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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/28690393/effect-on-lung-function-of-mounthpiece-ventilation-in-steinert-disease-a-case-report
#1
Anna Annunziata, Giuseppe Fiorentino, Antonio Esquinas
In patients with muscular dystrophies both muscle length tension relationship changes and muscle elasticity and plasticity are decreased, resulting in impaired inspiratory muscle function and decreased vital capacity. Furthermore, the loss of deep breathing further increases the risk of alveolar collapse, hypoventilation and atelectasias. In this case report, a stable improvement of vital capacity after treatment with mounthpiece ventilation (MPV), was observed, suggesting that not invasive ventilation (NIV) might help to maintai lung and chest wall compliance, prevent hypoventilation and atelectasias which in turn may slow down the development of the restrictive respiratory pattern...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690392/congenital-myasthenic-syndrome-phenotypic-variability-in-patients-harbouring-p-t159p-mutation-in-chrne-gene
#2
Anna Ardissone, Isabella Moroni, Pia Bernasconi, Raffaella Brugnoni
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the neuromuscular junction, are currently known to be associated with subtypes of CMS. The most common CMS syndrome identified is associated with mutation in the CHRNE gene, causing principally muscle nicotinic acetylcholine receptor deficiency, that results in reduced receptor density on the postsynaptic membrane...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690391/mitochondrial-ant-1-related-adpeo-leading-to-cognitive-impairment-is-there-a-link
#3
Costanza Simoncini, Gabriele Siciliano, Gloria Tognoni, Michelangelo Mancuso
ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Italian 74 years old woman with ANT1-related adPEO and dementia. Further studies are needed to assess the prevalence of central neurological manifestations in ANT1 mitochondrial disease.
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690390/integrated-care-of-muscular-dystrophies-in-italy-part-1-pharmacological-treatment-and-rehabilitative-interventions
#4
Luisa Politano, Marianna Scutifero, Melania Patalano, Alessandra Sagliocchi, Antonella Zaccaro, Federica Civati, Erika Brighina, Gianluca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Giulia Ricci, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Lorenza Magliano
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD)...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690389/personality-traits-in-patients-with-myotonic-dystrophy-type-2
#5
Teodora Paunic, Stojan Peric, Aleksandra Parojcic, Dusanka Savic-Pavicevic, Milorad Vujnic, Jovan Pesovic, Ivana Basta, Dragana Lavrnic, Vidosava Rakocevic-Stojanovic
Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients. Personality traits were assessed with the Millon Multiaxial Clinical Inventory III (MMCI III). In DM2 group there were no scale with pathological scores, although compulsive and paranoid traits were the most prominent...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690388/-23-na-mri-and-myometry-to-compare-eplerenone-vs-glucocorticoid-treatment-in-duchenne-dystrophy
#6
Philip A Glemser, Heike Jaeger, Armin M Nagel, Andreas E Ziegler, David Simons, Heinz-Peter Schlemmer, Frank Lehmann-Horn, Karin Jurkat-Rott, Marc-André Weber
In this pilot study we tested whether a low dose application of a mild diuretic substance such as eplerenone is beneficial in early stages of Duchenne muscular dystrophy using (23)Na und (1)H imaging, myometry, and clinical testing versus the glucocorticoid gold standard. Two 7-years old patients with DMD were examined on a 3T MRI system. (1)H MRI and (23)Na density-adapted 3-dimensional radial MRI sequences were performed both before and 1, 3 and 6 months after therapy with eplerenone respectively cortisone...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690387/editorial
#7
Giovanni Nigro
No abstract text is available yet for this article.
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484315/hard-ways-towards-adulthood-the-transition-phase-in-young-people-with-myotonic-dystrophy
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
(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
#20
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
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