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https://www.readbyqxmd.com/read/27930937/advances-in-myelinating-glial-cell-development
#1
REVIEW
Amy L Herbert, Kelly R Monk
In the vertebrate nervous system, the fast conduction of action potentials is potentiated by the myelin sheath, a multi-lamellar, lipid-rich structure that also provides vital trophic and metabolic support to axons. Myelin is elaborated by the plasma membrane of specialized glial cells, oligodendrocytes in the central nervous system (CNS) and Schwann cells (SCs) in the peripheral nervous system (PNS). The diseases that result from damage to myelin or glia, including multiple sclerosis and Charcot-Marie-Tooth disease, underscore the importance of these cells for human health...
December 5, 2016: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/27918067/systematic-approach-to-understanding-the-pathogenesis-of-systemic-sclerosis
#2
REVIEW
Xiao Xia Zuo, Li Hua Zhang, Hui Luo, Yisha Li, Honglin Zhu
Systemic sclerosis (SSc) is a complex heterogeneous autoimmune disease. Progressive organ fibrosis is a major contributor to SSc mortality. Despite extensive efforts, the underlying mechanism of SSc remains unclear. Efforts to understand the pathogenesis of SSc have included genomics, epigenetics, transcriptomic, proteomic and metabolomic studies in the last decade. This review focuses on recent studies in SSc research based on multi-omics. The combination of these technologies can help us understand the pathogenesis of SSc...
December 5, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27911122/an-update-on-the-use-of-cerebrospinal-fluid-analysis-as-a-diagnostic-tool-in-multiple-sclerosis
#3
Matteo Gastaldi, Elisabetta Zardini, Diego Franciotta
Intrathecal B-lymphocyte activation is a hallmark of multiple sclerosis (MS), a multi-factorial inflammatory-demyelinating disease of the central nervous system. Such activation has a counterpart in the cerebrospinal fluid (CSF) oligoclonal IgG bands (OCB), whose diagnostic role in MS has been downgraded within the current McDonald's criteria. With a theoretico-practical approach, the authors review the physiopathological basis of the CSF dynamics, and the state-of-the-art of routine CSF analysis and CSF biomarkers in MS...
December 2, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27892702/slowly-progressive-motor-neuron-disease-with-multi-system-involvement-related-to-p-e121g-sod1-mutation
#4
Guillaume Taieb, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Serge Lumbroso, Kevin Mouzat, William Camu
We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27885448/cognitive-dysfunction-in-patients-with-multiple-sclerosis-treated-with-first-line-disease-modifying-therapy-a-multi-center-controlled-study-using-the-bicams-battery
#5
Bilge Piri Cinar, Görkem Kösehasanoğulları, Pinar Yigit, Serkan Ozakbas
Multiple sclerosis (MS) can impair cognitive functions even in the early stages. The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) battery is very short and highly sensitive and can be used to evaluate cognitive status in the disease. Several clinical trials have shown beneficial effects of disease-modifying drugs (DMDs) on long-term cognitive measures which may even reduce cognitive deficits in MS patients. Relapsing remitting MS patients using DMDs were enrolled in the study and monitored for 12 months...
November 24, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27872810/the-association-between-intra-and-juxta-cortical-pathology-and-cognitive-impairment-in-multiple-sclerosis-by-quantitative-t2-mapping-at-7%C3%A2-t-mri
#6
Céline Louapre, Sindhuja T Govindarajan, Costanza Giannì, Nancy Madigan, A Scott Nielsen, Jacob A Sloane, Revere P Kinkel, Caterina Mainero
Using quantitative T2* at 7 Tesla (T) magnetic resonance imaging, we investigated whether impairment in selective cognitive functions in multiple sclerosis (MS) can be explained by pathology in specific areas and/or layers of the cortex. Thirty-one MS patients underwent neuropsychological evaluation, acquisition of 7 T multi-echo T2* gradient-echo sequences, and 3 T anatomical images for cortical surfaces reconstruction. Seventeen age-matched healthy subjects served as controls. Cortical T2* maps were sampled at various depths throughout the cortex and juxtacortex...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27872808/delineation-of-cortical-pathology-in-multiple-sclerosis-using-multi-surface-magnetization-transfer-ratio-imaging
#7
David A Rudko, Mishkin Derakhshan, Josefina Maranzano, Kunio Nakamura, Douglas L Arnold, Sridar Narayanan
The purpose of our study was to evaluate the utility of measurements of cortical surface magnetization transfer ratio (csMTR) on the inner, mid and outer cortical boundaries as clinically accessible biomarkers of cortical gray matter pathology in multiple sclerosis (MS). Twenty-five MS patients and 12 matched controls were recruited from the MS Clinic of the Montreal Neurological Institute. Anatomical and magnetization transfer ratio (MTR) images were acquired using 3 Tesla MRI at baseline and two-year time-points...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27862809/assessing-understanding-patients-prescribed-natalizumab-for-multiple-sclerosis-individual-risk-and-symptoms-of-progressive-multifocal-leukoencephalopathy
#8
Louise Rath, Nirosen Vijiaratnam, Olga Skibina
BACKGROUND: Natalizumab, a monoclonal antibody directed against α4 integrin, is a highly efficacious treatment commonly used in Relapsing Remitting Multiple Sclerosis (MS). Natalizumab is associated with the potentially fatal rare demyelinating opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Prognosis and disability from PML is determined by early diagnosis. Written tools are mandated in Australia and other prescribing countries with the aim to help patients understand the risks associated with treatment and ensure familiarity with the early symptoms of PML...
