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807 results on '"Fiorelli, G"'

19. TT VIRUS (TTV) INFECTION IN THALASSEMIA MAJOR

Author

Sampietro, M., Tavazzi, D., di Montemuros, F. Martinez, Cerino, M., Zatelli, S., Lunghi, G., Orlandi, A., Fargion, S., Fiorelli, G., and Cappellini, M. D.

Published
1999

36. No association between genetic hemochromatosis and alpha1-antitrypsin deficienc

Author

Fargion, S, Bissoli, F, Fracanzani, A, Suigo, E, Sergi, C, Taioli, E, Ceriani, R, Dimasi, V, Sampietro, M, Fiorelli, G., PIPERNO, ALBERTO, Fargion, S, Bissoli, F, Fracanzani, A, Suigo, E, Sergi, C, Taioli, E, Ceriani, R, Dimasi, V, Piperno, A, Sampietro, M, and Fiorelli, G

Subjects
Adult, Male, Carcinoma, Hepatocellular, Adolescent, Hemochromatosi, Hepatology, Liver Cirrhosi, Risk Factor, Middle Aged, Liver Neoplasm, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency, Female, Aged, Human
Abstract

Genetic hemochromatosis and alpha1-antitrypsin (AAT) deficiency are frequent in white populations. Conflicting data on the association of the two conditions and on the severity of the disease in those in whom these disorders coexist have emerged from analyses of small numbers of patients. To determine if the frequency of AAT deficiency is increased in genetic hemochromatosis, we characterized this protein by isoelectric focusing and DNA analysis in 115 Italian patients with the disease and 290 controls. The frequency of AAT deficiency in patients with genetic hemochromatosis was similar to that in controls (10% and 9%, respectively). The prevalence of cirrhosis in patients with genetic hemochromatosis with MM phenotype was 53%, compared with 58% in those with non-MM phenotype; that of hepatocellular carcinoma, occurring only in cirrhotic patients, was 22% and 28%, respectively. In conclusion, the frequency of AAT deficiency was not increased in our large series of Italian patients with genetic hemochromatosis. Patients in whom the two defects coexisted did not appear to have a more severe disease, but the limited number of subjects with non-MM phenotype does not allow a conclusive evaluation of clinical differences between them and patients with genetic hemochromatosis with MM phenotype.

Published
1996

37. Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload

Author

Camaschella, C., Daraio, F., Marco De Gobbi, Fiorelli, G., Kury, F., Moritz, A., Oberkanins, C., De Gobbi, M, Daraio, F, Oberkanins, C, Moritz, A, Kury, F, Fiorelli, G, and Camaschella, Clara

Subjects
Male, Molecular Epidemiology, Iron Overload, Genotype, Blood Donors, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Histocompatibility Antigens Class I, genetics, Humans, Iron Overload, genetics, Italy, epidemiology, Male, Membrane Proteins, genetics, Molecular Epidemiology, Receptors, Transferrin, genetics, DNA Mutational Analysis, Histocompatibility Antigens Class I, Membrane Proteins, Blood Donors, Gene Frequency, Italy, Receptors, Receptors, Transferrin, Humans, epidemiology, Female, Hemochromatosis Protein
Abstract

Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin.Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (50% in males and45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay.In the series studied the overall C282Y allele frequency was 9% and that of the H63D and S65C was 22.2% and 1.4%, respectively. One rare HFE allele (E168Q), but no TFR2 mutation was detected. When checked at a second examination, transferrin saturation was significantly higher in C282Y homozygotes, H63D/ C282Y compound heterozygotes and H63D homozygotes as compared to wild-type subjects (p0.05).Our results confirm previous findings on C282Y and H63D mutations in Italy, show that the C282Y allele frequency is enriched in samples selected for altered iron parameters, and that a few rare genotypes are present in Northern Italy. None of the known TFR2 mutations was identified in this series confirming the preliminary indication of their rare occurrence. Subjects with hemochromatosis-associated genotypes show a persistently higher mean transferrin saturation than do those with wild type genotypes.

Published
2003

39. Bone and joint involvement in genetic hemochromatosis: role of cirrhosis and iron overload

Author

Sinigaglia, L, Fargion, S, Fracanzani, A, Binelli, L, Battafarano, N, Varenna, M, Piperno, A, Fiorelli, G, Fiorelli, G., PIPERNO, ALBERTO, Sinigaglia, L, Fargion, S, Fracanzani, A, Binelli, L, Battafarano, N, Varenna, M, Piperno, A, Fiorelli, G, Fiorelli, G., and PIPERNO, ALBERTO

Abstract

To evaluate the frequency of arthropathy and osteoporosis in genetic hemochromatosis (GH) and to quantify potential risk factors for these 2 conditions.

