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윌슨 유전자의 돌연변이 분석: 한국 윌슨병 환자에서의 Arg778Leu 돌연변이
서정기,김종원,Seo, Jeong-Kee,Kim, Jong-Won 대한소아소화기영양학회 1999 Pediatric gastroenterology, hepatology & nutrition Vol.2 No.2
Background: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups. Methods: Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA. Results: Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons. Conclusion: Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.
서정기,Seo, Jeong Kee 대한소아소화기영양학회 2008 Pediatric gastroenterology, hepatology & nutrition Vol.11 No.suppl1
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, the brain and the cornea. Mutations in the WD gene, ATP7B cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 370 mutations are now recognized, scattering throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. None of the laboratory parameters alone allows a definite diagnosis of WD. There are numerous pitfalls in the diagnosis of WD. Low serum ceruloplasmin concentrations, increased 24 hour urinary copper excretion, increased hepatic copper concentrations and the presence of Kayser-Fleischer rings in the cornea are major diagnostic points. A combination of any two of these 4 laboratory findings is strong support for a diagnosis of WD. Molecular methods are now being used to aid diagnosis. Molecular genetic testing has confirmed the diagnosis in individuals in whom the diagnosis is not clearly established biochemically and clinically. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only reliable tool for differentiating heterozygote carriers from affected asymptomatic patients. Currently, genetic testing is of limited value in the primary diagnosis. However, genetic testing will soon play an essential role in diagnosing WD as rapid advancement of biomedical technology will allow more rapid, easier and less expensive mutation detection.
서정기,김인환,장승현,김병옥,류재욱,박정학,Seo, Jeong Gi,Kim, In Hwan,Jang, Seung Hyeon,Kim, Byeong Ok,Ryu, Jae Uk,Park, Jeong Hak Korean Chemical Society 2001 Bulletin of the Korean Chemical Society Vol.22 No.4
Poly(p-tert-butyltrimethoxymonopropyloxycalix[4]arene-methylsiloxane) (TBCX-MS) has been prepared and used as a stationary phase in isothermal capillary gas chromatographic separation of some positional isomers. Retention factors (k) and separatio n factors $(\alpha)$ for the isomers were measured and compared with those on poly(p-tert-butyl-dimethoxydipropyloxycalix[4]arene-tetramethyldisiloxane) (TBCX-TMDS), poly(dimethoxydipropyloxycalix[4]arenetetramethyl-disiloxane) (CX-TMDS). Most of the isomers investigated are well resolved on TBCX-MS. Retention of all the compounds decreases on the three phases in the order, TBCX-TMDS ${\geq}$ TBCX-MS > CX-TMDS. Similar retention values on TBCX-TMDS and TBCX-MS seem to indicate that retention property of the two phases is not significantly affected by the spatial position of the calixarene moiety.
소아기에 발병하는 염증성장질환(IBD)은 성인 IBD와 다른 질환인가? - 조기발병 소아 IBD의 역학적, 임상적, 유전학적 특성 및 치료 시 고려 사항-
서정기,Seo, Jeong-Kee 대한소아소화기영양학회 2011 Pediatric gastroenterology, hepatology & nutrition Vol.14 No.1
Inflammatory bowel disease (IBD) develops during childhood or adolescence in approximately 25% of patients with IBD. Recent studies on pediatric IBD have revealed that early-onset IBD has distinct phenotype differences compared to adult onset IBD. Pediatric early-onset IBD differs in many aspects including disease type, location of the lesions, disease behavior, gender preponderance and genetically attributable risks. This review examines the currently published data on the clinical, epidemiological and genetic differences between early-onset and adult-onset IBD. And finally, therapeutic considerations in the management of pediatric-onset IBD are also discussed.
서정기(Joung-Ki Seo),조희근(Hee-Ken Cho),이덕규(Deog-Gyu Lee),이승훈(Seung-Hoon Lee),최해진(Hae-Jin Choi),강석봉(Seok-Bong Kang) 한국항공우주학회 2009 韓國航空宇宙學會誌 Vol.37 No.6
본 논문은 항우연에서 개발 중인 위성 탑재카메라 FPA-CU(Focal Plane Assembly Cooling Unit) 의 개념설계 및 열설계에 대한 개략적인 내용을 기술하고 있다. FPA-CU은 국내 기술로 설계/제작되는 최초의 우주용 냉각유닛이다. FPA-CU에는 일반적인 히트파이프와 방열판을 이용한 냉각유닛과는 다르게 TBM(Thermal Buffer Mass)이 부착되어 있으므로 열적거동이 기존의 냉각유닛과 다르며, 설계에 있어 천이열전달 해석이 반드시 필요하다. 본 논문에서는 TBM의 용량산출 및 형상적 영향을 포함한 전체 냉각유닛 설계방법을 제시하고 전체 냉각유닛에 대한 열해석 결과를 기술하고 있다. 열해석 결과 냉각유닛의 요구조건을 잘 만족시킴을 알 수 있었으며, 최상단부 히트파이프가 비정상 작동하는 경우 FPA의 온도가 3~4℃ 정도 상승함을 알 수 있었다. 본 연구를 통해 위성용 열제어 유닛 설계에 대한 국내 기술적 자립 가능성을 확인할 수 있었다. Thermal analysis and design of FPA(Focal Plane Assembly)-CU(Cooling Unit) for Earth observation camera is performed. FPA-CU is the first cooling device for a spacecraft which is designed and manufactured by its own technology in Korea. FPA-CU has a special feature, TBM(Thermal Buffer Mass) which is discriminated from typical cooling devices using heat pipes and radiator. TBM can be regarded as a thermal energy reservoir and it shows thermally transient characteristics, which make it difficult to design the size and shape of TBM. In current study, a method to determine the volume and the size of TBM is proposed and validated. The transient thermal analysis for FPA-CU for 5 operational scenarios is performed and validates the final design of FPA-CU (Radiator,TBM, Heat pipe I/F). In case of an abnormal operation of a heat pipe among three radiator heat pipes, the temperature of FPA can be increased 3~4℃ according to the numerical simulation.
서정기(Jeong Kee Seo),박효진(Hyo Jin Park),이두연(Doo Yeon Lee),김기황(Ki Whang Kim),오세창(Se Chang Oh),전재윤(Chae Yoon Chon),박인서(In Suh Park) 대한소화기학회 1997 대한소화기학회지 Vol.29 No.2
Cricopharyngeal dyskinesia is termed complete or incomplete failure of relaxation of the cricopharyngeus muscle and is one of the cause of dysphagia. Reduced maximal distensibility or compliance of cricopharyngeus muscle results in dysphagia, globus sensation, aspiration and repeated pulmonary infection. We experienced a case of cricopharyngeal dyskinesia in a 75-year- old female who complained of dysphagia. She was treated by cricopharyngeal myotomy with improvement in her symptom. (Korean J Gastroenterol 1997; 29: 247 - 251)