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Messaggio
12° CONGRESSO NAZIONALE ASSOCIAZIONE ITALIANA DI MIOLOGIA PDF Stampa E-mail
Venerdì 20 Aprile 2012 15:09

Programma aggiornato Congresso 2012 (file PDF da scaricare e stampare)

LE MALATTIE MUSCOLARI: UN MODELLO PER LA DIAGNOSI, LA TERAPIA E LA PRESA IN CARICO DEI PAZIENTI CON MALATTIE RARE

17 – 19 Maggio 2012 a Baia Samuele Località Punta Sampieri - Scicli (Ragusa)

Programma:

Giovedi’, 17 maggio 2012

8.30 Registrazione dei partecipanti - Saluti delle Autorita’
9.00- 11.00 WORKSHOP - Miopatie dei Cingoli (LGMD): recenti acquisizioni cliniche e genetiche Moderatori: G. Vita (Messina), M. Mora (Milano)
9.00-9.30 G.P. Comi (Milano) Eterogeneità clinica e genetica nelle forme autosomico recessive
9.30-10.00 C. Angelini (Padova) Forme dominanti: nuovi fenotipi e nuovi geni
10.00-10.30 G. Novelli (Roma) Aspetti clinici e genetici delle Laminopatie
10.30-11.00 G. D’Angelo (Bosisio Parini-LC ) “Standard of care” e terapie sperimentali
11.00- 11.30 Coffee break
11.30-12.15 LETTURA MAGISTRALE - B. Schoser (Munich - Germany) “Myotonic Dystrophy type 2- A phenotype summary of 300 families” Moderatore: R. Massa (Roma)
12.15-13.00 COMUNICAZIONI ORALI : Canalopatie e MiotonieModeratori: G. Antonini (Roma), G. Meola (Milano)
12.15-12.30 Clinical spectrum associated with mutations in SCN4A gene Maggi L. et al. (Milano, Brescia, Torino, Napoli, Como, Padova)
12.30-12.45 High disease impact of skeletal muscle channelopathies onhealth status Sansone V. et al. (Milano, Londra, Torino, Messina)

 

12.45-13.00 Clinical, genetic and muscle studies in myotonic dystrophy type 1 associated with variant CCG expansions. Santoro M. et al. (Roma)

13.00-14.00 Colazione di lavoro

14.00- 15.30 Visione e Discussione Posters Moderatori: M. Mancuso (Pisa), S. Previtali (Milano), C. Terracciano (Roma),G. Di Jorio (Napoli), C.P. Trevisan (Padova), S. Corti (Milano), V. Sansone (Milano), E. Ricci (Roma)

15.30-17.0 Tavola rotonda con le Associazioni dei pazienti “Centri di riferimento e presa in carico dei pazienti” Moderatori: Ambrosini A (Milano), Politano L. (Napoli), T. Mongini (Torino) Responsabili delle Associazioni: M. Melazzini (AISLA) F. Buccella, L. Genovese (Parent Project) A. Fontana, A. Carbone (UILDM) N. Riccobello (ASAMSI) D. Lauro (Famiglie SMA) R. Di Pietro (AIG) P. Santantonio (Mitocon
17.00- 17.30 Coffee break
17.30 - 18.45 COMUNICAZIONI ORALI: Miopatie metaboliche Moderatori: S. Servidei (Roma), M. Filosto (Brescia)

17:30 – 17:45 New quantitative MRI resources: Muscle Fat Fraction (MFF) examination of girdle and respiratory muscles and Its correlations with functional measures in a cohort of late onset GSDII patients. Barca E. et al. (Messina)

