Does pamidronate enhance the osteogenesis in mesenchymal stem cells derived from fibrous hamartoma in congenital pseudarthrosis of the tibia?

Neurofibromatosis type 1 (NF1) is a commonly occurring genetic disorder in children. Mutation in the NF1 gene has its implication in poor osteoblastic capabilities. We hypothesised that pamidronate will enhance the osteoblastic potential of the mesenchymal stem cells (MSCs) derived from lipofibromatosis tissue of children with congenital pseudarthrosis tibia (CPT) associated with NF1.

Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report.

Case: We report a case of heterozygous mutation of c.-14C>T in the 5'-untranslated region of the interferon-induced transmembrane protein 5 in a nine-year-old girl. She was diagnosed with type-V osteogenesis imperfecta based on the classic features of bone fragility, radial head dislocation, forearm interosseous membrane calcification, limited forearm rotation, hyperplastic callus formation, and radiodense metaphyseal bands, as well as absent blue sclerae, absence of hearing loss, and absence of dentinogenesis imperfecta.