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Neuromuscular weakness

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https://www.readbyqxmd.com/read/28079615/neuromuscular-weakness-in-chronic-obstructive-pulmonary-disease-chest-wall-diaphragm-and-peripheral-muscle-contributions
#1
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
#2
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
#3
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/28075489/cough-augmentation-techniques-for-extubation-or-weaning-critically-ill-patients-from-mechanical-ventilation
#4
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/28068520/impact-loading-following-quadriceps-strength-training-in-individuals-with-medial-knee-osteoarthritis-and-varus-alignment
#5
Crystal O Kean, Rana S Hinman, Tim V Wrigley, Boon-Whatt Lim, Kim L Bennell
BACKGROUND: Greater impact loading at initial contact is postulated to play a role in the progression of osteoarthritis. Quadriceps weakness is common in individuals with knee osteoarthritis and may contribute to high impact loading. The purpose of this study was to examine the effects of quadriceps strengthening on impact loading parameters. METHODS: Data from 97 individuals with knee osteoarthritis who participated in a randomized clinical trial examining effects of a 12-week quadriceps strengthening program was used to conduct this secondary exploratory analysis...
January 4, 2017: Clinical Biomechanics
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
#6
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/28064025/plantar-flexor-muscle-weakness-and-fatigue-in-spastic-cerebral-palsy-patients
#7
Daria Neyroud, Stéphane Armand, Geraldo De Coulon, Sarah R Dias Da Silva, Nicola A Maffiuletti, Bengt Kayser, Nicolas Place
BACKGROUND: Patients with cerebral palsy develop an important muscle weakness which might affect the aetiology and extent of exercise-induced neuromuscular fatigue. AIM: This study evaluated the aetiology and extent of plantar flexor neuromuscular fatigue in patients with cerebral palsy. METHODS: Ten patients with cerebral palsy and 10 age- and sex-matched healthy individuals (∼20 years old, 6 females) performed four 30-s maximal isometric plantar flexions interspaced by a resting period of 2-3s to elicit a resting twitch...
January 5, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28061919/myasthenia-gravis-and-its-aeromedical-implications
#8
Tania Jagathesan, Michael D O'Brien
BACKGROUND: Myasthenia gravis is an autoimmune condition where antibodies form against the acetylcholine receptors at the neuromuscular junction, eventually causing damage to the motor end plate. The clinical features include muscle fatigability as well as ocular, bulbar, and limb weakness, which can have implications on the role of a pilot or air traffic controller. This retrospective study reviewed the United Kingdom Civil Aviation Authority (UK CAA) experience of myasthenia gravis...
January 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28053302/polymyositis-without-beneficial-response-to-steroid-therapy-should-miyoshi-myopathy-be-a-differential-diagnosis
#9
Renata Siciliani Scalco, Paulo José Lorenzoni, David S Lynch, William Alves Martins, Heinz Jungbluth, Ros Quinlivan, Jefferson Becker, Henry Houlden
BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy...
January 5, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28049985/demyelinating-peripheral-neuropathy-due-to-renal-cell-carcinoma
#10
Kenya Nishioka, Motoki Fujimaki, Kazuaki Kanai, Yuta Ishiguro, Tomoko Nakazato, Ryota Tanaka, Kazumasa Yokoyama, Nobutaka Hattori
Renal cell carcinoma (RCC) patients who develop a paraneoplastic syndrome may present with neuromuscular disorders. We herein report the case of a 50-year-old man who suffered from progressive gait disturbance and muscle weakness. The results of a nerve conduction study fulfilled the criteria of chronic inflammatory demyelinating polyneuropathy. An abdominal CT scan detected RCC, the pathological diagnosis of which was clear cell type. After tumor resection and a single course of intravenous immunoglobulin therapy, the patient's symptoms drastically improved over the course of one year...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28044330/conceptual-and-technical-insights-into-the-basis-of-neuromuscular-monitoring
#11
REVIEW
M Naguib, S J Brull, K B Johnson
Unrecognised postoperative residual neuromuscular block remains a frequent occurrence in recovery rooms. Evidence indicates that current practice continues to perpetuate the status quo, in which 10-40% of patients experience postoperative residual weakness. A departure from the current practice requires small efforts on the clinicians' part. This review addresses several selected core questions regarding neuromuscular blockade monitoring and provides a framework to rationally discuss and develop basic guidelines for the use of neuromuscular blocking agents in patient care...
January 2017: Anaesthesia
https://www.readbyqxmd.com/read/28029691/electrophysiological-testing-is-correlated-with-myasthenia-gravis-severity
#12
Alon Abraham, Ari Breiner, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Mylan Ngo, Vera Bril
INTRODUCTION: Electrophysiological studies play an important role in the diagnosis of myasthenia gravis (MG). OBJECTIVES: To explore the correlation of jitter and decrement with various clinical symptoms and signs and disease severity. METHODS: We performed a retrospective chart review of 75 MG patients who attended the neuromuscular clinic from April 2013 to May 2014. We compared clinical characteristics between patients with high jitter (>100 µs) and decrement (>10%), and patients with lower values to explore the correlations and optimal thresholds of jitter and decrement for different clinical features...
