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Neuromuscular diseases

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https://www.readbyqxmd.com/read/29785098/sarcopenia-assessment-of-disease-burden-and-strategies-to-improve-outcomes
#1
REVIEW
Ilaria Liguori, Gennaro Russo, Luisa Aran, Giulia Bulli, Francesco Curcio, David Della-Morte, Gaetano Gargiulo, Gianluca Testa, Francesco Cacciatore, Domenico Bonaduce, Pasquale Abete
Life expectancy is increasing worldwide, with a resultant increase in the elderly population. Aging is characterized by the progressive loss of skeletal muscle mass and strength - a phenomenon called sarcopenia. Sarcopenia has a complex multifactorial pathogenesis, which involves not only age-related changes in neuromuscular function, muscle protein turnover, and hormone levels and sensitivity, but also a chronic pro-inflammatory state, oxidative stress, and behavioral factors - in particular, nutritional status and degree of physical activity...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29782004/levator-auris-longus-preparation-for-examination-of-mammalian-neuromuscular-transmission-under-voltage-clamp-conditions
#2
Steven R A Burke, Eric J Reed, Shannon H Romer, Andrew A Voss
This protocol describes a technique to record synaptic transmission from the neuromuscular junction under current-clamp and voltage-clamp conditions. An ex vivo preparation of the levator auris longus (LAL) is used because it is a thin muscle that provides easy visualization of the neuromuscular junction for microelectrode impalement at the motor endplate. This method allows for the recording of spontaneous miniature endplate potentials and currents (mEPPs and mEPCs), nerve-evoked endplate potentials and currents (EPPs and EPCs), as well as the membrane properties of the motor endplate...
May 5, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29781580/neuromuscular-electrical-stimulation-compared-to-volitional-exercise-in-improving-muscle-function-in-rheumatoid-arthritis-a-randomized-pilot-study
#3
Sara R Piva, Samannaaz S Khoja, Frederico G S Toledo, Mary Chester Wasko, G Kelley Fitzgerald, Bret H Goodpaster, Clair N Smith, Anthony Delitto
OBJECTIVES: To compare the feasibility and effectiveness of Neuromuscular Electrical Stimulation (NMES) with high-intensity volitional resistance training in improving muscle structure and function, and physical function in patients with rheumatoid arthritis (RA). We also described pre- and post-intervention values of myocyte characteristics. METHODS: Two-group single-blinded pilot randomized study in adults with RA. Participants were assigned to 36 sessions over 16 weeks of NMES (n=31) or volitional training (n=28)...
May 21, 2018: Arthritis Care & Research
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#4
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29779604/progress-in-the-treatment-of-patients-with-neuromuscular-and-nonmuscular-chest-wall-diseases
#5
EDITORIAL
F Dennis McCool, Joshua O Benditt
No abstract text is available yet for this article.
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779602/swallowing-and-secretion-management-in-neuromuscular-disease
#6
REVIEW
Deanna Britton, Chafic Karam, Joshua S Schindler
Neuromuscular disease frequently leads to dysphagia and difficulty managing secretions. Dysphagia may lead to medical complications, such as malnutrition, dehydration, aspiration pneumonia, and other pulmonary complications, as well as social isolation and reduced overall quality of life. This review provides an overview of dysphagia associated with neuromuscular disease in adults, along with a concise review of swallowing assessment and intervention options.
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779601/noninvasive-ventilation-for-neuromuscular-disease
#7
REVIEW
Dean R Hess
Noninvasive ventilation (NIV) is standard practice for patients with neuromuscular respiratory failure. The interface distinguishes noninvasive from invasive ventilation. Interfaces are commercially available in a variety of styles and sizes. There are now available portable ventilators with good leak compensation and with a variety of modes. Although much has been written about the technical aspects of interfaces and ventilators, the initiation of NIV is an art. Selection of an appropriate interface and ventilator settings requires a close working relationship between clinicians, patients, and families...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779593/assessing-diaphragm-function-in-chest-wall-and-neuromuscular-diseases
#8
REVIEW
Taro Minami, Kamran Manzoor, F Dennis McCool
Diaphragm dysfunction is defined as the partial or complete loss of diaphragm muscle contractility. However, because the diaphragm is one of only a few skeletal muscles that is not amenable to direct examination, the tools available for the clinician to assess diaphragm function have been limited. Traditionally, measures of lung volume, inspiratory muscle strength, and radiographic techniques such as fluoroscopy have provided the major method to assess diaphragm function. Measurement of transdiaphragmatic pressure provides the most direct means of evaluating the diaphragm, but this technique is not readily available to clinicians...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779591/sleep-disordered-breathing-in-neuromuscular-and-chest-wall-diseases
#9
REVIEW
Janet Hilbert
Neuromuscular and chest wall diseases include a diverse group of conditions that share common risk factors for sleep-disordered breathing, including respiratory muscle weakness and/or thoracic restriction. Sleep-disordered breathing results from both the effects of normal sleep on ventilation and the additional challenges imposed by the underlying disorders. Patterns of sleep- disordered breathing vary with the specific diagnosis and stage of disease. Sleep hypoventilation precedes diurnal respiratory failure and may be difficult to recognize clinically because symptoms are nonspecific...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779590/pathophysiology-of-neuromuscular-respiratory-diseases
