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2. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

Author

Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo, Morava, Eva, editor, Baumgartner, Matthias, editor, Patterson, Marc, editor, Rahman, Shamima, editor, Zschocke, Johannes, editor, and Peters, Verena, editor

Published
2016
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5. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Author

Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., and Chapman, Kimberly A.

Published
2017
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6. Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI

Author

Brunetti-Pierri, Nicola, primary, Ferla, Rita, additional, Ginocchio, Virginia Maria, additional, Rossi, Alessandro, additional, Fecarotta, Simona, additional, Romano, Roberta, additional, Parenti, Giancarlo, additional, Yildiz, Yilmaz, additional, Zancan, Stefano, additional, Pecorella, Valentina, additional, Dell’Anno, Margherita, additional, Graziano, Mafalda, additional, Alliegro, Marialuisa, additional, Andria, Generoso, additional, Santamaria, Francesca, additional, Brunetti-Pierri, Raffaella, additional, Simonelli, Francesca, additional, Nigro, Vincenzo, additional, Vargas, Maria, additional, Servillo, Giuseppe, additional, Borgia, Francesco, additional, Soscia, Ernesto, additional, Gargaro, Marco, additional, Funghini, Silvia, additional, Tedesco, Novella, additional, Le Brun, Pierre Romain, additional, Rupar, Charles A., additional, Prasad, Chitra, additional, O’Callaghan, Mar, additional, Mitchell, John J., additional, Danos, Olivier, additional, Marteau, Jean-Brice, additional, Galimberti, Stefania, additional, Valsecchi, Maria Grazia, additional, Veron, Philippe, additional, Mingozzi, Federico, additional, Fallarino, Francesca, additional, la Marca, Giancarlo, additional, Sivri, H. Serap, additional, and Auricchio, Alberto, additional

Published
2022
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12. The cardiologist and mucopolysaccharidosis. Recommendations of the GICEM (Italian Group of Cardiologists Experienced Metabolic Diseases) on diagnosis, follow-up and cardiological management

Author

Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, Limongelli, Giuseppe, Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, and Limongelli, Giuseppe

Abstract

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations.

Published
2017

13. [Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]

Author

Russo, Pierluigi, Andria, Generoso, Baldinelli, Alessandra, Boffi, Maria Lucia, Cerini, Emma, Della Casa, Roberto, Imperatori, Andrea, Luciani, Giovanni Battista, Morra, Elisa, Parini, Rossella, Pieroni, Maurizio, Prioli, Maria Antonia, Ragni, Luca, Rapezzi, Claudio, Rinelli, Gabriele, Rubino, Marta, Sarais, Cristiano, Sciacca, Pietro, Seddio, Francesco, and Limongelli, Giuseppe

Subjects
Mucopolysaccharidosis, cardiology, cardiac surgery, Heart Diseases, cardiology, Humans, Mucopolysaccharidoses, cardiac surgery, Mucopolysaccharidosis, Follow-Up Studies
Abstract

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations.

Published
2017

15. Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

Author

Melis, Daniela, primary, Carbone, Fortunata, additional, Minopoli, Giorgia, additional, La Rocca, Claudia, additional, Perna, Francesco, additional, De Rosa, Veronica, additional, Galgani, Mario, additional, Andria, Generoso, additional, Parenti, Giancarlo, additional, and Matarese, Giuseppe, additional

Published
2017
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17. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Author

Morris, Andrew A. M., primary, Kožich, Viktor, additional, Santra, Saikat, additional, Andria, Generoso, additional, Ben-Omran, Tawfeg I. M., additional, Chakrapani, Anupam B., additional, Crushell, Ellen, additional, Henderson, Mick J., additional, Hochuli, Michel, additional, Huemer, Martina, additional, Janssen, Miriam C. H., additional, Maillot, Francois, additional, Mayne, Philip D., additional, McNulty, Jenny, additional, Morrison, Tara M., additional, Ogier, Helene, additional, O’Sullivan, Siobhan, additional, Pavlíková, Markéta, additional, de Almeida, Isabel Tavares, additional, Terry, Allyson, additional, Yap, Sufin, additional, Blom, Henk J., additional, and Chapman, Kimberly A., additional

