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1. Delivered Poloidal Field Coils to ITER Fusion Tokamak Facility: Status, Factory Acceptance Test Results and Overview of the Undergone Electrical Tests in Manufacturing Processes

Author

Lopez, M. Martinez, primary, Bonito-Oliva, A., additional, Carvas, P., additional, Loizaga, A., additional, Romano, G., additional, Aprili, P., additional, Vizio, E., additional, Rossi, D., additional, Batista, R., additional, Readman, P., additional, Guang, S., additional, Magouri, N., additional, Gaxiola Smieee, E., additional, Bersier, J. L., additional, Ilin, Y., additional, Baikalov, A., additional, Min, L., additional, Mitchell, N., additional, Schild, T., additional, Damiani, D., additional, Cavanna, E., additional, Pizzigoni, G., additional, Amaduzzi, A., additional, Berrino, M., additional, Levrero, M., additional, and Mussinato, A., additional

Published
2024
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4. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis

Author

Thomson, G., Valdes, A. M., Noble, J. A., Kockum, I., Grote, M. N., Najman, J., Erlich, H. A., Cucca, F., Pugliese, A., Steenkiste, A., Dorman, J. S., Caillat-Zucman, S., Hermann, R., Ilonen, J., Lambert, A. P., Bingley, P. J., Gillespie, K. M., Lernmark, Å., Sanjeevi, C. B., Rønningen, K. S., Undlien, D. E., Thorsby, E., Petrone, A., Buzzetti, R., Koeleman, B. P.C., Roep, B. O., Saruhan-Direskeneli, G., Uyar, F. A., Günoz, H., Gorodezky, C., Alaez, C., Boehm, B. O., Mlynarski, W., Ikegami, H., Berrino, M., Fasano, M. E., Dametto, E., Israel, S., Brautbar, C., Santiago-Cortes, A., de Llado, T. Frazer, She, J.-X., Bugawan, T. L., Rotter, J. I., Raffel, L., Zeidler, A., Leyva-Cobian, F., Hawkins, B. R., Chan, S. H., Castano, L., Pociot, F., and Nerup, J.

Published
2007

18. Genetic heterogeneity by age at onset of Type I diabetes: higher prevalence of patients with 0 susceptible heterodimers in adults than in children in the registry of Turin, Italy

Author

Berrino M, Graziella Bruno, R. Arcari, Pagano A, F. Cerutti, and Gianfranco Pagano

Subjects
Adult, Pediatrics, medicine.medical_specialty, Genotype, business.industry, Genetic heterogeneity, Endocrinology, Diabetes and Metabolism, HLA-DQ alpha-Chains, Diabetes Mellitus, Type 1, Italy, HLA-DQ Antigens, Internal Medicine, medicine, Type i diabetes, HLA-DQ beta-Chains, Humans, Registries, Age of Onset, business, Child, Dimerization
Published
2001

19. Prognostic value of a CCR5 defective allele in pediatric HIV-1 infection

Author

Romiti, M. L., Colognesi, C., Cancrini, C., Mas, A., Berrino, M., Salvatori, F., Orlandi, P., Jansson, M., Palomba, E., Plebani, A., Bertran, J. M., Hernandez, M., Martino, M., Amoroso, A., Tovo, P. A., PAOLO ROSSI, Espanol, T., and Scarlatti, G.

Subjects
Adolescent, Receptors, CCR5, Macrophages, Adolescence, Alleles, Child, Infant, Newborn, virus diseases, Infant, HIV Infections, Prognosis, Infectious Disease Transmission, Vertical, HIV Long-Term Survivors, Jurkat Cells, Phenotype, Predictive Value of Tests, Child, Preschool, Mutation, HIV-1, Humans, Sequence Deletion, Research Article
Abstract

