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Neuromuscular disease

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https://www.readbyqxmd.com/read/29475025/protein-anchoring-therapy-to-target-extracellular-matrix-proteins-to-their-physiological-destinations
#1
REVIEW
Mikako Ito, Kinji Ohno
Endplate acetylcholinesterase (AChE) deficiency is a form of congenital myasthenic syndrome (CMS) caused by mutations in COLQ, which encodes collagen Q (ColQ). ColQ is an extracellular matrix (ECM) protein that anchors AChE to the synaptic basal lamina. Biglycan, encoded by BGN, is another ECM protein that binds to the dystrophin-associated protein complex (DAPC) on skeletal muscle, which links the actin cytoskeleton and ECM proteins to stabilize the sarcolemma during repeated muscle contractions. Upregulation of biglycan stabilizes the DPAC...
February 20, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29473876/temporospatial-analysis-and-new-players-in-the-immunology-of-amyotrophic-lateral-sclerosis
#2
REVIEW
Abhirami K Iyer, Kathryn J Jones, Virginia M Sanders, Chandler L Walker
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive loss of lower and upper motor neurons (MN) leading to muscle weakness, paralysis and eventually death. Although a highly varied etiology results in ALS, it broadly manifests itself as sporadic and familial forms that have evident similarities in clinical symptoms and disease progression. There is a tremendous amount of knowledge on molecular mechanisms leading to loss of MNs and neuromuscular junctions (NMJ) as major determinants of disease onset, severity and progression in ALS...
February 23, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29473369/-clinical-data-analysis-of-2491-acupuncture-inpatient-consultations-a-report-from-qilu-hospital-of-shandong-university
#3
Xiaobin Ge, Lei Zhang, Gonglei Yue, Xuewei Xiao, Zhenjie Yang, Bin Tang, Shumei Wu, Yan Li, Guangzhong Du
OBJECTIVE: To summarize the 2491 acupuncture inpatient consultations in Qilu Hospital of Shandong University during 2014, and analyze the application of acupuncture in comprehensive hospital, hoping to provide direction and methods for clinical practice and scientific research of acupuncture. METHODS: The consultation record and hospitalization information during 2014 in Department of Acupuncture-Moxibustion and Tuina, Qilu Hospital of Shandong University, were collected and summarized through Inpatient Information Management System...
February 12, 2018: Zhongguo Zhen Jiu, Chinese Acupuncture & Moxibustion
https://www.readbyqxmd.com/read/29473159/developmental-and-degenerative-cardiac-defects-in-the-taiwanese-mouse-model-of-severe-spinal-muscular-atrophy
#4
Gillian K Maxwell, Eva Szunyogova, Hannah K Shorrock, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), an autosomal recessive disease caused by a decrease in levels of the survival motor neuron (SMN) protein, is the most common genetic cause of infant mortality. Although neuromuscular pathology is the most severe feature of SMA, other organs and tissues, including the heart, are also known to be affected in both patients and animal models. Here, we provide new insights into changes occurring in the heart, predominantly at pre- and early symptomatic ages, in the Taiwanese mouse model of severe SMA...
February 22, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29470458/prevalence-of-amyotrophic-lateral-sclerosis-united-states-2014
#5
Paul Mehta, Wendy Kaye, Jaime Raymond, Ruoming Wu, Theodore Larson, Reshma Punjani, Daniel Heller, Jessica Cohen, Tracy Peters, Oleg Muravov, Kevin Horton
Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease; the majority of ALS patients die within 2-5 years of receiving a diagnosis (1). Familial ALS, a hereditary form of the disease, accounts for 5%-10% of cases, whereas the remaining sporadic cases have no clearly defined etiology (1). ALS affects persons of all races and ethnicities; however, whites, males, non-Hispanics, persons aged >60 years, and those with a family history of ALS are more likely to develop the disease (1-3)...
February 23, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29464380/the-metabolic-and-endocrine-characteristics-in-spinal-and-bulbar-muscular-atrophy
#6
Angela Rosenbohm, Susanne Hirsch, Alexander E Volk, Torsten Grehl, Julian Grosskreutz, Frank Hanisch, Andreas Herrmann, Katja Kollewe, Wolfram Kress, Thomas Meyer, Susanne Petri, Johannes Prudlo, Carsten Wessig, Hans-Peter Müller, Jens Dreyhaupt, Jochen Weishaupt, Christian Kubisch, Jan Kassubek, Patrick Weydt, Albert C Ludolph
OBJECTIVE: Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for the selection of biomarkers for future therapeutic trials. METHODS: We assessed a panel of 28 laboratory parameters. The clinical course and blood biomarkers were correlated with disease duration and CAG repeat length...
