Publications by authors named "M Gnoli"
Article Synopsis
- - Multiple epiphyseal dysplasia (MED) is a group of genetic skeletal disorders causing epiphyseal abnormalities and mild short stature, often starting in childhood with joint pain and stiffness leading to degenerative issues.
- - The most common form, caused by mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene, typically affects the hips and can include osteochondritis dissecans (OCD) as a complication.
- - A case study of a 24-year-old man with COMP-MED reveals multiple OCD occurrences, highlighting the potential for this condition to appear in related forms of MED, expanding its recognized clinical features.
Article Synopsis
- * The study reports a new type of genetic mutation, specifically a large in-tandem duplication involving exon 4 of the exostosin-1 gene, found in a family with a history of MO.
- * This finding highlights the need for advanced genetic testing methods, like MLPA and qPCR, as they can reveal pathogenic variants that standard sequencing might miss.
Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included.
Background: Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature.
View Article and Find Full Text PDFIntroduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice.
Methods: A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study.
Results: Skeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.