keyword
MENU ▼
Read by QxMD icon Read
search

Als autoimmun

keyword
https://www.readbyqxmd.com/read/29740948/astrocytes-an-active-player-in-aicardi-gouti%C3%A3-res-syndrome
#1
Sunetra Sase, Asako Takanohashi, Adeline Vanderver, Akshata Almad
Aicardi-Goutières syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1/MDA5. The phenotypic presentation and pathophysiology of AGS is associated with over-production of the cytokine Interferon-alpha (IFN-α) and its downstream signaling, characterized as type I interferonopathy...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29736227/molecular-mechanisms-of-omega-3-fatty-acids-in-the-migraine-headache
#2
REVIEW
Neda Soveyd, Mina Abdolahi, Sama Bitarafan, Abbas Tafakhori, Payam Sarraf, Mansoureh Togha, Ali Asghar Okhovat, Mahsa Hatami, Mohsen Sedighiyan, Mahmoud Djalali, Niyaz Mohammadzadeh Honarvar
Migraine is a common chronic inflammatory neurological disease with the progressive and episodic course. Much evidence have shown a role of inflammation in the pathogenesis of migraine. Omega-3 fatty acids are an important components of cell membranes phospholipids. The intake of these fatty acids is related to decrease concentration of C-reactive protein (CRP), proinflammatory eicosanoids, cytokines, chemokines and other inflammation biomarkers. Many of clinical trials have shown the beneficial effect of dietary supplementation with omega-3 fatty acids in inflammatory and autoimmune diseases in human, including Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), multiple sclerosis (MS) and migraine headaches...
October 7, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/29713861/the-increasing-importance-of-environmental-conditions-in-amyotrophic-lateral-sclerosis
#3
REVIEW
Javier Riancho, Pilar Bosque-Varela, Sara Perez-Pereda, Mónica Povedano, Adolfo López de Munaín, Ana Santurtun
Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease affecting motor neurons (MNs). Although a small percentage of ALS has a familial origin, the vast majority of cases are sporadic in which genetic factors and environment interact with each other leading to disease onset in genetically predisposed individuals. In the current model of the disease, each individual has a determined genetic load, some degree of cell degeneration related to age and several risky environmental exposures...
April 30, 2018: International Journal of Biometeorology
https://www.readbyqxmd.com/read/29507414/single-cell-mass-cytometry-reveals-distinct-populations-of-brain-myeloid-cells-in-mouse-neuroinflammation-and-neurodegeneration-models
#4
Bahareh Ajami, Nikolay Samusik, Peter Wieghofer, Peggy P Ho, Andrea Crotti, Zach Bjornson, Marco Prinz, Wendy J Fantl, Garry P Nolan, Lawrence Steinman
Neuroinflammation and neurodegeneration may represent two poles of brain pathology. Brain myeloid cells, particularly microglia, play key roles in these conditions. We employed single-cell mass cytometry (CyTOF) to compare myeloid cell populations in the experimental autoimmune encephalomyelitis (EAE) model of multiple sclerosis, the R6/2 model of Huntington's disease (HD) and the mutant superoxide dismutase 1 (mSOD1) model of amyotrophic lateral sclerosis (ALS). We identified three myeloid cell populations exclusive to the CNS and present in each disease model...
April 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29249625/genetic-disorders-of-gh-action-pathway
#5
Horacio M Domené, Gustavo Fierro-Carrión
While insensitivity to GH (GHI) is characterized by low IGF-I levels, normal or elevated GH levels, and lack of IGF-I response to GH treatment, IGF-I resistance is characterized by elevated IGF-I levels with normal/high GH levels. Several genetic defects are responsible for impairment of GH and IGF-I actions resulting in short stature that could affect intrauterine growth or be present in the postnatal period. The genetic defects affecting GH and/or IGF-I action can be divided into five different groups: GH insensitivity by defects affecting the GH receptor (GHR), the intracellular GH signaling pathway (STAT5B, STAT3, IKBKB, IL2RG, PIK3R1), the synthesis of insulin-like growth factors (IGF1, IGF2), the transport/bioavailability of IGFs (IGFALS, PAPPA2), and defects affecting IGF-I sensitivity (IGF1R)...
