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F Dore

Publications and source records attributed to F Dore.

At least 19 recordsLinked to original sources
PubMed2004

Cytogenetic and hematological spontaneous remission in a case of acute myelogenous leukemia.

Several cases of spontaneous remission (SR) interrupting the invariably progressive course of untreated acute myeloblastic leukemia (AML) have been reported so far. We shall add to this series the hematological and cytogenetic SR occurring in a 72-yr-old man affected by AML following myelodysplastic syndrome. At diagnosis cytogenetic analysis showed the 48, xy, del (6) (p22-pter), +13, +14 karyotype. Owing to a lobar pneumonia, the chemotherapy was deferred and a broad spectrum antibiotic therapy was established. Supportive care included red cells and platelet transfusions and low-dose corticosteroid. Two months later, after the pneumonia had completely disappeared, a complete remission, lasting about 5 months, was documented on bone marrow morphological and cytogenetical examination, although some degree of myeloid dysplasia persisted. Possible mechanisms of the various SRs described during the course of AML are discussed with a review of the literature.

Adrenal Cortex Hormones↗
PubMed1998

Thromboembolic events in beta thalassemia major: an Italian multicenter study.

Thromboembolic (TE) events have been frequently reported in beta-thalassemic patients in association with known risk factors such as diabetes, complex cardiopulmonary abnormalities, hypothyroidism, liver function anomalies, and postsplenectomy thrombocytosis. In a recent survey involving 9 Italian thalassemic centers, we identified 32 patients with TE episodes in a total of 735 subjects, of whom 683 had thalassemia major and 52 thalassemia intermedia, corresponding to 3.95 and 9.61%, respectively. There was a great variation in localization: the main one (16/32) was CNS, with a clinical picture of headache, seizures and hemiparesis. Other localizations were the pulmonary (3 patients), mesenteric (1 patient) and portal (2 patients) sites. There were 6 cases of deep venous thrombosis (2 in the upper limbs, 4 in the lower ones). Intracardiac thrombosis was found in 2 subjects and clinical and laboratory signs of DIC were observed in 2 others during pregnancy. Since our patients with TE events present a statistically significantly higher incidence of associated dysfunction (cardiomyopathy, diabetes, liver function anomalies, hypothyroidism) than those without TE events (50 vs. 13.8%), we suggest close monitoring of those patients who are at higher risk of developing TE events because of the presence of one or more of these predisposing factors.

Adolescent↗
PubMed1997

Maximal gamma-globin expression in the compound heterozygous state for -175G gamma HPFH and beta degree 39 nonsense thalassaemia: a case study.

The -175 (T-->C) G gamma hereditary persistence of fetal haemoglobin is a very rare promoter mutation occurring in Caucasians as well as in African-Americans. Heterozygotes for this non-deletional HPFH show 20% HbF, mostly of G gamma type. We describe here a healthy Sardinian man who coinherited -175 (T-->C) G gamma HPFH with the beta-thalassaemia codon 39 nonsense mutation in trans; he showed 64% HbF, 100% of G gamma type. Although the beta-globin haplotype pattern (II/II) was indicative of the presence of the A gamma T allele on both chromosomes, the A gamma T expression was undetectable by HPLC even in red cell populations separated by age. The proband was, moreover, homozygous for the -4 bp deletion at position -225 to -222 of A gamma promoter which has recently been associated with decreased A gamma T globin expression. These findings suggest that this maximal overexpression of G gamma-globin probably reflects intensified stimulation of the mutated G gamma promoter in this hitherto undescribed genetic condition.

Adult↗
PubMed1996

Frequency of delta+ 27-thalassaemia in Sardinians.

