| 1. |
- Germa, Alice, et al.
(författare)
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Neonatal factors associated with alteration of palatal morphology in very preterm children : The EPIPAGE cohort study
- 2012
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Ingår i: Early Human Development. - : Elsevier. - 0378-3782 .- 1872-6232. ; 88:6, s. 413-420
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Tidskriftsartikel (refereegranskat)abstract
- Background: Altered palatal morphology has been observed among some preterm children, with possible consequences on chewing, speaking and esthetics, but determinants remain unknown. Aim: To explore the role of neonatal characteristics and neuromotor dysfunction in alteration of palatal morphology at 5 years of age in very preterm children. Study design: Prospective population-based cohort study. Subjects: 1711 children born between 22 and 32 weeks of gestation in 1997 or born between 22 and 26 weeks of gestation in 1998 were included in the study. They all had a medical examination at 5 years of age. Outcome measures: Alteration of palatal morphology. Results: The prevalence of altered palatal morphology was 3.7% in the overall sample, 5.1% among boys and 2.2% among girls (adj OR: 2.52; 95%CI: 1.44–4.42). The risk for altered palatal morphology was higher for lower gestational age (adj OR: 0.85; 95%CI: 0.74–0.97 per week), small-for-gestational age children (adj OR: 2.11; 95%CI: 1.20–3.72) or children intubated for more than 28 days (adj OR: 3.16; 95%CI: 1.11–8.98). Altered palatal morphology was more common in case of cerebral palsy or moderate neuromotor dysfunction assessed at 5 years. Results were basically the same when neuromotor dysfunction was taken into account, except for intubation. Conclusion: Male sex, low gestational age, small-for-gestational age and long intubation have been identified as probable neonatal risk factors for alteration of palatal morphology at 5 years of age in very preterm children. Further studies are needed to confirm these results.
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| 2. |
- Snanoudj, Sarah, et al.
(författare)
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Genome-wide expression analysis in a Fabry disease human podocyte cell line
- 2024
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Ingår i: Heliyon. - : Elsevier BV. - 2405-8440. ; 10:14
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Tidskriftsartikel (refereegranskat)abstract
- Fabry disease (FD) is an X-linked lysosomal disease caused by an enzyme deficiency of alpha-galactosidase A (α-gal A). This deficiency leads to the accumulation of glycosphingolipids in lysosomes, resulting in a range of clinical symptoms. The complex pathogenesis of FD involves lysosomal dysfunction, altered autophagy, and mitochondrial abnormalities. Omics sciences, particularly transcriptomic analysis, comprehensively understand molecular mechanisms underlying diseases. This study focuses on genome-wide expression analysis in an FD human podocyte model to gain insights into the underlying mechanisms of podocyte dysfunction. Human control and GLA-edited podocytes were used. Gene expression data was generated using RNA-seq analysis, and differentially expressed genes were identified using DESeq2. Principal component analysis and Spearman correlation have explored gene expression trends. Functional enrichment and Reporter metabolite analyses were conducted to identify significantly affected metabolites and metabolic pathways. Differential expression analysis revealed 247 genes with altered expression levels in GLA-edited podocytes compared to control podocytes. Among these genes, 136 were underexpressed, and 111 were overexpressed in GLA-edited cells. Functional analysis of differentially expressed genes showed their involvement in various pathways related to oxidative stress, inflammation, fatty acid metabolism, collagen and extracellular matrix homeostasis, kidney injury, apoptosis, autophagy, and cellular stress response. The study provides insights into molecular mechanisms underlying Fabry podocyte dysfunction. Integrating transcriptomics data with genome-scale metabolic modeling further unveiled metabolic alterations in GLA-edited podocytes. This comprehensive approach contributes to a better understanding of Fabry disease and may lead to identifying new biomarkers and therapeutic targets for this rare lysosomal disorder.
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