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James Wymer, David R Borchelt
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July 13, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Dario Saracino, Fabienne Clot, Agnès Camuzat, Vincent Anquetil, Didier Hannequin, Lucie Guyant-Maréchal, Mira Didic, Léna Guillot-Noël, Daisy Rinaldi, Morwena Latouche, Sylvie Forlani, Yassaman Ghassab, Cinzia Coppola, Giuseppe Di Iorio, Isabelle David, Eric Le Guern, Alexis Brice, Isabelle Le Ber
Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant frontotemporal dementias associated with Paget's disease of bone, inclusion body myopathy, and amyotrophic lateral sclerosis. We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. This expands the VCP mutation spectrum and suggests that although VCP mutations are rare (3.5% in this study), the gene should be analyzed even in absence of the full syndromic complex...
June 30, 2018: Neurobiology of Aging
Erin G Conlon, Delphine Fagegaltier, Phaedra Agius, Julia Davis-Porada, James Gregory, Isabel Hubbard, Kristy Kang, Duyang Kim, Hemali Phatnani, Neil A Shneider, James L Manley
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions of the RNA binding protein (RBP) TDP-43, and often the presence of a GGGGCC expansion in the C9ORF72 (C9) gene. Previously we reported that the sequestration of hnRNP H altered the splicing of target transcripts in C9ALS patients (Conlon et al. 2016). Here we show that this signature also occurs in half of 50 post-mortem sporadic, non-C9 ALS/FTD brains...
July 13, 2018: ELife
Michelle Lindström, Beidong Liu
Fused in sarcoma (FUS) is a multifunctional DNA/RNA-binding protein predominantly localized in the cell nucleus. However, FUS has been shown to accumulate and form aggregates in the cytoplasm when mislocalized there due to mutations. These FUS protein aggregates are known as pathological hallmarks in a subset of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) cases. In this review, we discussed recent research developments on elucidating the molecular mechanisms behind FUS protein aggregation and toxicity...
2018: Frontiers in Molecular Neuroscience
Nimish J Thakore, Brittany R Lapin, Tyler G Kinzy, Erik P Pioro
OBJECTIVES: Propose an empirical amyotrophic lateral sclerosis (ALS) staging approach called Fine'til 9 (FT9) based on how many of the patient's ALS functional rating scale (ALSFRS-R) subscores are 9 or less (of normal 12). Gain insights into progression of ALS by applying Markov models to ALS stages by multiple systems (King's, Milan-Torino system (MITOS) and FT9). METHODS: Patients from the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) dataset were staged using ALSFRS-R responses...
July 12, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Matthias Augustin, Johannes Wimmer, Tilo Biedermann, Rolf Blaga, Christian Dierks, Vahid Djamei, Arno Elmer, Peter Elsner, Alexander Enk, Steffen Gass, Maike Henningsen, Rainer Hofman-Wellenhof, Ralph von Kiedrowski, Hans-Detlev Kunz, Claudia Liebram, Alexander Navarini, Marina Otten, Michael Reusch, Christine Schüller, Alexander Zink, Klaus Strömer
HINTERGRUND: Teledermatologische Anwendungen werden im deutschen Versorgungssystem in den nächsten Jahren erheblich an Bedeutung gewinnen. Das vorliegende Empfehlungspapier wurde als Expertenkonsens auf der Basis einer qualifizierten Literaturrecherche und eines strukturierten Entscheidungsprozesses der Autorengruppe entwickelt. ZIELSETZUNG: a) die IST-Analyse zum Einsatz der Telemedizin in der Dermatologie, b) die Bewertung der Evidenz ihres Nutzens und ihrer Sicherheit und, c) die Entwicklung von Verfahrensstandards für die ärztliche Praxis in den deutschsprachigen Ländern...
July 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
R Bhandari, A Kuhad, A Kuhad
Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a fatal motor neuron degenerative disorder leading to paralysis and eventual death. At present, we do not have any specific cure for this deadly disorder. Current drug therapy can only reduce morbidity in ALS patients. In 1995, riluzole was the first drug approved by the U.S. Food and Drug Administration (FDA) for ALS. After a long gap of 22 years, Mitsubishi Tanabe Pharma America got U.S. FDA approval for edaravone (Radicava) in May 2017 for the management of ALS...
June 2018: Drugs of Today
Batirtze Prats-Mateu, Martin Felhofer, Anna de Juan, Notburga Gierlinger
Background: Plant cell walls are nanocomposites based on cellulose microfibrils embedded in a matrix of polysaccharides and aromatic polymers. They are optimized for different functions (e.g. mechanical stability) by changing cell form, cell wall thickness and composition. To reveal the composition of plant tissues in a non-destructive way on the microscale, Raman imaging has become an important tool. Thousands of Raman spectra are acquired, each one being a spatially resolved molecular fingerprint of the plant cell wall...
