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301 results on '"Pedemonte, M"'

52. 1st Italian SMA Family Association Consensus Meeting

Author

Sansone, V.A., primary, Racca, F., additional, Ottonello, G., additional, Vianello, A., additional, Berardinelli, A., additional, Crescimanno, G., additional, Casiraghi, J.L., additional, Agosto, C., additional, Banfi, P., additional, Baranello, G., additional, Bignamini, E., additional, Chiarini, M.B., additional, Cutrera, R., additional, D'amico, A., additional, Dusio, M., additional, Fanfulla, F., additional, Garuti, G., additional, Giretti, R., additional, Gorni, K., additional, Gregoretti, C., additional, Luccoli, L., additional, Messina, S., additional, Pane, M., additional, Pavone, M., additional, Pedemonte, M., additional, Pera, M.C., additional, Piastra, M., additional, Profazio, C., additional, Rao, F., additional, Salvo, I., additional, Testa, R., additional, and Villanova, M., additional

Published
2015
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53. Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.

Author

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., and D'Amico, A.

Subjects
NEMALINE myopathy, HUMAN abnormalities, POLYMERASE chain reaction, DUCHENNE muscular dystrophy, EXONS (Genetics)
Abstract

Congenital myopathies (CMs) caused by mutation in cofilin‐2 gene (CFL2) show phenotypic heterogeneity ranging from early‐onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss‐of‐function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2−/− knockout mouse model. [ABSTRACT FROM AUTHOR]

Published
2018
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54. Tinnitus treatment with sound stimulation during sleep

Author

Pedemonte, M, Drexler, D, Rodio, S, Geisinger, D, Bianco, A, Pol-Fernandes, D, and Bernhardt, V

Subjects
Adult, Male, Pilot Projects, MP3-Player, Middle Aged, Tinnitus, Treatment Outcome, Acoustic Stimulation, Auditory Perception, Humans, Female, Sleep, Perceptual Masking, Aged
Abstract

A new strategy for idiopathic subjective tinnitus treatment - sound stimulation during sleep - has been applied. It was based on the acknowledgement that the auditory system also works during sleep, processing the incoming information. Eleven patients were stimulated every night during 6 months. The stimulus was a sound that mimetized the tinnitus and was fixed at the same tinnitus intensity, applied through an iPod. All patients decreased their tinnitus intensity in the first month of treatment (statistically significant), most of them in the first week. Tinnitus intensity continued decreasing in the following weeks; three patients presented periods of total silence.

Published
2011

56. Saldatura Friction stir tra estrusi e laminati

Author

Lertora, Enrico, Gambaro, Carla, Mandolfino, Chiara, and Pedemonte, M.

Subjects
Process parameters, Al Mg Si alloys, Aluminium alloys, Energy input, Friction Stir Welding, Friction welding, Hardness tests, Heat flow, Laminates, Mechanical properties, Mechanical tests, Metallography, Optimisation, Tensile tests, Thermography, Mechanical Engineering, Mechanics of Materials
Published
2011

60. X-linked myotubular myopathy in females

Author

Fiorillo, C., primary, Fattori, F., additional, Astrea, G., additional, Pedemonte, M., additional, Rubegni, A., additional, Trucco, F., additional, Tessa, A., additional, Savarese, M., additional, Baldacci, J., additional, Broda, P., additional, Bertini, E., additional, Minetti, C., additional, Nigro, V., additional, Bruno, C., additional, and Santorelli, F., additional

Published
2015
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63. The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

Author

Pane, M, Mazzone, E, Sivo, S, Fanelli, L, De Sanctis, R, D'Amico, A, Messina, S, Battini, R, Bianco, F, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, Gl, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Busato, F, Bonfiglio, S, Rolle, E, Colia, G, Bonetti, A, Palermo, C, Graziano, A, D'Angelo, G, Pini, A, Corlatti, A, Gorni, K, Baranello, G, Antonaci, L, Bertini, E, Politano, L, Mercuri, Eugenio Maria, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, M, Mazzone, E, Sivo, S, Fanelli, L, De Sanctis, R, D'Amico, A, Messina, S, Battini, R, Bianco, F, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, Gl, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Busato, F, Bonfiglio, S, Rolle, E, Colia, G, Bonetti, A, Palermo, C, Graziano, A, D'Angelo, G, Pini, A, Corlatti, A, Gorni, K, Baranello, G, Antonaci, L, Bertini, E, Politano, L, Mercuri, Eugenio Maria, and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published data have shown that early signs of involvement can also be found in ambulant DMD boys. The aim of this longitudinal Italian multicentric study was to evaluate the correlation between the 6 Minute Walk Test (6MWT) and the PUL in ambulant DMD boys. Both 6MWT and PUL were administered to 164 ambulant DMD boys of age between 5.0 and 16.17 years (mean 8.82). The 6 minute walk distance (6MWD) ranged between 118 and 557 (mean: 376.38, SD: 90.59). The PUL total scores ranged between 52 and 74 (mean: 70.74, SD: 4.66). The correlation between the two measures was 0.499. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appeared to be less relevant in the very strong patients with 6MWD above 400 meters, who, with few exceptions had near full scores. In patients with lower 6MWD the severity of upper limb involvement was more variable and could not always be predicted by the 6MWD value or by the use of steroids. Our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase.

