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Your search keyword '"Pegoraro, E"' showing total 104 results
Start Over Author "Pegoraro, E" Publisher elsevier b.v.
104 results on '"Pegoraro, E"'

1. Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Author

Pane, M., Mazzone, E., Messina, S., Vita, G.L., Sormani, M.P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G.P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C., Politano, L., Previtali, S., Binks, M.H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C., Reha, A., Mercuri, Eugenio, Signorovitch, James Edward, Swallow, Elyse, Song, Jinlin, and Ward, Susan J.

Published
2016
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3. Reliability of the North Star Ambulatory Assessment in a multicentric setting

Author

Mazzone, E.S., Messina, S., Vasco, G., Main, M., Eagle, M., D’Amico, A., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Magri, F., Corlatti, A., Zucchini, E., Brancalion, B., Rossi, F., Ferretti, M., Motta, M.G., Cecio, M.R., Berardinelli, A., Alfieri, P., Mongini, T., Pini, A., Astrea, G., Battini, R., Comi, G., Pegoraro, E., Morandi, L., Pane, M., Angelini, C., Bruno, C., Villanova, M., Vita, G., Donati, M.A., Bertini, E., and Mercuri, E.

Published
2009
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5. P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study

Author

Schiava, M., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Polvikoski, T., Charlton, R., Parkhurst, Y., Henderson, M., Marini-Bettolo, C., Guglieri, M., Straub, V., Weihl, C., Stojkovic, T., Villar-Quiles, R., Romero, N., Evangelista, T., Pegoraro, E., De Bleecker, J., Monforte, M., Malfatti, E., Souvannanorath, S., Severa, G., Alonso-Jiménez, A., Baets, J., De Ridder, W., De Jonghe, P., Kierdaszuk, B., Claeys, K., Muelas, N., Oldfors, A., Rodolico, C., Quin, C., Dominguez, C., Lain, A Herández, Pál, E., Papadimas, G., Kushlaf, H., Alfano, L., Alonso-Pérez, J., Luo, S., Badrising, U., Bevilacqua, J., Nedkova-Hristova, V., Cetin, H., Gelpi, E., Klotz, S., and Plana, M Olivé

Published
2023
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8. P120 Refining MRI pattern in sarcoglycanopathies: upper body pattern and new approaches to assess disease progression

Author

Comellas, L Costa, Sánchez-Montáñez, Á, Maggi, L., Díaz-Manera, J., D'Amico, A., Pichiecchio, A., Pegoraro, E., Monforte, M., Løkken, N., Marini-Bettolo, C., Vlodavets, D., Walter, M., Voermans, N., Monges, S., Claeys, K., Bevilacqua, J., Alonso, J., Comi, G., Bruno, C., Leonardis, L., Straub, V., Quijano-Roy, S., Carlier, R Yves, Vissing, J., Mercuri, E., Bertini, E., Gomez-Andres, D., Munell, F., and Tasca, G.

Published
2023
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10. FP.34 Clinical outcome study of dysferlinopathy: correlation between MRI fat fraction in lower limbs and clinical outcome assessments over a 3-year period

Author

Smith, F., Reyngoudt, H., Manera, J. Diaz, James, M., Wilson, I., de Almeida Araujo, E. Caldas, Diaz, C. Bolano, Dressman, H. Gordish, Rufibach, L., Mayhew, A., Jones, K., Campana, E. Salort, Walter, M., Stojkovic, T., Yoshimura, M., Pegoraro, E., Mendell, J., Straub, V., Blamire, A., and Carlier, P.

Published
2022
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20. P.371 - Prevalence study of muscle channelopathies in Italy

Author

Maggi, L., Lo Monaco, M., Portaro, S., Meola, G., Desaphy, J., Lucchiari, S., Pagliarani, S., Bernasconi, P., Imbrici, P., Comi, G., Mantegazza, R., Trojano, M., D'Amico, A., Pegoraro, E., Politano, L., Mongini, T., Siciliano, G., Conte Camerino, D., Toscano, A., and Sansone, V.

Published
2016
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29. G.P.251: The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures

Author

Magri, F., Govoni, A., Brusa, R., Angelini, C., D’Angelo, M.G., Mongini, T., Toscano, A., Siciliano, G., Tomelleri, G., Mora, M., Nigro, V., Pegoraro, E., Morandi, L., Musumeci, O., Sciacco, M., Ricci, G., Moroni, I., Gandossini, S., Bo, R. Del, Fortunato, F., Ronchi, D., Corti, S., Moggio, M., Bresolin, N., and Comi, G.P.

