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neuromuscular disorder

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https://www.readbyqxmd.com/read/28432750/effect-of-feeding-two-rrr-alpha-tocopherol-formulations-on-serum-cerebrospinal-fluid-and-muscle-alpha-tocopherol-concentrations-in-horses-with-subclinical-vitamin-e-deficiency
#1
J C Brown, S J Valberg, M Hogg, C J Finno
BACKGROUND: Alpha tocopherol (α-TP) supplementation is recommended for the prevention of various equine neuromuscular disorders. Formulations available include RRR-α-TP acetate powder and a more expensive but rapidly water-dispersible liquid RRR-α-TP (WD α-TP). A cost-effective means to rapidly increase serum and CSF α-TP with WD-α-TP and then sustain concentrations with RRR-α-TP acetate has not been reported. OBJECTIVES: To evaluate serum, CSF and muscle α-TP concentrations in an 8-week dosing regimen where horses were transitioned from WD RRR-α-TP to RRR-α-TP acetate...
April 22, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28428630/hinge-deleted-igg4-blocker-therapy-for-acetylcholine-receptor-myasthenia-gravis-in-rhesus-monkeys
#2
Mario Losen, Aran F Labrijn, Vivianne H van Kranen-Mastenbroek, Maarten L Janmaat, Krista G Haanstra, Frank J Beurskens, Tom Vink, Margreet Jonker, Bert A 't Hart, Marina Mané-Damas, Peter C Molenaar, Pilar Martinez-Martinez, Eline van der Esch, Janine Schuurman, Marc H de Baets, Paul W H I Parren
Autoantibodies against ion channels are the cause of numerous neurologic autoimmune disorders. Frequently, such pathogenic autoantibodies have a restricted epitope-specificity. In such cases, competing antibody formats devoid of pathogenic effector functions (blocker antibodies) have the potential to treat disease by displacing autoantibodies from their target. Here, we have used a model of the neuromuscular autoimmune disease myasthenia gravis in rhesus monkeys (Macaca mulatta) to test the therapeutic potential of a new blocker antibody: MG was induced by passive transfer of pathogenic acetylcholine receptor-specific monoclonal antibody IgG1-637...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424375/mitochondria-a-central-target-for-sex-differences-in-pathologies
#3
REVIEW
Renée Ventura-Clapier, Maryline Moulin, Jérôme Piquereau, Christophe Lemaire, Mathias Mericskay, Vladimir Veksler, Anne Garnier
It is increasingly acknowledged that a sex and gender specificity affects the occurrence, development, and consequence of a plethora of pathologies. Mitochondria are considered as the powerhouse of the cell because they produce the majority of energy-rich phosphate bonds in the form of adenosine tri-phosphate (ATP) but they also participate in many other functions like steroid hormone synthesis, reactive oxygen species (ROS) production, ionic regulation, and cell death. Adequate cellular energy supply and survival depend on mitochondrial life cycle, a process involving mitochondrial biogenesis, dynamics, and quality control via mitophagy...
May 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28400861/revision-of-echocardiographic-indications-and-findings-in-neurologically-ill-patients
#4
Claudia Stöllberger, Christian Wegner, Josef Finsterer
BACKGROUND AND OBJECTIVE: Little is known about the general indications for echocardiography and the prevalence of abnormalities detected by echocardiography in patients who are referred from a neurological department. Left ventricular hypertrabeculation/noncompaction (LVHT) is associated with neuromuscular disorders and embolism. The aim of the study was to assess the indications for echocardiography in patients from a neurological department and to review the cine-loops of the examinations in order to assess the frequency of abnormal echocardiographic findings with special regard to LVHT...
2017: Open Cardiovascular Medicine Journal
https://www.readbyqxmd.com/read/28399889/cardiac-pathology-in-spinal-muscular-atrophy-a-systematic-review
#5
REVIEW
C A Wijngaarde, A C Blank, M Stam, R I Wadman, L H van den Berg, W L van der Pol
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28396416/proteolytic-control-of-the-mitochondrial-calcium-uniporter-complex
#6
Chen-Wei Tsai, Yujiao Wu, Ping-Chieh Pao, Charles B Phillips, Carole Williams, Christopher Miller, Matthew Ranaghan, Ming-Feng Tsai
The mitochondrial calcium uniporter is a Ca(2+)-activated Ca(2+) channel complex mediating mitochondrial Ca(2+) uptake, a process crucial for Ca(2+) signaling, bioenergetics, and cell death. The uniporter is composed of the pore-forming MCU protein, the gatekeeping MICU1 and MICU2 subunits, and EMRE, a single-pass membrane protein that links MCU and MICU1 together. As a bridging subunit required for channel function, EMRE could paradoxically inhibit uniporter complex formation if expressed in excess. Here, we show that mitochondrial mAAA proteases AFG3L2 and SPG7 rapidly degrade unassembled EMRE using the energy of ATP hydrolysis...
