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https://www.readbyqxmd.com/read/28528330/epidemiology-of-amyotrophic-lateral-sclerosis-in-the-republic-of-cyprus-a-25-year-retrospective-study
#1
Christiana A Demetriou, Petros M Hadjivasiliou, Kleopas A Kleopa, Yiolanda P Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a rare, rapidly progressive neurodegenerative disease. Despite wide variability in the incidence and prevalence of ALS, there is evidence of positive temporal trends and an increase in incidence with age. The aim of this study was to conduct a detailed epidemiological investigation of ALS in Cyprus. METHODS: All registered Cypriot ALS patients in the Republic of Cyprus from January 1985 until December 2014 were included...
May 20, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28528293/spatiotemporal-movement-variability-in-als-speaking-rate-effects-on-tongue-lower-lip-and-jaw-motor-control
#2
Mili Kuruvilla-Dugdale, Antje Mefferd
PURPOSE: Although it is frequently presumed that bulbar muscle degeneration in Amyotrophic Lateral Sclerosis (ALS) is associated with progressive loss of speech motor control, empirical evidence is limited. Furthermore, because speaking rate slows with disease progression and rate manipulations are used to improve intelligibility in ALS, this study sought to (i) determine between and within-group differences in articulatory motor control as a result of speaking rate changes and (ii) identify the strength of association between articulatory motor control and speech impairment severity...
May 10, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28528135/presymptomatically-applied-ampa-receptor-antagonist-prevents-calcium-increase-in-vulnerable-type-of-motor-axon-terminals-of-mice-modeling-amyotrophic-lateral-sclerosis
#3
Roland Patai, Melinda Paizs, Massimo Tortarolo, Caterina Bendotti, Izabella Obál, József I Engelhardt, László Siklós
Increased intracellular calcium (Ca), which might be the consequence of an excess influx through Ca-permeable α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, plays a crucial role in degeneration of motor neurons. Previously we demonstrated that the presymptomatic application of AMPA receptor antagonist, talampanel, could reduce Ca elevation in spinal motor neurons of mice carrying the G93A mutation of superoxide dismutase 1 (SOD1), modeling amyotrophic lateral sclerosis (ALS). It remained to be examined whether the remote, functionally semi-autonomous motor axon terminals could be rescued from the Ca overload, or if the terminals, where the degeneration possibly starts, already experience intractable changes at early time points...
May 17, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28527524/c9orf72-hexanucleotide-repeat-expansions-and-ataxin-2-intermediate-length-repeat-expansions-in-indian-patients-with-amyotrophic-lateral-sclerosis
#4
Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekanandan
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the Caucasian population. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS in North America and Europe. We screened 131 ALS patients and 127 healthy controls from India for C9orf72 and ATXN2 repeat expansions. We found pathogenic hexanucleotide expansions in 3 of the 127 sporadic ALS patients, in 1 of the 4 familial ALS patients, and in none of the healthy controls...
April 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28527504/telehealth-in-physical-medicine-and-rehabilitation-a-narrative-review
#5
REVIEW
Adam S Tenforde, Jaye E Hefner, Jodi E Kodish-Wachs, Mary A Iaccarino, Sabrina Paganoni
Telehealth refers to health care interactions that leverage telecommunication devices to provide medical care outside the traditional face-to-face, in-person medical encounter. Technology advances and research have expanded use of telehealth in health care delivery. Physical medicine and rehabilitation providers may use telehealth to deliver care to populations with neurologic and musculoskeletal conditions, commonly treated in both acute care and outpatient settings. Patients with impaired mobility and those living in locations with reduced access to care may particularly benefit...
