A5035577742- Blood Coagulation and Thrombosis Mechanisms
- Hemophilia Treatment and Research
- Sarcoma Diagnosis and Treatment
- Neurofibromatosis and Schwannoma Cases
- Platelet Disorders and Treatments
- Cancer-related gene regulation
- Soft tissue tumors and treatment
University of Parma
2017-2024
Background: Extended half-life (EHL) factor IX (FIX) concentrates allow for prophylaxis with prolonged dosing intervals and high bleeding protection in persons hemophilia B. Long-term real-world studies are lacking. Methods: In a retrospective-prospective study, the six-year use of EHL recombinant FIX-albumin fusion protein (rIX-FP) was analyzed, comparing outcomes previous standard (SHL) FIX patients already on prophylaxis. Results: Prophylaxis rIX-FP prescribed 15 (10 severe, 5 moderate;...
Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by high mutation rate (about 50% of cases are de novo) but, with exception whole gene deletions associated more severe phenotype, no specific hotspots and few solid genotype/phenotype correlations. After retrospectively re-evaluating all variants found diagnostic activity, we studied 108 patients affected neurofibromatosis I who harbored that had not been previously reported international...
Haemophilias are X-linked inherited bleeding disorders, due to de novo F8/F9 gene variants in 30-50% of cases. The identification causative variant index cases (IC) is crucial for genetic counselling related women. Over the last 20 years Emilia-Romagna Regional Haemophilia Registry documented high proportions sporadic severe haemophilia.To clarify if carriers' reproductive choices influence sporadic/familial ratio haemophilia.Genetic and genotyping 221 relatives IC were retrospectively...