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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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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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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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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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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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Open AccessPatients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participati...
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Disease Registry: A Tool for European Cross-Border Medicine
Europe is working actively to increase healthcare and cooperation, providing directives on cross-border medicine and stimulating the creation of European Reference Network (ERNs) for a coordinated sharing of e...
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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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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