Published
2016
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19. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Author

Cappuccio, Gerarda, primary, Vitiello, Francesco, additional, Casertano, Alberto, additional, Fontana, Paolo, additional, Genesio, Rita, additional, Bruzzese, Dario, additional, Ginocchio, Virginia Maria, additional, Mormile, Angela, additional, Nitsch, Lucio, additional, Andria, Generoso, additional, and Melis, Daniela, additional

Published
2016
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20. Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Author

Melis, Daniela, primary, Rossi, Alessandro, additional, Pivonello, Rosario, additional, Salerno, Mariacarolina, additional, Balivo, Francesca, additional, Spadarella, Simona, additional, Muscogiuri, Giovanna, additional, Casa, Roberto Della, additional, Formisano, Pietro, additional, Andria, Generoso, additional, Colao, Annamaria, additional, and Parenti, Giancarlo, additional

Published
2015
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22. 372. Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial

Author

Ferla, Rita, primary, Claudiani, Pamela, additional, Savarese, Marco, additional, Kozarsky, Karen, additional, Parini, Rossella, additional, Scarpa, Maurizio, additional, Alice Donati, Maria, additional, Sorge, Giovanni, additional, Hopwood, John J., additional, Parenti, Giancarlo, additional, Fecarotta, Simona, additional, Nigro, Vincenzo, additional, Serap Sivri, Hatice, additional, Van Der Ploeg, Ans, additional, Andria, Generoso, additional, Brunetti-Pierri, Nicola, additional, and Auricchio, Alberto, additional

Published
2015
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23. Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial

Author

Ferla, Rita, primary, Claudiani, Pamela, additional, Savarese, Marco, additional, Kozarsky, Karen, additional, Parini, Rossella, additional, Scarpa, Maurizio, additional, Donati, Maria Alice, additional, Sorge, Giovanni, additional, Hopwood, John J., additional, Parenti, Giancarlo, additional, Fecarotta, Simona, additional, Nigro, Vincenzo, additional, Sivri, Hatice Serap, additional, Van Der Ploeg, Ans, additional, Andria, Generoso, additional, Brunetti-Pierri, Nicola, additional, and Auricchio, Alberto, additional

Published
2015
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24. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Author

Fecarotta, Simona, primary, Romano, Alfonso, additional, Della Casa, Roberto, additional, Del Giudice, Ennio, additional, Bruschini, Diana, additional, Mansi, Giuseppina, additional, Bembi, Bruno, additional, Dardis, Andrea, additional, Fiumara, Agata, additional, Di Rocco, Maja, additional, Uziel, Graziella, additional, Ardissone, Anna, additional, Roccatello, Dario, additional, Alpa, Mirella, additional, Bertini, Enrico, additional, D’Amico, Adele, additional, Dionisi-Vici, Carlo, additional, Deodato, Federica, additional, Caviglia, Stefania, additional, Federico, Antonio, additional, Palmeri, Silvia, additional, Gabrielli, Orazio, additional, Santoro, Lucia, additional, Filla, Alessandro, additional, Russo, Cinzia, additional, Parenti, Giancarlo, additional, and Andria, Generoso, additional

Published
2015
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25. Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Author

Scala, Iris, primary, Concolino, Daniela, additional, Casa, Roberto Della, additional, Nastasi, Anna, additional, Ungaro, Carla, additional, Paladino, Serena, additional, Capaldo, Brunella, additional, Ruoppolo, Margherita, additional, Daniele, Aurora, additional, Bonapace, Giuseppe, additional, Strisciuglio, Pietro, additional, Parenti, Giancarlo, additional, and Andria, Generoso, additional

Published
2015
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27. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

