Update on the Evaluation and Treatment of Osteogenesis Imperfecta

Harrington, Jennifer; Sochett, Etienne; Howard, Andrew

doi:10.1016/j.pcl.2014.08.010

Cited by 79 publications

(103 citation statements)

References 70 publications

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“…The main objectives of OI treatment are to maximize mobility and activities of daily living, as well as reduce bone pain and fragility,18 without neglecting nutritional status improvement, directly associated with this development. The classification of nutritional status according to the WHO criteria for BMI/A showed no significant alterations in most patients.…”

Section: Discussionmentioning

confidence: 99%

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Pileggi

Scalize

Camelo

2016

Revista Paulista de Pediatria (English Edition)

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Objective:To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization.Methods:Cross-sectional study carried out in a university hospital that included seven patients with osteogenesis imperfecta and a control group of 17 healthy children of the same gender and age. Weight and height were measured and bioelectrical impedance was performed. Subsequently, the phase angle was calculated based on resistance and reactance values.Results:The phase angle of the group of children with osteogenesis imperfecta was significantly lower than that of the control group (p<0.05). The body mass index criterion for age of the World Health Organization showed no difference between groups.Conclusions:Children with osteogenesis imperfecta have a nutritional risk detected by the phase angle, which is a useful tool for nutritional screening. The calculation result could help in the diet therapy of patients with osteogenesis imperfecta.

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Section: Discussionmentioning

confidence: 99%

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Pileggi

Scalize

Camelo

2016

Revista Paulista de Pediatria (English Edition)

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“…Physical rehabilitation is also useful as a support to pharmacological treatments of bone strength. Those with good baseline motor func tion require less intervention, particularly patients with osteogenesis imperfecta type I 139,[149][150][151] .…”

Section: Musculoskeletal Interventionsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

504

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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“…Очевидно, что результаты лечения детей с НО зависят в равной степени от адекватности медикаментозной терапии и реабилитационной программы, включающей массаж и лечебную физкультуру, направленные на укре-пления мышечного каркаса тела [11,12].…”

Section: Discussionunclassified