ABSTRACT
Objective To study the well-related cardiomyopathy genes in children with cadiomyopathy living in south china.Methods 43 childrens with cardiomyopathy admitted to Guangdong General Hospital between January 2015 to March 2017 were enrolled in this study.A standardized protocol for ultra-high coverage nextgeneration sequencing of the well-related cardiomyopathy genes were performed in all patients.A sequencing of Sanger were used to their immediate family members.Results A total of 28 mutations of pathogenic and suspected pathogenic in 23 genes were identified in 21 patients (48.8％).All of the mutations occurred only once.Conclusions Most cases with cardiomyopathy have gene mutations.The sequencing of the well-related cardiomyopathy genes can assist the clinical diagnosis.And many variants which the test detected need to be followed-up in order to gain benefit for the patients and their families.
ABSTRACT
Objective:The aim of the present study is to investigate the expression of TGF- ?1 and bFGF in human DCM myocardium, as well as the roles of TGF - ?1 and bFGF in DCM myocardium remodeling and the mechanism of sudden death induced by DCM. Methods:30 specimens of DCM heart and control have been collected from forensic pathologic autopsy. Tissues have been prepared by paraffin section for HE staining, and immunohistochemistry with antibodies against TGF?1, TGF?R1, bFGF, bFGFR. The staining results have been observed with light microscope and analyzed by image processing system. Results:The results showed that the protein expression of the TGF - ?1in DCM myocardium was increased,and there was no significant difference of the bFGF protein expression between DCM and controls. Conclusion :The results of this experiment indicate that TGF- ?1 is the most important cellular factor in DCM myocardium remodeling,and the role of bFGF in the remodeling of DCM myocardium needs to be further studied.