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https://www.readbyqxmd.com/read/28730908/electrical-stimulation-for-the-treatment-of-obstructive-sleep-apnoea-a-review-of-the-evidence
#1
Valeria Bisogni, Martino F Pengo, Andrea De Vito, Giuseppe Maiolino, Gian Paolo Rossi, John Moxham, Joerg Steier
Obstructi ve sleep apnoea is an increasingly prevalent clinical condition with significant impact on individuals and public health. Continuous positive airway pressure therapy is the standard treatment, but adherence is limited and alternative treatments are needed. In this context, non-invasive and invasive methods for the electrical stimulation of upper airway dilator muscles have been demonstrated to be effective in selected patients. Areas covered: This review will cover investigations on the clinical effects, safety, and tolerability of non-invasive and invasive electrical stimulation of the upper airway for the management of obstructive sleep apnoea...
July 21, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28728956/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd-a-multicentre-randomised-double-blind-placebo-controlled-phase-3-trial
#2
Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, Gary Elfring, Hans Kroger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Souza, Robert J Spiegel, Stuart W Peltz, Eugenio Mercuri
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America...
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28725596/utility-of-trigger-point-injection-as-an-adjunct-to-physical-therapy-in-men-with-chronic-prostatitis-chronic-pelvic-pain-syndrome
#3
Nicholas N Tadros, Anup B Shah, Daniel A Shoskes
BACKGROUND: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is often associated with pelvic floor muscle spasm. While pelvic floor physical therapy (PFPT) is effective, some men are unable to resolve their symptoms and have residual trigger points (TPs). TP injection has been used for treatment in several neuromuscular pain syndromes. The objective of this study was to examine the efficacy and side effects of TP injection in men with CP/CPPS and pelvic floor spasm refractory to PT...
June 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28724748/depressed-synaptic-transmission-and-reduced-vesicle-release-sites-in-huntington-s-disease-neuromuscular-junctions
#4
Ahmad Khedraki, Eric J Reed, Shannon H Romer, Qingbo Wang, William Romine, Mark M Rich, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) is a progressive and fatal degenerative disorder that results in debilitating cognitive and motor dysfunction. Most HD studies have focused on degeneration of the central nervous system. We previously discovered that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and potassium conductances. The progressive and early onset of these defects suggest a primary myopathy in HD. In this study, we examined the relationship between neuromuscular transmission and skeletal muscle hyperexcitability...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721951/recording-characteristics-of-electrical-impedance-myography-needle-electrodes
#5
Hyeuknam Kwon, Seward B Rutkove, Benjamin Sanchez
OBJECTIVE: The neurology and physiatry community need improved tools for the evaluation of skeletal muscle condition. Here, we evaluate needle electrical impedance myography (EIM), a new minimally invasive approach to determine muscle status that could ultimately become a bedside tool for the assessment of neuromuscular disorders. APPROACH: We design and study the recording characteristics of tetrapolar EIM needle electrodes combining theory and finite element model simulations...
July 19, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28711998/medical-history-of-chemotherapy-or-immunosuppressive-drug-treatment-and-risk-of-amyotrophic-lateral-sclerosis-als
#6
Thomas Kuczmarski, Elijah W Stommel, Kristen Riley, Rup Tandan, Vinay Chaudhry, Lora Clawson, Tracie A Caller, Patricia L Henegan, Dominic N Facciponte, Walter G Bradley, Angeline S Andrew
A recent population-based analysis demonstrated lower risk of the lethal degenerative neuromuscular disease, amyotrophic lateral sclerosis (ALS) associated with history of the use of 'antineoplastic agents' and 'immunosuppressants'. To see if this finding was generalizable to other ALS cohorts, we examined associations between use of these agents and ALS risk in an independent case-control study of n = 414 ALS patients and n = 361 controls in an Eastern US population. Controls were sampled from the general population and among non-neurodegenerative disease patients...
July 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28688959/from-gene-to-therapy-in-spinal-and-bulbar-muscular-atrophy-are-we-there-yet
#7
REVIEW
Maria Pennuto, Carlo Rinaldi
Abnormal polyglutamine expansions in the androgen receptor (AR) cause a muscular condition, known as Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). The disease is transmitted in an X-linked fashion and is clinically characterized by weakness, atrophy and fasciculations of the limb and bulbar muscles as a result of a toxic gain-of-function of the mutant protein. Notably, affected males also show signs of androgen insensitivity, such as gynaecomastia and reduced fertility. The characterization of the natural history of the disease, the increasing understanding of the mechanism of pathogenesis and the elucidation of the functions of normal and mutant AR have offered a momentum for developing a rational therapeutic strategy for this disease...
