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neuromuscular disorders

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https://www.readbyqxmd.com/read/28933591/suppression-of-chrn-endocytosis-by-carbonic-anhydrase-car3-in-the-pathogenesis-of-myasthenia-gravis
#1
Ailian Du, Shiqian Huang, Xiaonan Zhao, Kuan Feng, Shuangyan Zhang, Jiefang Huang, Xiang Miao, Fulvio Baggi, Rennolds S Ostrom, Yanyun Zhang, Xiangjun Chen, Congfeng Xu
Myasthenia gravis is an autoimmune disorder of the neuromuscular junction manifested as fatigable muscle weakness, which is typically caused by pathogenic autoantibodies against postsynaptic CHRN/AChR (cholinergic receptor nicotinic) in the endplate of skeletal muscle. Our previous studies have identified CA3 (carbonic anhydrase 3) as a specific protein insufficient in skeletal muscle from myasthenia gravis patients. In this study, we investigated the underlying mechanism of how CA3 insufficiency might contribute to myasthenia gravis...
September 21, 2017: Autophagy
https://www.readbyqxmd.com/read/28933017/present-uses-future-applications-and-technical-underpinnings-of-electrical-impedance-myography
#2
REVIEW
Benjamin Sanchez, Seward B Rutkove
PURPOSE OF REVIEW: In this article, we provide an overview of electrical impedance myography (EIM), including its technical and theoretical basis, a summary of its varied applications, and ongoing developments. RECENT FINDINGS: EIM has been used as a disease severity biomarker in a variety of disorders affecting the muscle, ranging from amyotrophic lateral sclerosis (ALS) to muscular dystrophies to disuse atrophy due to the weightlessness of space. In ALS, studies have demonstrated that major reductions in sample size in clinical trials can be achieved...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28931767/musical-instrument-associated-health-issues-and-their-management
#3
Kae Okoshi, Taro Minami, Masahiro Kikuchi, Yasuko Tomizawa
Playing musical instruments can bring joy to people, but can also cause a wide variety of health issues that range from mild disorders to potentially fatal conditions. Although sports medicine is an established medical subspecialty, relatively few studies have investigated the health issues associated with musical instruments. Here we present an overview of these health issues. These include infections due to microorganisms, allergic reactions, as well as mechanical injuries from sustained high pressures within the oral, mediastinal, thoracic, and abdominal cavities...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28931439/effects-of-whole-body-vibration-exercise-on-neuromuscular-function-for-individuals-with-knee-osteoarthritis-study-protocol-for-a-randomized-controlled-trial
#4
Zhangqi Lai, Xueqiang Wang, Seullee Lee, Xihe Hou, Lin Wang
BACKGROUND: Knee osteoarthritis (KOA) is a leading cause of public disability. Neuromuscular function contributes to the development and/or progression of KOA. Whole body vibration (WBV) exercise improve the neuromuscular function of patients with neurological disorders and even that of older patients with limited exercise options. Therefore, WBV exercise may offer an efficient and alternative treatment for individuals with KOA. However, the effects of WBV training on the neuromuscular function of individuals with KOA remain unclear...
September 20, 2017: Trials
https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#5
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/28914735/palliative-care-in-neuromuscular-diseases
#6
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/28912273/neuroligin-4-regulates-synaptic-growth-via-the-bone-morphogenetic-protein-bmp-signaling-pathway-at-the-drosophila-neuromuscular-junction
#7
Xinwang Zhang, Menglong Rui, Guangmin Gan, Cong Huang, Jukang Yi, Huihui Lv, Wei Xie
The neuroligin (Nlg) family of neural cell adhesion molecules is thought to be required for synapse formation and development, and has been linked to the development of autism spectrum disorders in humans. In Drosophila melanogaster, mutations in the neuroligin 1-3 genes have been reported to induce synapse developmental defects at neuromuscular junctions (NMJs), but the role of neuroligin 4 (dnlg4) in synapse development has not been determined. Here, we report that the Drosophila neuroligin 4 (DNlg4) is different from DNlg1-3 that it presynaptically regulates NMJ synapse development...