Published
1997

40. Liver iron influences the response to interferon alpha therapy in chronic hepatitis C

Author

Fargion, S, Fracanzani, A, Sampietro, M, Molteni, V, Boldorini, R, Mattioli, M, Cesana, B, Lunghi, G, Piperno, A, Valsecchi, C, Fiorelli, G, Fiorelli, G., PIPERNO, ALBERTO, Fargion, S, Fracanzani, A, Sampietro, M, Molteni, V, Boldorini, R, Mattioli, M, Cesana, B, Lunghi, G, Piperno, A, Valsecchi, C, Fiorelli, G, Fiorelli, G., and PIPERNO, ALBERTO

Abstract

To define whether there is any relation between the iron status of patients with hepatitis C virus (HCV) chronic liver disease and their response to interferon therapy.

Published
1997

42. Haemochromatosis in patients with b-thalassemia trait

Author

PIPERNO A, MARIANI R, AROSIO C, VERGANI A, BOSIO S, FARGION S, SAMPIETRO M, GIRELLI DFRAQUELLI M, GIRELLI D, CONTE D, FIORELLI G, CAMASCHELLA , CLARA, Piperno, A, Mariani, R, Arosio, C, Vergani, A, Bosio, S, Fargion, S, Sampietro, M, GIRELLI DFRAQUELLI, M, Girelli, D, Conte, D, FIORELLI G, and Camaschella, Clara

Published
2000

43. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload

Author

Fargion, S, Fracanzani, A, Romano, R, Cappellini, M, Faré, M, Mattioli, M, Piperno, A, Ronchi, G, Fiorelli, G, Fiorelli, G., PIPERNO, ALBERTO, Fargion, S, Fracanzani, A, Romano, R, Cappellini, M, Faré, M, Mattioli, M, Piperno, A, Ronchi, G, Fiorelli, G, Fiorelli, G., and PIPERNO, ALBERTO

Abstract

Mild to moderate iron overload is found in most patients with porphyria cutanea tarda. This study aimed to evaluate whether iron overload in patients with porphyria cutanea tarda is related to the presence of a coexistent genetic hemochromatosis gene.

Published
1996

44. Iron stores, response to alpha-interferon therapy, and effects of iron depletion in chronic hepatitis C

Author

Piperno, A, Sampietro, M, D'Alba, R, Roffi, L, Fargion, S, Parma, S, Nicoli, C, Corbetta, N, Pozzi, M, Arosio, V, Boari, G, Fiorelli, G, PIPERNO, ALBERTO, Fiorelli, G., Piperno, A, Sampietro, M, D'Alba, R, Roffi, L, Fargion, S, Parma, S, Nicoli, C, Corbetta, N, Pozzi, M, Arosio, V, Boari, G, Fiorelli, G, PIPERNO, ALBERTO, and Fiorelli, G.

Abstract

We studied 81 patients with chronic hepatitis C to investigate the relationship between iron and alpha-interferon response. Sixty-one patients (group A) were given alpha-interferon irrespective of iron status, whereas 20 (group B) with iron overload, were iron depleted before alpha-interferon therapy. In group A, 21 patients responded to alpha-interferon and 40 were non-responders. Increased iron indices were significantly more frequent in non-responders than responders. Multivariate analysis showed that among the independent variables evaluated, only gamma-GT and liver iron concentration predicted therapy outcome. After phlebotomy treatment, serum alanine aminotransferase fell significantly both in patients of group B (196 +/- 122 IU/l vs 82 +/- 37 IU/l, p < 10(-6)) and in 12 non-responders of group A (198 +/- 89 IU/l vs 107 +/- 81 IU/l, p < 10(-6)). In 16 iron depleted patients, eight from each group, subsequent treatment with alpha-interferon produced a response in only one patient. These results suggest that increased liver iron is a negative prognostic factor for alpha-interferon response in chronic hepatitis C. Iron depletion had a beneficial effect on serum alanine aminotransferase in all the patients treated, but did not improve the response to alpha-interferon.

Published
1996

45. Liver iron concentration in chronic viral hepatitis: a study of 98 patients

Author

Piperno, A, D'Alba, R, Fargion, S, Roffi, L, Sampietro, M, Parma, S, Arosio, V, Faré, M, Fiorelli, G, PIPERNO, ALBERTO, Fiorelli, G., Piperno, A, D'Alba, R, Fargion, S, Roffi, L, Sampietro, M, Parma, S, Arosio, V, Faré, M, Fiorelli, G, PIPERNO, ALBERTO, and Fiorelli, G.

Abstract

To compare the liver iron concentration (LIC) of Italian patients with chronic hepatitis B and C with those of controls, to evaluate increased LIC frequency in patients and to investigate the influence of the haemochromatosis gene in the development of liver iron overload.

