한국인 스미스-렘리-오피츠 증후군 환자의 임상 양상 및 유전자형: 새로운 증례 보고 및 문헌 고찰

고정민,Ko, Jung Min 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.1

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략

고정민,이경아,Ko, Jung Min,Lee, Kyung-A 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.2

IVA는 상염색체 열성의 유전방식을 보이는 leucine 대사 장애 질환이자 대표적인 유기산 혈증이다. IVD 유전자의 돌연변이에 의한 isovaleryl-CoA dehydrogenase 효소의 결핍이 질환 발생의 원인이다. Isovaleryl-CoA dehydrogenase 효소가 결핍되면 isovaleryl-CoA의 대사물질이 비정상적으로 체내에 축적되어 대사성 산증 및 고암모니아혈증 등의 급성 대사성 위기와 발달지연, 성장지연, 및 경련성질환 등의 만성 합병증을 초래할 수 있기 때문에, 급성 대사성 위기 및 만성합병증의 발생을 예방하기 위해 조기 진단에 따른 적절한 치료의 도입이 중요하다. 현재 IVA은 국내에서 시행되는 탠덤 매스 스크리닝법을 이용한 신생아 대사질환 선별검사 항목에 포함되어 있으며, C5의 상승으로 의심할 수 있다. 그러나 SBCAD 결핍증 혹은 pivalic acid 유래물이 포함된 항생제를 투여한 경우에도 C5의 상승이 동반될 수 있기 때문에, 감별진단 및 확진을 위한 추가적인 생화학적, 유전학적 검사가 필수적이다. Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

한국인 제3형 당원병 환자의 임상상 및 AGL 유전자형

고정민,이정현,김구환,유한욱,Ko, Jung Min,Lee, Jung Hyun,Kim, Gu-Hwan,Yoo, Han-Wook 대한유전성대사질환학회 2006 대한유전성대사질환학회지 Vol.6 No.1

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

단일 기관에서 경험한 비후성 심근병증으로 발현된 영아형 폼페병

고정민,이영아,김기범,박성섭,송정한,Ko, Jung Min,Lee, Young Ah,Kim, Gi Beom,Park, Sung Sup,Song, Jung-Han 대한유전성대사질환학회 2012 대한유전성대사질환학회지 Vol.12 No.1

폼페병은 GAA 유전자의 돌연변이로 인해 acid ${\alpha}$-glucosidase (GAA) 효소가 완전 혹은 부분적으로 결핍되어 발생하는 드문 리소좀 축적질환의 하나이다. 전형적인 영아형 폼페병은 다기관을 침범하여 빠르게 진행하는 질환으로, 근긴장도 저하, 전신적인 근력 감퇴 및 비후성 심근병증이 주된 임상 양상이며 치료를 받지 않으면 보통 1-2세경에 사망에 이르게 된다. 재조합 GAA 효소 대체 요법은 이러한 영아형 폼페병 환자에서 병의 진행 경과를 늦추고 예후를 호전시키는데 효과적임이 이미 확인되었다. 본 연구에서는 단일 기관에서 경험한 비후성 심근병증으로 발현된 혈연 관계가 없는 세 명의 한국인 폼페병 환자의 임상 양상 및 유전학적 양상과 더불어 단기간의 효소 대체 요법 효과를 보고하고자 한다. 효소 대체 요법이 도입된 이래 영아형 폼페병의 자연 경과가 매우 호전된 바, 보다 조기에 진단하여 효소 대체 요법을 시작하는 것이 환자의 예후를 호전시키고 합병증을 최소화하는데 결정적일 것으로 생각된다. Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid ${\alpha}$-glucosidase (GAA) enzyme due to the GAA gene mutations. The classic infantile form of Pompe disease is a rapidly progressive multi-organ disease with hypotonia, generalized muscle weakness, and hypertrophic cardiomyopathy, usually leading to death in the first 2 years of life. Enzyme replacement therapy with recombinant human GAA has been shown to be effective and subsequently yielded promising results. Here, we present clinical and genetic characteristics of three Korean non-classic infantile Pompe patients, and the short term efficacy of enzyme replacement therapy. Considering that enzyme replacement therapy can change the natural course of infantile Pompe disease, early diagnosis and early initiation of treatment is critical to improving patient outcomes.