BACKGROUND: A deletion of 32 base pairs in the CCR5 gene (delta32 CCR5) has been linked to resistance to HIV-1 infection in exposed adults and to the delay of disease progression in infected adults. MATERIALS AND METHODS: To determine the role of delta32 CCR5 in disease progression of HIV-1 infected children born to seropositive mothers, we studied a polymerase chain reaction in 301 HIV-1 infected, 262 HIV-1 exposed-uninfected and 47 HIV-1 unexposed-uninfected children of Spanish and Italian origin. Infected children were further divided into two groups according to their rate of HIV-1 disease progression: rapid progressors who developed severe clinical and/or immunological conditions within the second year of life, and delayed progressors with any other evolution of disease. Among the latter were the long-term, non-progressors (LTNP) who presented with mild or no symptoms of HIV-1 infection above 8 years of age. Viral phenotype was studied for 45 delayed progressors. RESULTS: No correlation was found between delta32 CCR5 and mother-to-child transmission of HIV-1. However, the frequency of the deletion was substantially higher in LTNP, compared with delayed (p = 0.019) and rapid progressors (p = 0.0003). In children carrying the delta32 CCRS mutation, the presence of MT-2 tropic virus isolate was associated with a severe immune suppression (p = 0.028); whereas, the presence of MT-2 negative viruses correlated with LTNP (p = 0.010). CONCLUSIONS: Given the rapidity and simplicity of the assay, the delta32 CCR5 mutation may be a useful predictive marker to identify children with delayed disease progression who, consequently, may not require immediate antiretroviral treatment.

Published
2000

20. Prognostic value of a CCR5 defective allele in paediatric HIV-1 infection

Author

Romiti, Ml, Colognesi, C, Cancrini, C, Mas, A, Berrino, M, Salvatori, F, Orlandi, P, Jansson, M, Palomaba, E, Bertan, Jm, Galli, L, Hernandez, M, Amoroso, A, Tovo, Pa, Rossi, P, IN CO-OPERATION WITH EUROPEAN CONCERT ACTION, Etasg, and EUROPEAN SHARED COST PROJECT GROUP AND THE ITALIAN REGISTER FOR HIV INFECTION IN, C

Subjects
Settore MED/02
Published
2000

21. Rapid disease progression in HIV-1 perinatally infected children born to mothers receiving zidovudine monotherapy during pregnancy

Author

Author: de Martino, Galli, M, Tovo, L, Gabiano, Pa, Zappa, C, M, Group Author: Italian Register HIV Infect Children Italian Register: Osimani, Zizzadoro, P, P, Mattia, De, Ruggeri, D, Lanari, M, Dalla, Vecchia, Masi, S, Baldi, M, Battisti, F, Duse, L, Crispino, M, Uberti, P, Bresciani, E, Chiriacò, E, Pintor, Pg, Dedoni, C, Loriano, M, Dessi, D, Anastasio, C, Sabatino, L, Sticca, G, Berrino, M, Lodato, R, Vierucci, A, Farina, A, S, Luca, De, Maria, De, Fioredda, A, Boni, F, Marazzi, S, Pontali, Mg, Forni, E, Gotta, Gi, Tasso, C, Gambaretto, L, Meo, G, Plebani, A, Pinzani, A, Salvini, R, Marchisio, F, Massironi, P, Tornaghi, E, Zuccotti, R, Riva, Gv, Carlis, De, Ferraris, S, Bucceri, G, Liprieri, A, Cellini, R, Guarino, M, Pignata, A, Tarallo, C, Giaquinto, L, Ruga, C, Rampon, E, Romano, O, Benaglia, A, Caselli, G, Maccabruni, D, A, and Consolini, Rita

Published
1999

22. Polymorphisms in angiotensin-converting enzyme gene and severity of renal disease in Henoch-Schoenlein patients. Italian Group of Renal Immunopathology

Author

Amoroso, A., Danek, G., Vatta, S., Crovella, Sergio, Berrino, M., Guarrera, S., Fasano, M. E., Mazzola, G., Amore, A., Gianoglio, B., Peruzzi, L., Coppo, R., A., Amoroso, G., Danek, S., Vatta, Crovella, Sergio, M., Berrino, S., Guarrera, M. E., Fasano, G., Mazzola, A., Amore, B., Gianoglio, L., Peruzzi, and R., Coppo

