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https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#1
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28741711/diffusion-tensor-imaging-in-multiple-sclerosis-at-different-final-outcomes
#2
O Andersen, A Hildeman, M Longfils, H Tedeholm, B Skoog, W Tian, J Zhong, S Ekholm, L Novakova, B Runmarker, O Nerman, S E Maier
OBJECTIVES: Methods to evaluate the relative contributions of demyelination vs axonal degeneration over the long-term course of MS are urgently needed. We used magnetic resonance diffusion tensor imaging (DTI) to estimate degrees of demyelination and axonal degeneration in the corpus callosum (CC) in cases of MS with different final outcomes. MATERIALS AND METHODS: We determined DTI measures mean diffusivity (MD), fractional anisotropy (FA), and axial (AD) and radial (RD) diffusivities in the CC of 31 MS patients, of whom 13 presented a secondary progressive course, 11 a non-progressive course, and seven a monophasic course...
July 25, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28738878/tlr4-response-mediates-ethanol-induced-neurodevelopment-alterations-in-a-model-of-fetal-alcohol-spectrum-disorders
#3
María Pascual, Jorge Montesinos, Sandra Montagud-Romero, Jerónimo Forteza, Marta Rodríguez-Arias, José Miñarro, Consuelo Guerri
BACKGROUND: Inflammation during brain development participates in the pathogenesis of early brain injury and cognitive dysfunctions. Prenatal ethanol exposure affects the developing brain and causes neural impairment, cognitive and behavioral effects, collectively known as fetal alcohol spectrum disorders (FASD). Our previous studies demonstrate that ethanol activates the innate immune response and TLR4 receptor and causes neuroinflammation, brain damage, and cognitive defects in the developmental brain stage of adolescents...
July 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28738725/seeding-nerve-sutures-with-minced-nerve-graft-mine-g-a-simple-method-to-improve-nerve-regeneration-in-rats
#4
Salvatore D'Arpa, Giovanni Zabbia, Carla Cannizzaro, Grazia Salimbeni, Fulvio Plescia, Alessio Vincenzo Mariolo, Giovanni Cassata, Luca Cicero, Roberto Puleio, Anna Martorana, Francesco Moschella, Adriana Cordova
BACKGROUND: The aim of this study was to assess the effect of seeding the distal nerve suture with nerve fragments in rats. METHODS: On 20 rats, a 15 mm sciatic nerve defect was reconstructed with a nerve autograft. In the Study Group (10 rats), a minced 1 mm nerve segment was seeded around the nerve suture. In the Control Group (10 rats), a nerve graft alone was used. At 4 and 12 weeks, a walking track analysis with open field test (WTA), hystomorphometry (number of myelinated fibers (n), fiber density (FD) and fiber area (FA) and soleus and gastrocnemius muscle weight ratios (MWR) were evaluated...
July 25, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/28737583/callosal-injury-induced-working-memory-impairment-a-computational-network-modeling-study
#5
Jianxia Cui, Laurel J Ng, Vladislav Volman
Mild traumatic brain injury (mTBI) often results in working memory (WM) impairment, but the mechanistic relationship between the two remains elusive. We used a computational model of two cortical neuronal networks linked by myelinated callosal axons with distance-dependent conduction delays to simulate callosal dysfunction in mTBI and quantify its impact on WM. WM maintenance and termination in the model network depended on short-term synaptic plasticity. In injured networks, WM duration depended on the extent of callosal injury, consistent with clinical data...
July 21, 2017: Neuroreport
https://www.readbyqxmd.com/read/28736661/brain-tumor-delineation-enhanced-by-moxifloxacin-based-two-photon-cars-combined-microscopy
#6
Viet-Hoan Le, Su Woong Yoo, Yeoreum Yoon, Taejun Wang, Bumju Kim, Seunghun Lee, Kyung-Hwa Lee, Ki Hean Kim, Euiheon Chung
Delineating brain tumor margin is critical for maximizing tumor removal while sparing adjacent normal tissue for better clinical outcome. We describe the use of moxifloxacin-based two-photon (TP)/coherent anti-Stokes Raman scattering (CARS) combined microscopy for differentiating normal mouse brain tissue from metastatic brain tumor tissue based on histoarchitectural and biochemical differences. Moxifloxacin, an FDA-approved compound, was used to label cells in the brain, and moxifloxacin-based two-photon microscopy (TPM) revealed tumor lesions with significantly high cellular density and invading edges in a metastatic brain tumor model...