April 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28393671/secondary-conditions-among-males-with-duchenne-or-becker-muscular-dystrophy
#7
Rebecca Latimer, Natalie Street, Kristin Caspers Conway, Kathy James, Christopher Cunniff, Joyce Oleszek, Deborah Fox, Emma Ciafaloni, Christina Westfield, Pangaja Paramsothy
Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28384788/neurologic-evaluation-in-children-with-laryngeal-cleft
#8
Ryan D Walker, Alexandria L Irace, Margaret A Kenna, David K Urion, Reza Rahbar
Importance: Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and aspiration can result from anatomical causes (eg, laryngeal cleft), neuromuscular disorders, or some combination thereof. To date, no protocols or guidelines exist to identify which patients with laryngeal cleft should undergo neuroimaging studies and/or consultation with a neurologist. Objective: To establish guidelines for neurologic evaluation and imaging techniques to identify or rule out neuromuscular dysfunction in children with laryngeal cleft...
April 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28383599/assessment-of-knowledge-on-temporomandibular-disorders-among-mexican-dental-educators
#9
Irene A Espinosa, Edgar M Pérez, Yoly M Gonzalez, Alejandro Corona
Temporomandibular disorders (TMDs) is an umbrella term that embraces a group of musculoskeletal and neuromuscular conditions that involve the temporomandibular joints, muscles and all associated tissues. Because of the relatively high number of patients with TMDs in the population, instruction in this area of health care should be included on all dental curricula. Although levels of knowledge among dentists have been evaluated in several countries, they have not been in Mexico. This study evaluates the dental faculty's range of knowledge about TMD at five dental schools in Puebla, Mexico...
December 2016: Acta Odontológica Latinoamericana: AOL
https://www.readbyqxmd.com/read/28379354/motor-neuronal-repletion-of-the-nmj-organizer-agrin-modulates-the-severity-of-the-spinal-muscular-atrophy-disease-phenotype-in-model-mice
#10
Jeong-Ki Kim, Charlotte Caine, Tomoyuki Awano, Ruth Herbst, Umrao R Monani
Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of SMN deficiency are profound defects of the neuromuscular junctions (NMJs). In model mice these synapses appear disorganized, fail to mature and are characterized by poorly arborized nerve terminals. Given one role of the SMN protein in orchestrating the assembly of spliceosomal snRNP particles and subsequently regulating the alternative splicing of pre-mRNAs, a plausible link between SMN function and the distal neuromuscular SMA phenotype is an incorrectly spliced transcript or transcripts involved in establishing or maintaining NMJ structure...
March 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28379182/antisense-oligonucleotide-based-therapy-for-neuromuscular-disease
#11
REVIEW
Valentina Sardone, Haiyan Zhou, Francesco Muntoni, Alessandra Ferlini, Maria Sofia Falzarano
Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by muscle weakness and wasting. Until recently there were no effective therapies for these conditions, but antisense oligonucleotides, a new class of synthetic single stranded molecules of nucleic acids, have demonstrated promising experimental results and are at different stages of regulatory approval. The antisense oligonucleotides can modulate the protein expression via targeting hnRNAs or mRNAs and inducing interference with splicing, mRNA degradation, or arrest of translation, finally, resulting in rescue or reduction of the target protein expression...
April 5, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28377694/drosophila-melanogaster-as-a-model-organism-to-study-rna-toxicity-of-repeat-expansion-associated-neurodegenerative-and-neuromuscular-diseases
#12
REVIEW
Alex C Koon, Ho Yin Edwin Chan
For nearly a century, the fruit fly, Drosophila melanogaster, has proven to be a valuable tool in our understanding of fundamental biological processes, and has empowered our discoveries, particularly in the field of neuroscience. In recent years, Drosophila has emerged as a model organism for human neurodegenerative and neuromuscular disorders. In this review, we highlight a number of recent studies that utilized the Drosophila model to study repeat-expansion associated diseases (READs), such as polyglutamine diseases, fragile X-associated tremor/ataxia syndrome (FXTAS), myotonic dystrophy type 1 (DM1) and type 2 (DM2), and C9ORF72-associated amyotrophic lateral sclerosis/frontotemporal dementia (C9-ALS/FTD)...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28377392/effects-of-testosterone-and-evoked-resistance-exercise-after-spinal-cord-injury-terex-sci-study-protocol-for-a-randomised-controlled-trial
#13
Ashraf S Gorgey, Refka E Khalil, Ranjodh Gill, Laura C O'Brien, Timothy Lavis, Teodoro Castillo, David X Cifu, Jeannie Savas, Rehan Khan, Christopher Cardozo, Edward J Lesnefsky, David R Gater, Robert A Adler
INTRODUCTION: Individuals with spinal cord injury (SCI) are at a lifelong risk of obesity and chronic metabolic disorders including insulin resistance and dyslipidemia. Within a few weeks of injury, there is a significant decline in whole body fat-free mass, particularly lower extremity skeletal muscle mass, and subsequent increase in fat mass (FM). This is accompanied by a decrease in anabolic hormones including testosterone. Testosterone replacement therapy (TRT) has been shown to increase skeletal muscle mass and improve metabolic profile...
