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Neuromuscular weakness

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https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#1
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28210905/hypermagnesemia-disturbances-in-rats-no-related-pentadecapeptide-bpc-157-abrogates-l-name-and-l-arginine-worsen
#2
Maria Medvidovic-Grubisic, Vasilije Stambolija, Danijela Kolenc, Jadranka Katancic, Tamara Murselovic, Ivna Plestina-Borjan, Sanja Strbe, Domagoj Drmic, Ivan Barisic, Aleksandra Sindic, Sven Seiwerth, Predrag Sikiric
AIM: Stable gastric pentadecapeptide BPC 157, administered before a high-dose magnesium injection in rats, might be a useful peptide therapy against magnesium toxicity and the magnesium-induced effect on cell depolarization. Moreover, this might be an NO-system-related effect. Previously, BPC 157 counteracts paralysis, arrhythmias and hyperkalaemia, extreme muscle weakness; parasympathetic and neuromuscular blockade; injured muscle healing and interacts with the NOS-blocker and NOS-substrate effects...
February 16, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28194103/reassessment-of-non-monosynaptic-excitation-from-the-motor-cortex-to-motoneurons-in-single-motor-units-of-the-human-biceps-brachii
#3
Tsuyoshi Nakajima, Toshiki Tazoe, Masanori Sakamoto, Takashi Endoh, Satoshi Shibuya, Leonardo A Elias, Rinaldo A Mezzarane, Tomoyoshi Komiyama, Yukari Ohki
Corticospinal excitation is mediated by polysynaptic pathways in several vertebrates, including dexterous monkeys. However, indirect non-monosynaptic excitation has not been clearly observed following transcranial electrical stimulation (TES) or cervicomedullary stimulation (CMS) in humans. The present study evaluated indirect motor pathways in normal human subjects by recording the activities of single motor units (MUs) in the biceps brachii (BB) muscle. The pyramidal tract was stimulated with weak TES, CMS, and transcranial magnetic stimulation (TMS) contralateral to the recording side...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28190439/neurologic-complications-of-polytrauma
#4
R M Jha, L Shutter
Neurologic complications in polytrauma can be classified by etiology and clinical manifestations: neurovascular, delirium, and spinal or neuromuscular problems. Neurovascular complications include ischemic strokes, intracranial hemorrhage, or the development of traumatic arteriovenous fistulae. Delirium and encephalopathy have a reported incidence of 67-92% in mechanically ventilated polytrauma patients. Causes include sedation, analgesia/pain, medications, sleep deprivation, postoperative state, toxic ingestions, withdrawal syndromes, organ system dysfunction, electrolyte/metabolic abnormalities, and infections...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28187801/management-of-acute-neuromuscular-disorders
#5
E F M Wijdicks
Imminent neuromuscular respiratory failure is recognized by shortness of breath, restlessness, and tachycardia and is often followed by tachypnea, constantly interrupting speech, asynchronous breathing and sometimes paradoxical breathing and use of scalene and sternocleidomastoid muscles. Once a patient presents with such a constellation of signs, there are some difficult decisions to be made and include assessment of the severity of respiratory failure and in particular when to intubate. Failure of the patient to manage secretions as a result of oropharyngeal weakness rather than neuromuscular respiratory weakness may be another reason for acute intubation...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28177692/neuromuscular-manifestations-of-work-related-myalgia-in-women-specific-to-extensor-carpi-radialis-brevis
#6
Howard J Green, Don Ranney, Natasha Kyle, David Lounsbury, Ian C Smith, Riley Stewart, Melissa M Thomas, Heather Tick, A Russell Tupling
This study assessed neuromuscular function in the extensor carpi radialis brevis (ECRB) of female workers diagnosed with work-related myalgia (WRM, n=14, age 45.2±1.9 years) and the ECRB of healthy controls (CON, n=10, age 34.6±2.5 years). Groups were compared on voluntary and electrically evoked functional responses at rest (Pre), immediately following a 5 min repetitive task (Post-0) performed at 60% maximal voluntary contraction (MVC), and after 5 min of recovery (Post-5). Despite near complete motor unit activation (MUA)(CON 98±1% vs WRM 99±1%), at Pre, WRM produced 26% less (P<0...