May 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28527102/studies-of-environmental-risk-factors-in-amyotrophic-lateral-sclerosis-als-and-a-phase-i-clinical-trial-of-l-serine
#6
Walter G Bradley, R X Miller, T D Levine, E W Stommel, P A Cox
β-N-Methylamino-L-alanine (BMAA) has been linked to Guam ALS/PDC and shown to produce neurodegeneration in vitro and in vivo (Drosophila, mice, rats, primates). BMAA misincorporation into neuroproteins produces protein misfolding and is inhibited by L-serine. Case-control studies in Northern New England indicate that living near to water-bodies with cyanobacterial blooms increases the risk of developing amyotrophic lateral sclerosis (ALS). The distribution of addresses of ALS cases in New Hampshire, Vermont, and Florida was compared to that of controls...
May 19, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28527045/amyotrophic-lateral-sclerosis-like-superoxide-dismutase-1-proteinopathy-is-associated-with-neuronal-loss-in-parkinson-s-disease-brain
#7
Benjamin G Trist, Katherine M Davies, Veronica Cottam, Sian Genoud, Richard Ortega, Stéphane Roudeau, Asuncion Carmona, Kasun De Silva, Valerie Wasinger, Simon J G Lewis, Perminder Sachdev, Bradley Smith, Claire Troakes, Caroline Vance, Christopher Shaw, Safa Al-Sarraj, Helen J Ball, Glenda M Halliday, Dominic J Hare, Kay L Double
Neuronal loss in numerous neurodegenerative disorders has been linked to protein aggregation and oxidative stress. Emerging data regarding overlapping proteinopathy in traditionally distinct neurodegenerative diseases suggest that disease-modifying treatments targeting these pathological features may exhibit efficacy across multiple disorders. Here, we describe proteinopathy distinct from classic synucleinopathy, predominantly comprised of the anti-oxidant enzyme superoxide dismutase-1 (SOD1), in the Parkinson's disease brain...
May 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28526745/identification-and-characterisation-of-nanobodies-targeting-the-epha4-receptor
#8
Lies Schoonaert, Laura Rué, Bart Roucourt, Mieke Timmers, Susan Little, Lucía Chávez Gutiérrez, Maarten Dewilde, Peter Joyce, Adam Curnock, Peter Weber, Jurgen Haustraete, Gholamreza Hassanzadeh-Ghassabeh, Bart De Strooper, Ludo Van Den Bosch, Philip Van Damme, Robin Lemmens, Wim Robberecht
The ephrin receptor A4 (EphA4) is one of the receptors in the ephrin system that plays a pivotal role in a variety of cell-cell interactions, mostly studied during development. In addition, EphA4 has been found to play a role in cancer biology as well as in the pathogenesis of several neurological disorders such as stroke, spinal cord injury, multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD). Pharmacological blocking of EphA4 has been suggested to be a therapeutic strategy for these disorders...
May 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28526579/differential-involvement-of-vesicular-and-glial-glutamate-transporters-around-spinal-%C3%AE-motoneurons-in-the-pathogenesis-of-sod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis
#9
Tomohiro Ohgomori, Ryo Yamasaki, Hideyuki Takeuchi, Kenji Kadomatsu, Jun-Ichi Kira, Shozo Jinno
From a view point of the glutamate excitotoxicity theory, several studies have suggested that abnormal glutamate homeostasis via dysfunction of glial glutamate transporter-1 (GLT-1) may underlie neurodegeneration in amyotrophic lateral sclerosis (ALS). However, the detailed role of GLT-1 in the pathogenies of ALS remains controversial. To assess this issue, here we elucidated structural alterations associated with dysregulation of glutamate homeostasis using SOD1(G93A) mice, a genetic model of familial ALS...