July 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28676062/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy-a-literature-review
#8
REVIEW
Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28674982/motoneuron-disease-clinical
#9
Hristelina Ilieva, Nicholas J Maragakis
ALS is a neurodegenerative disease in which the primary symptoms result in progressive neuromuscular weakness. Recent studies have highlighted that there is significant heterogeneity with regard to anatomical and temporal disease progression. Importantly, more recent advances in genetics have revealed new causative genes to the disease. New efforts have focused on the development of biomarkers that could aid in diagnosis, prognosis, and serve as pharmacodynamics markers. Although traditional pharmaceuticals continue to undergo trials for ALS, new therapeutic strategies including stem cell transplantation studies, gene therapies, and antisense therapies targeting some of the familial forms of ALS are gaining momentum...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28671186/transplantation-of-enteric-nervous-system-stem-cells-rescues-nitric-oxide-synthase-deficient-mouse-colon
#10
Conor J McCann, Julie E Cooper, Dipa Natarajan, Benjamin Jevans, Laura E Burnett, Alan J Burns, Nikhil Thapar
Enteric nervous system neuropathy causes a wide range of severe gut motility disorders. Cell replacement of lost neurons using enteric neural stem cells (ENSC) is a possible therapy for these life-limiting disorders. Here we show rescue of gut motility after ENSC transplantation in a mouse model of human enteric neuropathy, the neuronal nitric oxide synthase (nNOS(-/-)) deficient mouse model, which displays slow transit in the colon. We further show that transplantation of ENSC into the colon rescues impaired colonic motility with formation of extensive networks of transplanted cells, including the development of nNOS(+) neurons and subsequent restoration of nitrergic responses...
July 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28668906/a-current-approach-to-heart-failure-in-duchenne-muscular-dystrophy
#11
REVIEW
Domenico D'Amario, Antonio Amodeo, Rachele Adorisio, Francesco Danilo Tiziano, Antonio Maria Leone, Gianluigi Perri, Piergiorgio Bruno, Massimo Massetti, Alessandra Ferlini, Marika Pane, Giampaolo Niccoli, Italo Porto, Gianluca A D'Angelo, Josip Anđelo Borovac, Eugenio Mercuri, Filippo Crea
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence...
July 1, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28664851/clinical-trials-in-acute-respiratory-distress-syndrome-challenges-and-opportunities
#12
REVIEW
Michael A Matthay, Daniel F McAuley, Lorraine B Ware
This year is the 50th anniversary of the first description of acute respiratory distress syndrome (ARDS). Since then, much has been learned about the pathogenesis of lung injury in ARDS, with an emphasis on the mechanisms of injury to the lung endothelium and the alveolar epithelium. In terms of treatment, major progress has been made in reducing mortality from ARDS with lung-protective ventilation, using a tidal volume of 6 mL per kg of predicted bodyweight and a plateau airway pressure of less than 30 cm H2O...
June 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28664657/refractory-venous-leg-ulcers-observational-evaluation-of-innovative-new-technology
#13
Connie Harris, Amanda Loney, Jillian Brooke, Amanda Charlebois, Lucy Coppola, Sowmil Mehta, Norman Flett
This observational case series reports the evaluation of a novel neuromuscular electrical stimulation device (geko™) that stimulates the common peroneal nerve at the fibular head as an adjunctive therapy in patients with non-healing venous leg ulcers. The aim was to evaluate and determine if the geko™ device was effective in this population and should be added to the medical supply formulary. Patients whose wounds had failed to heal within 24 weeks of standard therapy were identified in two community settings in Ontario...
June 30, 2017: International Wound Journal
https://www.readbyqxmd.com/read/28663100/a-new-aav10-u7-mediated-gene-therapy-prolongs-survival-and-restores-function-in-an-als-mouse-model
#14
Maria Grazia Biferi, Mathilde Cohen-Tannoudji, Ambra Cappelletto, Benoit Giroux, Marianne Roda, Stéphanie Astord, Thibaut Marais, Corinne Bos, Thomas Voit, Arnaud Ferry, Martine Barkats
One of the most promising therapeutic approaches for familial amyotrophic lateral sclerosis linked to superoxide dismutase 1 (SOD1) is the suppression of toxic mutant SOD1 in the affected tissues. Here, we report an innovative molecular strategy for inducing substantial, widespread, and sustained reduction of mutant human SOD1 (hSOD1) levels throughout the body of SOD1(G93A) mice, leading to therapeutic effects in animals. Adeno-associated virus serotype rh10 vectors (AAV10) were used to mediate exon skipping of the hSOD1 pre-mRNA by expression of exon-2-targeted antisense sequences embedded in a modified U7 small-nuclear RNA (AAV10-U7-hSOD)...