17:45 – 18:00 Genetic characterization of a large cohort of McArdle patients Cassandrini D. et al. (Genova, Verona, Milano, Padova, Pisa, Messina, Roma, Monza, Torino, Brescia, Firenze, Napoli, Bologna, Conegliano-TV, Calambrone-PI)
18:00 – 18:15 Genotype-phenotype correlation in Pompe Disease: a step forward De Filippi P. et al. (Pavia)
18:15 – 18:30 New motor function’s outcome measures during 1 year enzyme replacement therapy in 40 late onset GSDII patients Semplicini et al.(Padova, Pavia, Milan, Milan, Verona, Brescia, Roma, Milano, Palermo, Cagliari, Napoli, Torino, Messina)
18:30 – 18:45 Symptomatic heterozygous patients in Late-Onset glycogen storage disease type 2 Vercelli L. et al. (Torino, Pavia, Milano)
18.45-19.45 COMUNICAZIONI ORALI: Miopatie congenite Moderatori: C. Minetti (Genova), M. Moggio (Milano)
18.45 – 19.00 Clinical, morphological and genetic data in Italian patients with congenital myopathy Bruno C. et al. (Genova, Roma, Milano, Messina, Padova, Pavia, Torino, Napoli, Bologna, Calambrone-PI)
19.00 – 19.15 Clinical, MRI, morphological and genetic characterization in centronuclear myopathy due to DNM2 mutations Catteruccia M. et al. (Roma, Milano, Napoli, Padova, Calambrone-PI, Genova)
19.15 – 19.30 What prelamin A does to skeletal muscle? Mattioli E. et al. (Bologna)
19.30 – 19.45 Whole exome sequencing as genetic diagnostic tool in Myofibrillar Myopathies Neri M. et al. (Ferrara, Roma, Verona, Rockville)

Venerdi’, 18 maggio 2012

8.30 – 9.30 MUSCLE CLUB Moderatori: C. Bruno (Genova), C. Rodolico (Messina)
8.30 – 8.40 An unusual case of LGMD with an infantile onset Carboni N. et al. (Cagliari, Genova, Ferrara)
8.40 – 8.50 Hemangioma of the semimembranosus muscle in a patient with late onset myopathy Cotelli M.S. et al. (Brescia)
8.50 – 9.00 Myopathy or polymyositis? Manneschi L. et al. (Fidenza, Parma)
9.00 – 9.10 A case of “Double trouble” in a myopathic patient Masciullo M. et al. (Roma)
9.10 – 9.20 A massive vacuolar myopathy with an unusual phenotype and a strange molecular source Parisi D. et al. (Messina, Milano, Modena)
9.10 – 9.20 Therapeutical challenges in a necrotizing myopathy Vercelli L. et al. (Torino)
9.30- 10.15 COMUNICAZIONI ORALI: Distrofie muscolari Moderatori: G. Marrosu (Cagliari), M. Mirabella (Roma)
9.30 – 9.45 Decorin deficiency in muscle of Ullrich Congenital Muscular Dystrophy and Myosclerosis Myopathy patients unrelated to collagen VI genes mutations Pellegrini C. et al (Ferrara, Bologna, Bagheria-PA)
9.45 – 10.00 Scapular Girdle involvement in Facioscapulohumeral muscular dystrophy (FSHD): a MRI study Iannaccone E. et al ( Roma)

10.00 – 10.15 Collagen VI alpha 6 chain expression in skeletal muscle of Ullrich Congenital Muscular Dystrophy and Bethlem myopathy patient Tagliavini F. et al (Bologna, Ferrara, Bagheria-PA, Colonia)
INCONTRO TRA LE ASSOCIAZIONI SCIENTIFICHE AIM-SIAARTI Moderatori: M. Ranieri (Torino), A. Toscano (Messina)
10.15-11.00 LETTURA MAGISTRALE - Z. Argov (Jerusalem - Israel) : "Practical approach to ICU acquired weakness"
11.00-11.30 Coffee break
11.30- 13.10 WORKSHOP - Problematiche anestesiologiche e rianimatorie nelle malattie muscolari
11.30-11.50 L. Morandi (Milano) Come valutare un paziente con iperCKemia
11.50-12.10 T. Mongini (Torino) Ipertermia Maligna e insufficienza d'organo nelle miopatie
12.10-12.40 F. Racca (Alessandria) Gestione peri- ed intra-operatoria dei pazienti con malattie muscolari
12.40-13.10 M. Antonelli (Roma) Approccio ventilatorio al paziente con malattia muscolare
13.15-14-15 Colazione di lavoro
14.15- 15.45 PROGETTI DI RICERCA E PROGRAMMI COLLABORATIVI

