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Special Collection on Rare Musculoskeletal Diseases 2024.
JBMR Plus
February 2025
Department of Pediatric Orthopedic Surgery, Phoenix Children's Hospital, Phoenix, AZ 85016, United States.
Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the Gene.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», 188300 Gatchina, Russia.
Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.
View Article and Find Full Text PDFCraniofacial Effects of Zoledronic Acid on the Osteogenesis Imperfecta Mouse (-/-) Model of Severe Osteogenesis Imperfecta.
Biomedicines
November 2024
Pole of Morphology, Institute of Experimental and Clinical Research, UCLouvain, 1200 Brussels, Belgium.
Osteogenesis imperfecta (OI) is a rare genetic disorder affecting mainly type I collagen, which leads to bone fragility and deformities. OI patients also present craniofacial abnormalities such as macrocephaly and malocclusion. Recently, craniofacial dysmorphism was highlighted in the osteogenesis imperfecta mouse (oim), a validated model of the most severe form of OI.
View Article and Find Full Text PDFTranscatheter Mitral Valve Repair in a Patient with Osteogenesis Imperfecta: A Case Report and Literature Review.
Interv Cardiol
November 2024
Department of Cardiology, Heart, Vascular and Thoracic Institute, Cleveland Clinic Abu Dhabi Abu Dhabi, United Arab Emirates.
With the emergence of less invasive transcatheter valvular therapies, there remains a limited understanding of the feasibility and durability of these approaches in patients with osteogenesis imperfecta and whether they can offer a suitable alternative to conventional surgery. In this context, and with a focus on mitral repair, we report on a case of mitral transcatheter edge-to-edge repair in a patient with osteogenesis imperfecta and conduct a comprehensive review of the characteristics and outcomes of reported osteogenesis imperfecta cases undergoing surgical or transcatheter mitral repair. Given the high burden of complications of surgery in this population, transcatheter mitral repair could potentially serve as a suitable alternative to conventional surgery in this challenging population.
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