korean DM1 patients. Materials and Methods: The Southern blotting of long-range PCR was applied to 1,231 cases with clinical suspicion of DM1, between 2000 and 2011. PCR was performed using genomic DNA with forward 5'-CAGTTCACAACCGCTCCGAGC-3' and reverse 5'-CGTGGAGGATGGAACACGGAC-3' primers. Subsequently, the PCR fragments were subjected to gel electrophoresis, capillary transfer to a nylon membrane, hybridization with a labeled (CAG)10 probe. The correlation between clinical manifestations and the CTG repeat expansions were analyzed. Results: Among a total of 1,231 tested cases, 642 individuals were diagnosed with DM1 and the range of the detected expansion was 50 to 2,500 repeats; fourteen cases with mild DM1 ($75{\pm}14$ repeats), 602 cases with classical DM1 ($314{\pm}143$ repeats), and 26 cases with congenital DM1 ($1,219{\pm}402$ repeats). The positive and negative predictive values were 100%. The age at test requested and the CTG repeat numbers were inversely correlated (R=-0.444, P<0.01). Conclusion: This study indicates that Southern blotting after long-range PCR is a reliable diagnostic method DM1.

Improved Quality of Life through an Integrated Health Care Service for Children with Atopic Dermatitis

( Mi Rae Cho ),( Sun Hang Kim ),( Jung Hwa Shim ),( Soo Hyoung Lee ),( Hyun Jung Kim ),( Eun Sil Ko ),( Hyun Jung Lee ),( Chae Bong Kim ),( Ho Jang Kwon ),( Hye Yung Yum ) 한국피부장벽학회 2012 한국피부장벽학회지 Vol.14 No.2

Atopic dermatitis (AD) is a chronic, relapsing inflammatory skin disease characterized by dry skin with severe itching Children with AD and their caregivers report itching, scratching, associated sleep disruption, irritability, anxiety, behavior problems. Moreover, AD places a significant economic burden on the patient, family and society. So, an integrated health care service can be useful to comprehensively evaluate triggers and response to treatment, address confounding factors including psychological problems, and educate patients and family. This study was designed to evaluate the effectiveness of integrated health care service in children with AD according to quality of life and clinical symptoms scores. From July, 2011 to December, 2011 134 children were referred from local health care office to Seoul Medical Center for management of atopic dermatitis. The questionnaire developed by the ``Atopy Free Seoul`` research project in 2008 was used for quality of life (QOL) survey, and SCORing of Atopic Dermatitis (SCORAD) was done at each visit. The study targets were 134 child patients with the average age of 6.11 years who suffer from atopic dermatitis and visit the hospital 2.01 times on average. It was found that the QOL scores of patients participated in our integrated health care service was reduced by 10.43 after treatment compared before intervention (p<0.0001). In 46 children among them, SCORAD also averagely decreased by 5.78 after treatment (p<0.0001). Moreover there is positive correlation between changes in scores of QOL and SCORAD of 46 patients (r=0.46, P<0.001). This results support the need for and feasibility of integrated care for children with AD and their families.

2014 F/W Collection : Cyber Punk

Mi-sun Yum(염미선) 한국디자인학회 2014 한국디자인학회 국제초대전도록 Vol.2014 No.5

Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Mi-Sun Yum,Beom Hee Lee,Gu-Hwan Kim,Jin-Joo Lee,Seung Hoon Choi,Joo Yeon Lee,Jae-Min Kim,Yoo-Mi Kim,Tae-Sung Ko,Han-Wook Yoo 대한의학유전학회 2013 대한의학유전학회지 Vol.10 No.1

Purpose: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3’ UTR of the DMPK gene. Variable expansions of CTG repeats preclude the accurate determination of repeat size. We tried to show the clinical and analytical validity of the application of Southern blotting after long-range PCR was demonstrated in Korean DM1 patients. Materials and Methods: The Southern blotting of long-range PCR was applied to 1,231 cases with clinical suspicion of DM1, between 2000 and 2011. PCR was performed using genomic DNA with forward 5’-CAGTTCACAACCGCTCCGAGC-3’ and reverse 5’-CGTGGAGGATGGAACACGGAC-3’ primers. Subsequently, the PCR fragments were subjected to gel electrophoresis, capillary transfer to a nylon membrane, hybridization with a labeled (CAG)10 probe. The correlation between clinical manifestations and the CTG repeat expansions were analyzed. Results: Among a total of 1,231 tested cases, 642 individuals were diagnosed with DM1 and the range of the detected expansion was 50 to 2,500 repeats; fourteen cases with mild DM1 (75±14 repeats), 602 cases with classical DM1 (314±143 repeats), and 26 cases with congenital DM1 (1,219±402 repeats). The positive and negative predictive values were 100%. The age at test requested and the CTG repeat numbers were inversely correlated (R=-0.444, P<0.01). Conclusion: This study indicates that Southern blotting after long-range PCR is a reliable diagnostic method DM1.

전통 요소를 활용한 텍스타일 디자인 개발 -조선조 말기 영왕가 왕실 복식에 나타난 문양과 색채를 중심으로-

염미선 ( Mi Sun Yum ) 복식문화학회 2013 服飾文化硏究 Vol.21 No.5

The purpose of this study is to identify the figurative characteristics and symbolic meanings of the patterns of royal families in the late Joseon Dynasty based on the theoretical examination as well as the overall characteristics of the colors based on the quantitative analysis of colors. This study focused on the costumes of King Young royal families in the late Joseon Dynasty which is the last costume of Joseon Dynasty and classified 129 relics under preservation for the analysis. This study analyzed the colors using the digital data in the picture brochure as the previous studies did and presented the color palette. Based on this, a variety of textile designs that are developed by using the traditional patterns and colors could be applied to the modern fashion designs. For Patterns used in costumes of King Young royal families, the five pattern categories include animals, plants, letters, and geometric patterns and the final category of other types. The features of color in the costume were v tone of Y color and lt and p tones of Y color. The implication of this study is to develop textile designs which reflects conversion of past and modern cultures and cultural identity by applying the traditional cultural elements through literature review and empirical study and theses developed 8 textile designs could be applied to the various modesrn fashion designs.

조선시대 신발의 조형적 가치와 색채 특성

염미선(Yum mi sun),김영인(Kim young in) 한국색채학회 2005 한국색채학회 학술대회 Vol.2005 No.-

뇌전증 연축의 병인론 및 치료

염미선(Mi-Sun Yum) 대한소아신경학회 2017 대한소아신경학회지 Vol.25 No.3

After the first description of infantile spasms (IS) in 1841, extensive clinical and laboratory investigations have been done to find the pathophysiology and the optimal treatments. The concept of the “infantile spasms” has been evolved to the “epileptic spasms”, which includes the spasms outside the infancy the pathophysiology of IS, however, is still unknown. There have been a few randomized trials that proved the efficacy of the anecdotally used drugs in IS including hormonal therapy and vigabatrin. Due to its relative low incidence (1/2000) and the variable etiologies, clinical studies have difficulties in making a clear conclusion. Thus, animal models were eagerly sought to find the pathophysiology based treatments with definite efficacy and several models are now available. In this paper, the current understandings of the epileptic spasms as well as the translational researches using the animal models of IS are reviewed. The latest evidences of therapeutics in IS are discussed shortly.

심한 표피 박탈성 홍반과 만성 설사로 치료받던 환아에서 진단한 Omenn 증후군 1례

염미선 ( Mi Sun Yum ),이소연 ( So Yeon Lee ),김효빈 ( Hyo Bin Kim ),유한욱 ( Han Wook Yoo ),김태형 ( Thad Ghim ),홍수종 ( Soo Jong Hong ) 대한소아알레르기호흡기학회 2005 소아알레르기 및 호흡기학회지 Vol.15 No.2