15.45-17.05 WORKSHOP - “Next Generation Sequencing”, tecnologie ed impatto nelle Malattie Neuromuscolari Moderatori: A. Ferlini (Ferrara), E. Pegoraro (Padova)
15.45- 16.10 R. Tanzi (Monza) - Tecnologia “Ion torrent”: una rivoluzione nella rivoluzione.
16.10-16.35 L. Beretta (Milano) - Applicazioni cliniche della Next Generation Sequencing: ora , semplice, per tutti.
16.35-17.00 M. Neri (Ferrara) – “ Whole-exome sequencing” per la diagnosi delle malattie muscolari
17.00-17.15 Coffee break
17.15- 18.00 COMUNICAZIONI ORALI : Atrofia Muscolare Spinale Moderatori: L. Morandi (Milano), A. Berardinelli (Pavia)
17.15 – 17.30 Targeted gene correction of Spinal Muscular Atrophy induced pluripotent stem cells and motoneurons as cell source for therapy Corti S. et al. (Milano)
17.30 – 17.45 Phase-II multicenter double-blind placebo-controlled study of tolerability and efficacy of salbutamol in adult type III SMA patients Tiziano F.D. et al. (Roma, Milano, Padova, Torino, Messina, Napoli)
17.45 –18.00 Oxidative defects at muscle histochemistry in 15 genetically-determined SMA cases Ripolone M. et al. (Milano, Medellin, Pavia)
18.00- 18.45 LETTURA MAGISTRALE - R. Tupler (Modena) Distrofia muscolare Facio-Scapolo-Omerale: complessità genetica e nuove prospettive diagnostiche Moderatore: C. Angelini (Padova)

18.45- 20.30 Assemblea dei soci

Sabato, 19 maggio 2012

8.30-9.30 COMUNICAZIONI ORALI: Distrofinopatie Moderatori: A. Prelle (Milano), G. Nigro (Napoli)
8.30 – 8.45 Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing
Bovolenta M. et al. (Ferrara, Francoforte, Londra, Leiden, Newcastle, Roma, Rockville)
8.45 – 9.00 Muscle fibrosis in the sgcb-null mouse model compared to the mdx model Gibertini S. et al. (Milano)
9.00 – 9.15 Pilot study of flavocoxid in ambulant DMD patients Licata N. et al. (Messina)
9.15 – 9.30 Germinal mosaicism and muscular dystrophies Tedeschi S. et al. (Milano, Napoli)
9.30-10.30 COMUNICAZIONI ORALI: Malattie Mitocondriali Moderatori: G. Siciliano (Pisa), P. Tonin (Verona)
9.30 – 9.45 MNGIE therapy: experience with continuous ambulatory peritoneal dialysis, allogeneic stem cell transplantation and carrier erythrocyte entrapped thymidine phosphorylase Filosto M. et al. (Brescia, Londra, Monza, Verona)
9.45 – 10.00 Stimulation of the mitochondrial biogenesis is effective in mitochondrial myopathies Cerutti R. et al. (Milano)
10.00 –10.15 Next-generation sequencing (NGS)-based molecular dissection of mitochondrial infantile hypertrophic cardiomyopathy and lactic acidosis (MIHCLA) Lamperti C. et al. (Milano)

