Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

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Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.

Trisomy of chromosome 21 is associated to congenital heart defects in ∼50% of affected newborns. Transcriptome analysis of hearts from trisomic human foeti demonstrated that genes involved in mitochondrial function are globally downregulated with respect to controls, suggesting an impairment of mitochondrial function. We investigated here the properties of mitochondria in fibroblasts from triso...

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The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...

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Trends in Congenital Heart Defects in Infants With Down Syndrome.

BACKGROUND As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital he...

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Prenatally detectable congenital heart defects in fetuses with Down syndrome.

OBJECTIVE To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity. METHODS Data on fetuses with a karyotypic diagnosis of trisomy 21 were collected between January 2002 and March 2010. The data were analyzed for the gestational age at examination, m...

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the prevalence of celiac disease in down syndrome children with and without congenital heart defects

background the prevalence of celiac disease (cd) is remarkably varied in down syndrome(ds)patientscompared with other diseases.  this study aimed to assess celiac disease prevalence in down syndrome children with and without congenital heart defects (chd) and its comparison with controls. materials and methods this case-control study was performed at a single center on 132 participants in three...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2012

ISSN: 0964-6906,1460-2083

DOI: 10.1093/hmg/dds529