April 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28736276/b-cells-as-therapeutic-targets-in-neuro-inflammatory-diseases
#7
Reinhard Hohlfeld
B cells are an emerging therapeutic target in neuroinflammatory diseases. The anti-CD20 monoclonal antibody ocrelizumab was recently approved in the US as the first B-cell targeting immunomodulatory treatment for relapsing-remitting MS and primary progressive MS. In autoantibody-associated demyelinating syndromes such as neuromyelitis optica (NMO) and in myelin-oligodendrocyte-glycoprotein-(MOG)-autoantibody-associated encephalomyelitis, B-cells are a logical target based on the pathogenesis of these antibody-mediated disorders...
July 20, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28736215/human-ipsc-glial-mouse-chimeras-reveal-glial-contributions-to-schizophrenia
#8
Martha S Windrem, Mikhail Osipovitch, Zhengshan Liu, Janna Bates, Devin Chandler-Militello, Lisa Zou, Jared Munir, Steven Schanz, Katherine McCoy, Robert H Miller, Su Wang, Maiken Nedergaard, Robert L Findling, Paul J Tesar, Steven A Goldman
In this study, we investigated whether intrinsic glial dysfunction contributes to the pathogenesis of schizophrenia (SCZ). Our approach was to establish humanized glial chimeric mice using glial progenitor cells (GPCs) produced from induced pluripotent stem cells derived from patients with childhood-onset SCZ. After neonatal implantation into myelin-deficient shiverer mice, SCZ GPCs showed premature migration into the cortex, leading to reduced white matter expansion and hypomyelination relative to controls...
July 18, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28736194/the-epigenetic-drug-trichostatin-a-ameliorates-experimental-autoimmune-encephalomyelitis-via-t-cell-tolerance-induction-and-impaired-influx-of-t-cells-into-the-spinal-cord
#9
Arathi Jayaraman, Advait Soni, Bellur Prabhakar, Mark Holterman, Sundararajan Jayaraman
Multiple sclerosis is a T cell mediated chronic demyelinating disease of the central nervous system. Although currently available therapies reduce relapses, they do not facilitate tolerization of myelin antigen-specific T lymphocytes to ensure prolonged protection against multiple sclerosis. Here, we show that treatment of NOD mice with the histone deacetylase inhibitor, Trichostatin A affords robust protection against myelin peptide induced experimental autoimmune encephalomyelitis, a mouse model of multiple sclerosis...
July 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28736137/nogo-presence-is-inversely-associated-with-shifts-in-cortical-microglial-morphology-following-experimental-diffuse-brain-injury
#10
Jenna M Ziebell, Helen Ray-Jones, Jonathan Lifshitz
Diffuse traumatic brain injury (TBI) initiates secondary pathology, including inflammation and reduced myelination. Considering these injury-related pathologies, the many states of activated microglia as demonstrated by differing morphologies would form, migrate, and function in and through fields of growth-inhibitory myelin byproduct, specifically Nogo. Here we evaluate the relationship between inflammation and reduced myelin antigenicity in the wake of diffuse TBI and present the hypothesis that the Nogo-66 receptor antagonist peptide NEP(1-40) would reverse the injury-induced shift in distribution of microglia morphologies by limiting myelin-based inhibition...
July 20, 2017: Neuroscience
https://www.readbyqxmd.com/read/28735559/effects-of-intron-1-sequences-on-human-plp1-expression-implications-for-plp1-related-disorders
#11
Patricia A Wight
Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2. PLP1 expression must be tightly regulated since null mutations, as well as elevated PLP1 copy number, both lead to disease. Previous studies with Plp1-lacZ transgenic mice have demonstrated that mouse Plp1 ( mPlp1) intron 1 DNA (which accounts for slightly more than half of the gene) is required for the mPlp1 promoter to drive significant levels of reporter gene expression in brain...