2018: Plant Methods
D C Shen, B Hou, B Cui, X L Li, P Peng, H F Tai, K Zhang, S W Liu, H H Fu, M S Liu, F Feng, L Y Cui
Objective: To characterize the brain functional changes of amyotrophic lateral sclerosis (ALS) patients with various levels of cognitive impairment as measured by resting-state functional MRI (RS-fMRI). Methods: From September 2013 to March 2017, a total of 55 patients diagnosed with ALS in Peking Union Medical College Hospital and 20 healthy controls (HCs) were included in this study, and all participants underwent neuropsychological assessments and diffusion tensor imaging scans. According to their cognitive performance, ALS patients were further subclassified into ALS with normal cognition (ALS-Cn, n =27), those with cognitive impairment (ALS-Ci, n =17) and ALS-FTD ( n =11)...
July 3, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Viviana Greco, Alida Spalloni, Victor Corasolla Carregari, Luisa Pieroni, Silvia Persichilli, Nicola B Mercuri, Andrea Urbani, Patrizia Longone
Hydrogen sulfide (H₂S) is an endogenous gasotransmitter recognized as an essential body product with a dual, biphasic action. It can function as an antioxidant and a cytoprotective, but also as a poison with a high probability of causing brain damage when present at noxious levels. In a previous study, we measured toxic liquoral levels of H₂S in sporadic amyotrophic lateral sclerosis (ALS) patients and in the familial ALS (fALS) mouse model, SOD1G93A. In addition, we experimentally demonstrated that H₂S is extremely and selectively toxic to motor neurons, and that it is released by glial cells and increases Ca2+ concentration in motor neurons due to a lack of ATP...
July 10, 2018: Antioxidants (Basel, Switzerland)
Maryse Feron, Annabelle Couillandre, Eya Mseddi, Nicolas Termoz, Malek Abidi, Eric Bardinet, Daniel Delgadillo, Timothée Lenglet, Giorgia Querin, Marie-Laure Welter, Nadine Le Forestier, François Salachas, Gaelle Bruneteau, Maria Del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meininger, Mélanie Pélégrini-Issac, Peter Bede, Pierre-François Pradat, Giovanni de Marco
INTRODUCTION: Extrapyramidal deficits are poorly characterised in amyotrophic lateral sclerosis (ALS) despite their contribution to functional disability, increased fall risk and their quality-of-life implications. Given the concomitant pyramidal and cerebellar degeneration in ALS, the clinical assessment of extrapyramidal features is particularly challenging. OBJECTIVE: The comprehensive characterisation of postural instability in ALS using standardised clinical assessments, gait analyses and computational neuroimaging tools in a prospective study design...
July 11, 2018: Journal of Neurology
Cátia Gomes, Carolina Cunha, Filipe Nascimento, Joaquim A Ribeiro, Ana Rita Vaz, Dora Brites
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neuron (MN) loss. Recent evidences highlight astrocytes as important players in MN death, but the mechanism-based neurotoxicity is still unknown. It is also unclear whether activation of astrocytes in ALS occurs differently in the cerebral cortex and spinal cord. We investigated glial and neuronal alterations in the cortex of SOD1G93A (mSOD1) mice in pre-symptomatic and symptomatic stages. We also characterized astrocytes isolated from the cortex of 7-day-old mSOD1 mice for their aberrancy and MN-induced degenerative effects...
July 11, 2018: Molecular Neurobiology
Lisa Owens, Tonnie Warfield, Ryan MacDonald, Erudina Krenzischek
BACKGROUND: The identification of deep tissue pressure injury (DTPI) in the early stages of evolution presents a challenge, as skin compromise is only visually apparent when evidence of damage reaches its outer layers. CASE DESCRIPTION: We describe use of an alternative light source (ALS) to enhance visual skin assessment in 3 cases. Case 1 was a 47-year-old African American man with a hyperpigmented inner buttocks and a mixture of partial- and shallow full-thickness skin loss from incontinence-associated dermatitis and friction...
July 2018: Journal of Wound, Ostomy, and Continence Nursing
Cheng-Hong Yang, Yi-Kai Kao, Li-Yeh Chuang, Yu-Da Lin
Single-nucleotide polymorphism (SNP)-SNP interactions are crucial for understanding the as-sociation between disease-related multifactorials for disease analysis. Existing statistical methods for de-termining such interactions are limited by the consid-erable computation required for evaluating all poten-tial associations between disease-related multifactori-als. Identifying SNP-SNP interactions is thus a major challenge in genetic association studies. This study proposes a catfish Taguchi-based binary differential evolution (CT-BDE) algorithm for identifying SNP-SNP interactions...
