PROCEEDINGS OF THE XVII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY Siracusa, Italy May 31 - June 3, 2017
نویسندگان
- G. Astrea
- A. D'Amico
- R. Battini
- A. Berardinelli
- E. Bertini
- C. Bruno
- D. Cassandrini
- M. Catteruccia
- G.P. Comi
- F. Fattori
- C. Fiorillo
- M. Giannotta
- K. Gorni
- F. Magri
- E. Mercuri
- S. Messina
- T. Mongini
- M. Mora
- F. Morani
- F. Moro
- M. Pane
- E. Pegoraro
- A. Pini
- L. Politano
- F. Ricci
- M. Sframeli
- F.M. Santorelli
- L. Bello
- F. Magri
- A. Lazzarotto
- C. Semplicini
- M. Fanin
- S. Gandossini
- E. Diella
- M.G. D'Angelo
- G.P. Comi
- E. Pegoraro
- S. Bertoli
- G. Baranello
- A. Foppiani
- E. Giaquinto
- R. De Amicis
- A. Leone
- A. Battezzati
- G. Brisca
- M. Pedemonte
- F. Trucco
- M. Ferretti
- M.C. Diana
- G.M. Magnano
- M. Valle
- P. Broda
- C. Minetti
- C. Fiorillo
- C. Bruno
- T. Brizzi
- E. Barca
- F. Biasini
- A. Lupica
- G. Vita
- R.L. Mazzei
- O. Musumeci
- C. Rodolico
- A. Toscano
- D. Cassandrini
- R. Trovato
- A. Rubegni
- S. Lenzi
- J. Baldacci
- C. Fiorillo
- M. Savarese
- V. Nigro
- C. Bruno
- G. Astrea
- F.M. Santorelli
- A. Berardinelli
- E. Bertini
- G. Comi
- A. D'Amico
- M.A. Donati
- M.T. Dotti
- F. Fattori
- M. Grandis
- L. Maggi
- F. Magri
- M.A. Maioli
- A. Malandrini
- F. Mari
- R. Massa
- E. Mercuri
- L. Merlini
- M. Moggio
- M. Mora
- O. Musumeci
- M. Pane
- E. Pegoraro
- E.M. Pennisi
- L. Peverelli
- G. Ricci
- C. Rodolico
- L. Ruggiero
- M. Sacchini
- L. Santoro
- G. Siciliano
- A. Simonati
- P. Tonin
- A. Toscano
- G.P. Comi
- E. Bertini
- F. Magri
- X. Luo
- J. McIntosh
- T. Ong
- P. Riebling
- P. Triffilis
- M. Souza
- S.W. Peltz
- E. Mercuri
- C. Danesino
- S. Ravaglia
- C. Scotti
- P. De Filippi
- E. Falcier
- E. De Mattia
- G. Sannicolò
- A. Lizio
- M. Iatomasi
- S. Lupone
- E. Mollar
- V. Castino
- E. Roma
- C. Conti
- F. Rao
- V.A. Sansone
- M.S. Falzarano
- S. Gherardi
- M. Bovolenta
- C. Passarelli
- D. Erriquez
- C. Scotton
- A. Armaroli
- R. Rossi
- H. Osman
- M. Mora
- P. Bernasconi
- L. Maggi
- L. Morandi
- G. Perini
- A. Ferlini
- A. Farinato
- C. Altamura
- P. Imbrici
- L. Maggi
- R. Mantegazza
- M. Filosto
- G. Siciliano
- V.A. Sansone
- M. Lo Monaco
- D. Conte Camerino
- J.-F. Desaphy
- M. Filosto
- S. Cotti Piccinelli
- M. Marchesi
- A. Di Muzio
- M.A. Donati
- A. Galvagni
- A. Lerario
- G. Marrosu
- M. Moggio
- T. Mongini
- O. Musumeci
- E. Pegoraro
- R. Piras
- S. Ravaglia
- M. Sacchini
- C. Sancricca
- C. Semplicini
- S. Servidei
- G. Siciliano
- R. Telese
- P. Tonin
- F. Caria
- S. Rota
- A. Padovani
- A. Toscano
- C. Fiorillo
- F. Madia
- A. Robbiano
- G. Pozzolini
- F. Trucco
- M. Pedemonte
- M.C. Diana
- M. Grandis
- C. Gemelli
- S. Fabbri
- A. Schenone
- F.M. Nobili
- T. Foiadelli
- C. Trabatti
- S. Savasta
- M.C. Schiaffino
- P. Picco
- G. Morcaldi
- M.E. Celle
- M. Mancuso
- P. Tonin
- P. Mandich
- C. Bruno
- F. Zara
- S. Gibertini
- S. Saredi
- M.B. Pasanisi
- A. Ardissone
- I. Moroni
- G. Baranello
- L. Peverelli
- P. Tonin
- S.C. Previtali
- M. Grandis
- C. Gemelli
- E. Canioni
- P. Bernasconi
- R. Mantegazza
- L. Morandi
- L. Maggi
- M. Mora
- A. Ruggieri
- T. Giugliano
- A. Garofalo
- M. Savarese
- A. Torella
- O. Musumeci
- L. Maggi
- L. Ruggiero
- L. Vercelli
- A. D'Amico
- C. Fiorillo
- F. Magri
- G. Piluso
- J. De Bleecker
- A. Toscano
- M. Mora
- L. Santoro
