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https://www.readbyqxmd.com/read/28635482/diagnosis-and-management-of-myasthenia-gravis
#1
Christopher Barber
Myasthenia gravis is a rare long-term neurological condition that is characterised by fluctuating skeletal muscle weakness and fatigue, as well as respiratory difficulties. It is both an acquired autoimmune disease and a chronic neuromuscular disorder. Because of its rarity, myasthenia gravis is relatively unknown and may be unfamiliar to many nurses. While there are various types of myasthenia, this article focuses on myasthenia gravis, exploring its symptoms, diagnosis and treatment, and examining the nurse's role in managing the condition...
June 21, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28635376/advances-in-understanding-the-role-of-disease-associated-proteins-in-spinal-muscular-atrophy
#2
Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Brunhilde Wirth
Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by alpha motor neuron loss in the spinal cord due to reduced survival of motor neuron (SMN) protein level. While the genetic basis of SMA is well described, the specific molecular pathway underlying SMA is still not fully understood. Areas covered: This review discusses the recent advancements in understanding the molecular pathways in SMA using different omics approaches and genetic modifiers identified in both vertebrate and invertebrate systems...
June 21, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28633151/age-based-normative-measurements-of-the-pediatric-pelvis
#3
Matthew E Oetgen, Steven Andelman, Benjamin D Martin
OBJECTIVES: Pediatric pelvic trauma is associated with high rates of morbidity and mortality. Current classifications do not take into account age-dependent quantitative differences of the pediatric pelvis making accurate diagnosis of pathologic diastasis of the pubic symphysis, sacroiliac (SI) joints, and triradiate cartilage difficult. The purpose of this study was to establish age-based normative values for the width of the pubic symphysis, SI joints, and the triradiate cartilage of the pediatric pelvis...
July 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28632945/developing-multidisciplinary-clinics-for-neuromuscular-care-and-research
#4
REVIEW
Sabrina Paganoni, Katie Nicholson, Fawn Leigh, Kathryn Swoboda, David Chad, Kristin Drake, Kellen Haley, Merit Cudkowicz, James D Berry
Multidisciplinary care is considered the standard-of-care for both adult and pediatric neuromuscular disorders and has been associated with improved quality of life, resource utilization, and health outcomes. Multidisciplinary care is delivered in multidisciplinary clinics that coordinate care across multiple specialties reducing travel burden and streamlining care. In addition, multidisciplinary care setting facilitates the integration of clinical research, patient advocacy, and care innovation (e.g., TeleHealth)...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28630297/correction-for-khan-et-al-sympathetic-innervation-controls-homeostasis-of-neuromuscular-junctions-in-health-and-disease
#5
(no author information available yet)
No abstract text is available yet for this article.
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28630131/-it-s-a-hard-conversation-to-have-healthcare-professionals-views-concerning-advance-care-discussions-with-young-people-affected-by-life-limiting-neuromuscular-diseases-an-interview-study
#6
Andy Hiscock, Stephen Barclay
OBJECTIVE: Life-limiting neuromuscular disease, such as some of the muscular dystrophies, are often diagnosed in early childhood: when death comes, commonly in the second or third decade of life, patients rarely have advance care plans in place or documented end-of-life care preferences. There is very limited literature concerning the discussions about end-of-life plans healthcare professionals have with young people affected by life-limiting neuromuscular diseases. The aim of this study was to investigate the views and experiences of healthcare professionals concerning having discussions about advance care plans and end-of-life care with teenagers and young adult patients affected by life-limiting neuromuscular diseases...
June 19, 2017: BMJ Supportive & Palliative Care
https://www.readbyqxmd.com/read/28627356/aquatic-therapy-for-children-with-duchenne-muscular-dystrophy-a-pilot-feasibility-randomised-controlled-trial-and-mixed-methods-process-evaluation
#7
Daniel Hind, James Parkin, Victoria Whitworth, Saleema Rex, Tracey Young, Lisa Hampson, Jennie Sheehan, Chin Maguire, Hannah Cantrill, Elaine Scott, Heather Epps, Marion Main, Michelle Geary, Heather McMurchie, Lindsey Pallant, Daniel Woods, Jennifer Freeman, Ellen Lee, Michelle Eagle, Tracey Willis, Francesco Muntoni, Peter Baxter
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare disease that causes the progressive loss of motor abilities such as walking. Standard treatment includes physiotherapy. No trial has evaluated whether or not adding aquatic therapy (AT) to land-based therapy (LBT) exercises helps to keep muscles strong and children independent. OBJECTIVES: To assess the feasibility of recruiting boys with DMD to a randomised trial evaluating AT (primary objective) and to collect data from them; to assess how, and how well, the intervention and trial procedures work...
