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Neuromuscular diseases

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https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#1
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448298/anesthetic-consideration-for-neuromuscular-diseases
#2
Jeffery A Katz, Glenn S Murphy
PURPOSE OF REVIEW: The aim of this review is to examine data relating to perioperative management of the patient with neuromuscular disorders RECENT FINDINGS: Patients with pre-existing neuromuscular disorders are at risk for a number of postoperative complications that are related to anesthetic drugs that are administered intraoperatively. Careful preoperative assessment is necessary to reduce morbidity and mortality. In particular, the risk of postoperative respiratory failure and need for long-term ventilation should be reviewed with patients...
April 26, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28448001/repeated-measurement-of-respiratory-muscle-activity-and-ventilation-in-mouse-models-of-neuromuscular-disease
#3
Victoria N Jensen, Shannon H Romer, Sarah M Turner, Steven A Crone
Accessory respiratory muscles help to maintain ventilation when diaphragm function is impaired. The following protocol describes a method for repeated measurements over weeks or months of accessory respiratory muscle activity while simultaneously measuring ventilation in a non-anesthetized, freely behaving mouse. The technique includes the surgical implantation of a radio transmitter and the insertion of electrode leads into the scalene and trapezius muscles to measure the electromyogram activity of these inspiratory muscles...
April 17, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447930/a-novel-and-simple-method-for-tracheal-intubation-in-a-swine-model-preparing-for-the-era-of-xenotransplantation
#4
Hyub Huh, Hyong Hwan Lim, Ji Yeong Kim, Hye Won Shin, Hae Ja Lim, Suk Min Yoon, Seung Zhoo Yoon, Hye Won Lee
OBJECTIVES: Organ transplant in humans is an established therapy for a variety of end-stage organ diseases. However, due to organ shortages and lack of donors, the need for xenotransplant has gradually increased. Xenotransplantation has great potential to solve many of the problems facing organ transplantation. Pigs are being developed as xenogeneic organ donors for use in humans. In this study, we propose a novel and simple method for tracheal intubation in a swine model using neuromuscular blocking agents and laryngeal mask airway...
April 27, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28446779/functional-neuronal-differentiation-of-injury-induced-muscle-derived-stem-cell-like-cells-with-therapeutic-implications
#5
Kinga Vojnits, Haiying Pan, Xiaojing Dai, Hao Sun, Qingchun Tong, Radbod Darabi, Johnny Huard, Yong Li
Mammalian skeletal muscles contain a number of heterogeneous cell populations. Our previous study characterized a unique population of myogenic lineage stem cells that can be isolated from adult mammalian skeletal muscles upon injury. These injury-induced muscle-derived stem cell-like cells (iMuSCs) displayed a multipotent state with sensitiveness and strong migration abilities. Here, we report that these iMuSCs have the capability to form neurospheres that represent multiple neural phenotypes. The induced neuronal cells expressed various neuron-specific proteins, their mRNA expression during neuronal differentiation recapitulated embryonic neurogenesis, they generated action potentials, and they formed functional synapses in vitro...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28446219/the-burden-epidemiology-costs-and-treatment-for-duchenne-muscular-dystrophy-an-evidence-review
#6
REVIEW
S Ryder, R M Leadley, N Armstrong, M Westwood, S de Kock, T Butt, M Jain, J Kleijnen
BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidemiology, illness costs and treatment patterns of DMD. This systematic review adhered to published methods with information also sought from the web and contacting registries. Searches were carried out from 2005 to June 2015. The population of interest was individuals with clearly defined DMD or their carers...
April 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28443623/novel-slc25a32-mutation-in-a-patient-with-a-severe-neuromuscular-phenotype
#7
Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, Alexandra T M Hendrickx, Ralph W Gottschalk, Janneke G J Hoeijmakers, Daphna D Habets, Jörgen Bierau, Kees G Schoonderwoerd, Hubert J M Smeets
In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes...
