Results 1 to 10 of about 12,691 (160)

Osteogenesis imperfecta

Nature Reviews Disease Primers, 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.
Joan C Marini, Antonella Forlino, Hans Peter Bachinger   +2 more
exaly   +10 more sources

Osteogenesis imperfecta

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2006
Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental ...
Gupte Tejashri, Iyer V, Damle S, Malik N, Halbe A   +4 more
doaj   +2 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

Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta

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, Lívia Cocato Luiz, Luiz Claudio Castro, Ana C. de David   +3 more
doaj   +1 more source

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, Klaudia Remjasz, Julia Kuchnicka, Wojciech Siedlecki, Jakub Aleksandrowicz, Bartłomiej Wójcik, Karolina Zadrożna   +6 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

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

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

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Bone Reports, 2018
An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI.
Luuk J.J. Scheres, Fleur S. van Dijk, Arjan J. Harsevoort, Atty T.H. van Dijk, Anne Marieke Dommisse, Guus J.M. Janus, Anton A.M. Franken   +6 more
doaj   +1 more source