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3027 Suchergebnisse für:

Osteogenesis imperfecta 

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  1. Open Access 14.05.2024 | Online First

    Correlation of serum DKK1 level with skeletal phenotype in children with osteogenesis imperfecta

    Osteogenesis imperfecta (OI) is a rare monogenic hereditary osteopathy with an incidence of 1 in 15,000 to 20,000 live births, characterized by bone fragility and multiple bone fractures [ 1 ]. OI is caused by alteration in synthesis and …

  2. 02.05.2024 | Online First

    Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta

    Osteogenesis Imperfecta is a rare, hereditary bone condition with an incidence of 1/15,000–20,000. Symptoms include bone fragility, long bone deformity, scoliosis, hypermobility, alongside secondary features such as short stature, basilar …

  3. 19.04.2024 | Online First

    Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models

    Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and …

  4. Open Access 01.12.2024 | OriginalPaper

    ‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta

    Osteogenesis Imperfecta (OI) is a rare genetic disease that affects the connective tissue and is the most common herile bone fragility disorder in children [ 1 – 3 ]. This condition is characterized by reduced bone mass and skeletal fragility …

  5. 22.04.2024 | Online First

    Osteoid osteoma appearing after bony fracture in a girl with osteogenesis imperfecta

    Osteoid osteoma (OO) is a common, benign bone tumor. However, there are no case reports of OO associated with osteogenesis imperfecta (OI), or pathological fractures in OO. A 3-year-old girl with OI sustained a complete right tibial diaphyseal …

  6. Open Access 01.12.2024 | OriginalPaper

    Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

    Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness. Healthcare systems may …

  7. Open Access 01.12.2024 | OriginalPaper

    Home care needs assessment among caregivers of children and adolescents with osteogenesis imperfecta: a cross-sectional study

    Osteogenesis imperfection (OI) is a rare genetic disease occurring in 1 in 15–20,000 births [ 1 ]. OI is characterized by bone fragility and skeletal deformity [ 2 ]. Currently, the treatment for OI mainly includes preventing fractures, controlling …

  8. 02.04.2024 | Online First

    Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis

    Osteogenesis Imperfecta (OI), often referred to as brittle bone disease, encompasses a variety of connective tissue disorders primarily characterized by a lifelong predisposition to fractures [ 1 ]. Some individuals with OI may also exhibit …

  9. Open Access 29.03.2024 | Online First

    Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta

    There are no licensed treatments for children with osteogenesis imperfecta. Children currently receive off-label treatment with bisphosphonates, without any consistent approach to dose, drug or route of administration. Meta-analyses suggest that …

  10. 08.05.2024 | Online First

    Beneficial effects of romosozumab on bone mineral density and trabecular bone score assessed by dual-energy X-ray absorptiometry in a family with osteogenesis imperfecta

  11. Open Access 01.12.2024 | Erratum

    Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study

  12. Open Access 01.12.2024 | OriginalPaper

    Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta

    Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of hereditary bone disorders [ 1 ]. In OI, approximately 85-90% of autosomal dominant disorders are caused by mutations in the COL1A1 and COL1A2 genes, which encode …

  13. 22.02.2024 | OriginalPaper

    Surgical treatment of osteogenesis imperfecta: a summary of the incidence of femoral implant-related complications in children with Sillence type I, III and IV

    Osteogenesis imperfecta (OI), characterized by skeletal deformities and susceptibility to fractures from minimal trauma, is a systemic, generalized, hereditary connective tissue disorder. Varying severities of osteoporosis, deformity and fractures …

  14. Open Access 01.12.2024 | OriginalPaper

    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

    Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder with variable manifestations and numerous symptoms affecting 1–5 in 10,000 individuals [ 1 – 3 ]. Most often the condition is caused by alterations in the type 1 collagen …

  15. Open Access 01.12.2024 | OriginalPaper

    Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

    Osteogenesis Imperfecta (OI), commonly defined as ‘brittle bones’ disease, is pathogenetically based on an hereditary collagen type I synthesis disorder, most often due to an autosomal dominant mutation in COL1A1 or COL1A2 genes. In addition to …

  16. 12.03.2024 | Online First

    Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta

    Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in structure, synthesis, or post-translational processing of type I collagen. Drugs currently used to improve skeletal health in …

  17. Open Access 01.12.2024 | OriginalPaper

    The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study

    Osteogenesis imperfecta (OI) is known as brittle bone disease and is a rare, chronic, and currently noncurable disease characterized by inadequate formation of bone tissue due to a lack of collagen (mainly Col1A1 and Col1A2) or poor quality [ 1 ].

  18. Open Access 01.12.2024 | OriginalPaper

    Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study

    The term Osteogenesis Imperfecta (OI) refers to a group of inherited connective tissue disorders, a heterogeneous group of diseases characterised by varying degrees of skeletal fragility and deformity, decreased bone mass and susceptibility to …

  19. Open Access 19.01.2024 | ReviewPaper

    Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature

    Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased …

  20. 01.03.2024 | OriginalPaper

    The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents

    Osteogenesis Imperfecta (OI) is a rare hereditary bone dysplasia characterized by connective tissue congenital defects. Clinically, OI is characterized by a wide-ranging increased vulnerability to bone fragility and low bone mass [ 1 ]. The disease …

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e.Medpedia

Knochenerkrankungen bei Kindern und Jugendlichen

Pädiatrische Endokrinologie und Diabetologie
Die Entwicklung des muskuloskelettalen Systems war und ist in allen Kulturen und Epochen eng mit den Lebensgewohnheiten der Menschen verbunden. Bis zu den 1930er-Jahren stand in unseren Breiten vor allem die Mangelernährung mit Kalzium und Vitamin D bei der Entwicklung von metabolischen Knochenerkrankungen im Vordergrund. Alimentäre Kalzium- und Vitamin-D-Mangel sind heute in der westlichen Industriegesellschaft, nicht zuletzt aufgrund der ubiquitär durchgeführten Vitamin-D-Prophylaxe, eine Rarität. Heute stehen vor allem die Auswirkungen einer relativen Bewegungsarmut unserer Gesellschaft und sekundäre Effekte chronischer Erkrankungen bei der Entwicklung muskuloskelettaler Störungen im Vordergrund.

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