Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide María Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi,
Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare results with already published data in order to determine prognostic factors for overall and disease-free survival.The case study includes retrospective data from patients diagnosed at a single institution from 1943 to 2019. Clinical data were collected reviewing all available ...
Tópico(s): Musculoskeletal synovial abnormalities and treatments
2022 - BioMed Central | Orphanet Journal of Rare Diseases
Silvia Gazzotti, R. Sassi, Maria Pilar Aparisi Gómez, A. Moroni, Evelise Brizola, Marco Miceli, Alberto Bazzocchi,
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. ...
Tópico(s): Bone health and osteoporosis research
2024 - Elsevier BV | European Journal of Medical Genetics
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric L. Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi,
Abstract 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 ...
Tópico(s): Musculoskeletal synovial abnormalities and treatments
2024 - BioMed Central | Orphanet Journal of Rare Diseases
A. Moroni, Evelise Brizola, Alessia Di Cecco, Morena Tremosini, M. Sergiampietri, Alberto Bianchi, Barbara Tappino, Maria Piana, Maria Gnoli,
Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibular angle, micrognathia). Dental abnormalities (delayed eruption of teeth, hypodontia, malocclusion, dental crowding, persistence of deciduous teeth, enamel hypoplasia, and increased caries) are also frequent; due to bone metabolism alteration, the patients have an ...
Tópico(s): Bone health and treatments
2023 - Elsevier BV | European Journal of Medical Genetics
Claiton Márcio da Silva, Carla Rigo,
... de Getúlio Vargas (pós-Estado Novo) ou de Alberto Pasqualini forneceu a linha do partido, ao final daquela década, uma nova geração de jovens na região Oeste de Santa Catarina adentrou na vida política tendo Brizola – e seus “admiráveis discursos”, que alcançavam a região ...
Tópico(s): Urban Development and Societal Issues
2019 - Centro de Organização da Memória Sócio-Cultural do Oeste de Santa Catarina | Revista Cadernos do Ceom