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Neuromuscular diseases

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https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#1
Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, Cyrille Vaillend, Christian Leumann, Luis Garcia, Aurélie Goyenvalle
Antisense oligonucleotides (AONs) hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#2
Jamie Roper, M Emily Fleming, Brit Long, Alex Koyfman
BACKGROUND: Myasthenia gravis (MG) is an uncommon autoimmune disorder affecting the neuromuscular junction and manifesting as muscle weakness. A multitude of stressors can exacerbate MG. When symptoms are exacerbated, muscle weakness can be severe enough to result in respiratory failure, a condition known as myasthenic crisis (MC). OBJECTIVE: This review discusses risk factors, diagnosis, management, and iatrogenic avoidance of MC. DISCUSSION: MC can affect any age, ethnicity, or sex and can be precipitated with any stressor, infection being the most common...
September 12, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28915407/differentiation-and-sarcomere-formation-in-skeletal-myocytes-directly-prepared-from-human-induced-pluripotent-stem-cells-using-a-sphere-based-culture
#3
Saowanee Jiwlawat, Eileen Lynch, Jennifer Glaser, Ivy Smit-Oistad, Jeremy Jeffrey, Jonathan M Van Dyke, Masatoshi Suzuki
Human induced-pluripotent stem cells (iPSCs) are a promising resource for propagation of myogenic progenitors. Our group recently reported a unique protocol for the derivation of myogenic progenitors directly (without genetic modification) from human pluripotent cells using free-floating spherical culture. Here we expand our previous efforts and attempt to determine how differentiation duration, culture surface coatings, and nutrient supplements in the medium influence progenitor differentiation and formation of skeletal myotubes containing sarcomeric structures...
August 1, 2017: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#4
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28910910/-respiratory-function-measurement-and-noninvasive-ventilation-therapy-for-neuromuscular-diseases
#5
Y Wang, Y M Luo
No abstract text is available yet for this article.
September 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28910906/-noninvasive-ventilation-in-neuromuscular-diseases-respiratory-support-and-airway-management
#6
L P Wang
No abstract text is available yet for this article.
September 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28904095/distinct-roles-for-motor-neuron-autophagy-early-and-late-in-the-sod1-g93a-mouse-model-of-als
#7
Noam D Rudnick, Christopher J Griffey, Paolo Guarnieri, Valeria Gerbino, Xueyong Wang, Jason A Piersaint, Juan Carlos Tapia, Mark M Rich, Tom Maniatis
Mutations in autophagy genes can cause familial and sporadic amyotrophic lateral sclerosis (ALS). However, the role of autophagy in ALS pathogenesis is poorly understood, in part due to the lack of cell type-specific manipulations of this pathway in animal models. Using a mouse model of ALS expressing mutant superoxide dismutase 1 (SOD1(G93A)), we show that motor neurons form large autophagosomes containing ubiquitinated aggregates early in disease progression. To investigate whether this response is protective or detrimental, we generated mice in which the critical autophagy gene Atg7 was specifically disrupted in motor neurons (Atg7 cKO)...
September 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28903474/nitric-oxide-heat-shock-protein-axis-in-menopausal-hot-flushes-neglected-metabolic-issues-of-chronic-inflammatory-diseases-associated-with-deranged-heat-shock-response
#8
Antônio Azambuja Miragem, Paulo Ivo Homem de Bittencourt
BACKGROUND: Although some unequivocal underlying mechanisms of menopausal hot flushes have been demonstrated in animal models, the paucity of similar approaches in humans impedes further mechanistic outcomes. Human studies might show some as yet unexpected physiological mechanisms of metabolic adaptation that permeate the phase of decreased oestrogen levels in both symptomatic and asymptomatic women. This is particularly relevant because both the severity and time span of hot flushes are associated with increased risk of chronic inflammatory disease...
September 1, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28899527/restless-legs-syndrome-is-highly-prevalent-in-patients-with-post-polio-syndrome
#9
Luis Fabiano Marin, Luciane B C Carvalho, Lucila B F Prado, Acary S B Oliveira, Gilmar F Prado
OBJECTIVE: Few studies have quantified the prevalence of restless legs syndrome (RLS) in patients with post-polio syndrome (PPS). Our objective was to assess the prevalence and severity of RLS in patients with PPS and to examine the demographic characteristics of this population. METHOD: This was a cross-sectional study conducted from April 2010 to May 2012 at the outpatient Neuromuscular Disorders clinic of Universidade Federal de São Paulo, São Paulo, Brazil...
September 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28898540/compound-heterozygous-trpv4-mutations-in-two-siblings-with-a-complex-phenotype-including-severe-intellectual-disability-and-neuropathy
#10
My Linh Thibodeau, Colin H Peters, Katelin N Townsend, Yaoqing Shen, Glenda Hendson, Shelin Adam, Kathryn Selby, Patrick M Macleod, Cynthia Gershome, Peter Ruben, Steven J M Jones, Jan M Friedman, William T Gibson, Gabriella A Horvath
TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype including severe neuromuscular involvement. In light of previously well described dominant inheritance for TRPV4-related neuromuscular disease, our study suggests a role for compound heterozygosity and loss-of-function as a potential novel disease mechanism for this group of disorders...
