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23. Risk for chronic kidney disease in the general population italian reports for the the world kiney days 2007-2009

Author

Galassi, A, Brancaccio, D, Andreucci, Ve, Andreucci, M, Caglioti, A, Faga, T, Mazzitello, G, Antonelli, A, Carlini, A, Giusti, R, Rosati, A, Apperti, V, Auricchio, Mr, Avella, F, Barbato, A, Romano, P, Barzaghi, B, Bedani, Pl, Bellinghieri, G, Costantino, G, Bernardi, A, Bolasco, P, Ferrara, R, Pani, A, Bonomini, M, Busnach, G, Conte, F, Limido, A, Messa, Pg, Sinico, Ra, Spotti, D, Cadinu, F, Campieri, C, Capuano, M, Terribile, M, Cardone, F, Paglia, S, Castellino, P, Di Landro, D, Fatuzzo, P, Liuzzo, G, Sicurezza, E, Casu, Md, Centrone, E, Ciofani, A, Cossu, M, D'Amaro, E, D'Apice, L, Dal Canton, A, Fasoli, G, De Ferrari, G, Cappelli, Gianni, Gusmano, R, De Simone, W, Delgado, G, Di Iorio, B, Di Luca, M, Di Natale, E, Farfaglia, P, Cantú, P, Feriozzi, S, Galeotti, P, Fiorini, F, Frascà, Gm, Gallucci, M, Buongiorno, E, Gesualdo, L, Giannattasio, M, Detomaso, F, Giannetto, M, Gianni, S, Giliberti, A, Grassi, C, Lupi, Gp, Imperiali, P, Juliano, P, Li Vecchi, M, Lucenti, T, Maffucci, G, Anelli, Am, Manno, M, Schena, Fp, Mazzaferro, S, Migliorati, M, Morrone, L, Mura, M, Petrarulo, F, Pizzarelli, F, Ricciardi, B, Riccobene, G, Rondanini, V, Russo, D, Sasdelli, M, Mura, C, Scarpino, L, Selvi, S, Tarchini, R, Tedesco, A, Timio, F, Traversari, L, Venditti, G, Viganò, S, Locatelli, F., Galassi, A., Andreucci, M, Caglioti, A., Faga, T., Mazzitello, G., Antonelli, A., Carlini, A., Giusti, R., Rosati, A., Apperti, V., Auricchio, M. R., Avella, F., Barbato, A., Romano, P., Barzaghi, B., Bedani, P. L., Bellinghieri, G., Costantino, G., Bernardi, A., Bolasco, P., Ferrara, R., Pani, A., Bonomini, M., Brancaccio, D., Busnach, G., Conte, F., Limido, A., Messa, P. G., Sinico, R. A., Spotti, D., Cadinu, F., Campieri, C., Capuano, M., Terribile, M., Cardone, F., Paglia, S., Castellino, P., Di Landro, D., Fatuzzo, P., Liuzzo, G., Sicurezza, E., Casu, M. D., Centrone, E., Ciofani, A., Cossu, M., D'Amaro, E., D'Apice, L., Dal