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Article
Aneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis
Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with fluid–fluid levels on MRI,...
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Article
Open AccessHealth-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study
To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
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Article
Open AccessSecondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series
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 ...
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Article
Open AccessCost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study
Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases. In addition, few studies address the issue of finding variables tha...
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Article
Open AccessSecondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
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 chondr...
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Article
Open AccessLaniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service
Improving the availability and usability of data and analytical tools is a critical precondition for further advancing modern biological and biomedical research. For instance, one of the many ramifications of ...
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Article
Histological and molecular features of solitary fibrous tumor of the extremities: clinical correlation
Solitary fibrous tumor is a rare mesenchymal neoplasm that exhibits a broad spectrum of biological behaviors. Few studies relative to clinical-pathologic features and predictive factors have been reported, all...
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Article
Open AccessMelorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understo...
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Article
Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare genetic cancer predisposition disease, partly determined by the presence of a TP53 germline mutation; lacking thereof, in presence of a typical LFS phenotype, defines a wide g...
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Article
Open AccessHereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostos...
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Article
Open AccessSkeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Osteochondromas as example/paradigm