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https://www.readbyqxmd.com/read/27912998/electrodiagnosis-in-cancer-rehabilitation
#1
REVIEW
Christian M Custodio
With numerous advancements in early detection and multimodal therapy, cancer has become a chronic disease. As the number of cancer survivors continues to increase, physiatrists and other neuromuscular disease specialists are more likely to encounter individuals with residual impairments, disabilities, and/or handicaps resulting from cancer or related treatments. The patient with cancer is especially prone to injury directed at the peripheral nervous system at multiple anatomic levels. Electrodiagnosis is an invaluable tool in the evaluation of neuromuscular disorders in this patient population...
February 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#2
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911334/matrix-metalloproteinases-and-tissue-inhibitor-of-metalloproteinases-in%C3%A2-inflammation-and-fibrosis-of-skeletal-muscles
#3
Hala S Alameddine, Jennifer E Morgan
In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including neuromuscular diseases. This has opened perspectives for the use of MMPs' overexpression to improve the efficiency of cell therapy in muscular dystrophies and resolve fibrosis. Alternatively, inhibition of individual MMPs in animal models of muscular dystrophies has provided evidence of beneficial, dual or adverse effects on muscle morphology or function...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27906462/histopathological-evaluation-of-skeletal-muscle-with-specific-reference-to-mouse-models-of-muscular-dystrophy
#4
Rebecca L Terry, Dominic J Wells
The muscular dystrophies are a diverse group of degenerative diseases for which many mouse models are available. These models are frequently used to assess potential therapeutic interventions and histological evaluation of multiple muscles is an important part of this assessment. Histological evaluation is especially useful when combined with tests of muscle function. This unit describes a protocol for necropsy, processing, cryosectioning, and histopathological evaluation of murine skeletal muscles, which is applicable to both models of muscular dystrophy and other neuromuscular conditions...
December 1, 2016: Current Protocols in Mouse Biology
https://www.readbyqxmd.com/read/27906081/vacht-overexpression-increases-acetylcholine-at-the-synaptic-cleft-and-accelerates-aging-of-neuromuscular-junctions
#5
Satoshi Sugita, Leland L Fleming, Caleb Wood, Sydney K Vaughan, Matheus P S M Gomes, Wallace Camargo, Ligia A Naves, Vania F Prado, Marco A M Prado, Cristina Guatimosim, Gregorio Valdez
BACKGROUND: Cholinergic dysfunction occurs during aging and in a variety of diseases, including amyotrophic lateral sclerosis (ALS). However, it remains unknown whether changes in cholinergic transmission contributes to age- and disease-related degeneration of the motor system. Here we investigated the effect of moderately increasing levels of synaptic acetylcholine (ACh) on the neuromuscular junction (NMJ), muscle fibers, and motor neurons during development and aging and in a mouse model for amyotrophic lateral sclerosis (ALS)...
October 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27901257/brazilian-portuguese-translation-cross-cultural-adaptation-and-validation-of-the-myasthenia-gravis-composite-scale-a-multicentric-study
#6
Ezequiel Fernandes Oliveira, Valéria Cavalcante Lima, Eduardo Araujo Perez, Melissa Nunes Polaro, Berenice Cataldo Oliveira Valério, João R Pereiro, Sergio Roberto Nacif, Claudia Santos Oliveira, Acary Souza Bulle Oliveira, Luis Vicente Franco Oliveira
Objective: To perform the translation, cultural adaptation and validation of the Myasthenia Gravis Composite (MGC) scale in Brazil. Methods: The study was conducted at three neuromuscular disease research centers in accordance with the international ethical standards, following a multi-modal approach and was conducted in three steps consisting of translation, cultural adaptation, and validation according to international guidelines. The final version of the MGC was applied in a sample of 27 MG patients and the total score was compared to a Portuguese version of the MG-QOL-15...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#7
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27899532/long-term-management-for-ventilator-assisted-children-in-hong-kong-2-decades-experience
#8
Shuk-Kuen Chau, Ada Wing-Yan Yung, So-Lun Lee
BACKGROUND: The population of children receiving long-term mechanical ventilation is growing worldwide, but only limited data exist in Asian regions. The objective of the study was to review the management of these children in Hong Kong over the past 2 decades. METHODS: This was a retrospective cohort study. Hospital records from subjects receiving mechanical ventilation for >3 months were retrieved. Demographic characteristics and medical information of subjects (≤21 y old) under the care of the ventilator program at the Duchess of Kent Children's Hospital between 1997 and 2015 were reviewed...
