The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions

염미선,고태성,유한욱 대한의학회 2010 Journal of Korean medical science Vol.25 No.2

Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.

학교집단소변검사에서 발견된 단독 현미경적 혈뇨의 추적 관찰

염미선,윤회수,이주훈,한혜원,박영서 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.1

목 적 : 1990년대 초반부터 시행된 학교집단소변검사에서는 단독혈뇨가 가장 많이 발견되고 있으나, 이러한 환아들의 장기적 예후나 추가적검사의 필요성에 대해서는 아직 논란이 있다. 이에 저자들은 이들 환아의 추적 관찰결과를 통해 예후와 필요한 추적검사의 정도를 알아보고자 하였다.방 법 : 1990년 8월부터 2004년 2월까지 학교신체검사에서 무증상적 혈뇨가 발견되어 서울아산병원 소아과에 의뢰된 환아 중 단백뇨(>250 mg/일)나 다른 신염의 증거, 선천성신기형, 신기능의 저하(크레아티닌청소율 <85 mL/분/1.73m2)가 없는 단독 혈뇨 환아들을 대상으로 경과를 관찰하였다. 추적 관찰은 6개월마다 요검사와 혈청 크레아티닌, 단백, 알부민을 측정하였고 요검사 상 단백뇨가 나온 환아에서 24시간 요단백을 측정하여 500 mg/일 이상인 경우 신생검을 시행하였다.결 과 : 총 331명의 경과를 관찰하였으며 남자는 157명, 여자는 174명이었다. 평균 나이는 9.9±2.3세(7-15세)였고, 평균 추적 관찰기간은 2.2±1.6년(1-10년)이었다. 경과관찰 중 혈뇨가 소실된 환아는 75명(22.7%)으로 평균 소실 기간은 2.6±1.7년(1-8년)이었으며, 나머지 256명(77.3%)에서는 혈뇨가 지속되었고 그 중 8명(2.4%)에서 유의한 단백뇨 증가를 보였다. 이들 8명 중 4명은 경과관찰 중 단백뇨가 다시 감소하여 추가적인 검사 없이 경과관찰 중이며, 나머지 4명에서는 단백뇨가 지속되어 신생검을 시행하였다. 이중 2명에서는 특이 소견이 발견되지 않았고, 나머지 2명은 경도의 IgA신병증으로 진단되었다. 경과관찰 중 신기능 저하나 고혈압을 보인 환아는 없었다. Purpose : The isolated microscopic hematuria is the most common abnormality detected by school urinary screening, but there is no consensus about the range of investigations and long-term outcomes of isolated hematuria in children yet. This study aims to elucidate the prognosis of hematuria and the range of diagnostic studies by follow-up results. Methods : Students with isolated hematuria who were referred to the Department of Pediatrics, Asan Medical Center from Aug. 1990 to Feb. 2004 were analysed retrospectively. Cases that presented Through significant proteinuria(>250 mg/day), other symptoms of nephritis or renal dysfunction (creatinine clearance <85 mL/min/1.73m2) were excluded. Follow-up was done every six months with checking urinalysis, serum creatinine, protein and albumin. When albuminuria was detected, 24 hour urine protein was checked. Renal biopsy was done when urine protein was over 500 mg/day. Results : A total of 331 students were enrolled in this study. There were 157 males and 174 females. The mean age at presentation was 9.9±2.3 years(7-15 years) and mean follow-up period was 2.2±1.6 years(1-10 years). Seventy five(22.7 percent) patients showed the resolution of microscopic hematuria. The mean resolution period was 2.6±1.7 years(1-8 years). Eight(2.4 percent) patients developed significant proteinuria and renal biopsy was done in four of them. Two cases of mild IgA nephropathy and two of minimal change were detected. None of them developed hypertension. At the end of the follow-up, renal function had remained stable in all subsets of patients. Conclusion : The prognosis of isolated microscopic hematuria was good. This study suggests that invasive studies including renal biopsy are not necessary and a regular follow-up of urinalysis is enough for children with isolated microscopic hematuria.

