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1. User experience of passive hip flexion device in people with multiple sclerosis: Exploring improvements and overcoming barriers

Author

Sara Liguori, MD, Fausto A. Panizzolo, PhD, Giuseppe Marcolin, BSc, MSc, PhD, Giovanni Micaglio, MD, Margherita Mendicino, MSc, Claudio Semplicini, MD, PhD, Alessio Baricich, MD, PhD, Franco Molteni, MD, Eleonora Guanziroli, PhD, Silvia Ciotti, MD, Mauro Zampolini, MD, Enrico Castelli, MD, Fabrizio Gervasoni, MD, Marcello M. Campagnoli, MD, Marco Quercio, MD, and Francesca Gimigliano, MD, PhD

Subjects
Orthopedic surgery, RD701-811, Medicine
Abstract

Background:. Multiple sclerosis (MS) is a chronic disease that primarily affects young adults and causes disability by impairing the central nervous system. Gait impairments are common in people with MS (pwMS), and lower limb orthoses are often used to improve stability and mobility. However, compliance with orthotic devices can vary among individuals due to issues related to the appropriate prescription and lack of acceptability. Objective:. In this observational, cross-sectional study, we aimed to explore the experience of wearing a passive hip flexion device in a cohort of pwMS. Methods:. We included men and women >18 years old affected by MS (Expanded Disability Status Scale >4) who have been using a passive hip flexion device (ExoBand, Moveo srl) since 2020 for at least 15 days. The participants completed a phone survey that collected demographic, anthropometric, and clinical data, their perceptions of the device’s impact using the Psychosocial Impact of Assistive Devices (PIADS) questionnaire, and a qualitative part with an open-ended question. Results:. A total of 41 patients completed the survey. The participants experienced improvements in all 3 areas of the PIADS questionnaire since using the ExoBand (P

Published
2024
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2. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Author

Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, and Cesare Danesino

Subjects
late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
Abstract

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is α-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype.

Published
2023
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3. Ablation of collagen VI leads to the release of platelets with altered function

Author

Abbonante, Vittorio, Gruppi, Cristian, Battiston, Monica, Zulian, Alessandra, Di Buduo, Christian Andrea, Chrisam, Martina, Sereni, Lucia, Laurent, Pierre-Alexandre, Semplicini, Claudio, Lombardi, Elisabetta, Mazzucato, Mario, Moccia, Francesco, Petronilli, Valeria, Villa, Anna, Bello, Luca, Pegoraro, Elena, Bernardi, Paolo, Braghetta, Paola, De Marco, Luigi, Bonaldo, Paolo, and Balduini, Alessandra

Published
2021
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4. Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige)

Author

Manganotti, Paolo, Naccarato, Marcello, Scali, Ilario, Cappellari, Manuel, Bonetti, Bruno, Burlina, Alessandro, Turinese, Emanuele, Bogo, Sabrina, Teatini, Francesco, Franchini, Enrica, Caneve, Giorgio, Ruzza, Giampietro, Gaudenzi, Anna, Bombardi, Roberto, Bozzato, Giulio, Padoan, Roberta, Gentile, Carolina, Rana, Michele, Turazzini, Michelangelo, Alessandra, Danese, Brigo, Francesco, Nardone, Raffaele, Quatrale, Rocco, Menegazzo, Elisabetta, Masato, Maela, Novello, Stefano, Passadore, Paolo, Baldi, Antonio, Valentinis, Luca, Baracchini, Claudio, Pieroni, Alessio, Basile, Anna Maria, Semplicini, Claudio, Piffer, Silvio, Giometto, Bruno, Tonello, Simone, Bonifatti, Domenico Marco, Lorenzut, Simone, Merlino, Giovanni, Valente, Maria Rosaria, Paladin, Francesco, Tonon, Agnese, de Luca, Cristina, Perini, Francesco, Centonze, Sandro, and Bovi, Paolo

Published
2021
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5. Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction

Author

Ilaria Gregorio, Maddalena Mereu, Gabriella Contarini, Luca Bello, Claudio Semplicini, Francesca Burgio, Loris Russo, Stefania Sut, Stefano Dall'Acqua, Paola Braghetta, Carlo Semenza, Elena Pegoraro, Francesco Papaleo, Paolo Bonaldo, and Matilde Cescon

Subjects
collagen vi, mouse model, central nervous system, dopamine, prefrontal cortex, cognitive function, Medicine, Pathology, RB1-214
Published
2022
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7. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Author

