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Article
Open AccessProject SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effe...
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Article
Open AccessProviding high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the “COVID-19 Helpline for Rare B...
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Article
Open AccessInsight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
Osteogenesis imperfecta or “brittle bone disease” is a congenital disorder of connective tissue causing the bone to break easily. Around 85–90% of cases are due to autosomal dominant mutations in the genes enc...
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Article
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation
Osteochondroma, the most common benign bone tumor, may occur as a sporadic lesion or as multiple neoplasms in the context of multiple osteochondromas syndrome. The most severe complication is malignant transfo...
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Article
Efficacy of combined treatments in NIDDM patients with secondary failure to sulphonylureas. Is it predictable?
The treatment of NIDDM patients with secondary failure to sulphonylurea is a common problem. We performed a crossover study in 50 NIDDM patients with secondary failure to gliben-clamide by comparing the additi...
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Article
Alveolar soft part sarcoma
We present a rare case of alveolar soft-tissue sarcoma, with extensive bone invasion. The differential diagnosis with bone metastasis and primary bone tumors is dicscussed.
