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Journal of Neuromuscular Diseases

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https://www.readbyqxmd.com/read/29278900/longitudinal-diffusion-weighted-whole-body-mri-demonstrates-dynamic-changes-in-muscle-integrity-in-motor-neuron-disease
#1
I A Pierry, Jjp Alix, D G Rao, N Hoggard, J Bigley, C J McDermott, I D Wilkinson, P J Shaw, T M Jenkins
No abstract text is available yet for this article.
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278899/the-utility-of-the-laboratory-work-up-at-the-time-of-diagnosis-of-amyotrophic-lateral-sclerosis
#2
Ario Mirian, Lawrence Korngut
BACKGROUND: Serological testing is routinely performed in the work up for a diagnosis of Amyotrophic Lateral Sclerosis (ALS) to exclude pathologies with similar clinical phenotypes. OBJECTIVE: To determine the proportion of serological workup that changes the primary diagnosis and/or clinical management for patients presenting with signs of ALS. METHODS: A retrospective chart review was conducted on patients from the Calgary Neuromuscular Intake Clinic in which the neurologist working diagnosis post-assessment is ALS...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278898/diaphragm-pathophysiology-and-ultrasound-imaging-in-neuromuscular-disorders
#3
Abdallah Fayssoil, Anthony Behin, Adam Ogna, Dominique Mompoint, Helge Amthor, Bernard Clair, Pascal Laforet, Arnaud Mansart, Helene Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, Bruno Eymard, Frederic Lofaso, Djillali Annane
Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278897/reliability-of-the-apathy-evaluation-scale-in-myotonic-dystrophy-type-1
#4
Benjamin Gallais
BACKGROUND: Apathy is a common debilitating symptom of myotonic dystrophy type 1 (DM1). The Apathy Evaluation Scale (AES) has been identified as a promising measurement instrument to be used in DM1 but its metrological properties must be further documented. OBJECTIVE: To determine the internal consistency of the Self (AES-S), Informant (AES-I), and Clinician (AES-C) versions of the AES and to assess the test-retest reliability, standard error of measurement, and minimal detectable change of the AES-S and AES-I in a sample of DM1 patients and their related informants...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278896/long-term-pulmonary-function-in-duchenne-muscular-dystrophy-comparison-of-eteplirsen-treated-patients-to-natural-history
#5
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278895/aberrant-caspase-activation-in-laminin-%C3%AE-2-deficient-human-myogenic-cells-is-mediated-by-p53-and-sirtuin-activity
#6
Soonsang Yoon, Mary Lou Beermann, Bryant Yu, Di Shao, Markus Bachschmid, Jeffrey Boone Miller
BACKGROUND: Mutations in the LAMA2 gene encoding laminin-α2 cause congenital muscular dystrophy Type 1A (MDC1A), a severe recessive disease with no effective treatment. Previous studies have shown that aberrant activation of caspases and cell death through a pathway regulated by BAX and KU70 is a significant contributor to pathogenesis in laminin-α2-deficiency. OBJECTIVES: To identify mechanisms of pathogenesis in MDC1A. METHODS: We used immunocytochemical and molecular studies of human myogenic cells and mouse muscles-comparing laminin-α2-deficient vs...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29278894/asymmetric-ataxia-depression-memory-loss-epilepsy-and-axonal-neuropathy-associated-with-a-heterozygous-dna-polymerase-gamma-variant-of-uncertain-significance-c1370g-a-r457q
#7
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Mutations in the gene encoding DNA polymerase gamma (POLG) impair its ability to proofread mitochondrial DNA (mtDNA) during replication [1]. This results in a high frequency of randomly distributed mtDNA mutations and thus a wide range of phenotypes, including seizures, neuropathy, and cerebellar ataxia [1, 2]. We document a phenotype associated with the rare POLG variant c.1370G>A (p.R457Q). METHODS: Over 10 years, we performed electrodiagnostic and neuropsychologic on a patient who presented with a variety of neurologic symptoms...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#8
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#9
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29103046/expanding-the-clinical-spectrum-of%C3%A2-iglon5-syndrome
#10
Stephan Wenninger
No abstract text is available yet for this article.
October 30, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29103045/dominant-centronuclear-myopathy-with-early-childhood-onset-due-to-a-novel-mutation-in-bin1
#11
Carlyn Kouwenberg, Johann Bohm, Corrie Erasmus, Irene van Balken, Sandra Vos, Benno Kusters, Erik-Jan Kamsteeg, Valerie Biancalana, Catherine Koch, Nicolas Dondaine, Jocelyn Laporte, Nicol Voermans
Autosomal dominant Centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 (BIN1) typically presents in adulthood with progressive muscle weakness. We report a Dutch family with AD CNM due to a novel BIN1mutation (c.53T>A (p.Val18Glu)), strongly impairing the membrane tubulation activity of amphiphysin-2. The main features were mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass, with a childhood onset in the youngest generation and mild cognitive features...
October 30, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29081423/muscular-dystrophy-with-ribitol-phosphate-deficiency-a-novel-post-translational-mechanism-in-dystroglycanopathy
#12
Motoi Kanagawa, Tatsushi Toda
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins...
