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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/28484315/hard-ways-towards-adulthood-the-transition-phase-in-young-people-with-myotonic-dystrophy
#1
REVIEW
Sigrid Baldanzi, Giulia Ricci, Costanza Simoncini, Mirna Cosci O Di Coscio, Gabriele Siciliano
Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural problems and intellectual disability, finally impacting on their degree of engagement in family, work and social activities. The transition phase, representing the process of moving from adolescence to adulthood, can be severely affected by growing up with a neuromuscular disorder, with significant impact on patient's and families' quality of life...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484314/new-generation-emerging-technologies-for-neurorehabilitation-and-motor-assistance
#2
REVIEW
Antonio Frisoli, Massimiliano Solazzi, Claudio Loconsole, Michele Barsotti
This paper illustrates the application of emerging technologies and human-machine interfaces to the neurorehabilitation and motor assistance fields. The contribution focuses on wearable technologies and in particular on robotic exoskeleton as tools for increasing freedom to move and performing Activities of Daily Living (ADLs). This would result in a deep improvement in quality of life, also in terms of improved function of internal organs and general health status. Furthermore, the integration of these robotic systems with advanced bio-signal driven human-machine interface can increase the degree of participation of patient in robotic training allowing to recognize user's intention and assisting the patient in rehabilitation tasks, thus representing a fundamental aspect to elicit motor learning...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484313/management-of-cardiac-involvement-in-muscular-dystrophies-paediatric-versus-adult-forms
#3
REVIEW
Alberto Palladino, Paola D'Ambrosio, Andrea Antonio Papa, Roberta Petillo, Chiara Orsini, Marianna Scutifero, Gerardo Nigro, Luisa Politano
Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both primary myocardial involvement and secondary involvement due to respiratory insufficiency, pulmonary hypertension or reduced mobility. Primary myocardial involvement usually begins more precociously compared to the secondary involvement. In fact the first signs of cardiomyopathy can be observed in the first decade of life in muscular dystrophies with childhood onset and later in adult form of muscular dystrophies as myotonic dystrophy type 1...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484312/genetic-diagnosis-as-a-tool-for-personalized-treatment-of-duchenne-muscular-dystrophy
#4
REVIEW
Luca Bello, Elena Pegoraro
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484311/editorial
#5
EDITORIAL
Gabriele Siciliano, Filippo Maria Santorelli, Roberta Battini
No abstract text is available yet for this article.
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344442/voltage-directed-cavo-tricuspid-isthmus-ablation-using-a-novel-ablation-catheter-mapping-technology-in-a-myotonic-dystrophy-type-i-patient
#6
Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Federica Di Meo, Carmine Ciardiello, Giovanni Cimmino, Gerardo Nigro
A successful case of maximum voltage-directed cavo-tricuspid isthmus (CTI) ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I (DM1) patient is reported. The patient complained recurrent episodes of atrial flutter, revealed by the atrio-ventricular electrograms analysis during the routine pacemaker controls.
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344441/successful-treatment-of-periodic-paralysis-with-coenzyme-q10-two-case-reports
#7
Yuwei Da, Lin Lei, Karin Jurkat-Rott, Frank Lehmann-Horn
Primary periodic paralyses (PPs) are autosomal dominant ion channel disorders characterized by episodic flaccid weakness associated with variations in serum potassium level. The main prophylactic therapy of choice for PPsis carbonic anhydrase inhibitors that are not always effective. In this report, we described two PP patients who were successfully treated with coenzyme Q10. They remained asymptomatic since initiation of treatment, which may be associated with promotion of energy synthesis, anti-oxidant activity, influence of the fiber type composition and regulation of the expression of gene...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344440/increased-heterogeneity-of-ventricular-repolarization-in-myotonic-dystrophy-type-1-population
#8
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Paola D'Ambrosio, Giovanni Cimmino, Alberto Palladino, Luisa Politano, Gerardo Nigro
Sudden cardiac death in myotonic dystrophy type I (DM1) patients can be attributed to atrioventricular blocks as far as to the development of life-threatening arrhythmias which occur even in hearts with normal left ventricular systolic and diastolic function. Heterogeneity of ventricular repolarization is considered to provide an electrophysiological substrate for malignant arrhythmias. QTc dispersion (QTc-D), JTc dispersion (JTc-D) and transmural dispersion of repolarization (TDR) could reflect the physiological variability of regional and transmural ventricular repolarization...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344439/family-context-in-muscular-dystrophies-psychosocial-aspects-and-social-integration
#9
Lorenza Magliano, Luisa Politano
Muscular dystrophies (MDs) are degenerative diseases which may led to marked functional impairment and reduced life expectancy. Being caregivers of a loved one with MD may be both a rewarding and a demanding experience that may have relevant impact on the quality of life of the whole family. In this short review we summarize the main findings of the first survey on family context in MD in Italy. The study was carried out on 502 key-relatives of patients suffering from Duchenne, Becker, or Limb-Girdle MD, aged between 4 and 25 years, and attending one of 8 participating Centers, all over 2012...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#10
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344437/eplerenone-repolarizes-muscle-membrane-through-na-k-atpase-activation-by-tyr10-dephosphorylation
#11
Simon Breitenbach, Frank Lehmann-Horn, Karin Jurkat-Rott
Eplerenone, an aldosterone antagonist, repolarizes muscle membrane in-vitro and increases strength in-vivo in channelopathies. In Duchenne dystrophy, it is administered for cardiomyopathy. We studied its mechanism of action on skeletal muscle to test its suitability for increasing strength in Duchenne dystrophy. Using membrane potential measurements, quantitative PCR, ELISA, and Western blots, we examined the effects of eplerenone on skeletal muscle Na,K-ATPase. The repolarizing effect of eplerenone in muscle fibres was counteracted by oubain, an ATPase blocker...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27843283/proceedings-of-the-xvi-congress-of-the-italian-society-of-myology-lecce-italy-june-8-11-2016
#12
(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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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