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3014 Suchergebnisse für:

Osteogenesis imperfecta 

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  1. 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 …

  2. 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 …

  3. 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 …

  4. 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 …

  5. 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 …

  6. 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

  7. 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 …

  8. 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 …

  9. 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 …

  10. 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 …

  11. 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 ].

  12. 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 …

  13. 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 …

  14. 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 …

  15. 28.01.2024 | Online First

    Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study

    Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional outcomes of OI …

  16. 22.02.2024 | Online First

    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 …

  17. Open Access 26.09.2023 | ReviewPaper

    Early Life Management of Osteogenesis Imperfecta

    Osteogenesis imperfecta (OI) is a disease characterised by bone fragility, with a spectrum of disease in infancy ranging from those with so called “mild”, type 1 disease in whom there may be no obvious or unequivocal clinical features of disease …

  18. 01.12.2023 | OriginalPaper

    Access to care among patients with osteogenesis imperfecta during the COVID-19 pandemic

    Osteogenesis imperfecta (OI) is a rare genetic condition characterized by increased bone fragility, low bone mass, and risk for fracture and skeletal deformities [ 1 ]. The majority of OI cases are caused by autosomal dominant mutations in genes …

  19. Open Access 04.06.2023 | OriginalPaper

    Genotype–phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta

    Osteogenesis imperfecta (OI) is a phenotypically and genotypically heterogeneous connective tissue disorder, with an incidence of one in 15 000–20 000 births [ 1 ]. OI is a fairly common genetic bone disorder characterized by low bone mineral …

  20. Open Access 25.09.2020 | Pseudohypoparathyreoidismus | ReviewPaper

    Therapie mit Wachstumshormon bei Osteogenesis imperfecta & Co.?

    Bei seltenen Knochenerkrankungen – wie Osteogenesis imperfecta, Phosphatdiabetes oder SHOX-Mangel – muss jede Wachstumsstörung individuell betrachtet werden. In welchen Fällen macht eine Therapie mit Wachstumshormon (GH) Sinn? Wo liegen die Möglichkeiten, wo die Grenzen der GH-Behandlung? Ein Blick auf die aktuelle Evidenz.

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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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