Author

Scolamiero, Emanuela, primary, Cozzolino, Carla, additional, Albano, Lucia, additional, Ansalone, Antonella, additional, Caterino, Marianna, additional, Corbo, Graziella, additional, di Girolamo, Maria Grazia, additional, Di Stefano, Cristina, additional, Durante, Adriano, additional, Franzese, Giovanni, additional, Franzese, Ignazio, additional, Gallo, Giovanna, additional, Giliberti, Paolo, additional, Ingenito, Laura, additional, Ippolito, Giovanni, additional, Malamisura, Basilio, additional, Mazzeo, Pietro, additional, Norma, Antonella, additional, Ombrone, Daniela, additional, Parenti, Giancarlo, additional, Pellecchia, Silvana, additional, Pecce, Rita, additional, Pierucci, Ippolito, additional, Romanelli, Roberta, additional, Rossi, Anna, additional, Siano, Massimo, additional, Stoduto, Teodoro, additional, Villani, Guglielmo R. D., additional, Andria, Generoso, additional, Salvatore, Francesco, additional, Frisso, Giulia, additional, and Ruoppolo, Margherita, additional

Published
2015
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28. A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Author

Parenti, Giancarlo, primary, Fecarotta, Simona, additional, la Marca, Giancarlo, additional, Rossi, Barbara, additional, Ascione, Serena, additional, Donati, Maria Alice, additional, Morandi, Lucia Ovidia, additional, Ravaglia, Sabrina, additional, Pichiecchio, Anna, additional, Ombrone, Daniela, additional, Sacchini, Michele, additional, Pasanisi, Maria Barbara, additional, De Filippi, Paola, additional, Danesino, Cesare, additional, Della Casa, Roberto, additional, Romano, Alfonso, additional, Mollica, Carmine, additional, Rosa, Margherita, additional, Agovino, Teresa, additional, Nusco, Edoardo, additional, Porto, Caterina, additional, and Andria, Generoso, additional

Published
2014
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29. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021

30. Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI

Author

Nicola Brunetti-Pierri, M. D. 1 2, Rita Ferla, Ph. D. 1, 2, Virginia Maria Ginocchio, M. D., Alessandro Rossi, Ph. D. 2, Simona Fecarotta, Ph. D. 3, Roberta Romano, M. D. 2, Giancarlo Parenti, Yilmaz Yildiz, Ph. D. 4, Stefano Zancan, M. Sc. 5, Valentina Pecorella, M. Sc. 1, Margherita Dell’Anno, Mafalda Graziano, Marialuisa Alliegro, Generoso Andria, Francesca Santamaria, Raffaella Brunetti-Pierri, Ph. D. 6, Francesca Simonelli, M. D. 6, Vincenzo Nigro, M. D. 1 7, Maria Vargas, M. D. 8, Giuseppe Servillo, Francesco Borgia, M. D. 9, Ernesto Soscia, M. D. 10, Marco Gargaro, Ph. D. 11, Silvia Funghini, Ph. D. 12, Novella Tedesco, M. Sc. 13, Pierre Romain Le Brun, Charles A. Rupar, Ph. D., F. C. C. M. G. 15, Chitra Prasad, M. D. F. R. C. P., Mar O’Callaghan, Ph. D. 16, John J. Mitchell, F. R. C. P. 17, Olivier Danos, Ph. D. 19, Jean-Brice Marteau, Ph. D. 20, Stefania Galimberti, Ph. D. 21, Maria Grazia Valsecchi, Philippe Veron, Ph. D. 13, Federico Mingozzi, Francesca Fallarino, Giancarlo la Marca, Pharm. Sc. 12, H. Serap Sivri, M. D. 4, and Alberto Auricchio, M. D. 1, BRUNETTI PIERRI, Nicola, 1 2, M. D., Ferla, Rita, h. D. 1., P, Ginocchio, virginia maria, D., M., Rossi, Alessandro, h. D. 2., P, Fecarotta, Simona, h. D. 3., P, Romano, Roberta, D. 2., M., Parenti, Giancarlo, Yildiz, Yilmaz, h. D. 4., P, Zancan, Stefano, Sc. 5., M., Pecorella, Valentina, Sc. 1., M., Dell’Anno, Margherita, Graziano, Mafalda, Alliegro, Marialuisa, Andria, Generoso, Santamaria, Francesca, Brunetti-Pierri, Raffaella, h. D. 6., P, Simonelli, Francesca, D. 6., M., Nigro, Vincenzo, 1 7, M. D., Vargas, Maria, D. 8., M., Servillo, Giuseppe, Borgia, Francesco, D. 9., M., Soscia, Ernesto, 10, M. D., Gargaro, Marco, 11, Ph. D., Funghini, Silvia, 12, Ph. D., Tedesco, Novella, 13, M. Sc., Romain Le Brun, Pierre, Rupar, Charles A., h. D., P, 15, F. C. C. M. G., Prasad, Chitra, D. F. R. C. P., M., O’Callaghan, Mar, 16, Ph. D., Mitchell, John J., 17, F. R. C. P., Danos, Olivier, 19, Ph. D., Marteau, Jean-Brice, 20, Ph. D., Galimberti, Stefania, 21, Ph. D., Grazia Valsecchi, Maria, Veron, Philippe, 13, Ph. D., Mingozzi, Federico, Fallarino, Francesca, la Marca, Giancarlo, 12, Pharm. Sc., Serap Sivri, H., D. 4., M., Alberto Auricchio, And, and D. 1., M.

