Results 11 to 20 of about 12,737 (160)

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

Surgical Treatment of a Bilateral Mandibular Fracture in a Patient with Osteogenesis Imperfecta Type III

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Osteogenesis imperfecta is a group of genetic disorders affecting skeletal and connective tissue that commonly presents with a history of multiple fractures.
Mac Kenzie J. Reece, DO, MS, Kyle Quillin, DO, Tyler Jay Homewood, DO, Jared Bunevich, DO, Ms. Ed   +3 more
doaj   +1 more source

Osteogenesis imperfecta [PDF]

The Lancet, 2016
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years ...
FORLINO, ANTONELLA, Marini, Joan C.
openaire   +3 more sources

Translational Research in Osteogenesis Imperfecta and Cell Therapy

Proceedings, 2021
On 6 and 7 of February 2019, Center for Stem cell Research (CSCR) and Pediatric orthopedic Unit at Christian Medical College (CMC), Vellore, conducted a meet on Translational Research in Osteogenesis Imperfecta and Cell Therapy.
Vrisha Madhuri, Sowmya Ramesh, Renita Raymond, Agnes Selina, Lakshmi Loganathan   +4 more
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis

BMC Musculoskeletal Disorders, 2022
Background Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking.
Sophie Barlow, Lucy Dove, Anju Jaggi, Richard Keen, Judith Bubbear   +4 more
doaj   +1 more source

Infraclavicular block and anesthesia management in two cases with Osteogenesis Imperfecta

Van Tıp Dergisi, 2017
Osteogenesis imperfecta, is a rare autosomal hereditary connective tissue disease. In these cases, extremely fragile bones, other organ and body system disorders are prominent.
Cahide Kahraman, Abdullah Kahraman
doaj   +1 more source

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Orphanet Journal of Rare Diseases
Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported.
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken   +5 more
doaj   +1 more source

Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases

Orphanet Journal of Rare Diseases
Adults with childhood-onset rare disease face many challenges when transitioning from pediatric services to adult care. While they often received specialized pediatric care, the adult healthcare system provides few resources for those whose rare disease ...
Laura L. Tosi, Tracy S. Hart, Gabriela Beug, Erika Carter, Eleanor M. Perfetto   +4 more
doaj   +1 more source

Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review

Journal of International Medical Research, 2022
The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients.
Pavel Sponer, Martin Korbel, Tomas Kucera   +2 more
doaj   +1 more source