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      • KCI등재후보

        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.

      • KCI등재

        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.

      • KCI등재후보

        레녹스-가스토 또는 유사증후군 환자에서 복합 치료의 적용 효과

        염미선(Mi Sun Yum),홍석호(Seok Ho Hong),이정교(Jung Kyo Lee),유수정(Su Jeong You),김덕수(Deok Soo Kim),고태성(Tae Sung Ko) 대한소아신경학회 2007 대한소아신경학회지 Vol.15 No.2

        목 적: 레녹스-가스토 증후군(LGS)은 다양한 형태의 경련, 뇌발달 지연, 뇌파상 느린 극서파복합을 특징으로 하는 소아기의 간질성 뇌병증으로 잘 알려져 있다. 저자들은 이러한 난치성 간질의 환자군에서 새로운 항경련제들을 포함하여, 케톤생성 식이요법, 간질 수술, 미주신경자극술 등의 여러 가지 복합 치료를 적용하여 그 효과를 알아보고자 하였다. 방 법: 1993년부터 2006년까지 서울아산병원에서 레녹스-가스토 증후군으로 진단받은 60명의 환자와 뇌파상 느린 극서파 복합 또는 광범위 돌발성 속파가 없이 다발성 극파만을 보인 19명의 레녹스 유사 증후군 환자들의 의무기록을 분석하였다. 보호자에 의한 경련일지 기록을 통하여 치료 전후의 경련 횟수를 비교함으로써 각각의 환자에서 추가되는 치료의 효과를 평가하였다. 결 과: 총 79명의 환자 중 51명이 남자였고 경련이 시작된 평균 연령은 1.9세였다. 모든 환자에서 약물 치료를 선행하였고 약물에 반응이 없는 환자들에 대해 23명에서 케톤생성 식이요법을, 28명에서 뇌량절제술을, 7명에서 미주신경자극술을 시행하였으며 2명은 뇌피질 부분절제술, 1명은 뇌반구절제술을 받았다. 이 중 23명(29.1%)이 1년 이상 경련 소실을 경험하였으며 67명(84.3%)에서 50%이상의 경련 감소가 있었다. 항경련제만으로 10명, 케톤생성 식이요법으로 3명, 뇌량절제술로 7명, 뇌반구절제술로 1명, 뇌피질 부분절제술로 2명이 각각 경련이 소실되었고, 약물 치료만으로 31명(39.2%)이, 케톤생성 식이요법으로 13명(56.5%), 뇌량절제술로 18명(64.3%), 미주신경자극술로 2명(28.6%)이 50% 이상의 경련 감소를 보였다. 결 론 : 레녹스-가스토 증후군은 항경련제에 잘 듣지 않는 난치성 간질로 잘 알려져 있으나 최근 다수의 새로운 항경련제의 개발과 적용, 간질 수술 및 식이 요법 등의 적용으로 비교적 좋은 치료 성적을 얻을 수 있었다. 향후 이러한 난치성 간질의 치료에 있어 환자 맞춤형 진보적 복합 치료가 적극적으로 고려되어야 하겠다. Purpose : Lennox-Gastaut syndrome(LGS) is a childhood epileptic encephalopathy characterized by an electroclinical triad of generalized slow spike and wave activities in the EEG, multiple types of epileptic seizures, and slow mental development. We have attempted to evaluate the efficacy of diverse treatment modalities including epilepsy surgery, ketogenic diet and vagus nerve stimulation as well as new antiepileptic drugs(AEDs) in patients with LGS. Methods : We retrospectively reviewed the medical records of 79 patients who were managed as Lennox-Gastaut syndrome at Asan Medical Center from April 1993 to March 2006. Their clinical characteristics, EEG, brain MRI findings, and applied treatment modalities were analyzed. Pre- and post-treatment seizure counts were obtained from monthly diary annotations by their families or caregivers. Results : Among these 79 patients, 51 were males. The mean age of their first seizure was 1.9 years and the mean age of their first clinic visit was 4.6 years. Seizure freedom longer than one year was noted in 23 of the 79 patients(29.1%; AED in only 10 of 78 patients, three of 22 patients on a ketogenic diet, seven of 28 patients callosotomy, one patient hemispherectomy, and 2 patients cortical lesionectomy). Measurable improvement(>50%) was noted in 67 of the 79 patients(84.8%) by multimodal treatments. Conclusion : Lennox-Gastaut syndrome is recognized as intractable epilepsy. However, patient-designed multi-modality treatment can usually be very helpful for most of these patients.

