Search

Your search keyword '"Mauro, Elena"' showing total 19 results
Start Over Author "Mauro, Elena"
19 results on '"Mauro, Elena"'

1. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed, Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, and Mochel, Fanny

Published
2023
Full Text
View/download PDF

6. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Köhler, Wolfgang, primary, Engelen, Marc, additional, Eichler, Florian, additional, Lachmann, Robin, additional, Fatemi, Ali, additional, Sampson, Jacinda, additional, Salsano, Ettore, additional, Gamez, Josep, additional, Molnar, Maria Judit, additional, Pascual, Sílvia, additional, Rovira, Maria, additional, Vilà, Anna, additional, Pina, Guillem, additional, Martín-Ugarte, Itziar, additional, Mantilla, Adriana, additional, Pizcueta, Pilar, additional, Rodríguez-Pascau, Laura, additional, Traver, Estefania, additional, Vilalta, Anna, additional, Pascual, María, additional, Martinell, Marc, additional, Meya, Uwe, additional, Mochel, Fanny, additional, Mc Govern, Eavan, additional, Yazbeck, Elise, additional, Barbier, Magali, additional, Luton, Marie-Pierre, additional, Pousset, Françoise, additional, Hogrel, Jean-Yves, additional, Adanyeguh, Isaac, additional, Then Bergh, Florian, additional, Bergner, Caroline, additional, Unterlauft, Astrid, additional, Roicke, Hannes, additional, Hoffmann, Karl-Titus, additional, Scherlach, Cordula, additional, Kalb, Andrea, additional, Meilick, Bianca, additional, Reuschel, Mandy, additional, Fenu, Silvia, additional, Mauro, Elena, additional, Murphy, Elaine, additional, Krishna, Gauri, additional, Beyene, Tiggy, additional, Sierra, Alba, additional, Quiñoa, Sara, additional, Belen Canovas, Anna, additional, Grosz, Zoltan, additional, Györgyi, Báthori, additional, van de Stadt, S.I., additional, Huffnagel, I.C., additional, van Ballegoij, W.J.C., additional, Voermans, M.M.C., additional, Seyedsadjadi, Reza, additional, Corre, Camille, additional, Godbole, Neha, additional, Grant, Natalie Rose, additional, Brito Pires, Claudia Maria, additional, Trovato, Melissa, additional, Yeh, Nancy, additional, Goodman, Jordan, additional, Keller, Jennifer, additional, Joseph, Chris, additional, Van Haren, Keith, additional, Sakamuri, Sarada, additional, Duong, Tina, additional, Perrone, Lila, additional, Tran, Stephanie, additional, Dunaway Young, Sally, additional, and Hashmi, Syed, additional

Published
2023
Full Text
View/download PDF

8. Longitudinal quantitative MRI in adrenomyeloneuropathy

Author

Politi, Letterio S, Castellano, Antonella, Papinutto, Nico, Mauro, Elena, Pareyson, Davide, Henry, Roland G, Falini, Andrea, Salsano, Ettore, Politi, Letterio S, Castellano, Antonella, Papinutto, Nico, Mauro, Elena, Pareyson, Davide, Henry, Roland G, Falini, Andrea, and Salsano, Ettore

Subjects
Volumetric MRI, Leukodystrophie, Spinal disease, DWI, Inherited metabolic disorder
Abstract

Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological changes is the spinal cord. It is difficult to quantify AMN progression, because commonly used clinical scales have limitations, and reliable biomarkers are lacking. Our goal was to investigate whether spinal cord and brain quantitative MRI may assess structural changes in AMN over a relatively short-time period.

Published
2019

9. Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Author

Di Bella, Daniela, primary, Magri, Stefania, additional, Benzoni, Chiara, additional, Farina, Laura, additional, Maccagnano, Carmelo, additional, Sarto, Elisa, additional, Moscatelli, Marco, additional, Baratta, Silvia, additional, Ciano, Claudia, additional, Piacentini, Sylvie H. M. J., additional, Draghi, Lara, additional, Mauro, Elena, additional, Pareyson, Davide, additional, Gellera, Cinzia, additional, Taroni, Franco, additional, and Salsano, Ettore, additional

Published
2020
Full Text
View/download PDF

10. Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study

Author

Bianchi-Marzoli, Stefania, primary, Fenu, Silvia, additional, Melzi, Lisa, additional, Benzoni, Chiara, additional, Antonazzo, Filippo, additional, Tomas Roldan, Eugenia, additional, Farina, Laura, additional, Tremolada, Gemma, additional, Mauro, Elena, additional, Pensato, Viviana, additional, Gellera, Cinzia, additional, Pareyson, Davide, additional, and Salsano, Ettore, additional

Published
2020
Full Text
View/download PDF

14. Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Author

Di Bella, Daniela, Magri, Stefania, Benzoni, Chiara, Farina, Laura, Maccagnano, Carmelo, Sarto, Elisa, Moscatelli, Marco, Baratta, Silvia, Ciano, Claudia, Piacentini, Sylvie H. M. J., Draghi, Lara, Mauro, Elena, Pareyson, Davide, Gellera, Cinzia, Taroni, Franco, and Salsano, Ettore

Subjects
CHROMOSOME duplication, LEUKODYSTROPHY, X chromosome, GENES, GENETIC testing, MAGNETIC resonance imaging
Abstract

