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https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#1
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#2
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28447514/neuroprotective-effects-of-ellagic-acid-on-cuprizone-induced-acute-demyelination-through-limitation-of-microgliosis-adjustment-of-cxcl12-il-17-il-11-axis-and-restriction-of-mature-oligodendrocytes-apoptosis
#3
Nima Sanadgol, Fereshteh Golab, Zakiyeh Tashakkor, Nooshin Taki, Samira Moradi Kouchi, Ali Mostafaie, Mehdi Mehdizadeh, Mohammad Abdollahi, Ghorban Taghizadeh, Mohammad Sharifzadeh
CONTEXT: Ellagic acid (EA) is a natural phenol antioxidant with various therapeutic activities. However, the efficacy of EA has not been examined in neuropathologic conditions. OBJECTIVE: In vivo neuroprotective effects of EA on cuprizone (cup)-induced demyelination were evaluated. MATERIAL AND METHODS: C57BL/6 J mice were fed with chow containing 0.2% cup for 4 weeks to induce oligodendrocytes (OLGs) depletion predominantly in the corpus callosum (CC)...
December 2017: Pharmaceutical Biology
https://www.readbyqxmd.com/read/28446142/differences-in-peripheral-myelin-antigen-specific-t-cell-responses-and-t-memory-subsets-in-atypical-versus-typical-cidp
#4
M Staudt, J M Diederich, C Meisel, A Meisel, J Klehmet
BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is presented by a large heterogeneity of clinical phenotypes. Around 50% of patients suffer from typical CIDP and show better therapy response than atypical variants. The goal of our study was to search for cellular immunological differences in typical versus atypical CIDP in comparison to controls. METHODS: We evaluated 26 (9 typical, 17 atypical) patients with mainly active-unstable CIDP using clinical and immunological examinations (enzyme-linked immunospot assay ELISPOT, fluorescence-activated cell sorting FACS) in comparison to 28 healthy, age-matched controls (HC)...
April 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28445497/prostaglandin-e2-produced-following-infection-with-theiler-s-virus-promotes-the-pathogenesis-of-demyelinating-disease
#5
Seung Jae Kim, Young-Hee Jin, Byung S Kim
Infection of various cells with Theiler's murine encephalomyelitis virus (TMEV) activates the TLR- and melanoma differentiation-associated gene 5 (MDA5)-dependent pathways, resulting in the production of IL-1β via the activation of caspase-1 upon assembly of the node-like receptor protein 3 (NLRP3) inflammasome. The role of IL-1β in the pathogenesis of TMEV-induced demyelinating disease was previously investigated. However, the signaling effects of prostaglandin E2 (PGE2) downstream of the NLRP3 inflammasome on the immune responses to viral determinants and the pathogenesis of demyelinating disease are unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28442746/ultrastructural-characterization-of-the-lower-motor-system-in-a-mouse-model-of-krabbe-disease
#6
Valentina Cappello, Laura Marchetti, Paola Parlanti, Silvia Landi, Ilaria Tonazzini, Marco Cecchini, Vincenzo Piazza, Mauro Gemmi
Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells. Despite the wide use of Twitcher mice as experimental model for KD, the ultrastructure of this model is partial and mainly addressing peripheral nerves. More details are requested to elucidate the basis of the motor defects, which are the first to appear during KD onset. Here we use transmission electron microscopy (TEM) to focus on the alterations produced by KD in the lower motor system at postnatal day 15 (P15), a nearly asymptomatic stage, and in the juvenile P30 mouse...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28439420/an-unusual-cause-of-fatal-rapid-onset-ataxia-plus-syndrome
#7
Ivan Kmezic, Jan Weinberg, Dan Hauzenberger, Farouk Hashim, Evangelia Kollia, Monika Klimkowska, Inger Nennesmo, Martin Paucar
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppression. Acquired immune deficiency syndrome (AIDS) and hematological malignancies are well-known predisposing factors for PML. However, in the past ten years, various pharmacological agents have been associated with increased risk of PML. Based on the phenomenology PML can be divided into the cerebral form and the rare cerebellar form...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28437822/osmotic-demyelination-syndrome-due-to-severe-hyponatremia-mimicking-hypoxic-encephalopathy
#8
Felix Wicke, Sasha Moreitz, Stefan Weidauer
Hyponatremia and its rapid correction is a well-known cause of osmotic demyelination most commonly affecting the pons. We report on a case of severe hyponatremia likely due to psychogenic polydipsia resulting in hypotonic hyperhydration with resulting cortical laminar necrosis on initial imaging, mimicking hypoxic brain damage. Pontine myelinolysis became apparent on follow-up imaging, illustrating the diagnostic challenges of extrapontine manifestations of severe hyponatremia.
