Biomedical subjects

D Caprino

Publications and source records attributed to D Caprino.

21 records · Page 2Linked to original sources

PubMedDate not supplied

Platelet glycoprotein Ib polymorphism in the Italian population.

The glycoprotein Ib (GP Ib) is the major sialoglycoprotein on the platelet membrane and plays an important role in primary hemostasis. It was demonstrated that GP Ib is polymorphic: four different species of GP Ib (designated A, B, C and D) were observed, having molecular weights of 168, 162, 159 and 153 kiloDaltons, respectively. The polymorphism was first studied in the Japanese population and, subsequently, in Americans; a significant difference between the phenotype frequencies in the two populations was found. The authors report about GP Ib polymorphism patterns in the Italian population. GP Ib from normal subjects was analyzed by means of platelet protein SDS-PAGE followed by Western blotting; GP Ib species immobilized onto nitrocellulose filters were coupled with wheat germ agglutinin and stained using immunoperoxidase. Despite some differences in phenotype distribution, statistical analysis did not show differences between Italian and U.S. Caucasian phenotype frequencies: this is attributable to rather similar gene frequencies in the two populations. In our platelet samples we only observed three GP Ib types, precisely the B, C and D types; therefore we can confirm the rarity of the A type in Caucasians, while it was well represented in the Japanese population.

Alleles↗

PubMedDate not supplied

New clinical aspects of Pearson's syndrome. Report of three cases.

We describe 3 patients affected by Pearson's syndrome, presenting anemia, exocrine pancreas failure, and skeletal abnormalities; insulin-dependent diabetes mellitus arose in two cases during the course of the disease. Bone marrow dysplasia and exocrine pancreas failure are also reported in Shwachman's syndrome; the two forms differ in bone marrow morphology. The clinical pattern of Pearson's syndrome can be so polymorphic as to increase the difficulties of differential diagnosis with Shwachman's syndrome.

Bone Marrow↗

PubMedDate not supplied

Inversion mutation as a major cause of severe hemophilia A in Italian patients.

We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients. The genomic DNA of 146 unrelated Italian patients with severe hemophilia A (HA) was hybridized with an F8A gene probe to detect the abnormal band patterns. A recombinant event was found in 71/146 patients, confirming the high incidence of this mutation in the Italian hemophilic population also. We conclude that the high frequency of the mutation in HA subjects allows us to make a direct and safe diagnosis in about 50% of our families without resorting to RFLP analysis.

Adult↗