Savarese, Marco, Torella, Annalaura, Musumeci, Olimpia, Angelini, Corrado, Astrea, Guja, Bello, Luca, Bruno, Claudio, Comi, Giacomo Pietro, Di Fruscio, Giuseppina, Piluso, Giulio, Di Iorio, Giuseppe, Ergoli, Manuela, Esposito, Gaia, Fanin, Marina, Farina, Olimpia, Fiorillo, Chiara, Garofalo, Arcomaria, Giugliano, Teresa, Magri, Francesca, Minetti, Carlo, Moggio, Maurizio, Passamano, Luigia, Pegoraro, Elena, Picillo, Ester, Sampaolo, Simone, Santorelli, Filippo Maria, Semplicini, Claudio, Udd, Bjarne, Toscano, Antonio, Politano, Luisa, and Nigro, Vincenzo

Published
2018
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8. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., and Carlier, Robert Y.

Published
2020
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9. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Ravaglia, Sabrina, Servidei, Serenella, Moggio, Maurizio, Musumeci, Olimpia, Donati, Maria Alice, Pegoraro, Elena, Di Muzio, Antonio, Maggi, Lorenzo, Tonin, Paola, Marrosu, Gianni, Sancricca, Cristina, Lerario, Alberto, Sacchini, Michele, Semplicini, Claudio, Bozzoni, Virginia, Telese, Roberta, Bonanno, Silvia, Piras, Rachele, Maioli, Maria Antonietta, Ricci, Giulia, Vercelli, Liliana, Galvagni, Anna, Gallo Cassarino, Serena, Caria, Filomena, Mongini, Tiziana, Siciliano, Gabriele, Padovani, Alessandro, and Toscano, Antonio

Published
2019
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10. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Author

Bassez, G., Bedat-Millet, A.-L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Caillaud, C., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Ferrer, X., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M.-C., Nadaj-Pakleza, A., Nathier, C., Pellegrini, N., Petiot, P., Lofaso, F., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., Papadopoulos, Constantinos, Orlikowski, David, Prigent, Hélène, Lacour, Arnaud, Tard, Céline, Furby, Alain, Praline, Julien, Solé, Guilhem, Hogrel, Jean-Yves, De Antonio, Marie, Semplicini, Claudio, Deibener-Kaminsky, Joelle, Kaminsky, Pierre, Eymard, Bruno, Taouagh, Nadjib, Perniconi, Barbara, Hamroun, Dalil, and Laforêt, Pascal

Published
2017
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13. Prevalence and Determinants of the Use of Lipid-Lowering Agents in a Population of Older Hospitalized Patients: the Findings from the REPOSI (REgistro POliterapie Società Italiana di Medicina Interna) Study

