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.

Analysis of N- and O-linked glycans of hepatitis B virus-like particle vaccine expressed from CHO cells

Yun Mi Lee,Jeong-Nam Park,Jung Sun Yum,Hyun-Ah Kang,Doo-Byoung Oh,Ohsuk Kwon 한국당과학회 2009 한국당과학회 학술대회 Vol.2009 No.1

Envelope antigen gene of Hepatitis B virus (HBV) consists of successive preS1, preS2, and S regions. Depending on alternative translation starting from each initiation codon of the corresponding regions, three envelop proteins, termed large (L), middle (M) and small (S) proteins, are synthesized. Dobeel Corp. developed improved HBV vaccine as the form of virus-like particle (VLP) comprising all three types of envelope proteins which were expressed from Chinese hamster ovary (CHO) cell. N-glycan profiles of total VLP as well as each L, M, and S protein were analyzed by using normal phase high performance liquid chromatography (NP-HPLC) after labeling of fluorescnece tag and matrix assisted laser desorption/ionization time-of-flight (MALDI-TOF) spectrometry. Sialylated bi-antennary glycans with core fucose (NeuAc1-2 Gal2Man3GlcNAc4Fuc1) were detected as major peaks while bi-antennary neutral glycans terminated with galatose and sialylated tri- and tetra-antennary glycans were also detected in significant amounts. Especially, higher amount of bi-antennary glycan structures were observed in S and M protein whereas the quantities of tri- and tetra-antennary structures were more abundant in L protein. O-glycan, predicted at preS2 region, was also analyzed after the release from unfolded VLP by hydrazinolysis method. Its glycan profile showed that mucin-type sialylated core 1 glycans (NeuAc1-2GalGalNAc) exist in major populations.

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.

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.

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.

B16-F10 Murine Melanoma 세포의 암전이 억제에 미치는 Diallyl Disulfide의 효과

강미경(Mi-Kyung Kang),전혜승(Hye-Seung Jun),염영나(Yung-Na Yum),황명실(Myung-Sil Hwang),박미선(Mi-Sun Park),김옥희(Ok-Hee Kim) 한국독성학회 2006 Toxicological Research Vol.22 No.4

Diallyl disulfide (DADS), an oil-soluble organosulfur compound in garlic has been reported to suppress tumor growth and to induce apoptosis in cancer. In the present study, we investigated the effects of DADS on pulmonary metastasis of B16-F10 murine melanoma cells. DADS (i.p. 40 ㎎/㎏) significantly (p < 0.05) reduced the number of pulmonary metastatic nodules (48%) in experimental pulmonary metastasis assay. We also found that DADS inhibited adhesion, invasion and migration of B16-F10 melanoma cells in a dose-dependent manner. To study the antimetastatic potential of DADS, we performed the effects of DADS on matrix metalloproteinase activity. DADS significantly inhibited the expression of matrix metalloproteinase-2 activity in B16-F10 cells by gelatin zymography. These results suggest that DADS prevent metastasis in part through suppression of migration of B16-F10 melanoma cells by inhibiting matrix metalloproteinase-2 responsible for degradation of extracellular matrix.