April 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28436460/histological-validation-of-fast-macromolecular-proton-fraction-mapping-as-a-quantitative-myelin-imaging-method-in-the-cuprizone-demyelination-model
#9
Marina Yu Khodanovich, Irina V Sorokina, Valentina Yu Glazacheva, Andrey E Akulov, Nikolay M Nemirovich-Danchenko, Alexander V Romashchenko, Tatyana G Tolstikova, Lilia R Mustafina, Vasily L Yarnykh
Cuprizone-induced demyelination in mice is a frequently used model in preclinical multiple sclerosis research. A recent quantitative clinically-targeted MRI method, fast macromolecular proton fraction (MPF) mapping demonstrated a promise as a myelin biomarker in human and animal studies with a particular advantage of sensitivity to both white matter (WM) and gray matter (GM) demyelination. This study aimed to histologically validate the capability of MPF mapping to quantify myelin loss in brain tissues using the cuprizone demyelination model...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28434855/health-care-use-before-a-first-demyelinating-event-suggestive-of-a-multiple-sclerosis-prodrome-a-matched-cohort-study
#10
José M A Wijnands, Elaine Kingwell, Feng Zhu, Yinshan Zhao, Tanja Högg, Karen Stadnyk, Okechukwu Ekuma, Xinya Lu, Charity Evans, John D Fisk, Ruth Ann Marrie, Helen Tremlett
BACKGROUND: Degenerative processes in neurodegenerative diseases can start years before clinical manifestation. We aimed to establish whether a multiple sclerosis prodromal period exists by examining patterns of health-care use before a first demyelinating event. METHODS: In this matched cohort study, we used data from linked health administrative and clinical databases from four Canadian provinces (British Columbia, Saskatchewan, Manitoba, and Nova Scotia) to compare hospital, physician, and prescription use data from people with multiple sclerosis and matched general population controls in the 5 years before the first demyelinating disease claim (health administrative index date) or clinically reported symptom onset (clinical index date)...
April 20, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28434507/motor-neuropathies-and-lower-motor-neuron-syndromes
#11
REVIEW
A Verschueren
Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available...
April 20, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28430292/failure-of-the-vascular-hypothesis-of-multiple-sclerosis-in-a-rat-model-of-chronic-cerebrospinal-venous-insufficiency
#12
Maha M A Zakaria, Shahira Y Mikhael, Azza K Abu Hussein, Rania A Salah El-Din, Hany W Abd El-Malak, Iman H Hewedi, Hany S Nadim
<i>Chronic cerebrospinal venous insufficiency (CCSVI) is a series of stenotic malformations in the cerebrospinal venous outflow routes, which is postulated to cause multiple sclerosis (MS). The hypotheses assumed that CCSVI leads to iron deposition which triggers inflammation and demyelination in MS. Invasive endovascular treatment of CCSVI was initiated based on the previous theory. The present study was designed to validate this hypothesis using a rat model of CCSVI. Bilateral jugular vein ligation (JVL) was performed on female albino rats (n = 15), and sham-operated rats (n = 15) were used as a control group...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28427937/reactivity-of-anti-hnk-1-antibodies-to-branched-o-mannose-glycans-associated-with-demyelination
#13
Kanoko Sakuda, Yasuhiko Kizuka, Yoshiki Yamaguchi, Katsunori Tanaka, Ken Ogiwara, Tatsuya Segawa, Yoshiaki Hagiwara, Ichiro Matsuo, Haruko Ogawa, Naoyuki Taniguchi, Shinobu Kitazume
Human natural killer-1 (HNK-1) epitope, a highly-expressed glycan in the nervous system, is critical for normal synaptic plasticity and spatial learning. HNK-1 epitope modifies N-glycans on several neural glycoproteins, and also modifies O-mannosyl glycans. A branching enzyme for O-mannosyl glycans (GnT-IX, Core M2 synthase) exhibits brain-specific expression, and the product core M2 glycans are also limited to the brain. In a previous study, we showed that cuprizone-induced demyelination increased HNK-1-capped core M2 glycan expression, while GnT-IX deficiency ameliorated demyelination, suggesting that these glycans could be useful diagnostic markers for demyelination status and act as therapeutic targets...
