Osteogenesis Imperfecta Type IV
Osteogenesis imperfecta type IV Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen
... which osteogenesis imperfecta (OI) type IV is genetically linked to the pro alpha 2(I) gene of type I collagen synthesize two populations of pro alpha 2(I) ...of type I collagen ...
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Biochemical analysis of callus tissue in osteogenesis imperfecta type IV Evidence for transient overmodification in collagen types I and III
... We analyzed tissue and cells from a stationary and a rapidly growing hyperplastic callus from a patient with osteogenesis imperfecta OI type IV and compared the results with those of com[r] ...
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Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta
... Patients with OI pose significant challenges for the anes- thesiologist. In the past, many patients with moderate to severe OI died by the end of the second decade, mainly due to complications of skeletal chest wall ...
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Assessment on microstructure of bone with osteogenesis imperfecta using medical imaging techniques: A review
... To study the bone mineral density (BMD) and bone microstructure on OI bone, Jameson et al used micro-computed tomography (µCT) for the 3D analysis of lower extremity long bones [8]. Eight bone fragments obtained from ...
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Therapy with pamidronate in children with osteogenesis imperfecta
... occur. Type II is severe, usually lethal in the perinatal period secondary to respira- tory failure or cerebral ...sclera. Type III is progres- sive and ...In type IV, the bone deformities ...
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Current and emerging treatments for the management of osteogenesis imperfecta
... of type IV) do not seem to gain any substantial advantage from this ...the type I collagen molecule, leading to an incorporation of the altered molecule within the matrix, GH treatment must be ...
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Osteogenesis Imperfecta: Ultrastructural and Microanalytical Changes in Bone
... from type II collagen contain types I, III and V collagen (Keen e ta ...the type III collagen may be involved in the regulation of fibril ...of type III collagen from the inextensible skin resulting ...
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Evaluation of teriparatide treatment in adults with osteogenesis imperfecta
... Our data suggest the possibility of a differential treatment response in patients with quantitative defects of collagen (type I OI) versus those with qualitative collagen defects in OI (type III/IV). ...
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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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Syndromes with congenital brittle bones
... if type I OI includes individuals with short stature, or if bone deformity rules out the diagnosis of Type I ...have type IV OI. Type II OI is defined as lethal, but there are cases of ...
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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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<p>Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta</p>
... Interestingly, the distribution of the fi bril diameters in this study presented clear differences between the study groups. The native control sample fi brils ’ diameter was uniformly distributed over the range 50 to 75 ...
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The ultrastructural changes in bone of patients with osteogenesis imperfecta
... 01 type II and reported that no significant abnormalities were seen in the dermis apart from a small difference in the diameter o f the reticular dermis, but aortic collagen diameter was significantly smaller in ...
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Managing the patient with osteogenesis imperfecta: a multidisciplinary approach
... Abstract: Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disor- der characterized by low bone ...The type and severity of OI are ...
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perfecta, pediatrics, muscle strength, range of joint motion, impairment, disability, functional outcome.
... severest type of OI scored the lowest in functional skills and obtained the most parental ...OI type III were wheelchair- bound, the problems with mobility were not sur- ...OI type III to score ...
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In vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta
... Patients and methods: Two patients (67-year-old male and his 26-year-old son) with OI type I were included in this study. Slit lamp biomicroscopic and in vivo laser confocal micro- scopic examinations were ...
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Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report
... , which was in the Japanese female average. We also mea- sured levels of serum bone metabolism markers, and they were within normal limits found in adult women; pyridinoline cross-linked carboxyterminal telopeptide of ...
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Intravenous Bisphosphonate Therapy in Children With Osteogenesis Imperfecta
... Among the reported beneficial effects of bisphos- phonate therapy in OI are increased bone mineral density (BMD), 5–14 decreased fracture rates, 5,8,9,13,14 normalization of bone metabol[r] ...
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Correction of malocclusion and oral rehabilitation in a case of amelogenesis imperfecta by insertion of dental implants followed by Le Fort I distraction osteogenesis of the edentulous atrophic maxilla
... The patient’s main concerns were difficulty in chewing and esthetics. Considering the patient’s relatively young age we aimed for a more stable outcome; Le fort I dis- traction osteogenesis would be more effective ...
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Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I
... Osteogenesis imperfecta is a heterogeneous group of genetic disorders that affect the integrity of connective ...of osteogenesis imperfecta is bone fragility, although other manifestations, ...
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