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Biomedical subjects

B Rotoli

Publications and source records attributed to B Rotoli.

At least 37 records · Page 2Linked to original sources
PubMed1983

Familial erythrocytosis with over-production of erythropoietin.

A family is described in which the father and son had erythrocytosis associated with a normal Hb oxygen affinity. Growth of erythroid colonies in vitro (BFU-E) exhibited normal erythropoietin dependence. In the son there was an enlarged erythroid precursor compartment, while the father (who had been treated by busulphan) showed marked reduction of circulating BFU-Es. Serum erythropoietin (Epo), estimated by radio-immunoassay, was 96 miu/ml in the son and 360 miu/ml in the father (normal 25, SD 6, n = 46). We conclude that erythrocytosis in this family is due to a genetically determined hyper-production of Epo. The finding in the father of a high Hb level associated with increased Epo and decreased BFU-Es might support the hypothesis that red cell mass is regulated by Epo at the level of bone marrow CFU-Es rather than BFU-Es.

Adult↗
PubMed1983

Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors.

A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to be best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.

Adolescent↗
PubMed1982

Decreased number of circulating BFU-Es in paroxysmal nocturnal hemoglobinuria.

In order to quantitate early erythroid progenitor cells in paroxysmal nocturnal hemoglobinuria (PNH), we have cultured peripheral blood mononuclear cells from 7 PNH patients in a 0.8% methylcellulose medium containing erythropoietin, 2 U/ml. In our experimental conditions, the number of erythroid colonies obtained per 5 X 10(5) mononuclear cells plated was 20.1 +/- 1.9 (SEM) in normal subjects and 2.8 +/- 0.56 (SEM) in PNH patients. In plates from PNH subjects, 38 of 117 showed no growth of erythroid colonies, whereas plates from normal subjects always had colonies. Our findings suggest that PNH patients, despite their hemolytic condition, have a depleted erythroid precursor compartment, and this may play a major role in the pathogenesis of their anemia.

Adult↗
PubMed1976

Thalassemia in Italy: treatment of Cooley disease and iron kinetics in heterozygotes.

Because of its high prevalence in Italy, thalassemia is officially considered a disease of major social importance. Several centers have been established for the specific purpose of population screening and treatment of patients with Cooley disease. Survival, in some cases up to 20 years, has been reached by the therapeutic methods adopted, consisting mainly of an intensive transfusion program combined with splenectomy. We now face serious logistic, social, and financial problems, raised by the increasing number of patients living, estimated at around 12,000. The iron overload is not adequately controlled by the routine use of desferrioxamine. Studies of iron kinetics in heterozygotes demonstrate specific alteration of iron metabolism (not related to the exogenous transfusion-induced overload). Therefore, treatment with iron-chelating agents might be indicated in at least some of these subjects.

Adolescent↗