Subjects
Adult, Male, Adolescent, Genotype, IgA Vasculitis, Peptidyl-Dipeptidase A, Polymerase Chain Reaction, Glomerulonephritis, Alleles, DNA Transposable Elements, Female, Gene Deletion, Gene Frequency, IGA, Homozygote, Humans, Middle Aged, Polymorphism, Genetic, Purpura, Schoenlein-Henoch, Recurrence, Retrospective Studies, Glomerulonephriti, Allele, Polymorphism, Genetic, Glomerulonephritis, IGA, DNA Transposable Element, Human
Abstract

The influence of angiotensin converting enzyme (ACE) gene polymorphism on the progression of primary IgA nephropathy (pIgAN) is still debated. Even though the allele frequency was reported to be similar to controls, in some studies D/D patients had a faster decline of renal function and need of dialysis. Since Henoch-Schoenlein purpura (HSP) nephritis is considered a systemic vasculitis with renal lesions indistinguishable from pIgAN, we investigated the effect of the ACE polymorphism on presentation and progression of HSP IgAN.We examined the insertion (I) and deletion (D) polymorphism in intron 16 of ACE gene by PCR amplification of genomic DNA of 82 patients (37 children), with biopsy-proven IgAN associated with HSP enrolled in a collaborative study.No significant association with clinical presentation at onset or with final outcome was found (functional impairment at outcome in 31.8%, D/D, 27.4%, I/D and 44% I/I, heavy proteinuria in 36.3% D/D, 21.6% I/D, and 11.1% I/I). Patients homozygous for the D allele had a greater number of extrarenal relapses (P=0.0028). No association was found between the ACE genotype and the presence of hypertension at onset and at the end of the follow-up. No difference was found between adults and children.In this cohort of HSP IgAN, no ACE I/D polymorphisms were found to be associated with progressive deterioration of renal function. Different genes possibly involved in vasculitis might more strictly modulate expression and evolution of HSP IgAN.

Published
1998

23. Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation

Author

Bertinetto, F E, Dall'Omo, A M, Mazzola, G A, Rendine, S, Berrino, M, Bertola, L, Magistroni, P, Caropreso, P, Falda, M, Locatelli, Franco, Busca, A, Amoroso, A, Locatelli, F (ORCID:0000-0002-7976-3654), Bertinetto, F E, Dall'Omo, A M, Mazzola, G A, Rendine, S, Berrino, M, Bertola, L, Magistroni, P, Caropreso, P, Falda, M, Locatelli, Franco, Busca, A, Amoroso, A, and Locatelli, F (ORCID:0000-0002-7976-3654)

Abstract

Graft-versus-host disease (GvHD) is the main complication after haematopoietic stem cells transplantation (HSCT) and acute forms (aGvHD) occur in 20-40% of cases even after donor (D) and recipient (R) HLA matching, apparently because of D/R minor histocompatibility antigen (mHA) mismatches and cytokine polymorphisms. The genotype of cytokines and mHA of 77 haematological R following HSCT from HLA identical siblings were determined to detect genetic polymorphisms correlated with GvHD. We analysed TNFA (-863 C/A, -857 C/T and G/A at positions -574, -376, -308, -244, -238), IL-10 (-1082 G/A, -819 C/A, -592 C/T), IL-1B (T/C +3953), IL-1RA (VNTR), HA-1 (H/R allele) and CD-31 (C/G at codon 125, A/G at codon 563). Allele frequencies were in Hardy-Weinberg equilibrium and similar to those of 77 healthy controls. We observed positive correlations between a lower risk of clinically significant aGvHD and both the presence of -1082G -819C -592C IL-10 haplotype when both R and D are considered together and the absence of R IL-1RA allele 2. Furthermore, we observed an association between the absence of TNF-A -238 A allele and the risk of extensive chronic GvHD. mHA and cytokines genotyping would thus seem a valid source of information for the prior identification of recipients with a higher risk of aGvHD.

