Perceived challenges and attitudes to regimen and product selection from Italian haemophilia treaters: the 2013 AICE survey.

Despite great advances in haemophilia care in the last 20 years, a number of questions on haemophilia therapy remain unanswered. These debated issues primarily involve the choice of the product type (plasma-derived vs. recombinant) for patients with different characteristics: specifically, if they were infected by blood-borne virus infections, and if they bear high or low risk of inhibitor development.

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.

Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal dominant disorder caused by mutations in SERPING1 gene. More than 200 different mutations are known, with high genetic heterogeneity and high frequency of private familial mutations. We analyzed for genetic mutations the C1-INH locus in 11 Sardinian families, revealing in seven subjects from four unrelated families the novel nonsense mutation S318X.

Prophylaxis of venous thromboembolism in bariatric surgery.

Patients with morbid obesity who undergo bariatric surgery are usually considered at high risk of developing venous thromboembolism. Considering that deep vein thrombosis is often asymptomatic, primary prevention is the key to reducing morbidity and mortality. Between 1995 and 2003, 151 patients underwent surgery for morbid obesity at the Obesity Surgery Centre-University of Sassari.