Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility

Autor: Shadi Basyuni, Laura Heskin, Andrea Degasperi, Daniella Black, Gene C. C. Koh, Lucia Chmelova, Giuseppe Rinaldi, Steven Bell, Louise Grybowicz, Greg Elgar, Yasin Memari, Pauline Robbe, Zoya Kingsbury, Carlos Caldas, Jean Abraham, Anna Schuh, Louise Jones, PARTNER Trial Group, Personalised Breast Cancer Program Group, Marc Tischkowitz, Matthew A. Brown, Helen R. Davies, Serena Nik-Zainal

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

Abstract Whole genome sequencing (WGS) provides comprehensive, individualised cancer genomic information. However, routine tumour biopsies are formalin-fixed and paraffin-embedded (FFPE), damaging DNA, historically limiting their use in WGS. Here we

Externí odkaz: https://doaj.org/article/1788544aae364aa680930fe83e4b04ab

A holistic evaluation of patients with chronic Hepatitis D virus (HDV) infection enrolled in the Italian PITER-B and delta cohort

Autor: Loreta A. Kondili, Giuseppina Brancaccio, Maria Elena Tosti, Barbara Coco, Maria Giovanna Quaranta, Vincenzo Messina, Alessia Ciancio, Filomena Morisco, Valentina Cossiga, Ernesto Claar, Valerio Rosato, Marianna Ciarallo, Irene Cacciola, Francesca Romana Ponziani, Lucia Cerrito, Roberta Coppola, Francesco Longobardi, Elisa Biliotti, Alessia Rianda, Francesco Barbaro, Nicola Coppola, Maria Stanzione, Francesco Barchiesi, Stefano Fagiuoli, Mauro Viganò, Marco Massari, Francesco Paolo Russo, Alberto Ferrarese, Diletta Laccabue, Vito Di Marco, Pierluigi Blanc, Aldo Marrone, Giulia Morsica, Alessandro Federico, Donatella Ieluzzi, Alba Rocco, Francesco Giuseppe Foschi, Alessandro Soria, Ivana Maida, Luchino Chessa, Michele Milella, Elena Rosselli Del Turco, Salvatore Madonia, Liliana Chemello, Ivan Gentile, Pierluigi Toniutto, Matteo Bassetti, Lorenzo Surace, Leonardo Baiocchi, Adriano Pellicelli, Adriano De Santis, Massimo Puoti, Elisabetta Degasperi, Grazia Anna Niro, Anna Linda Zignego, Antonio Craxi, Giovanni Raimondo, Teresa Antonia Santantonio, Maurizia Rossana Brunetto, Giovanni Battista Gaeta, Alessio Aghemo, Chiara Baiguera, Pier Maria Battezzati, Sara Battistella, Maria Grazia Bavetta, Costanza Bertoni, Carolina Boni, Paola Brambilla, Antonella Bray, Federica Briano, Enrico Carmenini, Francesco Castelli, Luisa Cavalletto, Federica Cerini, Luciana Chidichimo, Elisa Colella, Giuliana Cologni, Silvia Como, Romina Corsini, Chiara Costa, Rosa Cotugno, Silvia Cretella, Fernando De Angelis, Pasqualina De Leo, Giovanni Di Perri, Elisabetta Falbo, Luigina Ferrigno, Ezio Fornasiere, Daniela Francisci, Pietro Gatti, Pietro Lampertico, Ilaria Lenci, Anna Licata, Alfredo Marzano, Antonio Mastroianni, Cesare Mazzaro, Monica Monti, Gerardo Nardone, Laura Ambra Nicolini, Nicola Passigato, Maria Bruna Pasticci, Piera Pierotti, Biagio Pinchera, Teresa Pollicino, Carmen Porcu, Giulia Quartini, Gabriele Rancatore, Mario Romeo, Maria Grazia Rumi, Annalisa Saracino, Ornella Schioppa, Ilaria Serio, Roberta Soffredini, Xhimi Tata, Marco Tizzani, Matteo Tonnini, Carlo Torti, Daniela Valenti, Serena Zaltron, Alessia Zoncada

Publikováno v: International Journal of Infectious Diseases, Vol 146, Iss , Pp 107115- (2024)

Background and Aims: We aimed to characterize the epidemiologic and comorbidities profiles of patients with chronic Hepatitis D (CHD) followed in clinical practice in Italy and explored their interferon (IFN) eligibility. Methods: This was a cross-se

Externí odkaz: https://doaj.org/article/d176c063bea340bc95d90a2a253e2009

Development and Validation of a Scoring System to Predict Response to Obeticholic Acid in Primary Biliary Cholangitis