February 2018: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29220677/a-powerful-approach-to-estimating-annotation-stratified-genetic-covariance-via-gwas-summary-statistics
#6
Qiongshi Lu, Boyang Li, Derek Ou, Margret Erlendsdottir, Ryan L Powles, Tony Jiang, Yiming Hu, David Chang, Chentian Jin, Wei Dai, Qidu He, Zefeng Liu, Shubhabrata Mukherjee, Paul K Crane, Hongyu Zhao
Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. Jointly modeling multiple traits' genetic profiles has provided insights into the shared genetic basis of many complex traits. However, large-scale inference sets a high bar for both statistical power and biological interpretability. Here we introduce a principled framework to estimate annotation-stratified genetic covariance between traits using GWAS summary statistics...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28811143/nadph-oxidases-as-drug-targets-and-biomarkers-in-neurodegenerative-diseases-what-is-the-evidence
#7
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)...
November 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28737506/microglia-and-c9orf72-in-neuroinflammation-and-als-and-frontotemporal-dementia
#8
REVIEW
Deepti Lall, Robert H Baloh
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss of motor neurons and shows clinical, pathological, and genetic overlap with frontotemporal dementia (FTD). Activated microglia are a universal feature of ALS/FTD pathology; however, their role in disease pathogenesis remains incompletely understood. The recent discovery that ORF 72 on chromosome 9 (C9orf72), the gene most commonly mutated in ALS/FTD, has an important role in myeloid cells opened the possibility that altered microglial function plays an active role in disease...
September 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28476168/dioxins-and-related-environmental-contaminants-increase-tdp-43-levels
#9
Peter E A Ash, Elizabeth A Stanford, Ali Al Abdulatif, Alejandra Ramirez-Cardenas, Heather I Ballance, Samantha Boudeau, Amanda Jeh, James M Murithi, Yorghos Tripodis, George J Murphy, David H Sherr, Benjamin Wolozin
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a debilitating neurodegenerative condition that is characterized by progressive loss of motor neurons and the accumulation of aggregated TAR DNA Binding Protein-43 (TDP-43, gene: TARDBP). Increasing evidence indicates that environmental factors contribute to the risk of ALS. Dioxins, related planar polychlorinated biphenyls (PCBs), and polycyclic aromatic hydrocarbons (PAHs) are environmental contaminants that activate the aryl hydrocarbon receptor (AHR), a ligand-activated, PAS family transcription factor...
May 5, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28105588/nogo-a-antibodies-for-progressive-multiple-sclerosis
#10
Benjamin V Ineichen, Patricia S Plattner, Nicolas Good, Roland Martin, Michael Linnebank, Martin E Schwab
Most of the current therapies, as well as many of the clinical trials, for multiple sclerosis (MS) target the inflammatory autoimmune processes, but less than 20% of all clinical trials investigate potential therapies for the chronic progressive disease stage of MS. The latter is responsible for the steadily increasing disability in many patients, and there is an urgent need for novel therapies that protect nervous system tissue and enhance axonal growth and/or remyelination. As outlined in this review, solid pre-clinical data suggest neutralization of the neurite outgrowth inhibitor Nogo-A as a potential new way to achieve both axonal and myelin repair...