Published
2022

31. Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial

Author

Giancarlo Parenti, Karen Kozarsky, John J. Hopwood, Rita Ferla, Generoso Andria, Alberto Auricchio, Ans T. van der Ploeg, Rossella Parini, Marco Savarese, Maurizio Scarpa, Hatice Serap Sivri, Vincenzo Nigro, Pamela Claudiani, Nicola Brunetti-Pierri, Maria Alice Donati, Giovanni Sorge, Simona Fecarotta, Ferla, R, Claudiani, P, Savarese, M, Kozarsky, K., Parini, R, Scarp, a M, Donati, Ma, Sorge, G, Hopwood, Jj, Parenti, Giancarlo, Fecarotta, S, Nigro, V, Sivri, H, Van Der Ploeg, A, Andria, Generoso, BRUNETTI PIERRI, Nicola, Auricchio, Alberto, Çocuk Sağlığı ve Hastalıkları, Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, An, Brunetti Pierri, Nicola, and Pediatrics

Subjects
Arylsulfatase B, Turkey, N-Acetylgalactosamine-4-Sulfatase, Genetic enhancement, DNA Mutational Analysis, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Medicine, Neutralizing, Adeno-associated virus, Research Articles, Netherlands, 0303 health sciences, Mucopolysaccharidosis VI, biology, Medicine (all), Dependovirus, Dependoviru, 3. Good health, Italy, 030220 oncology & carcinogenesis, Cross Reaction, Molecular Medicine, Antibody, Human, Cross Reactions, Antibodies, Neutralizing, Genetic Therapy, Humans, Mutation, Patient Selection, Molecular Biology, Genetics, Antibodies, Virus, Frameshift mutation, DNA Mutational Analysi, 03 medical and health sciences, Netherland, 030304 developmental biology, business.industry, Virology, Immunology, biology.protein, Cohort Studie, business
Abstract