Published
2014

66. T.P.11

Author

Pane, M., primary, Mazzone, E.S., additional, Fanelli, L., additional, Sanctis, R. De, additional, Palermo, C., additional, Sivo, S., additional, D’Amico, A., additional, Messina, S., additional, Politano, L., additional, Battini, E., additional, Pedemonte, M., additional, Pegoraro, E., additional, Berardinelli, A.L., additional, D’Angelo, G., additional, Pini, A., additional, Baranello, G., additional, and Mercuri, E., additional

Published
2014
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71. P.2.3 Assessment of Upper Limb function in DMD patients: Comparison with normative data

Author

Mazzone, E., primary, Pane, M., additional, Fanelli, L., additional, De Sanctis, R., additional, Bianco, F., additional, Sivo, S., additional, D’Amico, A., additional, Messina, S., additional, Politano, L., additional, Battini, R., additional, Frosini, S., additional, Pedemonte, M., additional, Boffi, P., additional, Pegoraro, E., additional, Berardinelli, A.L., additional, D’Angelo, G., additional, Pini, A., additional, Iotti, E., additional, Baranello, G., additional, Morandi, L., additional, and Mercuri, E., additional

Published
2013
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73. Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Author

Pescatori, Mario, Broccolini, Aldobrando, Minetti, C, Bertini, E, Bruno, C, D'Amico, Adele, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, V, Modoni, Anna, Pedemonte, M, Tasca, Giorgio, Galluzzi, G, Mercuri, Eugenio Maria, Tonali, Pietro Attilio, Ricci, Enzo, Broccolini, Aldobrando (ORCID:0000-0001-8295-9271), Bernardini, Camilla (ORCID:0000-0002-8869-6334), Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Ricci, Enzo (ORCID:0000-0003-3092-3597), Pescatori, Mario, Broccolini, Aldobrando, Minetti, C, Bertini, E, Bruno, C, D'Amico, Adele, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, V, Modoni, Anna, Pedemonte, M, Tasca, Giorgio, Galluzzi, G, Mercuri, Eugenio Maria, Tonali, Pietro Attilio, Ricci, Enzo, Broccolini, Aldobrando (ORCID:0000-0001-8295-9271), Bernardini, Camilla (ORCID:0000-0002-8869-6334), Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), and Ricci, Enzo (ORCID:0000-0003-3092-3597)

Abstract

Genome-wide gene expression profiling of skeletal muscle from Duchenne muscular dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD children older than 5 years. By studying the expression profile of 19 patients younger than 2 years, we describe with high resolution the gene expression signature that characterizes DMD muscle during the initial or "presymptomatic" phase of the disease. We show that in the first 2 years of the disease, DMD muscle is already set to express a distinctive gene expression pattern considerably different from the one expressed by normal, age-matched muscle. This "dystrophic" molecular signature is characterized by a coordinate induction of genes involved in the inflammatory response, extracellular matrix (ECM) remodeling and muscle regeneration, and the reduced transcription of those involved in energy metabolism. Despite the lower degree of muscle dysfunction experienced, our younger patients showed abnormal expression of most of the genes reported as differentially expressed in more advanced stages of the disease. By analyzing our patients as a time series, we provide evidence that some genes, including members of three pathways involved in morphogenetic signaling-Wnt, Notch, and BMP-are progressively induced or repressed in the natural history of DMD.

Published
2007

74. Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Author

Pescatori, M, Broccolini, Aldobrando, Minetti, C, Bertini, E, Bruno, C, D'Amico, A, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, V, Modoni, Anna, Pedemonte, M, Tasca, Giorgio, Galluzzi, G, Mercuri, Eugenio Maria, Tonali, Pa, Ricci, Enzo, Broccolini A (ORCID:0000-0001-8295-9271), Bernardini C (ORCID:0000-0002-8869-6334), Mirabella M (ORCID:0000-0002-7783-114X), Silvestri G (ORCID:0000-0002-1950-1468), Modoni A, Tasca G, Mercuri E (ORCID:0000-0002-9851-5365), Ricci E. (ORCID:0000-0003-3092-3597), Pescatori, M, Broccolini, Aldobrando, Minetti, C, Bertini, E, Bruno, C, D'Amico, A, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, V, Modoni, Anna, Pedemonte, M, Tasca, Giorgio, Galluzzi, G, Mercuri, Eugenio Maria, Tonali, Pa, Ricci, Enzo, Broccolini A (ORCID:0000-0001-8295-9271), Bernardini C (ORCID:0000-0002-8869-6334), Mirabella M (ORCID:0000-0002-7783-114X), Silvestri G (ORCID:0000-0002-1950-1468), Modoni A, Tasca G, Mercuri E (ORCID:0000-0002-9851-5365), and Ricci E. (ORCID:0000-0003-3092-3597)