Published
2006

24. Analysis of the turin umbilical cord blood bank registry.

Author

Rendine S, Curtoni ES, Francia de Celle P, Berrino M, Barbanti M, Saracco P, Fazio L, Gay E, Dall'Omo AM, Rendine, S, Curtoni, E S, di Celle, P F, Berrino, M, Bertola, L, Barbanti, M, Saracco, P, Fazio, L, Gay, E, and Dall'Omo, A M

Published
2000

27. HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 INFECTION AND BREAST-MILK

Author

The Italian Register for HIV Infection in Children Coordinators: De Martino, Tovo, M, Partecipants:, Galli, Gabiano, L, Caramia, C, G, De Mattia, D, Santis, De, Ruggeri, U, Zaniboni, M, Masi, Mg, Dell'Erba, M, Dallacasa, G, Baldi, P, Eisenstecken, F, Soresina, M, Bresciani, A, Quarta, E, Dessì, G, Corrias, C, Chiappe, A, Ibba, F, P, Gregorio, Di, Sciotto, F, Tarallo, A, Lauria, L, Sticca, F, Berrino, M, Lusardi, R, Cocchi, P, Vierucci, P, Bassetti, A, Boeri, D, E, Risso, E, Forni, L, Tondo, U, Micheletti, E, Gamberetto, G, Meo, A, Clerici, Schoeller, Magni, M, Marchisio, La, Zuccotti, P, Simoni, Gv, Giovannello, L, Ferraris, A, Altobelli, G, Mazzoni, R, Cellini, Pl, Ciccimarra, M, Esposito, F, Guarino, L, Bona, A, Giordano, G, Giaquinto, S, Portelli, C, Benaglia, V, Caselli, G, Busti, D, and Consolini, Rita

Published
1994

29. HLA class II gene frequencies in Italy

Author

antonio amoroso, Mazzola, G., Berrino, M., Canale, L., Borelli, I., Dall Omo, A. M., Tacconella, M., Fasano, M. E., Praticò, L., and Piana, L.

Subjects
Epitopes, Gene Frequency, HLA-DQ Antigens, HLA-DR Antigens, Humans, Italy, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Restriction Fragment Length, Genetic, Polymorphism
Abstract

The frequency of HLA alleles at HLA-DR and DQ loci, and that of the related HLA-D specificities, were estimated in the Italian population. 109 healthy unrelated subjects, born in several Italian regions and living in the district of Torino, were studied. DNA typing was achieved by the restriction fragment length polymorphism (RFLP) analysis of HLA-DR beta, DQ alpha and beta genes, hybridizing specific probes with TaqI digested DNAs. The present study allowed to define in more detail the HLA class II polymorphisms in the Italian population.

Published
1991

32. Brief report. Polymorphisms in angiotensin-converting enzyme gene and severity of renal disease in Henoch-Schoenlein patients.

Author

Amoroso, A, Danek, G, Vatta, S, Crovella, S, Berrino, M, Guarrera, S, Fasano, ME, Mazzola, G, Amore, A, Gianoglio, B, Peruzzi, L, and Coppo, R

Abstract

Background.The influence of angiotensin converting enzyme (ACE) gene polymorphism on the progression of primary IgA nephropathy (pIgAN) is still debated. Even though the allele frequency was reported to be similar to controls, in some studies D/D patients had a faster decline of renal function and need of dialysis. Since Henoch-Schoenlein purpura (HSP) nephritis is considered a systemic vasculitis with renal lesions indistinguishable from pIgAN, we investigated the effect of the ACE polymorphism on presentation and progression of HSP IgAN. [ABSTRACT FROM PUBLISHER]

Published
1998
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34. Brief report. Polymorphisms in angiotensin-converting enzyme gene and severity of renal disease in Henoch-Schoenlein patients

Author

Gianoglio, B., Amoroso, A., Peruzzi, L., Danek, G., Coppo, R., Vatta, S., Crovella, S., Berrino, M., Guarrera, S., Fasano, M., Mazzola, G., and Amore, A.