September 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28904984/impact-of-diabetes-in-the-friedreich-ataxia-clinical-outcome-measures-study
#8
Ashley McCormick, Jennifer Farmer, Susan Perlman, Martin Delatycki, George Wilmot, Katherine Matthews, Grace Yoon, Chad Hoyle, Sub H Subramony, Theresa Zesiewicz, David R Lynch, Shana E McCormack
OBJECTIVE: Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene. FA is associated with increased risk of diabetes mellitus (DM). This study assessed the age-specific prevalence of FA-associated DM and its impact on neurologic outcomes. RESEARCH DESIGN AND METHODS: Participants were 811 individuals with FA from 12 international sites in a prospective natural history study (FA Clinical Outcome Measures Study, FACOMS)...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904628/tibial-derotational-osteotomies-in-two-neuromuscular-populations-comparing-cerebral-palsy-with-myelomeningocele
#9
R M Thompson, S Ihnow, L Dias, V Swaroop
PURPOSE: To review the outcomes of tibial derotational osteotomies (TDOs) as a function of complication and revision surgery rates comparing a cohort of children with myelodysplasia to a cohort with cerebral palsy (CP). METHODS: A chart review was completed on TDOs performed in a tertiary referral centre on patients with myelodysplasia or CP between 1985 and 2013 in patients aged > 5 years with > 2 years follow-up. Charts were reviewed for demographics, direction/degree of derotation, complications and need for re-derotation...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28902108/effects-of-two-different-self-adapted-occlusal-splints-on-electromyographic-and-force-parameters-during-elbow-flexors-isometric-contraction
#10
Eloisa Limonta, Chiara Arienti, Susanna Rampichini, Massimo Venturelli, Emiliano Cè, Arsenio Veicsteinas, Fabio Esposito
The study was aimed at determining the acute effects of two types of occlusal splints on maximum isometric strength and fatigue of the elbow flexors muscles. The hypothesis was that splint-induced masticatory muscle repositioning might improve primary muscles recruitment by stretching masticatory muscles especially with the thicker splint.On nine physically active volunteers with no temporo-mandibular joint and masticatory muscles disorders, we assessed maximum voluntary contraction (MVC) of the elbow flexors with diurnal (OSD, 1-mm thick) and sport (OSSP, 3-mm thick) splints, and without splint (control, Ctrl)...
September 6, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28899527/restless-legs-syndrome-is-highly-prevalent-in-patients-with-post-polio-syndrome
#11
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
#12
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/28898170/review-of-neuromuscular-disorders-treatment-and-management-by-tulio-e-bertorini
#13
Eli S Neiman, Abigail R Neiman, Joshua Reyna
No abstract text is available yet for this article.
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28895049/mutation-in-gne-downregulates-peroxiredoxin-iv-altering-er-redox-homeostasis
#14
Pratibha Chanana, Gayatri Padhy, Kalpana Bhargava, Ranjana Arya
GNE myopathy is a rare neuromuscular genetic disorder characterized by early adult onset and muscle weakness due to mutation in sialic acid biosynthetic enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). More than 180 different GNE mutations are known all over the world with unclear pathomechanism. Although hyposialylation of glycoproteins is speculated to be the major cause, but cellular mechanism leading to loss of muscle mass has not yet been deciphered. Besides sialic acid biosynthesis, GNE affects other cellular functions such as cell adhesion and apoptosis...
September 11, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#15
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/28892549/pediatric-obstructive-sleep-apnea-in-high-risk-populations-clinical-implications
#16
Mai El Mallah, Evan Bailey, Michelle Trivedi, Ted Kremer, Lawrence M Rhein
Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA in children born prematurely, and in those with Down syndrome, craniofacial disorders, and neuromuscular disorders. Primary care providers should have an increased index of suspicion for OSA in these children, considering the neurocognitive disability that occurs in these high-risk groups when OSA is left untreated...
September 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#17
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/28887062/diaphragm-dysfunction-in-critical-illness
#18
REVIEW
Gerald S Supinski, Peter E Morris, Sanjay Dhar, Leigh Ann Callahan
The diaphragm is the major muscle of inspiration and its function is critical for optimal respiration. Diaphragmatic failure has long been recognized as a major contributor to death in a variety of systemic neuromuscular disorders. More recently, it is increasingly apparent that diaphragm dysfunction is present in a high percentage of critically ill patients, and is associated with increased morbidity and mortality. In these patients, diaphragm weakness is thought to develop from disuse secondary to ventilator-induced diaphragm inactivity, and as a consequence of the effects of systemic inflammation, including sepsis...
September 5, 2017: Chest
https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#19
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/28885698/autoimmune-antibodies-to-collagen-xiii-in-myasthenia-gravis-patients
#20
Hongmin Tu, Ritva Pirskanen-Matell, Anne Heikkinen, Tuomo Oikarainen, Juha Risteli, Taina Pihlajaniemi
INTRODUCTION: Myasthenia Gravis (MG) is a neuromuscular junction (NMJ) disorder caused by autoantibodies against NMJ proteins. Collagen XIII is a muscle-derived transmembrane protein required for NMJ maturation. The objective of this study is to explore existence of autoantibodies to collagen XIII in MG patients. METHODS: Seventy MG patient sera and 61 human healthy controls were screened for collagen XIII autoantibodies by enzyme-linked immunosorbent assay (ELISA)...
September 8, 2017: Muscle & Nerve
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