Sünnikaalukõverad Eestis ja sünnikaalu mõjutavad tegurid: registripõhine uuring

Sildver, Kaire; Veerus, Piret; Lang, Katrin

doi:10.15157/ea.v0i0.12296

Cited by 1 publication

(1 citation statement)

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“…Only 1 of 7 children with collagenopathies had seizures during the neonatal period, which was not different from the group of children without listed gene variants. There were no differences in the number of children who were small for gestational age (<10 percentiles) 65 between the groups. Head circumference at birth was <10 percentiles in 3 of 5 (60%) children with collagenopathy compared to 5 of 46 (11%) children without detected gene variants ( P = .023); however, this finding was not significant after false discovery rate correction (adjusted false discovery rate significance threshold level was 0.0028) ( Figure 2 ).…”

Section: Resultsmentioning

confidence: 83%

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction

et al. 2023

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Introduction The aim of this study was to evaluate genetic risk factors in term-born children with antenatal periventricular hemorrhagic infarction (PVHI), presumed antenatal periventricular venous infarction and periventricular hemorrhagic infarction in preterm neonates. Methods Genetic analysis and magnetic resonance imaging were performed in 85 children: term-born children (≥36 gestational weeks) with antenatal periventricular hemorrhagic infarction (n = 6) or presumed antenatal (n = 40) periventricular venous infarction and preterm children (<36 gestational weeks) with periventricular hemorrhagic infarction (n = 39). Genetic testing was performed using exome or large gene panel (n = 6700 genes) sequencing. Results Pathogenic variants associated with stroke were found in 11 of 85 (12.9%) children with periventricular hemorrhagic infarction/periventricular venous infarction. Among the pathogenic variants, COL4A1/A2 and COL5A1 variants were found in 7 of 11 (63%) children. Additionally, 2 children had pathogenic variants associated with coagulopathy, whereas 2 other children had other variants associated with stroke. Children with collagenopathies had significantly more often bilateral multifocal stroke with severe white matter loss and diffuse hyperintensities in the white matter, moderate to severe hydrocephalus, moderate to severe decrease in size of the ipsilesional basal ganglia and thalamus compared to children with periventricular hemorrhagic infarction/periventricular venous infarction without genetic changes in the studied genes ( P ≤ .01). Severe motor deficit and epilepsy developed more often in children with collagenopathies compared to children without genetic variants ( P = .0013, odds ratio [OR] = 233, 95% confidence interval [CI]: 2.8-531; and P = .025, OR = 7.3, 95% CI: 1.3-41, respectively). Conclusions Children with periventricular hemorrhagic infarction/periventricular venous infarction have high prevalence of pathogenic variants in collagene genes ( COL4A1/A2 and COL5A1). Genetic testing should be considered for all children with periventricular hemorrhagic infarction/periventricular venous infarction; COL4A1/A2 and COL5A1/A2 genes should be investigated first.

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Section: Resultsmentioning

confidence: 83%