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A Qualitative Approach to Quality of Life in Fibrous Bone Dysplasia /McCune Albright Syndrome: Looking Beyond Quantitative Analysis.
Calcif Tissue Int
January 2025
Rheumatology department, Hôpital E. Herriot, Lyon, France.
This study explores FD/MAS patient's perceptions about their disease and its impact on their quality of life. We have evaluated quality of life (QoL) in French Fibrous Dysplasia/MacCune-Albright Syndrome (FD/MAS) patients using a qualitative approach with focus groups to explore perceptions, symptoms and limitations associated with FD/MAS and a quantitative method with the Short Form-36 (SF36) to quantify QoL. Focus groups revealed the heterogeneity of FD forms and allowed for understanding the reasons of reduced QoL.
View Article and Find Full Text PDFCraniofacial fibrous dysplasia: A review of current literature.
Bone
December 2024
Department of Otorhinolaryngology - Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, POBox 263, FI-00029 HUS Helsinki, Finland. Electronic address:
Article Synopsis
- *The systematic literature review from 2010-2023 revealed that management strategies for CFD must be personalized, with asymptomatic patients monitored and those with symptoms possibly needing medical or surgical intervention.
- *The review emphasizes the importance of a multidisciplinary approach to CFD treatment, as well as the need for ongoing monitoring due to potential complications and the risk of malignant transformation.
Fibrous Dysplasia of Parietal Bone: A Case Report and Review of Literature.
Cureus
November 2024
Department of Internal Medicine, Prince Mohammed Bin Abdulaziz Hospital, Medina, SAU.
Fibrous dysplasia (FD) is a rare, benign, and slowly progressive bone disorder that affects one or more bones, where the normal bone is replaced by atypical fibrous connective tissue, making the bone weak, fragile, and more susceptible to fracture. FD can affect a single bone (monostotic FD) or multiple bones (polyostotic FD). The clinical manifestations and progression of FD vary from one individual to the other.
View Article and Find Full Text PDFMonostotic fibrous dysplasia of the lumbar spine in a young patient treated with minimally invasive surgery: A case report.
Asian J Surg
November 2024
Department of Basic medicine, Gannan Healthcare Vocational College, Ganzhou, China. Electronic address:
Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Clin Genet
November 2024
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- - Mulibrey nanism (MUL) is a genetic growth disorder linked to mutations in the TRIM37 gene, leading to growth failure, distinct facial features, heart issues, infertility, and higher cancer risk.
- - A study of 33 MUL patients, aged 4.5-48 years, assessed their long bones and spine through radiographs, revealing significant skeletal abnormalities such as slender and bowed long bones, thick cortices, and tall vertebral bodies.
- - The study confirmed that all patients had skeletal changes, with 58% showing fibrous dysplasia and 52% having a history of fractures, highlighting TRIM37's critical role in skeletal development and maintenance.
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