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https://www.readbyqxmd.com/read/28813081/epidemiological-and-clinical-factors-impact-on-the-benefit-of-riluzole-in-the-survival-rates-of-patients-with-als
#1
Francis Meire Fávero, Mariana Callil Voos, Isac de Castro, Fátima Aparecida Caromano, Acary Souza Bulle Oliveira
Objective: To investigate the impact of epidemiological and clinical factors on the benefit of riluzole in patients with amyotrophic lateral sclerosis (ALS). Methods: The survival rate of 578 patients with ALS (1999-2011) was analyzed by descriptive statistics and Kaplan-Meier curves. Considering the median of the sample survival time (19 months), patients were divided in two groups: below (B19) and above the median (A19). Kaplan-Meier curves compared the survival rates of patients treated with riluzole and with patients who did not take the medication...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812939/removing-dysfunctional-mitochondria-from-axons-independent-of-mitophagy-under-pathophysiological-conditions
#2
Mei-Yao Lin, Xiu-Tang Cheng, Yuxiang Xie, Qian Cai, Zu-Hang Sheng
Chronic mitochondrial dysfunction has been implicated in major neurodegenerative diseases. Long-term cumulative pathological stress leads to axonal accumulation of damaged mitochondria. Therefore, the early removal of defective mitochondria from axons constitutes a critical step of mitochondrial quality control. We recently investigated the axonal mitochondrial response to mild stress in wild-type neurons and chronic mitochondrial defects in amyotrophic lateral sclerosis (ALS)- and Alzheimer disease (AD)-linked neurons...
August 16, 2017: Autophagy
https://www.readbyqxmd.com/read/28812062/clinical-and-experimental-studies-of-a-novel-p525r-fus-mutation-in-amyotrophic-lateral-sclerosis
#3
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St Clair, Edward J Kasarskis, Haining Zhu
OBJECTIVE: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models. METHODS: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28811143/nadph-oxidases-as-drug-targets-and-biomarkers-in-neurodegenerative-diseases-what-is-the-evidence
#4
REVIEW
Silvia Sorce, Roland Stocker, Tamara Seredenina, Rikard Holmdahl, Adriano Aguzzi, Adriano Chio, Antoine Depaulis, Freddy Heitz, Peter Olofsson, Tomas Olsson, Venceslas Duveau, Despina Sanoudou, Sara Skosgater, Antonia Vlahou, Dominique Wasquel, Karl-Heinz Krause, Vincent Jaquet
Neurodegenerative disease are frequently characterized by microglia activation and/or leukocyte infiltration in the parenchyma of the central nervous system and at the molecular level by increased oxidative modifications of proteins, lipids and nucleic acids. NADPH oxidases (NOX) emerged as a novel promising class of pharmacological targets for the treatment of neurodegeneration due to their role in oxidant generation and presumably in regulating microglia activation. The unique function of NOX is the generation of superoxide anion (O2(•-)) and hydrogen peroxide (H2O2)...
August 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28809841/measuring-neuromuscular-junction-functionality
#5
Emanuele Rizzuto, Simona Pisu, Carmine Nicoletti, Zaccaria Del Prete, Antonio Musarò
Neuromuscular junction (NMJ) functionality plays a pivotal role when studying diseases in which the communication between motor neuron and muscle is impaired, such as aging and amyotrophic lateral sclerosis (ALS). Here we describe an experimental protocol that can be used to measure NMJ functionality by combining two types of electrical stimulation: direct muscle membrane stimulation and the stimulation through the nerve. The comparison of the muscle response to these two different stimulations can help to define, at the functional level, potential alterations in the NMJ that lead to functional decline in muscle...
August 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28808785/conserved-dna-methylation-combined-with-differential-frontal-cortex-and-cerebellar-expression-distinguishes-c9orf72-associated-and-sporadic-als-and-implicates-serpina1-in-disease
#6
Mark T W Ebbert, Christian A Ross, Luc J Pregent, Rebecca J Lank, Cheng Zhang, Rebecca B Katzman, Karen Jansen-West, Yuping Song, Edroaldo Lummertz da Rocha, Carla Palmucci, Pamela Desaro, Amelia E Robertson, Ana M Caputo, Dennis W Dickson, Kevin B Boylan, Rosa Rademakers, Tamas Ordog, Hu Li, Veronique V Belzil
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease...