April 18, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28427710/clinical-outcomes-and-predictive-factors-related-to-good-outcomes-in-plasma-exchange-in-severe-attack-of-nmosd-and-long-extensive-transverse-myelitis-case-series-and-review-of-the-literature
#14
Saharat Aungsumart, Metha Apiwattanakul
OBJECTIVE: To investigate the predictive factors associated with good outcomes of plasma exchange in severe attacks through neuromyelitis optica spectrum disorder (NMOSD) and long extensive transverse myelitis (LETM). In addition, to review the literature of predictive factors associated with the good outcomes of plasma exchange in central nervous system inflammatory demyelinating diseases (CNS IDDs). METHODS: Retrospective study in 27 episodes of severe acute attacks myelitis and optic neuritis in 24 patients, including 20 patients with NMOSD seropositive, 1 patient with NMOSD seronegative and 3 patients with LETM...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427706/neuromyelitis-optica-spectrum-disorder-related-tonic-spasms-responsive-to-lacosamide
#15
A Baheerathan, W J Brownlee, F Rugg-Gunn, D T Chard, S A Trip
Paroxysmal tonic spasms [PTS] are common in patients with neuromyelitis optica spectrum disorder (NMOSD).1 2 In patients with demyelinating disease, PTS can significantly reduce the quality of life, limit activities of daily living and the rehabilitative process following an acute relapse 3. As in patients with multiple sclerosis (MS), paroxysmal tonic spasms in NMOSD usually respond well to treatment with carbamazepine.2 However, the optimal treatment in patients where carbamazepine is contraindicated or poorly tolerated is unclear...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427705/presence-of-central-veins-and-susceptibility-weighted-imaging-for-evaluating-lesions-in-multiple-sclerosis-and-leukoaraiosis
#16
Urška Lamot, Jernej Avsenik, Saša Šega, Katarina Šurlan Popovič
PURPOSE: The process of demyelination in multiple sclerosis (MS) is reflected in lesions of the central nervous system (CNS), which are found in an abundance of different diseases and are frequently radiographically indistinguishable. Our aim was to determine whether the perivenous distribution of MS lesions identified on susceptibility weighted images (SWI) could be used as a specific radiographic sign for MS, and also to determine whether the visibility of the central vein (CV) is affected by the activity of MS lesions...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427703/multiple-sclerosis-among-afghan-immigrants-in-isfahan-iran
#17
Masoud Etemadifar, Niyousha Sadeghpour, Kimia Nekouie, Mohammadmostafa Jahansouz, Mehri Salari, Mahboobeh Fereidan-Esfahani
BACKGROUND: Multiple sclerosis is a central nervous system demyelinating disease with unknown etiology. However, it is believed to be a multifactorial disease resulting from an interaction of genetic and environmental factors. Immigrant studies have been performed to provide a better view of the pattern of this interaction. We aimed to report the prevalence of MS Afghan immigrants of Isfahan, a population who share the same environment as Isfahan residents but with different genetic backgrounds...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427702/long-term-clinical-and-radiologic-follow-up-of-schilder-s-disease
#18
Hülya Maraş Genç, Bülent Kara, Emek Uyur Yalçın, Ayfer Sakarya Güneş, Adnan Deniz, Yonca Anık
BACKGROUND: Schilder's disease is a rare, subacute, or chronic demyelinating disorder that mainly affects children and generally shows a monophasic course. CASE: Here, we present three boys diagnosed with Schilder's disease, age at onset 10-14 years, and followed up for 4-8 years. All of them presented with headache, two with encephalopathy and vomiting, and one with diplopia and vertigo. Cranial magnetic resonance imaging (MRI) showed two large demyelinating lesions, asymmetric in two patients and symmetric in the other...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#19
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28425868/pomegranate-as-a-possible-treatment-in-reducing-risk-of-developing-wound-healing-obesity-neurodegenerative-disorders-and-diabetes-mellitus
#20
Manaf AlMatar, Md Rashedul Islam, Othman Albari, Işıl Var, Fatih Köksal
Four distinguished although overlying stages make up the methodical procedure of wound healing, which are hemostasis, inflammation, proliferation and remodelling. Multiple sclerosis (MS) comprises a persistent inflammatory infection of the central nervous system, and is related to demyelination, neurodegeneration, as well as susceptibility to oxidative pressure. Obesity signifies a swiftly developing danger to the wellbeing of populations in a rising number of nations. Usually called diabetes mellitus (DM) by medical practitioners, diabetes details a collection of metabolic diseases within which the individual has raised blood glucose, either due to an insufficiency of insulin generation, or the lack of suitable response by the body to insulin, or both...
April 19, 2017: Mini Reviews in Medicinal Chemistry
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