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

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https://read.qxmd.com/read/30944907/therapeutic-approach-with-ataluren-in-duchenne-symptomatic-carriers-with-nonsense-mutations-in-dystrophin-gene-results-of-a-9-month-follow-up-in-a-case-report
#1
Paola D'Ambrosio, Chiara Orsini, Vincenzo Nigro, Luisa Politano
Duchenne muscular Dystrophy (DMD) is a X-linked degenerative disorder affecting skeletal muscles and myocardium caused by mutations in the dystrophin gene, mainly deletions and duplications. Point-mutations account for 13% and stop codon mutations are even more unfrequent. A drug treatment for patients with DMD caused by stop codon gene mutations and still ambulant, has become recently available, based on the clear demonstration of its efficacy in slowing the course of the disease. The drug is able to read through the stop codon; furthermore it has the advantage of an oral administration and a better patient's compliance...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30944906/heart-transplantation-in-a-patient-with-myotonic-dystrophy-type-1-and-end-stage-dilated-cardiomyopathy-a-short-term-follow-up
#2
Andrea Antonio Papa, Federica Verrillo, Marianna Scutifero, Anna Rago, Salvatore Morra, Antonio Cassese, Nadia Della Cioppa, Maria Cristina Giada Magliocca, Dario Galante, Alberto Palladino, Paolo Golino, Luisa Politano
Myotonic dystrophy type 1 (DM1) or Steinert's disease is the most common muscular dystrophy in adult life with an estimated prevalence of 1:8000. Cardiac involvement, including arrhythmias and conduction disorders, contributes significantly to the morbidity and mortality of the disease. Mild ventricular dysfunction has also been reported associated with conduction disorders, but severe ventricular systolic dysfunction is not a frequent feature and usually occurs late in the course of the disease. Heart transplantation is currently considered the ultimate gold standard surgical approach in the treatment of refractory heart failure in general population...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30944905/novel-desmoplakin-mutations-in-familial-carvajal-syndrome
#3
Danat Yermakovich, Larysa Sivitskaya, Tatiyana Vaikhanskaya, Nina Danilenko, Iryna Motuk
Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene. We report a patient with CS caused by two novel mutations in DSP gene, inherited from his parents, both asymptomatic. The same phenotype was present in his younger sister who showed skin abnormality and woolly hairs...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30944904/immune-mediated-necrotizing-myopathy-due-to-statins-exposure
#4
Luisa Villa, Alberto Lerario, Sonia Calloni, Lorenzo Peverelli, Caterina Matinato, Federica DE Liso, Ferruccio Ceriotti, Roberto Tironi, Monica Sciacco, Maurizio Moggio, Fabio Triulzi, Claudia Cinnante
Statin-induced necrotizing autoimmune myopathy (IMNM) is an autoimmune disorder induced by anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase (anti-HMGCR) antibodies. We performed a retrospective clinical, histological, and radiological evaluation of 5 patients with a 3-year therapeutic follow-up. All patients used statins and then experienced proximal weakness that persisted after drug cessation. Muscle biopsies revealed a primary necrotizing myopathy without inflammatory infiltrates. All patients required immunomodulant combination therapy to achieve clinical remission...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30944903/metabolic-impairments-in-patients-with-myotonic-dystrophy-type-2
#5
Milorad Vujnic, Stojan Peric, Zeljka Calic, Natasa Benovic, Tanja Nisic, Jovan Pesovic, Dusanka Savic-Pavicevic, Vidosava Rakocevic-Stojanovic
Objectives: metabolic syndrome (MetS) increases risk of cardiovascular diseases and diabetes mellitus type 2. Aim of this study was to investigate frequency and features of MetS in a large cohort of patients with DM2. Materials & methods: this cross-sectional study included 47 DM2 patients. Patients were matched with 94 healthy controls (HCs) for gender and age. MetS was diagnosed according to the new worldwide consensus criteria from 2009. Results: mean age of DM2 patients was 52 ± 11 years, 15 (32%) were males, and mean disease duration was 15 ± 14 years...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30944902/the-role-of-rehabilitation-in-the-management-of-late-onset-pompe-disease-a-narrative-review-of-the-level-of-evidence
#6
Giovanni Iolascon, Michele Vitacca, Elena Carraro, Carmelo Chisari, Pietro Fiore, Sonia Messina, Tiziana Enrica Giovanna Mongini, Valeria A Sansone, Antonio Toscano, Gabriele Siciliano
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle dysfunction, and minor cardiac involvement. Although in LOPD, as in other neuromuscular diseases, controlled low impact sub-maximal aerobic exercise and functional ability exercise can improve general functioning and quality of life, as well as respiratory rehabilitation, the bulk of evidence on that is weak and guidelines are lacking. To date, there is no specific focus on rehabilitation issues in clinical recommendations for the care of patients with Pompe disease, and standard practice predominantly follows general recommendation guidelines for neuromuscular diseases...