심한 표피 박탈성 홍반과 만성 설사로 치료받던환아에서 진단한 Omenn 증후군 1례

염미선,이소연,김효빈,유한욱,김태형,홍수종 대한 소아알레르기 호흡기학회 2005 Allergy Asthma & Respiratory Disease Vol.15 No.2

Omenn syndrome(OS) is a peculiar, autosomal recessive severe combined immunodeficiency(SCID) associated with early-onset, generalized, exudative erythrodermia, lymphadenopathy, hepatosplenomegaly, hypereosinophilia, elevated serum IgE, and normal to highly activated, yet non-functional oligoclonal T cells. Recently, abnormalities in both alleles of either recombinant activating genes(RAG) 1 or RAG2 genes are found in all OS patients. Therapeutic option is stem cell transplantation, however, the mortality is still 40-50 percent. We experienced a case of OS with severe exudative erythrodermia, chronic diarrhea and recurrent septicemia in a 4 months old boy. He showed RAG1 mutation and was treated with stem cell transplantation but died. We report a case of OS with RAG1 mutation. 저자들은 심한 표피 박탈성 홍반과 만성 설사 및 반복된 감염증으로 치료를 받았으나 증상이 호전되지 않았던 환아에서 RAG1 유전자의 H249R, C176Y, R776Q 변이가 증명된 중증 복합성 면역결핍증의 하나인 Omenn 증후군을 진단하여 이를 보고하고자 한다.

쟝 미셀 바스키아(Jean-Micheal Basquiat)의 회화를 활용한 티셔츠디자인 개발

염미선 한국니트디자인학회 2017 패션과 니트 Vol.15 No.3

Fashion interacts mutually not only with diverse aspects of culture but with all aspects of society, and it is creating new emotions through the collaboration with art. Furthermore, in order to make a creative design, diverse inspiration is received from the formative beauty of a work of art. In this aspect, this research attempts to develop a new sense of T-shirt and to this end, analyzes the formative elements of color and form, which are expressed in New York graffiti artist Jean Michel Basquiat’s paintings. This is used to develop a new pattern and its purpose is to develop a jersey T-shirt design. This research contemplates, based on theoretical background, the historical background and characteristic of Jean Michel Basquiat’s painting and analyzes the symbolic and thematic significance of his work. Through the analysis of formative motive and color characteristic that can be seen in the paintings, a pattern seeks to be developed to apply it as a jersey T-shirt design. The results of the research are as follows. His work possesses the perspective that he sees the world and black people’s diverse meanings such as heroic symbol, racism, humor, pleasure, death and immortality. The color characteristics used in the work were R, YR, PB, Y in its abundance and in R, the order was 7.5R>5R>10R>2.5R. The color tone was the order of b>p>v>s>d and had the characteristic of being bright and clear as well as having a distribution of dark tone. Through this research, the data could be used to start the expansion of fashion being inspired by other artistic areas. From now, such persistent research will tear down the boundaries with other artistic areas and genres. In addition, it may become the sources of diverse artistic works inspiring modern fashion design.

현대 니트웨어에 나타난 스트라이프 패턴의 조형적 특성

염미선,신하람 한국니트디자인학회 2018 패션과 니트 Vol.16 No.3

In this research, we begin by performing a theoretical investigation of definitions, properties and the types of knit and stripe patterns. Based on that investigation, we collect stripe pattern images observed in the 4 major collections held in 2013s/s ~ 2018s/s. The main goal is to analyze the form, arrangement, and the color nature of the stripe patterns that appeared in contemporary knitwear by using the collected images. Total 328 images of stripe patterns appearing in the contemporary knitwear were analyzed and the images of the stripe patterns were collected based on more than 2 lines on which the form, interval, and colors of the stripes were arranged differently. The result of study is as follows. The stripe is a pattern that the form of line is seen on the fabrics, it is divided into the vertical line, horizontal line, and diagonal line by the regular repetition and variation of the lines and colors. As a result of analyzing the formative characteristics of the stripe patterns appearing in the contemporary knitwear, the horizontal stripe, irregular strip, and multi stripe pattern is the most frequent cases when they were classified into shape, array spacing, and color characteristics. Stripe patterns has been developed every season in the contemporary knitwear. This research provides the theoretical data for developing more systematic and various stripe patterns, and it is utilized as the theoretical data of various knitwear design development.

