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https://www.readbyqxmd.com/read/29453960/synaptic-dysfunction-and-altered-excitability-in-c9orf72-als-ftd
#1
Alexander Starr, Rita Sattler
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is now considered a spectrum disease together with frontotemporal dementia (FTD), the second most common cause of dementia in individuals under the age of 65. Interestingly, in both diseases, there is a large prevalence of RNA binding proteins (RBPs) that are mutated and considered disease-causing, or whose dysfunction contribute to disease pathogenesis...
February 14, 2018: Brain Research
https://www.readbyqxmd.com/read/29453743/neuromuscular-control-deficits-and-the-risk-of-subsequent-injury-after-a-concussion-a-scoping-review
#2
REVIEW
David R Howell, Robert C Lynall, Thomas A Buckley, Daniel C Herman
An emerging area of research has identified that an increased risk of musculoskeletal injury may exist upon returning to sports after a sport-related concussion. The mechanisms underlying this recently discovered phenomenon, however, remain unknown. One theorized reason for this increased injury risk includes residual neuromuscular control deficits that remain impaired despite clinical recovery. Thus, the objectives of this review were: (1) to summarize the literature examining the relationship between concussion and risk of subsequent injury and (2) to summarize the literature for one mechanism with a theorized association with this increased injury risk, i...
February 17, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29453639/upper-airway-obstruction-induced-by-non-invasive-ventilation-using-an-oronasal-interface
#3
Valentin Schellhas, Christian Glatz, Ingo Beecken, Angelika Okegwo, Anna Heidbreder, Peter Young, Matthias Boentert
BACKGROUND: On initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular. METHODS: We evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask...
February 17, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29450865/erratum-to-super-resolution-single-molecule-fish-at-the-drosophila-neuromuscular-junction
#4
Joshua S Titlow, Lu Yang, Richard M Parton, Ana Palanca, Ilan Davis
No abstract text is available yet for this article.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29449768/grade-iv-inferior-glenohumeral-mobilization-does-not-immediately-alter-shoulder-and-scapular-muscle-activity-a-repeated-measures-study-in-asymptomatic-individuals
#5
Daniel Cury Ribeiro, Ashleigh Day, Clark R Dickerson
Objectives: To assess: (1) the presence of any carry-over effect between interventions; (2) the immediate effects of inferior shoulder mobilization on shoulder and scapular muscle activity; and (3) to compare muscle activity response between the control and mobilization conditions. Repeated measures, cross-over, pre-post intervention study with sample of convenience. Methods: Twenty-two asymptomatic individuals performed 10 repetitions of shoulder abduction before and after the control and mobilization, with a dosage of three sets of 30-s duration, with grade-IV...
December 2017: Journal of Manual & Manipulative Therapy
https://www.readbyqxmd.com/read/29449118/shot-by-a-gun-%C3%A2-missed-by-a-provider
#6
Eddie Garcia, Abdul H Zaid, Diane P Calello, Lisa McHugh, Grant Arzumanov, Najaf Asrar, Ari Sapin, Kristin G Fless
BACKGROUND: Botulism is a paralytic disease caused by the neurotoxin produced by Clostridium botulinum. The majority of cases are due to ingestion or injection drug use. Wound botulism from traumatic injury is exceedingly rare, with only one to two cases reported each year in the United States. CASE REPORT: A 27-year-old man presented to the Emergency Department with diplopia, dysphagia, and progressive weakness 10 days after sustaining a gunshot wound to his right lower leg...
February 12, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29447105/multi-muscle-electrical-stimulation-and-stand-training-effects-on-standing
#7
Kamyar Momeni, Arvind Ramanujam, Erica L Garbarini, Gail F Forrest
OBJECTIVE: To examine the biomechanical and neuromuscular effects of a longitudinal multi-muscle electrical stimulation (submaximal intensities) training of the lower limbs combined with/without activity-based stand training, on the recovery of stability and function for one individual with spinal cord injury (SCI). DESIGN: Single-subject, longitudinal study. SETTING: Neuroplasticity laboratory. PARTICIPANT: A 34-year-old male, with sensory- and motor-complete SCI (C5/C6)...
February 15, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29445539/the-clinical-usefulness-of-a-self-administered-questionnaire-for-sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#8
Cathy Zhang, Michelle Ramsay, Panagis Drakatos, Joerg Steier
Background: Patients with neuromuscular disease (NMD) are at risk of developing sleep-disordered breathing (SDB) with hypercapnic respiratory failure. We hypothesised that a self-administered questionnaire (SiNQ-5 scores) may be useful to assess patients who are established on treatment for NMD with SDB. Methods: Patients attending a tertiary referral centre filled in the SiNQ-5 (range 0-10 points, lower scores indicating fewer symptoms). The questionnaire contains five questions related to breathlessness, sleep and posture...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29445465/the-physiotherapeutic-variable-approach-technique-an-example-of-neuromotor-adaptation-conveyed-by-the-neuromuscular-spindle
#9
Maria Russo, Giuseppe Cultrera
The subcortical systems control the proper functioning of the automatic substrate required for movement. Such a substrate is often underestimated to give attention to voluntary movement. By applying Variable Approach technique, it is possible to communicate with automatic systems through muscular spindles to achieve a more functional volunteer movement.
February 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29445330/non-neural-muscle-weakness-has-limited-influence-on-complexity-of-motor-control-during-gait
#10
Marije Goudriaan, Benjamin R Shuman, Katherine M Steele, Marleen Van den Hauwe, Nathalie Goemans, Guy Molenaers, Kaat Desloovere
Cerebral palsy (CP) and Duchenne muscular dystrophy (DMD) are neuromuscular disorders characterized by muscle weakness. Weakness in CP has neural and non-neural components, whereas in DMD, weakness can be considered as a predominantly non-neural problem. Despite the different underlying causes, weakness is a constraint for the central nervous system when controlling gait. CP demonstrates decreased complexity of motor control during gait from muscle synergy analysis, which is reflected by a higher total variance accounted for by one synergy (tVAF 1 )...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#11
Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11...