- T. Mongini
- E. Bertini
- C. Bruno
- G.P. Comi
- F.M. Santorelli
- C. Angelini
- L. Politano
- V. Nigro
- A. Govoni
- F. Magri
- S. Salani
- R. Del Bo
- M. Taiana
- G. Forotti
- N. Bresolin
- G.P. Comi
- M. Nizzardo
- S. Corti
- M. Guglieri
- P. Clemens
- A. Cnaan
- J. Damsker
- H. Gordish-Dressman
- L. Morgenroth
- R. Davis
- A. Smith
- K. Storch
- R. Head
- J. Demotes-Mainard
- K. Nagaraju
- Y. Hathout
- D. Athanasiou
- E. Vroom
- K. Bushby
- E. Hoffman
- L.P. Lowes
- L. Alfano
- R.A. Dracker
- P. Duda
- J.R. Mendell
- M. Lucchini
- C. De Fino
- G. Tasca
- G. Primiano
- E. Ricci
- G. Silvestri
- S. Servidei
- M. Mirabella
- A. Martinuzzi
- M. Vavla
- O. Musumeci
- G. Siciliano
- A. Toscano
- C. Bruno
- R. Mati Seves
- R. Massa
- G. Greco
- M. Testi
- G. Antonini
- G.A. Marfia
- E. Rastelli
- C. Terracciano
- E. Pompeo
- M. Andreani
- F. Montagnese
- S. Mondello
- S. Wenninger
- B. Schoser
- O. Musumeci
- T. Mongini
- C. Angelini
- C. Bruno
- M. Moggio
- G. Siciliano
- P. Tonin
- L. Maggi
- A. Martinuzzi
- M. Filosto
- S. Servidei
- A. Donati
- B. Bembi
- G. Marrosu
- G. Di Iorio
- S. Ravaglia
- E. Pegoraro
- E. Bertini
- A. Di Muzio
- A. Fiumara
- R. Massa
- A. Toscano
- M. Neri
- R. Selvatici
- M.S. Falzarano
- C. Trabanelli
- A. Ravani
- P. Rimessi
- M. Fabris
- C. Scotton
- A. Mauro
- F. Fortunato
- H. Osman
- R. Rossi
- A. Armaroli
- B. Buldrini
- L. Merlini
- M. Mora
- K. Gorni
- V. Sansone
- T. Mongini
- E. Pegoraro
- P. Tonin
- C. Fiorillo
- A. Pini
- M. Filosto
- A. D'Amico
- E. Bertini
- S. Messina
- G. Vita
- M. Pane
- E. Mercuri
- F. Muntoni
- S. Fini
- F. Gualandi
- A. Ferlini
- D. Piga
- P. Rinchetti
- S. Salani
- L. Calandriello
- G. Forotti
- M. Nizzardo
- F. Magri
- G.P. Comi
- S. Corti
- R. Piras
- M.A. Maioli
- M.R. Murru
- G. Costa
- E. Solla
- C. Mancosu
- R. Mammoliti
- G. Marrosu
- A. Roos
- M. Wiessner
- D. Cox
- D. Hathazi
- C. Marini-Bettolo
- V. Straub
- R. Barresi
- J. Senderek
- H. Lochmüller
- R. Rossi
- C. Scotton
- L. Maggi
- A. D'Amico
- G. Ricci
- L. Vercelli
- S. Benedetti
- E. Bertini
- E. Mercuri
- C. Rodolico
- T. Mongini
- N. Carboni
- G. Marrosu
- L. Chico
- L. Santoro
- L. Merlini
- G. Lattanzi
- L. Morandi
- P.J.R. Barton
- R. Buchan
- R. Walsh
- S.A. Cook
- H. Milting
- G. Bonne
- T. Brand
- A. Ferlini
- L. Ruggiero
- F. Mele
- G. Ricci
- L. Vercelli
- M. Govi
- A. Nikolic
- M. Louise
- F. Sera
- A. Berardinelli
- C. Angelini
- G. Antonini
- E. Bucci
- M. Filosto
- M. Cao
- E. Giardina
- E. Pegoraro
- A. Di Muzio
- R. Telese
- L. Maggi
- S. Portaro
- C. Rodolico
- L. Villa
- T. Mongini
- G. Siciliano
- G. Tomelleri
- G. D'Angelo
- M.A. Maioli
- M. Moggio
- L. Santoro
- R. Tupler
- M. Savarese
- M. Johari
- K. Johnson
- A. Torella
- A. Topf
- A. Evilä
- M. Arumilli
- A. Rubegni
- M. Kuhn
- F. Fattori
- F.M. Santorelli
- B. Schoser
- V. Straub
- V. Nigro
- P. Hackman
- B. Udd
- M. Soardi
- M. Carotti
- C. Fecchio
- R. Sacchetto
- D. Sandonà
- F. Trucco
- M. Pedemonte
- C. Romano
- A. Wenzel
- P. Tacchetti
- C. Bella
- R. Falsaperla
- F. Racca
- C. Bruno
- C. Minetti
- G.L. Vita
- A. Catalano
- M. Sframeli
- M.G. Distefano
- M. La Rosa
- C. Barcellona
- C. Bonanno
- G. Nicocia
- C. Profazio
- N. Morabito
- C. Lunetta
- S. Messina
- S. Zanotti
- S. Gibertini
- F. Blasevich
- S. Saredi
- L. Maggi
- C. Bragato
- A. Ruggieri
- R. Mantegazza
