Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Autor: Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group

Publikováno v: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus prov

Externí odkaz: https://doaj.org/article/0d15d9c849414d05b47cb23663857b6e

How time window influences biometrics performance: an EEG-based fingerprints connectivity study

Autor: Didaci, Luca, Pani, Sara Maria, Frongia, Claudio, Fraschini, Matteo

EEG-based biometric represents a relatively recent research field that aims to recognize individuals based on their recorded brain activity by means of electroencephalography (EEG). Among the numerous features that have been proposed, connectivity-ba

Externí odkaz: http://arxiv.org/abs/2307.08291

Bring It Up: An Adapted Collaborative Care Model for Depression in a Safety‐Net Primary Care Clinic

Autor: Lisa Ochoa‐Frongia, Maria E. Garcia, Tamara Bendahan, Andrea N. Ponce, Cristina Calderon, Margo Pumar, Karen Yee, Dean Schillinger, Rachel Loewy, Christina Mangurian

Publikováno v: Psychiatric Research and Clinical Practice, Vol 6, Iss 2, Pp 42-50 (2024)

Objective Over 90 clinical trials demonstrate the efficacy of the collaborative care model (CoCM) to treat depression in primary care but there is significant variability in real‐world CoCM implementation and scalability. This study aimed to determ

Externí odkaz: https://doaj.org/article/60a61305d6e44a16b417b075173674a5

Recommendations for recognizing, risk stratifying, treating, and managing children and adolescents with hypoglycemia