October 24, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29036836/a-panel-of-slow-channel-congenital-myasthenic-syndrome-mice-reveals-a-unique-locomotor-behavioral-signature
#13
José G Grajales-Reyes, Aurian García-González, José C María-Ríos, Gary E Grajales-Reyes, Manuel Delgado-Vélez, Carlos A Báez-Pagán, Orestes Quesada, Christopher M Gómez, José A Lasalde-Dominicci
Muscle nicotinic acetylcholine receptor (nAChR) mutations can lead to altered channel kinetics and neuromuscular junction degeneration, a neurodegenerative disorder collectively known as slow-channel congenital myasthenic syndrome (SCCMS). A multivariate analysis using running wheels was used to generate activity profiles for a variety of SCCMS models, uncovering unique locomotor patterns for the different nAChR mutants. Particularly, the αL251T and ɛL269F mutations exhibit decreased event distance, duration, and velocity over a period of 24 hours...
October 13, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28984614/progression-of-duchenne-cardiomyopathy-presenting-with-chest-pain-and-troponin-elevation
#14
Kan N Hor, Pace Johnston, Kathi Kinnett, May Ling Mah, Corey Stiver, Larry Markham, Linda Cripe
BACKGROUND: Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients. RESULTS: We describe eight boys with DMD evaluated for acute chest pain (ACP) and found to have acute cTn elevation with depressed left ventricular ejection fraction (LVEF)...
October 5, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28598854/analysis-of-azithromycin-monohydrate-as-a-single-or-a-combinatorial-therapy-in-a-mouse-model-of-severe-spinal-muscular-atrophy
#15
Erkan Y Osman, Charles W Washington, Madeline E Simon, Dalia Megiddo, Hagar Greif, Christian L Lorson
BACKGROUND: Spinal muscular atrophy (SMA) is a neurodegenerative autosomal recessive disorder characterized by the loss of α-motor neurons. A variety of molecular pathways are being investigated to elevate SMN protein expression in SMA models and in the clinic. One of these approaches involves stabilizing the SMNΔ7 protein by inducing translational read-through. Previous studies have demonstrated that functionality and stability are partially restored to the otherwise unstable SMNΔ7 by the addition of non-specific C-terminal peptide sequences, or by inducing a similar molecular event through the use of read-through inducing compounds such as aminoglycosides...
June 9, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28598855/risk-for-complications-after-pacemaker-or-cardioverter-defibrillator-implantations-in-patients-with-myotonic-dystrophy-type-1
#16
Maximilien Sochala, Karim Wahbi, Emmanuel Sorbets, Arnaud Lazarus, Henri-Marc Bécane, Tanya Stojkovic, Abdallah Fayssoil, Pascal Laforêt, Anthony Béhin, Marjorie Sroussi, Bruno Eymard, Denis Duboc, Christophe Meune
BACKGROUND: Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1), however the risk of complications after the placement of these devices is unknown. OBJECTIVE: To compare the rate of device-related complications between PM and ICD implantations in patients with DM1. METHODS: Among 914 patients with DM1 included in the DM1 Heart Registry between January 2000 and January 2010, we retrospectively selected 23 patients who were implanted with an ICD and matched them to 46 controls with a PM on age, gender, and year of device placement...
June 6, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29172006/two-cases-of-spinal-muscular-atrophy-type-ii-with-eosinophilic-oesophagitis
#17
Heidi R Fuller, Hannah K Shorrock, Thomas H Gillingwater, Anna Pigott, Victoria Smith, Richa Kulshrestha, Caroline S Sewry, Tracey A Willis
Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29172005/cytokine-profiling-of-serum-allows-monitoring-of-disease-progression-in-inclusion-body-myositis
#18
Umesh A Badrising, Roula Tsonaka, Monika Hiller, Erik H Niks, Teresinha Evangelista, Hanns Lochmüller, Jan Jgm Verschuuren, Annemieke Aartsma-Rus, Pietro Spitali
BACKGROUND: Inclusion body myositis is a late onset inflammatory myopathy lacking reliable serum biomarkers for diagnosis and for disease progression. OBJECTIVE: To identify diagnostic and predictive biomarkers, cytokine profiling is used to assess the potential of cytokines to discriminate between cases and controls and to assess whether treatment with methotrexate can influence biomarkers associated with disease progression. METHODS: The diagnostic and follow-up potential of 48 cytokines was tested using Bioplex-assay and ELISA in sera of healthy individuals, IBM patients and patients with other neuromuscular disorders...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29172004/early-onset-myopathies-clinical-findings-prevalence-of-subgroups-and-diagnostic-approach-in-a-single-neuromuscular-referral-center-in-germany
#19
K Vill, A Blaschek, D Gläser, M Kuhn, T Haack, B Alhaddad, M Wagner, R Kovacs-Nagy, M Tacke, L Gerstl, A S Schroeder, I Borggraefe, C Mueller, B Schlotter-Weigel, B Schoser, M C Walter, W Müller-Felber
BACKGROUND: Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic and histopathological overlap. The diagnostic approach has considerably changed since high throughput genetic methods (next generation sequencing, NGS) became available. OBJECTIVE: We present diagnostic subgroups in a single neuromuscular referral center and describe an algorithm for the diagnostic work-up. METHODS: The diagnostic approach of 98 index patients was retrospectively analysed...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125504/clinical-outcomes-in-duchenne-muscular-dystrophy-a-study-of-5345-patients-from-the-treat-nmd-dmd-global-database
#20
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria E Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Matthew I Bellgard, Anna J Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Andrea Klein, Jordi Díaz-Manera, Eduard Gallardo, A Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly L Peay, Jan Kirschner, Kevin M Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J Verschuuren, Hanns Lochmüller
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients...
2017: Journal of Neuromuscular Diseases
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