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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/30057998/proceedings-of-the-xiii-congress-of-mediterranean-society-of-myology-avanos-turkey-june-27-29-2018
#1
(no author information available yet)
No abstract text is available yet for this article.
June 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/30057997/long-term-history-of-a-congenital-core-rod-myopathy-with-compound-heterozygous-mutations-in-the-nebulin-gene
#2
Gilbert Wunderlich, Anna Brunn, Hülya-Sevcan Daimagüler, Tarik Bozoglu, Gereon R Fink, Helmar C Lehmann, Joachim Weis, Sebahattin Cirak
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. The patient reported early childhood onset weakness. Muscle-MRI showed mainly proximal muscle involvement. We identified two compound heterozygous non-sense mutations in NEB (c...
June 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/30057996/novel-mosaic-mutation-in-the-dystrophin-gene-causing-distal-asymmetric-muscle-weakness-of-the-upper-limbs-and-dilated-cardiomyopathy
#3
Joana Ribeiro, Olinda Rebelo, Ana Fernández-Marmiesse, Luís Negrão
A group of heterogeneous muscle diseases are caused by dystrophin gene ( DMD ) mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination revealed severe atrophy of right thenar muscles, flexion contractures on the right elbow, wrist and fingers, bilateral calf hypertrophy, myotatic areflexia in the upper limbs and hyporeflexia in the lower limbs...
June 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/30079400/proceedings-of-the-xviii-congress-of-the-italian-association-of-myology-genoa-italy-june-6-9-2018
#4
(no author information available yet)
No abstract text is available yet for this article.
May 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/30079399/usefulness-of-the-external-loop-recorder-in-a-patient-with-myotonic-dystrophy-type-1-and-recurrent-episodes-of-palpitations-evaluation-of-the-follow-up-from-diagnosis-to-6-month-post-cardiac-interventional-treatment
#5
Anna Rago, Andrea Antonio Papa, Dario Galante, Antonio Cassese, Paolo Golino
A patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations is reported, in which the application of an external loop recorder (ELR) was useful for the diagnosis and post radiofrequency ablation follow-up of typical atrial flutter.
May 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/30079398/-sigmar1-gene-mutation-causing-distal-hereditary-motor-neuropathy-in-a-portuguese-family
#6
Luciano Almendra, Francisco Laranjeira, Ana Fernández-Marmiesse, Luís Negrão
SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life...
May 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
(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
#14
(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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
(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
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