Published
2014
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33. G.O.7: Multiple genetic variations in limb-girdle muscular dystrophies

Author

Savarese, M., Di Fruscio, G., Torella, A., Mutarelli, M., Comi, G.P., Mongini, T., Ricci, E., Angelini, C., Fanin, M., Pegoraro, E., Musumeci, O., Toscano, A., Siciliano, G., Mora, M., Morandi, L., Bertini, E.M., D’Amico, A., Tasca, G., Bruno, C., Fiorillo, C., Minetti, C., Santorelli, F.M., Garofalo, A., Giugliano, T., Pisano, C., Del Vecchio Blanco, F., Piluso, G., De Concilio, O., Sacconi, S., Politano, L., and Nigro, V.

Published
2014
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36. P.2.7 6 min walk test 12 month changes in DMD: Correlation with genotype

Author

Pane, M., Mazzone, E., Sormani, M.P., Scalise, R., Berardinelli, A., Messina, S., Torrente, Y., D’Amico, A., Doglio, L., Viggiano, E., D’Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., De Sanctis, R., Fanelli, L., Rolle, E., Bianco, F., Magri, F., Vita, G.L., Motta, M.C., Donati, M.A., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S.C., Napolitano, S., Bruno, C., Politano, L., Comi, G.P., Bertini, E., and Mercuri, E.

Published
2013
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42. Impact of land degradation on soil respiration in a steppe (Stipa tenacissima L.) semi-arid ecosystem in the SE of Spain

Author

Rey, A., Pegoraro, E., Oyonarte, C., Were, A., Escribano, P., and Raimundo, J.

Subjects
*SOIL respiration, *LAND degradation, *CLIMATE change, *STEPPE ecology, *GRASSLANDS, *SOIL moisture, *SOIL temperature, *DESERTIFICATION, *ARID regions ecology, *BIOTIC communities
Abstract

Abstract: Climate change scenarios predict increases in temperature, changes in precipitation patterns, and longer drought periods in most semi-arid regions of the world. Ecosystems in these regions are prone to land degradation, which may be aggravated by climate change. Soil respiration is one of the main processes responsible for organic carbon losses from arid and semi-arid ecosystems. We measured soil respiration over one year in two steppe ecosystems having different degrees of land degradation under three ground-covers: with vegetation, bare soil, and an intermediate situation between plants and bare soil. The largest differences in soil respiration rates between the sites were observed in spring, coinciding with the highest level of plant activity. The degraded site had drier and hotter soils with less soil water availability and a longer drought period. As a result, vegetation on the degraded site did not respond to spring rainfall events. Soil respiration showed a strong seasonal variability, with average annual rates of 1.1 and 0.8 μmol CO2 m−2 s−1 in the natural and degraded sites, respectively. We did not observe significant differences in soil respiration rates associated with ground-cover i.e., the temporal variation was much larger than the spatial variation. At both sites, soil moisture was the controlling driver of soil respiration for most of the year, when temperatures were above 20 °C and constrained the response to temperature for the few months when the temperature was below 20 °C. An empirical model based on soil temperature and soil moisture explained 90% and 72% of the seasonal variability of soil respiration on the natural and degraded sites, respectively. For the first time, this study suggests that land degradation may alter the carbon balance of these ecosystems through changes in the temporal dynamics of soil respiration and plant productivity, which have important negative consequences for ecosystem functioning and sustainability. [Copyright &y& Elsevier]

Published
2011
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43. S.P.4 Functional changes in Duchenne muscular dystrophy: A 24 month longitudinal cohort study

Author

Mazzone, E.S., Pane, M., Scalise, R., Sormani, M.P., Torrente, Y., Berardinelli, A., Messina, S., Cavallaro, F., ′Amico, A. D, Doglio, L., Bruno, C., Politano, L., Frosini, S., Battini, R., Bello, L., Pegoraro, E., Bonfiglio, S., Comi, G., Pini, A., de Sanctis, R., Bianco, F., Vasco, G., Mongini, T., Donati, M.A., Previtali, S., Napolitano, S., Vita, G., Bertini, E., and Mercuri, E.

Published
2012
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44. Effect of drought on isoprene emission rates from leaves of Quercus virginiana Mill.

Author

Pegoraro, E., Rey, A., Greenberg, J., Harley, P., Grace, J., Malhi, Y., and Guenther, A.