Canton, A., Fasoli, G., De Ferrari, G., Cappelli, G., Gusmano, R., De Simone, W., Delgado, G., Di Iorio, B., Di Luca, M., Di Natale, E., Farfaglia, P., Cantù, P., Feriozzi, S., Galeotti, P., Fiorini, F., Frascà, G. M., Gallucci, M., Buongiorno, E., Gesualdo, L., Giannattasio, M., Detomaso, F., Giannetto, M., Gianni, S., Giliberti, A., Grassi, C., Lupi, G. P., Imperiali, P., Juliano, P., Li Vecchi, M., Lucenti, T., Maffucci, G., Anelli, A. M., Manno, M., Schena, F. P., Mazzaferro, S., Migliorati, M., Morrone, L., Mura, M., Petrarulo, F., Pizzarelli, F., Ricciardi, B., Riccobene, G., Rondanini, V., Russo, Domenico, Sasdelli, M., Mura, C., Scarpino, L., Selvi, S., Tarchini, R., Tedesco, A., Timio, M., Traversari, L., Venditti, G., Viganò, S., Locatelli, F., Galassi, A, Caglioti, A, Faga, T, Mazzitello, G, Antonelli, A, Carlini, A, Giusti, R, Rosati, A, Apperti, V, Auricchio, M, Avella, F, Barbato, A, Romano, P, Barzaghi, B, Bedani, P, Bellinghieri, G, Costantino, G, Bernardi, A, Bolasco, P, Ferrara, R, Pani, A, Bonomini, M, Brancaccio, D, Busnach, G, Conte, F, Limido, A, Messa, P, Sinico, R, Spotti, D, Cadinu, F, Campieri, C, Capuano, M, Terribile, M, Cardone, F, Paglia, S, Castellino, P, Di Landro, D, Fatuzzo, P, Liuzzo, G, Sicurezza, E, Casu, M, Centrone, E, Ciofani, A, Cossu, M, D'Amaro, E, D'Apice, L, Dal Canton, A, Fasoli, G, De Ferrari, G, Cappelli, G, Gusmano, R, De Simone, W, Delgado, G, Di Iorio, B, Di Luca, M, Di Natale, E, Farfaglia, P, Cantù, P, Feriozzi, S, Galeotti, P, Fiorini, F, Frascà, G, Gallucci, M, Buongiorno, E, Gesualdo, L, Giannattasio, M, Detomaso, F, Giannetto, M, Gianni, S, Giliberti, A, Grassi, C, Lupi, G, Imperiali, P, Juliano, P, Li Vecchi, M, Lucenti, T, Maffucci, G, Anelli, A, Manno, M, Schena, F, Mazzaferro, S, Migliorati, M, Morrone, L, Mura, M, Petrarulo, F, Pizzarelli, F, Ricciardi, B, Riccobene, G, Rondanini, V, Russo, D, Sasdelli, M, Mura, C, Scarpino, L, Selvi, S, Tarchini, R, Tedesco, A, Timio, M, Traversari, L, Venditti, G, Viganò, S, and Locatelli, F