Abstract

Background.The influence of angiotensin converting enzyme (ACE) gene polymorphism on the progression of primary IgA nephropathy (pIgAN) is still debated. Even though the allele frequency was reported to be similar to controls, in some studies D/D patients had a faster decline of renal function and need of dialysis. Since Henoch-Schoenlein purpura (HSP) nephritis is considered a systemic vasculitis with renal lesions indistinguishable from pIgAN, we investigated the effect of the ACE polymorphism on presentation and progression of HSP IgAN.
Methods.We examined the insertion (I) and deletion (D) polymorphism in intron 16 of ACE gene by PCR amplification of genomic DNA of 82 patients (37 children), with biopsy-proven IgAN associated with HSP enrolled in a collaborative study.
Results.No significant association with clinical presentation at onset or with final outcome was found (functional impairment at outcome in 31.8% D/D, 27.4% I/D, and 11.1% I/I). Patients homozygous for the D allele had a greater number of extrarenal relapses (P=0.0028). No association was found between the ACE genotype and the presence of hypertension at onset and at the end of the follow-up. No difference was found between adults and children.
Conclusions.In this cohort of HSP IgAN, no ACE I/D polymorphisms were found to be associated with progressive deterioration of renal function. Different genes possibly involved in vasculitis might more strictly modulate expression and evolution HSP/IgAN/
Keywords:ACE; DNA polymorphism; Henoch-Schoenlein purpura; PCR

Published
1998

47. Polymorphism at codon 54 of mannose-binding protein gene influences AIDS progression but not HIV infection in exposed children

Author

Cristina Serra, Antonio Amoroso, Gabriella Scarlatti, Pier-Angelo Tovo, Michele Boniotto, E. Palomba, M. Berrino, Sergio Crovella, Serena Vatta, Amoroso, A, Berrino, M, Boniotto, M, Crovella, Sergio, Palomba, E, Scarlatti, G, Serra, C, Tovo, Pa, and Vatta, S.

Subjects
Immunology, HIV Infections, Biology, Polymerase Chain Reaction, Acquired immunodeficiency syndrome (AIDS), Immunopathology, medicine, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Sida, Child, Codon, Gene, Alleles, Mannan-binding lectin, Acquired Immunodeficiency Syndrome, Polymorphism, Genetic, Binding protein, Acute-phase protein, Infant, biology.organism_classification, medicine.disease, Virology, Collectins, Infectious Diseases, Child, Preschool, Disease Progression, Viral disease, Carrier Proteins, Mannose
Published
1999

48. Are HLA class II and immunoglobulin constant region genes involved in the pathogenesis of mixed cryoglobulinemia type II after hepatitis C virus infection?

Author

M. Berrino, Simonetta Guarrera, Massimo Clementi, Francesco Scolari, Matti Sällberg, Silvana Savoldi, Antonio Amoroso, Armando Gabrielli, M. Cornaglia, Gina Mazzola, L. Canale, Amoroso, A, Berrino, M, Canale, L, Cornaglia, M, Guarrera, S, Mazzola, G, Savoldi, S, Scolari, F, Sallberg, M, Clementi, Massimo, and Gabrielli, A.

Subjects
Adult, Male, Hepatitis C virus, Immunogenetics, Human leukocyte antigen, Hepacivirus, Biology, medicine.disease_cause, Cryoglobulins, Liver disease, Viral Proteins, Gene Frequency, hemic and lymphatic diseases, HLA-DQ Antigens, IGHC, medicine, Genetics, Humans, HLA, Mixed cryoglobulinemia, Aged, Hepatology, Histocompatibility Antigens Class II, Hepatitis C, HLA-DR Antigens, Middle Aged, medicine.disease, Virology, Immunoglobulin Switch Region, Cryoglobulinemia, Immunology, Immunoglobulin heavy chain, Female, Restriction fragment length polymorphism, Immunoglobulin Constant Regions, Immunoglobulin Heavy Chains, Polymorphism, Restriction Fragment Length
Abstract