Author

Bertolotti, Marco, Franchi, Carlotta, Rocchi, Marco B. L., Miceli, Andrea, Libbra, M. Vittoria, Nobili, Alessandro, Lancellotti, Giulia, Carulli, Lucia, Mussi, Chiara, Mannucci, Pier Mannuccio, Nobili, Alessandro, Tettamanti, Mauro, Pasina, Luca, Franchi, Carlotta, Perticone, Francesco, Salerno, Francesco, Corrao, Salvatore, Marengoni, Alessandra, Licata, Giuseppe, Violi, Francesco, Corazza, Gino Roberto, Marcucci, Maura, Eldin, Tarek Kamal, Di Blanca, Maria Pia Donatella, Lanzo, Giovanna, Astuto, Sarah, Tettamanti, Mauro, Ardoino, Ilaria, Cortesi, Laura, Prisco, Domenico, Silvestri, Elena, Cenci, Caterina, Emmi, Giacomo, Biolo, Gianni, Guarnieri, Gianfranco, Zanetti, Michela, Fernandes, Giovanni, Chiuch, Massimiliano, Vanoli, Massimo, Grignani, Giulia, Casella, Gianluca, Pulixi, Edoardo Alessandro, Bernardi, Mauro, Bassi, Silvia Li, Santi, Luca, Zaccherini, Giacomo, Mannarino, Elmo, Lupattelli, Graziana, Bianconi, Vanessa, Paciullo, Francesco, Nuti, Ranuccio, Valenti, Roberto, Ruvio, Martina, Cappelli, Silvia, Palazzuoli, Alberto, Salvatore, Teresa, Sasso, Ferdinando Carlo, Girelli, Domenico, Olivieri, Oliviero, Matteazzi, Thomas, Barbagallo, Mario, Plances, Lidia, Alcamo, Roberta, Licata, Giuseppe, Calvo, Luigi, Valenti, Maria, Pasini, Franco Laghi, Capecchi, Pier Leopoldo, Bicchi, Maurizio, Palasciano, Giuseppe, Modeo, Maria Ester, Peragine, Maria, Pappagallo, Fabrizio, Pugliese, Stefania, Di Gennaro, Carla, Postiglione, Alfredo, Barbella, Maria Rosaria, De Stefano, Francesco, Cappellini, Maria Domenica, Fabio, Giovanna, Seghezzi, Sonia, De Amicis, Margherita Migone, Mancarella, Marta, Mari, Daniela, Rossi, Paolo Dionigi, Damanti, Sarah, Ottolini, Barbara Brignolo, Bonini, Giulia, Corazza, Gino Roberto, Miceli, Emanuela, Lenti, Marco Vincenzo, Padula, Donatella, Murialdo, Giovanni, Marra, Alessio, Cattaneo, Federico, Secchi, Maria Beatrice, Ghelfi, Davide, Anastasio, Luigi, Sofia, Lucia, Carbone, Maria, Davì, Giovanni, Guagnano, Maria Teresa, Sestili, Simona, Mancuso, Gerardo, Calipari, Daniela, Bartone, Mosè, Meroni, Maria Rachele, Perin, Paolo Cavallo, Lorenzati, Bartolomeo, Gruden, Gabriella, Bruno, Graziella, Amione, Cristina, Fornengo, Paolo, Tassara, Rodolfo, Melis, Deborah, Rebella, Lara, Delitala, Giuseppe, Pretti, Vincenzo, Masala, Maristella Salvatora, Pes, Chiara, Bolondi, Luigi, Rasciti, Leonardo, Serio, Ilaria, Fanelli, Filippo Rossi, Amoroso, Antonio, Molfino, Alessio, Petrillo, Enrico, Zuccalà, Giuseppe, Franceschi, Francesco, De Marco, Guido, Chiara, Cordischi, Marta, Sabbatini, D’Aurizio, Gabriella, Romanelli, Giuseppe, Amolini, Claudia, Chiesa, Deborah, Marengoni, Alessandra, Picardi, Antonio, Gentilucci, Umberto Vespasiani, Gallo, Paolo, Annoni, Giorgio, Corsi, Maurizio, Zazzetta, Sara, Bellelli, Giuseppe, Szabo, Hajnalka, Arturi, Franco, Succurro, Elena, Rubino, Mariangela, Sesti, Giorgio, Loria, Paola, Becchi, Maria Angela, Martucci, Gianfranco, Fantuzzi, Alessandra, Maurantonio, Mauro, Serra, Maria Grazia, Bleve, Maria Antonietta, Gasbarrone, Laura, Sajeva, Maria Rosaria, Brucato, Antonio, Ghidoni, Silvia, Di Corato, Paola, Agnelli, Giancarlo, Marchesini, Emanuela, Fabris, Fabrizio, Carlon, Michela, Turatto, Francesca, Baritusso, Aldo, Turatto, Francesca, Amabile, Annalisa, Omenetto, Elisabetta, Scarinzi, Paolo, Manfredini, Roberto, Molino, Christian, Pala, Marco, Fabbian, Fabio, Boari, Benedetta, De Giorgi, Alfredo, Paolisso, Giuseppe, Rizzo, Maria Rosaria, Laieta, Maria Teresa, Rini, Giovanbattista, Mansueto, Pasquale, Pepe, Ilenia, Borghi, Claudio, Strocchi, Enrico, De Sando, Valeria, Pareo, Ilaria, Sabbà, Carlo, Vella, Francesco Saverio, Suppressa, Patrizia, Valerio, Raffaella, Agosti, Pasquale, Fontana, Flavia, Loparco, Francesca, Pugliese, Stefania, Capobianco, Caterina, Fenoglio, Luigi, Bracco, Christian, Giraudo, Alessia Valentina, Testa, Elisa, Serraino, Cristina, Fargion, Silvia, Bonara, Paola, Periti, Giulia, Porzio, Marianna, Tiraboschi, Slivia, Peyvandi, Flora, Tedeschi, Alberto, Rossio, Raffaella, Ferrari, Barbara, Monzani, Valter, Savojardo, Valeria, Folli, Christian, Salerno, Maria