To determine the incidence of delta+ 27 thalassaemia in Northern Sardinia we examined blood samples from 750 Sardinian schoolboys by PCR-based molecular analysis. The incidence of delta+ 27 mutation was 1.2% in this study, i.e. twice as high as previously described on the basis of phenotypical studies; the frequency of the beta-thalassaemia is 10.5% and their interaction has been calculated at 0.0003. The majority of delta+ 27 carriers are characterized by a HbA2 level lower than 1.9% and the mean HbA2 level is significantly lower than in normal subjects. All compound heterozygotes for delta+ 27 and beta-thalassaemia show a silent beta-thalassaemic phenotype related to normalization of their HbA2 levels. This study suggests that delta+ 27 thalassaemia should be borne in mind in counselling at-risk couples in which one member has the typical high HbA2 beta-thal trait while the other shows normal or borderline HbA2 level. In these subjects, PCR-based ECO O 109 I digestion of the delta globin gene allows rapid detection of the delta+ 27 mutation.

Adolescent↗
PubMed1995

Fetal hemoglobin expression in compound heterozygotes for -117 (G-->A)A gamma HPFH and beta zero 39 nonsense thalassemia.

The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and beta zero 39-thal to haplotype II. Haplotype II beta zero 39-thal chromosome carries the A gamma T gene which is a useful marker of gamma-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the A gamma I, A gamma T, and G gamma globin level was determined. A gamma T was underexpressed while G gamma was significantly increased, which suggest that in -117 A gamma HPFH/beta zero 39-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated A gamma gene and the adjacent G gamma gene.

Adult↗
PubMed1994

Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients.

Clinical data suggest that in beta-thalassemia-intermedia patients, higher levels of circulating fetal hemoglobin (HbF) are associated with greater disease severity at comparable degrees of anemia. We assessed the influence of the amount of circulating HbF on serum erythropoietin (s-Epo) levels and on serum transferrin receptor, a measure of erythropoiesis, in 30 beta-thalassemia-intermedia patients. Twenty-four showed more than 40% HbF (21 of whom with beta (0)-thalassemia) and 6 presented lower HbF levels (beta(+)-thalassemia). The two groups of patients did not differ in age (15.3 v 19 years, respectively) or degree of anemia (Hb = 8.8 g/dL in both groups). Log (s-Epo) was correlated inversely with Hb (r = -0.47; P < .01), and directly with HbF (r = .55; P < .001). Multivariate regression analysis showed that Hb and HbF were independently correlated with s-Epo levels. High-HbF patients had greater s-Epo values at the same Hb level than low-HbF patients. Considering that iron-deficiency anemia control patients represented the predicted physiologic response of s-Epo to anemia, the observed/predicted s-Epo ratio in low-HbF thalassemic patients was no different from controls, but was increased in the high-HbF group. High-HbF patients also showed an expansion of erythropoiesis as much as four to nine times the normal value at the same Hb level as low-HbF patients. We conclude that HbF exerts an independent regulatory effect on erythropoietin production and erythropoiesis that is detectable only when HbF levels exceed 40%.

Adolescent↗
PubMed1994

A 12-year preventive program for beta-thalassemia in Northern Sardinia.

From 1980 to 1991, 6.3% of the adult population of the province of Sassari, Northern Sardinia, underwent voluntary beta-thalassemia screening. Of the 28,000 subjects examined, 15.7% proved to be heterozygotes for beta-thalassemia. In addition, the screening of 7500 students in 26 villages in Sassari province fixed the frequency of beta-thalassemia in this part of Sardinia at 10.4%. Of the 539 couples at risk to be expected from this figure, the screening detected 43% (234). The data suggest that inductive screening played a major role in the efficiency of this preventive beta-thalassemia program. Follow up of 221 pregnancies found to be at risk for homozygous beta-thalassemia and referred to the Antenatal Diagnosis Service, Cagliari, Southern Sardinia, showed that antenatal diagnosis was carried out in 80% of them. The overall percentage of couples refusing antenatal diagnosis was 10.8%, but over the years the acceptance rate for the procedure increased from 87% to 96%. Atypical hematological findings in 1.5% of 468 members of the couples at risk required globin chain synthesis and molecular analyses to define the precise beta-thalassemia genotype. Heterogeneous "mild" beta-thalassemia mutations as well as coexisting delta-thalassemia were found in silent type I and type II beta-thalassemia carriers which, without chain synthesis and DNA investigations, would have escaped detection.

