PO-0077 Vitamin D Deficiency In Children With Osteogenesis Imperfecta

@article{Meena2014PO0077VD,
  title={PO-0077 Vitamin D Deficiency In Children With Osteogenesis Imperfecta},
  author={Bl Meena and Inusha Panigrahi and R. K. Marwaha},
  journal={Archives of Disease in Childhood},
  year={2014},
  volume={99},
  pages={A275 - A275}
}
Background and aims Osteogenesis imperfecta (OI) is a disorder that leads to fragile bones and significant morbidity. The aim was to find out the prevalence of Vitamin D deficiency in children with OI. Methods In present study, 15 children with clinically severe OI on zoledronate therapy were studied. The biochemical parameters tested were Vit D level and urine DPD level along with the routine parameters like Ca, Po, ALP, and urinary calcium creatinine ratio. We used a cut-off value of 30 ng/ml… 
1 Citations
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta
TLDR
The current pilot study successfully captured the differential expression of inflammation and bone metabolism pathways in OI patients and has a strong potential to become a major contributor to the understanding of OI pathological mechanisms, the discovery of phenotype modifying factors, and the identification of new therapeutic targets.