Magnini Francesco, Conca, Alessio, Gobbo, Giulia, Conca, Alessio, Pallini, Giada, Valenti, Miriam, Balduini, Carlo L., Bertolino, Giampiera, Provini, Stella, Quaglia, Federica, Dallegri, Franco, Ottonello, Luciano, Liberale, Luca, Chin, Wu Sheng, Carassale, Laura, Caporotundo, Silvia, Traisci, Giancarlo, De Feudis, Lucrezia, Di Carlo, Silvia, Liberato, Nicola Lucio, Buratti, Alberto, Tognin, Tiziana, Bianchi, Giovanni Battista, Giaquinto, Sabrina, Purrello, Francesco, Di Pino, Antonino, Piro, Salvatore, Rozzini, Renzo, Falanga, Lina, Spazzini, Elena, Montrucchio, Giuseppe, Greco, Elisabetta, Tizzani, Pietro, Petitti, Paolo, Perciccante, Antonio, Coralli, Alessia, Salmi, Raffaella, Gaudenzi, Piergiorgio, Gamberini, Susanna, Semplicini, Andrea, Gottardo, Lucia, Vendemiale, Gianluigi, Serviddio, Gaetano, Forlano, Roberta, Masala, Cesare, Mammarella, Antonio, Raparelli, Valeria, Violi, Francesco, Basili, Stefania, Perri, Ludovica, Landolfi, Raffaele, Montalto, Massimo, Mirijello, Antonio, Vallone, Carla, Bellusci, Martino, Setti, Donatella, Pedrazzoli, Filippo, Guasti, Luigina, Castiglioni, Luana, Maresca, Andrea, Squizzato, Alessandro, Molaro, Marta, Bertolotti, Marco, Mussi, Chiara, Libbra, Maria Vittoria, Miceli, Andrea, Pellegrini, Elisa, Carulli, Lucia, Veltri, Francesca, Perticone, Francesco, Sciacqua, Angela, Quero, Michele, Bagnato, Chiara, Colangelo, Lidia, Falbo, Tania, De Giorgio, Roberto, Serra, Mauro, Grasso, Valentina, Ruggeri, Eugenio, Ilaria, Benzoni, Salvi, Andrea, Leonardi, Roberto, Grassini, Chiara, Mascherona, Ilenia, Minelli, Giorgio, Maltese, Francesca, Damiani, Giampaolo, Capeci, William, Mattioli, Massimo, Martino, Giuseppe Pio, Biondi, Lorenzo, Ormas, Monica, Pettinari, Pietro, Romiti, Roberto, Corrao, Salvatore, Messina, Silvia, Cavallaro, Federica, Ghio, Riccardi, Favorini, Serena, Col, Anna Dal, Minisola, Salvatore, Colangelo, Luciano, Afeltra, Antonella, Alemanno, Pamela, Marigliano, Benedetta, Pipita, Maria Elena, Castellino, Pietro, Blanco, Julien, Zanoli, Luca, Cattaneo, Marco, Fracasso, Paola, Amoruso, Maria Valentina, Saracco, Valter, Fogliati, Marisa, Bussolino, Carlo, Durante, Vittorio, Eusebi, Giovanna, Tirotta, Daniela, Mete, Francesca, Gino, Miriam, Cittadini, Antonio, Vigorito, Carlo, Arcopinto, Michele, Salzano, Andrea, Bobbio, Emanuele, Marra, Alberto Maria, Sirico, Domenico, Moreo, Guido, Scopelliti, Francesco, Gasparini, Francesca, Cocca, Melissa, Ballestrero, Alberto, Ferrando, Fabio, Berra, Sergio, Dassi, Simonetta, Nava, Maria Cristina, Graziella, Bruno, Ghidoni, Silvia, Amione, Cristina, Baldassarre, Stefano, Fragapani, Salvatore, Gruden, Gabriella, Galanti, Giorgio, Mascherini, Gabriele, Petri, Cristian, Stefani, Laura, Girino, Margherita, Piccinelli, Valeria, Nasso, Francesco, Gioffrè, Vincenza, Pasquale, Maria, Scattolin, Giuseppe, Martinelli, Sergio, Turrin, Mauro, Sechi, Leonardo, Catena, Cristina, Colussi, Gianluca, Nieves, Ramirez Duque, Alberto, Muela Molinero, Pedro, Abad Requejo, Vanessa, Lopez Pelaez, Lara, Tamargo, Xavier, Corbella Viros, Francesc, Formiga, Jesus, Diez Manglano, Esperanza, Bejarano Tello, Esther, Del Corral Behamonte, Maria, Sevil Puras, Romero, Manuel, Blanca, Pinilla Llorente, Cristina, Lopez Gonzalez-Cobos, Victoria, Villalba Garcia M., Saez, Lopez, Bosco, Juan, Susana, Sanz Baena, Marta, Arroyo Gallego, Concepcion, Gonzalez Becerra, Antonio, Fernandez Moyano, Hernandez, Mercedes Gomez, Borrego, Manuel Poyato, Raquel, Pacheco Cuadros, Florencia, Perez Rojas, Beatriz, Garcia Olid, Sara, Carrascosa Garcia, Alfonso, Gonzalez-Cruz Cervellera, Marta, Peinado Martinez, Garcia, Sara Carrascosa, Alberto, Ruiz Cantero, Antonio, Albarracín Arraigosa, Montserrat, Godoy Guerrero, Ángel, Barón Ramos Miguel, Manuel, Machin Jose, Ignacio, Novo Veleiro, Lucía, Alvela Suarez, Alfonso, Lopez, David, Rubal Bran, Iria, Iñiguez Vazquez, Monica, Rios Prego, and On behalf of REPOSI Investigators