March 2017: CNS Drugs
https://www.readbyqxmd.com/read/28097204/genomics-implicates-adaptive-and-innate-immunity-in-alzheimer-s-and-parkinson-s-diseases
#11
Sarah A Gagliano, Jennie G Pouget, John Hardy, Jo Knight, Michael R Barnes, Mina Ryten, Michael E Weale
OBJECTIVES: We assessed the current genetic evidence for the involvement of various cell types and tissue types in the etiology of neurodegenerative diseases, especially in relation to the neuroinflammatory hypothesis of neurodegenerative diseases. METHODS: We obtained large-scale genome-wide association study (GWAS) summary statistics from Parkinson's disease (PD), Alzheimer's disease (AD), and amyotrophic lateral sclerosis (ALS). We used multiple sclerosis (MS), an autoimmune disease of the central nervous system, as a positive control...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27913903/amyotrophic-lateral-sclerosis-and-myasthenia-gravis-association-or-chance-occurrence
#12
Silvia de Pasqua, Francesco Cavallieri, Roberto D'Angelo, Fabrizio Salvi, Nicola Fini, Roberto D'Alessandro, Rita Rinaldi, Antonio Fasano, Jessica Mandrioli
Very few cases of patients with myasthenia gravis (MG) who later developed amyotrophic lateral sclerosis (ALS) have been described, although some studies showed that significantly more cases than expected have ALS associated with a prior diagnosis of autoimmune diseases. Our aim was to investigate whether the association of ALS and MG was higher than expected in a population-based study and to describe the clinical features characterizing these patients. In Emilia Romagna Region of Italy, a prospective registry has been collecting all incident ALS cases since 1...
March 2017: Neurological Sciences
https://www.readbyqxmd.com/read/27881068/neuron-microglia-interactions-in-motor-neuron-degeneration-the-inflammatory-hypothesis-in-amyotrophic-lateral-sclerosis-revisited
#13
REVIEW
Manuel J Rodríguez, Nicole Mahy
Research onto the pathogenesis of amyotrophic lateral sclerosis (ALS) has obtained notable gene discoveries, although, to date, only progress with regard to treatment has been very modest. Currently ALS is considered a multifactorial disease that presents diverse clinical presentations, ranging from a monogenic inherited disease to an autoimmune pathology, and develops with misfolded protein aggregation and neuroinflammation. An important factor related to ALS pathogenesis is the microglial activation associated with degenerative motor neurons...
2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27723283/increased-incidence-of-amyotrophic-lateral-sclerosis-in-polymyositis-a-nationwide-cohort-study
#14
Chia-Chun Tseng, Shun-Jen Chang, Wen-Chan Tsai, Tsan-Teng Ou, Cheng-Chin Wu, Wan-Yu Sung, Ming-Chia Hsieh, Jeng-Hsien Yen
OBJECTIVE: Past studies have shown common pathologic characteristics and shared immunologic features between polymyositis (PM) and amyotrophic lateral sclerosis (ALS). To explore the potential relationship between the 2 diseases, we performed a nationwide cohort study. METHODS: We identified all newly diagnosed patients with PM from Taiwan's Registry of Catastrophic Illness Database between January 1, 1998 and December 31, 2011. Each PM patient was matched to ≤5 control patients from the National Health Insurance Research Database by sex, age, and entry date...
August 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/27683876/anti-sulfoglucuronosyl-paragloboside-antibody-a-potential-serologic-marker-of-amyotrophic-lateral-sclerosis
#15
Dongpei Li, Seigo Usuki, Brandy Quarles, Michael H Rivner, Toshio Ariga, Robert K Yu
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons. Although the etiology of ALS is obscure, genetic studies of familiar ALS suggest a multifactorial etiology for this condition. Similarly, there probably are multiple causes for sporadic ALS. Autoimmune-mediated motor neuron dysfunction is one proposed etiology for sporadic ALS. In the present study, anti-glycolipid antibodies including GM1, GD1b, GD3, and sulfoglucuronosyl paragloboside (SGPG) were investigated in the sera of a large number of patient samples, including 113 ALS patients and 50 healthy controls, by means of enzyme-linked immunosorbent assay with affinity parametric complex criterion evaluation and thin-layer chromatography immunooverlay (immuno-TLC)...