November 29, 2016: Respiratory Care
https://www.readbyqxmd.com/read/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#9
Claire Allen, Russell Perkins, Bernd Schwahn
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetically determined disorder of mitochondrial fatty acid oxidation. Decompensation can result in hypoglycemia, seizures, coma, and death but may be prevented by ensuring glycogen stores do not become depleted. Perioperative care is of interest as surgery, fasting, and infection may all trigger decompensation and the safety of anesthetic agents has been questioned. Current guidelines from the British Inherited Metabolic Disease Group advise on administering fluid containing 10% glucose during the perioperative period...
November 29, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27893480/high-speed-resistance-training-modifies-load-velocity-and-load-power-relationships-in-parkinson-s-disease
#10
Meng Ni, Joseph F Signorile
Muscle power is a major neuromuscular factor affecting motor function and independence in patients with Parkinson's disease; and it is commonly targeted using high-speed exercise. This study examined the changes in velocities (Vpp) and percent loads (%1RMpp) at peak power, as well as load-velocity (L-V) and load-power (L-P) relationships, resulting from resistance training due to exercise choice and loading in older Parkinson's patients. Fourteen older adults with mild to moderate Parkinson's disease participated in a 12-week randomized controlled power training trial...
November 16, 2016: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/27893014/durability-of-the-rituximab-response-in-acetylcholine-receptor-autoantibody-positive-myasthenia-gravis
#11
Kimberly R Robeson, Aditya Kumar, Benison Keung, Daniel B DiCapua, Emily Grodinsky, Huned S Patwa, Panos A Stathopoulos, Jonathan M Goldstein, Kevin C O'Connor, Richard J Nowak
Importance: Myasthenia gravis (MG), an autoimmune disorder of neuromuscular transmission, is treated by an array of immunotherapeutics, many of which are nonspecific. Even with current therapies, a subset of patients has medically refractory MG. The benefits of B-cell-targeted therapy with rituximab have been observed in MG; however, the duration of these benefits after treatment is unclear. Objective: To evaluate the durability of response to rituximab in the treatment of acetylcholine receptor autoantibody-positive (AChR+) generalized MG...
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27891608/compensatory-axon-sprouting-for-very-slow-axonal-die-back-in-a-transgenic-model-of-spinal-muscular-atrophy-type-iii
#12
Esther Udina, Charles Putman, Luke Harris, N Tyreman, Victoria Cook, Tessa Gordon
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and is the leading genetic cause of infantile death. Patients lack the SMN1 gene with the severity of the disease depending on the number of copies of the highly homologous SMN2 gene. Although motoneuron death in the Smn+/- transgenic mouse model of mildest form of SMA, SMA type III, has been reported, we have used retrograde tracing of sciatic and femoral motoneurons in the hindlimb with recording of muscle and motor unit isometric forces to count the number of motoneurons with intact neuromuscular connections...
November 28, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27890878/prevalence-of-electrocardiographic-abnormalities-in-patients-with-myasthenia-gravis
#13
Jun Tsugawa, Masahiro Ogawa, Shinji Ouma, Jiro Fukae, Yoshio Tsuboi
OBJECTIVE: Myasthenia gravis (MG) is an immunological disorder of the neuromuscular junction, characterized by easy fatigability and weakness of the skeletal muscles. However, it has sometimes been reported that heart diseases including cardiomyopathies leading to sudden death have been observed in patients with MG. We studied the prevalence of electrocardiographic (ECG) abnormalities and heart disease in patients newly diagnosed with MG who had not received immunotherapy. METHODS: Fifty-three patients with MG were enrolled in our study...
November 25, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27889925/deletion-of-the-vesicular-acetylcholine-transporter-from-pedunculopontine-laterodorsal-tegmental-neurons-modifies-gait
#14
Helena Janickova, Kaie Rosborough, Mohammed Al-Onaizi, Ornela Kljakic, Monica S Guzman, Robert Gros, Marco A M Prado, Vania F Prado
Postural instability and gait disturbances, common disabilities in the elderly and frequently present in Parkinson's disease (PD), have been suggested to be related to dysfunctional cholinergic signalling in the brainstem. We investigated how long-term loss of cholinergic signalling from mesopontine nuclei influence motor behaviours. We selectively eliminated the vesicular acetylcholine transporter (VAChT) in pedunculopontine and laterodorsal tegmental nuclei cholinergic neurons to generate mice with selective mesopontine cholinergic deficiency (VAChT(E)(n1-Cre-flox/flox) )...
