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https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#1
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28544286/early-regional-cuprizone-induced-demyelination-in-a-rat-model-revealed-with-mri
#2
Wendy Oakden, Nicholas A Bock, Alia Al-Ebraheem, Michael J Farquharson, Greg J Stanisz
The cuprizone model of demyelination is well established in the mouse as a tool for the study of the mechanisms of both demyelination and remyelination. It is often desirable, however, to have a larger model, such as the rat, especially for imaging-based studies, yet initial work has failed to show demyelination in cuprizone-fed rats. Several recent studies have demonstrated demyelination in the rat, but only in the corpus callosum. In this study, we acquired high-resolution, three-dimensional images of the whole brain every 2 weeks, using a T1 -weighted magnetization-prepared rapid acquisition gradient echo imaging sequence, optimized for myelin contrast, in order to assess myelination across the entire rat brain over a period of 8 weeks on a 1% cuprizone diet...
May 22, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#3
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544025/phase-imaging-of-axonal-integrity-of-cranial-corticospinal-tract-in-experimental-spinal-cord-injury-at-9-4t
#4
Genxia He, Junchao Qian
It was known that Spinal cord injury (SCI) leads to neuronal cell death, axonal damage and demyelination, and often results in severe functional loss. Noninvasive imaging of axonal integrity may hold great importance in clinic. This study evaluated the role of phase imaging in detection of axonal integrity of cranial corticospinal tract after spinal cord injury. Quantitative MR phase imaging and diffusion tensor imaging were performed on a group of rats prior to and after spinal cord injury at 9.4 T in this study...
May 23, 2017: Microscopy Research and Technique
https://www.readbyqxmd.com/read/28543957/a-novel-mutation-in-the-fgd4-gene-causing-charcot-marie-tooth-disease
#5
Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543071/differentiating-enhancing-multiple-sclerosis-lesions-glioblastoma-and-lymphoma-with-dynamic-texture-parameters-analysis-dtpa-a-feasibility-study
#6
Rajeev K Verma, Roland Wiest, C Locher, Mirjam R Heldner, Phillip Schucht, Andreas Raabe, Jan Gralla, Christian Philipp Kamm, Johannes Slotboom, Frauke Kellner-Weldon
PURPOSE: MR-imaging hallmarks of glioblastoma (GB), cerebral lymphoma (CL), and demyelinating lesions are gadolinium (Gd) uptake due to blood brain barrier disruption. Thus, initial diagnosis may be difficult based on conventional Gd enhanced MRI alone. Here, the added value of a dynamic texture parameter analysis (DTPA) in the differentiation between these three entities is examined. DTPA is an in-house software tool that incorporates the analysis of quantitative texture parameters extracted from dynamic susceptibility contrast enhanced (DSCE) images...
May 19, 2017: Medical Physics
https://www.readbyqxmd.com/read/28542724/viruses-and-endogenous-retroviruses-in-multiple-sclerosis-from-correlation-to-causation
#7
REVIEW
A-F A Mentis, E Dardiotis, N Grigoriadis, E Petinaki, G M Hadjigeorgiou
Multiple sclerosis is an immune-mediated disease with an environmental component. According to a long-standing but unproven hypothesis dating to initial descriptions of multiple sclerosis (MS) at the end of the 19th century, viruses are either directly or indirectly implicated in MS pathogenesis. Whether viruses in MS are principally causal or simply contributory remains to be proven, but many viruses or viral elements-predominantly Epstein-Barr virus, human endogenous retroviruses (HERVs) and human herpesvirus 6 (HHV-6) but also less common viruses such as Saffold and measles viruses-are associated with MS...
May 23, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28542613/suppression-of-il-12p70-formation-by-il-2-or-following-macrophage-depletion-causes-t-cell-autoreactivity-leading-to-cns-demyelination-in-hsv-1-infected-mice
#8
Dhong Hyun Lee, Mandana Zandian, Jane Kuo, Kevin R Mott, Shuang Chen, Moshe Arditi, Homayon Ghiasi
We have established two mouse models of central nervous system (CNS) demyelination that differ from most other available models of multiple sclerosis (MS) in that they represent a mixture of viral and immune triggers. In the first model, ocular infection of different strains of mice with a recombinant HSV-1 that expresses murine IL-2 constitutively (HSV-IL-2) causes CNS demyelination. In the second model, depletion of macrophages causes CNS demyelination in mice that are ocularly infected with wild-type (WT) HSV-1...
May 22, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28542521/regeneration-of-myelin-sheaths-of-normal-length-and-thickness-in-the-zebrafish-cns-correlates-with-growth-of-axons-in-caliber
#9
Marja J Karttunen, Tim Czopka, Marieke Goedhart, Jason J Early, David A Lyons
Demyelination is observed in numerous diseases of the central nervous system, including multiple sclerosis (MS). However, the endogenous regenerative process of remyelination can replace myelin lost in disease, and in various animal models. Unfortunately, the process of remyelination often fails, particularly with ageing. Even when remyelination occurs, it is characterised by the regeneration of myelin sheaths that are abnormally thin and short. This imperfect remyelination is likely to have implications for the restoration of normal circuit function and possibly the optimal metabolic support of axons...
2017: PloS One
https://www.readbyqxmd.com/read/28541408/loss-of-homeostatic-microglia-and-patterns-of-their-activation-in-active-multiple-sclerosis
#10
Tobias Zrzavy, Simon Hametner, Isabella Wimmer, Oleg Butovsky, Howard L Weiner, Hans Lassmann
Microglia and macrophages accumulate at the sites of active demyelination and neurodegeneration in the multiple sclerosis brain and are thought to play a central role in the disease process. We used recently described markers to characterize the origin and functional states of microglia/macrophages in acute, relapsing and progressive multiple sclerosis. We found microglia activation in normal white matter of controls and that the degree of activation increased with age. This microglia activation was more pronounced in the normal-appearing white matter of patients in comparison to controls and increased with disease duration...
May 24, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28538254/acute-demyelinating-polyneuropathy-as-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-who-exercised-regularly-in-the-army
#11
Malathi Perugula, Gulshan Uppal, Miguel Chuquilin
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain-Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28536996/models-for-studying-myelination-demyelination-and-remyelination
#12
REVIEW
I Osorio-Querejeta, M Sáenz-Cuesta, M Muñoz-Culla, D Otaegui
One of the most widely studied demyelinating diseases is multiple sclerosis, which is characterised by the appearance of demyelinating plaques, followed by myelin regeneration. Nevertheless, with disease progression, remyelination tends to fail, increasing the characteristic neurodegeneration of the disease. It is essential to understand the mechanisms that operate in the processes of myelination, demyelination and remyelination to develop treatments that promote the production of new myelin, thereby protecting the central nervous system...
May 23, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28535894/association-between-demyelinating-disease-and-autoimmune-rheumatic-disease-in-a-pediatric-population
#13
Ana Luiza M Amorim, Nadia C Cabral, Fabiane M Osaku, Claudio A Len, Enedina M L Oliveira, Maria Teresa Terreri
INTRODUCTION: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. OBJECTIVE: To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients...
