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Neuromuscular disease

Jia-Ze Tan, Yuan Man, Fei Xiao
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS). METHODS: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out...
2016: Chinese Medical Journal
R J Willcocks, W T Triplett, S C Forbes, H Arora, C R Senesac, D J Lott, T R Nicholson, W D Rooney, G A Walter, K Vandenborne
There is a pressing need for biomarkers and outcomes that can be used across disease stages in Duchenne muscular dystrophy (DMD), to facilitate the inclusion of a wider range of participants in clinical trials and to improve our understanding of the natural history of DMD. Quantitative magnetic resonance imaging (qMRI) and spectroscopy (MRS) biomarkers show considerable promise in both the legs and forearms of individuals with DMD, but have not yet been examined in functionally important proximal upper extremity muscles such as the biceps brachii and deltoid...
October 24, 2016: Journal of Neurology
Richard Ac Hughes, Ruth Brassington, Angela A Gunn, Pieter A van Doorn
BACKGROUND: Guillain-Barré syndrome (GBS) is an acute paralysing disease caused by inflammation of the peripheral nerves, which corticosteroids would be expected to benefit. OBJECTIVES: To examine the ability of corticosteroids to hasten recovery and reduce the long-term morbidity from GBS. SEARCH METHODS: On 12 January 2016, we searched the Cochrane Neuromuscular Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase...
October 24, 2016: Cochrane Database of Systematic Reviews
Monika S Brill, Tatjana Kleele, Laura Ruschkies, Mengzhe Wang, Natalia A Marahori, Miriam S Reuter, Torben J Hausrat, Emily Weigand, Matthew Fisher, Andrea Ahles, Stefan Engelhardt, Derron L Bishop, Matthias Kneussel, Thomas Misgeld
Developmental axon remodeling is characterized by the selective removal of branches from axon arbors. The mechanisms that underlie such branch loss are largely unknown. Additionally, how neuronal resources are specifically assigned to the branches of remodeling arbors is not understood. Here we show that axon branch loss at the developing mouse neuromuscular junction is mediated by branch-specific microtubule severing, which results in local disassembly of the microtubule cytoskeleton and loss of axonal transport in branches that will subsequently dismantle...
October 18, 2016: Neuron
Axel Van Der Gucht, Mehdi Aoun Sebaiti, Eric Guedj, Jessie Aouizerate, Sabrina Yara, Romain Gherardi, Eva Evangelista, Julia Chalaye, Anne-Ségolène Cottereau, Antoine Verger, Anne-Catherine Bachoud-Levi, Emmanuel Itti, Francois Jerome Authier
PURPOSE: Macrophagic myofasciitis (MMF) is an emerging condition with specific muscle lesions characterized by an abnormal long-term persistence of aluminum hydroxide particles within macrophages at the site of previous immunization. Patients present with diffuse arthromyalgias, chronic fatigue, and cognitive dysfunction. The aim of this study was to characterize brain FDG-PET metabolic abnormalities in MMF patients, and the relation with cognitive dysfunction. METHODS: FDG-PET brain imaging and a comprehensive battery of neuropsychological tests were performed in 100 consecutive MMF patients (mean age, 45...
October 20, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Rajeev B Tajhya, Xueyou Hu, Mark R Tanner, Redwan Huq, Natee Kongchan, Joel R Neilson, George G Rodney, Frank T Horrigan, Lubov T Timchenko, Christine Beeton
Myoblasts are mononucleated precursors of myofibers; they persist in mature skeletal muscles for growth and regeneration post injury. During myotonic dystrophy type 1 (DM1), a complex autosomal-dominant neuromuscular disease, the differentiation of skeletal myoblasts into functional myotubes is impaired, resulting in muscle wasting and weakness. The mechanisms leading to this altered differentiation are not fully understood. Here, we demonstrate that the calcium- and voltage-dependent potassium channel, KCa1...
October 20, 2016: Cell Death & Disease
Erin B Chapman, Jena Hansen-Honeycutt, Alan Nasypany, Russell T Baker, Jim May
BACKGROUND: Appropriate assessment and interventions for breathing patterns prior to assessment of the patient's musculoskeletal complaint may be beneficial. Breathing pattern disorders (BPDs) are remediable and influenced by biochemical, biomechanical, psychological, and/or unknown factors. The purpose of this clinical commentary is to demonstrate the integratration of a BPD assessment into a standard clinical musculoskeletal orthopedic examination. CLINICAL ASSESSMENT: The observation of a patient's breathing pattern begins when they enter the clinic, is followed by palpation and orthopedic tests, which allows for proper classification of BPDs...
