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neuromuscular disorders

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https://www.readbyqxmd.com/read/28637155/reliability-validity-and-norms-of-the-2-min-walk-test-in-children-with-and-without-neuromuscular-disorders-aged-6-12
#1
Tamis W Pin, H L Choi
PURPOSE: The 2-min walk test may be more appropriate functional exercise test for young children. This study aimed to examine the 2-min walk test's reliability; validity; and minimal clinically important difference; and to establish norms for children aged 6-12. METHODS: Sixty-one healthy children were recruited to examine the 2-min walk test's reliability. Forty-six children with neuromuscular disorders (63% cerebral palsy) were recruited to test the validity. The normative study involved 716 healthy children without neuromuscular disorders (male = 51%, female = 49%)...
March 3, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28635482/diagnosis-and-management-of-myasthenia-gravis
#2
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
#3
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/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/28628940/clinical-neurophysiology-in-neuromuscular-disorders-old-fashioned-or-still-relevant
#5
Wolfgang Müller-Felber, Katharina Vill
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28625589/acute-disseminated-encephalomyelitis-in-dengue-viral-infection
#6
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/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#7
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/28624187/correction-of-the-exon-2-duplication-in-dmd-myoblasts-by-a-single-crispr-cas9-system
#8
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/28621490/dissecting-the-benefits-of-long-term-non-invasive-ventilation-in-patients-with-distinct-neuromuscular-disorders
#9
EDITORIAL
Matthias Boentert
No abstract text is available yet for this article.
June 16, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28621277/botulinum-toxin-for-the-treatment-of-gummv-smile
#10
Afnan F Al-Fouzan, Lamia S Mokeem, Reem T Al-Saqat, Maisa A Alfalah, Mana A Alharbi, Abdullah E Al-Samary
AIM: The aim was to evaluate the effect of botulinum toxin (Botox) injections as a conservative treatment for gummy smile. MATERIALS AND METHODS: An experimental in vivo study was conducted at a dermatology clinic in Riyadh in January 2016. The study included 23 female patients who ranged from 20 to 50 years and were treated with Botox injections due to excessive maxillary gingival display. The patients with short clinical crowns or long maxilla, those who were pregnant or breastfeeding, and patients with neuromuscular disorders were excluded...
June 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#11
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/28606401/monoclonal-gammopathy-with-both-nemaline-myopathy-and-amyloid-myopathy
#12
Min Wang, Lin Lei, Hai Chen, Li Di, Mi Pang, Yan Lu, Lu Lu, Xin-Ming Shen, Yuwei Da
Monoclonal gammopathies due to plasma cell dyscrasias can induce diverse rare neuromuscular disorders. Deposition of monoclonal antibody light chains in skeletal muscle causes amyloid myopathy. Monoclonal gammopathy is occasionally associated with sporadic late-onset nemaline myopathy. Here we report a monoclonal gammopathy patient with both sporadic late-onset nemaline myopathy and amyloid myopathy. The diagnoses were based on immunofixation electrophoresis of urine, and serum for free light chain assay, Congo red staining and Thioflavin S staining of muscle biopsies, as well as immunohistochemical staining and electron-microscopic observation...
May 11, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28599397/infant-mortality-and-causes-of-death-by-birth-weight-for-gestational-age-in-non-malformed-singleton-infants-a-2002-2012-population-based-study
#13
Tanja Premru-Srsen, Ivan Verdenik, Barbara Mihevc Ponikvar, Lili Steblovnik, Ksenija Geršak, Lilijana Kornhauser Cerar
OBJECTIVE: To explore the associations between birth weight for gestational age (GA) and infant mortality as well as causes of infant death. STUDY DESIGN: A population-based observational study conducted between 2002 and 2012 included 203,620 non-malformed singleton live births from Slovenia. Poisson regression analyses were performed to estimate the crude relative risk (RR) and adjusted RR (aRR) for infant mortality by birth weight percentiles stratified by the GA subgroups term, moderate-to-late preterm, very preterm and extremely preterm...
May 24, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28597807/insights-into-the-mechanisms-of-copper-dyshomeostasis-in-amyotrophic-lateral-sclerosis
#14
Francisco J Gil-Bea, Garazi Aldanondo, Haizpea Lasa-Fernández, Adolfo López de Munain, Ainara Vallejo-Illarramendi
Amyotrophic lateral sclerosis (ALS) is a severe neuromuscular disease characterised by a progressive loss of motor neurons that usually results in paralysis and death within 2 to 5 years after disease onset. The pathophysiological mechanisms involved in ALS remain largely unknown and to date there is no effective treatment for this disease. Here, we review clinical and experimental evidence suggesting that dysregulation of copper homeostasis in the central nervous system is a crucial underlying event in motor neuron degeneration and ALS pathophysiology...