Published
1995

47. Prognostic factors for hepatocellular carcinoma in genetic hemochromatosis

Author

Fargion, S, Fracanzani, A, Piperno, A, Braga, M, D'Alba, R, Ronchi, G, Fiorelli, G, Fiorelli, G., PIPERNO, ALBERTO, Fargion, S, Fracanzani, A, Piperno, A, Braga, M, D'Alba, R, Ronchi, G, Fiorelli, G, Fiorelli, G., and PIPERNO, ALBERTO

Abstract

To identify factors that might be useful as prognostic indexes for the risk of hepatocellular carcinoma in Italian patients with genetic hemochromatosis, 152 homozygotes were studied prospectively for 1 to 229 mo. Factors that were considered in estimating the risk of developing hepatocellular carcinoma were age, sex, cirrhosis (Child class), HBsAg, antibodies to HBsAg, antibodies to HBcAg, hepatitis C antibodies, alcohol abuse and the amount of iron removed during therapeutic phlebotomy to produce iron depletion. At diagnosis, cirrhosis was present in 97 patients and absent in 55. During follow-up, hepatocellular carcinoma developed in 28 of the 97 patients with cirrhosis but in none of those without. Among patients with cirrhosis, the cumulative probability of being free of hepatocellular carcinoma at 10 yr was 70%. For patients with and without HBsAg the probabilities of being free of liver cancer at 10 yr were, respectively, 54% and 75%; for those with and without history of alcoholism, 58% and 78%; and for those younger and older than 55 yr, 90% and 54%. In patients with cirrhosis, multivariate analysis using proportional-hazards (Cox) regression found that the only factors contributing significantly to the estimation of a prognostic index were age, presence of HBsAg and alcohol abuse. Age over 55 yr increased the relative risk of hepatocellular carcinoma 13.3-fold (p < 0.001), the presence of HBsAg increased it 4.9-fold (p < 0.02) and alcohol abuse increased it 2.3-fold (p < 0.04).(ABSTRACT TRUNCATED AT 250 WORDS)

Published
1994

48. HCV-RNA POSITIVE HEPATITIS IN LIVER-TRANSPLANT RECIPIENTS

Author

Caccamo, L, Sanpietro, M, Rossi, G, Salvadori, S, Colledan, M, Gridelli, B, Doglia, M, Lucianetti, A, Paone, G, Reggiani, P, Fassati, L, Fiorelli, G, Galmarini, D, CACCAMO L, SANPIETRO M, ROSSI G, SALVADORI S, COLLEDAN M, GRIDELLI B, DOGLIA M, LUCIANETTI A, PAONE G, REGGIANI P, FASSATI LR, FIORELLI G, GALMARINI D, Caccamo, L, Sanpietro, M, Rossi, G, Salvadori, S, Colledan, M, Gridelli, B, Doglia, M, Lucianetti, A, Paone, G, Reggiani, P, Fassati, L, Fiorelli, G, Galmarini, D, CACCAMO L, SANPIETRO M, ROSSI G, SALVADORI S, COLLEDAN M, GRIDELLI B, DOGLIA M, LUCIANETTI A, PAONE G, REGGIANI P, FASSATI LR, FIORELLI G, and GALMARINI D

Published
1993

50. Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: evidence of hypothalamic dysfunction

Author

Piperno, A, Rivolta, M, D'Alba, R, Fargion, S, Rovelli, F, Ghezzi, A, Micheli, M, Fiorelli, G, PIPERNO, ALBERTO, Fiorelli, G., Piperno, A, Rivolta, M, D'Alba, R, Fargion, S, Rovelli, F, Ghezzi, A, Micheli, M, Fiorelli, G, PIPERNO, ALBERTO, and Fiorelli, G.

Abstract

We studied endocrine functions at baseline and after TRH and LHRH stimulation in a group of 7 young male patients with genetic hemochromatosis (HE) without liver damage (i.e. fibrosis and cirrhosis). In five patients endocrine re-evaluations after complete iron depletion was also performed. Mean basal testosterone (T), FSH, LH and PRL were significantly lower than in controls. Serum T increased normally after HCG stimulation. The normal or high increments of LH after LHRH stimulation suggest that secretion capacity of LH was intact and that hypothalamic dysfunction could be responsible for the preclinical gonadal deficiency found in our patients. The response of PRL to TRH indicates that secretion capacity of lactotrophs although present, was decreased and did not improve after phlebotomy therapy. After iron depletion the two patients with the lowest basal T levels showed the highest increments indicating that in the early stages of hypothalamic-pituitary damage gonadal dysfunction is still reversible in HE patients.

Published
1992

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