December 28, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28025488/toxicity-and-physiological-actions-of-carbonic-anhydrase-inhibitors-to-aedes-aegypti-and-drosophila-melanogaster
#13
Sheena A M Francis, Jennina Taylor-Wells, Aaron D Gross, Jeffrey R Bloomquist
The physiological role of carbonic anhydrases in pH and ion regulation is crucial to insect survival. We examined the toxic and neurophysiological effects of five carbonic anhydrase inhibitors (CAIs) against Aedes aegypti. The 24 h larvicidal toxicities followed this rank order of potency: dichlorphenamide > methazolamide > acetazolamide = brinzolamide = dorzolamide. Larvicidal activity increased modestly in longer exposures, and affected larvae showed attenuated responses to probing without overt tremors, hyperexcitation, or convulsions...
December 22, 2016: Insects
https://www.readbyqxmd.com/read/28011929/correlation-between-pabpn1-genotype-and-disease-severity-in-oculopharyngeal-muscular-dystrophy
#14
Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelievre, Sophie Perie, Jean Pouget, Bruno Eymard
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. To do this, we characterized the distribution of the genotypes as well as their correlation with age at diagnosis and phenotypical features in a large cohort of heterozygous and homozygous patients with OPMD in France with a confirmed molecular diagnosis of PABPN1...
December 23, 2016: Neurology
https://www.readbyqxmd.com/read/27999675/mechanical-insufflation-exsufflation-for-an-individual-with-duchenne-muscular-dystrophy-and-a-lower-respiratory-infection
#15
Emma Koenig, Bhajan Singh, Jamie Wood
Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy associated with progressive muscle weakness and wasting, loss of ambulation, respiratory insufficiency, weak cough, repeated respiratory infections, and ultimately death from respiratory failure in early adulthood. Mechanical insufflation-exsufflation (MI-E) devices, such as the CoughAssist®, are used in individuals with neuromuscular weakness to augment cough and help clear secretions; however, there is no consensus on the optimal treatment regimen...
March 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/27997686/electrophysiological-and-neuromuscular-stability-of-persons-with-chronic-inflammatory-demyelinating-polyneuropathy-cidp
#16
Kevin J Gilmore, Matti D Allen, Timothy J Doherty, Kurt Kimpinski, Charles L Rice
OBJECTIVE: We assessed motor unit (MU) properties and neuromuscular stability in the tibialis anterior (TA) of CIDP patients using decomposition-based quantitative electromyography (DQEMG). METHODS: Dorsiflexion strength was assessed, and surface and concentric needle electromyography (EMG) were sampled from the TA. Estimates of MU numbers were derived using DQEMG and spike-triggered averaging. Neuromuscular transmission stability was assessed from concentric needle-detected motor unit potentials (MUPs)...
December 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27986526/nontraumatic-isolated-posterior-interosseous-nerve-palsy-reinterpretation-of-electrodiagnostic-studies-and-mris
#17
Andrés A Maldonado, Kimberly K Amrami, Michelle L Mauermann, Robert J Spinner
INTRODUCTION: Different hypotheses have been proposed for the pathophysiology of posterior interosseous nerve (PIN) palsy, namely compression, nerve inflammation, and fascicular constriction. We hypothesized that critical reinterpretation of electrodiagnostic (EDX) studies and MRIs of patients with a diagnosis of PIN palsy could provide insight into the pathophysiology and treatment. MATERIALS AND METHODS: We retrospectively reviewed patients with a diagnosis of nontraumatic PIN palsy and an upper extremity EDX and MRI...
November 27, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27976420/myopathology-in-congenital-myopathies
#18
Caroline A Sewry, Carina Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterised by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth whilst others have a milder, moderately progressive or non-progressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner or arise de novo...
December 15, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27955984/lower-extremity-weakness-in-a-teenager-due-to-thyrotoxic-periodic-paralysis
#19
Matthew D Thornton
BACKGROUND: Thyrotoxic hypokalemic paralysis is the hallmark of thyrotoxic periodic paralysis (TPP). TPP is a potentially deadly complication of hyperthyroidism that occurs because of rapid and dramatic intracellular shift of potassium. This transference results in severe hypokalemia and clinically manifests itself as muscle weakness or paralysis. This condition predominantly affects males of Asian descent, and its presentation can range from mild to severe, as seen in our case. CASE REPORT: We present the case of a 15-year-old Asian-American male who presented to a tertiary-care pediatric emergency department complaining of generalized weakness and flaccid paralysis of his lower extremities...
December 9, 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27940276/maximal-inspiratory-pressure-does-the-choice-of-reference-values-actually-matter
#20
Antenor Rodrigues, Marianne L Da Silva, Danilo C Berton, Gerson Cipriano, Fabio Pitta, Denis E O'Donnell, J Alberto Neder
BACKGROUND: Single-point measurements of maximal inspiratory pressure (MIP) are frequently used to suggest muscle weakness in clinical practice. Although there is a large variability in "mean" predicted MIP depending on the chosen reference values, it remains unclear whether those discrepancies actually impact on the prevalence of weakness, i.e., MIP below the lower limit of normal. METHODS: 1729 subjects (50.1% males, aged 20 to 94) who underwent MIP measurements in a clinical laboratory comprised the study group...
December 8, 2016: Chest
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