June 9, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28592203/the-use-of-an-online-support-group-for-neuromuscular-disorders-a-thematic-analysis-of-message-postings
#15
Oonagh Meade, Heather Buchanan, Neil Coulson
PURPOSE: People affected by neuromuscular disorders can experience adverse psychosocial consequences and difficulties accessing information and support. Online support groups provide new opportunities for peer support. The aim of this study was to understand how contributors used the message board function of a newly available neuromuscular disorders online support group. METHODS: Message postings (n = 1951) from the first five months of the message board of a newly formed online support group for neuromuscular disorders hosted by a charitable organization were analyzed using inductive thematic analysis...
June 8, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28588757/identification-of-neuron-selective-androgen-receptor-inhibitors
#16
Maya Otto-Duessel, Ben Yi Tew, Steven Vonderfecht, Roger Moore, Jeremy O Jones
AIM: To identify neuron-selective androgen receptor (AR) signaling inhibitors, which could be useful in the treatment of spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, a neuromuscular disorder in which deterioration of motor neurons leads to progressive muscle weakness. METHODS: Cell lines representing prostate, kidney, neuron, adipose, and muscle tissue were developed that stably expressed the CFP-AR-YFP FRET reporter. We used these cells to screen a library of small molecules for cell type-selective AR inhibitors...
May 26, 2017: World Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28588248/expanded-ccug-repeat-rna-expression-in-drosophila-heart-and-muscle-trigger-myotonic-dystrophy-type-1-like-phenotypes-and-activate-autophagocytosis-genes
#17
Estefania Cerro-Herreros, Mouli Chakraborty, Manuel Pérez-Alonso, Rubén Artero, Beatriz Llamusí
Myotonic dystrophies (DM1-2) are neuromuscular genetic disorders caused by the pathological expansion of untranslated microsatellites. DM1 and DM2, are caused by expanded CTG repeats in the 3'UTR of the DMPK gene and CCTG repeats in the first intron of the CNBP gene, respectively. Mutant RNAs containing expanded repeats are retained in the cell nucleus, where they sequester nuclear factors and cause alterations in RNA metabolism. However, for unknown reasons, DM1 is more severe than DM2. To study the differences and similarities in the pathogenesis of DM1 and DM2, we generated model flies by expressing pure expanded CUG ([250]×) or CCUG ([1100]×) repeats, respectively, and compared them with control flies expressing either 20 repeat units or GFP...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28580208/heart-transplantation-in-patients-with-dystrophinopathic-cardiomyopathy-review-of-the-literature-and-personal-series
#18
REVIEW
Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28579452/the-role-of-macf1-in-nervous-system-development-and-maintenance
#19
REVIEW
Jeffrey J Moffat, Minhan Ka, Eui-Man Jung, Amanda L Smith, Woo-Yang Kim
Microtubule-actin crosslinking factor 1 (MACF1), also known as actin crosslinking factor 7 (ACF7), is essential for proper modulation of actin and microtubule cytoskeletal networks. Most MACF1 isoforms are expressed broadly in the body, but some are exclusively found in the nervous system. Consequentially, MACF1 is integrally involved in multiple neural processes during development and in adulthood, including neurite outgrowth and neuronal migration. Furthermore, MACF1 participates in several signaling pathways, including the Wnt/β-catenin and GSK-3 signaling pathways, which regulate key cellular processes, such as proliferation and cell migration...
June 1, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28579403/cefra-seq-systematic-mapping-of-rna-subcellular-distribution-properties-through-cell-fractionation-coupled-to-deep-sequencing
#20
Fabio Alexis Lefebvre, Neal Cody, Louis Philip Benoit Bouvrette, Julie Bergalet, Xiaofeng Wang, Eric Lécuyer
The subcellular trafficking of RNA molecules is a conserved feature of eukaryotic cells and plays key functions in diverse processes implicating polarised cellular activities. Large-scale imaging and subcellular transcriptomic studies suggest that regulated RNA localization is a highly prevalent process that appears to be disrupted in several neuromuscular disorders. These features underline the importance and usefulness of implementing procedures to assess global transcriptome subcellular distribution properties...
June 1, 2017: Methods: a Companion to Methods in Enzymology
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