November 9, 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27855220/disease-type-and-status-specific-alteration-of-csf-metabolome-coordinated-with-clinical-parameters-in-inflammatory-demyelinating-diseases-of-cns
#9
Soo Jin Park, In Hye Jeong, Byung Soo Kong, Jung-Eun Lee, Kyoung Heon Kim, Do Yup Lee, Ho Jin Kim
Central nervous system (CNS) inflammatory demyelinating diseases (IDDs) are a group of disorders with different aetiologies, characterized by inflammatory lesions. These disorders include multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and idiopathic transverse myelitis (ITM). Differential diagnosis of the CNS IDDs still remains challenging due to frequent overlap of clinical and radiological manifestation, leading to increased demands for new biomarker discovery. Since cerebrospinal fluid (CSF) metabolites may reflect the status of CNS tissues and provide an interfacial linkage between blood and CNS tissues, we explored multi-component biomarker for different IDDs from CSF samples using gas chromatography mass spectrometry-based metabolite profiling coupled to multiplex bioinformatics approach...
2016: PloS One
https://www.readbyqxmd.com/read/27854227/do-psychosocial-interventions-improve-quality-of-life-and-wellbeing-in-adults-with-neuromuscular-disorders-a-systematic-review-and-narrative-synthesis
#10
Elaine Walklet, Kate Muse, Jane Meyrick, Tim Moss
Quality of life and well-being are frequently restricted in adults with neuromuscular disorders. As such, identification of appropriate interventions is imperative. The objective of this paper was to systematically review and critically appraise quantitative studies (RCTs, controlled trials and cohort studies) of psychosocial interventions designed to improve quality of life and well-being in adults with neuromuscular disorders. A systematic review of the published and unpublished literature was conducted. Studies meeting inclusion criteria were appraised using a validated quality assessment tool and results presented in a narrative synthesis...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27847465/the-many-faces-of-elongator-in-neurodevelopment-and-disease
#11
REVIEW
Marija Kojic, Brandon Wainwright
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons. Malfunction of these highly regulated and coordinated events results in various neurological diseases. The Elongator complex is a multi-subunit complex highly conserved in eukaryotes whose function has been implicated in the majority of cellular activities underlying neurodevelopment...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27834736/coduse-group-exercise-programme-improves-balance-and-reduces-falls-in-people-with-multiple-sclerosis-a-multi-centre-randomized-controlled-pilot-study
#12
Anna Carling, Anette Forsberg, Martin Gunnarsson, Ylva Nilsagård
BACKGROUND: Imbalance leading to falls is common in people with multiple sclerosis (PwMS). OBJECTIVE: To evaluate the effects of a balance group exercise programme (CoDuSe) on balance and walking in PwMS (Expanded Disability Status Scale, 4.0-7.5). METHODS: A multi-centre, randomized, controlled single-blinded pilot study with random allocation to early or late start of exercise, with the latter group serving as control group for the physical function measures...
November 10, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27828690/immunoglobulin-g4-related-thyroid-disorders-diagnostic-challenges-and-clinical-outcomes
#13
Deep Dutta, Arvind Ahuja, Chitra Selvan
Ig-G4 related disease (IgG4RD) is a heterogeneous disorder with multi-organ involvement recognised as a separate entity at the start of this century only. It is currently one of the hottest areas of clinical and translational research across specialties. Thyroid involvement in IgG4RD is rare, believed to occur in less than 4% of cases, may be isolated or may be associated with other organ involvement. As of today Riedel's thyroiditis, fibrosing variant of Hashimoto's thyroiditis, and few patients of Graves' orbitopathy represent the types of IgG4-related thyroid disease (IgG4RTD)...
