A5071198676- Hemophilia Treatment and Research
- Blood Coagulation and Thrombosis Mechanisms
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Platelet Disorders and Treatments
- Eosinophilic Disorders and Syndromes
- Cancer-related gene regulation
- COVID-19 Clinical Research Studies
- Hemoglobinopathies and Related Disorders
- Pneumocystis jirovecii pneumonia detection and treatment
- PI3K/AKT/mTOR signaling in cancer
- Protein Tyrosine Phosphatases
- Cardiovascular Effects of Exercise
- Muscle and Compartmental Disorders
- Cardiovascular Function and Risk Factors
- Orthopaedic implants and arthroplasty
- Chronic Myeloid Leukemia Treatments
- Cardiovascular and exercise physiology
- Venous Thromboembolism Diagnosis and Management
- Genetic factors in colorectal cancer
- Hemostasis and retained surgical items
- RNA modifications and cancer
- Blood properties and coagulation
- Chromosomal and Genetic Variations
- Cerebral Venous Sinus Thrombosis
- Genomic variations and chromosomal abnormalities
University of Parma
2016-2024
Center for Inherited Blood Disorders
2015
Federico II University Hospital
2014
Introduction Persons with haemophilia ( PWH ) experience recurrent joint bleeding which leads from early synovitis to irreversible damage. Pain strongly affects patients’ quality of life, as suffer acute pain associated haemarthroses and chronic due arthritic degenerative complications. Aim To investigate issues among their treaters in Italy. Methods specialist physicians responded a survey focused on characteristics, assessment, management by phone call online, respectively. Results One...
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity poor correlation FVII:C levels has been described. It was the objective of this study to identify genetic defects and evaluate their relationships phenotype large cohort patients FVII:C<50 %. One hundred twenty-three probands were genotyped for three polymorphic variants classified according recently published scores. Forty out 123...
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;...
The prevalence of thrombophilic abnormalities in patients with cerebral vein thrombosis has been reported to be similar that deep the lower limb. role gender-specific risk factors (pregnancy, oral contraceptives) is well established, whereas other acquired conditions debated.We screened 56 and 184 age- sex-matched apparently healthy controls for prothrombin (factor II, FII) G20210A factor V Leiden polymorphisms; protein S, C, antithrombin deficiency; anticardiolipin antibodies;...
Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this study, we describe consequences concurrent presence interstitial deletion 13q34 and a terminal 4q35.2 Italian family. The index patient, 19-year-old male, as well his...
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...