Recombinant vectors based on adeno-associated virus serotype 8 (AAV8) have been successfully used in the clinic and hold great promise for liver-directed gene therapy. Preexisting immunity against AAV8 or the development of antibodies against the therapeutic transgene product might negatively affect the outcomes of gene therapy. In the prospect of an AAV8-mediated, liver-directed gene therapy clinical trial for mucopolysaccharidosis VI (MPS VI), a lysosomal storage disorder caused by arylsulfatase B (ARSB) deficiency, we investigated in a multiethnic cohort of MPS VI patients the prevalence of neutralizing antibodies (Nab) to AAV8 and the presence of ARSB cross-reactive immunologic material (CRIM), which will either affect the efficacy of gene transfer or the duration of phenotypic correction. Thirty-six MPS VI subjects included in the study harbored 45 (62.5%) missense, 13 (18%) nonsense, 9 (12.5%) frameshift (2 insertions and 7 deletions), and 5 (7%) splicing ARSB mutations. The detection of ARSB protein in 24 patients out of 34 (71%) was predicted by the type of mutations. Preexisting Nab to AAV8 were undetectable in 19/33 (58%) analyzed patients. Twelve out of 31 patients (39%) tested were both negative for Nab to AAV8 and CRIM-positive. In conclusion, this study allows estimating the number of MPS VI patients eligible for a gene therapy trial by intravenous injections of AAV8.

Published
2015

32. Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

Author

Giuseppe Matarese, Daniela Melis, Claudia La Rocca, Mario Galgani, Francesco Perna, Veronica De Rosa, Generoso Andria, Giancarlo Parenti, Giorgia Minopoli, Fortunata Carbone, Melis, Daniela, Carbone, Fortunata, Minopoli, Giorgia, La Rocca, Claudia, Perna, Francesco, De Rosa, Veronica, Galgani, Mario, Andria, Generoso, Parenti, Giancarlo, and Matarese, Giuseppe

Subjects
CD4-Positive T-Lymphocytes, Male, 0301 basic medicine, T-Lymphocytes, Autoimmunity, Glycogen Storage Disease Type I, T-Lymphocytes, Regulatory, Antiporters, chemistry.chemical_compound, 0302 clinical medicine, Receptors, Homeostasis, Immunology and Allergy, Glucose homeostasis, Glycogen storage disease, IL-2 receptor, Child, Glycogen storage disease type I, Glycogen, FOXP3, Forkhead Transcription Factors, hemic and immune systems, Regulatory, medicine.anatomical_structure, Antigen, Child, Preschool, Female, Increased Autoimmunity Risk, Disease Type 1b, Glycolysis, Impaired Regulatory T, Cell Function, Adult, medicine.medical_specialty, Adolescent, Monosaccharide Transport Proteins, Regulatory T cell, T cell, Immunology, Receptors, Antigen, T-Cell, chemical and pharmacologic phenomena, Biology, Young Adult, 03 medical and health sciences, Lymphopenia, Internal medicine, medicine, Humans, Preschool, Infant, T-Cell, medicine.disease, Mutation, 030104 developmental biology, Endocrinology, chemistry, Cutting Edge, 030215 immunology
Abstract

Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6–phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6–phosphate transporter mutation on immune cell homeostasis and CD4+ T cell functions. In GSD-1b subjects, we found lymphopenia and a reduced capacity of T cells to engage glycolysis upon TCR stimulation. These phenomena associated with reduced expression of the FOXP3 transcription factor, lower suppressive function in peripheral CD4+CD25+FOXP3+ regulatory T cells, and an impaired capacity of CD4+CD25− conventional T cells to induce expression of FOXP3 after suboptimal TCR stimulation. These data unveil the metabolic determinant leading to an increased autoimmunity risk in GSD-1b patients.

Published
2017

33. Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

Author

Mariarosaria Negri, Giuliana Cangemi, Claudia Pivonello, Antonio Del Puente, Giancarlo Parenti, Daniela Melis, Rosario Pivonello, Generoso Andria, Annamaria Colao, A. Rossi, Melis, Daniela, Rossi, Alessandro, Pivonello, Rosario, DEL PUENTE, Antonio, Pivonello, Claudia, Cangemi, Giuliana, Negri, Mariarosaria, Colao, Annamaria, Andria, Generoso, and Parenti, Giancarlo