Genetic Counseling↗
PubMed1994

Repeated PCR in CML during IFN-alpha therapy.

Repeated PCR analysis was performed on bone marrow and/or peripheral blood samples from 4 CML patients in complete cytogenetic remission during treatment with IFN-alpha. Two patients became PCR-negative. One was negative for the analyses carried out from the 9th to the 30th months, but reverted to PCR positivity 10 months after IFN was reduced from 1.5 x 10(6) IU/day to 1 x 10(6) IU and given on alternate days. Although the dose was again raised to 3 x 10(6) IU/day, 8 months later her peripheral blood cells were still PCR-positive, but remained persistently Ph'-negative. Another patient became PCR-negative at the 42nd month and remained so at the last analysis performed 3 months later. Two patients were persistently PCR-positive. Cytogenetic relapse was documented in both, in one while still on full therapy. Ph'-positive metaphases reappeared in the other patient 7 months after discontinuing IFN-alpha therapy.

Adult↗
PubMed1993

Serum erythropoietin levels in thalassemia intermedia.

Serum concentrations of erythropoietin (EPO) were determined by immunoassay in 45 patients with thalassemia intermedia (TI). The mean serum level of EPO was significantly higher in the thalassemic patients than in the controls, but transfused subjects had lower pretransfusional serum concentrations of EPO than untransfused ones. An inverse relationship between the serum values of EPO and total hemoglobin was observed only in the untransfused thalassemic patients. These data suggest that in TI, even a low transfusional regimen may cause a decrease in serum concentration of EPO, independent of the level of total Hb.

Adolescent↗
PubMed1992

[Current views of thalassemia intermedia].

Recently the molecular bases of thalassemia intermedia have been elucidated in several populations. In general this attenuated, non-transfusion dependent form of homozygous beta-thalassemia is mainly determined by a) the co-inheritance of deletion alpha-thalassemia; b) the presence of the so-called mild beta-thalassemia mutations; and more rarely, c) the inheritance of genetic conditions able to enhance the gamma-globin chain expression in adult life. Although there are several complex genetic and acquired interactions involved in the wide clinical heterogeneity of thalassemia intermedia, data in Italians indicate a definite genotype-phenotype relationship in conditions such as the co-inheritance of at least two alpha-thalassemia genes in severe and mild homozygous beta-thalassemia; the molecular homozygosity or double heterozygosity for the -87, -101 and IVS1(nt6) beta(+)-thalassemia mutations; and the coexistence of structural gamma-globin gene defects, i.e. Sicilian and Sardinian delta beta-thalassemias, deletional and non-deletional hereditary persistence of fetal hemoglobin and the polymorphism for the -158 XmnI G gamma restriction site. Thalassemia intermedia resulting from the inheritance in heterozygous beta-thalassemia of triple alpha-globin gene complex or the presence of dominant beta-thalassemia is also described and the role of these new informations in genetic counselling is discussed.

Base Sequence↗
PubMed1990

[Diagnosis of hepatic hemangioma with simplified double 99mTc labelling].

The authors report on their experience with liver hemangioma (LH) diagnosis by means of a simplified method--that is, the simultaneous, in vivo, double labelling of liver reticuloendothelial system (RES) and of red blood cells (RBC) by 99mTc. Twenty-eight patients with US diagnosis of suspected LH and 15 controls were examined after sequential iv injection of SnCl2, of 99mTc-mucolloid albumin and, after liver scintigraphy, of 99mTc-pertechnetate to conclude in vivo RBC labelling. All patients underwent CT and, if necessary, CT-guided biopsy. Focal colloid defects filled after RBC labelling were shown in 20/22 patients with unquestionable LH. No colloid defects were shown in 6/28 cases (expansive process). 15/15 controls showed unchanged non-filling defects after double labelling. Finally, the authors point out that, in the diagnosis of LH, sequential double labelling of liver RES and RBC appears to be a quicker scintigraphic technique than conventional ones. Moreover, this technique has the same high specificity and sensitivity as more time-consuming ones.

Adult↗