July 2017: ASN Neuro
https://www.readbyqxmd.com/read/28734788/neuropathic-pain-in-experimental-autoimmune-neuritis-is-associated-with-altered-electrophysiological-properties-of-nociceptive-drg-neurons
#12
Omneya Taha, Thoralf Opitz, Marcus Mueller, Julika Pitsch, Albert Becker, Bernd Oliver Evert, Heinz Beck, Monika Jeub
Guillain-Barré syndrome (GBS) is an acute, immune-mediated polyradiculoneuropathy characterized by rapidly progressive paresis and sensory disturbances. Moderate to severe and often intractable neuropathic pain is a common symptom of GBS, but its underlying mechanisms are unknown. Pathology of GBS is classically attributed to demyelination of large, myelinated peripheral fibers. However, there is increasing evidence that neuropathic pain in GBS is associated with impaired function of small, unmyelinated, nociceptive fibers...
July 19, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28733756/glial-and-neuronal-antibodies-in-patients-with-idiopathic-intracranial-hypertension
#13
Güneş Altıokka-Uzun, Ece Erdağ, Betül Baykan, John Tzartos, Duygu Gezen-Ak, Bedia Samancı, Erdinç Dursun, Paraskevi Zisimopoulou, Katerina Karagiorgou, Christos Stergiou, Erdi Şahin, Esme Ekizoğlu, Murat Kürtüncü, Erdem Tüzün
Headache and visual disturbances are the main presenting symptoms of idiopathic intracranial hypertension (IIH) characterized by increased intracranial pressure (ICP) with an unknown cause. We aimed to investigate the antibodies against optic neuritis-associated glial antigens, aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) and uncharacterized neuronal membrane antigens in IIH patients. Consecutive patients diagnosed according to Friedman revised diagnostic criteria and control subjects were included after their consent...
July 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28732440/intravenous-injection-of-myelin-oligodendrocyte-glycoprotein-coated-plga-microparticles-have-tolerogenic-effects-in-experimental-autoimmune-encephalomyelitis
#14
Mehrdad Gholamzad, Masoumeh Ebtekar, Mehdi Shafiee Ardestani
The abnormal function of the T lymphocytes causes a range of autoimmune diseases, particularly multiple sclerosis; hence, several methods have been used to treat these disorders through the induction of antigen-specific tolerance in T cells. The present study aims to use a simple and low-cost method to produce poly (lactic-co-glycolic acid) (PLGA) nanoparticles for carrying antigens and inducing antigen-specific tolerance. In this study, PLGA nanoparticles were produced using the water/oil/water (W/O/W) method...
June 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28731616/inversion-recovery-ultrashort-echo-time-imaging-of-ultrashort-t2-tissue-components-in-ovine-brain-at-3%C3%A2-t-a-sequential-d2-o-exchange-study
#15
Shu-Juan Fan, Yajun Ma, Eric Y Chang, Graeme M Bydder, Jiang Du
Inversion recovery ultrashort echo time (IR-UTE) imaging holds the potential to directly characterize MR signals from ultrashort T2 tissue components (STCs), such as collagen in cartilage and myelin in brain. The application of IR-UTE for myelin imaging has been challenging because of the high water content in brain and the possibility that the ultrashort T2 * signals are contaminated by water protons, including those associated with myelin sheaths. This study investigated such a possibility in an ovine brain D2 O exchange model and explored the potential of IR-UTE imaging for the quantification of ultrashort T2 * signals in both white and gray matter at 3 T...