April 26, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28442746/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#8
Valentina Cappello, Laura Marchetti, Paola Parlanti, Silvia Landi, Ilaria Tonazzini, Marco Cecchini, Vincenzo Piazza, Mauro Gemmi
Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells. Despite the wide use of Twitcher mice as experimental model for KD, the ultrastructure of this model is partial and mainly addressing peripheral nerves. More details are requested to elucidate the basis of the motor defects, which are the first to appear during KD onset. Here we use transmission electron microscopy (TEM) to focus on the alterations produced by KD in the lower motor system at postnatal day 15 (P15), a nearly asymptomatic stage, and in the juvenile P30 mouse...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28441759/synaptic-homeostasis-and-its-immunological-disturbance-in-neuromuscular-junction-disorders
#9
REVIEW
Masaharu Takamori
In the neuromuscular junction, postsynaptic nicotinic acetylcholine receptor (nAChR) clustering, trans-synaptic communication and synaptic stabilization are modulated by the molecular mechanisms underlying synaptic plasticity. The synaptic functions are based presynaptically on the active zone architecture, synaptic vesicle proteins, Ca(2+) channels and synaptic vesicle recycling. Postsynaptically, they are based on rapsyn-anchored nAChR clusters, localized sensitivity to ACh, and synaptic stabilization via linkage to the extracellular matrix so as to be precisely opposed to the nerve terminal...
April 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28441316/hemolysis-following-intraoperative-cell-salvage-replacement-in-a-scoliosis-patient-with-sickle-cell-trait-a-case-report
#10
Daniel You, Alejandro Peiro Garcia, Fabio Ferri-de-Barros, David Parsons
STUDY DESIGN: Case Report. OBJECTIVE: To describe a novel presentation of acute renal failure associated with hemolysis following intraoperative cell salvage (ICS) in a neuromuscular scoliosis patient with sickle cell trait (SCT). SUMMARY OF BACKGROUND DATA: Hemolysis associated acute renal failure following ICS in patients with SCT has not been previously reported. Sickle cell disease is regarded as a relative contraindication for ICS due to the risk of red blood cell sickling in the hypoxic cell saver reservoir...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28440921/pediatric-pulmonology-year-in-review-2016-part-1
#11
REVIEW
David J Birnkrant, Jane B Black, Ignacio E Tapia, Thomas Nicolai, William A Gower, Terry L Noah
Pediatric Pulmonology continues to publish research and clinical topics related to the entire range of children's respiratory disorders. As we have done annually in recent years, we here summarize the past year's publications in our major topic areas, as well as selected literature in these areas from other core journals relevant to our discipline. This review (Part 1) covers selected articles on sleep, diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases...
April 25, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28440223/structural-insights-into-the-molecular-mechanisms-of-myasthenia-gravis-and-their-therapeutic-implications
#12
Kaori Noridomi, Go Watanabe, Melissa N Hansen, Gye Won Han, Lin Chen
The nicotinic acetylcholine receptor (nAChR) is a major target of autoantibodies in myasthenia gravis (MG), an autoimmune disease that causes neuromuscular transmission dysfunction. Despite decades of research, the molecular mechanisms underlying MG have not been fully elucidated. Here, we present the crystal structure of the nAChR α1 subunit bound by the Fab fragment of mAb35, a reference monoclonal antibody that causes experimental MG and competes with ~65% of antibodies from MG patients. Our structures reveal for the first time the detailed molecular interactions between MG antibodies and a core region on nAChR α1...
April 25, 2017: ELife
https://www.readbyqxmd.com/read/28437378/risk-factors-for-pediatric-extubation-failure-the-importance-of-respiratory-muscle-strength
#13
Robinder G Khemani, Tro Sekayan, Justin Hotz, Rutger C Flink, Gerrard F Rafferty, Narayan Iyer, Christopher J L Newth
OBJECTIVE: Respiratory muscle weakness frequently develops during mechanical ventilation, although in children there are limited data about its prevalence and whether it is associated with extubation outcomes. We sought to identify risk factors for pediatric extubation failure, with specific attention to respiratory muscle strength. DESIGN: Secondary analysis of prospectively collected data. SETTING: Tertiary care PICU. PATIENTS: Four hundred nine mechanically ventilated children...
April 21, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28435672/tele-medicine-in-respiratory-diseases
#14
REVIEW
Nicolino Ambrosino, Dewi Nurul Makhabah, Yusup Subagio Sutanto
Information and Communication Technologies applied to health care and advances in sensor and data transmission technology allowed tele-medicine based programs of care also for patients with respiratory diseases. Different sensors, transmission devices and interventions are used in tele-medicine for some indications. Patients suffering from Chronic Obstructive Pulmonary Disease, asthma, neuromuscular diseases, ventilator assisted individuals and those undergoing pulmonary rehabilitation programs may benefit from this approach...