October 2016: International Journal of Sports Physical Therapy
Evan M Pucillo, Nancy Christensen-Mayer, Shelly D Poole, Denise M Whitten, Danielle Freeman, Blake R Bohe, Brandon R Swensen, A Gordon Smith, Nicholas E Johnson
BACKGROUND: Team-based care has been shown to offer more comprehensive benefits to patients when compared to standard physician-based care alone in clinics for chronic conditions. However, apart from grant-funded multidisciplinary clinics, there are no reports on the usage of same-day physical therapy (PT) consults within a daily outpatient neuromuscular disease (NMD) physician clinic. OBJECTIVE: To determine the impact of same-day PT consults at the University of Utah's outpatient Clinical Neurosciences Center...
2016: Journal of Multidisciplinary Healthcare
Sarah Jones, William D-C Man, Wei Gao, Irene J Higginson, Andrew Wilcock, Matthew Maddocks
BACKGROUND: This review is an update of a previously published review in the Cochrane Database of Systematic Reviews Issue 1, 2013 on Neuromuscular electrical stimulation for muscle weakness in adults with advanced disease.Patients with advanced progressive disease often experience muscle weakness, which can impact adversely on their ability to be independent and their quality of life. In those patients who are unable or unwilling to undertake whole-body exercise, neuromuscular electrical stimulation (NMES) may be an alternative treatment to enhance lower limb muscle strength...
October 17, 2016: Cochrane Database of Systematic Reviews
Yi-Chia Su, Chih-Chien Wu
A 54-year-old woman presented at the emergency department after experiencing lower limb weakness and bilateral ankle pain for 2 days. She had a history of type 2 diabetes mellitus, diabetes mellitus nephropathy with chronic kidney disease, and chronic gouty arthritis. She had received 0.6 mg colchicine orally once or twice daily for 8 months. Four days prior to her emergency department visit, she was discharged from our nephrology ward, where she had been admitted because of a urinary tract infection. During hospitalization, she was treated with intravenous cefazolin for 7 days...
December 2015: Drug Saf Case Rep
Luca Bello, Kevin M Flanigan, Robert B Weiss, Pietro Spitali, Annemieke Aartsma-Rus, Francesco Muntoni, Irina Zaharieva, Alessandra Ferlini, Eugenio Mercuri, Sylvie Tuffery-Giraud, Mireille Claustres, Volker Straub, Hanns Lochmüller, Andrea Barp, Sara Vianello, Elena Pegoraro, Jaya Punetha, Heather Gordish-Dressman, Mamta Giri, Craig M McDonald, Eric P Hoffman
The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers...
October 12, 2016: American Journal of Human Genetics
P Gouda, J Chua, D Langan, T Hannon, A Scott, A O'Regan
BACKGROUND: While domiciliary non-invasive ventilation (NIV) was initially used in the treatment of respiratory failure resulting from chest wall deformity, the main indication is now chronic obstructive pulmonary disease (COPD) with recurrent exacerbations associated with type 2 respiratory failure. A longitudinal study of domiciliary NIV provides insights into the evolution of this treatment in the west of Ireland. METHODS: The cohort of patients receiving new prescriptions for domiciliary NIV from Galway University Hospital from 2000 to 2012 was reviewed using study coordinator chart reviews and telephone follow-ups...
October 15, 2016: Irish Journal of Medical Science
Roxanna M Bendixen, Amy Houtrow
PURPOSE: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. METHODS: Through personal interviews, this study qualitatively explored parents' experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed. RESULTS: Four themes emerged: (a) Dismissive illustrates little consideration of parent concern in the diagnostic process; (b) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings, and testing to achieve a diagnosis of DMD; (c) Careless Delivery reports on the manner in which the diagnosis was given; and (d) Lack of Guidance describes the follow-up that occurred after the diagnosis...
