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Biomedical subjects

A M Ferraris

Publications and source records attributed to A M Ferraris.

48 records · Page 3Linked to original sources
PubMed1983

Reexpression of normal stem cells in erythroleukemia during remission.

A patient with erythroleukemia and heterozygous for the Mediterranean variant of the X-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) was studied to determine the number and type of progenitor cells in which the disease arose. G6PD mosaicism was assessed by the different rate of utilization of 2-deoxy-glucose-6-phosphate (2dG6P) by normal and Mediterranean variants of G6PD. Erythroleukemia is established as a clonal disease involving a precursor cell common to the erythroid and myeloid lines. After intensive chemotherapy, restoration of nonmonoclonal hemopoiesis is achieved, as indicated by the reappearance of the mosaic phenotype in hemopoietic cell populations.

Aged↗
PubMed1982

Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.

A patient with primary thrombocythemia, who was heterozygous for glucose-6-phosphate dehydrogenase deficiency (GdB/GdMed), was investigated to test for the clonal origin of this myeloproliferative disorder. In order to assess somatic cell mosaicism in various tissues, we have made use of the different rate of utilization of 2-deoxyglucose-6-phosphate, an analog of glucose-6-phosphate, by normal glucose-6-phosphate dehydrogenase and by the Mediterranean variant: the results demonstrate that essential thrombocythemia is a clonal disease involving the erythrocytic, granulocytic, and megakaryocytic series, without affecting monocytes, T lymphocytes, and non-T lymphocytes.

Aged↗
PubMed1981

G6PD Napoli and Ferrara II: two new glucose-6-phosphate dehydrogenase variants having similar characteristics but different intracellular lability and specific activity.

Two new glucose-6-phosphate dehydrogenase (G6PD, D-glucose 6-phosphate: NADP oxido reductase, E.C. 1.1.1.49) variants, designated G6PD Napoli and G6PD Ferrara II, are described in propositi from two unrelated families. Characterization side by side of the two variants according to W.H.O. recommendations reveals minor differences which are mostly related to utilization of artificial substrates (increased in both cases as compared with normal G6PD type B). Other properties, which are not significantly distinctive between the two variants, are an enzyme activity amounting to nearly 20% of normal, a decreased electrophoretic mobility, decreased Km values for glucose-6-phosphate and NADP, normal thermostability and biphasic pH curves. However, marked differences emerged between the two variants and between either variant and G6PD B as well, when a number of microtechniques were used. These were: (1) the half-lives of G6PD Napoli and G6PD Ferrara II are 16 and 29 d, respectively, while that of G6PD B is 63 d; (2) the specific activities, measured by a method involving direct estimation of G6PD protein on sodium dodecyl sulphate polyacrylamide gel electrophoretic tracings, are 166 I.U./mg (G6PD Napoli) and 59 I.U./mg (G6PD Ferrara II), as compared with normal value of 180 I.U./mg (G6PD B). On the whole, these findings allow the conclusion that the deficiency of catalytic activity is related to an accelerated though distinctive decay of both mutant enzyme proteins within the affected erythrocytes and that a significant impairment of catalytic efficiency is also involved, as a result of the underlying structural mutation in the case of G6PD Ferrara II.

Adult↗
PubMed1981

2-deoxy-glucose-6-phosphate utilization in the study of glucose-6-phosphate dehydrogenase mosaicism.

The electrophoretic difference between normal glucose-6-phosphate dehydrogenase (G6PD) and two common variants (G6PD A and G6PD A-) has made the G6PD enzyme system very useful for genetic studies and for investigation on the clonal origin of tumors. This approach has not been possible for another common variant, G6PD mediterranean, which has a normal electrophoretic pattern. The different utilization of 2-deoxy-glucose-6-phosphate (2dG6P), an analog of the normal substrate, by the normal enzyme and the Mediterranean variant, allows a convenient determination of the degree of mosaicism in mononuclear cells from heterozygotes.

