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https://www.readbyqxmd.com/read/29036910/melatonin-treatment-reduces-oxidative-damage-and-normalizes-plasma-pro-inflammatory-cytokines-in-patients-suffering-from-charcot-marie-tooth-neuropathy-a-pilot-study-in-three-children
#1
Mariam Chahbouni, María Del Señor López, Antonio Molina-Carballo, Tomás de Haro, Antonio Muñoz-Hoyos, Marisol Fernández-Ortiz, Ana Guerra-Librero, Darío Acuña-Castroviejo
Charcot-Marie-Tooth neuropathy (CMT) is a motor and sensory neuropathy comprising a heterogeneous group of inherited diseases. The CMT1A phenotype is predominant in the 70% of CMT patients, with nerve conduction velocity reduction and hypertrophic demyelination. These patients have elevated oxidative stress and chronic inflammation. Currently, there is no effective cure for CMT; herein, we investigated whether melatonin treatment may reduce the inflammatory and oxidative damage in CMT1A patients. Three patients, aged 8-10 years, were treated with melatonin (60 mg at 21:00 h plus 10 mg at 09:00 h), and plasma levels of lipid peroxidation (LPO), nitrites (NOx), IL-1β, IL-2, IL-6, TNF-α, INF-γ, oxidized to reduced glutathione (GSSG/GSH) ratio, and the activities of superoxide dismutase (SOD), glutathione-S transferase (GST), glutathione peroxidase (GPx), and reductase (GRd), were determined in erythrocytes at 3 and 6 months of treatment...
October 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29034884/generation-of-six-multiple-sclerosis-patient-derived-induced-pluripotent-stem-cell-lines
#2
L Miquel-Serra, A Duarri, Y Muñoz, B Kuebler, B Aran, C Costa, M Martí, M Comabella, S Malhotra, X Montalban, A Veiga, A Raya
Multiple sclerosis (MS) is considered a chronic autoimmune disease of the central nervous system that leads to gliosis, demyelination, axonal damage and neuronal death. The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS. Using retroviral delivery of reprogramming transgenes, we generated six MS patient-specific iPSC lines with two distinct genotypes, CC or TT, of the polymorphism rs1800693. iPSC lines had normal karyotype, expressed pluripotency genes and differentiated into the three germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034641/-establishment-of-l-periaxin-gene-knock-out-rsc96-cell-line
#3
Min Liang, Tingting Peng, Yawei Shi
Periaxin, a protein of noncompact myelin, is specifically expressed in the peripheral nervous system (PNS). There are two protein isoform L-periaxin and S-Periaxin by alternative splicing of periaxin gene, playing an important role in the initiation of myelin formation. So far, 18 different mutation sites in L-periaxin gene have been found to induce the peripheral demyelinating neurological charcot-marie-tooth diseases subtype 4F (CMT4F). The technique of activation of transcription activator-like effector nucleases (TALENS) was used to knock out the L-periaxin gene in RSC 96 cell line of Rattus...
December 25, 2016: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://www.readbyqxmd.com/read/29034454/successful-treatment-of-sapho-syndrome-with-apremilast
#4
S Adamo, J Nilsson, A Krebs, U Steiner, A Cozzio, L E French, A G A Kolios
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease with inflammatory osteoarticular and skin involvement. The pathogenesis of SAPHO syndrome remains unclear, but evidence suggests it may be an autoinflammatory disease triggered upon exposure to infectious agents in genetically predisposed individuals. Induction of the IL-23/Th17 axis as well as neutrophil activation seem to play a key role, and therapies targeting these immunological pathways, including TNF-inhibitors, ustekinumab, secukinumab and the IL-1 inhibitor anakinra are potential treatment options that need further investigation...
October 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29034435/advances-in-the-treatment-of-paraproteinemic-neuropathy
#5
REVIEW
Eduardo Nobile-Orazio, Mariangela Bianco, Andrea Nozza
Purpose of review Several advances have been made on the pathogenesis and therapy of neuropathies associated with paraproteinemia (monoclonal gammopathy). It is important for the neurologist to understand the pathogenetic relevance of this association especially when the hematological disease does not require per se any therapy. Recent findings Treatment of the neuropathy in patients with malignant paraproteinemia is mainly addressed by the hematologist while the neurologist is mainly involved in the initial diagnosis and in deciding whether the neuropathy is caused by the disease or by the chemotherapy used for the disease...