November 27, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27889897/growth-differentiation-factor-15-is-a-novel-diagnostic-biomarker-of-mitochondrial-diseases
#15
Xinbo Ji, Lizhen Zhao, Kunqian Ji, Yuying Zhao, Wei Li, Rui Zhang, Ying Hou, Jianqiang Lu, Chuanzhu Yan
The present study aimed to investigate whether serum growth differentiation factor 15 concentration is a valuable and reliable diagnostic biomarker of mitochondrial diseases. We examined consecutive patients with mitochondrial diseases, in comparison with patients with non-mitochondrial disease neuromuscular disorders and healthy controls. The serum concentrations of growth differentiation factor 15 were measured by ELISA, and compared with those of FGF21, lactate, and creatine kinase. We also evaluated the correlations between growth differentiation factor 15 concentrations and the Newcastle Mitochondrial Disease Adult Scale, numbers of ragged-red fibers, and COX-negative fibers in the biopsied muscles...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27882697/biomechanical-properties-of-an-implanted-engineered-tubular-gut-sphincter-complex
#16
Elie Zakhem, Mostafa El Bahrawy, Giuseppe Orlando, Khalil N Bitar
Neuromuscular diseases of the gut alter the normal motility patterns. Although surgical intervention remains the standard treatment, preservation of the sphincter attached to the rest of the gut is challenging. The present study aimed to evaluate a bioengineered gut-sphincter complex following its subcutaneous implantation for 4 weeks in rats. Engineered innervated human smooth muscle sheets and innervated human sphincters with a predefined alignment were placed around tubular scaffolds to create a gut-sphincter complex...
November 23, 2016: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/27882347/ml372-blocks-smn-ubiquitination-and-improves-spinal-muscular-atrophy-pathology-in-mice
#17
Mahlet B Abera, Jingbo Xiao, Jonathan Nofziger, Steve Titus, Noel Southall, Wei Zheng, Kasey E Moritz, Marc Ferrer, Jonathan J Cherry, Elliot J Androphy, Amy Wang, Xin Xu, Christopher Austin, Kenneth H Fischbeck, Juan J Marugan, Barrington G Burnett
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and one of the leading inherited causes of infant mortality. SMA results from insufficient levels of the survival motor neuron (SMN) protein, and studies in animal models of the disease have shown that increasing SMN protein levels ameliorates the disease phenotype. Our group previously identified and optimized a new series of small molecules, with good potency and toxicity profiles and reasonable pharmacokinetics, that were able to increase SMN protein levels in SMA patient-derived cells...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27881628/normative-reference-values-for-strength-and-flexibility-of-1-000-children-and-adults
#18
Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns
OBJECTIVE: To establish reference values for isometric strength of 12 muscle groups and flexibility of 13 joint movements in 1,000 children and adults and investigate the influence of demographic and anthropometric factors. METHODS: A standardized reliable protocol of hand-held and fixed dynamometry for isometric strength of ankle, knee, hip, elbow, and shoulder musculature as well as goniometry for flexibility of the ankle, knee, hip, elbow, shoulder, and cervical spine was performed in an observational study investigating 1,000 healthy male and female participants aged 3-101 years...
November 23, 2016: Neurology
https://www.readbyqxmd.com/read/27881401/alterations-of-colonic-function-in-the-winnie-mouse-model-of-spontaneous-chronic-colitis
#19
Ainsley M Robinson, Ahmed A Rahman, Simona Elisa Carbone, Sarron Randall-Demllo, Rhiannon Filippone, Joel Charles Bornstein, Rajaraman Eri, Kulmira Nurgali
The Winnie mouse, carrying a missense mutation in Muc2, is a model for chronic intestinal inflammation demonstrating symptoms closely resembling inflammatory bowel disease (IBD). Alterations to the immune environment, morphological structure and innervation of Winnie mouse colon have been identified; however analyses of intestinal transit and colonic functions have not been conducted. In this study, we investigated in vivo intestinal transit in radiographic studies and in vitro motility of the isolated colon in organ bath experiments...
November 23, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27878516/axonal-excitability-in-amyotrophic-lateral-sclerosis-axonal-excitability-in-als
#20
REVIEW
Susanna B Park, Matthew C Kiernan, Steve Vucic
Axonal excitability testing provides in vivo assessment of axonal ion channel function and membrane potential. Excitability techniques have provided insights into the pathophysiological mechanisms underlying the development of neurodegeneration and clinical features of amyotrophic lateral sclerosis (ALS) and related neuromuscular disorders. Specifically, abnormalities of Na(+) and K(+) conductances contribute to development of membrane hyperexcitability in ALS, thereby leading to symptom generation of muscle cramps and fasciculations, in addition to promoting a neurodegenerative cascade via Ca(2+)-mediated processes...
November 22, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
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