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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/29770366/complete-resolution-of-left-atrial-appendage-thrombosis-with-oral-dabigatran-etexilate-in-a-patient-with-myotonic-dystrophy-type-1-and-atrial-fibrillation
#1
Anna Rago, Andrea Antonio Papa, Giulia Arena, Marco Mosella, Antonio Cassese, Alberto Palladino, Paolo Golino
Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adult life characterized by muscle dysfunction and cardiac conduction abnormalities. Atrial fibrillation frequently occurs in DM1 patients. It's related to the discontinuous and inhomogeneous propagation of sinus impulses and to the prolongation of atrial conduction time, caused by progressive fibrosis and fatty replacement of the myocardium. AF predisposes to a hyper-coagulable state and to an increased risk of thromboembolism. We report the first case of complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a myotonic dystrophy type I patient with atrial fibrillation scheduled for transesophageal echocardiogram-guided direct current cardioversion...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770365/is-the-epicardial-left-ventricular-lead-implantation-an-alternative-approach-to-percutaneous-attempt-in-patients-with-steinert-disease-a-case-report
#2
Andrea Antonio Papa, Anna Rago, Roberta Petillo, Paola D'Ambrosio, Marianna Scutifero, Marisa DE Feo, Ciro Maiello, Alberto Palladino
Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac conduction abnormalities. Although mild myocardial dysfunction may be detected in this syndrome with age, overt myocardial dysfunction with heart failure is not frequent. Cardiac resynchronization therapy is an effective treatment to improve morbidity and reduce mortality in patients with DM1 showing intra-ventricular conduction delay and/or congestive heart failure...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770364/three-new-cases-of-dilated-cardiomyopathy-caused-by-mutations-in-lmna-gene
#3
Larysa N Sivitskaya, Nina G Danilenko, Tatiyana G Vaikhanskaya, Tatsiyana V Kurushka, Oleg G Davydenko
Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770363/the-multifaceted-clinical-presentation-of-vcp-proteinopathy-in-a-greek-family
#4
George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770362/study-of-anti-m%C3%A3-llerian-hormone-levels-in-patients-with-myotonic-dystrophy-type-1-preliminary-results
#5
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770361/differential-diagnosis-of-vacuolar-muscle-biopsies-use-of-p62-lc3-and-lamp2-immunohistochemistry
#6
Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM)...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774309/errata
#7
(no author information available yet)
[This corrects the article on p. 41-45 in vol. 36.].
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774308/errata
#8
(no author information available yet)
[This corrects the article on p. 19-24 in vol. 36.].
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#9
Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3 ), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#10
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774305/multi-slice-mri-reveals-heterogeneity-in-disease-distribution-along-the-length-of-muscle-in-duchenne-muscular-dystrophy
#11
Stephen M Chrzanowski, Celine Baligand, Rebecca J Willcocks, Jasjit Deol, Ilona Schmalfuss, Donovan J Lott, Michael J Daniels, Claudia Senesac, Glenn A Walter, Krista Vandenborne
Background: Duchenne muscular dystrophy (DMD) causes progressive pathologic changes to muscle secondary to a cascade of inflammation, lipid deposition, and fibrosis. Clinically, this manifests as progressive weakness, functional loss, and premature mortality. Though insult to whole muscle groups is well established, less is known about the relationship between intramuscular pathology and function. Objective: Differences of intramuscular heterogeneity across muscle length were assessed using an ordinal MRI grading scale in lower leg muscles of boys with DMD and correlated to patient's functional status...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774304/arrhythmogenic-right-ventricular-cardiomyopathy-in-boxer-dogs-the-diagnosis-as-a-link-to-the-human-disease
#12
Annina S Vischer, David J Connolly, Caroline J Coats, Virginia Luis Fuentes, William J McKenna, Silvia Castelletti, Antonios A Pantazis
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease with an increased risk for ventricular arrhythmias. The condition, which occurs in Boxer dogs, shares phenotypic features with the human disease arrhythmogenic cardiomyopathy (ACM) suggesting its potential as a natural animal model. However, there are currently no universally accepted clinical criteria to diagnose ARVC in Boxer dogs. We aimed to identify diagnostic criteria for ARVC in Boxer dogs defining a more uniform and consistent phenotype...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#13
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28781516/proceedings-of-the-xvii-congress-of-the-italian-association-of-myology-siracusa-italy-may-31-june-3-2017
#14
(no author information available yet)
No abstract text is available yet for this article.
June 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28781515/integrated-care-of-muscular-dystrophies-in-italy-part-2-psychological-treatments-social-and-welfare-support-and-financial-costs
#15
Lorenza Magliano, 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, Luisa Politano
This paper describes the psycho-social treatments received by 502 patients with MDs and their relatives, and the costs for care sustained by the families in the previous six month period. Data were collected by the MD-Care Schedule (MD-CS) and the Family Problems Questionnaire (FPQ). Psycho-educational interventions were provided to 72 patients (14.3%), and social/welfare support to 331 patients (65.9%). Social/welfare support was higher in patients with DMD or LGMD, in those showing more severe disability, and in patients who were in contact with centres located in Northern Italy...
June 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28690393/effect-on-lung-function-of-mounthpiece-ventilation-in-steinert-disease-a-case-report
#16
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
#17
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
#18
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
#19
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
#20
COMPARATIVE STUDY
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
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