Background/Aims: Hepatitis C virus infection is known to play an important role in the pathogenesis of essential mixed cryoglobulinemia type II. Progression of hepatitis C virus infection to mixed cryoglobulinemia may be influenced by host immune response. To analyze the immunogenetic background of mixed cryoglobulinemia, we studied HLA-DR, DQ loci and the switch regions of immunoglobulin heavy chain γ1 and γ4 constant genes. Methods: HLA typing was performed in 84 hepatitis C virus-infected patients (46 with cryoglobulins and 38 without), and 109 healthy controls, through analysis of restriction fragment length polymorphisms, supplemented with other techniques. Immunoglobulin heavy chain γ1 and γ4 polymorphisms, detected by restriction fragment length polymorphisms, were studied in 41 patients with mixed cryoglobulinemia and 51 controls. Results: The gene frequency of DRB1 * 11 was significantly higher in patients with mixed cryoglobulinemia than in controls (0.36 and 0.20, respectively; p =0.0035). However, DRB1 * 11 was also increased in the subgroup of patients without mixed cryoglobulinemia who did not develop severe liver disease, while it was decreased in those with severe liver damage (0.50 and 0.13; p =0.0035). The frequency of 5.4 kb allele of the immunoglobulin heavy chain γ1 switch region was higher in patients with mixed cryoglobulinemia than in controls (0.47 and 0.22; p c =0.002), while the frequency of 5.5 kb allele was lower (0.51 and 0.78; p c =0.001). Conclusions: Susceptibility to develop cryoglobulins after hepatitis C virus infection was not associated with HLA-DR or DQ. HLA-DRB1 * 11-positive individuals were protected from serious chronic liver disease after hepatitis C virus infection. Immunoglobulin heavy chain constant γ1 switch region restriction fragment length polymorphisms were associated with mixed cryoglobulinemia.

Published
1998

49. Donor-derived acute myeloid leukemia in solid organ transplantation.

Author

Marchionni L, Lobo FP, Kostadinov R, Serra A, Besso FG, Deaglio S, Stratta P, Berrino M, Zanettini C, Imada EL, Omar MN, Gaidano G, Bruno B, Saglio G, and Amoroso A

Subjects
Humans, Mutation, Nuclear Proteins genetics, Nucleophosmin, Tissue Donors, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute therapy, Organ Transplantation adverse effects
Abstract

We report the transmission of acute myeloid leukemia (AML) undetected at donation from a deceased organ donor to two kidneys and one liver recipients. We reviewed the medical records, and performed molecular analyses and whole exome sequencing (WES) to ascertain AML donor origin and its molecular evolution. The liver recipient was diagnosed 11 months after transplantation and died from complications 2 months later. The two kidney recipients (R1 and R2) were diagnosed 19 and 20 months after transplantation and both received treatment for leukemia. R1 died of complications 11 months after diagnosis, while R2 went into complete remission for 44 months, before relapsing. R2 died 10 months later of complications from allogenic bone marrow transplantation. Microsatellite analysis demonstrated donor chimerism in circulating cells from both kidney recipients. Targeted molecular analyses and medical records revealed NPM1 mutation present in the donor and recipients, while FLT3 was mutated only in R1. These findings were confirmed by WES, which revealed additional founder and clonal mutations, and HLA genomic loss in R2. In conclusion, we report the first in-depth genomic analysis of AML transmission following solid organ transplantation, revealing distinct clonal evolution, and providing a potential molecular explanation for tumor escape., (© 2022 The American Society of Transplantation and the American Society of Transplant Surgeons.)

Published
2022
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50. Genetic heterogeneity by age at onset of Type I diabetes: higher prevalence of patients with 0 susceptible heterodimers in adults than in children in the registry of Turin, Italy.

Author

Bruno G, Arcari R, Pagano A, Cerutti F, Berrino M, and Pagano G

Subjects
Adult, Age of Onset, Child, Dimerization, Genotype, HLA-DQ alpha-Chains, HLA-DQ beta-Chains, Humans, Italy, Registries, Diabetes Mellitus, Type 1 genetics, Diabetes Mellitus, Type 1 immunology, HLA-DQ Antigens genetics
Published
2000
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