Published
2017
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14. Assessment of disease progression in dysferlinopathy: A 1-year cohort study

Author

Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shinʼichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, and Straub, Volker

Published
2019
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15. Critical issues in the relationships between patient relatives and hospital staff: qualitative research based on focus group

Author

Beatrice Cecchini, Valeria Del Longo, Emanuela Grandesso, Alessandro Gamba, and Andrea Semplicini

Subjects
caregiver, focus group, frailty., Medicine
Abstract

In Italy the number of elderly patients is increasing and often a family member, also called primary caregiver (CG), assists them. The aim of this study is to describe the peculiar relationships between the family primary CG and the hospital staff, when an elderly patient is admitted to hospital, to demonstrate how this may affect his/her clinical management during the hospital stay and formulate new research projects and organizational rearrangements.

Published
2014
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18. Who should be screened for secondary causes of hypertension?

Author

Andrea Semplicini, Chiara Sandonà, Federica Stella, and Tommaso Grandi

Subjects
Resistant hypertension, Secondary hypertension, Arterial hypertension, Medicine (General), R5-920
Abstract

The case of a 34-year-old patient with uncontrolled hypertension is described in this article, together with the diagnostic path followed in order to make the diagnosis, that finally reveals an arteriovenous fistula due to an old kidney biopsy. Uncontrolled or resistant hypertension may be caused by unrecognized secondary hypertension: we revise the clinical and laboratory criteria for selecting hypertensive patients in whom to look for secondary hypertension through the most appropriate diagnostic work up. A synthesis of the main causes of secondary hypertension is also provided in the discussion.

Published
2011
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20. Obsessive-Compulsive and Post Traumatic Avoidance Symptoms Influence the Response to Antihypertensive Therapy: Relevance in Uncontrolled Hypertension

Author

Lorenzo Calo, Andrea Semplicini, Francesca Vettore, Luisa Macchini, Matteo Leoni, Emanuela Parotto, Giulia Inverso, Marco Nuti, Paolo Santonastaso, Angela Favaro, and Anna Realdi

Subjects
avoidance symptoms, compliance, obsessive-compulsive symptoms, uncontrolled hypertension, type D personality, Medicine, Pharmacy and materia medica, RS1-441
Abstract

Aim: To investigate the association of uncontrolled hypertension with psychological factors associated with high cardiovascular morbidity and mortality (type D personality, depression, posttraumatic stress-related symptoms). Methods: 205 consecutive outpatient hypertensives completed three questionnaires evaluating Type D personality (DS 16), post traumatic symptoms (revised Impact of Events Scale), symptoms of anxiety, hostility, depression and obsessive-compulsive traits (subscales of the Symptom Checklist). Uncontrolled hypertension was diagnosed when clinic sitting blood pressure was above 140/90 mmHg (130/80 in the presence of diabetes or nephropathy), despite reported adherence to treatment with at least three antihypertensive medications, including a diuretic. Results: Uncontrolled hypertension (39%), was predicted by lower scores at Symptom Checklist obsessive-compulsive subscale and higher number of post traumatic avoidance symptoms, older age, diabetes, higher systolic pressure at first visit and longstanding hypertension. Type D personality correlated with depression, hostility, anxiety, compulsiveness, history of malignancy, and older age, but not with uncontrolled hypertension. Conclusions: Uncontrolled hypertension is associated with low obsessionality and avoidance symptoms, which reduce compliance to treatment. On the contrary, type D personality is not correlated with uncontrolled hypertension, as it includes compulsiveness, which improves compliance. A multidisciplinary approach to the hypertensive patient is mandatory to establish if the psychological profile affects compliance.

