Normative data for iliac bone histomorphometry in growing children

Glorieux, Francis H.; Travers, Rose; Taylor, Amanda; Bowen, J. Richard; Rauch, Frank; Norman, Michael E.; Parfitt, A. M.

doi:10.1016/s8756-3282(99)00257-4

Cited by 312 publications

(335 citation statements)

References 19 publications

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“…The increased vulnerability to frac tures might be explained by abnormalities of the miner alized matrix at different levels, affecting structures that normally hinder crack propagation 126 . First, compared with controls, the alignment of collagen fibrils was found to be more disordered and less lamellar in both oim mouse models 124,127 and biopsy samples from patients with osteo genesis imperfecta 128 ; second, the collagenous matrix is not only reduced in amount 129 but also showed more non enzymatic crosslinks 124 ; third, unmineral ized collagen fibrils from the oim mouse model showed reduced strength under tensioning 130 and more affinity to water 131 . By contrast, less tissue water was found in fully mineralized bone of the oim mice 132 and in bone biop sies from patients with osteogenesis imperfecta 121 .…”

Section: Box 2 | Ehlers-danlos Syndromementioning

confidence: 96%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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Section: Box 2 | Ehlers-danlos Syndromementioning

confidence: 96%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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“…Paired biopsy samples were available for histomorphometric analysis in three patients with OI type VII and five of the patients in the OI comparison group. Biopsy preparation and histomorphometric analyses were performed as previously described [14]. Results for histomorphometric parameters were expressed as a percentage of the average results in subjects without metabolic bone disorders [14].…”

Section: Histomorphometrymentioning

confidence: 99%

“…Biopsy preparation and histomorphometric analyses were performed as previously described [14]. Results for histomorphometric parameters were expressed as a percentage of the average results in subjects without metabolic bone disorders [14]. Nomenclature and abbreviations follow the recommendations of the American Society for Bone and Mineral Research [15].…”

Section: Histomorphometrymentioning

confidence: 99%

Intravenous Pamidronate in Osteogenesis Imperfecta Type VII

2009

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Cyclical intravenous treatment with pamidronate is widely used to treat osteogenesis imperfecta (OI) types I, III, and IV, which are due to dominant mutations affecting collagen type I alpha chains. There is no information about the effects of pamidronate in children with OI type VII, an autosomal-recessive form of OI caused by a mutation in the cartilage-associated protein gene. In this retrospective single-center study, we compared the effects of pamidronate in four girls with OI type VII (age range 3.9-12.7 years) to those in eight girls with OI types caused by collagen type I mutations who were matched for age and disease severity. During 3 years of pamidronate therapy, lumbar spine areal bone mineral density increased and lumbar vertebral bodies improved in shape in patients with OI type VII. Other outcomes such as fracture rates and mobility scores did not show statistically significant changes in this small study cohort. There were no significant side effects noted during the time of follow-up. Thus, intravenous treatment with pamidronate seems to be safe and of some benefit in patients with OI type VII.

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“…The predictability of experimental values by the poroelastic theory is much increased when the fabric anisotropy is taken into account. Glorieux et al, 2000). Furthermore, the pore size in 5% À 10% porosity cortical bone tissue is considered to vary around 20 to 60 lm, which corresponds to the pore size of Haversian canals (Jones et al, 2004;Basillais et al, 2007).…”

Section: Fig 7 (Color Online)mentioning

confidence: 99%

Fabric dependence of quasi-waves in anisotropic porous media

Cardoso

Cowin

2011

The Journal of the Acoustical Society of America

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Assessment of bone loss and osteoporosis by ultrasound systems is based on the speed of sound and broadband ultrasound attenuation of a single wave. However, the existence of a second wave in cancellous bone has been reported and its existence is an unequivocal signature of poroelastic media. To account for the fact that ultrasound is sensitive to microarchitecture as well as bone mineral density (BMD), a fabric-dependent anisotropic poroelastic wave propagation theory was recently developed for pure wave modes propagating along a plane of symmetry in an anisotropic medium. Key to this development was the inclusion of the fabric tensor-a quantitative stereological measure of the degree of structural anisotropy of bone-into the linear poroelasticity theory. In the present study, this framework is extended to the propagation of mixed wave modes along an arbitrary direction in anisotropic porous media called quasi-waves. It was found that differences between phase and group velocities are due to the anisotropy of the bone microarchitecture, and that the experimental wave velocities are more accurately predicted by the poroelastic model when the fabric tensor variable is taken into account. This poroelastic wave propagation theory represents an alternative for bone quality assessment beyond BMD.

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Normative data for iliac bone histomorphometry in growing children

Cited by 312 publications

References 19 publications

Osteogenesis imperfecta

Osteogenesis imperfecta

Intravenous Pamidronate in Osteogenesis Imperfecta Type VII

Fabric dependence of quasi-waves in anisotropic porous media

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