November 24, 2016: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28157077/altered-hip-mechanics-and-patellofemoral-pain-a-review-of-literature
#7
Gholamhassan Mirzaie, Mehrnaz Kajbafvala, Abbas Rahimi, Farideh Dehghan Manshadi, Khosro Khademi Kalantari
Patellofemoral pain (PFP) is a common knee disorder in orthopedic clinics. In the last decade, several investigations have considered the role of proximal factors in addition to local and distal factors in development of PFP. There is a hypothesis which suggests that impaired neuromuscular control and altered hip joint kinematic affect tibiofemoral and patellofemoral biomechanics. Hence, PFP may develop as a result. This article reviews studies assessing the relationship between altered hip mechanics and PFP...
May 5, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28153715/neuromuscular-excitability-changes-produced-by-sustained-voluntary-contraction-and-response-to-mexiletine-in-myotonia-congenita
#8
Federica Ginanneschi, Andrea Mignarri, Sabrina Lucchiari, Gianna Ulzi, Giacomo P Comi, Alessandro Rossi, Maria Teresa Dotti
OBJECTIVE: To investigate the cause of transient weakness in myotonia congenita (MC) and the mechanism of action of mexiletine in reducing weakness. METHODS: The changes in neuromuscular excitability produced by 1min of maximal voluntary contractions (MVC) were measured on the amplitude of compound muscle action potentials (CMAP) in two patients with either recessive or dominant MC, compared to control values obtained in 20 healthy subjects. Measurements were performed again in MC patients after mexiletine therapy...
January 30, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28146008/effect-of-surface-neuromuscular-electrical-stimulation-on-labial-and-lingual-muscles-in-healthy-volunteers
#9
Mohammed F Safi, Wilhelmina Wright-Harp, Jay R Lucker, Joan C Payne
: Neuromuscular electrical stimulation (NMES) may have potential as a treatment for muscle weakness as it may improve strength when applied to the orofacial muscles. However, before incorporating this procedure into clinical practice, research is needed to investigate its effects on lingual and facial muscles of speech and mastication. The aim of this study was to determine what effect(s) submental and labial NMES would have on lingual and labial muscle strength in healthy participants...
January 31, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28139640/evidence-for-actn3-as-a-genetic-modifier-of-duchenne-muscular-dystrophy
#10
Marshall W Hogarth, Peter J Houweling, Kristen C Thomas, Heather Gordish-Dressman, Luca Bello, Elena Pegoraro, Eric P Hoffman, Stewart I Head, Kathryn N North
Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant patients with DMD; both of which are primary outcome measures in clinical trials. We have developed a double knockout mouse model, which also shows reduced muscle strength, but is protected from stretch-induced eccentric damage with age...
January 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28131627/down-regulation-of-kir2-6-channel-by-c-termini-mutation-d252n-and-its-association-with-the-susceptibility-to-thyrotoxic-periodic-paralysis
#11
Rolf Matias Paninka, Estevão Carlos-Lima, Susan C Lindsey, Ilda S Kunii, Magnus R Dias-da-Silva, Manoel Arcisio-Miranda
Inward rectifying potassium - Kir - channels drive the resting potential to potassium reversal potential and, when disrupted, might be related to muscular diseases. Recently, Thyrotoxic Periodic Paralysis (TPP) has emerged as a channelopathy related to mutations in KCNJ18 gene, which encodes Kir2.6 channel. TPP is a neuromuscular disorder characterized by a triad of muscle weakness, hypokalemia, and thyrotoxicosis, the latter being essential for the crisis. Direct sequencing revealed two heterozygous mutations - D252N and R386C - in two TPP patients...
January 25, 2017: Neuroscience
https://www.readbyqxmd.com/read/28120788/a-practical-approach-to-the-patient-presenting-with-dropped-head
#12
Marija Cauchi, Eleanor Marsh
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck extensors and those with increased tone of neck flexors. The most common neuromuscular causes include myasthenia gravis, motor neurone disease and myositis, while neck dystonia secondary to movement disorders can cause an increased tone. Investigations should include blood tests, imaging, muscle biopsy and neurophysiological studies...
December 2016: Practical Neurology
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
#13
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/28079615/neuromuscular-weakness-in-chronic-obstructive-pulmonary-disease-chest-wall-diaphragm-and-peripheral-muscle-contributions
#14
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...
March 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#15
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
#16
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
#17
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
#18
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
#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/28064025/plantar-flexor-muscle-weakness-and-fatigue-in-spastic-cerebral-palsy-patients
#20
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
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