Deoxyglucose↗
PubMed1979

Composition of human granulocytic colonies as a function of the purification stage of CSF.

Granulopoietic colonies grown in presence of human placental conditioned medium (HPCM), before and after partial purification, were characterized in terms of number of colonies, colony size and cellular composition. Our data demonstrate that the removal of inhibitors present in crude HPCM preparations results in a higher number of CFUC which are wider in size and with different cellular composition.

Bone Marrow Cells↗
PubMed1979

Multiple myeloma without detectable Ig synthesis.

A case of nonproductor myeloma is reported. The diagnosis was supported by the radiological findings, the heavy marrow infiltration of malignant plasma cells, the absence of a monoclonal component in the serum or urine and the failure to demonstrate intracytoplasmic immunoglobulins with immunoifluorescent techniques. The clinical findings of our patient are similar to those reported for the 5 cases of nonproductor myeloma described so far, indicating that there are no characteristic features differentiating nonproductor myeloma from productor myelomas.

Bone Marrow↗
PubMed1979

Serum lactic dehydrogenase as a prognostic tool for non-Hodgkin lymphomas.

Serum LDH levels have been found to be significantly increased in non-Hodgkin lymphoma (NHL) patients, both histiocytic and lymphocytic. The duration of survival of NHL negatively correlates with the level of serum lactic dehydrogenase (LDH), and statistical analysis reveals that patients with lower levels of LDH have a longer survival rate than the patients with higher LDH activity, irrespective of their histologic classification. The analysis of the results by the Test for Trend in Prognosis allows us to establish that the correlation of the rate of survival and LDH levels is independent from other clinical parameters.

Humans↗
PubMed1978

Correlation of serum IgD level with clinical and histologic parameters in Hodgkin disease.

The concentration of serum IgD was measured in 100 patients with Hodgkin disease; 65 had 3--50-fold increases in IgD levels. Several parameters were found to influence serum IgD concentration: IgD level in older patients (greater than 50 yr) was significantly lower than in the younger patients (P less than 18 yr). IgD concentration was significantly higher in splenectomized than in nonsplenectomized patients (p less than 0.005). Therapy was found to depress IgD concentration, which fell to a value significantly lower than in untreated patients (p less than 0.05). An interesting correlation was found between IgD levels and histologic type of the disease, lower levels being preferentially associated with the lymphocyte predominance type and higher with the lymphocyte dipletion type. The logarithms of the means of these two groups were significantly different from the overall mean of the disease (p less than 0.05 and p less than 0.0005, respectively). Mixed cellularity and nodular sclerosing showed intermediate values.

Aging↗
PubMedDate not supplied

Mutations of the HFE gene and the risk of hepatocellular carcinoma.

The discovery of the C282Y and H63D point mutations in the hereditary hemochromatosis-associated HFE gene allows us to study the molecular basis of congenital and acquired iron overload disorders. In hereditary hemochromatosis an increased frequency of the C282Y and, to a lesser extent, of the H63D mutations has been established, but their role in other conditions associated with iron overload and their prevalence in the normal population are still under investigation. We sought to determine the presence of such mutations, and their possible involvement in the multi-step neoplastic transformation of the hepatocytes, in patients diagnosed with hepatocellular carcinoma, a frequent complication of iron-induced liver cirrhosis occurring in untreated hereditary hemochromatosis subjects. The frequency of the C282Y and H63D mutations was determined in DNA from 12 patients with hepatocellular carcinoma and with no clinical signs of hereditary hemochromatosis. The frequency of the mutations was also determined in 130 normal subjects. A germline C282Y mutation was found in none of the hepatocellular carcinoma patients; the frequency of the H63D mutation was not increased, compared to the 130 controls. The allele frequencies of the C282Y and H63D mutations in the normal population were 0.042 and 0.185, respectively. In conclusion, we suggest that the hereditary hemochromatosis-related mutations of the HFE gene do not play a significant role in the pathogenesis of hepatocellular carcinoma.

Aged↗