May 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28625589/acute-disseminated-encephalomyelitis-in-dengue-viral-infection
#8
REVIEW
Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Hasnur Zaman Hashim, Fan Kee Hoo, Siew Mooi Ching, Ramachandran Vasudevan, Mohd Hazmi Mohamed, Hamidon Basri
Dengue is the most common arboviral disease affecting many countries worldwide. An RNA virus from the flaviviridae family, dengue has four antigenically distinct serotypes (DEN-1-DEN-4). Neurological involvement in dengue can be classified into dengue encephalopathy immune-mediated syndromes, encephalitis, neuromuscular or dengue muscle dysfunction and neuro-ophthalmic involvement. Acute disseminated encephalomyelitis (ADEM) is an immune mediated acute demyelinating disorder of the central nervous system following recent infection or vaccination...
June 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28624507/effect-of-pyridostigmine-on-in-vivo-and-in-vitro-respiratory-muscle-of-mdx-mice
#9
Gabriela de Cássia Sousa Amancio, Andrea Grabe-Guimarães, Dridi Haikel, Johan Moreau, Neila Marcia Silva Barcellos, Alain Lacampagne, Stefan Matecki, Olivier Cazorla
The current work was conducted to verify the contribution of neuromuscular transmission defects at the neuromuscular junction to Duchenne Muscular Dystrophy disease progression and respiratory dysfunction. We tested pyridostigmine and pyridostigmine encapsulated in liposomes (liposomal PYR), an acetylcholinesterase inhibitor to improve muscular contraction on respiratory muscle function in mdx mice at different ages. We evaluated in vivo with the whole-body plethysmography, the ventilatory response to hypercapnia, and measured in vitro diaphragm strength in each group...
June 14, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#10
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624388/geo-economic-variations-in-epidemiology-patterns-of-care-and-outcomes-in-patients-with-acute-respiratory-distress-syndrome-insights-from-the-lung-safe-prospective-cohort-study
#11
John G Laffey, Fabiana Madotto, Giacomo Bellani, Tài Pham, Eddy Fan, Laurent Brochard, Pravin Amin, Yaseen Arabi, Ednan K Bajwa, Alejandro Bruhn, Vladimir Cerny, Kevin Clarkson, Leo Heunks, Kiyoyasu Kurahashi, Jon Henrik Laake, Jose A Lorente, Lia McNamee, Nicolas Nin, Jose Emmanuel Palo, Lise Piquilloud, Haibo Qiu, Juan Ignacio Silesky Jiménez, Andres Esteban, Daniel F McAuley, Frank van Haren, Marco Ranieri, Gordon Rubenfeld, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
BACKGROUND: Little information is available about the geo-economic variations in demographics, management, and outcomes of patients with acute respiratory distress syndrome (ARDS). We aimed to characterise the effect of these geo-economic variations in patients enrolled in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE). METHODS: LUNG SAFE was done during 4 consecutive weeks in winter, 2014, in a convenience sample of 459 intensive-care units in 50 countries across six continents...
June 14, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28624187/correction-of-the-exon-2-duplication-in-dmd-myoblasts-by-a-single-crispr-cas9-system
#12
Annalisa Lattanzi, Stephanie Duguez, Arianna Moiani, Araksya Izmiryan, Elena Barbon, Samia Martin, Kamel Mamchaoui, Vincent Mouly, Francesco Bernardi, Fulvio Mavilio, Matteo Bovolenta
Exonic duplications account for 10%-15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic cells. We demonstrate restoration of wild-type dystrophin expression at transcriptional and protein level in myotubes derived from genome-edited myoblasts in the absence of selection...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28620838/modelling-fus-mislocalisation-in-an-in-vitro-model-of-innervated-human-muscle
#13
Sonja Prpar Mihevc, Mojca Pavlin, Simona Darovic, Marko Živin, Matej Podbregar, Boris Rogelj, Tomaz Mars
Degeneration of distal axons and neuromuscular junctions is an early feature in the pathology of amyotrophic lateral sclerosis (ALS), which culminates in motor neuron loss due to axon retraction and muscle atrophy. The complex interactions in the pathogenesis of ALS between motor neurons, muscle cells and accompanying glia require an appropriate experimental model. Here, we have defined a co-culture model based on human myotubes innervated by neurons from embryonic rat spinal cord explants to investigate the pathology and treatment of ALS...
