Early forms of Osteogenesis Imperfecta should be considered as main etiology of bone deformities in newborns. Prenatal diagnosis and genetic counseling should be improved in Africa. Management of these children remains difficult in low-income countries.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813006 | PMC |
| http://dx.doi.org/10.1002/ccr3.3572 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Risk 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.
View Article and Find Full Text PDFCorneal Alterations in Patients with Osteogenesis Imperfecta: An in vivo Corneal Confocal Microscopy Study.
Clin Ophthalmol
December 2024
Department of Sense Organs, Sapienza University, Rome, Italy.
Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disorder of the connective tissue. Despite recent attention to corneal abnormalities in OI, understanding remains limited. This study aimed to comprehensively evaluate corneal changes in a large sample of OI patients compared to controls using in vivo confocal microscopy (IVCM).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!