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demyelinating disorder

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https://www.readbyqxmd.com/read/28340352/human-epistatic-interaction-controls-il7r-splicing-and-increases-multiple-sclerosis-risk
#1
Gaddiel Galarza-Muñoz, Farren B S Briggs, Irina Evsyukova, Geraldine Schott-Lerner, Edward M Kennedy, Tinashe Nyanhete, Liuyang Wang, Laura Bergamaschi, Steven G Widen, Georgia D Tomaras, Dennis C Ko, