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Neuromuscular diseases

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https://www.readbyqxmd.com/read/29144103/effects-of-home-based-superimposed-neuromuscular-electrical-stimulation-in-severe-chronic-obstructive-pulmonary-disease-patients-a-randomized-controlled-clinical-trial
#1
Marie C Valenza, Irene Torres-Sánchez, Laura López-López, Irene Cabrera-Martos, Araceli Ortiz-Rubio, Gerald Valenza-Demet
BACKGROUND: COPD patients experience a sustained deterioration of several capacities. Those with severe COPD undergo a considerable decline in their physical and functional capacities, but pulmonary rehabilitation (PR) is used to reduce the weakness of such patients. To date, neuromuscular electrical stimulation (NMES) has been used in acute COPD patients but NMES superimposed onto voluntary muscular contraction has not been tested in COPD patients. AIM: The aim of this study was to evaluate the effects of superimposed NMES on the cardiorespiratory performance and functionality of severe COPD patients undergoing a home-based rehabilitation program...
November 16, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#2
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29142739/classification-of-amyotrophic-lateral-sclerosis-disease-based-on-convolutional-neural-network-and-reinforcement-sample-learning-algorithm
#3
Abdulkadir Sengur, Yaman Akbulut, Yanhui Guo, Varun Bajaj
Electromyogram (EMG) signals contain useful information of the neuromuscular diseases like amyotrophic lateral sclerosis (ALS). ALS is a well-known brain disease, which can progressively degenerate the motor neurons. In this paper, we propose a deep learning based method for efficient classification of ALS and normal EMG signals. Spectrogram, continuous wavelet transform (CWT), and smoothed pseudo Wigner-Ville distribution (SPWVD) have been employed for time-frequency (T-F) representation of EMG signals. A convolutional neural network is employed to classify these features...
December 2017: Health Information Science and Systems
https://www.readbyqxmd.com/read/29138386/reverse-less-invasive-stabilization-system-liss-plating-for-proximal-femur-fractures-in-poliomyelitis-survivors-a-report-of-two-cases
#4
Chen Yao, Dongxu Jin, Changqing Zhang
BACKGROUND Poliomyelitis is a neuromuscular disease which causes muscle atrophy, skeletal deformities, and disabilities. Treatment of hip fractures on polio-affect limbs is unique and difficult, since routine fixation methods like nailing may not be suitable due to abnormal skeletal structures. CASE REPORT We report one femoral neck fracture and one subtrochanteric fracture in polio survivors successfully treated with reverse less invasive stabilization system (LISS) plating technique. Both fractures were on polio-affected limbs with significant skeletal deformities and low bone density...
November 15, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29137918/spinobulbar-muscular-atrophy-combined-with-atypical-hereditary-neuropathy-with-liability-to-pressure-palsy
#5
Kyomin Choi, So Hyun Ahn, Seol-Hee Baek, Jun-Soon Kim, Seok-Jin Choi, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Jung-Joon Sung
Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We report a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62-year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29130599/interstitial-microdeletion-of-17q11-2-is-associated-with-hypotonia-fatigue-intellectual-disability-and-a-subtle-facial-phenotype-in-three-unrelated-patients
#6
Deborah Osio, Julia Rankin, Hannele Koillinen, Adele Reynolds, Hilde Van Esch
Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different countries, with developmental delay, intellectual disability, hypotonia, fatigue, and highly similar dysmorphic facial features. Shared facial features are a broad and wide forehead, similar shape of the eyes with long palpebral fissures, a bulbous tip of the nose and thick lips...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130502/cardiac-involvement-in-the-muscular-dystrophies
#7
REVIEW
Nicholas J Silvestri, Haisam Ismail, Peter Zimetbaum, Elizabeth M Raynor
Cardiac disease is a common clinical manifestation present in a variety of neuromuscular disorders, most notably the muscular dystrophies. Heart disease may produce the presenting or predominant symptoms in these disorders but more often does not result in clinical features at the time of initial presentation. Cardiac involvement in the muscular dystrophies results from pathologic changes in the myocardium and the cardiac conduction system, leading to cardiomyopathy and/or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death...
November 11, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#8
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#9
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#10
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125194/amyotrophic-lateral-sclerosis-a-case-report-and-mechanistic-review-of-the-association-with-toluene-and-other-volatile-organic-compounds
#11
Marcia H Ratner, Joe F Jabre, William M Ewing, Mohamed Abou-Donia, L Christine Oliver
Unmasking of latent neurodegenerative disease has been reported following exposure to chemicals that share one or more mechanisms of action in common with those implicated in the specific disease. For example, unmasking of latent Parkinson's disease (PD) has been associated with exposure to anti-dopaminergic agents, while the progression of pre-existing mild cognitive impairment and unmasking of latent Alzheimer's disease has been associated with exposure to general anesthetic agents which promote Aβ protein aggregation...
November 10, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/29125190/lambert-eaton-myasthenic-syndrome-mouse-passive-transfer-model-illuminates-disease-pathology-and-facilitates-testing-therapeutic-leads
#12
REVIEW
Stephen D Meriney, Tyler B Tarr, Kristine S Ojala, Man Wu, Yizhi Li, David Lacomis, Adolfo Garcia-Ocaña, Mary Liang, Guillermo Valdomir, Peter Wipf
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder caused by antibodies directed against the voltage-gated calcium channels that provide the calcium ion flux that triggers acetylcholine release at the neuromuscular junction. To study the pathophysiology of LEMS and test candidate therapeutic strategies, a passive-transfer animal model has been developed in mice, which can be created by daily intraperitoneal injections of LEMS patient serum or IgG into mice for 2-4 weeks. Results from studies of the mouse neuromuscular junction have revealed that each synapse has hundreds of transmitter release sites but that the probability for release at each one is likely to be low...
November 10, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29125188/the-mouse-passive-transfer-model-of-musk-myasthenia-gravis-disrupted-musk-signaling-causes-synapse-failure
#13
REVIEW
Nazanin Ghazanfari, Sofie Trajanovska, Marco Morsch, Simon X Liang, Stephen W Reddel, William D Phillips
While the majority of myasthenia gravis patients express antibodies targeting the acetylcholine receptor, the second most common cohort instead displays autoantibodies against muscle-specific kinase (MuSK). MuSK is a transmembrane tyrosine kinase found in the postsynaptic membrane of the neuromuscular junction. During development, MuSK serves as a signaling hub, coordinating the alignment of the pre- and postsynaptic components of the synapse. Adult mice that received repeated daily injections of IgG from anti-MuSK(+) myasthenia gravis patients developed muscle weakness, associated with neuromuscular transmission failure...
November 10, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29121404/the-association-of-british-neurologists-myasthenia-gravis-guidelines
#14
Jon Sussman, Maria E Farrugia, Paul Maddison, Marguerite Hill, M Isabel Leite, David Hilton-Jones
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction for which many therapies were developed before the era of evidence-based medicine. Despite the basic principles of treatment being well known, patients continue to receive suboptimal treatment. A myasthenia gravis guidelines group was therefore established under the aegis of the Association of British Neurologists. These guidelines attempt to steer a path between evidence-based practice where available and established best practice where evidence is unavailable...
November 9, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29115704/recessive-distal-motor-neuropathy-with-pyramidal-signs-in-an-omani-kindred-underlying-novel-mutation-in-the-sigmar1-gene
#15
Ramachandiran Nandhagopal, Douja Meftah, Sami Al-Kalbani, Patrick Scott
BACKGROUND: Distal hereditary motor neuropathy (dHMN) due to sigma nonopiod intracellular receptor 1 gene (SIGMAR1) mutation (OMIM 601978.0003) is a rare neuromuscular disorder characterized by prominent amyotrophic distal limb weakness and co-existing pyramidal signs initially described in a Chinese family in the recent year. We report an extended consanguineous Omani family segregating dHMN with pyramidal signs in an autosomal recessive pattern and describe a novel mutation in the SIGMAR1 gene underlying this motor phenotype...
November 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29115367/bahng-score-predictive-model-for-detection-of-subjects-with-the-oropharynx-colonized-by-uncommon-microorganisms
#16
J González-Del Castillo, J Teja-Marina, F J Candel, J Barberán, A Moreno-Cuervo, F Chiarella, L López-González, P Ramos-Cordero, F J Martín-Sánchez
OBJECTIVE: Pneumonia is most frequently produced by the microaspiration of flora that colonizes the oropharynx. Etiological diagnosis of pneumonia is infrequent in clinical practise and empirical treatment should be prescribed. The aims of the present study were to determine the factors associated with oropharynx colonization by uncommon microorganisms (UM) and to develop a predictive model. METHODS: A cross-sectional study that included all pa-tients living in one long-term care facilities was developed...
November 6, 2017: Revista Española de Quimioterapia: Publicación Oficial de la Sociedad Española de Quimioterapia
https://www.readbyqxmd.com/read/29114039/neuronal-activity-drives-fmrp-and-hspg-dependent-matrix-metalloproteinase-function-required-for-rapid-synaptogenesis
#17
Mary L Dear, Jarrod Shilts, Kendal Broadie
Matrix metalloproteinase (MMP) functions modulate synapse formation and activity-dependent plasticity. Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability. Gene expression studies in Drosophila suggest that Mmps cooperate with the heparan sulfate proteoglycan (HSPG) glypican co-receptor Dally-like protein (Dlp) to restrict trans-synaptic Wnt signaling and that synaptogenic defects in the fly model of FXS are alleviated by either inhibition of Mmp or genetic reduction of Dlp...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29114033/na-leak-with-gating-pore-properties-in-hypokalemic-periodic-paralysis-v876e-mutant-muscle-ca-channel
#18
Clarisse Fuster, Jimmy Perrot, Christine Berthier, Vincent Jacquemond, Pierre Charnet, Bruno Allard
Type 1 hypokalemic periodic paralysis (HypoPP1) is a poorly understood genetic neuromuscular disease characterized by episodic attacks of paralysis associated with low blood K(+) The vast majority of HypoPP1 mutations involve the replacement of an arginine by a neutral residue in one of the S4 segments of the α1 subunit of the skeletal muscle voltage-gated Ca(2+) channel, which is thought to generate a pathogenic gating pore current. The V876E HypoPP1 mutation has the peculiarity of being located in the S3 segment of domain III, rather than an S4 segment, raising the question of whether such a mutation induces a gating pore current...
November 7, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/29108502/colonic-adventitial-fibromuscular-dysplasia-a-nonspecific-arteriopathy-associated-with-hirschsprung-disease-and-other-obstructive-disorders
#19
Ameet I Thaker, Raj P Kapur
Background Smooth muscle differentiation ("adventitial fibromuscular dysplasia," AFD) was purported as specific to arteries in the transition zone of Hirschsprung disease (HSCR) patients. We investigated AFD in an HSCR population and controls and consider the pathogenesis and significance of the vascular pathology. Design Vascular histology in sections from colonic HSCR resections (n = 55) was compared with age- and site-matched controls with (n = 19) and without (n = 28) non-HSCR obstructive conditions...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29105153/making-sense-of-antisense-oligonucleotides-a-narrative-review
#20
REVIEW
Neelam Goyal, Pushpa Narayanaswami
Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins or reduce toxicity of mutant proteins...
November 3, 2017: Muscle & Nerve
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