October 16, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29033729/use-of-rocuronium-and-sugammadex-under-neuromuscular-transmission-monitoring-in-a-patient-with-multiple-sclerosis
#6
Chryssoula Staikou, Martina Rekatsina
Multiple sclerosis (MS) is a potentially disabling disease characterized by demyelinating lesions in the central nervous system. One of the anesthetic challenges encountered in surgical patients with MS is the management of neuromuscular blockade (NMB) and its reversal. We report a case of a 31-year-old female patient suffering from MS, who underwent gynecological surgery under general anesthesia with sevoflurane, fentanyl, and rocuronium which was successfully reversed with sugammadex. Neuromuscular transmission (NMT) monitoring was used to guide the intraoperative doses of rocuronium and also the reversal of NMB by the use of sugammadex to ensure a safe tracheal extubation...
October 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29032462/association-of-tnfsf4-polymorphisms-with-neuromyelitis-optica-spectrum-disorders-in-a-chinese-population
#7
Zhiyun Lian, Ju Liu, Ziyan Shi, Hongxi Chen, Qin Zhang, Huiru Feng, Qin Du, Xiaohui Miao, Hongyu Zhou
The tumor necrosis factor ligand superfamily member 4 (TNFSF4) gene encodes a vital co-stimulatory molecule of the immune system and has been identified as a susceptibility locus for systemic lupus erythematosus, systemic sclerosis, and primary Sjögren's syndrome. However, the association of TNFSF4 polymorphisms with neuromyelitis optica spectrum disorders (NMOSD), an inflammatory, demyelinating autoimmune disease of the central nervous system, has not yet been investigated. To evaluate whether TNFSF4 polymorphisms contribute to risk of NMOSD, four single-nucleotide polymorphisms (SNPs) (rs1234315, rs2205960, rs704840, and rs844648) were selected and genotyped in a cohort of 312 patients with NMOSD and 487 healthy controls...
October 14, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29029896/clemastine-fumarate-as-a-remyelinating-therapy-for-multiple-sclerosis-rebuild-a-randomised-controlled-double-blind-crossover-trial
#8
Ari J Green, Jeffrey M Gelfand, Bruce A Cree, Carolyn Bevan, W John Boscardin, Feng Mei, Justin Inman, Sam Arnow, Michael Devereux, Aya Abounasr, Hiroko Nobuta, Alyssa Zhu, Matt Friessen, Roy Gerona, Hans Christian von Büdingen, Roland G Henry, Stephen L Hauser, Jonah R Chan
BACKGROUND: Multiple sclerosis is a degenerative inflammatory disease of the CNS characterised by immune-mediated destruction of myelin and progressive neuroaxonal loss. Myelin in the CNS is a specialised extension of the oligodendrocyte plasma membrane and clemastine fumarate can stimulate differentiation of oligodendrocyte precursor cells in vitro, in animal models, and in human cells. We aimed to analyse the efficacy and safety of clemastine fumarate as a treatment for patients with multiple sclerosis...
October 10, 2017: Lancet
https://www.readbyqxmd.com/read/29027376/adenosine-a2a-receptor-agonist-ameliorates-eae-and-correlates-with-th1-cytokine-induced-blood-brain-barrier-dysfunction-via-suppression-of-mlck-signaling-pathway
#9
Ying Liu, Marwan Alahiri, Bianca Ulloa, Boxun Xie, Saud A Sadiq
INTRODUCTION: Multiple sclerosis (MS) disease activity is associated with blood-brain barrier (BBB) disruption, which is mediated by inflammatory cytokines released by CD4+ lymphocytes. To assess the effects of adenosine A2A receptors on BBB permeability in vitro and in vivo. METHODS: A2A receptor expression was detected by immunostaining in experimental autoimmune encephalomyelitis (EAE) C57BL/6 mice immunized with myelin oligodendrocyte glycoprotein (MOG)35-55 , and human MS brain...
October 12, 2017: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/29026001/understanding-a-role-for-hypoxia-in-lesion-formation-and-location-in-the-deep-and-periventricular-white-matter-in-small-vessel-disease-and-multiple-sclerosis
#10
REVIEW
Santiago Martinez Sosa, Kenneth J Smith
The deep and periventricular white matter is preferentially affected in several neurological disorders, including cerebral small vessel disease (SVD) and multiple sclerosis (MS), suggesting that common pathogenic mechanisms may be involved in this injury. Here we consider the potential pathogenic role of tissue hypoxia in lesion development, arising partly from the vascular anatomy of the affected white matter. Specifically, these regions are supplied by a sparse vasculature fed by long, narrow end arteries/arterioles that are vulnerable to oxygen desaturation if perfusion is reduced (as in SVD, MS and diabetes) or if the surrounding tissue is hypoxic (as in MS, at least)...
