Neonatal screening for Hb Bart's in Italian subjects of heterogeneous regional origin born in Lombardy.
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Biomedical subjects
Publications and source records attributed to G Fiorelli.
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It is known that the anemias of chronic diseases, which often occur in neoplastic and in systemic inflammatory disorders, are characterized by high levels of ferritin associated with generally low iron concentrations, by suggesting an iron transfer defect due to unknown factors. Since both chronic inflammatory diseases and advanced neoplasms are characterized by alterations in the endogenous production of cytokines, a possible involvement of interleukins in chronic disease-related anomalies of iron metabolism cannot at present be excluded. The present study was carried out to investigate the effect of low-dose IL-2 subcutaneous immunotherapy (3 million IU/day for 6 days/week for 4 weeks) on ferritin, transferring and iron serum levels in cancer patients. Six patients with metastatic gastrointestinal carcinomas were evaluated. Ferritin mean levels significantly decreased during IL-2 treatment, and this finding was associated with a significant increase in transferrin values. Iron mean levels increased in response to IL-2, without, however, significant differences in respect to the pretreatment concentrations. These preliminary data, by showing changes in ferritin, transferrin and iron in cancer patients during the immunotherapy with IL-2, would suggest the existence of a cytokine regulation of iron transfer from tissues to blood, perhaps by modulating the macrophage function.
BACKGROUND: Clinical and experimental evidence suggest that estrogen has a role in the natural history of desmoid tumor (DT) and colorectal carcinoma. METHODS: The biological effects of LY117018, a nonsteroidal antiestrogen benzothiophene derivative, were assessed on a human adenocarcinoma cell line (HCT8 cells), and on DT cells and colorectal cancer derived fibroblasts in primary culture. RESULTS: LY117018 inhibited cell proliferation and collagen type I synthesis in DT cells. The compound also reduced cell growth in HCT8 cells and colorectal cancer fibroblasts. Binding experiments revealed the presence of estrogen binding sites in DT cells and frozen tissues but LY117018 did not displace [3H]17 beta E2 binding to DT cells. CONCLUSIONS: Present results demonstrate that LY117018 inhibits epithelial and fibroblastic colon cancer cells proliferation and proliferation and differentiation of desmoid cells in vitro. The lack of displacement of [3H]17 beta E2 binding to desmoid cells by LY117018 suggests the existence of distinct LY117018 binding sites.
BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. METHODS: We examined 161 G6PD-deficient subjects (130 males and 31 females) originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. RESULTS: We found the G6PD Mediterranean genotype in roughly 70%, G6PD Union and G6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single cases of G6PD Partenope and G6PD Tokyo were also detected. CONCLUSIONS: We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83%) than in continental Italy (61%), as does G6PD Union (10% and 4%, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.