Partecipazione a Congressi
International Congress of Porphyrins and Porphyrias
Pamplona, 21-25 settembre 2024
Presentazioni Orali
Long-Term Clinical Outcomes Of Patients With Acute Hepatic Porphyria Who Were Not Attack-Free After 6 Months Of Givosiran Treatment: A Subgroup Analysis Of The Phase 3 Envision Study.
Paolo Ventura, Encarna Guillen-Navarro, Bruce Wang, Weiming Du, Ana Camejo, Manish Thapar
Phlebotomy And Afamelanotide As An Efficient Combined Treatment Of Hepatoerythropoietic Porphyria.
Luca Barbieri, Michele De Canio, Caterina Aurizi, Miriam Teoli
Potential Causes Of Dysregulated Homocysteine Metabolism In Patients Affected By Acute Intermittent Porphyria.
Elena Di Pierro, Lorena Duca, Francesca Granata, Francesca Grande, Valeria Di Stefano, Giacomo De Luca, Paolo Ventura, Giovanna Graziadei
Dietary Interventions Targeting Glucose Metabolism And Hyperinsulinemia: A New Translational Perspective For The Management Of Patients With Acute Intermittent Porphyria.
Miriam Longo, Teresa Rubio, Araceli Lamelas, Daniel Jericó, Jordi Cervero, Juan Martínez-Blanch, Empar Chenoll, Erika Paolini, Karol M Córdoba, Marica Meroni, José Ignacio Riezu-Boj, Raquel Urtasun, Isabel Solares, Ana Sampedro, Francesco Urigo, María Collantes, Michele Battistin, Stefano Gatti, Ivan Peñuelas, María Jesús Moreno-Aliaga, Matías A Ávila, Elena Di Pierro, Miguel Barajas, Daniel Ramon, Fermín I Milagro, Paola Dongiovanni, Antonio Fontanellas
Nutritional Assessment And Body Composition In Acute Intermittent Porphyria (AIP) Patients.
Francesca Granata, Luisella Vigna, Elena Di Pierro, Alessandra Piontini, Lorena Duca, Giacomo De Luca, Valeria Di Stefano, Giovanna Graziadei
Liver Function, Iron Status, And Hemopoiesis In Erythropoietic Protoporphyria (EPP): Insights Into A Complex Interplay.
Andrea Ricci, Dario Saltini, Camilla Mancini, Tomas Guasconi, Giada Di Betto, Cinzia Garuti, Stefano Marchini, Filippo Schepis, Antonello Pietrangelo, Elena Corradini, Paolo Ventura
Quantitative Analysis Of Poly-Unsatured Fatty Acids Profiles In Erythropoietic Protoporphyria.
Michele De Canio, Stefania Briganti, Caterina Aurizi, Miriam Teoli, Anna Di Nardo, Luca Barbieri
Posters
Fairness Of Funding Decisions Of Innovative Therapies For The Porphyrias In England And Wales: Comparison Of The Parameters For The Calculation Of Quality-Adjusted Life Years Accepted By The National Institute For Health And Care Excellence.
Jasmin Barman-Aksözen, Nicole Hentschel, Mårten Pettersson, Eva Schupp, Francesca Granata, Cornelia Dechant, Mehmet Hakan Aksözen, Rocco Falchetto
Assessing Disease Impact And Quality Of Life: Insights From A Patient Support Program For Acute Hepatic Porphyria.
Francesca Brambillasca, Paolo Ventura, Annamaria Porreca, Carlo Poci, Annalisa Crisetti, Antonina Giammanco, Matteo Marcacci
Porphyria Registry Padova – Start Up.
Annamaria Nicolli, Mauro Alaibac, Cinzia Bertolin, Isabella Bortoletti, Alberto Gambalunga, Angelo Moretto, Fabiola Pasqualato, Leonardo Salviati, Paolo Simioni, Andrea Trevisan, Carlo Poci
Hereditary Coproporphyria With Cerebral Aneurysms: Successful Diagnosis And Treatment With Givosiran.
Aurora del Mar Pérez Ys, Annalisa Crisetti, Maria Grazia Savino, Maria Nardella, Francesco Aucella, Claudio Carmine Guida, Filippo Aucella
The First Cases Of Δ-Aminolevulinate Dehydratase Porphyria (ADP/Doss Porphyria) In Italy.
Carlo Poci, Mauro Alaibac, Marta Balzarin, Cinzia Bertolin, Isabella Bortoletti, Alessandra Brugiolo, Federica Rachele Danti, Elena Di Pierro, Angelo Moretto, Fabiola Pasqualato, Leonardo Salviati, Paolo Simioni, Andrea Trevisan, Paolo Ventura, Anna Zanin, Annamaria Nicolli
Management Of Hereditary Coproporphyria: A Case Report Of A New Pathogenic Variant, Highlighting The Significance Of Hemin Therapy And Maintenance Treatment Compliance.