October 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29025774/posterior-fossa-progressive-multifocal-leukoencephalopathy-first-presentation-of-an-unknown-autoimmune-disease
#11
Paulette Scholten, Peter Kralt, Bram Jacobs
We present a case of a 57-year-old man who presented with progressive cerebellar dysarthria and cerebellar ataxia. Additional investigations confirmed the diagnosis of progressive multifocal leukoencephalopathy (PML) in the posterior fossa. This is a demyelinating disease of the central nervous system, caused by an opportunistic infection with John Cunningham virus. PML has previously been considered a lethal condition, but because of careful monitoring of patients with HIV and of patients using immunosuppressive drugs it is discovered in earlier stages and prognosis can be improved...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29022246/alpha-lipoic-acid-mitigates-toxic-induced-demyelination-in-the-corpus-callosum-by-lessening-of-oxidative-stress-and-stimulation-of-polydendrocytes-proliferation
#12
Nima Sanadgol, Fereshteh Golab, Hassan Askari, Fatemeh Moradi, Marziyeh Ajdary, Mehdi Mehdizadeh
Multiple Sclerosis (MS), is a disease that degenerates myelin in central nervous system (CNS). Reactive oxygen species (ROSs) are toxic metabolites, and accumulating data indicate that ROSs-mediated apoptosis of oligodendrocytes (OLGs) plays a major role in the pathogenesis of MS under oxidative stress conditions. In this study, we investigated the role of endogenous antioxidant alpha-lipoic acid (ALA) as ROSs scavenger in the OLGs loss and myelin degeneration during cuprizone (cup)-induced demyelination in the experimental model of MS...
October 12, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29020245/guillain-barr%C3%A3-syndrome-associated-with-zika-virus-infection-in-martinique-in-2016-a-prospective-study
#13
Benoît Rozé, Fatiha Najioullah, Jean-Louis Fergé, Frédérique Dorléans, Kossivi Apetse, Jose-Luis Barnay, Elise Daudens-Vaysse, Yannick Brouste, Raymond Césaire, Laurence Fagour, Ruddy Valentino, Martine Ledrans, Hossein Mehdaoui, Sylvie Abel, Isabelle Leparc-Goffart, Aissatou Signate, André Cabié
Background: Guillain-Barré syndrome (GBS) has been reported to be associated with Zika virus (ZIKV) infection in case reports and retrospective studies, mostly on the basis of serological tests, with the problematic cross-reacting antibodies of the Flavivirus genus. Some GBS cases do not exhibit a high level of diagnostic certainty. This prospective study aimed to describe the clinical profiles and the frequency of GBS associated with ZIKV during the ZIKV outbreak in Martinique in 2016...
July 20, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29019147/mri-and-multiple-sclerosis-the-evolving-role-of-mri-in-the-diagnosis-and-management-of-ms-a-clinician-s-perspective
#14
H Kearney, A M Cahalane, R P Killeen, C McGuigan
The diagnosis of multiple sclerosis (MS) is based on a history consistent with demyelination of the central nervous system and corresponding physical signs on examination. However, this diagnosis is supported radiologically using magnetic resonance imaging (MRI). At present, MRI serves as the most reliable and widely available biomarker for the practising clinician to measure disease activity and treatment response in MS. As MRI remains central to both the diagnosis and management of MS, this paper provides proposed guidelines for its use in routine clinical practice...