Subjects
Proteinuria, Time Factors, Italy, Risk Factors, Nephrology, Chronic Disease, Diabetic Nephropathies/etiology, Hypertension, Humans, Diabetic Nephropathies, Kidney Diseases
Published
2010

26. alpha 1-Antitrypsin (AAT) deficiency and ANCA-positive systemic vasculitis: genetic and clinical implications

Author

Callea, F, Gregorini, G, Sinico, R, Consalez, G, Gonzales, G, Bossolasco, M, Salvidio, G, Radice, A, Tira, P, Candiano, G, Rossi, G, Petti, A, Ravera, G, Ghiggeri, G, Gusmano, R, Gusmano, R., SINICO, RENATO ALBERTO, Callea, F, Gregorini, G, Sinico, R, Consalez, G, Gonzales, G, Bossolasco, M, Salvidio, G, Radice, A, Tira, P, Candiano, G, Rossi, G, Petti, A, Ravera, G, Ghiggeri, G, Gusmano, R, Gusmano, R., and SINICO, RENATO ALBERTO

Abstract

A high incidence of alpha 1-antitrypsin (AAT) deficiency has been reported in patients with C-ANCA systemic vasculitis in association with antibodies against proteinase-3 (PR3). To clarify the role of AAT deficiency in the acute vasculitic process as well as in progression of the disease, we studied 84 patients with either C-ANCA or P-ANCA vasculitis with special reference to: (a) the AAT gene, (b) the phenotypic (Pi) variants and (c) the serum levels during both acute illness and remission. The PiZ gene was found in six patients (8% vs. 1.5% controls) irrespective of the type of autoantibodies (C-ANCA vs. P-ANCA). All PiZ patients displayed the ability to raise their AAT serum levels up to the normal range during acute illness. In contrast, 24 patients with the PiM phenotype presented low AAT serum levels during acute illness. In all these patients, the AAT levels returned to normal values during the remission. Low AAT levels were associated with low levels of C-reactive protein (PCR) (P < 0.001), with a less severe renal involvement or a minor risk of death, and, in one tested patient, with a novel point mutation (TCGA-->TCAA) at the enhancer-promoter region of the AAT gene. Low AAT serum levels did not correlate with either type/titre of autoantibody or distribution/severity of the vasculitis process. In the case-control study, high AAT levels emerged as a major determinant of progression towards end-stage renal failure [odds ratio 3 (95% CI 1.1-8.4)]. These results indicate: (a) a high incidence of the PiZ gene of AAT in systemic vasculitis irrespective of the type of autoantibodies; (b) a novel form of AAT deficiency associated with the normal PiM phenotype becoming manifest only during acute illness; (c) dysregulation of the acute-phase response affecting selectively AAT or both AAT and PCR; (d) correlation between low plasma levels of AAT and less severe renal involvement or risk of death

Published
1997

29. Mesenchymal stem cells protective effect in adriamycin model of nephropathy

Author

Magnasco, A., Corselli, M., Bertelli, R., Ibatici, A., Peresi, M., Gaggero, G., Cappiello, V., Chiavarina, B., Mattioli, Girolamo, Gusmano, R., Ravetti, J. L., Frassoni, F., and Ghiggeri, G. M.

Subjects
Male, Cultured, Animal, Podocytes, Cells, Mesenchymal Stem Cells, Mesenchymal Stem Cell Transplantation, Antineoplastic, Rats, drug effects/physiology, chemically induced/pathology/therapy, Antibiotics, Cell Movement, Cytoprotection, Doxorubicin, Animals, Antibiotics, Antineoplastic, Cell Movement, physiology, Cells, Cultured, Chronic Disease, Cytoprotection, physiology, Disease Models, Animal, Doxorubicin, Humans, Kidney Diseases, chemically induced/pathology/therapy, Male, Mesenchymal Stem Cell Transplantation, Mesenchymal Stem Cells, physiology, Podocytes, drug effects/physiology, Rats, Rats, Sprague-Dawley, physiology, Chronic Disease, Disease Models, Animals, Humans, Kidney Diseases
Published
2008

30. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene

Author

Alessandra Renieri, Bruttini, M., Galli, L., Zanelli, P., Neri, T., Rossetti, S., Turco, A., Heiskari, N., Zhou, J., Gusmano, R., Massella, L., Banfi, G., Scolari, F., Sessa, A., Rizzoni, G., Tryggvason, K., Pignatti, P. F., Savi, M., Ballabio, A., Marchi, M., Renieri, A, Bruttini, M, Galli, L, Zanelli, P, Neri, T, Rossetti, S, Turco, A, Heiskari, N, Zhou, J, Gusmano, R, Massella, L, Banfi, G, Scolari, F, Sessa, A, Rizzoni, G, Tryggvason, K, Pignatti, P. F., Savi, M, Ballabio, Andrea, and DE MARCHI, M.

Subjects
Adult, Male, X Chromosome, Macromolecular Substances, Protein Conformation, Molecular Sequence Data, COL4A5 gene, Glycine, Nephritis, Hereditary, Alport syndrome, SSCP, COL4A5, genotype-phenotype correlation, type IV collagen, molecular diagnosis, Humans, Point Mutation, Amino Acid Sequence, Age of Onset, Codon, Frameshift Mutation, Polymorphism, Single-Stranded Conformational, DNA Primers, Sequence Deletion, Gene Rearrangement, Base Sequence, Exons, Mutation, DNA Transposable Elements, Kidney Failure, Chronic, Female, Collagen, Research Article
Abstract