2017: Multidisciplinary Respiratory Medicine
https://www.readbyqxmd.com/read/28434551/neuromuscular-fatigue-during-exercise-methodological-considerations-etiology-and-potential-role-in-chronic-fatigue
#15
REVIEW
Rosie Twomey, Saied Jalal Aboodarda, Renata Kruger, Susan Nicole Culos-Reed, John Temesi, Guillaume Y Millet
The term fatigue is used to describe a distressing and persistent symptom of physical and/or mental tiredness in certain clinical populations, with distinct but ultimately complex, multifactorial and heterogenous pathophysiology. Chronic fatigue impacts on quality of life, reduces the capacity to perform activities of daily living, and is typically measured using subjective self-report tools. Fatigue also refers to an acute reduction in the ability to produce maximal force or power due to exercise. The classical measurement of exercise-induced fatigue involves neuromuscular assessments before and after a fatiguing task...
April 20, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28434158/physical-performance-in-newly-diagnosed-hypothyroidism-a-pilot-study
#16
D Gallo, E Piantanida, G Veronesi, A Lai, L Sassi, V Lombardi, E Masiello, P Premoli, E Bianconi, C Cusini, S Rosetti, M L Tanda, A Toniolo, M Ferrario, L Bartalena
OBJECTIVE: Hypothyroidism is complicated by neuromuscular symptoms (myalgias, slowness of movements, and tiredness) and signs (easy fatigability and cramps), which may have a negative impact on general well-being and quality of life. In a pilot, prospective, controlled study, we investigated the features of muscle dysfunction in hypothyroidism by disease questionnaire, biochemical measures, and physical performance tests. MATERIALS AND METHODS: Fifty-seven consecutive patients with newly diagnosed hypothyroidism were enrolled, 27 subclinical (S-Hypo) and 30 overt (O-Hypo)...
April 22, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28432901/neuromuscular-rate-of-force-development-deficit-in-parkinson-disease
#17
Kelley G Hammond, Ronald F Pfeiffer, Mark S LeDoux, Brian K Schilling
BACKGROUND: Bradykinesia and reduced neuromuscular force exist in Parkinson disease. The interpolated twitch technique has been used to evaluate central versus peripheral manifestations of neuromuscular strength in healthy, aging, and athletic populations, as well as moderate to advanced Parkinson disease, but this method has not been used in mild Parkinson disease. This study aimed to evaluate quadriceps femoris rate of force development and quantify potential central and peripheral activation deficits in individuals with Parkinson disease...
April 11, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28432606/neuromuscular-electrostimulation-a-new-therapeutic-option-to-improve-radio-cephalic-arteriovenous-fistula-maturation-in-end-stage-chronic-kidney-disease-patients
#18
Lucia Martinez, Vicent Esteve, Montserrat Yeste, Vicent Artigas, Secundino Llagostera
BACKGROUND: Radio-cephalic arteriovenous fistula (RCAVF) is the gold standard vascular access for end-stage chronic kidney disease patients. Exercises after arteriovenous fistula (AVF) creation improve maturation. No articles are published regarding neuromuscular electrostimulation (NMES) in AVF maturation. OBJECTIVES: To assess the usefulness of a NMES programme on RCAVF maturation process. METHODS: An 8-week single-centre prospective study...
April 21, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28431606/screening-for-cognitive-and-behavioural-impairment-in-amyotrophic-lateral-sclerosis-frequency-of-abnormality-and-effect-on-survival
#19
Zhouwei Xu, Ashwag Rafea S Alruwaili, Robert David Henderson, Pamela Ann McCombe
OBJECTIVE: To screen for cognitive and behavioural impairment in people with amyotrophic lateral sclerosis (ALS) and controls with neuromuscular disease and to correlate these with clinical features. METHODS: 108 people with ALS and 60 controls with other neuromuscular diseases were recruited and assessed with the Addenbrooke's cognitive examination-III (ACE-III), the frontal assessment battery (FAB), and the executive function component of the Edinburgh cognitive and behavioural ALS screen (ECAS)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431604/a-reappraisal-of-diagnostic-tests-for-myasthenia-gravis-in-a-large-asian-cohort
#20
Yew Long Lo, Raymond P Najjar, Kelvin Y Teo, Sharon L Tow, Jing Liang Loo, Dan Milea
BACKGROUND: Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of bodily skeletal muscles. Office-based diagnostic tests such as repetitive nerve stimulation (RNS), single fiber electromyography (SFEMG), and the ice test, are used to refine the differential clinical diagnosis of this disease. Evaluating the clinical sensitivity and specificity of these tests, however, may be confounded by lack of a gold standard, non-blinding, incorporation bias, use of non-representative populations and retrospective data...
May 15, 2017: Journal of the Neurological Sciences
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