August 14, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28807987/use-of-noninvasive-ventilation-during-feeding-tube-placement
#7
REVIEW
Paolo Banfi, Eleonora Volpato, Chiara Valota, Salvatore D'Ascenzo, Chiara Bani Alunno, Agata Lax, Antonello Nicolini, Nicola Ticozzi, Vincenzo Silani, John R Bach
Parenteral nutrition is indicated in amyotrophic lateral sclerosis (ALS) when dysphagia, loss of appetite, and difficulty protecting the airways cause malnutrition, severe weight loss, dehydration, and increased risk of aspiration pneumonia. The aim of this review is to compare percutaneous endoscopic gastrostomy (PEG), radiologically inserted G-tube (RIG), and percutaneous radiologic gastrostomy (PRG) in patients with ALS, performed with or without noninvasive ventilation (NIV). We searched PubMed, MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), the EBSCO Online Research Database, and Scopus up to December 2015...
August 14, 2017: Respiratory Care
https://www.readbyqxmd.com/read/28806139/mask-mitigates-mapt-and-fus-induced-degeneration-by-enhancing-autophagy-through-lysosomal-acidification
#8
Mingwei Zhu, Sheng Zhang, Xiaolin Tian, Chunlai Wu
Accumulation of intracellular misfolded or damaged proteins is associated with both normal aging and late-onset degenerative diseases. Two cellular clearance mechanisms, the ubiquitin-proteasome system (UPS) and the macroautophagy/autophagy-lysosomal pathway, work in concert to degrade harmful protein aggregates and maintain protein homeostasis. Here we show that Mask, an Ankyrin-repeat and KH-domain containing protein, plays a key role in promoting autophagy flux and mitigating degeneration caused by protein aggregation or impaired UPS function...
August 14, 2017: Autophagy
https://www.readbyqxmd.com/read/28805578/nonmotor-symptoms-in-amyotrophic-lateral-sclerosis-a-systematic-review
#9
Ton Fang, Felix Jozsa, Ammar Al-Chalabi
BACKGROUND: ALS is a progressive neurodegenerative disease with no curative treatment. Nonmotor symptoms presenting in ALS may cause significant distress, worsen prognosis, and affect survival. OBJECTIVE: To systematically review evidence for the prevalence of nonmotor ALS symptoms, and treatment options. METHODS: Multiple medical literature databases were searched and studies screened using predefined inclusion criteria. Of 4580 studies, 44 were eligible for inclusion with 25 relating to treatment and 19 to the prevalence of nonmotor symptoms in ALS...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804999/diversity-of-astroglial-responses-across-human-neurodegenerative-disorders-and-brain-aging
#10
Isidro Ferrer
Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28803727/elimination-of-toxic-microsatellite-repeat-expansion-rna-by-rna-targeting-cas9
#11
Ranjan Batra, David A Nelles, Elaine Pirie, Steven M Blue, Ryan J Marina, Harrison Wang, Isaac A Chaim, James D Thomas, Nigel Zhang, Vu Nguyen, Stefan Aigner, Sebastian Markmiller, Guangbin Xia, Kevin D Corbett, Maurice S Swanson, Gene W Yeo
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for diagnostic and therapeutic purposes. Here, we describe the development of a programmable CRISPR system capable of specifically visualizing and eliminating these toxic RNAs. We observe specific targeting and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed and in patient cells...
August 8, 2017: Cell
https://www.readbyqxmd.com/read/28802959/a-combined-tract-based-spatial-statistics-and-voxel-based-morphometry-study-of-the-first-mri-scan-after-diagnosis-of-amyotrophic-lateral-sclerosis-with-subgroup-analysis
#12
A R Alruwaili, K Pannek, A Coulthard, R Henderson, N D Kurniawan, P McCombe
BACKGROUND AND PURPOSE: This study aims to compare the cortical and subcortical deep gray matter (GM) and white matter (WM) of ALS subjects and controls and to compare ALS subjects with (ALScog) and without (ALSnon-cog) cognitive impairment. MATERIALS AND METHODS: The study was performed in 30 ALS subjects, and 19 healthy controls. Structural T1- and diffusion-weighted MRI data were analyzed using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS)...