10.15 – 10.30 MERRF - A genotype/phenotype study from the Italian Mitochondrial Registry Siciliano G. and “The Italian Network of Mitochondrial Diseases”
10.30-11.15 LETTURA MAGISTRALE - S. DiMauro (New York – U.S.A.) “Deficienza di CoQ10: fenotipi, genotipi e rimedi" Moderatore: C. Messina (Messina)
11.15- 11.30 Coffee break
11.30- 13.10 WORKSHOP - Le alterazioni del SNC nelle malattie muscolari Moderatori: E. Bertini (Roma), M. Zeviani (Milano)
11.30 – 11.45 S. Messina (Messina) Alterazioni neuroradiologiche e cognitive dell’età evolutiva
11.45-12.00 A. Berardinelli (Pavia) Le crisi epilettiche
12.00-12.15 V. Carelli (Bologna) Disturbi oculari
12.15-12.30 G. Meola (Milano) Alterazioni cognitive e correlati neuroradiologici nelle Miotonie Distrofiche e non-Distrofiche
12.30-12.45 O. Musumeci (Messina) Esistono i disturbi extrapiramidali nelle malattie muscolari ?
13.10 Conclusione del congresso

SESSIONI POSTER: Canalopatie e Miotonie

P1. Sleep breathing disorders in Myotonic Dystrophy type 1 (DM1) and 2 (DM2) Bianchi M.L.E. et al. (Roma)
P2. A Roman Network for the Myotonic Dystrophies: start-up and construction of a patients’ database Bucci E. et al. (Roma)
P3. Vitamin D deficiency and falls in myotonic dystrophies Bugiardini E. et al. (Milano)
P4. Respiratory status at diagnosis in Myotonic Dystrophy type 1 Cagnetti C. et al. (Ancona)
P5. Correlation of ribonuclear inclusions size with biomolecular and clinical findings in myotonic dystrophy type 2 Cardani R. et al. (Milano, Pavia, Roma)
P6. Myotonia congenita with an atypical phenotype and a novel CLCN1 gene mutation Portaro S. et al. (Messina)
P7. Correlation between CUGBP1 expression to biomolecular, clinical and histopatological phenotype in DM1 and DM2 patients Renna L.V. et al. ( Milano, Roma)
P8. The frequency and severity of cardiac abnormalities are reduced in myotonic dystrophies type 2 (DM2) compared to type 1 Sansone V. et al. (Milano)
P9. Vitamin D deficiency in myotonic dystrophy type 1 Terracciano C. et al. (Roma)

SESSIONI POSTER: Malattie Mitocondriali

P10. New genotype-phenotype correlations in subjects with POLG1
mutations  Borgione E. et al. (Troina-EN)
P11. Unusual phenotype associated with the 3271T>C mutation in the mitochondrial tRNALeu(UUR) gene Brisca G. et al. (Genova, Calambrone-PI)
P12. SANDO/MNGIE-Like overlap syndrome due to polymerase gammamutation Buono R. et al. (Verona, Udine, Brescia)
P13. Successful intravenous immunoglobulin treatment in a mitochondrial
patient with acute respiratory failure Caldarazzo Ienco E. et al. (Pisa)
P14. Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK tRNALys mutation Cardaioli E. et al. (Siena, Parigi)
P15. T10158C mutation in ND3 gene causes mitochondrial overlap syndrome: a case report Carluccio M. A. et al. (Siena,  Perugia, Spoleto)
P16. Markedly effective gene therapy in an Ethylmalonic Encephalopathy mouse model Di Meo I. et al. (Milano, Napoli, Padova)
P17. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis Ghezzi D. et al. (Milano, Parma, Neuherberg, Monza, Padova)
P18. Microscaleoxygraphy unveils respiratory chain defects in cells from mitochondrial disease patients Invernizzi F. et al. (Milano, Copenhagen, Pavia)

