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Biomedical subjects

G Saglio

Publications and source records attributed to G Saglio.

246 records · Page 14Linked to original sources

Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis.

By combining the polymerase chain reaction (PCR) of the gamma globin gene promoters with synthetic oligonucleotide analysis we have diagnosed the -196 C----T and the -117 G----A substitutions in heterozygous carriers of non deletional A gamma HPFH from two unrelated Italian families. The identification of the beta-thalassemic defect in a compound heterozygote for -196 A gamma HPFH/beta thalassemia allows us to discuss the effect of this gamma promoter mutation on the globin chain synthetic pattern, and to make a comparison with the mutation at the -117 position.

Base Sequence↗

Oncology in the nineties: from genes to therapy.

Thanks to the impressive development and application of new sophisticated technologies, the last decade has offered remarkable advances in our understanding of the molecular and biological features of human neoplastic cells. DNA analysis in particular has contributed to the unravelling of some of the possible events which give rise to a transformed cell and which enable it to proliferate indiscriminately and to infiltrate. Cloning techniques which have allowed researchers to obtain and utilize purified molecules represent another milestone. This has opened the era of cytokines and growth factors, both in terms of their possible role in the establishment and/or progression of neoplastic conditions (autocrine/paracrine models) and of their use in clinical practice. Thus, growth factors such as granulocyte-macrophage colony stimulating factors (GM-CSF) and interleukin 3 (IL-3) are currently being employed in the management of cancer patients, mainly to support normal hemopoiesis. Conversely, recombinant interleukin 2 (IL-2) through its unique capacity to generate previously unrecognized cytotoxic activity, lymphokine active killer (LAK), has brought about new and more specific immunotherapeutic strategy. Further therapeutic possibilities will arise from the clinical use of monoclonal antibodies. Finally, the development of genetic engineering has opened the way to the early and revolutionary clinical exploitation of gene therapy; the possibility of utilizing in vivo anti-sense oligonucleotides in an attempt to block the action of specific genes is also being contemplated.(ABSTRACT TRUNCATED AT 250 WORDS)

Cell Transformation, Neoplastic↗

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↗

[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↗

[The Hbf in Fanconi's anemia (author's transl)].

The Authors studied the HbF in an 8-year-old-girl with Fanconi's anemia. At the admission the patient was anemic (Hb 7,1 g%), thrombocytopenic and leucopenic, HbF was 23% (1,8 g%) with heterocellular distribution. Globin chain synthesis in the peripheral blood displayed an alpha/non alpha ratio of. 1,05. gamma-Chain analysis was performed: at position 136 the gamma G/gamma A ratio was 3:1 at positions 75 threonine was present in the 30% of the chains. The girl was transfused and oximetholone therapy was started. After 2 months of treatment, an increase of the Hb levels was observed. This improvement lasted about 5 months. The amount of HbF remained constant throughout the management. It may be suggested that androgens work only on HbA synthesis while the HbF-producing-cells are irresponsive to the hormonal stimulation.

Androgens↗