June 6, 2018: IEEE Transactions on Nanobioscience
Naomi Tsuburaya, Kengo Homma, Tsunehiko Higuchi, Andrii Balia, Hiroyuki Yamakoshi, Norio Shibata, Seiichi Nakamura, Hidehiko Nakagawa, Shin-Ichi Ikeda, Naoki Umezawa, Nobuki Kato, Satoshi Yokoshima, Masatoshi Shibuya, Manabu Shimonishi, Hirotatsu Kojima, Takayoshi Okabe, Tetsuo Nagano, Isao Naguro, Keiko Imamura, Haruhisa Inoue, Takao Fujisawa, Hidenori Ichijo
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder. Despite its severity, there are no effective treatments because of the complexity of its pathogenesis. As one of the underlying mechanisms of Cu, Zn superoxide dismutase (SOD1) gene mutation-induced ALS, SOD1 mutants (SOD1mut ) commonly interact with an endoplasmic reticulum-resident membrane protein Derlin-1, triggering motoneuron death. However, the importance of SOD1-Derlin-1 interaction in in vitro human model and in vivo mouse model remains to be elucidated...
July 10, 2018: Nature Communications
Theodore C Larson, Wendy Kaye, Paul Mehta, D Kevin Horton
BACKGROUND: The International Classification of Disease, 10th Revision (ICD-10) did not include a code specific for Amyotrophic lateral sclerosis (ALS) until 2017. Instead, code G12.2 included both ALS and other motor neuron diseases (MND). Our objective was to determine US mortality rates for ALS exclusively by excluding other MND and progressive supranuclear palsy. METHODS: All mortality data coded as G12.2 under the pre-2017 rubric were obtained for 2011-2014...
July 10, 2018: Neuroepidemiology
Samira Shirooie, Seyed Fazel Nabavi, Ahmad R Dehpour, Tarun Belwal, Solomon Habtemariam, Sandro Argüelles, Antoni Sureda, Maria Daglia, Michał Tomczyk, Eduardo Sobarzo-Sanchez, Suowen Xu, Seyed Mohammad Nabavi
Neurodegenerative diseases (NDs) such as Parkinson's (PD), Alzheimer's (AD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) cause significant world-wide morbidity and mortality. To date, there is no drug of cure for these, mostly age-related diseases, although approaches in delaying the pathology and/or giving patients some symptomatic relief have been adopted for the last few decades. Various studies in recent years have shown the beneficial effects of omega-3 poly unsaturated fatty acids (PUFAs) through diverse mechanisms including anti-inflammatory effects...
July 7, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Shannon Niedermeyer, Michael Murn, Philip J Choi
Amyotrophic lateral sclerosis is a progressive neuromuscular disease characterized by both lower motor neuron and upper motor neuron dysfunction. While clinical presentations can vary, there is no cure for ALS and the disease is universally terminal, with most patients dying from respiratory complications. Patients die on average within 3-5 years of diagnosis, unless they choose to undergo tracheostomy, in which case, they may live on average 2 more years. Up to 95% with ALS in the United States choose not to undergo tracheostomy, so management of respiratory failure is aimed at both prolonging survival as well as improving quality of life...
July 7, 2018: Chest
Meinie Seelen, Rosario A Toro Campos, Jan H Veldink, Anne E Visser, Gerard Hoek, Bert Brunekreef, Anneke J van der Kooi, Marianne de Visser, Joost Raaphorst, Leonard H van den Berg, Roel C H Vermeulen
BACKGROUND: Recently, there has been increasing evidence that exposure to air pollution is linked to neurodegenerative diseases, but little is known about the association with amyotrophic lateral sclerosis (ALS). OBJECTIVES: We investigated the association between long-term exposure to air pollution and risk of developing ALS. METHODS: A population-based case-control study was conducted in Netherlands from 1 January 2006 to 1 January 2013...
September 27, 2017: Environmental Health Perspectives
Yu Zhu, Mi Yang, Fangjun Li, Menghua Li, Zhenzhen Xu, Fang Yang, Yue Liu, Wenzhi Chen, Yougen Zhang, Renshi Xu
Evidences suggest that Cystatin C (Cys C) levels might be a biomarker in amyotrophic lateral sclerosis (ALS) diagnosis, but the conclusion is still in doubts. We conducted a systematic review and meta analysis of Cys C levels in cerebrospinal cord fluid (CSF) and peripheral blood of patients with ALS in order to further confirm whether or not Cys C levels is a biomarker in ALS diagnosis. The English relevant studies without year limitation were systematically searched in PubMed, EMBASE, Web of Science databases...
2018: International Journal of Biological Sciences
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