발달의 퇴행을 보여 진단된 제2형 GM1 gangliosidosis 1례

고정민,조태준,채종희,Ko, Jung Min,Cho, Tae Joon,Chae, Jong-Hee 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.2

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

조형요소인 점, 선, 면을 적용한 네일아트 디자인 연구

고정민,Ko, Jung-Min 중소기업융합학회 2020 융합정보논문지 Vol.10 No.11

본 연구는 네일아트의 시각적 표현을 위해 공간을 구성하는 조형의 기본요소인 점, 선, 면을 적용한 네일아트를 제시하여 네일아트 디자인의 창의적인 발상과 예술적인 영역의 확대에 도움이 되고자 한다. 연구방법은 전문서적과 선행연구, 인터넷 웹사이트를 통해 조형요소의 개념과 특성을 고찰하였다. 다양한 표현 기법과 함께 점, 선, 면의 특성이 네일아트에 어떻게 적용되며 시각메세지로 표현되고 있는지를 각 특성에 따라 분석하여 총 6작품을 제작하였다. 본 연구는 조형요소인 점, 선, 면이 가지는 특성을 예술적으로 접근하여 재해석함으로써 네일아트 표현에 대한 시각을 새롭게 모색하고 이를 활용하여 네일아트 디자인의 무한한 가능성을 높이는데 기여하고자 한다. This study aims to help the creative idea of nail art design and the expansion of artistic realm by presenting nail art applied with dot, line, and plane, which are the basic elements of the sculpture that make up the space for visual expression of nail art. The research method considered the concepts and characteristics of the molding elements through professional books, prior research, and Internet website. Along with various expression techniques, the characteristics of dot, line, and plane were applied to nail art and expressed as visual messages, and a total of six works were produced according to each characteristic. This research aims to find a new perspective on nail art expression by reinterpreting the characteristics of dot, line, and plane, which are formative elements, in an artistic approach, and to contribute to enhancing the infinite possibilities of nail art design by utilizing them.

튜블라 토션빔 액슬의 롤 내구 성능 개선 및 실험적 비교

고정민(Ko Jung Min),이경택(Lee Kyoung Teak),신명호(Shin Myong Ho),황상희(Hwang Sang Hee),김헌영(Kim Heon Young) 한국자동차공학회 2007 한국자동차공학회 춘 추계 학술대회 논문집 Vol.- No.-

The advantage of tubular torsion beam axle is to have light weight, sufficient rear package. As time goes by, Target of roll stiffness of rear axle get higher than before for satisfied roll gain related to front and rear roll stiffness. In this study, We will do not only to find the design factor of tubular torsion beam required high roll stiffness, but to correlate between CAE analysis and actual test for design factor related to roll fatigue life of beam. And we will compare the results between forming simulation and prototype based on CAD data.

문화콘텐츠 산업 선순환 구조 구축을 위한 담론

고정민(Ko, Jung-Min),구문모(Ku, Mun-Mo),김시범(Kim, Si-Bum),김영재(Kim, Young-Jae) 인문콘텐츠학회 2012 인문콘텐츠 Vol.0 No.27