#10
REVIEW
Joshua O Benditt
Gas exchange between the atmosphere and the human body depends on the lungs and the function of the respiratory pump. The respiratory pump consists of the respiratory control center located in the brain, bony rib cage, diaphragm, and intercostal, accessory, and abdominal muscles. A variety of muscles serve to fine-tune adjustments of ventilation to metabolic demands. Appropriate evaluation and interventions can prevent respiratory complications and prolong life in individuals with neuromuscular diseases. This article discusses normal function of the respiratory pump, general pathophysiologic issues, and abnormalities in more common neuromuscular diseases...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29775120/successful-improvement-of-pain-symptomatology-in-a-suspected-case-of-cramp-fasciculation-syndrome-via-interventional-pain-treatment
#11
Anita Gupta, Lucas First, Celeste A Swain
Peripheral nerve hyperexcitability (PNH) syndromes are a rare set of neuromuscular disorders that include cramp-fasciculation syndrome (CFS) and Isaacs syndrome (IS). Successful treatment of these diseases has been achieved with antiepileptic medications; however, chronic pain symptoms can persist. We provide a case report of a 25-year-old female who has suffered from painful severe muscle spasms and fasciculations since childhood. With CFS as our working diagnosis, a treatment regimen using interventional pain techniques, including sympathetic chain blocks, ketamine infusions, and trigger point injections, resulted in a significant decrease in the patient's chronic pain symptoms...
May 18, 2018: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/29774231/semaphorin3a-signaling-is-dispensable-for-motor-axon-reinnervation-of-the-adult-neuromuscular-junction
#12
Jennifer L Shadrach, Brian A Pierchala
The neuromuscular junction (NMJ) is a specialized synapse that is formed by motor axon innervation of skeletal muscle fibers. The maintenance of motor-muscle connectivity is critical for the preservation of muscle tone and generation of movement. Injury can induce a robust regenerative response in motor axons, but severe trauma or chronic denervation resulting from neurodegenerative disease typically leads to inefficient repair and poor functional recovery. The axon guidance molecule Semaphorin3A (Sema3A) has been implicated as a negative regulator of motor innervation...
May 2018: ENeuro
https://www.readbyqxmd.com/read/29773756/mir126-5p-down-regulation-facilitates-axon-degeneration-and-nmj-disruption-via-a-non-cell-autonomous-mechanism-in-als
#13
Roy Maimon, Ariel Ionescu, Avichai Bonnie, Sahar Sweetat, Shane Wald-Altman, Shani Inbar, Tal Gradus, Davide Trotti, Miguel Weil, Oded Behar, Eran Perlson
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in Amyotrophic Lateral Sclerosis (ALS) pathology. Although the disease's etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and alterations in RNA metabolism. Here, we identified reduced levels of miR-126-5p in pre-symptomatic ALS male mice models, and an increase in its targets: axon destabilizing type-3 Semaphorins and their co-receptor Neuropilins. Utilizing compartmentalized in vitro co-cultures, we demonstrated that myocytes expressing diverse ALS-causing mutations promote axon degeneration and NMJ dysfunction, which were inhibited by applying Neuropilin1 (NRP1) blocking antibody...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29773292/health-related-quality-of-life-measurement-in-patients-with-chronic-respiratory-failure
#14
REVIEW
Toru Oga, Wolfram Windisch, Tomohiro Handa, Toyohiro Hirai, Kazuo Chin
The improvement of health-related quality of life (HRQL) is an important goal in managing patients with chronic respiratory failure (CRF) receiving long-term oxygen therapy (LTOT) and/or domiciliary noninvasive ventilation (NIV). Two condition-specific HRQL questionnaires have been developed to specifically assess these patients: the Maugeri Respiratory Failure Questionnaire (MRF) and the Severe Respiratory Insufficiency Questionnaire (SRI). The MRF is more advantageous in its ease of completion; conversely, the SRI measures diversified health impairments more multi-dimensionally and discriminatively with greater balance, especially in patients receiving NIV...
May 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29766941/idiopathic-inflammatory-myopathies-in-adults-a-comparative-study-of-bohan-and-peter-and-european-neuromuscular-center-2004-criteria
#15
Sundaram Challa, Saumya Jakati, Megha S Uppin, Meena A Kannan, Rajasekhar Liza, M K Murthy Jagarlapudi
Background: Bohan and Peter criteria are widely used for the diagnosis of idiopathic inflammatory myopathies (IIMs). Recently, European Neuromuscular Center (ENMC) formulated criteria to identify subgroups of IIMs. Aim: To compare the two diagnostic criteria in adult IIMs. Materials and Methods: This was a retrospective review of case records of histologically confirmed IIMs in adults between January 2014 and May 2015. Both the Bohan and Peter, and ENMC 2004 criteria were applied in the same group of patients to subgroup the IIMs...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29766505/esophageal-multimodal-stimulation-and-sensation
#16
REVIEW
Dag Arne Lihaug Hoff, Barry McMahon, Hans Gregersen
Esophageal mechanosensation describes the relationship between a mechanical stimulation of the esophageal wall, such as bag distension, and the reaction to the stimulation perceived or unperceived. When studying mechanosensation in esophageal disease, it is important to recognize that symptoms might be due to alterations at different levels of the neuromuscular system, such as alterations at the mechanoreceptor level or in the afferent mechanosensory pathways, or irregularities in the homeostatic state. One might ask if it is possible to provoke, record, and describe the multidimensional responses behind a mechanosensory experience? It is a complex system and, at a minimum, a multidisciplinary approach is needed to avoid erroneous conclusions...
