Results 11 to 20 of about 67,445 (255)
Collagen transport and related pathways in Osteogenesis Imperfecta
Human Genetics, 2021 Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity.
Lauria Claeys +8 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features.
Maria Rapoport +12 more
doaj +1 more source
Osteogenesis Imperfecta: Current and Prospective Therapies
Biomolecules, 2021 Osteogenesis Imperfecta (OI) is a group of connective tissue disorders with a broad range of phenotypes characterized primarily by bone fragility. The prevalence of OI ranges from about 1:15,000 to 1:20,000 births.
M. Botor +6 more
semanticscholar +1 more source
Children, 2023 Osteogenesis Imperfecta (OI) is a rare genetic disorder in Type I collagen characterized by bone fractures, fragility, and deformity. Current treatments are focused on decreasing fracture rates, improving bone strength, and improving overall global ...
Jill Flanagan +5 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2017 Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts.
Justin Easow Sam, Mala Dharmalingam
openaire +6 more sources
Jornal de Pediatria, 2021 Objective: To describe postural balance, handgrip strength and mobility in children and adolescents with different types of osteogenesis imperfecta. Methods: Cross-sectional study.
Giovana Coêlho +3 more
doaj +1 more source
Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis
International Journal of Molecular Sciences, 2021 Bone material strength is determined by several factors, such as bone mass, matrix composition, mineralization, architecture and shape. From a clinical perspective, bone fragility is classified as primary (i.e., genetic and rare) or secondary (i.e ...
A. El-Gazzar, W. Högler
semanticscholar +1 more source
Der Orthopäde, 2012 The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so ...
Morello, Roy, Esposito, Paul W.
openaire +5 more sources
Osteogenesis imperfecta and potential therapies
Journal of Education, Health and Sport, 2022 Background: Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue. In this article we reviewed epidemiology, types of OI, pathophysiology, symptoms and potential therapies.
Mateusz Fabis +6 more
doaj +1 more source
Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review
Annals medicus, 2021 Introduction Respiratory failure is a major cause of death in patients with Osteogenesis Imperfecta. Moreover, respiratory symptoms seem to have a dramatic impact on their quality of life.
S. Storoni +6 more
semanticscholar +1 more source