Autor: Stefano Zucchini, Stefano Tumini, Andrea Enzo Scaramuzza, Riccardo Bonfanti, Maurizio Delvecchio, Roberto Franceschi, Dario Iafusco, Lorenzo Lenzi, Enza Mozzillo, Stefano Passanisi, Claudia Piona, Ivana Rabbone, Novella Rapini, Andrea Rigamonti, Carlo Ripoli, Giuseppina Salzano, Silvia Savastio, Riccardo Schiaffini, Angela Zanfardino, Valentino Cherubini, Diabetes Study Group of the Italian Society for Pediatric Endocrinology Diabetes, Albino Claudia Accursia, Aloe Monica, Anzelotti Maria Teresa, Arnaldi Claudia, Barbetti Fabrizio, Bassi Marta, Berioli Maria Giulia, Bernardini Luca, Bertelli Enrica, Biagioni Martina, Bobbio Adriana, Bombaci Bruno, Bonfanti Riccardo, Bonura Clara, Bracciolini Giulia Patrizia, Bruzzese Mariella, Bruzzi Patrizia, Buono Pietro, Buscarino Piera, Cadario Francesco, Calcaterra Valeria, Calzi Elena, Cappa Marco, Cardani Roberta, Cardella Francesca, Cardinale Giuliana Marcella, Casertano Alberto, Castorani Valeria, Cauvin Vittoria, Cenciarelli Valentina, Ceruti Franco, Cherubini Valentino, Chiarelli Francesco, Chiari Giovanni, Cianfarani Stefano, Cicchetti Mario, Cipriano Paola, Cirillo Dante, Citriniti Felice, Coccioli Maria Susanna, Confetto Santino, Contreas Giovanna, Coro Anna, Correddu Antonella, Corsini Elisa, Crino’ Antonino, d’Annunzio Giuseppe, De Berardinis Fiorella, De Donno Valeria, De Filippo Gianpaolo, De Marco Rosaria, De Sanctis Luisa, Del Duca Elisabetta, Delvecchio Maurizio, Deodati Annalisa, Di Bonito Procolo, Di Candia Francesca, Faleschini Elena, Fattorusso Valentina, Favia Anna, Federico Giovanni, Felappi Barbara, Ferrari Mara, Ferrito Lucia, Fichera Graziella, Fontana Franco, Fornari Elena, Franceschi Roberto, Franco Francesca, Franzese Adriana, Frongia Anna Paola, Frontino Giulio, Gaiero Alberto, Galassi Sabrina Maria, Gallo Francesco, Gargantini Luigi, Giani Elisa, Gortan Anna Jolanda, Graziani Vanna, Grosso Caterina, Gualtieri Antonella, Guasti Monica, Guerraggio Lucia Paola, Guzzetti Chiara, Iafusco Dario, Iannicelli Gennaro, Iezzi Maria Laura, Ignaccolo Maria Giovanna, Innaurato Stefania, Inzaghi Elena, Iovane Brunella, Iughetti Lorenzo, Kaufmann Peter, La Loggia Alfonso, Lambertini Anna Giulia, Lapolla Rosa, Lasagni Anna, Lazzaro Nicola, Lazzeroni Pietro, Lenzi Lorenzo, Lera Riccardo, Levantini Gabriella, Lezzi Marilea, Lia Rosanna, Liguori Alice, Lo Presti Donatella, Lombardo Fortunato, Lonero Antonella, Longhi Silvia, Lorubbio Antonella, Lucchesi Sonia, Maccioni Rosella, Macedoni Maddalena, Macellaro Patrizia Cristiana, Madeo Simona Filomena, Maffeis Claudio, Mainetti Benedetta, Maltoni Giulio, Mameli Chiara, Mammì Francesco, Manca Bitti Maria Luisa, Mancioppi Valentina, Manco Melania, Marigliano Marco, Marino Monica, Marsciani Alberto, Matteoli Maria Cristina, Mazzali Elena, Minute Marta, Minuto Nicola, Monti Sara, Morandi Anita,, Morganti Gianfranco, Morotti Elisa, Mozzillo Enza, Musolino Gianluca, Olivieri Francesca, Ortolani Federica, Pampanini Valentina, Pardi Daniela, Pascarella Filomena, Pasquino Bruno, Passanisi Stefano, Patera Ippolita Patrizia, Pedini Annalisa, Pennati Maria Cristina, Peruzzi Sonia, Peverelli Paola, Pezzino Giulia, Piccini Barbara, Piccinno Elvira Eugenia Rosaria, Piona Claudia, Piredda Gavina, Piscopo Alessia, Pistone Carmelo, Pozzi Erica, Prandi Elena, Predieri Barbara, Prudente Sabrina, Pulcina Anna, Rabbone Ivana, Randazzo Emioli, Rapini Novella, Reinstadler Petra, Riboni Sara, Ricciardi Maria Rossella, Rigamonti Andrea, Ripoli Carlo, Rossi Virginia, Rossi Paolo, Rutigliano Irene, Sabbion Alberto, Salvatoni Alessandro, Salvo Caterina, Salzano Giuseppina, Sanseviero Mariateresa, Savastio Silvia, Savini Rosanna, Scanu Mariapiera, Scaramuzza Andrea Enzo, Schiaffini Riccardo, Schiavone Maurizio, Schieven Eleonardo, Scipione Mirella, Secco Andrea, Silvestri Francesca, Siri Giulia, Sogno Valin Paola, Sordelli Silvia, Spiri Daniele, Stagi Stefano, Stamati Filomena Andreina, Suprani Tosca, Talarico Valentina, Tiberi Valentina, Timpanaro Tiziana Antonia Lucia, Tinti Davide, Tirendi Antonina, Tomaselli Letizia Grazia, Toni Sonia, Torelli Cataldo, Tornese Gianluca, Trada Michela,, Trettene Adolfo Andrea, Tumini Stefano, Tumminelli Marilena, Valerio Giuliana, Vandelli Sara, Ventrici Claudia, Zampolli Maria, Zanatta Manuela, Zanfardino Angela, Zecchino Clara, Zonca Silvia, Zucchini Stefano

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

There has been continuous progress in diabetes management over the last few decades, not least due to the widespread dissemination of continuous glucose monitoring (CGM) and automated insulin delivery systems. These technological advances have radica

Externí odkaz: https://doaj.org/article/04c5d7ea5bbf4c18b2fce4857d7be15d

The Usefulness of 55° Wide-Field Spectral-Domain Optical Coherence Tomography in Monitoring the Features of Peripheral Subretinal Fluid Remnants after Rhegmatogenous Retinal Detachment Surgery

Autor: Valentina Carta, Filippo Lixi, Pasquale Loiudice, Francesca Frongia, Filippo Tatti, Chiara Delpiano, Pierluca Cremonesi, Enrico Peiretti

Publikováno v: Diagnostics, Vol 14, Iss 13, p 1385 (2024)

Background: This study aimed to assess the effectiveness of 55° wide-field (WF) spectral-domain (SD) optical coherence tomography (OCT) for detecting peripheral subretinal fluid (SRF) after surgery for rhegmatogenous retinal detachment (RRD). Method

Externí odkaz: https://doaj.org/article/0ac8fac3ff4c49939791e27c5faa4bb2