      • KCI등재

        흑인 문화의 특수성을 내재한 미국의 캐주얼 패션디자인 특성

        염미선(Mi Sun Yum),김영인(Young In Kim) 한국복식학회 2013 服飾 Vol.63 No.6

        This study aims to identify the elements of black culture and use it to analyze the formative characteristics of casual fashion items as well as the symbolic meanings presented in the graphic designs of the items. First of all, in order to distinguish the identity of black culture, this study made a division into racial, social, and artistic aspects based on cultural specificities of Stuart Hall, a culture theorist. This was for a theoretical review and based on this review, a theoretical framework was developed to analyze the characteristics of American casual fashion design of black people. The case study selected 1719 fashion images of 137 male brands and 33 female brands from websites of companies manufacturing casual wear of black people in America. The following is a summary of the study results. The conceptual characteristics based on specificities of black culture can be categorized into ten attributes: playfulness in order to digest human grief and emotion positively, satire of the mainstream society, spontaneity through emotional expression from the heart, abstractness of various emotions elating suffering, humor trying to express negative aspects as the meaning of light and innocent laughter, dependence with passive attitudes toward discrimination and master-slave relationships in history, resistance against discrimination and disadvantages, African orientation and primitiveness pursuing natural conditions, aggressiveness against violence and unfair treatment, and confidence and defiance against social deprivation and corruption. Based on the results of an analysis through formative classification system founded on racial, social, and artistic aspects of black people, specificities of black culture are of formative characteristics of their casual fashion design. These elements are presented on graphic t-shirts through strong colors, loose silhouette, and details with many pockets. These characteristics were reflected in symbolic meanings presented in the graphic.

      • KCI등재

        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.

      • KCI등재

        클로드 모네의 회화를 활용한 에코백 디자인 개발

        염미선(Yum Mi-Sun) 한복문화학회 2021 韓服文化 Vol.24 No.3

        The continuous development of various digital technologies due to the 4th industrial revolution has influenced the fashion industry. Digital fashion, which relies on AI technology, presents a new paradigm of various environments surrounding humans. However, despite introducing AI technology, designers must express artistic sensibility and create future values. In the design process of fashion and art, it is imperative to develop a creative design for designers that cannot be replaced by AI and to seek new ways as a social and ethical fashion. Just as world-famous designers created costumes inspired by the work of Mondrian and Salvador Dali, many world-class fashion designers have continued to combine art and fashion for original and commercial designs. These days, many companies are constantly striving to create a brand value through collaborations with artists. This study aimed to develop an eco-friendly bag by analyzing the characteristics of painting works in the art field. In this study, Monet"s work was analyzed and developed as an eco-friendly bag design by making it into a digital graphic pattern. As a method of this study, the works of the impressionist artist Claude Monet, a painter of movement of light and color, were studied theoretically through literature study, and 257 Monet works were collected, and formative characteristics were analyzed. Based on this, digital graphic development through the reconstruction of the motif and development of it as an eco-bag design was carried out. The results of the study were as follows. Monet"s paintings were characterized by not clear images and instantaneous expression of objects that changed according to the light in a form without scattered contour lines rather than precise forms or realistic expressions. Nature was expressed through the harmony of light and color, and the object"s shape was expressed through color division and visual mixing. The color characteristics of Monet"s works showed various color distributions of PB, YR, Y, GY, R, B, and the color distribution of ltg, g, d, p, and sf was shown. In the most frequently seen PB color, many shades of g, ltg, and p were seen, and in the YR color, the color characteristics of p, g, lt, and ltg were seen. Eight textile designs with complex digital graphic effects were developed and proposed for eco-friendly bags.

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