August 9, 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28801400/protein-misfolding-amyotrophic-lateral-sclerosis-and-guanabenz-protocol-for-a-phase-ii-rct-with-futility-design-promise-trial
#13
Eleonora Dalla Bella, Irene Tramacere, Giovanni Antonini, Giuseppe Borghero, Margherita Capasso, Claudia Caponnetto, Adriano Chiò, Massimo Corbo, Roberto Eleopra, Massimiliano Filosto, Fabio Giannini, Enrico Granieri, Vincenzo La Bella, Christian Lunetta, Jessica Mandrioli, Letizia Mazzini, Sonia Messina, Maria Rosaria Monsurrò, Gabriele Mora, Nilo Riva, Romana Rizzi, Gabriele Siciliano, Vincenzo Silani, Isabella Simone, Gianni Sorarù, Paolo Volanti, Giuseppe Lauria
INTRODUCTION: Recent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28799854/proteomic-studies-in-the-discovery-of-cerebrospinal-fluid-biomarkers-for-amyotrophic-lateral-sclerosis
#14
Peggy Barschke, Patrick Oeckl, Petra Steinacker, Albert Ludolph, Markus Otto
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative motor neuron disease, which usually leads to death within a few years. The diagnosis is mainly based on clinical symptoms and there is a need for ALS-specific biomarkers to make an early and precise diagnosis, for development of disease-modifying drugs and to gain new insights into pathophysiology. Areas covered: In the present review, we summarize studies using mass spectrometric (MS) approaches to identify protein alterations in the cerebrospinal fluid (CSF) of ALS patients...
August 14, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28799809/nutrition-management-methods-effective-in-increasing-weight-survival-time-and-functional-status-in-als-patients-a-systematic-review
#15
Jaylin Kellogg, Lindsey Bottman, Erin J Arra, Stephen M Selkirk, Frances Kozlowski
Poor prognosis and decreased survival time correlate with the nutritional status of patients with amyotrophic lateral sclerosis (ALS). Various studies were reviewed which assessed weight, body mass index (BMI), survival time and ALS functional rating scale revised (ALSFRS-R) in order to determine the best nutrition management methods for this patient population. A systematic review was conducted using CINAHL, Medline, and PubMed, and various search terms in order to determine the most recent clinical trials and observational studies that have been conducted concerning nutrition and ALS...
August 11, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28799488/environment-and-neurodegenerative-diseases-an-update-on-mirna-role
#16
Margherita Ferrante, Gea Oliveri Conti
INTRODUCTION: The importance of neurodegenerative diseases on the management of public health is growing and the real role of the environment and miRNA in their occurrence is still unclear. miRNA can affect significantly the regulatory network. The complex variety and gene-regulatory capacity of miRNAs is particularly valuable in the brain, being a very complex organ with a functional specialization of neurons highly adaptable to environmental stimuli. In particular a miRNAs role is demonstrated in neurological diseases as the effect to toxic and mutagenic substances exposure by the environment...
August 11, 2017: MicroRNA
https://www.readbyqxmd.com/read/28799191/serum-proteome-in-a-sporadic-amyotrophic-lateral-sclerosis-geographical-cluster
#17
Stefano De Benedetti, Elisabetta Gianazza, Cristina Banfi, Alessandro Marocchi, Christian Lunetta, Silvana Penco, Francesco Bonomi, Stefania Iametti
PURPOSE: This study was meant to characterize the serum proteome in a small geographical cluster of sporadic ALS subjects originating from a restricted geographical area and sharing the same environmental exposure, in a broader context of evaluating the relevance of environmental factors to disease onset, status, and progression. EXPERIMENTAL DESIGN: An Artificial Neural Network based software was used to compare the relative abundance of proteins identified as different (by means of bi-dimensional electrophoresis and mass spectrometry) in the serum proteome of patients and age-matched healthy controls...
August 10, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28798889/functional-decline-is-associated-with-hopelessness-in-amyotrophic-lateral-sclerosis-als
#18
Sabrina Paganoni, Erin McDonnell, David Schoenfeld, Hong Yu, Jing Deng, Hamza Atassi, Alexander Sherman, Padmaja Yerramilli-Rao, Merit Cudkowicz, Nazem Atassi
OBJECTIVE: To determine the relationships between hopelessness, depression, quality of life, and disease progression in ALS. METHODS: Hopelessness and depression were assessed prospectively in a cohort of people with ALS using the Beck Hopelessness scale (BHS) and the ALS Depression Inventory (ADI-12), respectively. ALS Specific Quality of Life and measures of functional status (ALSFRS-R and forced vital capacity) were collected. Associations between changes in psychological health and functional scores were calculated using Spearman correlation coefficients...
April 2017: Journal of Neurology & Neurophysiology
https://www.readbyqxmd.com/read/28798720/commentary-amyotrophic-lateral-sclerosis-and-myasthenia-gravis-overlap-syndrome-a-review-of-two-cases-and-the-associated-literature
#19
COMMENT
Ian Paul Johnson, Patrizia Longone
No abstract text is available yet for this article.
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#20
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
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