September 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#11
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28893450/emergency-medicine-evaluation-and-management-of-the-end-stage-renal-disease-patient
#12
REVIEW
Brit Long, Alex Koyfman, Courtney M Lee
BACKGROUND: End stage renal disease (ESRD) is increasing in the U.S., and these patients demonstrate greater all-cause mortality, cardiovascular events, and hospitalization rates when compared to those with normal renal function. These patients may experience significant complications associated with loss of renal function and dialysis. OBJECTIVE: This review evaluates complications of ESRD including cardiopulmonary, neurologic, infectious disease, vascular, and access site complications, as well as medication use in this population...
September 5, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28892511/the-equilibrium-between-antagonistic-signaling-pathways-determines-the-number-of-synapses-in-drosophila
#13
Sheila Jordán-Álvarez, Elena Santana, Sergio Casas-Tintó, Ángel Acebes, Alberto Ferrús
The number of synapses is a major determinant of behavior and many neural diseases exhibit deviations in that number. However, how signaling pathways control this number is still poorly understood. Using the Drosophila larval neuromuscular junction, we show here a PI3K-dependent pathway for synaptogenesis which is functionally connected with other previously known elements including the Wit receptor, its ligand Gbb, and the MAPkinases cascade. Based on epistasis assays, we determined the functional hierarchy within the pathway...
2017: PloS One
https://www.readbyqxmd.com/read/28890289/the-myotonic-dystrophy-health-index-italian-validation-of-a-disease-specific-outcome-measure
#14
Valeria A Sansone, Andrea Lizio, Lucia Greco, Gaia Gragnano, Alice Zanolini, Marco Gualandris, Marino Iatomasi, Chad Heatwole
The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, self-reported outcome measure that assesses total disease burden and 17 areas of Myotonic Dystrophy type 1 (DM1) specific health. This study translated the MDHI into Italian and validated the instrument using a cohort of Italian DM1 patients. Italian DM1 patients were interviewed regarding the form and content of the instrument. Thirty-eight DM1 patients were subsequently recruited to test the reliability and concurrent validity of the instrument by serially completing the MDHI and a battery of clinical tests...
July 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28889846/acupuncture-for-management-of-type-2-diabetes-mellitus-in-a-patient-with-myasthenia-gravis-a-case-report
#15
Yun Jin Kim
Myasthenia gravis (MG) is an acquired disease of the neuromuscular junctions characterized by muscular weakness and fatigue, with a prevalence of 50-125 cases per million population in western countries. In men, it usually appears after the age of 60 years, while in women, it usually appears before the age of 40 years. Long-term immunosuppression with corticosteroids is the mainstay treatment for patients with MG; however, the use of corticosteroids is a well-documented risk factor for type 2 diabetes mellitus, which has also been reported in steroid-treated patients with MG...
August 2017: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#16
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28889091/mri-in-sarcoglycanopathies-a-large-international-cohort-study
#17
Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D'Amico, Fabiana Fattori, Anna Pichiecchio, Angela Berardinelli, Lorenzo Maggi, Elio Maccagnano, Nicoline Løkken, Chiara Marini-Bettolo, Francina Munell, Angel Sanchez, Nahla Alshaikh, Nicol C Voermans, Jahannaz Dastgir, Dmitry Vlodavets, Jana Haberlová, Gianmichele Magnano, Maggie C Walter, Susana Quijano-Roy, Robert-Yves Carlier, Baziel G M van Engelen, John Vissing, Volker Straub, Carsten G Bönnemann, Eugenio Mercuri, Francesco Muntoni, Elena Pegoraro, Enrico Bertini, Bjarne Udd, Enzo Ricci, Claudio Bruno
OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#18
V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong
Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28885365/therapeutic-efficacy-of-neuromuscular-electrical-stimulation-and-electromyographic-biofeedback-on-alzheimer-s-disease-patients-with-dysphagia
#19
Yi Tang, Xiang Lin, Xiao-Juan Lin, Wei Zheng, Zhi-Kai Zheng, Zhao-Min Lin, Jian-Hao Chen
To study the therapeutic effect of neuromuscular electrical stimulation and electromyographic biofeedback (EMG-biofeedback) therapy in improving swallowing function of Alzheimer's disease patients with dysphagia.A series of 103 Alzheimer's disease patients with dysphagia were divided into 2 groups, among which the control group (n = 50) received swallowing function training and the treatment group (n = 53) received neuromuscular electrical stimulation plus EMG-biofeedback therapy. The mini-mental state scale score was performed in all patients along the treatment period...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28884620/nusinersen-for-the-treatment-of-spinal-muscular-atrophy
#20
Claudia A Chiriboga
Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness. This review article focuses on a novel antisense oligonucleotide treatment, first ever approved for SMA (nusinersen, Spinraza(TM)) and describes the exciting journey from early ASO clinical trials to regulatory approval of the first ever known effective treatment for SMA. Areas covered: This article reviews the results of the published open label nusinersen studies in infants and children, and briefly covers the preliminary findings of the recently completed but as yet unpublished nusinersen-sham controlled trials, as well as the presymptomatic nusinersen trial known as Nurture...
September 8, 2017: Expert Review of Neurotherapeutics
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