作者机构：
[Yang, Li; Wu, Teng-Hui; Peng, Jing] Department of Pediatrics, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China;[Chen, Yan-Hui] Department of Pediatrics, Fujian Medical University Union Hospital, 29 Xinquan Road, Fuzhou, Fujian, China;[Lu, Xiu-Lan; Huang, Jiao-Tian] Department of Pediatric Intensive Care Unit, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China;[You, Jie-Yu] Department of Gastroenterology and Nutrition, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China;[Ou-Yang, Wen-Xian] Department of Hepatopathy, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan, China
通讯机构：
[He, Fang] D;Department of Pediatrics, Xiangya Hospital Central South University, Changsha, China
摘要：
Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged < 18years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the mitochondrial disease criteria (MDC) and molecular diagnostic yield of dual genomic sequencing. Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Forty-six patients (9.1%) had mitochondria-related variants, including 25 patients with nuclear DNA (nDNA) variants, 15 with mitochondrial DNA (mtDNA) variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3). Based on the MDC, 15.2% of the patients with mitochondria-related variants were classified as "unlikely to have mitochondrial disorder". Moreover, 4.5% of the patients with non-mitochondria-related variants and 1.43% with negative genetic tests, were classified as "probably having mitochondrial disorder". Dual genomic sequencing in suspected MDs provided a more comprehensive and accurate diagnosis for pediatric patients, especially for patients with dual genomic variants.
摘要：
Objective： To observe the effects of Conggan Zhixin Prescription （从肝治心组方 CGZXP） on myocardial ischemic of HGF protein expression and ischemic myocardial angiogenesis in rats. Methods： According to completely random method, SD rats were divided into 4 groups： sham-operated group, model group, Shexiang Baoxin pill （从肝治心组方 SXBXP） group and CGZXP group. Acute myocardial infarction animal models were induced by ligating the coronary artery, after model rats were made for 24 hours, giving them medicine 1 times per day. Rats were killed 14 days after modeling, the heart was removed, and cardiac conditions were observed by naked-eyes. Then use immunohistochemistry to determinate and detect angiogenesis and HGF protein expression of ischemic myocardial. Results： The expression of HGF of model group, CGZXP group and SXBXP group was higher than the sham-operated group （P〈0.05 or P〈0.01）. And the expression of HGF of CGZXP group and SXBXP group was higher than the model group （P〈0.05）. The expression of HGF of CGZXP group was higher than SXBXP group, but the difference was not statistically significant （P〉0.05）. Conclusion： CGZXP can effectively increase the expression of HGF and promote neovascularization in ischemic myocardium, and protect ischemic myocardium.