Background and purpose: Little is known about hypomyelinating leukodystrophies (HLDs) in adults. The aim of this study was to investigate HLD occurrence, clinical features, and etiology among undefined leukoencephalopathies in adulthood. Methods: We recruited the patients with cerebral hypomyelinating magnetic resonance imaging pattern (mild T2 hyperintensity with normal or near‐normal T1 signal) from our cohort of 62 adult index cases with undefined leukoencephalopathies, reviewed their clinical features, and used a leukoencephalopathy‐targeted next generation sequencing panel. Results: We identified 25/62 patients (~40%) with hypomyelination. Cardinal manifestations were spastic gait and varying degree of cognitive impairment. Etiology was determined in 44% (definite, 10/25; likely, 1/25). Specifically, we found pathogenic variants in the POLR3A (n = 2), POLR1C (n = 1), RARS1 (n = 1), and TUBB4A (n = 1) genes, which are typically associated with severe early‐onset HLDs, and in the GJA1 gene (n = 1), which is associated with oculodentodigital dysplasia. Duplication of a large chromosome X region encompassing PLP1 and a pathogenic GJC2 variant were found in two patients, both females, with early‐onset HLDs persisting into adulthood. Finally, we found likely pathogenic variants in PEX3 (n = 1) and PEX13 (n = 1) and potentially relevant variants of unknown significance in TBCD (n = 1), which are genes associated with severe, early‐onset diseases with central hypomyelination/dysmyelination. Conclusions: A hypomyelinating pattern characterizes a relevant number of undefined leukoencephalopathies in adulthood. A comprehensive genetic screening allows definite diagnosis in about half of patients, and demonstrates the involvement of many disease‐causing genes, including genes associated with severe early‐onset HLDs, and genes causing peroxisome biogenesis disorders. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

16. Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease.

Author

De Amicis, Ramona, Leone, Alessandro, Ravasenghi, Stefano, Scigliuolo, Graziana, Mauro, Elena, Salsano, Ettore, Battezzati, Alberto, and Bertoli, Simona

Abstract

Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders. The aim of this study was to determine any unknown long-term effect of C7TG supplementation on the nutritional status, body composition, resting energy expenditure and biochemical parameters of two siblings with APBD.Methods: Two adult siblings with APBD were treated over a 2-year period with a high fat, low carbohydrate diet, with C7TG oil representing about 30% of the daily caloric intake. We carried out a long-term longitudinal study to determine weight, height, waist circumference; total, intra and extra cellular water by bioimpedance; body fat, lean mass, and bone mineral density by DEXA; resting energy expenditure by indirect calorimeter; glucose and lipid profiles.Results: C7TG supplementation failed to prevent APBD progression, corroborating recent literature. However, long-term C7TG supplementation did not produce any appreciable changes in nutritional status, body composition, resting energy expenditure or biochemical parameters, and no evidence was found of potential adverse effects.Conclusions: Our data suggest that maintenance of C7TG over a 2-year period still leaves a good safety profile in terms of nutritional status, body composition, resting energy expenditure, and biochemical parameters. However further studies involving larger sample sizes, also other diseases, are needed for a deeper understanding of its long-term effects. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

19. Effects of acoustic stimulation on biochemical parameters in the digestive gland of Mediterranean mussel Mytilus galloprovincialis (Lamarck, 1819)

Author

Mirella Vazzana, Manuela Mauro, Elena Papale, Maria Dioguardi, Maria Ceraulo, Vincenzo Arizza, Marco Chiaramonte, Salvatore Mazzola, Giuseppa Buscaino, and Mirella Vazzana, Maria Ceraulo, Manuela Mauro, Elena Papale, Maria Dioguardi, Salvatore Mazzola,Vincenzo Arizza, Marco Chiaramonte, Giuseppa Buscaino

Subjects
Mediterranean mussel, Acoustics and Ultrasonics, Zoology, Stimulation, Biology, 01 natural sciences, Esterase, 03 medical and health sciences, Arts and Humanities (miscellaneous), Noise pollution, otorhinolaryngologic diseases, Animals, Invertebrate, Immune response, 030304 developmental biology, Mytilus, 0303 health sciences, 010405 organic chemistry, Bivalve, food and beverages, biology.organism_classification, Enzyme assay, 0104 chemical sciences, Acoustic Stimulation, biology.protein, Alkaline phosphatase, Mussel, Water Pollutants, Chemical
Abstract

Underwater sounds generated by anthropogenic activity can cause behavior changes, temporary loss of hearing, damage to parts of the body, or death in a number of marine organisms and can also affect healing and survival. In this study, the authors examined the effects of high-frequency acoustic stimulations on a number of biochemical parameters in the Mediterranean mussel, Mytilus galloprovincialis. During the experiment, animals were placed in a test tank and exposed to acoustic signals [a linear sweep ranging from 100 to 200 kHz and lasting 1 s, with a sound pressure level range of between 145 and 160 dBrms (re 1μParms)] for 3 h. Total haemocyte count was assessed and glucose levels, cytotoxic activity and enzyme activity (alkaline phosphatase, esterase and peroxidase) in the digestive gland were measured. For the first time, this study suggests that high-frequency noise pollution has a negative impact on biochemical parameters in the digestive gland.

Published
2020

Catalog

Books, media, physical & digital resources
See catalog results