目的先天性心脏病相关性肺动脉高压(pulmonary arterial hypertension related to congenital heart disease,PAH-CHD)是肺动脉血流动力学异常所致的一种疾病。研究肺循环血流动力学特异性,有助于了解PAH-CHD发生发展的生物力学因素。...目的先天性心脏病相关性肺动脉高压(pulmonary arterial hypertension related to congenital heart disease,PAH-CHD)是肺动脉血流动力学异常所致的一种疾病。研究肺循环血流动力学特异性,有助于了解PAH-CHD发生发展的生物力学因素。方法对5例PAH-CHD患儿和5例无PAH(Non-PAH)的先天性心脏病患儿通过临床及影像资料收集,重建三维血管模型,利用计算流体动力学模拟肺动脉血液流动,对比分析肺动脉血流动力学相关速度流线、壁面剪切力(wall shear stress,WSS)及单位体表面积平均能量损失(·E)差异。结果血流动力学相关指标显示,PAH-CHD患儿左右肺动脉分支处流速和WSS明显升高,主肺动脉处WSS明显降低,·E呈显著增加趋势且与肺动脉直径及入口流量呈明显正相关。结论PAH-CHD患儿较Non-PAH患儿肺动脉分支处流速和WSS明显升高,主肺动脉WSS降低,·E增加,表明这些血流动力学因素与PAH-CHD密切相关,是临床评估PAH-CHD的潜在血流动力学指标。展开更多
Objective: To further explore the mechanism of congenital pyrimidine 5'-nucleotidase I deficiency. Methods; The samples were collected from the family members of a patient with P5'N- I deficiency. The enzyme a...Objective: To further explore the mechanism of congenital pyrimidine 5'-nucleotidase I deficiency. Methods; The samples were collected from the family members of a patient with P5'N- I deficiency. The enzyme activities were measured by UMP method and the enzyme proteins were quantified by ELISA while the morphology of peripheral blood cells was observed. Results: The enzyme contents reduced as their enzyme activities decreased in the family especially in four members. There was a significant positive correlation(r =0. 955) between the activity and the content of P 5'N- I . The count of the stippling cell was varied in the family. Conclusion.- One of the reasons for congenital P5' N- I deficiency might be the deficiency in the enzyme content. The morphology of peripheral blood erythrocyte may be an assistant diagnotic index. The P5'N- I activities and contents were measured simultaneously may be a effective method in clinic diagnosis.展开更多
Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demon...Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 （TBX20） contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A （p.D176N）, was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs （SIFT, Polyphen2, and MutationTaster）. This mutation was also not presented in the current Single Nucleotide Polymorphism Database （dbSNP） or National Heart, Lung, and Blood Institute （NHLBI） Exome Sequencing Project （ESP）. In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.展开更多
文摘目的先天性心脏病相关性肺动脉高压(pulmonary arterial hypertension related to congenital heart disease,PAH-CHD)是肺动脉血流动力学异常所致的一种疾病。研究肺循环血流动力学特异性,有助于了解PAH-CHD发生发展的生物力学因素。方法对5例PAH-CHD患儿和5例无PAH(Non-PAH)的先天性心脏病患儿通过临床及影像资料收集,重建三维血管模型,利用计算流体动力学模拟肺动脉血液流动,对比分析肺动脉血流动力学相关速度流线、壁面剪切力(wall shear stress,WSS)及单位体表面积平均能量损失(·E)差异。结果血流动力学相关指标显示,PAH-CHD患儿左右肺动脉分支处流速和WSS明显升高,主肺动脉处WSS明显降低,·E呈显著增加趋势且与肺动脉直径及入口流量呈明显正相关。结论PAH-CHD患儿较Non-PAH患儿肺动脉分支处流速和WSS明显升高,主肺动脉WSS降低,·E增加,表明这些血流动力学因素与PAH-CHD密切相关,是临床评估PAH-CHD的潜在血流动力学指标。
文摘Objective: To further explore the mechanism of congenital pyrimidine 5'-nucleotidase I deficiency. Methods; The samples were collected from the family members of a patient with P5'N- I deficiency. The enzyme activities were measured by UMP method and the enzyme proteins were quantified by ELISA while the morphology of peripheral blood cells was observed. Results: The enzyme contents reduced as their enzyme activities decreased in the family especially in four members. There was a significant positive correlation(r =0. 955) between the activity and the content of P 5'N- I . The count of the stippling cell was varied in the family. Conclusion.- One of the reasons for congenital P5' N- I deficiency might be the deficiency in the enzyme content. The morphology of peripheral blood erythrocyte may be an assistant diagnotic index. The P5'N- I activities and contents were measured simultaneously may be a effective method in clinic diagnosis.
基金Project supported by the National Natural Science Foundation of China （Nos. 81370204, 81300072, and 81101475） Electronic supplementary materials： The online version of this article （htlp：//dx.doi.org/10.1631/jzus.B1400062） contains supplementary materials, which are available to authorized users
文摘Congenital heart disease （CHD） is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect （ASD） is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 （TBX20） contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A （p.D176N）, was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs （SIFT, Polyphen2, and MutationTaster）. This mutation was also not presented in the current Single Nucleotide Polymorphism Database （dbSNP） or National Heart, Lung, and Blood Institute （NHLBI） Exome Sequencing Project （ESP）. In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.
