[PDF] Top 20 Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

... The functional effect of the variant, which leads to a substitution of an arginine for a histidine in the position 152 of the highly conserved cysteine-rich DAN domain, was ... See full document

... role in normal heart development, the numerous mutations found indicate that GATA4 is a hyper- mutable protein in CHD ...be in contrast to previously published data suggesting that GATA4 is a ... See full document

... changes of GATA4 can dramatically influence cardiac development and embryonic ...survival. In mice, GATA4 homozygous knockout embryos die in early embryonic stage because of failed ... See full document

... synthesis: Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe ...observed in 7 to 50% of the ... See full document

... Congenital heart disease (CHD) is a gross structural anomaly of the heart or intrathoracic great vessels that is present at birth and manifests with actual or potential ... See full document

... diagnosis and treatment of congenital heart defects have a well-known impact on patient´s quality of ...This study aimed to describe the population of ... See full document

... mutations in embryogenesis may be related to birth defects, cancer type, or both ...CHD and cancer remains elusive and it is not known whether the concurrence of CHD and various ... See full document

... Patients with DS are advised to have high awareness and refer to do a serology test for CD in regards to the presence of clinical features ...quality of life for individuals ... See full document

... two patients each. Other heart defects in this group, included coarctation of the aorta, bicuspid aortic valve, aneurysm of the sinus of Valsalva and aortic ... See full document

... tetralogy of Fallot phenotype), defects that can be associated with early left-right establishment ...non-synonymous variant in exon 2 of DAND5 gene ...change of ... See full document

... majority of congenital heart disease (CHD) is sporadic, with a minority of cases associated with a known genetic ...Combinations of genetic- environmental factors ... See full document

... onset of a fixed overload to the ventricle may not be restricted to the hospital phase, being observed in experimental studies of late ventricular dysfunction and areas of necrosis ... See full document

... feelings of hopelessness, which has been linked to impotence and insecurity, when faced with this situation of prolonged ...revealed in the statements by the desire to escape from ... See full document

... synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of ...ence of chromosomal abnormalities detected by the ... See full document

... discovery of a case of congenital heart disease in one of its members and discuss the nursing intervention directed to families of children with ... See full document

... consists of physiotherapy, deep breathing, incentive ...reverse and it is necessary association with another method, as in the case report from Silva et ...[16], in which a child ... See full document

... Congenital heart defects were present in 604 patients (50%) with Down syndrome and among these, 338 ...male and 269 (44.5%) were female. he most common heart ... See full document

... CHD patients (62 male) aged from 12 to 26 years ...occasion in a tertiary hospital. Demographic information and clinical history were ...Primary and secondary outcome measures: Questionnaires ... See full document

... grinding and polishing. Back scattered electrons (BSE) were utilized in SEM in order to reveal difference in chemical compositions of microcomponents present in particular ... See full document

... 12 patients with different degrees of cardiac ...Most patients were in functional classes I or II, because ...symptoms, and, supposedly, had lower indices of ... See full document