The purpose of this study was to quantify the physical and mental health of a diverse adult cohort of patients with osteogenesis imperfecta (OI) utilizing a validated health self-assessment questionnaire (SF-36). In addition, a specific demographic questionnaire and a functional questionnaire were utilized to assess more specifically the physical limitations imposed by osteogenesis imperfecta in adulthood. The results of the SF-36 revealed significantly lower physical function scores compared to the U.S. adult norms. However, the SF-36 mental component scores were equal to the U.S. adult norms. The demographic questionnaire revealed high levels of educational achievement, as well as employment, despite significant physical impairments. The functional questionnaire clearly demonstrated limitations mostly related to ambulation.
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http://dx.doi.org/10.1007/s002640100292 | DOI Listing |
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 PDFBiomedicines
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 PDFInterv 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.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Endocrinology, Odense University Hospital, Odense, Denmark.
Osteogenesis imperfecta (OI) is a group of rare genetic disorders most commonly caused by reduced amount of biologically normal collagen type I, a structural component of the gastrointestinal tract and abdominal wall. The risk of gastrointestinal (GI) disease in individuals with OI is not well understood, despite GI complaints being frequently reported by the OI population. To investigate the risk of GI diseases in individuals with OI.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Osteogenesis imperfecta (OI) is an inheritable skeletal disorder characterized by bone fragility often caused by pathogenic variants in the COL1A1 gene. Current OI mouse models with a glycine substitution in Col1a1 exhibit excessive severity, thereby limiting long-term pathophysiological analysis and drug effect assessments. To address this limitation, we constructed a novel OI mouse model mimicking a patient with OI type III.
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