December 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30838353/myotonic-dystrophy-type-1-and-pulmonary-embolism-successful-thrombus-resolution-with-dabigatran-etexilate-therapy
#7
Emanuele Gallinoro, Andrea Antonio Papa, Anna Rago, Simona Sperlongano, Antonio Cassese, Nadia Della Cioppa, Maria Cristina Giada Magliocca, Giovanni Cimmino, Paolo Golino
Myotonic dystrophy type 1 (DM1) is the most common form of adult muscular dystrophy. It is an autosomal dominant inherited disease with multisystemic involvement. Respiratory function is often affected and respiratory failure is the most common cause of death. Pulmonary embolism is a rare cause of respiratory failure in DM1 patients, so that the best anticoagulation strategy in these patients is still unclear. We describe the case of pulmonary embolism in a DM1 patient, in which pulmonary thrombus was completely resolved with oral dabigatran etexilate therapy...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30838352/lgmd1d-myopathy-with-cytoplasmic-and-nuclear-inclusions-in-a-saudi-family-due-to-dnajb6-mutation
#8
Saeed A Bohlega, Sarah Alfawaz, Hussam Abou-Al-Shaar, Hindi N Al-Hindi, Hatem N Murad, Mohamed S Bohlega, Brian F Meyer, Dorota Monies
Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD were analyzed and the causative underlying genes were studied utilizing genome wide linkage, homozygosity mapping, and neurological gene panel. We identified one family of a Bedouin origin with LGMD1D. Two patients had progressive proximal and distal weakness, dysphagia, and respiratory symptoms...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30838351/childhood-onset-limb-girdle-muscular-dystrophies-in-the-aegean-part-of-turkey
#9
Uluç Yiç, Gülden Diniz, Filiz Hazan, Hülya Sevcan Daimagüler, Bahar Toklu Baysal, Figen Baydan, Gülçin Akinci, Aycan Ünalp, Gül Aktan, Erhan Bayram, Semra Hiz, Cem Paketçi, Derya Okur, Erdener Özer, Ayça Ersen Danyeli, Muzaffer Polat, Gökhan Uyanik, Sebahattin Çirak
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30838350/prevalence-of-metabolic-syndrome-and-non-alcoholic-fatty-liver-disease-in-a-cohort-of-italian-patients-with-spinal-bulbar-muscular-atrophy
#10
Francesco Francini-Pesenti, Giorgia Querin, Cristina Martini, Sara Mareso, David Sacerdoti
Spinal-bulbar muscular atrophy (SBMA), is an X-linked motor neuron disease caused by a CAG-repeat expansion in the first exon of the androgen receptor gene (AR) on chromosome X. In SBMA, non-neural clinical phenotype includes disorders of glucose and lipid metabolism. We investigated the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non alcoholic fatty liver disease (NAFLD) in a group of SBMA patients. Forty-seven consecutive patients genetically diagnosed with SBMA underwent biochemical analyses...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30838349/kir2-2-p-thr140met-a-genetic-susceptibility-to-sporadic-periodic-paralysis
#11
Chunxiang Fan, Marius Kuhn, Alexander Pepler Mbiol, James Groome, Vern Winston, Saskia Biskup, Frank Lehmann-Horn, Karin Jurkat-Rott
Introduction: Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear. Methods: In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. We sequenced this gene in 263 unrelated PP patients without any known causative mutations. Then we performed functional analysis of all variants found and molecular modelling for interpretation...
September 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://read.qxmd.com/read/30057998/proceedings-of-the-xiii-congress-of-mediterranean-society-of-myology-avanos-turkey-june-27-29-2018
#12
(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://read.qxmd.com/read/30057997/long-term-history-of-a-congenital-core-rod-myopathy-with-compound-heterozygous-mutations-in-the-nebulin-gene
#13
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://read.qxmd.com/read/30057996/novel-mosaic-mutation-in-the-dystrophin-gene-causing-distal-asymmetric-muscle-weakness-of-the-upper-limbs-and-dilated-cardiomyopathy
#14
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://read.qxmd.com/read/30079400/proceedings-of-the-xviii-congress-of-the-italian-association-of-myology-genoa-italy-june-6-9-2018
#15
(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://read.qxmd.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
#16
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://read.qxmd.com/read/30079398/-sigmar1-gene-mutation-causing-distal-hereditary-motor-neuropathy-in-a-portuguese-family
#17
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://read.qxmd.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
#18
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://read.qxmd.com/read/29770365/is-the-epicardial-left-ventricular-lead-implantation-an-alternative-approach-to-percutaneous-attempt-in-patients-with-steinert-disease-a-case-report
#19
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://read.qxmd.com/read/29770364/three-new-cases-of-dilated-cardiomyopathy-caused-by-mutations-in-lmna-gene
#20
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
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