Veronica Albano

Learn More
BACKGROUND Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few(More)
OBJECTIVE To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. STUDY DESIGN A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical(More)
BACKGROUND A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3). OBSERVATION A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was(More)
Familial platelet disorder with propensity to acute myelogenous leukemia, or FPD/AML (OMIM #601399), is a rare autosomal dominant condition, with only 12 families reported. It is characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies. Causal mutations have been identified in the RUNX1(More)
812 serum samples from 382 males and 430 females from various age groups were examined. All the samples were tested for anti-HCV hepatitis C virus, anti-HBc and HBsAg with an enzymeimmunoassay. The total serum prevalence was 2.9% for anti-HVC, 22.2% for anti-HBc and 4.6% for HBsAg. The seropositivity rates of anti-HCV and anti-HBc tended to increase with(More)
The results of research on the spreading of campylobacter in the Pesaro-Urbino area carried out from 1985 to 1992 are presented. Materials of different origin were examined: 822 samples of human faeces, 533 animal rectal swabs, 192 samples of domestic sewage, 48 of river water, 96 of sea water and 632 of various types of food. Two hundred and nine strains(More)