Published
2009
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24. Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.

Author

Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Angela Polo, Sara Vianello, Gianni Sorarù, Claudio Semplicini, Boris Pantic, Antonella Taglia, Ester Picillo, Francesca Magri, Ksenija Gorni, Sonia Messina, Gian Luca Vita, Giuseppe Vita, Giacomo P Comi, Mario Ermani, Vincenzo Calvo, Corrado Angelini, Eric P Hoffman, and Elena Pegoraro

Subjects
Medicine, Science
Abstract

Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset.A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction < 50% and/or end diastolic volume > 70 mL/m2 as event (confirmed by a previous normal exam < 12 months prior); DCM-free patients were censored at the age of last echocardiographic follow-up.Patients were followed up to an average age of 15.9 ± 6.7 years. Seventy-one/178 patients developed DCM, and median age at onset was 20.0 years. Glucocorticoid corticosteroid treatment (n = 88 untreated; n = 75 treated; n = 15 unknown) did not have a significant independent effect on DCM onset. Cardiological medications were not administered before DCM onset in this population. We observed trends towards a protective effect of the dominant G allele at SPP1 rs28357094 and recessive T allele at LTBP4 rs10880, which was statistically significant in steroid-treated patients for LTBP4 rs10880 (< 50% T/T patients developing DCM during follow-up [n = 13]; median DCM onset 17.6 years for C/C-C/T, log-rank p = 0.027).We report a putative protective effect of DMD genetic modifiers on the development of cardiac complications, that might aid in risk stratification if confirmed in independent cohorts.

Published
2015
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25. BURDEN, PROFESSIONAL SUPPORT, AND SOCIAL NETWORK IN FAMILIES OF CHILDREN AND YOUNG ADULTS WITH MUSCULAR DYSTROPHIES

Author

MAGLIANO, LORENZA, PATALANO, MELANIA, SAGLIOCCHI, ALESSANDRA, SCUTIFERO, MARIANNA, ZACCARO, ANTONELLA, DʼANGELO, MARIA GRAZIA, CIVATI, FEDERICA, BRIGHINA, ERIKA, VITA, GIUSEPPE, VITA, GIAN LUCA, MESSINA, SONIA, SFRAMELI, MARIA, PANE, MARIKA, LOMBARDO, MARIA ELENA, SCALISE, ROBERTA, DʼAMICO, ADELE, COLIA, GIULIA, CATTERUCCIA, MICHELA, BALOTTIN, UMBERTO, BERARDINELLI, ANGELA, MOTTA, MARIA CHIARA, ANGELINI, CORRADO, GAIANI, ALESSANDRA, SEMPLICINI, CLAUDIO, BELLO, LUCA, BATTINI, ROBERTA, ASTREA, GUJA, and POLITANO, LUISA

Published
2015
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26. “I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy

Author

Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D’Angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D’Amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Motta, Maria Chiara, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Ricci, Giulia, and Politano, Luisa

Published
2014
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28. Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.

Author

Abbonante, Vittorio, Malara, Alessandro, Chrisam, Martina, Metti, Samuele, Soprano, Paolo, Semplicini, Claudio, Bello, Luca, Bozzi, Valeria, Battiston, Monica, Pecci, Alessandro, Pegoraro, Elena, De Marco, Luigi, Braghetta, Paola, Bonaldo, Paolo, and Balduini, Alessandra

Subjects
GREEN fluorescent protein, HEAT shock proteins, UNFOLDED protein response, CALCIUM channels, MOLECULAR chaperones, ENDOPLASMIC reticulum, PEPTIDASE, B cells, LYSOSOMES
Abstract