February 20, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29463117/micro-dystrophin-gene-therapy-goes-systemic-in-duchenne-muscular-dystrophy-patients
#7
Dongsheng Duan
Whole body systemic gene therapy is likely the most effective way to greatly reduce the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to null mutation of the dystrophin gene, one of the largest genes in the genome. Recent studies have shown highly promising improvements in animal models with intravascular delivery of the engineered micro-dystrophin gene by adeno-associated virus (AAV). Several human trials are now started to advance AAV micro-dystrophin therapy to DMD patients...
February 20, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29463057/alternative-splicing-of-transcription-factors-genes-in-muscle-physiology-and-pathology
#8
REVIEW
Carol Imbriano, Susanna Molinari
Skeletal muscle formation is a multi-step process that is governed by complex networks of transcription factors. The regulation of their functions is in turn multifaceted, including several mechanisms, among them alternative splicing (AS) plays a primary role. On the other hand, altered AS has a role in the pathogenesis of numerous muscular pathologies. Despite these premises, the causal role played by the altered splicing pattern of transcripts encoding myogenic transcription factors in neuromuscular diseases has been neglected so far...
February 19, 2018: Genes
https://www.readbyqxmd.com/read/29462597/validity-and-reliability-of-outcome-measures-assessing-dexterity-coordination-and-upper-limb-strength-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#9
Cynthia Gagnon, Isabelle Lessard, Bernard Brais, Isabelle Côté, Caroline Lavoie, Matthis Synofzik, Jean Mathieu
OBJECTIVE: To document in adults affected by Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) the intra- and interrater reliability, standard error of measurement, agreement, minimal detectable change and construct validity of the Nine-Hole Peg Test (NHPT), Standardized Finger-to-Nose Test (SFNT), and grip strength. DESIGN: Metrological study. SETTING: Neuromuscular rehabilitation clinic. PARTICIPANTS: Genetically confirmed adult patients with ARSACS (n = 42, 21 females, mean age = 38...
February 17, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29461633/neuromuscular-dysfunction-in-the-cancer-patient-evaluation-and-treatment
#10
REVIEW
Jennifer A Baima, Julie K Silver, Mathew Most
Cancer is a common diagnosis. In conjunction with various anti-neoplastic therapies delivered sequentially or concurrently, it makes oncology patients among the most complex to treat. This review uses a series of case studies to discuss the diagnosis and treatment of cancer-related nerve and muscle disorders. Oncologic treatment interventions such as surgery, chemotherapy, radiation therapy, and hormonal therapy, often have predictable side-effects, and sometimes their associated disability can be mitigated, especially if recognized early...
February 20, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29460776/preserving-neuromuscular-synapses-in-als-by-stimulating-musk-with-a-therapeutic-agonist-antibody
#11
Sarah Cantor, Wei Zhang, Nicolas Delestrée, Leonor Remédio, George Z Mentis, Steven J Burden
In amyotrophic lateral sclerosis (ALS) and animal models of ALS, including SOD1-G93A mice, disassembly of the neuromuscular synapse precedes motor neuron loss and is sufficient to cause a decline in motor function that culminates in lethal respiratory paralysis. We treated SOD1-G93A mice with an agonist antibody to MuSK, a receptor tyrosine kinase essential for maintaining neuromuscular synapses, to determine whether increasing muscle retrograde signaling would slow nerve terminal detachment from muscle. The agonist antibody, delivered after disease onset, slowed muscle denervation, promoting motor neuron survival, improving motor system output, and extending the lifespan of SOD1-G93A mice...
February 20, 2018: ELife
https://www.readbyqxmd.com/read/29459326/motor-output-complexity-in-parkinson-s-disease-during-quiet-standing-and-walking-analysis-of-short-term-correlations-using-the-entropic-half-life
#12
C Pasluosta, J Hannink, H Gaßner, V Von Tscharner, J Winkler, J Klucken, B M Eskofier
Parkinson's disease (PD) is associated with alterations in motor outputs such as center of pressure (CoP) adjustments during quiet standing and foot kinematics during walking. Previous research suggests that the complexity of motor outputs reflects the number of control processes stabilizing a specific movement, providing a measure that is linked to the neurological control of the movement. The Entropic Half Life (EnHL) represents a new method for assessing motor output complexity. We hypothesized that there will be a lack of neuromuscular control pathways for PD patients, resulting in a decrease in motor output complexity...
