1.Exclusive gene mapping on a Chinese familial IgA nephropathy family
Shumei SHI ; Linghan GAO ; Xuezhi ZHAO ; Aiping ZHANG ; Yaohai DING ; Yanxia WANG ; Guoyin FENG ; Lin HE
Chinese Journal of Nephrology 2011;27(2):77-81
Objective To initially map the gene responsible for autosomal dominant familial IgA nephropathy of a Chinese family by exclusive the five loci that had been reported with linkage analysis.Methods The genetic pattern of the familial IgA nephropathy was identified and the genomic DNA was extracted from the blood samples collected from the family members.Short tandem repeat (STR) inside the loci that had been reported was selected,such as 2q36,3p23-24,4q26-31,6q22-23,17q12-22,and the data with two-point linkage analysis were performed.Results Autosomal dominant inheritance pattern was demonstrated in phenotypes of the family and there was no linkage relationship in the above five loci of chromosomes because the maximum two-point LOD score was 0.39 at D17S1868.Conclusion Following exclusion of the loci which had been reported,there are other new pathopoiesis loci of FIgAN and it reveals that FIgAN has the genetic heterogeneity according to initial result at the same time.
2.Technique improvement of thoracoabdominal CT scan for patients with arm-raising disability
Zhidong YUAN ; Yuanjian LIU ; Guoyin JIANG ; Fei FENG ; Chenglin WANG ; Pengcheng LIU
Chinese Journal of Radiology 2010;44(2):198-201
Objective To explore a new scanning technique to reduce and avoid image artifacts of thoracoabdominal CT and improve image quality for patients who cannot raise their arms. Methods Sixty-one patients with arm-raising disability between March 2004 and May 2009 were enrolled in the study. Thirty-one cases before June 2007 were scanned with their arms beside their body (control group), 30 cases after June 2007 were scanned with their arms shifting to different imaging planes of the spine(study group), and another 30 patients who can raising their arms were taken as routine group. The images artifacts were blindly evaluated by 5-points scale (severe, less severe, moderate, minimum and no artifact) by 2 experienced CT technologists and one radiologist and compared between the three groups (χ~2 test). CT values and its noise of the liver with or without artifact of the three groups were measured and analyzed by one-way ANOVA test. Results In the control group, 11 cases had severe, 15 cases had less severe, 5 cases had moderate. In the study group, 6 cases had moderate, 15 cases had minimum, 9 cases had no artifact. In the routine group, 8 cases minimum and 22 cases had no artifact. Image quality was significantly improved in the study group compared to the conventional group where χ~2 = 95.32 and P <0.01. CT value and the noise of the liver without artifact were (54.5±3.0) HU and 10. 7±2.4 in the control group, (52.0±3.5) HU and 10.7±0.5 in the study group, (53.7±3.1) HU and 9.9±0.5 in the routine group, respectively. CT value and noise of the liver with artifact were (41.7±8.4) HU and 17.9±2.6 in control group, (53.1±6.9) HU and 11.0±0.7 in the study group, (54.1±2.4) HU and 9.9±0.5 in the routine group, respectively. The CT value and its noise variation with artifact were significantly higher in the control group than the study group and the control group, where F = 36.352,235. 848, respectively and P <0.01. Conclusion The image quality can be improved and the artifact can be minimized for the patients with arm-raising disability by shifting their arm position to the different imaging planes of the spine.