October 10, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29018331/distinctive-roles-for-%C3%AE-7-and-%C3%AE-9-nicotinic-acetylcholine-receptors-in-inflammatory-and-autoimmune-responses-in-the-murine-experimental-autoimmune-encephalomyelitis-model-of-multiple-sclerosis
#15
Qiang Liu, Paul Whiteaker, Barbara J Morley, Fu-Dong Shi, Ronald J Lukas
Previous studies have demonstrated immunosuppressive and anti-inflammatory effects of nicotine, including in the experimental autoimmune encephalomyelitis (EAE) model in mice of some forms of multiple sclerosis (MS). Other studies using knock-out (KO) mice have implicated nicotinic acetylcholine (ACh) receptors containing α7, α9, or β2 subunits (α7*-, α9*- or β2*-nAChR) in different, disease-exacerbating or disease-ameliorating processes. These outcomes are in harmony with gene expression analyses showing nAChR subunit mRNA in many classes of immune system cell types...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28992796/subcortical-gray-matter-atrophy-is-associated-with-cognitive-deficit-in-multiple-sclerosis-but-not-in-systemic-lupus-erythematosus-patients
#16
A Kalinowska-Łyszczarz, M A Pawlak, A Pietrzak, K Pawlak-Buś, P Leszczyński, M Puszczewicz, D Majewski, W Paprzycki, W Kozubski, S Michalak
Cognitive impairment is a significant clinical problem both in multiple sclerosis (MS) and systemic lupus erythematosus (SLE) patients. In MS cognitive dysfunction has been associated with brain atrophy and total demyelinating lesion volume. In SLE cognitive impairment is much less understood, and its link to structural brain damage remains to be established. The aim of this study was to identify the relationship between subcortical gray matter volume and cognitive impairment in MS and SLE. We recruited 37 MS and 38 SLE patients matched by age, disease duration and educational level...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28990564/-mirnas-new-actors-in-the-physiopathology-of-multiple-sclerosis
#17
Ferdinand Jagot, Nathalie Davoust
Multiple sclerosis (MS) is an auto-immune demyelinating disorder characterized by a chronic neuro-inflammatory process associated with an infiltration of the central nervous system (CNS) by autoreactive lymphocytes. The etiology of the disease remains unclear but the recent discovery of a dysregulated miRNA network in both cells and extracellular fluids of MS patients has brought new insights on the pathophysiological mechanisms involved in this disorder. miRNAs can induce a T cell polarization towards a pathological Th17 or Th1 phenotype and a deleterious activation of microglia, the CNS-resident macrophages...
June 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28990252/differential-brainstem-atrophy-patterns-in-multiple-sclerosis-and-neuromyelitis-optica-spectrum-disorders
#18
Chi-Yan Lee, Henry Ka-Fung Mak, Pui-Wai Chiu, Hing-Chiu Chang, Frederik Barkhof, Koon-Ho Chan
BACKGROUND: Multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD) are central nervous system (CNS) inflammatory demyelinating disorders. It is clinically important to distinguish MS from NMOSD, as treatment and prognosis differ. Brainstem involvement is common in both disorders. PURPOSE: To investigate whether the patterns of brainstem atrophy on volumetric analysis in MS and NMOSD were different and correlated with clinical disability. STUDY TYPE: Case-control cross-sectional study...
October 9, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28989857/jc-polyomavirus-attachment-and-entry-potential-sites-for-pml-therapeutics
#19
Colleen L Mayberry, Christian D S Nelson, Melissa S Maginnis
PURPOSE OF REVIEW: JC polyomavirus (JCPyV) is a significant human pathogen that causes an asymptomatic infection in the kidney in the majority of the population. In immunosuppressed individuals, the virus can become reactivated and spread to the brain, causing the fatal, demyelinating disease progressive multifocal leukoencephalopathy (PML). There are currently limited treatment options for this fatal disease. Attachment to receptors and entry into host cells are the initiating events in JCPyV infection and therefore an attractive target for therapeutics to prevent or treat PML...
September 2017: Current Clinical Microbiology Reports
https://www.readbyqxmd.com/read/28987645/tumefactive-demyelinating-lesions-tdls-a-case-series-of-clinicoradiological-features
#20
Rajendra Singh Jain, Ibraheem Khan, Kapil Kandelwal, Tushar Desai
OBJECTIVE: Diagnosis of tumefactive demyelination lesions (TDLs) is challenging to neurophysician, neuroradiologist or neurosurgeon. Our objective in this study was to analyze clinicoradiological features of TDLs. PATIENTS AND METHOD: A retrospective analysis with prospective follow-up of 11 cases of TDLs was performed. Study was conducted in the neurology department of a tertiary care centre of North-West India from August 2014 to March 2017. MRI of brain and cervical spine with contrast, visual evoked potential, oligoclonal bands, serum anti-AQP4 antibody and MRS performed in most of the patients...
September 29, 2017: Clinical Neurology and Neurosurgery
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