May 16, 2017: Neuroscience
https://www.readbyqxmd.com/read/28526483/effects-of-air-stacking-maneuver-on-cough-peak-flow-and-chest-wall-compartmental-volumes-of-amyotrophic-lateral-sclerosis-subjects
#10
Antonio Sarmento, Vanessa Regiane Resqueti, Mario Emílio Teixeira Dourado-Júnior, Lailane Saturnino, Andrea Aliverti, Guilherme Augusto de Freitas Fregonezi, Armele de Fátima Dornelas de Andrade
OBJECTIVES: To assess the acute effects of air stacking on cough peak flow (CPF) and chest wall compartmental volumes of persons with amyotrophic lateral sclerosis (ALS) versus healthy controls positioned at 45° body inclination. DESIGN: Cross-sectional study with a matched-pair design. SETTING: University hospital. PARTICIPANTS: Twelve persons with ALS and twelve age-matched healthy. MAIN OUTCOMES: CPF, chest wall compartmental inspiratory capacity (ICCW), vital capacity (VCCW), tidal volume (VTCW) and operational volumes, breathing pattern and percentage of contribution of the compartments to the inspired volume were measured by optoelectronic plethysmography...
May 16, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28523721/a-prospective-study-of-quality-of-life-in-amyotrophic-lateral-sclerosis-patients
#11
B Jakobsson Larsson, A G Ozanne, K Nordin, I Nygren
OBJECTS: The aim of this prospective and longitudinal study was to describe individual quality of life in patients with amyotrophic lateral sclerosis (ALS) and its correlations with physical function and emotional well-being from diagnosis and over time. MATERIALS AND METHODS: Thirty-six patients were included in the study. Individual quality of life was measured with the Schedule of Evaluation of Individual Quality of Life-Direct Weighting (SEIQoL-DW), illness severity was assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALS FRS-R), and emotional distress was measured using the Hospital Anxiety and Depression Scale (HADS)...
May 19, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28523551/epigenetic-mechanisms-of-gene-regulation-in-amyotrophic-lateral-sclerosis
#12
Alba Jimenez-Pacheco, Jaime M Franco, Soledad Lopez, Juan Miguel Gomez-Zumaquero, Maria Magdalena Leal-Lasarte, Diana E Caballero-Hernandez, Marta Cejudo-Guillén, David Pozo
Despite being clinically described 150 years ago, the mechanisms underlying amyotrophic lateral sclerosis (ALS) pathogenesis have not yet been fully understood. Studies in both animal models of ALS and human patients reveal a plethora of alterations such as increased glutamate-mediated excitotoxicity, redox stress, increased apoptosis, defective axonal transport, protein-misfolding events, mitochondrial impairment and sustained unregulated immune responses. Regardless of being sporadic or familiar ALS, the final outcome at the cellular level is the death of upper and lower motor neurons, and once diagnosed, ALS is typically lethal within the next 5 years...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523531/erratum-to-ultra-high-field-proton-mr-spectroscopy-in-early-stage-amyotrophic-lateral-sclerosis
#13
Ian Cheong, Małgorzata Marjańska, Dinesh K Deelchand, Lynn E Eberly, David Walk, Gülin Öz
No abstract text is available yet for this article.
