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안강모,박화영,이지현,이민구,김정호,강임주,이상일 대한의학회 2005 Journal of Korean medical science Vol.20 No.1
Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common in Caucasians, it is known to be rare in Asians. Recently, we experienced two cases of CF in Korean children. The patients were girls with chronic productive cough since early infancy. Chest computed tomog-raphy showed the diffuse bronchiectasis in both lungs, and their diagnosis was con-firmed by the repeated analysis of a quantitative pilocarpine iontophoresis test (QPIT). The sweat chloride concentrations of the first patient were 108.1 mM/L and 96.7 mM/L. The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5 -M470V. In the second case, the sweat chloride concentrations were 95.0 mM/L and 77.5 mM/L. Although we performed a comprehensive search for the coding regions and exon-intron splicing junctions of CFTR gene, no obvious disease-related mutations were detected in the second case. To our knowledge, this is the first report of CF in Korean children identified by a QPIT and genetic analysis. The possibility of CF should be suspected in those patients with chronic respiratory symptoms even in Korea. Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common in Caucasians, it is known to be rare in Asians. Recently, we experienced two cases of CF in Korean children. The patients were girls with chronic productive cough since early infancy. Chest computed tomog-raphy showed the diffuse bronchiectasis in both lungs, and their diagnosis was con-firmed by the repeated analysis of a quantitative pilocarpine iontophoresis test (QPIT). The sweat chloride concentrations of the first patient were 108.1 mM/L and 96.7 mM/L. The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5 -M470V. In the second case, the sweat chloride concentrations were 95.0 mM/L and 77.5 mM/L. Although we performed a comprehensive search for the coding regions and exon-intron splicing junctions of CFTR gene, no obvious disease-related mutations were detected in the second case. To our knowledge, this is the first report of CF in Korean children identified by a QPIT and genetic analysis. The possibility of CF should be suspected in those patients with chronic respiratory symptoms even in Korea.
제대혈 유래 인간 비만세포에서의 세포증식 및 히스타민 분비에 대한 Interleukin 9의 영향
안강모,이광신,신미용,박화영,안연화,손대열,이상일 대한 소아알레르기 호흡기학회 2002 Allergy Asthma & Respiratory Disease Vol.12 No.4
Effect of Interleukin-9 on Cell Proliferation and HistamineRelease of Cord Blood-derived Human Mast CellsKang-mo Ahn, M.D., Kwang-shin Lee, M.D.*, Mi-yong Shin, M.D.Hwa-young Park, M.D., Yeon-hwa Ahn, M.D.Dae-yeul Son, M.D.* and Sang-il Lee, M.D. 목 적 : Interleukin 9(IL-9)는 Th2 싸이토카인의 일종으로서 알레르기 염증반응의 병태생리에 관여하는 것으로 알려져 있다. 본 연구에서는 IL-9이 주요 알레르기 염증세포의 하나인 인간 비만세포에 어떠한 영향을 주는지를 알아보기 위하여 시행되었다.방 법 : 본 연구에서는 인간 제대혈에서 CD34 (+) 세포를 분리한 후 stem cell factor(SCF), IL-3, IL-6를 투여함으로써 비만세포를 선택적으로 배양하였다. 8주간 배양이 끝난 후 10×104개의 세포를 분주하여 배양조건을 SCF(100 ng/ mL)만 투여하는 군, IL-9(50 ng/mL)만 투여하는 군, SCF(100 ng/mL)와 IL-9(50 ng/mL)을 병합투여하는 군의 3개 군으로 분리하였다. 4주간 배양을 하여 세포수를 측정하였고, PI 염색으로 사멸을 관찰하였으며, 인간 IgE와 항-인간 IgE를 투여한 후 분비되는 히스타민의 양을 측정하였다.결 과 : 세포 수는 SCF 단독군에 비해 SCF+IL-9 병합군에서 의미있게 증가하였으며,(P< 0.05) 이는 사멸의 억제와 관련되었다. 히스타민의 분비량은 배양조건에 따른 차이를 보이지 않았다.