한국 문화콘텐츠 산업은 창작과 생산과정의 효율화, 해외시장 진출 등 다양한 측면에서 산업화의 틀을 갖추어가고 있다. 그러나 한국 문화콘텐츠 산업이 지속가능한 성장 기반을 구축하기 위해서는 아직 해결해야 하는 많은 과제들이 남아있다. 본고에서는 문화콘텐츠 산업의 선순환 구조 구축을 위한 담론 중에서 문화 콘텐츠 비즈니스와 마케팅 연구 영역에서 최근 연구자들의 관심을 모으고 있는 4개의 연구주제를 선정, 국내외 연구 성과와 향후 연구 필요성 및 전망을 논의하였다. 해외 시장 진출을 위한 논의로, 싸이의 해외진출 및 <강남스타일>의 확산 과정이 제시한 한류의 다양화, SNS 유통망의 가능성, 미국 시장 진출의 교두보 마련 등과 관련된 함의를 확인하고, 글로벌 코드 모색 및 뉴미디어 유통망의 활용과 관련된 연구의 필요성을 제기하였다. 또한, 비즈니스 모델 혁신에 관한 국내외 연구자들의 다양한 연구 성과를 정리하고, 스마트 미디어 환경에서 새로운 콘텐츠 비즈니스 모델 연구의 필요성을 확인하였다. 지역 문화산업의 산업적 가치에 주목하고, 지역 문화자원을 활용한 공동 브랜딩 방안 모색을 위해 지역 브랜딩 관련 용어와 개념을 확인하였고, 공동브랜드 성과 평가 방식, 지식재산권 전문가 육성 등 공동 브랜딩의 향후 체계적인 연구 방향을 제시하였다. 마지막으로 서비스 혁신의 개념과 관련된 선행 연구 분석 및 콘텐츠 혁신 개념의 재정립을 통해 콘텐츠 융·복합과 소프트 혁신 영역의 개발 등 연구의 필요성을 확인하였다. Korean content industry has been moving forward to the industrialization in many aspects. However, for the Korean content industry to establish itself in the firm basis for sustainable development, there still are many challenges and problems to be resolved. In this article, 4 major issues in content business and marketing research area are selected and discussed for the establishment of content industry structure with virtuous circle. First, for the discussion of globalization of Korean culture content, the success of Psy’s Gangnam Style is discussed as the case which implies the diversification in Hallyu, the potentiality of SNS as the channel to global market, and entrance into North American market. The discussion suggests the need for further research on the global code and utilization of SNS as the content distribution channel. Second, the new content business model in smart media environment is discussed by reviewing the researches on business model innovation, because the creation and capture of value in this rapidly changing media environment are critical for the content industry’s development. Third, while the value of local culture industry draws the attention, discussions on co-branding of local culture resources are reviewed to identify the jargons and concept of local co-branding. The discussion points out the future research direction for systematic development of local co-branding, such as evaluation tool of local co-brand’s performance, and cultivation of local intellectual property expert. Fourth, past researches on concept of service innovation are reviewed to set up the concept of content innovation, and to suggest the direction of further study such as content convergence and development of soft innovation areas.

TWIST1 유전자의 돌연변이가 확인된 Saethre-Chotzen 증후군 2례

고정민(Jung Min Ko),양정아(Jung-Ah Yang),정선용(Seon-Yong Jeong),윤수한(Soo Han Yoon) 대한의학유전학회 2011 대한의학유전학회지 Vol.8 No.2

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상 봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다. Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

네일아트 디자인의 표현기법 분석연구

고정민 ( Jung-min Ko ) 한국미용학회 2020 한국미용학회지 Vol.26 No.6

The constant desire to pursue women's beauty is improving the quality of life for women with the development of the nail industry. This trend also affects nail art and the development of the nail industry is accelerating in a progressive way to double the femininity and the beautiful emotion with artistic acts using various expression techniques. Nail art is a field that is recreated in various designs by various expression techniques and the subjective intention of the artist in the small area of nails. Nail art plays an important part in expressing oneself with the self-satisfaction of self-realization. In addition, according to diversification, individualization, and luxury, they show their own unique fashion leaders, and interest and preference for nails are steadily developing regardless of age. The purpose of this study is to systematically establish the theory of techniques through the classification of nail art expression techniques, to help them to understand them correctly, and to establish the identity of nail art using the right techniques. In line with the advanced needs of women, we should strive to contribute to the development of the nail industry and gain trust in nail art by providing professional knowledge and information on nail art expression techniques. Through the academic approach of nail art, I will be more systematic and specialized to promote the qualitative growth of the technique and to be useful as the theoretical data of the nail art design in the future.