May 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28522961/energy-homeostasis-and-abnormal-rna-metabolism-in-amyotrophic-lateral-sclerosis
#14
REVIEW
Yu-Ju Liu, Po-Yi Tsai, Yijuang Chern
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that is clinically characterized by progressive muscle weakness and impaired voluntary movement due to the loss of motor neurons in the brain, brain stem and spinal cord. To date, no effective treatment is available. Ample evidence suggests that impaired RNA homeostasis and abnormal energy status are two major pathogenesis pathways in ALS. In the present review article, we focus on recent studies that report molecular insights of both pathways, and discuss the possibility that energy dysfunction might negatively regulate RNA homeostasis via the impairment of cytoplasmic-nuclear shuttling in motor neurons and subsequently contribute to the development of ALS...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28522960/motomirs-mirnas-in-motor-neuron-function-and-disease
#15
REVIEW
Zachary C E Hawley, Danae Campos-Melo, Cristian A Droppelmann, Michael J Strong
MiRNAs are key regulators of the mammalian transcriptome that have been increasingly linked to degenerative diseases of the motor neurons. Although many of the miRNAs currently incriminated as participants in the pathogenesis of these diseases are also important to the normal development and function of motor neurons, at present there is no knowledge of the complete miRNA profile of motor neurons. In this review, we examine the current understanding with respect to miRNAs that are specifically required for motor neuron development, function and viability, and provide evidence that these should be considered as a functional network of miRNAs which we have collectively termed MotomiRs...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28522837/age-related-penetrance-of-the-c9orf72-repeat-expansion
#16
Natalie A Murphy, Karissa C Arthur, Pentti J Tienari, Henry Houlden, Adriano Chiò, Bryan J Traynor
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing symptoms. Describing penetrance by age among C9orf72 carriers and identifying parameters that alter onset age are essential to better understanding this locus and to enhance predictive counseling...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28522369/electroencephalographic-monitoring-during-sevoflurane-anaesthesia-in-an-amyotrophic-lateral-sclerosis-patient-with-locked-in-state
#17
Kazuko Hayashi, Ryuhei Araki, Akiko Tanaka
Recently, the cognitive abilities of patients with amyotrophic lateral sclerosis (ALS) have been found to be impaired along with the neurodegeneration of motor neurons. Electroencephalography (EEG) of end-stage ALS patients has reportedly shown specific features based on neuronal network modulations, differing from EEG of other patients with cognitive failure and dementia. However, EEG of end-stage ALS patients during anaesthesia has not yet been reported. A 64-year-old male ALS patient with locked-in state (LIS), supported by tracheostomy positive-pressure ventilation (TPPV) and enteral nourishment for 9years, underwent scheduled general anaesthesia for repair of a fractured mandible...
May 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28522181/safety-and-efficacy-of-edaravone-in-well-defined-patients-with-amyotrophic-lateral-sclerosis-a-randomised-double-blind-placebo-controlled-trial
#18
(no author information available yet)
BACKGROUND: In a previous phase 3 study in patients with amyotrophic lateral sclerosis (ALS), edaravone did not show a significant difference in the Revised ALS Functional Rating Scale (ALSFRS-R) score compared with placebo. Post-hoc analysis of these data revealed that patients in an early stage with definite or probable diagnosis of ALS, defined by the revised El Escorial criteria, who met a select set of inclusion criteria showed a greater magnitude of effect than did the full study population...
May 15, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28521037/clinical-significance-of-tdp-43-neuropathology-in-amyotrophic-lateral-sclerosis
#19
Matthew D Cykowski, Suzanne Z Powell, Leif E Peterson, Joan W Appel, Andreana L Rivera, Hidehiro Takei, Ellen Chang, Stanley H Appel
To determine the significance of TAR DNA binding protein 43 kDa (TDP-43) pathology in amyotrophic lateral sclerosis (ALS), we examined the whole brains and spinal cords of 57 patients (35 men; 22 women; mean age 63.3 years; 15 patients with c9orf72-associated ALS [c9ALS]). TDP-43 pathologic burden was determined relative to symptom onset site, disease duration, progression rate, cognitive status, and c9ALS status. There was a trend for greater TDP-43 pathologic burden in cognitively impaired patients (p = 0...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28520806/als-skeletal-muscle-shows-enhanced-tgf-%C3%AE-signaling-fibrosis-and-induction-of-fibro-adipogenic-progenitor-markers
#20
David Gonzalez, Osvaldo Contreras, Daniela L Rebolledo, Juan Pablo Espinoza, Brigitte van Zundert, Enrique Brandan
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory failure. Several studies indicate that skeletal muscle contributes to disease progression; however the molecular mechanisms remain elusive. Fibrosis is a common feature in skeletal muscle under chronic damage conditions such as those caused by muscular dystrophies or denervation. However, the exact mechanisms of fibrosis induction and the cellular bases of this pathological response are unknown...
2017: PloS One
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