Abstract

Genome-wide gene expression profiling of skeletal muscle from Duchenne muscular dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD children older than 5 years. By studying the expression profile of 19 patients younger than 2 years, we describe with high resolution the gene expression signature that characterizes DMD muscle during the initial or "presymptomatic" phase of the disease. We show that in the first 2 years of the disease, DMD muscle is already set to express a distinctive gene expression pattern considerably different from the one expressed by normal, age-matched muscle. This "dystrophic" molecular signature is characterized by a coordinate induction of genes involved in the inflammatory response, extracellular matrix (ECM) remodeling and muscle regeneration, and the reduced transcription of those involved in energy metabolism. Despite the lower degree of muscle dysfunction experienced, our younger patients showed abnormal expression of most of the genes reported as differentially expressed in more advanced stages of the disease. By analyzing our patients as a time series, we provide evidence that some genes, including members of three pathways involved in morphogenetic signaling-Wnt, Notch, and BMP-are progressively induced or repressed in the natural history of DMD.

Published
2007

76. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Author

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., and Vita, G. L.

Subjects
MUSCLE diseases, MUSCLE disease treatment, HYPERTROPHIC cardiomyopathy, MYOSIN, NEUROGENIC bowel, THERAPEUTICS, DIAGNOSIS of muscle diseases, MUSCLE protein metabolism, COMPARATIVE studies, GENEALOGY, GENETIC techniques, LEG, MAGNETIC resonance imaging, RESEARCH methodology, MEDICAL cooperation, MUSCLE proteins, GENETIC mutation, RESEARCH, RESEARCH funding, PHENOTYPES, EVALUATION research, SKELETAL muscle, GENOTYPES
Abstract

Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions.Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps.Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder. [ABSTRACT FROM AUTHOR]

Published
2016
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77. Expanding the clinical spectrum of POMT1 phenotype

Author

D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, Marika, Pedemonte, M., Ricci, Enzo, Falace, A., Rossi, A., Mercuri, Eugenio Maria, Santorelli, F. M., Bertini, Enrico Silvio, Pane M. (ORCID:0000-0002-4851-6124), Ricci E. (ORCID:0000-0003-3092-3597), Mercuri E. (ORCID:0000-0002-9851-5365), Bertini E., D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, Marika, Pedemonte, M., Ricci, Enzo, Falace, A., Rossi, A., Mercuri, Eugenio Maria, Santorelli, F. M., Bertini, Enrico Silvio, Pane M. (ORCID:0000-0002-4851-6124), Ricci E. (ORCID:0000-0003-3092-3597), Mercuri E. (ORCID:0000-0002-9851-5365), and Bertini E.

Abstract

Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes. Copyright © 2006 by AAN Enterprises, Inc.

Published
2006

89. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.

Author

Wallgren-Pettersson, C., Pelin, K., Hilpela, P., Donner, K., Porfirio, B., Graziano, C., Swoboda, K.J., Fardeau, M., Urtizberea, J.A., Muntoni, F., Sewry, C.A., Dubowitz, V., Iannaccone, S., Minetti, C., Pedemonte, M., Seri, M., Cusano, R., Lammens, M.M.Y., Castagna-Sloane, A., Beggs, A.H., Laing, N.G., Chapelle, A. dela, Wallgren-Pettersson, C., Pelin, K., Hilpela, P., Donner, K., Porfirio, B., Graziano, C., Swoboda, K.J., Fardeau, M., Urtizberea, J.A., Muntoni, F., Sewry, C.A., Dubowitz, V., Iannaccone, S., Minetti, C., Pedemonte, M., Seri, M., Cusano, R., Lammens, M.M.Y., Castagna-Sloane, A., Beggs, A.H., Laing, N.G., and Chapelle, A. dela

Abstract

Item does not contain fulltext

Published
1999

99. Environmental effects on methacrylate adhesive.

Author

Lertora, E., Gambaro, C., Mandolfino, C., and Pedemonte, M.

Subjects
METHACRYLATES, ADHESIVES, JOINTS (Engineering), SEA water analysis, CORROSION & anti-corrosives, NONFERROUS metals
Abstract

In recent years, bonding techniques have been widely used to assist or even replace traditional joining techniques, such as welding and riveting. This study investigates how environmental conditions affect the mechanical behaviour of bonded joints. Analyses were carried out on single lap shear joints bonded by a two-component methacrylate-based flexible structural adhesive, extensively used in marine applications. The degradation of bonded joints in marine environment is mainly due to humidity and seawater-induced corrosion. Thus, the bonded samples were prepared for test by ageing in a climatic chamber with no applied stress (at controlled temperature and humidity) and immersion-drying cycles in a saline solution (seawater-like effect). Afterwards, tensile stress tests were performed. In order to evaluate the environment-induced degradation of the tested joints, the tensile strength of aged samples was compared with that of similar un-aged joints. [ABSTRACT FROM AUTHOR]

Published
2014
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