June 15, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28620563/pharmacological-threat-to-lungs-a-case-series-and-literature-review
#14
REVIEW
Omar Irfan, Jaleed A Gilani, Abeel Irshad, Babar Irfan, Javaid A Khan
Drug-induced organ damage stands as a prevalent yet much-neglected issue globally. Keeping in view it's rising frequency, health care providers stand obliged to be well versed with the de-merits of the agents they prescribe. Drug therapies causing damage present with a non-specific clinical presentation, histological findings or radiology, which further elaborates on the necessity of a conscientious diagnosis. Pulmonary architecture ranging from the airways, lung parenchyma, mediastinum, pleura, pulmonary vasculature or the neuromuscular system, all can fall victim to the dreaded outcomes of this menace...
May 9, 2017: Curēus
https://www.readbyqxmd.com/read/28612182/invaginating-presynaptic-terminals-in-neuromuscular-junctions-photoreceptor-terminals-and-other-synapses-of-animals
#15
REVIEW
Ronald S Petralia, Ya-Xian Wang, Mark P Mattson, Pamela J Yao
Typically, presynaptic terminals form a synapse directly on the surface of postsynaptic processes such as dendrite shafts and spines. However, some presynaptic terminals invaginate-entirely or partially-into postsynaptic processes. We survey these invaginating presynaptic terminals in all animals and describe several examples from the central nervous system, including giant fiber systems in invertebrates, and cup-shaped spines, electroreceptor synapses, and some specialized auditory and vestibular nerve terminals in vertebrates...
June 13, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#16
REVIEW
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Patients with LEMS invariably experience progressive proximal muscle weakness, often accompanied by general fatigue and autonomic symptoms...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28607632/mitochondrial-transfer-from-wharton-s-jelly-mesenchymal-stem-cell-to-merrf-cybrid-reduces-oxidative-stress-and-improves-mitochondrial-bioenergetics
#17
Yao-Chung Chuang, Chia-Wei Liou, Shang-Der Chen, Pei-Wen Wang, Jiin-Haur Chuang, Mao-Meng Tiao, Te-Yao Hsu, Hung-Yu Lin, Tsu-Kung Lin
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a maternally inherited mitochondrial disease affecting neuromuscular functions. Mt.8344A>G mutation in mitochondrial DNA (mtDNA) is the most common cause of MERRF syndrome and has been linked to an increase in reactive oxygen species (ROS) level and oxidative stress, as well as impaired mitochondrial bioenergetics. Here, we tested whether WJMSC has therapeutic potential for the treatment of MERRF syndrome through the transfer of mitochondria...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28604599/nutritional-challenges-in-duchenne-muscular-dystrophy
#18
REVIEW
Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures...
June 10, 2017: Nutrients
https://www.readbyqxmd.com/read/28601412/cardiac-manifestations-of-neuromuscular-disease
#19
Diego Rodríguez-Torres, Juan Jiménez-Jáimez, Rosa Macías-Ruiz, Miguel Álvarez-López, Luis Tercedor
No abstract text is available yet for this article.
June 7, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28600459/patients-with-als-show-highly-correlated-progression-rates-in-left-and-right-limb-muscles
#20
David J Rushton, Patricia L Andres, Peggy Allred, Robert H Baloh, Clive N Svendsen
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) progresses at different rates between patients, making clinical trial design difficult and dependent on large cohorts of patients. Currently, there are few data showing whether the left and right limbs progress at the same or different rates. This study addresses rates of decline in specific muscle groups of patients with ALS and assesses whether there is a relationship between left and right muscles in the same patient, regardless of overall progression...
June 9, 2017: Neurology
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