Subjects
musculoskeletal diseases, 0301 basic medicine, Calcitonin, Male, medicine.medical_specialty, Histology, Bone density, Adolescent, Physiology, Endocrinology, Diabetes and Metabolism, Osteoporosis, Osteocalcin, Glycogen storage disease type III, Bone and Bones, Glycogen debranching enzyme, Bone remodeling, 03 medical and health sciences, Glycogen Storage Disease Type III, Absorptiometry, Photon, N-terminal telopeptide, Bone Density, Internal medicine, medicine, Bone mineral density, Insulin, Homeostasis, Humans, Absorptiometry, Preschool, Child, Exercise, Bone mineral, business.industry, GSDIII, Hyperlipidemia, IGF-1, Biomarkers, Case-Control Studies, Child, Preschool, Cholesterol, Female, Hormones, medicine.disease, Photon, Osteopenia, 030104 developmental biology, Endocrinology, business
Abstract

Introduction Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growth retardation, ovarian polycystosis, diabetes mellitus and osteopenia/osteoporosis has been reported. The pathogenesis of osteopenia/osteoporosis is still unclear. Objectives The aim of the current study was to evaluate the bone mineral density (BMD) in GSDIII patients and the role of metabolic and endocrine factors and physical activity on bone status. Methods Nine GSDIII patients were enrolled (age 2–20 years) and compared to eighteen age and sex matched controls. BMD was evaluated by Dual-emission-X-ray absorptiometry (DXA) and Quantitative ultrasound (QUS). Clinical and biochemical parameters of endocrine system function and bone metabolism were analyzed. Serum levels of the metabolic control markers were evaluated. Physical activity was evaluated by administering the International Physical Activity Questionnaire (IPAQ). Results GSDIII patients showed reduced BMD detected at both DXA and QUS, decreased serum levels of IGF-1, free IGF-1, insulin, calcitonin, osteocalcin (OC) and increased serum levels of C-terminal cross-linking telopeptide of type I collagen (CTX). IGF-1 serum levels inversely correlated with AST and ALT serum levels. DXA Z-score inversely correlated with cholesterol and triglycerides serum levels and directly correlated with IGF-1/IGFBP3 molar ratio. No difference in physical activity was observed between GSDIII patients and controls. Discussion Our data confirm the presence of reduced BMD in GSDIII. On the basis of the results, we hypothesized that metabolic imbalance could be the key factor leading to osteopenia, acting through different mechanisms: chronic hyperlipidemia, reduced IGF-1, Insulin and OC serum levels. Thus, the mechanism of osteopenia/osteoporosis in GSDIII is probably multifactorial and we speculate on the factors involved in its pathogenesis.

Published
2015

34. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Author

Christine Hall, Massimiliano Rossi, Patrick Edery, Giancarlo Parenti, Christine Vianey-Saban, Generoso Andria, Sophie Collardeau-Frachon, Frédérique Le Breton, Martine Bucourt, Amaka C. Offiah, Marie Pierre Cordier, Raymonde Bouvier, Martine Le Merrer, Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Rossi, Massimiliano, Hall, Christine M, Bouvier, Raymonde, Collardeau Frachon, Sophie, Le Breton, Frédérique, Bucourt, Martine, Cordier, Marie Pierre, Vianey Saban, Christine, Parenti, Giancarlo, Andria, Generoso, Le Merrer, Martine, Edery, Patrick, and Offiah, Amaka C.

Subjects
Prenatal Diagnosi, Male, [SDV]Life Sciences [q-bio], Lipid Metabolism, Inborn Error, Musculoskeletal System/*radiography, Musculoskeletal Abnormalities/*complications/*radiography, Pregnancy, Prenatal Diagnosis, Chondrodysplasia punctata, Child, Musculoskeletal System, 0303 health sciences, Rhizomelic chondrodysplasia punctata, Polydactyly, 030305 genetics & heredity, Cholesterol/*biosynthesis, Lathosterolosis, CHILD syndrome, 3. Good health, Cholesterol, Child, Preschool, Female, Human, musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Inborn Errors/*complications, Lipid Metabolism, Inborn Errors, Musculoskeletal Abnormalitie, 03 medical and health sciences, Young Adult, Internal medicine, Peroxisomal disorder, medicine, Humans, Radiology, Nuclear Medicine and imaging, Preschool, 030304 developmental biology, business.industry, Infant, medicine.disease, Lipid Metabolism, Musculoskeletal Abnormalities, Desmosterolosis, Radiography, Endocrinology, Pediatrics, Perinatology and Child Health, business, Epiphyseal stippling
Abstract

International audience; Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis.