The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18 small mutations identified in the same patient series by SSCP analysis of several exons. After systematic analysis of all 51 exons of COL4A5, we have now identified 30 different mutations: 10 glycine substitutions in the triple helical domain of the protein, 9 frameshift mutations, 4 in-frame deletions, 1 start codon, 1 nonsense, and 5 splice-site mutations. These mutations were either unique or found in two unrelated families, thus excluding the presence of a common mutation in the coding part of the gene. Overall, mutations were detected in only 45% of individuals with a certain or likely diagnosis of X-linked AS. This finding suggests that mutations in noncoding segments of COL4A5 account for a high number of X-linked AS cases. An alternative hypothesis is the presence of locus heterogeneity, even within the X-linked form of the disease. A genotype/phenotype comparison enabled us to better substantiate a significant correlation between the degree of predicted disruption of the alpha5 chain and the severity of phenotype in affected male individuals. Our study has significant implications in the diagnosis and follow-up of AS patients.

Published
1996

31. Pharmacokinetics of oral cyclosporine microemulsion formulation (neoral) in children awaiting renal transplantation

Author

Gusmano R, F Ginevri, Perfumo F, E Verrina, G. Basile, L Famularo, and G Corbetta

Subjects
Adolescent, Waiting Lists, Administration, Oral, Dosage form, Pharmacokinetics, Renal Dialysis, Oral administration, Humans, Medicine, Child, Transplantation, Kidney, business.industry, Infant, Cyclosporine microemulsion, Ciclosporin, Kidney Transplantation, medicine.anatomical_structure, Child, Preschool, Anesthesia, Cyclosporine, Kidney Failure, Chronic, Emulsions, Surgery, business, Peritoneal Dialysis, Immunosuppressive Agents, medicine.drug
Published
1998
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32. Tubular Proteinuria in Diabetic Children

Author

Ginevri, F., primary, Picotti, E., additional, Alinovi, R., additional, DeToni, T., additional, Bocchi, C. M., additional, Mazzarello, I., additional, Perfumo, F., additional, Ghiggeri, G. M., additional, and Gusmano, R., additional

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35. Albumin Charge in Adriamycin Nephrosis

Author

Ginevri, F., primary, Ghiggeri, G. M., additional, Perfumo, F., additional, Candiano, G., additional, Oleggini, R., additional, Bertelli, R., additional, Piccardo, M. T., additional, and Gusmano, R., additional

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44. Risk for chronic kidney disease in the general population: Italian reports for World Kidney Days 2007-2009