Subjects
*EVAPORATION (Meteorology), *PHOTOBIOLOGY, *BIOLOGY, *LIGHT
Abstract

Leaf isoprene emission rates (Fiso) were studied in 2-year old trees of live oak (Quercus virginiana Mill.) during two drying–rewatering cycles. During the first drying–rewatering cycle, photosynthesis (A) and stomatal conductance (gs) decreased by 92%(±7%) and 91%(±8%), respectively, while Fiso remained essentially constant for 8 days of treatment. After 12 days under severe drought conditions, Fiso was reduced by 64%(±6%). Similar values were found during the second drying–rewatering cycle. During the recovery phase of both cycles, Fiso recovered more quickly than A and gs. The lower drought sensitivity of Fiso compared with that of A resulted in a higher percentage of fixed C lost as isoprene (Ciso/CA) as plants became more stressed, reaching peaks of 50% when A was almost zero. Fiso showed a strong negative linear relationship with pre-dawn leaf water potential (ψPD) that could be a useful parameter to include in isoprene emission models to account for effects of drought stress on leaf Fiso. [Copyright &y& Elsevier]

Published
2004
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48. 358P Long-term changes of motor function in Becker muscular dystrophy.

Author

Bello, L., Riguzzi, P., Capece, G., Penzo, M., Petrosino, A., Sogus, E., Mastellaro, S., Caroli, M., Villa, M., Sabbatini, D., Gorgoglione, D., Vianello, S., Sorarù, G., and Pegoraro, E.

Subjects
*BECKER muscular dystrophy, *NONSENSE mutation, *DYSTROPHIN, *DISEASE progression, *CLINICAL trials
Abstract

Becker muscular dystrophy (BMD) is due to DMD mutations allowing partial expression of dystrophin. A detailed description of disease trajectories in different mutational subgroups, and the identification of factors predicting progressive vs. stable disease, are indispensable for the design and interpretation current and future clinical trials. We recruited male patients with a molecularly confirmed diagnosis of BMD at our Institution and followed them up with longitudinal functional evaluations including North Star Ambulatory Assessment (NSAA), 6-minute walk test (6MWT), and timed function measures (TFTs). Linear mixed models were applied to describing functional trajectories in the overall cohort and in mutational subgroups. We recruited 107 patients, with an average age of 31.4 ± 17.3 years at baseline. Eight-six patients (84%) had single- or multi-exon deletions, the most common being del 45-47 (15.9%) and del 45-48 (15.9%), followed by del x-51 (14.0%), del 48 (11.2%), del 45-55 (4.7%), and del 48-49 (3.7%). Dystrophin quantification via immunoblot was available for 62 patients (57.9%) and showed a "trimodal" pattern: 20 patients (32%) 90-100% relative to controls, in 10 (16%) 50%, and in 7 patients (11.3%) below 10% compared to controls. Mutational groups with higher dystrophin levels include del x-51, del 48, del 45-55, proximal rod deletions, del 3-9, and some del 45-48 patients. Conversely, groups with lower dystrophin levels encompass del 45-47, most del 45-48, and nonsense mutations. Mean dystrophin quantity was 60% ± 34%, with a minimum of 3% and a maximum of 100%. Time-to-event analyses of age at loss of ambulation estimated that only 25% of BMD patients lose ambulation by 60 years of age. Ninety-four patients were tested for 6MWT, 93 for time to run/walk 10m, 86 for time to climb 4 standard steps, 78 for time to rise from the floor, and 100 for NSAA at baseline. The mean follow-up duration was 6.1 years (± 3.6), ranging from 0 to a maximum of 11.5 years, with an average of 6.4 ± 3.5 clinical evaluations per patient, up to a maximum of 13. In the overall cohort, a statistically significant yearly decrease of -0.64 NSAA points was estimated. del 45-47 and del 45-48, showed a steady decrease, estimated respectively at -0.99 and -0.78 points per year. In del 48, a statistically significant but not clinically relevant decrease of -0.03 was observed, most patients starting from 34/34 at baseline. In the del x-51 group, there was no significant decrease of NSAA. Baseline NSAA value appeared to be a strong predictor of disease progression, with patient scoring between 10 and 32 at baseline showing the fastest decrease of functional measures. 6MWT and TFTs showed similar trends to NSAA in the longitudinal follow-up. These data confirm and refine genotype-phenotype correlations in BMD; quantify the decline in several practical and reliable motor outcome measures, which can be directly applied to power calculations for upcoming trials; and point to inclusion/exclusion criteria for trials aiming to demonstrate efficacy in motor outcomes in BMD, e.g. inclusion of patients with NSAA ≥ 32. [ABSTRACT FROM AUTHOR]

Published
2024
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49. 320P Clinical characterization of a large single-centre cohort of patients with Becker muscular dystrophy.