2016: Endokrynologia Polska
https://www.readbyqxmd.com/read/27826224/graph-theory-based-brain-connectivity-for-automatic-classification-of-multiple-sclerosis-clinical-courses
#14
Gabriel Kocevar, Claudio Stamile, Salem Hannoun, François Cotton, Sandra Vukusic, Françoise Durand-Dubief, Dominique Sappey-Marinier
Purpose: In this work, we introduce a method to classify Multiple Sclerosis (MS) patients into four clinical profiles using structural connectivity information. For the first time, we try to solve this question in a fully automated way using a computer-based method. The main goal is to show how the combination of graph-derived metrics with machine learning techniques constitutes a powerful tool for a better characterization and classification of MS clinical profiles. Materials and Methods: Sixty-four MS patients [12 Clinical Isolated Syndrome (CIS), 24 Relapsing Remitting (RR), 24 Secondary Progressive (SP), and 17 Primary Progressive (PP)] along with 26 healthy controls (HC) underwent MR examination...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#15
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27806057/occurrence-of-anti-drug-antibodies-against-interferon-beta-and-natalizumab-in-multiple-sclerosis-a-collaborative-cohort-analysis
#16
Delphine Bachelet, Signe Hässler, Cyprien Mbogning, Jenny Link, Malin Ryner, Ryan Ramanujam, Michael Auer, Poul Erik Hyldgaard Jensen, Nils Koch-Henriksen, Clemens Warnke, Kathleen Ingenhoven, Dorothea Buck, Verena Grummel, Andy Lawton, Naoimh Donnellan, Agnès Hincelin-Mery, Dan Sikkema, Marc Pallardy, Bernd Kieseier, Bernard Hemmer, Hans Peter Hartung, Per Soelberg Sorensen, Florian Deisenhammer, Pierre Dönnes, Julie Davidson, Anna Fogdell-Hahn, Philippe Broët
Immunogenicity of biopharmaceutical products in multiple sclerosis is a frequent side effect which has a multifactorial etiology. Here we study associations between anti-drug antibody (ADA) occurrence and demographic and clinical factors. Retrospective data from routine ADA test laboratories in Sweden, Denmark, Austria and Germany (Dusseldorf group) and from one research study in Germany (Munich group) were gathered to build a collaborative multi-cohort dataset within the framework of the ABIRISK project. A subset of 5638 interferon-beta (IFNβ)-treated and 3440 natalizumab-treated patients having data on at least the first two years of treatment were eligible for interval-censored time-to-event analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27797139/tuberous-sclerosis-complex-from-molecular-biology-to-novel-therapeutic-approaches
#17
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Tuberous sclerosis complex (TSC) is a rare multi-system disorder, primary manifestations of which are benign tumors and lesions in various organs of the body, including the brain. TSC patients often suffer from epilepsy, mental retardation, and autism spectrum disorder (ASD). Therefore, TSC serves as a model of epilepsy, ASD, and tumorigenesis. TSC is caused by the lack of functional Tsc1-Tsc2 complex, which serves as a major cellular inhibitor of mammalian Target of Rapamycin Complex 1 (mTORC1). mTORC1 is a kinase controlling most of anabolic processes in eukaryotic cells...
October 31, 2016: IUBMB Life
https://www.readbyqxmd.com/read/27796790/grape-a-graphical-pipeline-environment-for-image-analysis-in-adaptive-magnetic-resonance-imaging
#18
Refaat E Gabr, Getaneh B Tefera, William J Allen, Amol S Pednekar, Ponnada A Narayana
PURPOSE: We present a platform, GRAphical Pipeline Environment (GRAPE), to facilitate the development of patient-adaptive magnetic resonance imaging (MRI) protocols. METHODS: GRAPE is an open-source project implemented in the Qt C++ framework to enable graphical creation, execution, and debugging of real-time image analysis algorithms integrated with the MRI scanner. The platform provides the tools and infrastructure to design new algorithms, and build and execute an array of image analysis routines, and provides a mechanism to include existing analysis libraries, all within a graphical environment...
October 28, 2016: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/27786306/fully-automated-grey-and-white-matter-spinal-cord-segmentation
#19
Ferran Prados, M Jorge Cardoso, Marios C Yiannakas, Luke R Hoy, Elisa Tebaldi, Hugh Kearney, Martina D Liechti, David H Miller, Olga Ciccarelli, Claudia A M Gandini Wheeler-Kingshott, Sebastien Ourselin
Axonal loss in the spinal cord is one of the main contributing factors to irreversible clinical disability in multiple sclerosis (MS). In vivo axonal loss can be assessed indirectly by estimating a reduction in the cervical cross-sectional area (CSA) of the spinal cord over time, which is indicative of spinal cord atrophy, and such a measure may be obtained by means of image segmentation using magnetic resonance imaging (MRI). In this work, we propose a new fully automated spinal cord segmentation technique that incorporates two different multi-atlas segmentation propagation and fusion techniques: The Optimized PatchMatch Label fusion (OPAL) algorithm for localising and approximately segmenting the spinal cord, and the Similarity and Truth Estimation for Propagated Segmentations (STEPS) algorithm for segmenting white and grey matter simultaneously...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27780253/il-12-il-23p40-is-highly-expressed-in-secondary-lymphoid-organs-and-the-cns-during-all-stages-of-eae-but-its-deletion-does-not-affect-disease-perpetuation
#20
Petra D Cravens, Rehana Z Hussain, William A Miller-Little, Li-Hong Ben, Benjamin M Segal, Emily Herndon, Olaf Stüve
BACKGROUND: Interleukin (IL)-12 and IL-23 are heterodimers that share the p40 subunit, and both cytokines are critical in the differentiation of T helper (Th)1 and Th17 cells, respectively. Th1 and Th17 effector cells have been implicated in the pathogenesis of experimental autoimmune encephalitis (EAE), an animal model of the human central nervous system (CNS) autoimmune demyelinating disorder multiple sclerosis (MS). However, ustekinumab, a monoclonal antibody (mAb) against p40 failed to show efficacy over placebo in a phase II clinical trial in patients with MS...
2016: PloS One
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