February 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29444762/hemimegalencephaly-with-bannayan-riley-ruvalcaba-syndrome
#12
Ryan Ghusayni, Monisha Sachdev, William Gallentine, Mohamad A Mikati, Marie T McDonald
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29443739/effects-of-exercise-on-secretion-transport-inflammation-and-quality-of-life-in-patients-with-noncystic-fibrosis-bronchiectasis-protocol-for-a-randomized-controlled-trial
#13
Daniele Oliveira Dos Santos, Hugo Celso Dutra de Souza, José Antônio Baddini-Martinez, Ercy Mara Cipulo Ramos, Ada Clarice Gastaldi
BACKGROUND: Bronchiectasis is characterized by pathological and irreversible bronchial dilatation caused by the inefficient mucus and microorganism clearance and progression of inflammatory processes. The most frequent characteristic is the increase in bronchial mucus production resulting in slower transport and damage to the mucociliary transport. AIMS: To evaluate the effects of exercise on mucus transport, inflammation, and resistance of the respiratory and autonomic nervous systems and subsequent effects on quality of life in patients with bronchiectasis who are enrolled in a pulmonary rehabilitation program...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443731/recovery-of-an-injured-corticofugal-tract-from-the-supplementary-motor-area-in-a-patient-with-traumatic-brain-injury-a-case-report
#14
Sung Ho Jang, Seong Ho Kim, Jeong Pyo Seo
RATIONALE: We report on a patient with traumatic brain injury who showed motor recovery concurrent with recovery of injured corticofugal tracts (CFTs), diagnosed by diffusion tensor tractography (DTT). PATIENT CONCERNS: Four weeks after onset, when the patient started rehabilitation, he showed severe weakness of both upper and lower extremities [Motricity Index (MI, full score: 100/100): 9/30]. DIAGNOSES: A 29-year-old male patient underwent conservative management for traumatic hemorrhages in both frontal lobes and right thalamus resulting from a car accident...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443103/paradigms-of-lower-extremity-electrical-stimulation-training-after-spinal-cord-injury
#15
Ashraf S Gorgey, Refka E Khalil, Robert M Lester, Gary A Dudley, David R Gater
Skeletal muscle atrophy, increased adiposity and reduced physical activity are key changes observed after spinal cord injury (SCI) and are associated with numerous cardiometabolic health consequences. These changes are likely to increase the risk of developing chronic secondary conditions and impact the quality of life in persons with SCI. Surface neuromuscular electrical stimulation evoked resistance training (NMES-RT) was developed as a strategy to attenuate the process of skeletal muscle atrophy, decrease ectopic adiposity, improve insulin sensitivity and enhance mitochondrial capacity...
February 1, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29442142/classic-papers-on-pelvic-floor-physiotherapy-the-most-frequently-cited-articles-in-three-decades-1983-2013
#16
REVIEW
Alexandre Fornari, Cristiane Carboni
INTRODUCTION AND HYPOTHESIS: Pelvic floor physiotherapy has been utilized extensively over the past decades for the treatment of pelvic floor dysfunctions. The aim of this study was to identify and characterize the most frequently cited articles on pelvic floor physiotherapy published in the last 30 years. METHODS: A PubMed search of all articles published between 1983 and 2013 was performed. Articles with more than 100 citations were identified as "classic," and were further analyzed based on author names, year of publication, journal of publication, subject, study design, country of research, and number of citations...
February 13, 2018: International Urogynecology Journal
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#17
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29441401/exercise-induced-fatigue-in-young-people-advances-and-future-perspectives
#18
REVIEW
Dimitrios A Patikas, Craig A Williams, Sébastien Ratel
PURPOSE: In recent decades, the interest for exercise-induced fatigue in youth has substantially increased, and the effects of growth on the peripheral (muscular) and central (neural) mechanisms underpinning differences in neuromuscular fatigue between healthy children and adults have been described more extensively. The purpose of this review is to retrieve, report, and analyse the findings of studies comparing neuromuscular fatigue between children and adults. Objective measures of the evaluation of the physiological mechanisms are discussed...
February 13, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29440993/increasing-agrin-function-antagonizes-muscle-atrophy-and-motor-impairment-in-spinal-muscular-atrophy
#19
Marina Boido, Elena De Amicis, Valeria Valsecchi, Marco Trevisan, Ugo Ala, Markus A Ruegg, Stefan Hettwer, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a pediatric genetic disease, characterized by motor neuron (MN) death, leading to progressive muscle weakness, respiratory failure, and, in the most severe cases, to death. Abnormalities at the neuromuscular junction (NMJ) have been reported in SMA, including neurofilament (NF) accumulation at presynaptic terminals, immature and smaller than normal endplates, reduced transmitter release, and, finally, muscle denervation. Here we have studied the role of agrin in SMAΔ7 mice, the experimental model of SMAII...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29440566/comprehensive-systematic-review-summary-treatment-of-cerebellar-motor-dysfunction-and-ataxia-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology
#20
Theresa A Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S H Subramony, Jeremy D Schmahmann, K P Figueroa, Hidehiro Mizusawa, Ludger Schöls, Jessica D Shaw, Richard M Dubinsky, Melissa J Armstrong, Gary S Gronseth, Kelly L Sullivan
OBJECTIVE: To systematically review evidence regarding ataxia treatment. METHODS: A comprehensive systematic review was performed according to American Academy of Neurology methodology. CONCLUSIONS: For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study)...
February 9, 2018: Neurology
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