osteogenesis imperfecta
Teeth in Osteogenesis Imperfecta: A Light Microscopic Study
... Teeth in Osteogenesis Imperfecta A Light Microscopic Study Med J Malaysia Vol 41 No 2 June 1986 TEETH IN OSTEOGENESIS IMPERFECTA A LIGHT MICROSCOPIC STUDY C H SIAR SUMMARY The light microscopic featur[.] ...
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An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen
... An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1[r] ...
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Current and emerging treatments for the management of osteogenesis imperfecta
... Abstract: Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth ...Keywords: osteogenesis imperfecta, ...
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Animal models of osteogenesis imperfecta: applications in clinical research
... Abstract: Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a genetic disease characterized by extreme bone fragility and consequent skeletal ...
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Evaluation of teriparatide treatment in adults with osteogenesis imperfecta
... Background. Adults with osteogenesis imperfecta (OI) have a high risk of fracture. Currently, few treatment options are available, and bone anabolic therapies have not been tested in clinical trials for OI ...
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Experience With Bisphosphonates in Osteogenesis Imperfecta
... of osteogenesis imperfecta, a genetic disorder of reduced bone mass and frequent fractures, was elusive, and treatment was focused on maximizing mobility and ...of osteogenesis imperfecta 14 ...
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Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
... The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate[r] ...
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Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I
... with osteogenesis imperfecta type I who was treated with bisphosphonates and ...genesis imperfecta type I who had frequently experienced painful fragility fractures consulted our clinic because of ...
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A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen
... Abstract A fraction of the proalI and proa2I chains in type I procollagen synthesized by the fibroblasts from a proband with a lethal variant of osteogenesis imperfecta were overmodified[r] ...
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The ultrastructural changes in bone of patients with osteogenesis imperfecta
... Osteogenesis Imperfecta (01) is a heterogeneous heritable connective tissue disorder frequently caused by the mutations of two genes (COL lA l and COL 1A2) encoding for type 1 ...
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Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone
... It has been suggested that PP 1 may be important in calcium metabolism because PP 1 can prevent the precipitation of calcium phosphates in vitro and in vivo, and can slow the rates at which hydroxyapatite crystals grow ...
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Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report
... Osteogenesis imperfecta (OI), colloquially known as “brit- tle bone disease,” is a broad term for a group of congenital disorders affecting the connective tissue resulting in a sus- ceptibility to ...
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Systematic Review on the Incidence of Bisphosphonate Related Osteonecrosis of the Jaw in Children Diagnosed with Osteogenesis Imperfecta
... Currently, osteogenesis imperfecta patients are treated as high risk candidates for developing osteonecrosis of the jaw after dental ...of osteogenesis imperfecta patients being at any risk of ...
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Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta
... Data for this cross-sectional study were collected from August 2011 to August 2012 at HCPA, a university hospital in Southern Brazil. A convenience sampling strategy was used to recruit caregivers of children and ...
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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
... 3.5 Associations between genotype and audiological phenotype in a selected sample of 114 OI patients For the investigation of potential associations between hearing loss and the underlying genotypic characteristics, only ...
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Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
... Total genomic DNA was isolated from peripheral blood using standard extraction methods. DNA sequencing of all 51 polymerase chain reaction-amplified exons of the COL1A1 gene and 52 exons of the COL1A2 gene, in- cluding ...
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Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta
... Copyright © 2016 Elizabeth Vue et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
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Impact of Bisphosphonates on the Osteoclast Cells of Osteogenesis Imperfecta Patients
... Bisphosphonates (BPs) are widely used for treatment of osteogenesis imperfecta (OI). However, prolonged use may be associated with suppression of bone turnover, the exact molecular mechanism of which is ...
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Temperament and Physical Performance in Children With Osteogenesis Imperfecta
... C hildren with osteogenesis imperfecta (OI) are an engaging group of youngsters who interact well with other children as well as with adults. Despite relatively severe physical impair- ments and body ...
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Bilateral papilledema in a child with osteogenesis imperfecta
... Osteogenesis imperfecta (OI) is a heritable disease of the connective tissue characterised by lower bone mass, bone fragility and skeletal deformities. The major health conse- quences in OI arise from ...
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