Endoplasmic reticulum stress is an emerging significant player in the molecular pathology of connective tissue disorders. In response to endoplasmic reticulum stress, cells can upregulate macroautophagy/autophagy, a fundamental cellular homeostatic process used by cells to degrade and recycle proteins or remove damaged organelles. In these scenarios, autophagy activation can support cell survival. Here we demonstrated by in vitro and in vivo approaches that megakaryocytes derived from col6a1−⁄− (collagen, type VI, alpha 1) null mice display increased intracellular retention of COL6 polypeptides, endoplasmic reticulum stress and apoptosis. The unfolded protein response is activated in col6a1−⁄− megakaryocytes, as evidenced by the upregulation of molecular chaperones, by the increased splicing of Xbp1 mRNA and by the higher level of the pro-apoptotic regulator DDIT3/CHOP. Despite the endoplasmic reticulum stress, basal autophagy is impaired in col6a1−⁄− megakaryocytes, which show lower BECN1 levels and reduced autophagosome maturation. Starvation and rapamycin treatment rescue the autophagic flux in col6a1−⁄− megakaryocytes, leading to a decrease in intracellular COL6 polypeptide retention, endoplasmic reticulum stress and apoptosis. Furthermore, megakaryocytes cultured from peripheral blood hematopoietic progenitors of patients affected by Bethlem myopathy and Ullrich congenital muscular dystrophy, two COL6-related disorders, displayed increased apoptosis, endoplasmic reticulum stress and impaired autophagy. These data demonstrate that genetic disorders of collagens, endoplasmic reticulum stress and autophagy regulation in megakaryocytes may be interrelated. Abbreviations: 7-AAD: 7-amino-actinomycin D; ATF: activating transcriptional factor; BAX: BCL2 associated X protein; BCL2: B cell leukemia/lymphoma 2; BCL2L1/Bcl-xL: BCL2-like 1; BM: bone marrow; COL6: collagen, type VI; col6a1−⁄−: mice that are null for Col6a1; DDIT3/CHOP/GADD153: DNA-damage inducible transcript 3; EGFP: enhanced green fluorescent protein; ER: endoplasmic reticulum; reticulophagy: endoplasmic reticulum-selective autophagy; HSPA5/Bip: heat shock protein 5; HSP90B1/GRP94: heat shock protein 90, beta (Grp94), member 1; LAMP2: lysosomal associated membrane protein 2; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; Mk: megakaryocytes; MTOR: mechanistic target of rapamycin kinase; NIMV: noninvasive mechanical ventilation; PI3K: phosphoinositide 3-kinase; PPP1R15A/GADD34: protein phosphatase 1, regulatory subunit 15A; RT-qPCR: reverse transcription-quantitative real-time PCR; ROS: reactive oxygen species; SERPINH1/HSP47: serine (or cysteine) peptidase inhibitor, clade H, member 1; sh-RNA: short hairpin RNA; SOCE: store operated calcium entry; UCMD: Ullrich congenital muscular dystrophy; UPR: unfolded protein response; WIPI2: WD repeat domain, phosphoinositide-interacting 2; WT: wild type; XBP1: X-box binding protein 1. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

Author

Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M. A., Carubbi, F., Ermani, M., Mongini, T., Toscano, A., and The Italian GSDII Group

Published
2012
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35. Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study

Author

Frau, Francesca, Zaninello, Roberta, Salvi, Erika, Ortu, Maria Francesca, Braga, Daniele, Velayutham, Dinesh, Argiolas, Giuseppe, Fresu, Giovanni, Troffa, Chiara, Bulla, Emanuela, Bulla, Patrizia, Pitzoi, Silvia, Piras, Daniela Antonella, Glorioso, Valeria, Chittani, Martina, Bernini, Giampaolo, Bardini, Michele, Fallo, Francesco, Malatino, Lorenzo, Stancanelli, Benedetta, Regolisti, Giuseppe, Ferri, Claudio, Desideri, Giovanbattista, Scioli, Giuseppe Antonio, Galletti, Ferruccio, Sciacqua, Angela, Perticone, Francesco, Esposti, Ezio Degli, Sturani, Alessandra, Semplicini, Andrea, Veglio, Franco, Mulatero, Paolo, Williams, Tracy A, Lanzani, Chiara, Hiltunen, Timo P, Kontula, Kimmo, Boerwinkle, Eric, Turner, Stephen T, Manunta, Paolo, Barlassina, Cristina, Cusi, Daniele, and Glorioso, Nicola

Published
2014
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37. Syncope and sudden death from the emergency physician’s perspective: is there room for new biomarkers?