Published
2015

35. Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation

Author

A. Rossi, Roberto Della Casa, Simona Spadarella, Giovanna Muscogiuri, F. Balivo, Daniela Melis, Giancarlo Parenti, Mariacarolina Salerno, Rosario Pivonello, Generoso Andria, Pietro Formisano, Annamaria Colao, Melis, Daniela, Rossi, A, Pivonello, R, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, G, Casa, Rd, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, and Parenti, Giancarlo

Subjects
Male, medicine.medical_specialty, Adolescent, 11BHSD1, GSDI, Insulin-resistance, Metabolic syndrome, Case-Control Studies, Child, Disease Susceptibility, Female, Glucose-6-Phosphate, Glycogen Storage Disease Type I, Humans, Metabolic Syndrome, Microsomes, Prospective Studies, Biology, Gastroenterology, chemistry.chemical_compound, Insulin resistance, Internal medicine, Glycogen Storage Disease Type Ib, medicine, Genetics(clinical), Pharmacology (medical), Prospective cohort study, Genetics (clinical), Medicine(all), Glycogen storage disease type I, Glycogen, Research, Case-control study, General Medicine, medicine.disease, Endocrinology, 11ΒHSD1, chemistry, Metabolic control analysis
Abstract

Background: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS). Objective: To evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. Patients and Methods: This was a prospective study. All the enrolled patients were followed at the Department of Pediatrics "Federico II" University of Naples for 10 years. Clinical and biochemical parameters of MS and the presence of IR were recorded. The results were correlated with the biochemical parameters of GSDI-related metabolic control. 10 GSDIa patient (median age 12.10 ± 1.50), 7 GSDIb patients (median age 14.90 ± 2.20 were enrolled in the study. They were compared to 20 and 14 age and sex matched controls, respectively. 10 GSDIa patients (median age 24.60 ± 1.50) and 6 GSDIb patients (median age 25.10 ± 2.00) completed the 10-year-follow-up. At the end of the study the patients' data were compared to 10 and 6 age and sex matched controls, respectively. Results: At study entry, 20 % GSDIa patients had MS and 80 % showed 2 criteria for MS. GSDIa patients showed higher HOMA-IR than controls and GSDIb patients (p < 0.001, p < 0.05), respectively. Baseline ISI was lower in GSDIa than controls (p < 0.001). QUICKI was significantly lower in GSDIa than in controls (p < 0.001). At the end of the study 70 % of GSDIa patients had MS and 30 % showed 2 criteria for MS. HOMA-IR was higher in GSDIa than controls (p < 0.01). Baseline ISI was higher in GSDIb than controls (p < 0.005) and GSD1a (p < 0.05). QUICKI was lower in GSD1a patients than in controls (p < 0.03). VAI was higher in GSDIa patients than controls (p < 0.001) and GSDIb patients (p = 0.002). Conclusions: Our data showed high prevalence of IR and MS in GSDIa patients. We speculate a possible role of 11βHSD1 modulation by G6P availability. We suggest a routine metabolic assessment in GSDIa patients.