플라워디자인 기반의 공간연출 연구 동향 분석

염미선,정강화 한국화예디자인학회 2023 한국화예디자인학 연구 Vol.49 No.-

The current floral industry is experiencing a growing demand for flower design space styling that emphasizes a pursuit of leisure, comfort, and harmony with nature, while also delivering strong psychological messages. As a result, flower design space styling that incorporates diverse sensory stimuli is expected to become increasingly important in the future. Given the wide-ranging applications of flower design space styling, research in this area is being conducted from various perspectives and across multiple fields. In this study, we aim to illuminate the research trends in space styling centered around flower design. A total of 164 domestic research papers were analyzed, including master’s and doctoral theses, papers published in Korea Research Foundation-listed and candidate journals, conference papers, and other research papers from university-affiliated research institutes, all of which were retrieved from the Korean Education and Research Information Service (http://www.riss.co.kr) using keywords such as ‘flower design,’ ‘floral design,’ ‘flower space,’ and ‘floral space’ from 1998 to 2022. Chapter 2 provides a conceptual overview of flower design and space styling, which serves as the basis for defining the criteria for classifying and organizing the research data in Chapter 3. Subsequently, in Chapter 4, we investigate and analyze the research trends in domestic space styling design based on factors such as the year of publication, field of specialization, research methods, and types of spaces studied. Finally, in Chapter 5, we present the characteristics revealed in these research trends and draw conclusions based on the comprehensive analysis. The research trends showed fluctuations in the number of studies over the years, with a significant decline observed from 2020 onwards. This decline is likely attributed to the COVID-19 pandemic, which prompted a shift to online platforms, increased hygiene and health awareness, and economic challenges that may have impacted research activities. Furthermore, while flower design was the most studied field, it is notable that research in diverse design disciplines, as well as the integration of business, humanities, technology, and service-related fields through interdisciplinary studies, accounted for 36.65% of the research. This suggests that integrated research methods, offering practical value, depth, and richness in research, are attempting to expand the scope of interdisciplinary design studies for future societies. Based on the analysis of space-specific research trends, studies were conducted primarily on art exhibition spaces, commercial spaces, symbolic spaces, residential spaces, urban spaces, religious spaces, and office spaces. Through this study, it is predicted that space styling using flower design will continue to evolve into a more abundant and creative design practice, with an emphasis on interdisciplinary research, integrated research methodologies, considerations for health and safety, environmental concerns, and the provision of practical value. It is hoped that future research will delve deeper and provide more concrete insights, further expanding the value proposition of interdisciplinary design. 현재의 화훼산업은 삶의 여유와 편안함, 자연과의 공생을 추구하는 추세와 함께, 심리적으로 강한 메시지를 전달할 수 있는 플라워디자인 공간연출에 대한 수요와 역할이 증가하고 있다. 이는 앞으로 더욱 다양한 감각적 자극을 동시에 활용하는 플라워디자인 공간연출이 더욱 중요해질 것으로 예상된다. 플라워디자인 공간연출이 광범위한분야에서 다양하게 이용되고 있는 만큼 연구 또한 다양한 분야에서 다각도로 이루어지고 있다. 따라서 본 연구는플라워디자인 중심의 공간연출 연구동향을 조명하는데 그 목적이 있다. 한국교육학술정보원(http://www.riss.co.kr)에서 ‘플라워디자인’, ‘화훼디자인’, ‘화예디자인’, ‘꽃 공간’ 등의 키워드로 논문을 검색하여 1998년부터 2022년까지 발표된 국내의 석⋅박사학위논문과 한국연구재단 등재 및 등재후보, 학회지 논문, 그리고 기타 대학 부설연구소에서 발표한 논문을 대상으로 총 164편을 분석하였다. 2장에서는 플라워디자인과 공간연출에 대한 개념을 정리하였다. 이를 바탕으로 3장에서는 연구의 분류의 기준을 세우고 이에 따라 자료를 정리하였다. 그리고 4장에서는 국내 공간연출디자인의 연구동향을 연도별, 전공분야별, 연구방법별, 공간별로조사 및 분석하였다. 이러한 분석 결과를 종합하여 5장에서는 연구 동향에 나타난 특성을 제시하여 결론을 도출하였다. 연도별 연구의 증가와 감소의 변화가 있었으며, 2020년부터 급격하게 줄어들었는데 여기에는 코로나19 팬데믹으로 인한 온라인 전환과 위생 및 건강 인식 증가, 경제적 문제 등 연구에 영향을 미쳤을 것으로 추정된다. 또한, 전공 분야별 연구 동향을 파악한 결과 플라워디자인 전공 분야의 연구가 가장 많았으나, 다양한 디자인 분야 및 조형미술, 나아가 경영, 인문, 기술, 서비스 분야에서 융복합연구로 36.65% 확장되고 있음을 확인하였다. 이는 연구방법중 복합연구가 주를 이루는 것과 융⋅복합 전공분야의 결과와 연결이 되며 다양한 연구 방법의 통합, 실용적 가치제공, 연구의 깊이와 풍부함, 등 미래사회를 위한 융 복합적 디자인 학문의 확장을 시도하고 제시하고 있다고 볼수 있다. 공간별 조사로는 예술 작품 전시 공간, 상업 공간, 상징 의미 공간, 주거 공간, 도시 공간, 종교 공간, 사무공간 순으로 연구가 진행되고 있었다. 본 연구를 통해 플라워디자인을 활용한 공간연출은 융⋅복합적 디자인 연구와 다양한 연구방법의 통합, 건강과안전, 환경 등을 고려한 디자인, 실용적 가치 제공 등을 통해 더욱 풍부하고 창의적인 디자인이 이루어질 것으로예측된다. 향후 심도 깊고 구체적인 연구가 이어지길 기대하며, 융⋅복합적 디자인으로서 가치를 규명하는 방향으로 확대될 수 있기를 바란다.

