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Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology

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https://www.readbyqxmd.com/read/27843283/proceedings-of-the-xvi-congress-of-the-italian-society-of-myology-lecce-italy-june-8-11-2016
#1
(no author information available yet)
No abstract text is available yet for this article.
May 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27843282/acta-myologica-online
#2
EDITORIAL
Vincenzo Nigro
No abstract text is available yet for this article.
May 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199543/minutes-of-the-european-pompe-consortium-epoc-meeting-march-27-to-28-2015-munich-germany
#3
Benedikt Schoser, Pascal Laforêt, Michelle E Kruijshaar, Antonio Toscano, Pieter A van Doorn, Ans T van der Ploeg
No abstract text is available yet for this article.
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199542/rhabdomyolysis-in-hyponatremia-and-paraneoplastic-syndrome-of-inappropriate-antidiuresis
#4
Elisabetta D'Adda, Rosina Paletta, Fabio Brusaferri, Antonio Cagnana, Maria Teresa Ferrò, Michele Gennuso, Isabella Ghione, Riccardo Saponara, Alessandro Prelle
We report a 26-year-old woman admitted to our hospital for generalized tonic seizure. Laboratory investigations revealed severe hyponatremia possibly triggered by vomiting and diarrhea. 24 hours after correction of hyponatremia she developed diffuse myalgias and marked hyperCKemia. Syndrome of inappropriate antidiuresis (SIAD) was suspected as cause of hyponatremia. Abnormal vaginal bleeding prompts gynecological evaluation and a small-cell carcinoma of uterine cervix was detected.
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199541/muscle-histology-changes-after-short-term-vibration-training-in-healthy-controls
#5
Benedikt Schoser
In search for additional counter measures of muscle atrophy vibration exercise training may have substantial effort for patients with neuromuscular disorders. To cover safety aspects and obtain muscle morphology data, a pilot study was performed in eleven healthy men. Countermovement jump, squat jump, drop jump and one repetition maximum test (1RM) were performed on a force platform before and after a 6 week training period. No severe side effects were found. Repeated needle muscle biopsies of the vastus lateralis muscle revealed a selective pre- to post-training type-2 myofiber hypertrophy of up to 50 %...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199540/multidimensional-aspects-of-pain-in-myotonic-dystrophies
#6
Marina Peric, Stojan Peric, Nada Rapajic, Valerija Dobricic, Dusanka Savic-Pavicevic, Ivana Nesic, Svetlana Radojicic, Ivana Novakovic, Dragana Lavrnic, Vidosava Rakocevic-Stojanovic
To analyze the frequency and intensity of pain and its association with different characteristics of patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2), 52 adult genetically confirmed DM1 and 44 DM2 patients completed the Brief Pain Inventory questionnaire (BPI). Frequency and average intensity of pain on numerical rating scale (0-10) were similar in DM1 and DM2 (88% vs. 86% and 4.6 ± 2.3 vs. 4.2 ± 1.8, respectively, p > 0.05). In DM1, average pain intensity showed strong association with longer duration of disease and inverse relation with cognition...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199539/a-multi-parametric-protocol-to-study-exercise-intolerance-in-mcardle-s-disease
#7
Giulia Ricci, Federica Bertolucci, Annalisa Logerfo, Costanza Simoncini, Riccardo Papi, Ferdinando Franzoni, Giacomo Dell'Osso, Adele Servadio, Maria Chiara Masoni, Gabriele Siciliano
McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199538/novel-mutations-in-lmna-a-c-gene-and-associated-phenotypes
#8
Roberta Petillo, Paola D'Ambrosio, Annalaura Torella, Antonella Taglia, Esther Picillo, Alessandro Testori, Manuela Ergoli, Gerardo Nigro, Giulio Piluso, Vincenzo Nigro, Luisa Politano
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing different phenotypes, ranging from the early onset congenital form of laminopathy to classical LGMD phenotype, to LGMD and heart involvement...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199537/imaging-alterations-in-skeletal-muscle-channelopathies-a-study-in-15-patients
#9
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Elio Maccagnano, Pia Bernasconi, Lucia Morandi
Skeletal muscle channelopathies (SMC), including non dystrophic myotonias (NDM) and periodic paralyses (PP), are characterized by considerable clinical overlap and clinical features not always allow addressing molecular diagnosis. Muscle imaging has been shown to be useful for differential diagnosis in neuromuscular disorders, however it has been relatively poorly investigated in SMC. We studied 15 patients affected by genetically confirmed SMC (NDM = 9, PP = 6) through muscle MRI or CT of thighs and legs, including 11 patients mutated in SCN4A gene, 2 in CACNA1S and 2 in CLCN1...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199536/muscle-mri-in-muscular-dystrophies
#10
Jordi Díaz-Manera, Jaume Llauger, Eduard Gallardo, Isabel Illa
Muscle MRI has become a very useful tool in the diagnosis and follow-up of patients with muscle dystrophies. Muscle MRI provides us about many aspects of the structure and function of skeletal muscles, such as the presence of oedema or fatty infiltration. In the last years many reports have described the particular muscles that are involved in these muscle disease. This knowledge can facilitate the diagnosis in many cases. In the present paper we review the main changes observed in muscle MRI of patients with muscle dystrophies...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27199535/magnetic-resonance-imaging-in-muscular-dystrophies
#11
Luisa Politano, Giovanni Nigro
No abstract text is available yet for this article.