June 26, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28661026/therapeutic-potentials-of-adenosine-receptors-agonists-and-antagonists-in-colitis-current-status-and-perspectives
#15
REVIEW
Amirhossein Bahreyni, Seyed Sattar Samani, Majid Khazaei, Mikhail Ryzhikov, Amir Avan, Seyed Mahdi Hassanian
Increasing evidence suggests that adenosine is dysregulated in ulcerative colitis (UC), potentially affecting UC pathogenesis, diagnosis, and therapy. Dysregulation of the activity of adenosine generating enzymes including adenosine deaminase in serum of patients with acute colitis supports the role of this omnipresent metabolite in the pathogenesis of colitis. Adenosine regulates inflammatory responses including epithelial barrier hyper-permeability, myeloperoxidase activity, and neuromuscular motility in colitis, supporting the therapeutic potency of adenosine receptors agonists and antagonists in this disease...
June 29, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28660165/the-incidence-of-hypotension-with-continuous-infusion-atracurium-compared-to-cisatracurium-in-the-intensive-care-unit
#16
Luke A VanderWeide, Mahmoud Abdel-Rasoul, Anthony Thomas Gerlach
BACKGROUND: A drug shortage of cisatracurium led to use of atracurium as an alternative neuromuscular blocker (NMB). Cisatracurium may be preferred due to less histamine release and potentially less hypotension. The study purpose is to compare the incidence of hypotension with continuous infusion atracurium to continuous infusion cisatracurium in ICU patients. MATERIALS AND METHODS: This retrospective cohort analysis reviewed 119 ICU patients who received either continuous infusion atracurium (56) or cisatracurium (63)...
April 2017: International Journal of Critical Illness and Injury Science
https://www.readbyqxmd.com/read/28658177/short-term-microcurrent-electrical-neuromuscular-stimulation-to-improve-muscle-function-in-the-elderly-a-randomized-double-blinded-sham-controlled-clinical-trial
#17
RANDOMIZED CONTROLLED TRIAL
Dong Rak Kwon, Jihoon Kim, Yongmin Kim, Sungho An, Jinmyoung Kwak, Sungjae Lee, Suyeon Park, Yoon Hee Choi, Yang Kyun Lee, Ji Woong Park
BACKGROUND: Microcurrent electrical neuromuscular stimulation (MENS) has been suggested to improve muscle function and restore damaged muscle. However, current evidence is insufficient to determine the effectiveness of this therapy in age-dependent muscle weakness. Therefore, a prospective, randomized, double-blinded, sham-controlled clinical trial was designed to evaluate the effects of short-term MENS on muscle function in the elderly. METHODS: A total of 38 healthy elderly participants aged 65 years and above were enrolled and randomly divided into 2 stimulation groups: real or sham MENS group...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28654505/avulsion-of-the-anterior-inferior-iliac-spine-rehabilitation-in-a-rural-private-practice
#18
Damon Burn
An unusual case is presented of an 11-year-old girl presenting for treatment to a semirural private physical therapy practice, not specializing in pediatric care, following an avulsion fracture of the anterior inferior iliac spine. The patient presented initially non-weight-bearing, with little hip movement due to pain. Following treatment, the patient returned to preinjury status including return to full participation in netball. A review of the literature regarding healing and rehabilitation is described...
July 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28654473/regenerative-rehabilitation-combining-stem-cell-therapies-and-activity-dependent-stimulation
#19
Chet T Moritz, Fabrisia Ambrosio
The number of clinical trials in regenerative medicine is burgeoning, and stem cell/tissue engineering technologies hold the possibility of becoming the standard of care for a multitude of diseases and injuries. Advances in regenerative biology reveal novel molecular and cellular targets, with potential to optimize tissue healing and functional recovery, thereby refining rehabilitation clinical practice. The purpose of this review is to (1) highlight the potential for synergy between the fields of regenerative medicine and rehabilitation, a convergence of disciplines known as regenerative rehabilitation; (2) provide translational examples of regenerative rehabilitation within the context of neuromuscular injuries and diseases; and (3) offer recommendations for ways to leverage activity dependence via combined therapy and technology, with the goal of enhancing long-term recovery...
July 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28654435/myasthenia-gravis-new-developments-in-research-and-treatment
#20
Amelia Evoli
PURPOSE OF REVIEW: Myasthenia gravis, a rare disorder of the neuromuscular transmission, is increasingly acknowledged as a syndrome more than as a single disease. This review summarizes recent advances in pathophysiology which confirm the disease heterogeneity, and may help find disease-targeted and patient-targeted therapies. RECENT FINDINGS: Antibodies to the acetylcholine receptor, the muscle-specific tyrosine kinase and the lipoprotein receptor protein 4, characterize disease subtypes with distinct clinical traits and immune-pathogenic mechanisms...
June 24, 2017: Current Opinion in Neurology
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