Published
2015

36. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Author

Alessandro Filla, Mirella Alpa, Agata Fiumara, G. Mansi, Ennio Del Giudice, Silvia Palmeri, Dario Roccatello, Giancarlo Parenti, Orazio Gabrielli, Antonio Federico, Adele D'Amico, Maja Di Rocco, Federica Deodato, Generoso Andria, Stefania Caviglia, Roberto Della Casa, Lucia Santoro, Alfonso Romano, Anna Ardissone, Cinzia Valeria Russo, Bruno Bembi, Carlo Dionisi-Vici, Diana Bruschini, Simona Fecarotta, Andrea Dardis, Graziella Uziel, Enrico Bertini, Fecarotta, Simona, Romano, Alfonso, DELLA CASA, Roberto, DEL GIUDICE, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D'Amico, Adele, Dionisi Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, and Andria, Generoso

Subjects
Niemann-Pick disease type C, NPC, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Adult, Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Drug Administration Schedule, Young Adult, Dysarthria, Swallowing, Multicenter trial, Miglustat, medicine, Humans, NB-DNJ, Genetics(clinical), Pharmacology (medical), Enzyme Inhibitors, Young adult, Child, Niemann-Pick disease type C, NPC, Substrate reduction therapy, Treatment, Therapy, Genetics (clinical), Medicine(all), Dystonia, Niemann–Pick disease, type C, business.industry, Research, Infant, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Dysphagia, Italy, Child, Preschool, Female, medicine.symptom, business, medicine.drug
Abstract

Background Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. Methods Based on the age at onset of neurological manifestations patients’ phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infantile (n = 6), early infantile (n = 2). Two patients had an exclusively visceral phenotype. We clinically evaluated patients’ neurological involvement, giving a score of severity ranging from 0 (best) to 3 (worst) for gait abnormalities, dystonia, dysmetria, dysarthria, and developmental delay/cognitive impairment, and from 0 to 4 for dysphagia. We calculated a mean composite severity score transforming the original scores proportionally to range from 0 to 1 to summarize the clinical picture of patients and monitor their clinical course. Results We compared the results after 24 months of treatment in 23 patients showing neurological manifestations. Stabilization or improvement of all parameters was observed in the majority of patients. With the exception of developmental delay/cognitive impairment, these results persisted after 48–96 months in 41 – 55% of the patients (dystonia: 55%, dysarthria: 50%, gait abnormalities: 43%, dysmetria: 41%, respectively). After 24 months of therapy the majority of the evaluable patients (n = 20), demonstrated a stabilization or improvement in the ability to swallow four substances of different consistency (water: 65%, purée: 58%, little pasta: 60%, biscuit: 55%). These results persisted after 48–96 months in 40-50% of patients, with the exception of water swallowing. Stabilization or improvement of the composite severity score was detected in the majority (57%) of 7 patients who were treated early (within 3.5 years from onset) and rarely in patients who received treatment later. Conclusions The results of this study suggest that miglustat treatment can improve or stabilize neurological manifestations, at least for a period of time; the severity of clinical conditions at the beginning of treatment can influence the rate of disease progression. This conclusion applies particularly to patients with juvenile or adult onset of the disease. Trial registration EudraCT number 2006-005842-35 Electronic supplementary material The online version of this article (doi:10.1186/s13023-015-0240-y) contains supplementary material, which is available to authorized users.

Published
2015

37. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, and Chiodini P

Subjects
COVID-19 Testing, Delivery of Health Care, Disease Outbreaks, Humans, Pandemics, Rare Diseases diagnosis, Rare Diseases epidemiology, Registries, Retrospective Studies, COVID-19 diagnosis, COVID-19 epidemiology
Abstract

Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period., Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period., Results: Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P < 0.001 and 37 versus 349, P < 0.001, respectively) and 2018 (117 versus 389, P < 0.001 and 37 versus 282, P < 0.001, respectively). Eighty-two among 98 rare disease experts completed the questionnaire. Diagnostic success (95%), access to diagnosis (80%) and follow-up (72%), lack of Personal Protective Equipment (60%), lack of Covid-19 guidelines (50%) and the need for home therapy (78%) were the most important issues raised during Covid-19 outbreak., Conclusions: This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period., (© The Author(s) 2021. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Published
2022
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