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Biomedical subjects

E Cacciola

Publications and source records attributed to E Cacciola.

At least 37 records · Page 2Linked to original sources
PubMed1990

[Dyserythropoietic syndromes: incidence, diagnosis, therapy].

The nosography of the dyserythropoietic syndromes remains poorly defined in the field of clinical hematology. The prominent pathophysiologic feature lies in the "ineffective erythropoiesis" as expressed by bone marrow erythroid hyperplasia with dysplasia accompanied by a normal or only slightly increased reticulocyte count. Both erythrokinetics and ferrokinetics are impaired, as shown by either slight reduction of the red cell survival or marked increased rate of serum iron transport together with reduced cellular iron utilization. The dyserythropoietic syndromes can be classified as acquired, secondary or congenital. The acquired ones, especially the sideroblastic forms, belonging to the myelodysplastic syndromes, are typical of the elderly whereas the congenital are of childhood. Their treatment is still a matter of controversy. However, the employment of folic acid, Vit. B12, pyridoxine and androgens can be useful in selected cases. In case of severe anemia, blood transfusion are required in association with iron chelating agents. However, some biological molecules, such as erythropoietin, interleukins 3 and 4, hemopoietic growth factors (especially GM-CSF), could represent future prospects of treatment.

Anemia, Dyserythropoietic, Congenital↗
PubMed1986

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily.

There is a large variation of clinical severity among thalassemic patients in Sicily. A heterogeneous molecular basis has already been demonstrated among the patients presenting with thalassemia intermedia. The same approach, based mostly on linked haplotypes of the beta gene cluster polymorphisms and in some cases on the demonstration of the molecular defect itself, was used to investigate 55 patients presenting with severe Cooley anemia, all maintained under permanent transfusion regimen. A large heterogeneity was demonstrated in the observed haplotypes, and only a limited overlap with those already found in thalassemia intermedia. It has been noted that many of the patients are compound heterozygotes, the various observed associations making the antenatal diagnosis at the DNA level difficult in the near future.

Adolescent↗
PubMed1986

Alterations in ornithine decarboxylase and transglutaminase activities in lymphocytes from untreated patients with chronic lymphocytic leukemia.

Ornithine decarboxylase (L-ornithine carboxylase, EC 4.1.1.17) and transglutaminase (R-glutaminylpeptide: amine gamma-glutamyltransferase, EC 2.3.2.13), enzymes implicated in the regulation of growth processes, were studied in lymphocytes from untreated patients with chronic lymphocytic leukemia. A marked increase of ornithine decarboxylase activity was found in lymphocytes from chronic lymphocytic leukemia patients when compared to normal human lymphocytes; in contrast, no transglutaminase activity was found in lymphocytes from untreated patients with chronic lymphocytic leukemia.

Cell Differentiation↗
PubMed1986

Haplotype VI associated beta + thalassaemia intermedia. First Italian case.

We report the study of a family originating from eastern Sicily with mild beta thalassaemia intermedia which is similar both at a molecular level and in clinical form to that called "beta + thalassaemia intermedia-Portuguese type". Our patients were homozygous beta + thalassaemics with high HbA2 and low HbF levels. The mild clinical course was as a result of their age and because regular blood transfusion was established only in adulthood. All of the heterozygote parents were asymptomatic with a blood picture and haemoglobin pattern typical of beta thalassaemia. Studies at a molecular level revealed no abnormalities in the beta-like globin gene cluster and excluded the presence of a deletional form of alpha thalassaemia. Restriction enzyme site polymorphisms around the beta gene cluster showed that all patients were homozygous for the haplotype described as VI. Comparison of these homozygous haplotypes with the Portuguese ones revealed a clear difference in the polymorphic Pvu II site. In all Sicilian homozygous cases, this site was present on one chromosome and absent on the other. Therefore our hypothesis is that Portuguese beta + thalassaemia intermedia is different from the Sicilian type.

Adult↗