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[PDF] Top 20 Fatigue in adults with Osteogenesis Imperfecta

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Fatigue in adults with Osteogenesis Imperfecta

Fatigue in adults with Osteogenesis Imperfecta

... of fatigue on daily living in OI versus controls, we compared the FSS scores from our cohort with two previous studies that used the ...investigated fatigue in individuals with MS (multiple sclerosis) and ... See full document

6

Fatigue and disturbances of sleep in patients with osteogenesis imperfecta – a cross sectional questionnaire study

Fatigue and disturbances of sleep in patients with osteogenesis imperfecta – a cross sectional questionnaire study

... in adults with OI, and more prevalent in adults with OI than in the general ...of fatigue was equally experienced among the healthy con- trols and in patients with ...Persistent fatigue that ... See full document

7

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.

... England [21]. The age range of the general population sample was similar to our cohort and 26.9% had a long lasting illness. Overall the respondents with OI, FD and XLH reported more problems in every domain com- pared ... See full document

10

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

... meaningful change in BMD. In addition, we used FEA to assess vertebral biomechanical strength. On the other hand, the number of patients we studied with type III/IV was limited, and we can be less certain of the findings ... See full document

9

Temperament and Physical Performance in Children With Osteogenesis Imperfecta

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 ... See full document

11

Managing the patient with  osteogenesis imperfecta: a multidisciplinary approach

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach

... young adults with OI is complex and challenging due to the heterogeneity both across and within the different ...young adults with OI are supported to improve health and quality of life, family and social ... See full document

11

Therapy with pamidronate in children with osteogenesis imperfecta

Therapy with pamidronate in children with osteogenesis imperfecta

... Type I of OI is the most common and the mildest form as well. The quality of the collagen is normal, but its quantity is insufficient. Mild fractures, slight curvature of the spine, joint laxity and muscle hypotonia can ... See full document

9

Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I

Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I

... in adults with osteogenesis imperfecta, and the optimal strategy for increas- ing BMD and preventing subsequent fractures in adults with osteogenesis imperfecta remains to be ... See full document

7

The ultrastructural changes in bone of patients with osteogenesis imperfecta

The ultrastructural changes in bone of patients with osteogenesis imperfecta

... There are reports on bone mineral density o f 01 patients determined using non-invasive methods. Paterson (1978) measured the metacarpal medullary width in adults with 01 type I and found that, although the hand ... See full document

337

From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta

From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta

... Young adults af- fected by severe forms of OI have also expressed a need to be supported in terms of reproductive issues, such as whether or not they are able to/should have children ... See full document

10

Intravenous Bisphosphonate Therapy in Children With Osteogenesis Imperfecta

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] ... See full document

8

Current and emerging treatments for the management of osteogenesis imperfecta

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, ... See full document

15

Osteogenesis Imperfecta: Ultrastructural and Microanalytical Changes in Bone

Osteogenesis Imperfecta: Ultrastructural and Microanalytical Changes in Bone

... The bone mineral from 01 patients was demonstrated to have a low molar calcium to phosphorus ratio when compared to a hydroxyapatite standard and normal bone (Chapter 4).[r] ... See full document

390

An unusual presentation of osteogenesis imperfecta type I

An unusual presentation of osteogenesis imperfecta type I

... Abstract: Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one ... See full document

5

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

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 best clinical management strategy for AI is to fol- low a detailed treatment plan towards the desired clin- ical outcome. This report presents a case of AI with Class III malocclusion and highlights the rare ... See full document

6

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(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] ... See full document

8

Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone

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 ... See full document

10

Advances in evaluating the fetal skeleton

Advances in evaluating the fetal skeleton

... (eight), osteogenesis imperfecta (six), Roberts syndrome (two), achondroplasia (three), Ellis–van Creveld syndrome (one), metaphyseal dysplasia (one), spondyloepiphyseal dysplasia (one), distal ... See full document

12

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 typ

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] ... See full document

12

Bone Material Properties in Osteogenesis Imperfecta

Bone Material Properties in Osteogenesis Imperfecta

... Abstract Osteogenesis imperfecta entrains changes at every level in bone tissue, from the disorganisation of the collagen molecules and mineral platelets within and between collagen fibr[r] ... See full document

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