Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center

Autor: Carola R. Ferrari Aggradi, Elisa Falcier, Andrea Lizio, Alice Pirola, Jacopo Casiraghi, Alice Zanolini, Elena Carraro, Luca Mauro, Fabrizio Rao, Elisabetta Roma, Antonino Iannello, Elisa De Mattia, Andrea Barp, Sara Lupone, Valentina Gatti, Cristina Italiano, Valeria A. Sansone

Publikováno v: Canadian Respiratory Journal, Vol 2022 (2022)

Introduction. Respiratory insufficiency is one of the main causes of death in myotonic dystrophy type 1 (DM1). Although there is general consensus that these patients have a restrictive ventilatory pattern, hypoventilation, chronic hypercapnia, and s

Externí odkaz: https://doaj.org/article/56421ed8ed714a8bb9544d6df5ff85ca

Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1

Autor: Luca Mauro, A. Zanolini, Elisa Falcier, Fabio Placidi, Annalisa Rubino, Elisabetta Roma, Federica Amico, Claudio Liguori, Andrea Romigi, Elio Agostoni, Carola Ferrari Aggradi, Paola Rogliani, Francesca Izzi, Federica Cattaneo, Valeria A. Sansone, Matteo Spanetta, Fabrizio Rao, Paola Proserpio, Andrea Lizio Biost, Erica Frezza, Lino Nobili, Roberto Massa, Andrea Lanza, Claudia Galluzzi, Gabriella Pezzuto, Giulia Greco, Alice Pirola

Publikováno v: J Clin Sleep Med
Web of Science

STUDY OBJECTIVES: Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 is mostly of central origin but it may coexist with sleep-related breathing disorders. However, there is no consensus on the sleep protocols to be used, assessments var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361d7a051895aae8fb860bba61ef6f48
https://doi.org/10.5664/jcsm.9438

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

Autor: Emilio Albamonte, Adele D'Amico, Sonia Messina, Valeria A. Sansone, Luca Mauro, Susanna Pozzi, Maria Carmela Pera, Marika Pane, Andrea Lizio, Enrico Bertini, Cristina Italiano, Claudio Bruno, Lucia Greco, Giorgia Coratti, Christine Zizzi, Alice Pirola, Maria Sframeli, Claudia Stancanelli, Chad Heatwole, Francesca Salmin, Jacopo Casiraghi, Eugenio Mercuri, Marina Pedemonte

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6a
http://hdl.handle.net/10807/182752

Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen

Autor: Valeria A. Sansone, Marina Pedemonte, Roberto De Sanctis, Enrico Bertini, Claudio Bruno, Francesco Macagno, Michela Catteruccia, Eugenio Mercuri, Alessandra Di Bari, Fabrizio Rao, Adele D'Amico, Marika Pane, Renato Cutrera, Elisabetta Roma, Andrea Lizio, Sonia Messina, Emilio Albamonte, Giuseppe Vita, Alice Pirola, Marco Piastra, Carmela Maria Pera, Francesca Salmin, Maria Sframeli, Giorgia Coratti

Publikováno v: The Journal of Pediatrics. 219:223-228.e4

Objective To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy. Study design Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb505e3ae92c12af798a472d4b0fb68
https://doi.org/10.1016/j.jpeds.2019.12.047

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Autor: Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, De Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico Silvio, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio Maria, Italian EAP Working Group: Daniela Leone, Gloria, Ferrantini, Beatrice, Berti, Pera, Maria Carmela, Nicola, Forcina, Sara, Carnicella, Giulia, Norcia, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Paola, Cimbolli, Antonio, Versaci, Imma, Rulli, Eloisa, Gitto, Cristina, Faraone, Stefania La Foresta, Maria, Macrì, Giulia, Colia, Anna Maria Bonetti, Adelina, Carlesi, Renato, Cutrera, Maria Beatrice Chiarini, Marta, Ferretti, Alberto, Garaventa, Giovanni, Montobbio, Carlo, Gandolfo, Valentina, Iurilli, Paola, Tacchetti, Emilia, Bobeica, Valentina, Lanzillotta, Alice, Pirola, Sara, Lupone, Elisa De Mattia, Elisa, Falcier, Fabrizio, Rao, Elisabetta, Roma, Caterina, Conti, Francesca, Salmin, Cristina, Grandi, Fausto, Fedeli, Luca, Mancini, Nicola, Tovaglieri, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Beatrice, Travaglia, Emma, Mizzotti, Daniela, Lauro, Luca, Binetti, Anita, Pallara, Simona, Spinoglio, Maria Letizia Solinas, Grazia, Zappa, Francesca, Penno, Cristina, Ponzanelli, Casiraghi, Jacopo Luca

ObjectiveTo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.MethodsWe included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1402b3a8294339dffbf50e914c739f9
http://hdl.handle.net/10807/125805