May 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/28533781/myelin-oligodendrocyte-glycoprotein-deciphering-a-target-in-inflammatory-demyelinating-diseases
#14
REVIEW
Patrick Peschl, Monika Bradl, Romana Höftberger, Thomas Berger, Markus Reindl
Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. This makes MOG a potential target of cellular and humoral immune responses in inflammatory demyelinating diseases. Due to its late postnatal developmental expression, MOG is an important marker for oligodendrocyte maturation. Discovered about 30 years ago, it is one of the best-studied autoantigens for experimental autoimmune models for multiple sclerosis (MS)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28533776/reactivity-to-novel-autoantigens-in-patients-with-coexisting-central-nervous-system-demyelinating-disease-and-autoimmune-thyroid-disease
#15
Judith M Greer, Simon Broadley, Michael P Pender
Several lines of evidence suggest a definite and unique link between CNS demyelinating diseases and autoimmune thyroid disease (AITD). The aim of the current study was to systematically compare the clinical and laboratory features of patients with coexistent AITD and CNS demyelinating disease with those of patients with just CNS demyelinating disease. Forty-four patients with coexisting CNS demyelinating disease and AITD were identified and their clinical and radiological features were recorded. Blood and DNA were collected and tested for HLA type and for the response of T cells and antibodies to a variety of antigens...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28532696/gastroduodenal-burkitt-lymphoma-presenting-as-demyelinating-polyneuropathy
#16
Peter D Snell, Kanak Das
No abstract text is available yet for this article.
May 19, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28531809/multifocal-visual-evoked-potentials-in-optic-neuritis-and-multiple-sclerosis-a-review
#17
REVIEW
Gorm Pihl-Jensen, Mathias Falck Schmidt, Jette Lautrup Frederiksen
Multifocal visual evoked potential (mf-VEP) represents a new approach to the classical full field (ff-)VEP with separate responses from up to 60 sectors of the visual field. A thorough literature survey of the use of mf-VEP in optic neuritis (ON) and multiple sclerosis (MS) is presented (38 published studies were retrieved). Mf-VEP provides direct topographical information of specific lesions and facilitates investigations on structural-functional correlations thus providing new methods for exploring the interplay between demyelination, atrophy and remyelination in MS...
April 11, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28531236/psychosine-enhances-the-shedding-of-membrane-microvesicles-implications-in-demyelination-in-krabbe-s-disease
#18
Ludovic D'Auria, Cory Reiter, Emma Ward, Ana Lis Moyano, Michael S Marshall, Duc Nguyen, Giuseppe Scesa, Zane Hauck, Richard van Breemen, Maria I Givogri, Ernesto R Bongarzone
In prior studies, our laboratory showed that psychosine accumulates and disrupts lipid rafts in brain membranes of Krabbe's disease. A model of lipid raft disruption helped explaining psychosine's effects on several signaling pathways important for oligodendrocyte survival and differentiation but provided more limited insight in how this sphingolipid caused demyelination. Here, we have studied how this cationic inverted coned lipid affects the fluidity, stability and structure of myelin and plasma membranes...
2017: PloS One
https://www.readbyqxmd.com/read/28529513/ionizing-radiation-induced-immune-and-inflammatory-reactions-in-the-brain
#19
REVIEW
Katalin Lumniczky, Tünde Szatmári, Géza Sáfrány
Radiation-induced late brain injury consisting of vascular abnormalities, demyelination, white matter necrosis, and cognitive impairment has been described in patients subjected to cranial radiotherapy for brain tumors. Accumulating evidence suggests that various degrees of cognitive deficit can develop after much lower doses of ionizing radiation, as well. The pathophysiological mechanisms underlying these alterations are not elucidated so far. A permanent deficit in neurogenesis, chronic microvascular alterations, and blood-brain barrier dysfunctionality are considered among the main causative factors...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28527161/prognostic-indicators-of-response-to-plasmapheresis-in-patients-of-guillain-barre-syndrome
#20
H B Prasad, R T Borse, A N Avate, Assistant Professor In Medicine Palasdeokar
INTRODUCTION: Plasmapheresis is an important modality for the treatment of GBS. Moreover the response to this treatment modality is not same in all cases. We therefore studied the various prognostic indicators of response to plasmapheresis in patients of Guillain Barre Syndrome. MATERIAL AND METHODS: 40 patients were included in the study. Thorough clinical examination was done. Nerve conduction was done to find out the type of neuropathy. All were then given plasmapheresis...
April 2017: Journal of the Association of Physicians of India
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