October 2016: ASN Neuro
https://www.readbyqxmd.com/read/27552392/what-s-in-the-literature
#16
Nicholas J Silvestri, Gil I Wolfe, David Lacomis, Mark B Bromberg
The Guillain-Barré syndrome (GBS) is one of the few neuropathies well known to the general public, in part because of its association with swine flu vaccinations in 1976. GBS has again reached the general public with its possible association with Zika virus. The virus, borne by infected Aedes aegypti mosquitos, is being linked to birth defects when pregnant women are bitten and infected. There are early reports also linking GBS to Zika infection, which could expose a wider range of infected people to the neuropathy...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27102004/unusual-association-of-amyotrophic-lateral-sclerosis-and-myasthenia-gravis-a-dysregulation-of-the-adaptive-immune-system
#17
Maria Del Mar Amador, Nadia Vandenberghe, Nawel Berhoune, Jean-Philippe Camdessanché, Sophie Gronier, Emilien Delmont, Claude Desnuelle, Pascal Cintas, Sophie Pittion, Sarah Louis, Sophie Demeret, Timothée Lenglet, Vincent Meininger, François Salachas, Pierre-François Pradat, Gaëlle Bruneteau
Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions that has been associated with a small increased risk of amyotrophic lateral sclerosis (ALS). Here, we describe a retrospective series of seven cases with a concomitant diagnosis of ALS and myasthenia gravis, collected among the 18 French reference centers for ALS in a twelve year period. After careful review, only six patients strictly met the diagnostic criteria for both ALS and myasthenia gravis. In these patients, limb onset of ALS was reported in five (83%) cases...
June 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26979938/c9orf72-ablation-causes-immune-dysregulation-characterized-by-leukocyte-expansion-autoantibody-production-and-glomerulonephropathy-in-mice
#18
Amanda Atanasio, Vilma Decman, Derek White, Meg Ramos, Burcin Ikiz, Hoi-Ching Lee, Chia-Jen Siao, Susannah Brydges, Elizabeth LaRosa, Yu Bai, Wen Fury, Patricia Burfeind, Ralica Zamfirova, Gregg Warshaw, Jamie Orengo, Adelekan Oyejide, Michael Fralish, Wojtek Auerbach, William Poueymirou, Jan Freudenberg, Guochun Gong, Brian Zambrowicz, David Valenzuela, George Yancopoulos, Andrew Murphy, Gavin Thurston, Ka-Man Venus Lai
The expansion of a hexanucleotide (GGGGCC) repeat in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both the function of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown. To examine whether C9ORF72 haploinsufficiency induces neurological disease, we created a C9orf72-deficient mouse line. Null mice developed a robust immune phenotype characterized by myeloid expansion, T cell activation, and increased plasma cells...
March 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/26905916/what-s-in-the-literature
#19
Nicholas J Silvestri, Gil I Wolfe, Mark Bromberg, David Lacomis
In this issue, we review clinical features associated with an elevated serum creatine kinase level found in a percentage of patients with amyotrophic lateral sclerosis (ALS). The treatment of ALS remains problematic, and issues with offerings on the internet for unregulated stem cell treatment and the movement for right-to-try experimental drugs are discussed. The last What's in the Literature? discussed information about recording from stimulating electrodes implanted in the diaphragm of ALS patients, and this issue discusses the results of a randomized trial using diaphragm pacing...
March 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/26819112/trauma-induzierter-pemphigus-eine-fallserie-von-36%C3%A2-patienten
#20
Maryam Daneshpazhooh, Mina Fatehnejad, Ziba Rahbar, Kamran Balighi, Narges Ghandi, Maryam Ghiasi, Robabeh Abedini, Vahideh Lajevardi, Cheyda Chams-Davatchi
HINTERGRUND UND ZIELE: Unter dem Begriff Pemphigus wird eine Gruppe von Autoimmunkrankheiten zusammengefasst, die durch intraepidermale akantholytische Blasen gekennzeichnet sind. Der isomorphe Reizeffekt, auch als Köbner-Phänomen (KP) bezeichnet, ist definiert als das Auftreten typischer Läsionen einer bestehenden Krankheit nach einem Trauma. Dies wird bei Pemphigus selten beobachtet. Unser Ziel war es, Patienten vorzustellen, die infolge einer Hautverletzung neue Pemphigus-Läsionen entwickelten...
February 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
keyword
keyword
18506
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"