P19. MELAS-like encephalomyopathy caused by a new pathogenic mutation in mitochondrial DNA encoded cytochrome c oxidase subunit I Lamperti C. et al. (Milano)
P20. Association between ischemic lactate and NADH:ferricyanide-reductase muscle activity Orsucci D. et al. (Pisa)
P21. Centronuclear myopathy with ragged red fibers and mtDNA multiple deletions: a case report Ricci G. et al. (Pisa, Milano, Roma)
P22. Sengers syndrome: clinical, morphological and genetic features in two families Robbiano A. et al. (Genova, Calambrone-PI)
P23. A novel mithocondrialtRNAHyspoint mutation in a patient with PSP-like phenotype Romeo S. et al. (Messina)
P24. Hyperckemia as isolated feature of mitochondrial G5540A tRNATrp gene mutation Russignan A. et al. (Verona, Brescia)
P25. THE ROLE OF BRAIN MRI IN MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Scarpelli M. et al. (Verona, Brescia)

SESSIONI POSTER: Miopatie Metaboliche

P26. An unusual clinical presentation of Pompe disease characterized by a severe distal myopathy Biasini F. et al. (Messina)

P27. Geno-phenotyping of a large Italian family with late-onset glycogenosis II Cipullo F. et al. (Napoli, Messina, Padova)

P28. A family with epilepsy, choreo-athetoid movements, mental retardation and exercise-induced rhabdomyolysis: expanding the spectrum of GLUT-1
Deficiency Syndrome ? Montagnese F. et al. ( Messina, Catanzaro, Reggio Calabria, Cosenza)
P29. Trunk muscle involvement in 21 patients with late-onset Pompe disease Ravaglia S. et al. (Pavia)
P30. A novel mutation in CPT2 gene in two unrelated patients from Campania region Taglia A. et al. (Napoli, Milano)
P31. Bone pathology in Pompe disease: high incidence of micro-fractures in a group of patients without risk factors for osteoporosis Zappini F. et al. (Verona, Brescia, Padova)

SESSIONI POSTER: Atrofie Muscolari Spinali

P32. Proposal of a structured protocol for the assessment of bone metabolism and bone mineral density in children with SMA Baranello G. et al. (Milano, Pavia)
P33. Bone health determinants in spinal muscular atrophy Brigati G. et al. (Genova)
P34. Genotype- phenotype correlation in dHMN with infantile onset. Fiorillo G. et al. (Calambrone-PI, Bologna, Milano, Pavia, Genova)
P35. Sleep-wake cycle in the Kennedy’s disease Liguori C. et al. (Roma)
P36. Mechanical cough assist in SMA1 patients under 1 years of age Pedemonte M. et al. (Genova, Milano)
P37. Normal cardiac function in Kennedy’s disease Querin G. et al. (Padova, Milano, Novara, Verona)

SESSIONI POSTER: Distrofinopatie e altre distrofie muscolari

P38. Earlier cardiomyopathy onset in DMD patients carrying the TT genotype AT SPP1 rs28357094 Barp A. et al. (Padova, Milano, Napoli, Messina, Washington DC )
P39. A novel PTRF-CAVIN mutation in a patient with congenital lipodystrophy and mild muscular dystrophy Bragato C. et al. (Milano, Bergamo)
P40. Whole Exome Sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: search for dystrophin gene modifiers Brioschi S. et al. (Ferrara, Roma, Bari, Rockville)
P41. Role of calcineurin/NFAT on muscle regeneration in dystrophic process Cama A. et al. (Messina)
P42. Pitfalls in FSHD molecular diagnosis: FSHD2 and undetected D4Z4 repeats contractions Cao M. et al. (Padova, Nizza, Leiden)
P43. A clinical entity with muscular dystrophy, partial lipodystrophy, hypertriglicemia and diabetes in search for the causative gene Carboni N. et al. (Cagliari, Roma, Monserato)
P44. Non progressive dysferlinopathy: benign course or response to steroids? Cuccagna C. et al. (Roma)
P45. Implication of SIRT1 and its downstream pathways in dystrophic process De Pasquale M.G. et al. (Messina)
P46. Implication of SIRT1 and its downstream pathways in dystrophic process Falzarano M.S. et al. (Ferrara, Bologna, Alessandria, Padova, Leiden)
P47. Vitamin D and Bone Mineral Status in children affected by Duchenne Muscle Disease (DMD) treated with glucocorticoid: preliminary data Inguaggiato E. et al. (Calambrone-PI)

