Objective:To evaluate the left ventricular segmental strains,global strains and systolic function in the patients with acute myocardial infarction (AMI) after percutaneous coronary intervention(PCI)with three-dimensional speckle tracking echocardiography(3D-STI),and to clarify the characteristics of early myocardial strain changes after PCI and their clinical values.Methods:Thirty patients received PCI for left anterior descending branch disease were enrolled as case group;at the same period, 30 healthy middleaged and elderly people were selected as control group.After two-dimensional ultrasound data were obtained regularly, the myocardial motion and systolic functions of the patients in two groups were detected with 3D-STI, and all segmental strain, global longitudinal strain(GLS), global radial strain(GRS), global circumferential strain (GCS)and global area strain(GAS) values of left ventricle and left ventricular ejection fraction (LVEF) values were collected.Results:Compared with control group, the global strain values of the patients in case group were lower than those in control group;9/16 longitudimal strain(LS), 8/16 circumferential strain(CS), 5/16 radial strain(RS) and 11/16 area strain(AS) were significantly lower than those in control group(P<0.05).The decrease of strain value was mainly concentrated in the anterior segment of the anterior wall, the anterior segment of the anterior wall, anterior apical segment, anterior septal basal segment, anterior septal segment, posterior septal basal segment, posterior septal segment, and posterior septal segment.The GLS,GAS and GCS in case group were negatively correlated with LVEF(r=-0.819,r=-0.897,r=-0.807,P<0.0001);the GRS was postively correlated with LVEF(r=0.862,P<0.0001).Conclusion:3D-STI can quantitatively analyze the segmental wall motion of left ventricle and could apply the parameters to evaluate the therapeutic efficacy after PCI.

OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.

METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.

RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.

CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.

Adolescent ; Amino Acid Metabolism, Inborn Errors ; diagnostic imaging ; enzymology ; genetics ; Base Sequence ; Brain Diseases, Metabolic ; diagnostic imaging ; enzymology ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Homozygote ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography