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Neuromuscular diseases

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https://www.readbyqxmd.com/read/28103314/expression-of-a-mutant-sema3a-protein-with-diminished-signalling-capacity-does-not-alter-als-related-motor-decline-or-confer-changes-in-nmj-plasticity-after-botoxa-induced-paralysis-of-male-gastrocnemic-muscle
#1
Elizabeth B Moloney, Barbara Hobo, Fred De Winter, Joost Verhaagen
Terminal Schwann cells (TSCs) are specialized cells that envelop the motor nerve terminal, and play a role in the maintenance and regeneration of neuromuscular junctions (NMJs). The chemorepulsive protein semaphorin 3A (SEMA3A) is selectively up-regulated in TSCs on fast-fatigable muscle fibers following experimental denervation of the muscle (BotoxA-induced paralysis or crush injury to the sciatic nerve) or in the motor neuron disease amyotrophic lateral sclerosis (ALS). Re-expression of SEMA3A in this subset of TSCs is thought to play a role in the selective plasticity of nerve terminals as observed in ALS and following BotoxA-induced paralysis...
2017: PloS One
https://www.readbyqxmd.com/read/28102521/clinical-assessment-and-train-of-four-measurements-in-critically-ill-patients-treated-with-recommended-doses-of-cisatracurium-or-atracurium-for-neuromuscular-blockade-a-prospective-descriptive-study
#2
Pierre Bouju, Jean-Marc Tadié, Nicolas Barbarot, Julien Letheulle, Fabrice Uhel, Pierre Fillatre, Guillaume Grillet, Angélique Goepp, Yves Le Tulzo, Arnaud Gacouin
BACKGROUND: Despite few studies, a monitoring of a neuromuscular blockade with a train of four (TOF) is recommended in intensive care unit (ICU). Our objective was to compare the results of ulnar and facial TOF measurements with an overall clinical assessment for neuromuscular blockade in ICU patients treated with recommended doses of atracurium or cisatracurium, including patients with acute respiratory disease syndrome (ARDS). METHODS: We prospectively included in two ICUs 119 patients, 94 with ARDS, who required a neuromuscular blockade for more than 24 h...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28099287/anesthetic-outcomes-of-children-with-arthrogryposis-syndromes-no-evidence-of-hyperthermia
#3
Stephen J Gleich, Michael Tien, Darrell R Schroeder, Andrew C Hanson, Randall Flick, Michael E Nemergut
BACKGROUND: Arthrogryposis syndromes are a heterogeneous group of disorders characterized by congenital joint contractures often requiring multiple surgeries during childhood to address skeletal and visceral abnormalities. Previous reports suggest that these children have increased perioperative risk, including hypermetabolic events discrete from malignant hyperthermia, difficult airway management, isolated hyperthermia, and difficult IV line placement. We sought to compare children with arthrogryposis multiplex congenita (AMC) versus the less severe, distal arthrogryposis syndromes (DAS) and to evaluate possible intraoperative hyperthermia of patients with AMC...
January 17, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28097856/-transition-experience-of-patients-with-neuromuscular-disease
#4
Valeria Greif, Florencia Ugo, M Fernanda de Castro Pérez, Julieta Mozzoni, Verónica Aguerre, Milagros Saldías, M Soledad Monges
Neuromuscular diseases are mostly genetic disorders, with chronic and progressive course. Affected people are at high risk of developing physical and emotional disabilities. In the last decades, the advance in technology and science has increased chronic pediatric patients survival rate, thus requiring an ongoing assistance in adult hospitals, making the transition a necessity and a challenge. This article reports the clinical practice designed between Hospital Garrahan and Hospital Ramos Mejía for the transition of 27 adolescents during 2015, setting achievements, findings and challenges resulting from this experience...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28093194/effects-of-neuromuscular-electrical-stimulation-during-hemodialysis-on-peripheral-muscle-strength-and-exercise-capacity-a-randomized-clinical-trial
#5
Ana Karla Vieira Brüggemann, Carolina Luana Mello, Tarcila Dal Pont, Deborah de Camargo Hizume Kunzler, Daniel Fernandes Martins, Franciane Bobinski, Wellington Pereira Yamaguti, Elaine Paulin
OBJECTIVE: To evaluate the effects of neuromuscular electrical stimulation of high and low frequency and intensity, performed during hemodialysis (HD), on physical function and inflammation markers in patients with chronic kidney disease (CKD). DESIGN: Randomized clinical trial SETTING: Hemodialysis clinic. PARTICIPANTS: 51 CKD patients were randomized into blocks of four by means of opaque envelopes. They were divided into a group of high frequency and intensity neuromuscular electrical stimulation (HG) and a group of low frequency and intensity neuromuscular electrical stimulation (LG)...
January 13, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28088797/automated-interpretation-of-pulmonary-function-tests-in-adults-with-respiratory-complaints
#6
Marko Topalovic, Stefan Laval, Jean-Marie Aerts, Thierry Troosters, Marc Decramer, Wim Janssens
BACKGROUND: The use of pulmonary function tests is primarily based on expert opinion and international guidelines. Current interpretation strategies are using predefined cutoffs for the description of a typical pattern. OBJECTIVES: We aimed to explore the predicted disease outcome based on the American Thoracic Society/European Respiratory Society (ATS/ERS) interpreting strategy. Subsequently, we investigated whether an unbiased machine learning framework integrating lung function with clinical variables may provide alternative decision trees resulting in a more accurate diagnosis...
January 12, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28088340/the-role-of-magnetic-resonance-imaging-techniques-in-evaluation-and-management-of-the-idiopathic-inflammatory-myopathies
#7
REVIEW
Jessica Day, Sandy Patel, Vidya Limaye
Magnetic resonance imaging (MRI) is an important tool in the evaluation of neuromuscular disorders. MRI accurately demonstrates muscle oedema, atrophy, subcutaneous pathology and fatty infiltration and also highlights the distribution of muscle involvement. This review examines the role of MRI in evaluation of the idiopathic inflammatory myopathies (IIMs), a heterogeneous group of autoimmune conditions characterised by muscle inflammation and a variety of extra-muscular manifestations. MRI has a clear role in aiding diagnosis of these conditions, guiding muscle biopsy, differentiating subtypes of IIM using a pattern-based approach, and monitoring disease activity in a longitudinal fashion...
November 5, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28088014/reduced-complexity-of-force-and-muscle-activity-during-low-level-isometric-contractions-of-the-ankle-in-diabetic-individuals
#8
E Y Suda, P Madeleine, R P Hirata, A Samani, T T Kawamura, I C N Sacco
BACKGROUND: This study evaluated the structure and amount of variability of surface electromyography (sEMG) patterns and ankle force data during low-level isometric contractions in diabetic subjects with different degrees of neuropathy. METHODS: We assessed 10 control subjects and 38 diabetic patients, classified as absent, mild, moderate, or severe neuropathy, by a fuzzy system based on clinical variables. Multichannel sEMG (64-electrode matrix) of tibialis anterior and gastrocnemius medialis muscles were acquired during isometric contractions at 10%, 20%, and 30% of the maximum voluntary contraction, and force levels during dorsi- and plantarflexion were recorded...
January 4, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28079665/anesthetic-management-of-a-patient-with-antimuscle-specific-kinase-antibody-positive-myasthenia-gravis-undergoing-an-open-cholecystectomy-a-case-report
#9
Masahiko Akatsu, Yukihiro Ikegami, Choichiro Tase, Koichi Nishikawa
Myasthenia gravis (MG) is an autoimmune disease characterized by the production of antibodies against the acetylcholine receptor, muscle-specific kinase (MuSK), or other proteins at the neuromuscular junction. MG with antibodies against MuSK (MuSK-MG) has been described recently. Here, we report the first case of anesthetic management of a patient with MuSK-MG undergoing an open cholecystectomy. In our case, propofol and remifentanil-based anesthesia were used for successful management without using muscle relaxants...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28079615/neuromuscular-weakness-in-chronic-obstructive-pulmonary-disease-chest-wall-diaphragm-and-peripheral-muscle-contributions
#10
Adam Alter, Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
PURPOSE OF REVIEW: Chronic obstructive lung disease affects the lung parenchyma and airways leading to well described effects in respiratory function. This review describes the current knowledge and advances regarding neuromuscular function and chest wall mechanics, which are affected in chronic obstructive pulmonary disease (COPD). RECENT FINDINGS: In COPD, progressive lung hyperinflation becomes constrained by a chest wall with decreasing capacity to expand, resulting in respiratory muscle inefficiency...
January 11, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#11
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#12
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#13
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28075489/cough-augmentation-techniques-for-extubation-or-weaning-critically-ill-patients-from-mechanical-ventilation
#14
REVIEW
Louise Rose, Neill Kj Adhikari, David Leasa, Dean A Fergusson, Douglas McKim
BACKGROUND: There are various reasons why weaning and extubation failure occur, but ineffective cough and secretion retention can play a significant role. Cough augmentation techniques, such as lung volume recruitment or manually- and mechanically-assisted cough, are used to prevent and manage respiratory complications associated with chronic conditions, particularly neuromuscular disease, and may improve short- and long-term outcomes for people with acute respiratory failure. However, the role of cough augmentation to facilitate extubation and prevent post-extubation respiratory failure is unclear...