P48. Body composition and muscle strength of individuals with Bethlem myopathy and Ullrich congenital muscular dystrophy Miscione M.T. et al. (Bologna)
P49. Deletion of TRIM 32 gene in compound heterozygosis with a stop mutation: report of a case Neri M. et al. (Ferrara, Verona)
P50. lower limb muscle involvement as clinical presentation of FSHD: a clinical study on 122 CASES Pastorello E. et al. (Padova)
P51. Estimating body composition in adult individuals with Bethlem myopathy: comparison of bioelectrical impedance analysis and skin foldthickness measurement Pellegrini M. et al. (Modena, Bologna)
P52. Body composition and resting energy expenditure of adult individuals with Bethlem myopathy and Ullrich congenital muscular dystrophy Pellegrini M. et al. (Modena, Bologna)
P53. Intragenerational phenotype-genotype variability in
FSHD: the D4Z4short fragment might not be enough Peverelli L. et al. (Milano, Piancavallo, Helsinki, Modena)
P54. A novel homozygous beta-sarcoglycan gene mutation: case description Ricci G. et al. (Pisa, Napoli)
P55. Slightly defective α-dystroglycan glycosylation in a patient with mild limb girdle muscle dystrophy due to novel POMT2 mutations Saredi S. et al. (Milano)
P56. Congenital muscular dystrophy with FKRP mutation Trovato R. et al. (Calambrone-PI)
P57. Effects of steroids on Left Ventricular Ejection Fraction in cardiopathic
DMD patients Trucco F. et al. (Genova)

P58. X-Chromosome inactivation pattern in Duchenne muscular dystrophy carriers Viggiano E. et al. (Napoli)
P59. DMD fibroblast nodules: an in vitro model potentially useful for highthroughput screening in muscle fibrosis Zanotti S. et al. (Milano)

SESSIONI POSTER: Miastenia, Miopatie Congenite, Miositi, Varie

P60. Inflammatory myopathy and systemic sarcoidosis in a patient with myasthenia gravis Alfonzo A. et al. (Messina)
P61. Congenital myopathy associated to MHY2 mutation: Italian case report D’Amico A. et al. (Roma)
P62. A study on ventilatory device effectiveness and impact on patients quality of life: ARIA project Fossati F. et al. (Milano)
P63. “AT SCHOOL WITH NEMO” an educational and skill training project for caregivers of children affected by Neuromuscular Disorders (NMD’s). Gorni K. et al. (Milano)
P64. Adiponectin induces proliferation and enhances skeletal muscle differentiation of IBM mesoangioblasts in vitro and in vivo Lucchini M. et al. (Roma)
P65. A novel intronic LaminA/C substitution associated with a muscle pattern suggestive for myofibrillar myopathy Magri F. et al. (Milano)
P66. Whole Exome Sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia Neri M. et al. (Ferrara, Verona, Roma)

P67. Modeling Alpha-Dystroglycanopathies in Zebrafish Pappalardo A. et al. (Calambrone-PI, Firenze, Genova)
P68. Clinical and pathological work up in a case of infantile “idiopathic” toe walker.
Pini A. et al. (Bologna)
P.69. A 80-year-old man with myalgia, hyper-CK-aemia, hypocoagulability and vitamin-D deficiency Pizzolato R. et al. (Roma)
P70. Life-threatening dysphagia as the only manifestation of sporadic inclusion body myositis (sIBM) Primiano G. et al. (Roma)
P71. The mandatory role of muscle biopsy in sporadic IBM: a case report Salaroli R. et al. (Bologna)
P72. Congenital myastenic syndromes due to a novel GFPT1 mutation: a new Italian case Sframeli M. et al. (Messina, Monaco, Newcastle)
P73. Amyloid myopathy mimicking polymyositis Velardo D. et al. (Milano)

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