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Yueh-Chun Li,Yi-Ju Pan,Fuu-Jen Tsai,Chyi-Chyang Lin 한국유전학회 2016 Genes & Genomics Vol.38 No.1
Partial 9p deletion syndrome and partial 18q duplication syndrome each have distinct clinical features. We describe the prenatal molecular cytogenetic analysis of a de novo unbalanced karyotype with deletion of 9p23-pter and duplication of 18q12.2-qter in a mild dysmorphic female fetus. Fetal ultrasonography was performed and detailed karyotype analyses were conducted using a combination of G-banding, SKY analysis and FISH with chromosome arm specific sub-telomeric DNA probes and chromosomal region specific BAC clone probes. The fetal sonography and fetal echocardiography at 17 weeks’ gestation did not reveal any anomaly while the fetus had a large unbalance karyotype of 46,XX,der(9)t(9;18) (p23;q12.2) de novo. Its external phenotype at 21 weeks appeared to have some mild dysmorphic features including hypertelorism, low-set ears, micrognathia/retrognathia, clenched hands and rocker bottom feet. These dysmorphic features are seen in the Edward syndrome but with milder degrees.
Tung-Sheng Chen,Show-Yih Liou,Hsi-Chin Wu,Fuu-Jen Tsai,Chang-Hai Tsai,Chih-Yang Huang,Yen-Lin Chang 한국식품영양과학회 2011 Journal of medicinal food Vol.14 No.7
Uremic patients with diabetes suffer from high levels of oxidative stress due to regular hemodialysis therapy (neutrophil activation induced by hemo-incompatibility between the hemodialyser and blood) and complications associated with diabetes. Several plasma biomarkers were screened in 13 uremic diabetic patients after receiving the mixture of (–)-epigallocatechin gallate (EGCG), a major component of green tea extract, and Amla extract (AE), from Emblica officinalis, the Indian gooseberry, for 3 months. We found that oral administration of a 1:1 mixture of EGCG and AE for 3 months significantly improved antioxidant defense as well as diabetic and atherogenic indices in uremic patients with diabetes. Furthermore, no significant changes in hepatic function, renal function, or inflammatory responses were observed. These results suggest that a 1:1 combination of EGCG and AE is a safe and effective treatment for uremic patients with diabetes.
Wen, Wanqing,Zheng, Wei,Okada, Yukinori,Takeuchi, Fumihiko,Tabara, Yasuharu,Hwang, Joo-Yeon,Dorajoo, Rajkumar,Li, Huaixing,Tsai, Fuu-Jen,Yang, Xiaobo,He, Jiang,Wu, Ying,He, Meian,Zhang, Yi,Liang, Jun IRL Press 2014 Human molecular genetics Vol.23 No.20
<P>Recent genetic association studies have identified 55 genetic loci associated with obesity or body mass index (BMI). The vast majority, 51 loci, however, were identified in European-ancestry populations. We conducted a meta-analysis of associations between BMI and ∼2.5 million genotyped or imputed single nucleotide polymorphisms among 86 757 individuals of Asian ancestry, followed by <I>in silico</I> and <I>de novo</I> replication among 7488–47 352 additional Asian-ancestry individuals. We identified four novel BMI-associated loci near the <I>KCNQ1</I> (rs2237892, <I>P</I> = 9.29 × 10<SUP>−13</SUP>), <I>ALDH2/MYL2</I> (rs671, <I>P</I> = 3.40 × 10<SUP>−11</SUP>; rs12229654, <I>P</I> = 4.56 × 10<SUP>−9</SUP>), <I>ITIH4</I> (rs2535633, <I>P</I> = 1.77 × 10<SUP>−10</SUP>) and <I>NT5C2</I> (rs11191580, <I>P</I> = 3.83 × 10<SUP>−8</SUP>) genes. The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women. Of the 51 BMI-associated loci initially identified in European-ancestry populations, we confirmed eight loci at the genome-wide significance level (<I>P</I> < 5.0 × 10<SUP>−8</SUP>) and an additional 14 at <I>P</I> < 1.0 × 10<SUP>−3</SUP> with the same direction of effect as reported previously. Findings from this analysis expand our knowledge of the genetic basis of obesity.</P>
Association of Interleukin-10 A-592C Polymorphism in Taiwanese Children with Kawasaki Disease
Kai-Chung Hsueh,Ying-Ju Lin,Jeng-Sheng Chang,Lei Wan,Yu-Hsin Tsai,Chang-Hai Tsai,Chih-Ping Chen,Fuu-Jen Tsai 대한의학회 2009 Journal of Korean medical science Vol.24 No.3
Elevated serum levels of interleukin-10 (IL-10) have been reported in patients with Kawasaki disease (KD). IL-10 reduces the inflammatory actions of macrophages and T cells and it may play a significant role in the regulation of inflammatory vascular damage associated with systemic vasculitis. The aim of this study was to examine whether -592 IL-10 promoter polymorphism is a susceptibility or severity marker of KD in Chinese patients in Taiwan. The study included 105 KD patients and 100 normal controls. Genotype and allelic frequencies for the IL-10 gene polymorphism in both groups were compared. There were no significant between-group differences in the genotype distribution of IL-10 A-592C gene polymorphism (P=0.08). However, the frequency of the -592*A allele was significantly increased in the patients with KD compared with controls (71.9% vs. 61.0%, P=0.019). The odds ratio for developing KD in individuals with IL-10 -592*A allele was 1.64 (95% confidence interval, 1.06-2.52) compared to individuals with the IL-10-592*C allele. No significant difference was observed in the genotype and allelic frequencies for the IL-10 A-592C polymorphism between patients with and without coronary artery lesions. The IL-10-592*A allele may be involved in the development of KD in Taiwanese children.