چکیده
S OF ORAL COMMUNICATIONS (in alphabetical order of the first Author) Glycosilation of alpha-dystroglycan: one pathway several phenotypes Astrea G., D’Amico A., Battini R., Berardinelli A., Bertini E. , Bruno C., Cassandrini D. , Catteruccia M., Comi G.P., Fattori F., Fiorillo C., Giannotta M., Gorni K., Magri F., Mercuri E., Messina S., Mongini T. , Mora M., Morani F., Moro F., Pane M., Pegoraro E., Pini A., Politano L., Ricci F., Sframeli M., Santorelli F.M. Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Calambrone, Pisa; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, Roma; SC di Neuropsichiatria Infantile, IRCCS Istituto Neurologico Nazionale, Fondazione C. Mondino, Pavia; Neuromuscular Unit, Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Sezione di Neuroscienze, Dipartimento di Fisiopatologia Medica e dei Trapianti, Università degli Studi di Milano, Clinica Neurologica presso IRRCS Fondazione Ca’ Granda Ospedale Maggiore Policlinico di Milano; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze neurologiche di Bologna Centro Clinico Nemo, Milano, Italy; Istituto di Psichiatria, Policlinico Gemelli, Università Cattolica Sacro Cuore, Roma; Department of Clinical and ExperimantalExperimental Medicine, University of Messina and Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina; 10 Dipartimento di scienze della sanità pubblica e pediatriche, Università di Torino; 11 Fondazione IRCCS Istituto Neurologico C. Besta, Milano; 12 Dipartimento di Neuroscienze NPSRR Università di Padova Azienda Ospedaliera Universitaria, Padova; Dipartimento di Medicina Sperimentale. Università degli Studi della Campania “Luigi Vanvitelli” Napoli Alpha-dystroglycanopathy is associated with a wide spectrum of muscle disorders and is the results of mutations in at least 20 genes directly or putatively involved in the glycosylation pathway. We present the phenotypic breakdown in a large Italian cohort of patients presenting with hypoglycosylation of alpha-dystroglycan (a-DG) in muscle biopsy and a molecular definition. Using standardized immunohistochemical staining methods in muscle biopsies, 81 patients with a possible low a-DG glycosylation were referred to us for genetic analyses as part of a multicenter study supported by the Telethon Foundation. For genetic studies we used a targeted resequencing method in NGS that included 95 genes associated with CMD, LGMD or related diseases. Detailed clinical, morphological, and neuroradiological data were collected. A diagnosis was genetically confirmed in 47/81 patients. According to the clinical classification proposed by Godfrey et al (2011) 17 patients were MEB/FCMD, CMD-MR or CMDCRB, and 17 had a diagnosis of CMD-NOMR. Moreover, 2 cases had a LGMD-MR and 9 a LGMD-NOMR. All the cases but 7 had elevated blood CK levels. Asymptomatic high serum CK level was the only manifestation in 2 patients. Two major findings emerge from this study: 1) not all the patients harbour mutations in genes directly related to glycosylation of a-DG and secondary glycoslylation defects can be attributed to several CMD-related genes; 2) no genotype-phenotype correlations seem evident in our cohort. The wide spectrum of phenotypes related to alpha-dystroglycanopathy impose the use of high throughput technologies in clinical practice. Phenotypical and