Osteogenesis imperfecta: diagnosis and treatment

Abstract

Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.

Expression of collagen type 1 alpha 1 indicates lymph node metastasis and poor outcomes in squamous cell carcinomas of the lung

“…This gene encodes the pro-alpha1 chains of type I collagen (Zhang et al, 2018b;Zhang et al, 2018a, p. 1). COL1A1 is often found in connective tissues (e.g., bone and tendon) and thus its mutation is most closely associated with osteogenic diseases, specifically osteogenesis imperfecta (Palomo, Vilaça & Lazaretti-Castro, 2017). Dysregulation of COL1A1 has been identified in several different cancers including breast (Liu et al, 2018, p. 1) protocol (see Methods for details).…”

Paradoxical side effects of bisphosphonates on the skeleton: What do we know and what can we do?

“…To control pediatric ODs, N-BPs were first used only in the 90s, with the application of pamidronate to treat osteogenesis imperfecta (OI) (Eghbali-Fatourechi, 2014). Nowadays, N-BPs are considered the first line in the management of most pediatric ODs (Baroncelli & Bertelloni, 2014;Eghbali-Fatourechi, 2014;Palomo, Vilaça, & Lazaretti-Castro, 2017;Soares et al, 2016) and are also indicated for other conditions, such as the recovery of bone mass and the reduction of fracture rates in bone disorders associated with immobilization (Baroncelli & Bertelloni, 2014;Eghbali-Fatourechi, 2014). The main N-BPs prescribed in pediatric patients are alendronate, pamidronate, and zoledronate (Baroncelli & Bertelloni, 2014;Eghbali-Fatourechi, 2014;Muderis, 2007) the last one being specifically used in the treatment of pediatric bone malignancies (Eghbali-Fatourechi, 2014).…”

“…there are no standardized protocols for each condition (use and duration of therapy); their side effects in axial-appendicular and craniofacial skeletal growth and their impact in adulthood have not been extensively evaluated (Baroncelli & Bertelloni, 2014;Palomo et al, 2017;Soares et al, 2016); and the long-term safety of the drugs in childhood is unclear because of the pediatric physiological characteristics of bone remodeling (Baroncelli & Bertelloni, 2014;Palomo et al, 2017).…”

The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta

“…The repeatedly revised classification of OI is based on the assessment of phenotype and determination of genotype [ 4 ]. At present, mainly four [ 16 ], [ 54 ] or five [ 4 ] types are distinguished. However, much more subtypes are classified in clinical research through improved genetic analyses of affected individuals [ 4 ], [ 16 ].…”