October 12, 2016: Journal of Pediatric Health Care
Renata Spósito Roxo, Vivian Bertoni Xavier, Luiz Antônio Miorin, Andrea Olivares Magalhães, Yvoty Alves Dos Santos Sens, Vera Lúcia Dos Santos Alves
Introduction: Literature shows that patients undergoing hemodialysis present poor physical conditioning and low tolerance to exercise. They may also suffer from respiratory dysfunctions. The purpose of this study was to evaluate the effects of neuromuscular electrical stimulation on pulmonary function and functional capacity of patients with chronic kidney disease on hemodialysis. Methods: Forty adult patients with chronic kidney disease on hemodialysis were prospectively studied and randomized into two groups (control n = 20 and treatment n = 20)...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Łukasz J Sznajder, Michał Michalak, Katarzyna Taylor, Piotr Cywoniuk, Michał Kabza, Agnieszka Wojtkowiak-Szlachcic, Magdalena Matłoka, Patryk Konieczny, Krzysztof Sobczak
Muscleblind-like (MBNL) proteins are critical RNA processing factors in development. MBNL activity is disrupted in the neuromuscular disease myotonic dystrophy type 1 (DM1), due to the instability of a non-coding microsatellite in the DMPK gene and the expression of CUG expansion (CUG(exp)) RNAs. Pathogenic interactions between MBNL and CUG(exp) RNA lead to the formation of nuclear complexes termed foci and prevent MBNL function in pre-mRNA processing. The existence of multiple MBNL genes, as well as multiple protein isoforms, raises the question of whether different MBNL proteins possess unique or redundant functions...
October 12, 2016: Nucleic Acids Research
Evandro Fei Fang, Henok Kassahun, Deborah L Croteau, Morten Scheibye-Knudsen, Krisztina Marosi, Huiming Lu, Raghavendra A Shamanna, Sumana Kalyanasundaram, Ravi Chand Bollineni, Mark A Wilson, Wendy B Iser, Bradley N Wollman, Marya Morevati, Jun Li, Jesse S Kerr, Qiping Lu, Tyler B Waltz, Jane Tian, David A Sinclair, Mark P Mattson, Hilde Nilsen, Vilhelm A Bohr
Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive neurodegeneration and cerebellar ataxia. A-T is causally linked to defects in ATM, a master regulator of the response to and repair of DNA double-strand breaks. The molecular basis of cerebellar atrophy and neurodegeneration in A-T patients is unclear. Here we report and examine the significance of increased PARylation, low NAD(+), and mitochondrial dysfunction in ATM-deficient neurons, mice, and worms. Treatments that replenish intracellular NAD(+) reduce the severity of A-T neuropathology, normalize neuromuscular function, delay memory loss, and extend lifespan in both animal models...
October 11, 2016: Cell Metabolism
Eun Ji Ahn, Mi Sun Yum, Eun Hee Kim, Han Wook Yoo, Beom Hee Lee, Gu Hwan Kim, Tae Sung Ko
BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients. METHODS: Thirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively...
October 7, 2016: Journal of Clinical Neurology
Jaydeep M Bhatt
Neuromuscular disorders as a group are linked by anatomy with significant differences in pathogenetic mechanisms, clinical expression, and time course of disease. Each neuromuscular disease is relatively uncommon, yet causes a significant burden of disease socioeconomically. Epidemiologic studies in different global regions have demonstrated certain neuromuscular diseases have increased incidence and prevalence rates over time. Understanding differences in global epidemiologic trends will aid clinical research and policies focused on prevention of disease...
November 2016: Neurologic Clinics
Karen Haberland, Mehmet Uygur
Both hand function [as seen through the coordination between grip force (GF) and load force (LF)] and the ability to produce a submaximal force quickly (i.e., neuromuscular quickness) are two important qualities of motor function that could be seriously affected by the presence of neurological diseases. Therefore, their quantitative assessment is very important in clinical settings. Within this study, we aimed to develop, standardize, and measure the within-session reliability of a clinically meaningful test that assesses both hand function and neuromuscular quickness simultaneously...
October 7, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Giovanni Nardo, Maria Chiara Trolese, Giuseppe de Vito, Roberta Cecchi, Nilo Riva, Giorgia Dina, Paul R Heath, Angelo Quattrini, Pamela J Shaw, Vincenzo Piazza, Caterina Bendotti
BACKGROUND: Increasing evidence suggests that the immune system has a beneficial role in the progression of amyotrophic lateral sclerosis (ALS) although the mechanism remains unclear. Recently, we demonstrated that motor neurons (MNs) of C57SOD1(G93A) mice with slow disease progression activate molecules classically involved in the cross-talk with the immune system. This happens a lot less in 129SvSOD1(G93A) mice which, while expressing the same amount of transgene, had faster disease progression and earlier axonal damage...
October 7, 2016: Journal of Neuroinflammation
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