April 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/28375678/intracellular-distribution-and-nuclear-activity-of-antisense-oligonucleotides-after-unassisted-uptake-in-myoblasts-and-differentiated-myotubes-in-vitro
#14
Anchel González-Barriga, Bram Nillessen, Julia Kranzen, Ingeborg D G van Kessel, Huib J E Croes, Begoña Aguilera, Peter C de Visser, Nicole A Datson, Susan A M Mulders, Judith C T van Deutekom, Bé Wieringa, Derick G Wansink
Clinical efficacy of antisense oligonucleotides (AONs) for the treatment of neuromuscular disorders depends on efficient cellular uptake and proper intracellular routing to the target. Selection of AONs with highest in vitro efficiencies is usually based on chemical or physical methods for forced cellular delivery. Since these methods largely bypass existing natural mechanisms for membrane passage and intracellular trafficking, spontaneous uptake and distribution of AONs in cells are still poorly understood...
April 4, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28372949/sleep-disordered-breathing-in-neuromuscular-disease-diagnostic-and-therapeutic-challenges
#15
REVIEW
Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
Normal sleep related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity, become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease-specific features that promote upper airway collapse or cause dilated cardiomyopathy, contribute to various sleep-disordered breathing events. The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events...
March 31, 2017: Chest
https://www.readbyqxmd.com/read/28371371/zebrafish-mecp2-is-required-for-proper-axonal-elongation-of-motor-neurons-and-synapse-formation
#16
Keisuke Nozawa, Yanbin Lin, Ryota Kubodera, Yuki Shimizu, Hideomi Tanaka, Toshio Ohshima
Rett syndrome is a severe neurodevelopmental disorder. It is caused by a mutation in methyl-CpG binding protein 2 (MecP2), a transcriptional regulator that recruits protein complexes involved in histone modification and chromatin remodeling. However, the role of Mecp2 in Rett syndrome remains unclear. In this study, we investigated the function of Mecp2 in neuronal development using zebrafish embryos. Mecp2 expression was detected ubiquitously in the central nervous system and muscles at 28 hours post fertilization (hpf)...
April 2, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28370195/axonal-domain-disorganization-in-caspr1-and-caspr2-mutant-myelinated-axons-affects-neuromuscular-junction-integrity-leading-to-muscle-atrophy
#17
Julia Saifetiarova, Xi Liu, Anna M Taylor, Jie Li, Manzoor A Bhat
Bidirectional interactions between neurons and myelinating glial cells result in formation of axonal domains along myelinated fibers. Loss of axonal domains leads to detrimental consequences on nerve structure and function, resulting in reduced conductive properties and the diminished ability to reliably transmit signals to the targets they innervate. Thus, impairment of peripheral myelinated axons that project to the surface of muscle fibers and form neuromuscular junction (NMJ) synapses leads to muscle dysfunction...
April 3, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28369467/muscle-specific-expression-of-the-rna-binding-protein-staufen1-induces-progressive-skeletal-muscle-atrophy-via-regulation-of-phosphatase-tensin-homolog
#18
Tara E Crawford Parks, Aymeric Ravel-Chapuis, Emma Bondy-Chorney, Jean-Marc Renaud, Jocelyn Côté, Bernard J Jasmin
Converging lines of evidence have now highlighted the key role for post-transcriptional regulation in the neuromuscular system. In particular, several RNA-binding proteins are known to be misregulated in neuromuscular disorders including myotonic dystrophy type 1, spinal muscular atrophy and amyotrophic lateral sclerosis. In this study, we focused on the RNA-binding protein Staufen1, which assumes multiple functions in both skeletal muscle and neurons. Given our previous work that showed a marked increase in Staufen1 expression in various physiological and pathological conditions including denervated muscle, in embryonic and undifferentiated skeletal muscle, in rhabdomyosarcomas as well as in myotonic dystrophy type 1 muscle samples from both mouse models and humans, we investigated the impact of sustained Staufen1 expression in postnatal skeletal muscle...
March 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28367118/neurologic-correlates-of-gait-abnormalities-in-cerebral-palsy-implications-for-treatment
#19
REVIEW
Joanne Zhou, Erin E Butler, Jessica Rose
Cerebral palsy (CP) is the most common movement disorder in children. A diagnosis of CP is often made based on abnormal muscle tone or posture, a delay in reaching motor milestones, or the presence of gait abnormalities in young children. Neuroimaging of high-risk neonates and of children diagnosed with CP have identified patterns of neurologic injury associated with CP, however, the neural underpinnings of common gait abnormalities remain largely uncharacterized. Here, we review the nature of the brain injury in CP, as well as the neuromuscular deficits and subsequent gait abnormalities common among children with CP...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28366348/quality-of-life-and-excessive-daytime-sleepiness-in-children-and-adolescents-with-myotonic-dystrophy-type-1
#20
Genevieve Ho, John Widger, Michael Cardamone, Michelle A Farrar
OBJECTIVES: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease with variable severity that affects all ages. Sleepiness is an important co-morbidity affecting a large proportion of paediatric DM1 patients. The current study examined the relationship between sleepiness and quality of life in a paediatric DM1 cohort. METHODS: A cross-sectional study was conducted in children and adolescents with DM1 attending a multi-disciplinary neuromuscular clinic in a tertiary paediatric centre...
April 2017: Sleep Medicine
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