Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s41415-025-8965-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Fractures are Highly Correlated with Bone Density and Inversely Correlated with Bone Turnover Markers in Autosomal Dominant Osteopetrosis.
J Bone Miner Res
September 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.
Autosomal Dominant Osteopetrosis (ADO) is a rare, osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, resulting in impaired osteoclastic bone resorption. Penetrance is incomplete and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture.
View Article and Find Full Text PDFQualitative investigation of school experiences in children with osteogenesis imperfecta.
Child Health Care
September 2024
Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, Texas.
Osteogenesis imperfecta (OI) is a rare genetic chronic condition leading to fragile bones and frequent bone fractures with wide-reaching health implications. Current literature suggests that children with chronic diseases face unique challenges at school, yet research regarding educational concerns among those with OI is limited. The present study involved qualitative analysis of semi-structured interviews with 10 children with OI and 12 caregivers of a child with OI.
View Article and Find Full Text PDFBasilar invagination in osteogenesis imperfecta-Case report.
Radiol Case Rep
October 2025
Department of Radiology, Faculty of Medicine, Universitas Padjadjaran, West Java, Indonesia.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by defective type I collagen synthesis, leading to fragile bones and skeletal deformities. One of the serious complications of OI involves abnormalities of the craniovertebral junction, including basilar invagination, basilar impression, and platybasia, which can cause skull base deformities and brainstem compression. We report a case of a 19-year-old patient with OI presenting with headaches, neurological deficits, and visual impairment, whose contrast-enhanced head CT scan revealed basilar invagination, fusion of midbrain colliculi, tonsillar herniation into the foramen magnum, and communicating hydrocephalus.
View Article and Find Full Text PDFCranial bypass for occlusive carotid dissection in osteogenesis imperfecta: illustrative case.
J Neurosurg Case Lessons
August 2025
Department of Neurosurgery, NYU Grossman School of Medicine, New York, New York.
Background: Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by fragile bones and vascular fragility, increasing the risk of vessel dissection and potentially complicating endovascular intervention. The authors present the first case of cranial bypass in a patient with OI.
Observations: A 38-year-old male with OI type I presented with a symptomatic left internal carotid artery (ICA) occlusive dissection managed with endovascular revascularization and stenting.
Quantitative Computed Tomography-Based Analysis of Bone Structure in the Surgical Neck of the Humerus during Aging in Men.
Calcif Tissue Int
August 2025
Department of Orthopedics, Tianjin Hospital, Tianjin University, Tianjin, China.
The changes in bone mineral density (BMD), bone structure, and bone size at the proximal humerus with aging, which can lead to fragile fractures in men, are not well understood. This study aimed to investigate age-related changes in the skeletal properties of the surgical neck of the humerus in men. We conducted a cross-sectional cohort study involving 193 Chinese men, divided into three age groups: Group I (20-50 years), Group II (51-64 years), and Group III (≥ 65 years).
View Article and Find Full Text PDF