February 16, 2018: Human Movement Science
https://www.readbyqxmd.com/read/29457998/home-based-neuromuscular-electrical-stimulation-as-an-add-on-to-pulmonary-rehabilitation-does-not-provide-further-benefits-in-patients-with-chronic-obstructive-pulmonary-disease-a-multicenter-randomized-trial
#13
Tristan Bonnevie, Francis-Edouard Gravier, David Debeaumont, Catherine Viacroze, Jean-François Muir, Antoine Cuvelier, Marie Netchitaïlo, Anne Laure Roy, Jean Quieffin, Marie-Hélène Marques, Clément Médrinal, Johan Dupuis, Catherine Tardif
OBJECTIVE: To assess the additional effect of a home-based neuro muscular electrical stimulation (NMES) program as an add-on to pulmonary rehabilitation (PR), on functional capacity in subjects with chronic obstructive pulmonary disease (COPD). DESIGN: Single-blind, multicenter randomized trial. SETTING: Three PR centers. PARTICIPANTS: Subjects with severe to very severe COPD referred for PR (n=73; median FEV1, 1 (0...
February 16, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29455220/how-do-physical-capacity-fatigue-and-performance-differ-in-children-with-duchenne-muscular-dystrophy-compared-with-their-healthy-peers
#14
Akmer Mutlu, Halil Alkan, Tuzun Fırat, Aynur A Karaduman, Oznur T Yilmaz
OBJECTIVE: To compare the fatigue levels and energy expenditure of children with Duchenne Muscular Dystrophy (DMD) at different functional levels with healthy children. METHODS: The cross-sectional study was carried out in the Unit of Pediatric Neuromuscular Diseases in the Department of Physiotherapy and Rehabilitation, Faculty of Health Science, Hacettepe University between March 2015 and January 2016. Fifty two children diagnosed with DMD in Level I-III according to the Brooke Functional Classification Scale and 17 healthy children were included in the study...
January 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29453960/synaptic-dysfunction-and-altered-excitability-in-c9orf72-als-ftd
#15
Alexander Starr, Rita Sattler
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is now considered a spectrum disease together with frontotemporal dementia (FTD), the second most common cause of dementia in individuals under the age of 65. Interestingly, in both diseases, there is a large prevalence of RNA binding proteins (RBPs) that are mutated and considered disease-causing, or whose dysfunction contribute to disease pathogenesis...
February 14, 2018: Brain Research
https://www.readbyqxmd.com/read/29453639/upper-airway-obstruction-induced-by-non-invasive-ventilation-using-an-oronasal-interface
#16
Valentin Schellhas, Christian Glatz, Ingo Beecken, Angelika Okegwo, Anna Heidbreder, Peter Young, Matthias Boentert
BACKGROUND: On initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular. METHODS: We evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask...
February 17, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29449118/shot-by-a-gun-%C3%A2-missed-by-a-provider
#17
Eddie Garcia, Abdul H Zaid, Diane P Calello, Lisa McHugh, Grant Arzumanov, Najaf Asrar, Ari Sapin, Kristin G Fless
BACKGROUND: Botulism is a paralytic disease caused by the neurotoxin produced by Clostridium botulinum. The majority of cases are due to ingestion or injection drug use. Wound botulism from traumatic injury is exceedingly rare, with only one to two cases reported each year in the United States. CASE REPORT: A 27-year-old man presented to the Emergency Department with diplopia, dysphagia, and progressive weakness 10 days after sustaining a gunshot wound to his right lower leg...
February 12, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29445539/the-clinical-usefulness-of-a-self-administered-questionnaire-for-sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#18
Cathy Zhang, Michelle Ramsay, Panagis Drakatos, Joerg Steier
Background: Patients with neuromuscular disease (NMD) are at risk of developing sleep-disordered breathing (SDB) with hypercapnic respiratory failure. We hypothesised that a self-administered questionnaire (SiNQ-5 scores) may be useful to assess patients who are established on treatment for NMD with SDB. Methods: Patients attending a tertiary referral centre filled in the SiNQ-5 (range 0-10 points, lower scores indicating fewer symptoms). The questionnaire contains five questions related to breathlessness, sleep and posture...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29443739/effects-of-exercise-on-secretion-transport-inflammation-and-quality-of-life-in-patients-with-noncystic-fibrosis-bronchiectasis-protocol-for-a-randomized-controlled-trial
#19
Daniele Oliveira Dos Santos, Hugo Celso Dutra de Souza, José Antônio Baddini-Martinez, Ercy Mara Cipulo Ramos, Ada Clarice Gastaldi
BACKGROUND: Bronchiectasis is characterized by pathological and irreversible bronchial dilatation caused by the inefficient mucus and microorganism clearance and progression of inflammatory processes. The most frequent characteristic is the increase in bronchial mucus production resulting in slower transport and damage to the mucociliary transport. AIMS: To evaluate the effects of exercise on mucus transport, inflammation, and resistance of the respiratory and autonomic nervous systems and subsequent effects on quality of life in patients with bronchiectasis who are enrolled in a pulmonary rehabilitation program...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#20
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
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