Author

Rossella Marino, Federico Floridi, Clifford Mann, Andrea Semplicini, Cinzia Sighieri, Enrico Lupia, Pietro Lentini, Carlo Racani, and Salvatore Di Somma

Subjects
syncope, sudden cardiac death, biomarker, Medicine (General), R5-920
Abstract

Syncope is a transient loss of consciousness due to temporary global cerebral hypoperfusion characterized by rapid onset, short duration, and spontaneous complete recovery. Syncope represents 1-2% of emergency department (ED) visits and is coupled with a high risk for mortality, prolonged hospital admission, and immediate false diagnosis. Many patients who present to the ED with aspecific symptoms are mainly hospitalized because of diagnostic uncertainty. It is always very important to immediately distinguish syncope of cardiac and non-cardiac origins. Cardiac syncope has higher risk for mortality especially for sudden cardiac death, while non-cardiac one shows risk of repeated events of syncope with poor quality of life. Sudden cardiac death is defined as rapid and unexpected natural death due to cardiac etiology. Researchers from the GREAT Network hypothesized to evaluate some novel biomarkers in order to test acute cardiac condition that can suggest the presence of heart structural diseases, heart failure, and electrical disorders. The primary objective of this study is to test the diagnostic performance from patient history, clinical judgment, and novel biomarkers in the diagnosis of cardiac syncope in patients admitted to the ED. The trial is designed as a prospective international multicenter observational study accounting for 730 patients aged over 40 admitted to the ED with syncope within the last 12 h. A multimarker approach combining markers of different origin and mode of relapse, should add diagnostic information to correctly identify the cardiac conditions and to therefore be pertinent in the early diagnosis of cardiac syncope and in the prediction of cardiac events including sudden death. Future data should be needed to confirm the hypothesis presented here.

Published
2013
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38. Therapeutic advances in the management of Pompe disease and other metabolic myopathies

Author

Corrado Angelini, Anna Chiara Nascimbeni, and Claudio Semplicini

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease and also other pathologies. This article reviews new advances in the treatment of GSDII, the consensus about ERT, and its limitations. In addition, the most recent knowledge regarding the pathophysiology, phenotype, and genotype of the disease is discussed. Pharmacological, immunotherapy, nutritional, and physical/rehabilitative treatments for late-onset Pompe disease and other metabolic myopathies are covered, including treatments for defects in glycogen metabolism, such as glycogenosis type V (McArdle disease), and glycogenosis type III (debrancher enzyme deficiency), and defects in lipid metabolism, such as carnitine palmitoyltransferase II deficiency and electron transferring flavoprotein dehydrogenase deficiency, or riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Published
2013
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39. The Renin-Angiotensin System, Capri 2005: Contributions from the VIII International Forum

Author

Alderman, Michael H., Cifkova, Renata, Cosentino, Francesco, Crea, Filippo, Ferri, Claudio, Grassi, D., Lippi, C., Croce, G., Casale, R., Broccoletti, S., Valeri, L., Desideri, G., Kurtz, Theodore W., Laurent, Stéphane, Lüscher, Thomas F., Madeddu, Paolo, Spillmann, Frank, Graiani, Gallia, Van Linthout, Sophie, Meloni, Marco, Westermann, Dirk, Campasi, Ilarla, Lagrasta, Costanza, Tschope, Carsten, Emanueli, Costanza, Madeddu, Paolo, Mancia, G., Mantero, Franco, Albiger, Nora, Mezzetti, Andrea, Mueller, Franco B., Hoo, David, Rao, Ram, Raji, Leopold, Rubattu, Speranza, Ruilope, Luis M., Schiffrin, Ernesto L., Semplicini, Andrea, Taddei, Stefano, Tavazzi, Luigi, Veglio, Franco, Verhovez, Andrea, and Mulatero, Paolo

Published
2005
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40. Progress in enzyme replacement therapy in glycogen storage disease type II

Author

Corrado Angelini, Claudio Semplicini, Paola Tonin, Massimiliano Filosto, Elena Pegoraro, Gianni Sorarù, and Marina Fanin

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an adult-onset form. Cases with juvenile or adult onset GSDII mimic limb-girdle muscular dystrophy or polymyositis and are often characterized by respiratory involvement. GSDII patients are diagnosed by biochemical assay and by molecular characterization of the GAA gene. Ascertaining a natural history of patients with heterogeneous late-onset GSDII is useful for evaluating their progressive functional disability. A significant decline is observed over the years in skeletal and respiratory muscle function. Enzyme replacement therapy (ERT) has provided encouraging results in the infantile form. It is not yet known if ERT is effective in late-onset GSDII. We examined a series of 11 patients before and after ERT evaluating muscle strength by MRC, timed and graded functional tests, 6-minute walk test (6MWT), respiratory function by spirometric parameters and quality of life. We observed a partial improvement during a prolonged follow-up from 3 to 18 months. The use of different clinical parameters in the proposed protocol seems crucial to determine the efficacy of ERT, since not all late-onset patients respond similarly to ERT.

Published
2009
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