Results 1 to 10 of about 32,840 (255)

Osteogenesis imperfecta and potential therapies [PDF]

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, Klaudia Remjasz, Julia Kuchnicka, Wojciech Siedlecki, Jakub Aleksandrowicz, Bartłomiej Wójcik, Karolina Zadrożna   +6 more
doaj   +3 more sources

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults [PDF]

BMC Public Health
Background The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society.
Taco van Welzenis, Ingunn Westerheim, Tracy Hart, Lena Lande Wekre, Oliver Semler, Frank Rauch, Laetitia Dewavrin, Ruby Dadzie, Samantha Prince, Cathleen Raggio   +9 more
doaj   +2 more sources

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta [PDF]

BMC Medical Genetics, 2011
Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas   +3 more
doaj   +6 more sources

Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I [PDF]

Patient Safety in Surgery, 2008
Osteogenesis imperfecta is a genetic disorder characterized by increased susceptibility to fractures and vascular injuries due to connective tissue fragility.
Morgan Steven J, Johnson Jeffrey L, Ziran Navid M, Smith Wade R   +3 more
doaj   +4 more sources

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

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, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince, Oliver Semler   +12 more
doaj   +1 more source

“Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with…”—Results of a Patient and Parent-Oriented Survey

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, Laura Tosi, Erika Carter, Tracy Hart, Jeanne Franzone, Maegen Wallace   +5 more
doaj   +1 more source

Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss

Frontiers in Cell and Developmental Biology, 2021
Osteogenesis imperfecta is a genetic disorder disrupting bone development and remodeling. The primary causes of osteogenesis imperfecta are pathogenic variants of collagen and collagen processing genes.
Christopher L. Schwebach, Elena Kudryashova, Dmitri S. Kudryashov   +2 more
doaj   +1 more source

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams

Acta Orthopaedica, 2021
Background and purpose — Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient’s viewpoint and better comparability of outcomes.
Ralph J Sakkers, Kathleen Montpetit, Argerie Tsimicalis, Thomas Wirth, Marjolein Verhoef, Reginald Hamdy, Jean A Ouellet, Rene M Castelein, Chantal Damas, Guus J Janus, Wouter H Nijhuis, Leonardo Panzeri, Simona Paveri, Dagmar Mekking, Kelly Thorstad, Richard W Kruse   +15 more
doaj   +1 more source

Fatigue in adults with Osteogenesis Imperfecta

BMC Musculoskeletal Disorders, 2020
Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present.
Arjan G. J. Harsevoort, Koert Gooijer, Fleur S. van Dijk, Daniëlle A. F. M. van der Grijn, Anton A. M. Franken, Anne Marieke V. Dommisse, Guus J. M. Janus   +6 more
doaj   +1 more source

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Orphanet Journal of Rare Diseases, 2021
Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics.
Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann   +9 more
doaj   +1 more source