Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation DOI
Nunzio Salfi,

Sabrina Gismondi,

A. Martinelli

et al.

Fetal and Pediatric Pathology, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 10

Published: April 24, 2025

Introduction: Congenital venous malformations (VMs) are typically located in the skin of head and neck, but extension to deep tissues visceral organs may occur. In 20% cases, sporadic VMs caused by somatic mutations PIK3CA gene, which determines aberrant angiogenesis. Case report: Intrauterine death a fetus with known extensive vascular lesion right hemithorax occurred at 28 weeks + 6 days. Autopsy revealed abundant bilateral pleural effusions, histology showed VM. High-depth next-generation sequencing for TEK on amniocytes was negative. Postmortem real-time polymerase chain reaction paraffin-embedded samples p.H1047X hotspot mutation exon 20. Conclusion: To best our knowledge, this is first case VM stillbirth. Extensive lesions carry high risk fetal demise due high-output cardiac failure.

Language: Английский

PlacentalIgf1Overexpression Sex-Specifically Impacts Mouse Placenta Structure, Altering Offspring Striatal Development and Behavior DOI Creative Commons
Annemarie Carver,

Faith M Fairbairn,

Robert J. Taylor

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: March 29, 2025

ABSTRACT Insulin-like growth factor 1 (IGF1) is produced primarily in the placenta utero and an essential hormone for neurodevelopment. Specifically, how placental IGF1 production persistently influences brain unclear. This study evaluated effects of Igf1 overexpression on embryonic postnatal development, particularly striatum, a region highly linked to neurodevelopmental disorders. Placental was overexpressed via placental-targeted CRISPR manipulation. altered structure function distinctly females males. Early differences trajectory striatal as adult showed persistent changes cell composition dependent behavior while males were less affected outcomes. Overall, these results demonstrate that expression alters development ways relevant These findings expand our understanding influence neurodevelopment will aid identifying preventive interventions. GRAPHICAL

Language: Английский

Citations

0
Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation DOI
Nunzio Salfi,

Sabrina Gismondi,

A. Martinelli

et al.

Fetal and Pediatric Pathology, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 10

Published: April 24, 2025

Introduction: Congenital venous malformations (VMs) are typically located in the skin of head and neck, but extension to deep tissues visceral organs may occur. In 20% cases, sporadic VMs caused by somatic mutations PIK3CA gene, which determines aberrant angiogenesis. Case report: Intrauterine death a fetus with known extensive vascular lesion right hemithorax occurred at 28 weeks + 6 days. Autopsy revealed abundant bilateral pleural effusions, histology showed VM. High-depth next-generation sequencing for TEK on amniocytes was negative. Postmortem real-time polymerase chain reaction paraffin-embedded samples p.H1047X hotspot mutation exon 20. Conclusion: To best our knowledge, this is first case VM stillbirth. Extensive lesions carry high risk fetal demise due high-output cardiac failure.

Language: Английский

Citations

0