Laura Sabina Varela, Viviana Alicia Melito, Ana María Buzaleh, Victoria Estela Parera, Elena Di Pierro
Drugs Stimulating Erythroid Compartment Can Induce Hepatic Damage In Erythropoietic Protoporphyria.
Giovanna Graziadei, Valeria Di Stefano, Bruno Fattizzo, Marta Bortolotti, Valentina Brancaleoni, Francesca Granata, Silvia Fustinoni, Elena Di Pierro
Functional Characterization Of New Pathogenic And Lead-Poisoning Predisposing Variants In Ala Dehydratase Porphyria (ADP).
Elena Di Pierro, Francisco Javier Castelbón, Isabel Solares, Daniel Jericó, Javier Tomás Solera, Antoni Riera-Mestre, María Barreda, Annamaria Nicolli, Rafael Enríquez de Salamanca, Carlo Poci, Marta Gloria Fanlo-Maresma, Matías A. Ávila, Matteo Marcacci, Encarna Guillén-Navarro, Giovanna Graziadei, Bodo Beck, Paolo Ventura, Montserrat Morales-Conejo, Antonio Fontanellas
(poster premiato)
Increased Pancreatic Enzymes In A Patient With Acute Intermittent Porphyria.
Valeria Di Stefano, Elena Di Pierro, Francesca Granata, Lorena Duca, Dario Tavazzi, Maria Domenica Cappellini, Giovanna Graziadei
Portal Hypertension In Advanced Protoporphyric Hepatopathy: A Case Report.
Andrea Ricci, Dario Saltini, Camilla Mancini, Giada Di Betto, Stefano Marchini, Marcello Bianchini, Filippo Schepis, Antonello Pietrangelo, Elena Corradini, Paolo Ventura
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The International Liver Congress – EASL
Vienna, 10-14 Aprile 2019
Presentazioni Orali
ENVISION, a Phase 3 Study to Evaluate the Efficacy and Safety of Givosiran, an Investigational RNAi Therapeutic Targeting Aminolevulinic Acid Synthase 1, in Acute Hepatic Porphyria Patients
Balwani M, Gouya L, Rees DC, Stein P, Stölzel U, Aguilera Peiro P, Bissell DM, Bonkovsky HL, Keel S, Parker C, Phillips JD, Silver S, Windyga J, D’Avola D, Ross G, Stewart P, Ritchie B, Oh J, Harper P, Wang JD, Langendonk JG, Ivanova A, Horie, Y, Anderson KE, Ventura P, Chan A, Penz C, Simon A, Kim J, Dinh Q, Liu G, Garg P, Vaishnaw A, and Sardh E
Posters
Management of Recurrent Acute Hepatic Porphyria (AHP) Attacks in Europe and the United States:
EXPLORE International, Prospective, Natural History Study
Sardh E, Balwani M, Gouya L, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder E, Windyga J, Martasek P, Cappellini M, Ventura P, Harper P, Sandberg S, Aarsand AK, Alegre F, Ivanova A, Talbi N, Ko JJ, Cahana-Amitay D, Chan A, Dinh Q, Penz C, Simon A, Lin T, Anderson KE
Disease Manifestations of Patients with Recurrent Acute Hepatic Porphyria (AHP) and Daily Life Impacts
in EXPLORE International, Prospective, Natural History Study
Ventura P, Gouya L, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder E, Windyga J, Martasek P, Cappellini M, Sardh E, Harper P, Sandberg S, Aarsand AK, Alegre F, Ivanova A, Talbi N, Ko JJ, Cahana-Amitay D, Chan A, Dinh Q, Penz C, Simon A, Lin T, Anderson KE
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3rd Italian EPP Expert Meeting
Firenze – 5 Aprile 2019
Presentazioni Orali
La Protoporfiria Eritropoietica in Italia: Dati Epidemiologici
Dott. Paolo Ventura
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119° Congresso Nazionale Società Italiana Di Medicina Interna
Roma – 26-28 Ottobre 2018
Presentazioni Orali
The Porphyrias In Italy: The First Epidemiological Report – From Gruppo Italiano Porfiria (Grip) Registry
P. Ventura, M. Cappellini, A. Macrì, C. Guida, A. Nicolli, , M. Rossi, E. Di Pierro, V. Brancaleoni, F. Granata, V. Fiorentino, S. Fustinoni, R. Sala, P.G Calzavara-Pinton, A. Trevisan, S. Marchini, C. Cuoghi, M. Marcacci, A. Pietrangelo, F. Sorge, C. Aurizi, M.G. Savino (Gruppo Italiano Porfiria)
Porfirie: Come Riconoscerle e Trattarle
Dott. Matteo Marcacci
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Riunione Progetto Porfiria – Società Italiana Di Medicina Interna
Roma – 12-13 Giugno 2018
Presentazioni Orali
Le Porfirie: Aspetti Generali, Epidemiologia e Focus sulle Porfirie Acute
Dott. Paolo Ventura
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Incontro con i Porfirici del Veneto
Padova – 14 Aprile 2018
Presentazione del Gruppo Italiano Porfiria (GrIP)
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Incontro di Aggiornamento ECM – Il Pronto Soccorso e le Malattie Rare
Firenze – 4 Dicembre 2017
Presentazioni Orali
Attacco Porfirico Acuto: Fisiopatologia, Diagnosi e Terapia
Dott. Paolo Ventura
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118° Congresso Nazionale Società Italiana Di Medicina Interna
Roma – 27-29 Ottobre 2017
Presentazioni Orali
Poor Vitamin Status In Patients With Symptomatic Acute Porphyrias: A Reliable Target For Treatment Of Symptomatic Patients ?
