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A Guerrasio

Publications and source records attributed to A Guerrasio.

81 records · Page 5Linked to original sources
PubMed1979

[Biochemical and clinical studies of 2 new Italian cases of Hb G-Ferrara heterozygosis].

The Authors report the data concerning a family coming from Ficarolo (Rovigo). The father and one son were found hematologically healthy, but resulted carriers of Hb G-Ferrara. This is an unstable rare pigment with a replacement in the beta 57 (E-1) helicoidal position. The type and site of the mutation explain the "in vitro" molecular instability; on the other hand, this latter doesn't seem to cause any hematological disorder, even if an increased met-Hb production was found when affected blood was incubated at 37 degrees C for two hours in sterile conditions.

Adult↗
PubMed1979

Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia.

Hematological data, biosynthetic studies and gamma-chain structure of three heterozygotes for HPFH Greek type and of two heterozygotes for both HPFH and beta-thalassemia are reported. In the HPFH heterozygotes, hematological data were normal and globin chain synthesis balanced, while subjects carrying both HPFH and beta-thalassemia presented a thalassemic picture and the same degree of alpha/non-alpha-chain imbalance as the beta-thalassemia carrier belonging to the same family. The gamma-chain composition studies showed only the presence of Agamma-chains in HPFH; in the association HPFH/beta-thalassemia also some Ggamma and Tgamma were found. The mechanisms determining the high production of Hb F in the association HPFH/beta-thalassemia are discussed.

Adolescent↗
PubMedDate not supplied

M-BCR breakpoint location does not predict survival in Philadelphia chromosome-positive chronic myeloid leukemia.

BACKGROUND: Some reports in the recent literature have shown that the site of molecular rearrangement within the M-BCR area may have a prognostic value in Ph1 + CML patients. A number of studies have, however, failed to demonstrate this finding. Here we report the molecular rearrangements of 107 patients and their clinical follow-up. METHODS: Localization of the breakpoints was determined according to conventional criteria, after digestion with 2 to 4 restriction endonucleases and hybridization with 1 or 2 molecular probes. RESULTS: Sixty two patients were rearranged in the 5' area and 45 in the 3' area: there was no difference between the survival curves of the two groups, at least not after 3 years of follow-up. CONCLUSIONS: The site of the breakpoint within the M-BCR has no prognostic significance in our series.

Adult↗
PubMedDate not supplied

Molecular diagnosis of Philadelphia chromosome-positive chronic myeloid leukemia.

BACKGROUND: In virtually all Ph1 chromosome-positive CML patients, the breakpoint on chromosome 22 maps in a very restricted area of 5.8 Kb, which has been named "breakpoint cluster region" or "bcr". Several molecular probes of this region are presently available, and this makes the molecular diagnosis of CML a useful approach which can be particularly important in those cases in which cytogenetic analysis does not reveal the presence of a Ph1 chromosome. Here we report the problems and our experience during the molecular analysis of the 478 patients examined so far. METHODS: Molecular analyses were performed after digestion of the DNA with 2 to 4 restriction enzymes and hybridization with different probes. Individual samples were subjected to PCR since no rearrangements had been obtained with Southern blotting. RESULTS: Rearrangement bands were detected in all the samples examined. In 473 cases the breakpoint was located within the bcr. In one of these cases, it was detected only after PCR analysis, and in two cases only after the use of the PHL/BCR probe. In 5 cases the breakpoint was localized either 5' or 3' with respect to the bcr. CONCLUSIONS: In this paper, the criteria for a correct molecular diagnosis of CML are presented. The "PHL/BCR" probe appeared to be very specific and time-saving, since it required only one digestion to evidence the rearrangement. Our results confirm the high specificity of the breakpoint on chromosome 22 in CML and the relatively rare incidence of molecular variants.

Base Sequence↗
PubMedDate not supplied

Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML.

BACKGROUND: The suppression of Ph1-positive hemopoiesis is a major goal in the treatment of CML; in this context the CML patients in blast crisis obtaining a complete clinical remission represent a useful model to investigate the behavior of the Ph1-positive and negative clones during bone marrow repopulation after ablative therapy. METHODS: Seven CML patients in blast crisis (four lymphoid and three myeloid) who obtained a complete clinical remission after an intensive polychemotherapy treatment were evaluated by cytogenetic and molecular analysis both in blast and remission phases. Standard cytogenetic and Southern techniques were employed; in addition, minimal residual disease status (MRD) was ascertained by amplification (PCR) of the specific bcr-abl chimeric transcripts. RESULTS: After a single cycle of induction, all lymphoid cases displayed a complete restoration of Ph1-negative hemopoiesis; by contrast, one myeloid blast crisis showed a partial suppression of Ph1-positive hemopoiesis only after two cycles of chemotherapy, and in the remaining two cases the hematological remission was indeed a reversion to the chronic phase. CONCLUSIONS: Ph1-positive chronic clones present in lymphoid blast crisis showed a higher degree of sensitivity to intensive chemotherapy than those present in the myeloid cases. This observation further suggests that the growth properties of the Ph1-positive clones are highly variable from case to case and probably tend to progress during the time-course of the disease.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

Expression of the hybrid P210 bcr/abl protein in Philadelphia chromosome positive B-lymphoid cell lines.

An altered c-abl protein (P210) bearing increased tyrosine kinase activity represents the product of the hybrid bcr/c-abl gene arising as a consequence of the Philadelphia (Ph1) chromosome translocation, the consistent cytogenetic abnormality of chronic myelogenous leukemia (CML). Although the chronic phase of this disease is substantially characterized by a marked proliferation of myeloid cells, the Ph1 translocation occurs in an early multipotent stem cell, giving rise to both myeloid and lymphoid cell lineages. Here we show that P210 bcr/abl protein expression varies greatly in different Ph1 chromosome positive B-lymphoid cell lines obtained from Epstein-Barr virus-transformed lymphocytes of a CML patient in the chronic phase. In addition Ph1 positive and Ph1 negative lymphoid cell lines obtained from the same patient were tested for a number of biological properties including the immunophenotype, the capacity to grow in soft agar and possible tumorigenicity in nude mice. No differences were found.

Animals↗
PubMedDate not supplied

[Treatment of Hodgkin's disease: review of 90 cases].

90 patients suffering from Hodgkin's disease, 32 in stages I and II, 42 in stage III and 16 in stage IV have been studied retrospectively. The first were treated with supra and subdiaphragmatic extensive radiotherapy, the second with total nodal or polychemotherapy (MOPP), the third with polychemotherapy. Results were highly satisfactory in stages I and II with a complete remission rate of 100% (duration: 4/100 months) and with survival of 91.8% at 7 years. At the 3rd stage, total nodal therapy led to complete remission in 73.3% of patients (9--46 months) with 5-year survival of 76.1%; at this stage, polychemotherapy induced complete remission in 65.2% of cases (6--34 months) with 4-year survival of 64%. Much worse were the results of polychemotherapy in the IVth stage. The same series has been reconsidered with allowance for explorative laparotomy by splenectomy carried out in 15 patients in I-II stage and treated with extensive radiotherapy, in 7 IIIrd stage patients subjected to total nodal therapy and in 10 in IIIrd stage treated with MOPP. In IIIrd stage splenectomized patients, the incidence of recurrences is lower than in the controls and independent of treatment. The lower incidence of recurrences also observed in I-II stage cannot be evaluated for the moment.

Adult↗