July 21, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28730968/modulation-of-the-immune-system-for-the-treatment-of-glaucoma
#16
Katharina Bell, Nadine von Thun Und Hohenstein-Blaul, Julia Teister, Franz H Grus
At present intraocular pressure (IOP) lowering therapies are the only approach to treat glaucoma. Neuroprotective strategies to protect the retinal ganglion cells (RGC) from apoptosis are lacking to date. Results from clinical studies revealed altered immunoreactivities against retinal and optic nerve antigens in sera and aqueous humor of glaucoma patients and point toward an autoimmune involvement in glaucomatous neurodegeneration and RGC death. IgG accumulations along with plasma cells were found localised in human glaucomatous retinae in a pro-inflammatory environment possibly maintained by microglia...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28730955/itraq-based-proteomic-analysis-of-appsw-ind-mice-provides-insights-into-the-early-changes-in-alzheimer-s-disease
#17
Nan Li, Pinghong Hu, Tiantian Xu, Huan Chen, Xiaoying Chen, Jianwen Hu, Xifei Yang, Lei Shi, Jian-Hong Luo, Junyu Xu
BACKGROUND: Several proteins have been identified as potential diagnostic biomarkers in imaging, genetic, or proteomic studies in Alzheimer disease (AD) patients and mouse models. However, biomarkers for presymptom diagnosis of AD are still under investigation, as are the presymptom molecular changes in AD pathogenesis. OBJECTIVE: In this study, we aim to analyzed the early proteomic changes in APPSw,Ind mice and to conduct further functional studies on interesting proteins...
July 19, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28730237/therapeutic-potential-of-certain-drug-combinations-on-paclitaxel-induced-peripheral-neuropathy-in-rats
#18
Cristina Elena Zbârcea, IonuŢ Cosmin Ciotu, Veronica Bild, Cornel ChiriŢă, Alexandra Mihaela Tănase, Oana Cristina Şeremet, Emil Ştefănescu, Andreea LetiŢia Arsene, Alexandra Eugenia Bastian, Floriana Elvira Ionică, Simona Negreş
BACKGROUND AND AIMS: Experimental research and clinical data support the potential combination therapy for the treatment of neuropathic pain. We aimed to investigate the analgesic effect of the following associations: gabapentin + etifoxine; tramadol + etifoxine; gabapentin + tramadol, in an experimental model of peripheral neuropathy induced by paclitaxel. MATERIALS AND METHODS: Neuropathy was induced in male Wistar rats by the daily administration of 2 mg÷kg body weight (bw) paclitaxel intraperitoneally, four days in a row...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729867/exposure-to-the-epstein-barr-viral-antigen-latent-membrane-protein-1-induces-myelin-reactive-antibodies-in-vivo
#19
Yakov Lomakin, Georgii Pavlovich Arapidi, Alexander Chernov, Rustam Ziganshin, Evgenii Tcyganov, Irina Lyadova, Ivan Olegovich Butenko, Maria Osetrova, Natalia Ponomarenko, Georgy Telegin, Vadim Markovich Govorun, Alexander Gabibov, Alexey Belogurov
Multiple sclerosis (MS) is an autoimmune chronic inflammatory disease of the central nervous system (CNS). Cross-reactivity of neuronal proteins with exogenous antigens is considered one of the possible mechanisms of MS triggering. Previously, we showed that monoclonal myelin basic protein (MBP)-specific antibodies from MS patients cross-react with Epstein-Barr virus (EBV) latent membrane protein 1 (LMP1). In this study, we report that exposure of mice to LMP1 results in induction of myelin-reactive autoantibodies in vivo...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28729690/functional-variation-of-shp-2-promoter-is-associated-with-preterm-birth-and-delayed-myelination-and-motor-development-in-preterm-infants
#20
So-Yeon Shim, Hye Jin Jeong, Hyo Jin Park, Eun Young Kwon, Bo Min Kim, Yang Ji Choi, Youn-Hee Choi, Su Jin Cho, Ji Ha Choi, Eun Ae Park
Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP-2) is a cytoplasmic tyrosine phosphatase that is highly expressed in hematopoietic cells and in the CNS and exerts opposite effects on signal transduction by exerting a neuroprotective or proapoptotic effect. Several mutations of SHP-2 have been found in children with myeloproliferative disorders or malignant leukemia, and some of these can affect brain development. In the present study, we aimed to identify and functionally characterize genetic variations in SHP-2 in 72 preterm and 58 full-term infants and to evaluate the effect of the variations on neurodevelopment in preterm infants...
July 20, 2017: Scientific Reports
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