Author

Riguzzi, P., Borland, H., Bourke, J., Marini Bettolo, C., James, M., Muni Lofra, R., Diaz-Manera, J., Tasca, G., Elseed, M., Grover, E., Geagan, C., Schiava, M., Bolano Diaz, C., Michell-Sodhi, J., Moat, D., Wong, K., Pegoraro, E., Bello, L., Straub, V., and Guglieri, M.

Subjects
*BECKER muscular dystrophy, *MUSCULAR dystrophy, *PHENOTYPIC plasticity, *VITAL capacity (Respiration), *GENETIC testing
Abstract

This retrospective, cross-sectional study aimed to characterise Becker muscular dystrophy (BMD) using information from a large patient cohort at the John Walton Muscular Dystrophy Research Centre, Newcastle, UK. The analysis included data from 163 male patients with genetically confirmed BMD, defined by in-frame DMD gene variations. A subset of patients with mutations predicted to induce reading frameshift was also included if they expressed dystrophin in muscle biopsy samples. Large deletions in the DMD-gene were commonest (78% of cases), followed by large duplications and small mutations, each accounting for 11% of cases. Genetic testing was prompted by a positive family history in 28% of cases, skeletal muscle symptoms in 51%, neurocognitive issues in 10%, incidental detection of high serum CK levels (7%), or cardiomyopathy (4%). The mean age at last neuromuscular assessment was 33.2 years (range 1.4-86.3). Twenty-three percent of patients were non-ambulant, with mean age at loss of ambulation (LoA) of 42.2 years (range 11.2-77.6 years). LoA was significantly related to age of symptom onset but not with specific mutation types. Cardiac involvement was observed in 52.3% of patients. Severe respiratory impairment (Forced Vital Capacity <60%) was rare (13.6%) and was more prevalent in non-ambulatory patients. The longitudinal trajectory of respiratory function will be presented. Behavioural and learning difficulties were frequently reported (44.1%); 18.4% of patients had a formal neuropsychiatric diagnosis. 'Real world' data from retrospective analyses of clinical case records, such as presented here, contribute to improved understanding of the variability of phenotypes of BMD. Combining the findings of this with those from other large centres is an important step in the process of developing standards of care guidance for BMD. Detailed natural history data is also a prerequisite for the design of clinical trials of novel therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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50. 60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies.

Author

Iannibelli, E., Gibertini, S., Maruotti, A., Salerno, F., Cheli, M., Vattemi, G., Tonin, P., Tasca, G., Bortolani, S., Pegoraro, E., Previtali, S., Garibaldi, M., Merlonghi, G., Filosto, M., Carnazzi, A., De Gaetano, L. Nicolini, Riolo, G., Ruggieri, A., and Maggi, L.

Subjects
*RANDOM effects model, *GAMMA distributions, *AGE of onset, *BIOMARKERS, *IMMUNOFLUORESCENCE
Abstract

Myofibrillar myopathies (MFMs) are an expanding group of genetically determined muscular disorders. Their main features are myofibrillar degeneration, Z-disk disorganization and often the presence of rimmed vacuoles. Moreover, protein aggregates' accumulation is the hallmark of these pathologies. It is well-established that protein aggregates, that do not fit the proteasome's narrow pore, are targeted for removal via a specialized form of autophagy, called aggrephagy. The presence of protein aggregates within myofibers in MFM patients might indicate the inadequacy of the aggrephagic process in these disorders. Our study aims to investigate the potential pathogenic role of aggrephagy in an Italian multicentric cohort of 52 MFM patients. We measured, by immunofluorescence staining, the percentage of positive areas of key aggrephagy proteins, notably, p62, NBR1, and FK2 in 11 DES -, 6 DNAJB6 -, 5 FLNC -, 18 MYOT - and 12 TTN -mutated patients. We analysed the association between positivity level of these markers and molecular and clinical features (i.e. Walton & Gardner-Medwin (WGM) at the time of biopsy) utilizing generalized linear mixed models with gamma distribution as the probability model and centre-specific random effects to better capture possible heterogeneity across centres. Our findings indicate that the aggrephagy pathway is significantly activated in all MFM patients with high WGM score at biopsy (all p-values<0.001), therefore showing a more severe clinical phenotype. Furthermore, associations were observed when considering age at biopsy and age of onset. Noteworthy, the aggrephagic pathway is mostly activated in MYOT -mutated patients compared to the other subgroups. As well the association between aggrephagy and WGM score at biopsy is stronger in this subgroup. Overall, our study underscores the direct involvement of the aggrephagy in MFMs, particularly in MYOT -mutated patients. [ABSTRACT FROM AUTHOR]

Published
2024
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