May 16, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29765992/serological-immunoglobulin-free-light-chain-profile-in-myasthenia-gravis-patients
#17
Umberto Basile, Mariapaola Marino, Cecilia Napodano, Krizia Pocino, Paolo Emilio Alboini, Francesca Gulli, Amelia Evoli, Carlo Provenzano, Emanuela Bartoccioni
Background: Serological levels of free immunoglobulin light chains (FLCs), produced in excess of heavy chains during synthesis of immunoglobulins by plasma cells, can be considered a direct marker of B cell activity in different systemic inflammatory-autoimmune conditions and may represent a useful predictor of rituximab (RTX) therapeutic efficacy, as reported for rheumatoid arthritis and systemic lupus erythematosus. Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction with antibodies (abs) targeting the acetylcholine receptor (AChR) or the muscle-specific tyrosine kinase (MuSK), inducing muscle weakness and excessive fatigability...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29764981/mice-with-endogenous-tdp-43-mutations-exhibit-gain-of-splicing-function-and-characteristics-of-amyotrophic-lateral-sclerosis
#18
Pietro Fratta, Prasanth Sivakumar, Jack Humphrey, Kitty Lo, Thomas Ricketts, Hugo Oliveira, Jose M Brito-Armas, Bernadett Kalmar, Agnieszka Ule, Yichao Yu, Nicol Birsa, Cristian Bodo, Toby Collins, Alexander E Conicella, Alan Mejia Maza, Alessandro Marrero-Gagliardi, Michelle Stewart, Joffrey Mianne, Silvia Corrochano, Warren Emmett, Gemma Codner, Michael Groves, Ryutaro Fukumura, Yoichi Gondo, Mark Lythgoe, Erwin Pauws, Emma Peskett, Philip Stanier, Lydia Teboul, Martina Hallegger, Andrea Calvo, Adriano Chiò, Adrian M Isaacs, Nicolas L Fawzi, Eric Wang, David E Housman, Francisco Baralle, Linda Greensmith, Emanuele Buratti, Vincent Plagnol, Elizabeth Mc Fisher, Abraham Acevedo-Arozena
TDP-43 (encoded by the gene TARDBP ) is an RNA binding protein central to the pathogenesis of amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations trigger pathogenesis remains unknown. Here, we use novel mouse mutants carrying point mutations in endogenous Tardbp to dissect TDP-43 function at physiological levels both in vitro and in vivo Interestingly, we find that mutations within the C-terminal domain of TDP-43 lead to a gain of splicing function. Using two different strains, we are able to separate TDP-43 loss- and gain-of-function effects...
May 15, 2018: EMBO Journal
https://www.readbyqxmd.com/read/29764215/myotonic-dystrophytype-1-report-of-non-24-h-sleep-wake-disorder-with-excessive-daytime-sleepiness
#19
Lucio Huebra Pimentel Filho, Ana Carolina Dias Gomes, Bruno Gonçalves, Sergio Tufik, Fernando Morgadinho Coelho
Myotonic dystrophy (MD) is a neuromuscular disease with myotonia, progressive weakness, and involvement of CNS, heart, and gastrointestinal system. Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (MD1) is related to sleep breathing diseases, restless leg syndrome, periodic limb movements during sleep and narcoleptic-like phenotype. However, authors highlight a central dysfunction of sleep regulation. We describe a 26-year-old, female, MD1 patient with EDS. Sleep diary/actigraphy evidenced two different circadian periods with values of 1442 and 1522 min...
May 15, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29763710/diabetes-mellitus-in-friedreich-ataxia-a-case-series-of-19-patients-from-the-german-austrian-diabetes-mellitus-registry
#20
Angeliki Pappa, Martin G Häusler, Andreas Veigel, Konstantina Tzamouranis, Martin W Pfeifer, Andreas Schmidt, Martin Bökamp, Holger Haberland, Siegfried Wagner, Joachim Brückel, Gideon de Sousa, Lukas Hackl, Esther Bollow, Reinhard W Holl
Friedreich ataxia (FRDA) is a multisystem autosomal recessive disease with progressive clinical course involving the neuromuscular and endocrine system. Diabetes mellitus (DM) is one typical non-neurological manifestation, caused by beta cell failure and insulin resistance. Because of its rarity, knowledge on DM in FRDA is limited. Based on data from 200 301 patients with DM of the German-Austrian diabetes registry (DPV) and two exemplary patient reports, characteristics of patients with DM and FRDA are compared with classical type 1 or type 2 diabetes...
May 12, 2018: Diabetes Research and Clinical Practice
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