Author

Galassi, A, Andreucci, M, Caglioti, A, Faga, T, Mazzitello, G, Antonelli, A, Carlini, A, Giusti, R, Rosati, A, Apperti, V, Auricchio, M, Avella, F, Barbato, A, Romano, P, Barzaghi, B, Bedani, P, Bellinghieri, G, Costantino, G, Bernardi, A, Bolasco, P, Ferrara, R, Pani, A, Bonomini, M, Brancaccio, D, Busnach, G, Conte, F, Limido, A, Messa, P, Sinico, R, Spotti, D, Cadinu, F, Campieri, C, Capuano, M, Terribile, M, Cardone, F, Paglia, S, Castellino, P, Di Landro, D, Fatuzzo, P, Liuzzo, G, Sicurezza, E, Casu, M, Centrone, E, Ciofani, A, Cossu, M, D'Amaro, E, D'Apice, L, Dal Canton, A, Fasoli, G, De Ferrari, G, Cappelli, G, Gusmano, R, De Simone, W, Delgado, G, Di Iorio, B, Di Luca, M, Di Natale, E, Farfaglia, P, Cantù, P, Feriozzi, S, Galeotti, P, Fiorini, F, Frascà, G, Gallucci, M, Buongiorno, E, Gesualdo, L, Giannattasio, M, Detomaso, F, Giannetto, M, Gianni, S, Giliberti, A, Grassi, C, Lupi, G, Imperiali, P, Juliano, P, Li Vecchi, M, Lucenti, T, Maffucci, G, Anelli, A, Manno, M, Schena, F, Mazzaferro, S, Migliorati, M, Morrone, L, Mura, M, Petrarulo, F, Pizzarelli, F, Ricciardi, B, Riccobene, G, Rondanini, V, Russo, D, Sasdelli, M, Mura, C, Scarpino, L, Selvi, S, Tarchini, R, Tedesco, A, Timio, M, Traversari, L, Venditti, G, Viganò, S, Locatelli, F, SINICO, RENATO ALBERTO, Locatelli, F., Galassi, A, Andreucci, M, Caglioti, A, Faga, T, Mazzitello, G, Antonelli, A, Carlini, A, Giusti, R, Rosati, A, Apperti, V, Auricchio, M, Avella, F, Barbato, A, Romano, P, Barzaghi, B, Bedani, P, Bellinghieri, G, Costantino, G, Bernardi, A, Bolasco, P, Ferrara, R, Pani, A, Bonomini, M, Brancaccio, D, Busnach, G, Conte, F, Limido, A, Messa, P, Sinico, R, Spotti, D, Cadinu, F, Campieri, C, Capuano, M, Terribile, M, Cardone, F, Paglia, S, Castellino, P, Di Landro, D, Fatuzzo, P, Liuzzo, G, Sicurezza, E, Casu, M, Centrone, E, Ciofani, A, Cossu, M, D'Amaro, E, D'Apice, L, Dal Canton, A, Fasoli, G, De Ferrari, G, Cappelli, G, Gusmano, R, De Simone, W, Delgado, G, Di Iorio, B, Di Luca, M, Di Natale, E, Farfaglia, P, Cantù, P, Feriozzi, S, Galeotti, P, Fiorini, F, Frascà, G, Gallucci, M, Buongiorno, E, Gesualdo, L, Giannattasio, M, Detomaso, F, Giannetto, M, Gianni, S, Giliberti, A, Grassi, C, Lupi, G, Imperiali, P, Juliano, P, Li Vecchi, M, Lucenti, T, Maffucci, G, Anelli, A, Manno, M, Schena, F, Mazzaferro, S, Migliorati, M, Morrone, L, Mura, M, Petrarulo, F, Pizzarelli, F, Ricciardi, B, Riccobene, G, Rondanini, V, Russo, D, Sasdelli, M, Mura, C, Scarpino, L, Selvi, S, Tarchini, R, Tedesco, A, Timio, M, Traversari, L, Venditti, G, Viganò, S, Locatelli, F, SINICO, RENATO ALBERTO, and Locatelli, F.

Published
2010

48. Lupus nephritis

Author

Ponticelli, C, Moroni, G, Gusmano, R, Barbano, G, Zucchelli, P, Vendemia, F, Bertani, T, Sinico, R, Di Belgiojoso, G, Bazzi, C, Bazzi, C., SINICO, RENATO ALBERTO, Ponticelli, C, Moroni, G, Gusmano, R, Barbano, G, Zucchelli, P, Vendemia, F, Bertani, T, Sinico, R, Di Belgiojoso, G, Bazzi, C, Bazzi, C., and SINICO, RENATO ALBERTO

Published
2000

49. Autoreactive lymphocytotoxic IgM antibodies in highly sensitized dialysis patients waiting for a kidney transplant: identification and clinical relevance

Author

Barocci, S., Valente, Umberto, Gusmano, R., Perfumo, F., Cantarella, S., Leprini, A., Icardi, A., and Nocera, A.

Subjects
Adult, Male, Histocompatibility Testing, Middle Aged, Adult, Antilymphocyte Serum, immunology, Blood Transfusion, Cytotoxicity Tests, Immunologic, Dithiothreitol, therapeutic use, Female, Histocompatibility Testing, Humans, Immunoglobulin M, immunology, Kidney Failure, Chronic, immunology/therapy, Kidney Transplantation, Male, Middle Aged, Renal Dialysis, Kidney Transplantation, immunology/therapy, immunology, Kidney Failure, Dithiothreitol, Immunoglobulin M, Immunologic, Renal Dialysis, therapeutic use, Humans, Blood Transfusion, Female, Antilymphocyte Serum, Cytotoxicity Tests
Published
1991

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