Autor: Scaravaglio, Miki, Nofit, Eugenia, Gallo, Paolo, Galati, Giovanni, Pezzato, Francesco, Rollo, Paolo, D’Ovidio, Erica, Coco, Barbara, Tortora, Annalisa, Fiorini, Cecilia, Venere, Rosanna, Scifo, Gaetano, Cannavò, Mariarita, Feletti, Valentina, Pizzolante, Fabrizio, Giannini, Edoardo Giovanni, Cotugno, Rosa, Fanella, Silvia, Losito, Francesco, Grassi, Giuseppe, Manfredi, Giulia Francesca, Buzzanca, Valerio, Omazzi, Barbara, Casella, Silvia, Zani, Francesca, Ricci, Chiara, Bellia, Valentina, Abenavoli, Ludovico, Morelli, Olivia, Crocè, Lory Saveria, Scivetti, Paolo, Panero, Antonio, Boano, Valentina, Poggi, Guido, Gimignani, Giancarlo, Conforti, Alessandro, Frazzetto, Evelise, Rapisarda, Laura, Demma, Shrin, De Vincentis, Antonio, Ampuero, Javier, Terracciani, Francesca, D’Amato, Daphne, Gerussi, Alessio, Cristoferi, Laura, Cazzagon, Nora, Bonaiuto, Emanuela, Floreani, Annarosa, Calvaruso, Vincenza, Cadamuro, Luca, Degasperi, Elisabetta, Morgando, Anna, Vanni, Ester, Lleo, Ana, Colapietro, Francesca, Alvaro, Domenico, Castellaneta, Antonino, Labanca, Sara, Viganò, Mauro, Distefano, Marco, Pace Palitti, Valeria, De Matthaeis, Nicoletta, Marzioni, Marco, Gómez-Dominguez, Elena, Montero, Jose-Luis, Molina, Esther, Garcia-Buey, Luisa, Casado, Marta, Berenguer, Marina, Conde, Isabel, Simon, Miguel-Angel, Fuentes, Javier, Costa-Moreira, Pedro, Macedo, Guilherme, Jorquera, Francisco, Morillas, Rosa-Maria, Presa, Jose, Sousa, Jose-Manuel, Gomes, Dario, Santos, Luis, Olveira, Antonio, Hernandez-Guerra, Manuel, Aburruza, Leire, Santos, Arsenio, Carvalho, Armando, Uriz, Juan, Gutierrez, Maria-Luisa, Perez, Elia, Chessa, Luchino, Pellicelli, Adriano, Marignani, Massimo, Muratori, Luigi, Niro, Grazia Anna, Brunetto, Maurizia, Ponziani, Francesca Romana, Pompili, Maurizio, Marra, Fabio, Galli, Andrea, Mussetto, Alessandro, Alagna, Giuliano, Simone, Loredana, Bertino, Gaetano, Rosina, Floriano, Cozzolongo, Raffaele, Russello, Maurizio, Baiocchi, Leonardo, Saitta, Carlo, Terreni, Natalia, Zolfino, Teresa, Rigamonti, Cristina, Vigano, Raffaella, Cuccorese, Giuseppe, Pozzoni, Pietro, Pedone, Claudio, Grasso, Simone, Picardi, Antonio, Invernizzi, Pietro, Sacco, Rodolfo, Izzi, Antonio, Fernandez-Rodriguez, Conrado, Vespasiani-Gentilucci, Umberto, Carbone, Marco

Publikováno v: In Clinical Gastroenterology and Hepatology October 2024 22(10):2062-2074

Epigenetic modulators link mitochondrial redox homeostasis to cardiac function in a sex-dependent manner

Autor: Zaher ElBeck, Mohammad Bakhtiar Hossain, Humam Siga, Nikolay Oskolkov, Fredrik Karlsson, Julia Lindgren, Anna Walentinsson, Dominique Koppenhöfer, Rebecca Jarvis, Roland Bürli, Tanguy Jamier, Elske Franssen, Mike Firth, Andrea Degasperi, Claus Bendtsen, Robert I. Menzies, Katrin Streckfuss-Bömeke, Michael Kohlhaas, Alexander G. Nickel, Lars H. Lund, Christoph Maack, Ákos Végvári, Christer Betsholtz

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

Abstract While excessive production of reactive oxygen species (ROS) is a characteristic hallmark of numerous diseases, clinical approaches that ameliorate oxidative stress have been unsuccessful. Here, utilizing multi-omics, we demonstrate that in c

Externí odkaz: https://doaj.org/article/8cb734f3e6db454ca663dbe7df2cc0bb

Immunothrombosis and its underlying biological mechanisms

Autor: Arthur Cunha De Nardi, Andréa Coy-Canguçu, Atena Saito, Maria Fernanda Florio, Giovanna Marti, Giovanna R. Degasperi, Fernanda A. Orsi

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 46, Iss 1, Pp 49-57 (2024)

The evolutionary conserved link between coagulation and innate immunity is a biological process characterized by the thrombosis formation stimulus of immune cells and specific thrombosis-related molecules. In physiological settings, the relationship

Externí odkaz: https://doaj.org/article/5843cf4c321e40e2929db641e276e795