Ventura P, Marcacci M, Marchini S, Cuoghi C, Vaccari D, Pietrangelo A
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XVIII congresso nazionale Società Italiana Genetica Umana – SIGU
Rimini, 21-24 ottobre 2015
Posters
Molecular Characterisation of Erythropoietic Protoporphyria in Northern Italy
Brancaleoni V., Granata F., Fiorentino V., Graziadei G., Di Pierro E
Phenotype Variability of Congenital Erythropoietic Porphyria in Turkey
Granata F., Uyanik M., Sertoglu E., Tapan S., Kurt I., Brancaleoni V., Di Pierro E
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International Congress On Porphyrins And Porphyrias
Sept 14th – Sept 16th 2015, Düsseldorf, Germany
Presentazioni Orali
Characterisation of the functional role of variants within the regulatory regions of UROD and CPOX genes
V. Fiorentino, V. Brancaleoni, F. Granata, G. Graziadei, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda and Università degli Studi di Milano, Italy
Markers of endothelial dysfunction in patients with acute porphyrias
P. Ventura, M. Marcacci, C. Cuoghi, S. Marchini, E. Di Pierro, V. Brancaleoni, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with multiple recurring attacks
A. Simon, K. Anderson, J. Bloomer, M. Balwani, M. Bissell, D. Rees, U. Stolzel, J. Phillips, R. Kauppinen, J. Langendonk, P. Ventura, E. Minder, P. Stein, C. Parker, R. Desnick, A. Chan, B. Bettencourt, W. Querbes, C. Penz
Clinical Alnylam Pharmaceuticals, Cambridge, USA
Posters
Tetraplegia in acute intermittent Porphyria undergoing chronic Hemodialysis: Resolution with rehabilitation
C. C. Guida, M. Savino, D. Intiso, F. Aucella
Hospital Scientifi c Institute for Research an Health Care, Foggia, Italy
Molecular Characterisation of Erytropoietic Protoporphyria in Northern Italy
V. Brancaleoni, F. Granata, V. Fiorentino, G. Graziadei, D. Spinelli, S. Fustinoni, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda and Universita degli Studi di Milano, Milano, Italy
Phenotype Variability of Congenital Erythropoietic Porphyria in Turkey
V. Brancaleoni, M. Uyanik, E. Sertoglu, S. Tapan, I. Kurt, Md. Cappellini, E. Di Pierro
Fondazione IRCCS Ca Granda, Milano, Italy and Corlu Military Hospital Tekirdag, Turkey
Fast Fluorometric Quantification of Protoporphyrin IX in Plasma
F. Granata, D. Tavazzi, P. Missineo, S. Fustinoni, D. Spinelli, Md. Cappellini, E. Di Pierro
Fondatione IRCCS Ca Granda and Universita degli Studi di Milano, Italy
Association Studies: Low Resolution HLA in a Group of Patients with Porphyria
M. Savino, G. Cappucci, C. C. Guida, L. Di Mauro
Dept. of Transfusion Med. and Analysis Lab., Scientifi c Inst. for Research and Health Care-CSS, San Giovanni Rotondo, Italy
Acute intermittent Porphyria in children: Still hard to diagnose, but still harder to manage
P. Ventura, C. Rosafio, S. Marchini, A. Guerra, F. Granata, E. Di Pierro, L. Lughetti, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
Hyperhomocysteinemia and Acute Porphyrias: A Dangerous Metabolic Crossing?
P. Ventura, M. Marcacci, C. Cuoghi, S. Marchini, E Di Pierro, M. Rimini, A. Pietrangelo
Dept. of Med. and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy