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Transcatheter 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.
View Article and Find Full Text PDFRisk of Gastrointestinal Diseases in Osteogenesis Imperfecta: A Nationwide, Register-Based Cohort Study.
Calcif 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 PDFCharacterization of a Novel Col1a1 Osteogenesis Imperfecta Mouse Model with Insights into Skeletal Phenotype, Fragility, and Therapeutic Evaluations.
Calcif 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.
View Article and Find Full Text PDFAlendronate partially rescues the periodontal defects in OIM mouse model of osteogenesis imperfecta.
Sci Rep
January 2025
Department of Growth and Development, University of Nebraska Medical Center, 4000 East Campus Loop South, 68583-0740, Lincoln, NE, US.
Osteogenesis imperfecta (OI) is a fairly common generalized connective disorder characterized by low bone mass, bone deformities and impaired bone quality that predisposes affected individuals to musculoskeletal fragility. Periodontal ligament (PDL)-alveolar bone and PDL-cementum entheses' roles under OI conditions during physiological loading and orthodontic forces remain largely unknown. In addition, bisphosphonates (e.
View Article and Find Full Text PDFExploring cultural imaginaries of robots with children with brittle bone disease: a participatory design study.
Med Humanit
January 2025
School of Computer Science, The University of Sheffield, Sheffield, UK
A symbiotic relationship exists between narrative imaginaries of and real-life advancements in technology. Such cultural imaginings have a powerful influence on our understanding of the potential that technology has to affect our lives; as a result, narrative-based approaches to (PD) of technology are an active area of investigation.In this ongoing study, the following research questions are addressed: how can PD be optimised for the fields of robotics and assistive technology, particularly with regard to fostering empowerment and eliciting how people imagine the role of technology in their own futures? How can the symbiotic relationship between (popular) cultural imaginaries and real-life technological advancements be acknowledged within the PD process?The study synthesises fictional inquiry and science fiction prototyping methodologies and processes over multiple workshops.
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