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Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
English: X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A.
The genetics of Bruck syndrome differs from osteogenesis imperfecta. Osteogenesis imperfecta usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [ 6 ] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types.
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
Some professional guidelines recommend prophylaxis in patients who take the equivalent of more than 30 mg hydrocortisone (7.5 mg of prednisolone), especially when this is in excess of three months. [75] It is recommended to use calcium or Vitamin D as prevention. [76] Alternate day use may not prevent this complication. [77]
Bone is broken down by osteoclasts, and rebuilt by osteoblasts, both of which communicate through cytokine (TGF-β, IGF) signalling.Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts.
The PRISMA flow diagram, depicting the flow of information through the different phases of a systematic review. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) is an evidence-based minimum set of items aimed at helping scientific authors to report a wide array of systematic reviews and meta-analyses, primarily used to assess the benefits and harms of a health care ...
Not all individuals with OI have dentinogenesis imperfecta, and the prevalence of DI varies depending on the sub-type of OI: Higher prevalence of DI among individuals with OI type III and IV at 43-82% and 37-100%, respectively; Lower prevalence of DI among individuals with OI type I at 8-40%; No data available for other OI sub-types [5] [10]