January 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28074267/reduced-serum-myostatin-concentrations-associated-with-genetic-muscle-disease-progression
#15
Peter M Burch, Oksana Pogoryelova, Joe Palandra, Richard Goldstein, Donald Bennett, Lori Fitz, Michela Guglieri, Chiara Marini Bettolo, Volker Straub, Teresinha Evangelista, Hendrik Neubert, Hanns Lochmüller, Carl Morris
Myostatin is a highly conserved protein secreted primarily from skeletal muscle that can potently suppress muscle growth. This ability to regulate skeletal muscle mass has sparked intense interest in the development of anti-myostatin therapies for a wide array of muscle disorders including sarcopenia, cachexia and genetic neuromuscular diseases. While a number of studies have examined the circulating myostatin concentrations in healthy and sarcopenic populations, very little data are available from inherited muscle disease patients...
January 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28072465/splicing-regulation-and-dysregulation-of-cholinergic-genes-expressed-at-the-neuromuscular-junction
#16
REVIEW
Kinji Ohno, Mohammad Alinoor Rahman, Mohammad Nazim, Farhana Nasrin, Yingni Lin, Jun-Ichi Takeda, Akio Masuda
We humans have evolved by acquiring diversity of alternative RNA metabolisms including alternative means of splicing and transcribing non-coding genes, and not by acquiring new coding genes. Tissue-specific and developmental stage-specific alternative RNA splicing is achieved by tightly regulated spatiotemporal regulation of expressions and activations of RNA-binding proteins that recognize their cognate splicing cis-elements on nascent RNA transcripts. Genes expressed at the neuromuscular junction (NMJ) are also alternatively spliced...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28070671/place-of-death-of-children-with-complex-chronic-conditions-cross-national-study-of-11-countries
#17
Cecilia Håkanson, Joakim Öhlén, Ulrika Kreicbergs, Marylou Cardenas-Turanzas, Donna M Wilson, Martin Loucka, Sandra Frache, Lucia Giovannetti, Wayne Naylor, YongJoo Rhee, Miguel Ruiz Ramos, Joan Teno, Kim Beernaert, Luc Deliens, Dirk Houttekier, Joachim Cohen
: Cross-national understanding of place of death is crucial for health service systems for their provision of efficient and equal access to paediatric palliative care. The objectives of this population-level study were to examine where children with complex chronic conditions (CCC) die and to investigate associations between places of death and sex, cause of death and country. The study used death certificate data of all deceased 1- to 17-year-old children (n = 40,624) who died in 2008, in 11 European and non-European countries...
January 9, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28070484/deep-learning-predictions-of-survival-based-on-mri-in-amyotrophic-lateral-sclerosis
#18
Hannelore K van der Burgh, Ruben Schmidt, Henk-Jan Westeneng, Marcel A de Reus, Leonard H van den Berg, Martijn P van den Heuvel
Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease, with large variation in survival between patients. Currently, it remains rather difficult to predict survival based on clinical parameters alone. Here, we set out to use clinical characteristics in combination with MRI data to predict survival of ALS patients using deep learning, a machine learning technique highly effective in a broad range of big-data analyses. A group of 135 ALS patients was included from whom high-resolution diffusion-weighted and T1-weighted images were acquired at the first visit to the outpatient clinic...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28068376/an-objective-functional-characterisation-of-head-movement-impairment-in-individuals-with-neck-muscle-weakness-due-to-amyotrophic-lateral-sclerosis
#19
Silvia Pancani, Wendy Tindale, Pamela J Shaw, Christopher J McDermott, Claudia Mazzà
BACKGROUND: Neck muscle weakness and head drop are well recognised in patients with Amyotrophic lateral sclerosis (ALS), but an objective characterisation of the consequent head movement impairment is lacking. The aim of this study was to quantitatively characterise head movements in ALS compared to aged matched controls. METHODS: We evaluated two groups, one of thirteen patients with ALS and one of thirteen age-matched controls, during the execution of a series of controlled head movements, performed while wearing two inertial sensors attached on the forehead and sternum, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28067943/gamma-aminobutyric-acid-gaba-modulators-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#20
REVIEW
Andrea Diana, Rita Pillai, Paolo Bongioanni, Aidan G O'Keeffe, Robert G Miller, Dan H Moore
BACKGROUND: Imbalance of gamma aminobutyric acid (GABA) and related modulators has been implicated as an important factor in the pathogenesis of amyotrophic lateral sclerosis (ALS), which is also known as motor neuron disease (MND). In this context, the role and mechanism of action of gabapentin and baclofen have been extensively investigated, although with conflicting results. This is the first systematic review to assess clinical trials of GABA modulators for the treatment of ALS. OBJECTIVES: To examine the efficacy of gabapentin, baclofen, or other GABA modulators in delaying the progression of ALS, and to evaluate adverse effects of these interventions...
January 9, 2017: Cochrane Database of Systematic Reviews
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