molecular definition of a multi-center cohort of 49 patients with limb girdle muscular dystrophy type 2a Bello L., Magri F., Lazzarotto A., Semplicini C., Fanin M., Gandossini S., Diella E., D’Angelo M.G., Comi G.P., Pegoraro E. 1 Department of Neuroscience, University of Padova, Padova, Italy; Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca’ Granda, Milan, Italy; Neuromuscular Disorders Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy. Limb Girdle Muscular Dystrophy 2A (LGMD2A) is a rare disorder characterized by progressive muscular weakness due to mutations in the CAPN3 gene. We evaluated a population of 49 patients affected with LGMD2A with validated, quantitative outcome measures (OMs). We recruited 22 males and 27 females, aged 8–68 years. Inclusion criteria were 2 mutated CAPN3 alleles (43 patients), or 1 mutation and reduced calpain-3 protein at Western Blot (WB) (6 patients). Onset of symptoms and loss of independent ambulation (LoA) were evaluated retrospectively. We cross-sectionally evaluated patients with North Star Ambulatory Assessment (NSAA), Six Minute Walk Test (6MWT), timed function tests (TFTs), and Performance Upper Limb (PUL). Immunoblot showed absent calpain-3 in 17 patients (35%), a partial defect in 16 (33%), and a normal amount in 9 (18%) (WB unavailable in 7 patients). Age at disease milestones did not differ significantly between genders, while complete calpain-3 deficiency was associated with earlier onset (p = 0.026), earlier LoA (p = 0.017), lower average NSAA score (p = 0.007), shorter 6MWT distance (p = 0.001), slower 10 m walk/run (p = 0.005), slower stand from floor (p = 0.009), and slower climb 4 standard steps velocities (p = 0.019). Male patients showed significantly lower proximal PUL scores (p = 0.021). Age was correlated with NSAA, TFTs, and proximal PUL items, but not with 6MWT and distal PUL items. Protein amount by WB showed no linear correlation with OMs. In conclusion, the presence of reduced or normal calpain-3 protein at WB predicted a milder phenotype. NSAA, 6MWT, TFTs, and shoulder/elbow PUL items are clinically meaningful OMs for calpainopathy. Observational study on the nutritional and metabolic features in Duchenne muscolar dystrophy: the Italian “N&M Duchenne Study” Bertoli S., Baranello G., Foppiani A., Giaquinto E., De Amicis R., Leone A., Battezzati A. International Center for the Assessment of Nutritional Status, ICANS, University of Milan, Italy; 2 Developmental Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy; 3 Dietetic and Nutrition Center, M. Bufalini Hospital, Cesena, Italy In the management of Duchenne Muscular Dystrophy (DMD), nutrition and metabolism are important issues because they can be adversely affected by range of complicating features since early childhood. Boys with DMD are at risk of overweight and obesity due to reduction of physical activity, reduction of basal metabolic rate and use of corticosteroids. On the other hand, delayed gastric emptying, dysphagia and gastroesophageal reflux poses them at risk of underweight. Finally, a critical
منابع مشابه
Proceedings of the XI Congress of the Italian Association of Myology Cagliari, May 2011
omitted in Acta Myologica, Vol. XXX, June 2011
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عنوان ژورنال:
دوره 36 شماره
صفحات -
تاریخ انتشار 2017