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155067/xv-congress-of-the-italian-society-of-myology-naples-italy-may-20-23-2015-program-summary
#12
(no author information available yet)
No abstract text is available yet for this article.
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155066/xii-congress-of-mediterranean-society-of-myology-naples-italy-may-18-20-2015-program-summary
#13
(no author information available yet)
No abstract text is available yet for this article.
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155065/letter-to-the-editor
#14
LETTER
Guenter Scheuerbrandt
No abstract text is available yet for this article.
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155064/clinical-features-of-patients-with-dystrophinopathy-sharing-the-45-55-exon-deletion-of-dmd-gene
#15
REVIEW
Antonella Taglia, Roberta Petillo, Paola D'Ambrosio, Esther Picillo, Annalaura Torella, Chiara Orsini, Manuela Ergoli, Marianna Scutifero, Luigia Passamano, Alberto Palladino, Gerardo Nigro, Luisa Politano
Becker muscular dystrophy (BMD) was first described in 1953 by Emile Becker as a benign variant of Duchenne muscular Dystrophy (DMD). Compared with DMD, BMD is clinically more heterogeneous, with initial presentation in the teenage years and loss of ambulation beyond the age of 16 and a wide spectrum of clinical presentations, ranging from only myalgias and muscle cramps to exercise intolerance and myoglobinuria, asymptomatic elevation of serum creatin-kinase, or mild limb-girdle weakness and quadriceps myopathy...
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155063/muscle-exercise-in-limb-girdle-muscular-dystrophies-pitfall-and-advantages
#16
REVIEW
Gabriele Siciliano, Costanza Simoncini, Stefano Giannotti, Virna Zampa, Corrado Angelini, Giulia Ricci
Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders...
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/26155062/increasing-awareness-of-myology-it-s-time-for-its-recognition-as-an-independent-discipline-within-the-medical-sciences
#17
EDITORIAL
Giovanni Nigro, Luisa Politano
No abstract text is available yet for this article.
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/25873785/facio-scapulo-humeral-muscular-dystrophy-and-its-connection-with-facio-scapuloperoneal-muscular-dystrophy-4q35-linked-some-historical-remarks
#18
LETTER
(no author information available yet)
No abstract text is available yet for this article.
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/25873784/ventricular-fibrillation-induced-by-coagulating-mode-bipolar-electrocautery-during-pacemaker-implantation-in-myotonic-dystrophy-type-1-patient
#19
Vincenzo Russo, Anna Rago, Federica DI Meo, Nadia Della Cioppa, Andrea Antonio Papa, Maria Giovanna Russo, Gerardo Nigro
The occurrence of ventricular fibrillation, induced by bipolar electrocautery during elective dual chamber pacemaker implantation, is reported in a patient affected by Myotonic Distrophy type 1 with normal left ventricular ejection fraction.
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/25873783/charcot-marie-tooth-4b2-caused-by-a-novel-mutation-in-the-mtmr13-sbf2-gene-in-two-related-portuguese-families
#20
Luís Negrão, Luciano Almendra, Joana Ribeiro, Anabela Matos, Argemiro Geraldo, Jorge Pinto-Basto
INTRODUCTION: CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction velocities are markedly reduced and focally folded myelin sheaths are present on nerve biopsies. We presented two patients from two related Portuguese families with peripheral neuropathy caused by a novel mutation in the MTMR13/SBF2 gene. CASE REPORT: Family 1: Patient 1: A 30-year-old woman, with disease onset in early childhood presented pes cavus and hammertoes and walked with a steppage gait...
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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