Results 31 to 40 of about 67,445 (255)
Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach
Clinics in Orthopedic Surgery, 2020 Osteogenesis imperfecta (OI) is characterized by recurring fractures and limb and spine deformities. With the advent of medical therapeutics and the discovery of causative genes, as well as the introduction of a newly devised intramedullary rod, the ...
T. Cho +5 more
semanticscholar +1 more source
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 +4 more
doaj +1 more source
The evolution of the nosology of osteogenesis imperfecta
Clinical Genetics, 2020 Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of
Chetty Manogari +2 more
semanticscholar +1 more source
Osteogenesis imperfecta: advancements in genetics and treatment.
Current opinion in pediatrics, 2019 PURPOSE OF REVIEW The purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for this disorder.
V. Rossi, Brendan H. Lee, Ronit Marom
semanticscholar +2 more sources
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 +1 more
doaj +1 more source
Update on the Genetics of Osteogenesis Imperfecta
Calcified Tissue InternationalOsteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects.
Milena Jovanovic, J. C. Marini
semanticscholar +1 more source
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
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
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 +2 more
doaj +1 more source
Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research
JBMR Plus, 2019 Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or COL1A2.
J. Tauer, M. Robinson, F. Rauch
semanticscholar +1 more source