그래피티 아트의 조형성을 활용한 패션디자인 연구

염미선 한국니트디자인학회 2018 패션과 니트 Vol.16 No.2

The purpose of this research is to develop the graffiti art as the street fashion design by analyzing its figurative feature. The content and the scope of this research is to figuratively analyze a total of 443 graffiti art pieces by theoretically exploring the concept, occurrence, and figures of graffiti art. In regards to the scope of the research, it collected and categorized graffiti-like images mainly in New York. Then, after distributing them and making color plates, 5080 colors were extracted. After turning extracted colors into H V/C values, we analyzed based on the Munsell color system. Based on the analyzed, it aims to develop them as various street fashion items. Results of this research are as follows. Graffiti art started from New York and slowly spread to countries in Europe. Most of them are playful by using cartoon-like methods that transfer meanings with letters and convey symbolic and satirical features that represent the anti-social hostility. Moreover, it tends to have autonomy which expresses the internal world of oneself. Strong colors accounted the most for the overall colors, and the dull and soft color was frequently used. 82.3% of them had the chromatic color while 17.7% of them had achromatic color. For chromatic color, it was in the order of R>PB>YR>B>Y. The color R which appeared the most tended to have deep color, and the color PB tended to be strong. Based on this, 32 street fashion items were used as designs by developing textile patterns as we use motif and color of graffiti art. This research provides the basic source to develop various products based on broad image configuration by developing unique pattern designs, not restricting the fashion for simple expression.

Topiramate can reduce the number of episodic attacks incyclic vomiting syndrome : a case report

염미선,배근욱,유수영,고태성 대한소아청소년과학회 2007 Clinical and Experimental Pediatrics (CEP) Vol.50 No.4

Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at a time. At the time of admission, no abnormal physical or neurological findings were observed and laboratory findings, including brain MRI and endoscopic examination, revealed nothing specific. The vomiting episodes were self-limited but recurrent and severely interrupted his daily life. When this patient was treated with topiramate, he showed a marked increase of symptom-free periods. 주기성 구토증(cyclic vomiting syndrome, CVS)은 예측 불가능한 심한 구토가 특별한 원인 없이 시작되어 각 개인마다 일정한 임상 양상을 보이며 수 시간에서 수일간 지속되다가 저절로 호전되는 것을 반복하는 질환으로서, 그 임상 양상은 편두통과 많은 공통점을 보이며 그 병리생리학적 원인이 편두통과 유사한 것으로 추정되어지고 있다. 저자들은 만 3세 경 부터 시작된 발작적이고 반복적인 주기적 구토를 주소로 내원한 5세 남아에서 주기적 구토증을 진단하였으며, 이 환아에서 대규모의 임상 연구를 통해 단독 요법으로 편두통의 예방에 효능이 있음이 인정된 광범위 항경련제인 topiramate(TPM)를 투여하여 그 증상이 호전됨을 경험하고 이를 보고하는 바이다.

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.

연구논문 : 동물에 나타난 스트라이프의 조형적 특성을 이용한 패션디자인 연구

염미선 ( Mi Sun Yum ) 한국의류산업학회 2015 한국의류산업학회지 Vol.17 No.2

The purpose of this study is to analyze the formative characteristics of animal stripes based on the colors, shapes and texture through classification standards under functional meanings, and it also aims to produce various stripe patterns based on its outcome to develop modern fashion design. For the study method, specialty publications, preceding researches and internet websites were utilized for the purpose of theoretical discussion on animal stripes. And it is also to examine functional meanings formed by animal stripes in order to analyze the characteristics of stripes; subsequently, based on the classification standard of this function, it is to identify the distinction of its colors through quantitative analysis on formative characteristics and colors. By using the following analyzed color palette of stripes, various stripe patterns were developed and designed with the sense of modern fashion while repeatedly using the shape with systematic colors and rhythms displayed on the animals. As a result of this study, it was confirmed that animal stripes possess a regularity that is systematic and can be digitized. After identifying, analyzing and systemizing formative characteristics of animal stripes, a concept of division and competition was applied; subsequently, whole new stripe patterns were developed and designed in order to further promote fashion design.