조선시대 신발의 조형요소에 따른 색채와 배색 특성

염미선(Mi Sun YUM),김영인(Young In KIM) 한국색채학회 2012 한국색채학회 논문집 Vol.26 No.4

신발의 특성은 민족이나 인류 전체의 문화에 대한 식별소로서 작용하는 경우가 많다. 이 연구에서는 우리나라 전통 신발의 형태와 재료, 문양에 따른 색채 특성을 규명하여 전통 신발의 조형적 가치를 현대 디자인에 적용하기 위한 자료를 제안하는데 목적이 있다. 연구의 범위는 신발 관련 문헌과 유물이 가장 많이 남아 있는 조선시대로 제한하였다. 문헌을 통해 신발에 대한 이론적 배경을 고찰하고, 대학 박물관과 지방, 시 박물관에서 보전 중인 유물의 실물사진 자료를 토대로 신발의 형태, 문양, 재료에 따른 색채 특성을 규명하였다. 선정된 유물은 총 172점이며, 각각의 유물에 사용된 색채 팔레트를 측정하여 최종 조사대상의 674개의 색을 분석하였다. 이 연구의 색채분석결과는 다음과 같다. 혜(鞋)의 경우는 YR>R>Y의 색상 순으로 빈도가 높았으며, deep, pale, soft, dark의 색조 분포를 보였고, 화(靴)의 경우 Y>R>PB의 순으로 빈도가 높았고, pale, vivid, dark의 색조 분포를 보였다. 문양에 따른 색채는 대부분 유채색이 높은 분포를 보였으며, YR이 가장 높은 분포를 보였다. 부가적으로 조선시대 신발은 착용자의 신분과 성별에 따른 차이가 있으므로 이를 고려해 색채를 분석한 결과, 양반의 신발은 서민의 신발보다 다양한 색상, 색조 분포가 나타났으며, 남성과 여성을 비교해 보면 색상의 차이는 없었으나 남성의 신발에 더 어두운 색조가 사용된 경향을 보였다. 이를 토대로 조선시대 신발의 조형요소에 따른 대표색 팔레트를 제안하였다. 신발의 배색 특성 결과는 신발의 바탕색인 주조색과 문양에 나타난 강조색에서 보색배색과 명도차가 큰 무채색배색이 가장 많이 보이며, 유사색상배색, 근접보색배색과 명도차가 큰 동일색상배색이 사용되었다. 이 연구에서 도출한 우리나라 전통 신발의 조형적 가치와 색채 특성을 현대 디자인에 적용하고 과학적 기술에 의한 기능적인 면을 도입한다면 전통을 현대의 새로운 디자인으로 재창조하는 제안이 이루어 질 수 있을 것이다. Shoes characteristics could be one of the keys to understanding the different cultures of the people. The purpose of this study is to investigate color characteristics of the Korean traditional shoes according to its form, material, and pattern and to suggest references to apply formative elements of the traditional shoes to modern design. The shoes were selected from the Chosun Dynasty as this time period provides the most abundant literature and remains. The literature review covered theoretical backgrounds of the shoes. We investigated the colors of the remains classified and analyzed by division of forms, patterns, and materials based on the photographs of the actual remains protected by universities and local museums. Total 172 remains were analyzed to create color palettes and 674 different colors were extracted and examined. The result of the color analysis is as follows: in the case of Hye, color order appeared as YR>R>Y, and the tones were deep, pale, soft, and dark. Hwa’s color order showed Y>R>PB and the tones were pale, vivid, and dark. The patterns showed the tendency of chromatic color use and a high frequency in use of YR color. According to social status and gender difference of wearer, the upper class had more variety of colors and tone and between the genders there was little difference in colors but the men’s shoes showed darker tones. Based on this analysis, we suggested a representative color from the Korean shoes color palette. The characteristics of the color arrangement seem to be that complementary and achromatic colors with high brightness contrast were mostly used in the dominant and accent colors of the shoes. Similar color, split complementary color, and the same color arrangments with high brightness were also used. If we apply the formative elements and color characteristics of the Korean traditional shoes to modern design as well as adding functional aspects created by new technologies, then traditions could be an inspiration for a new modern design.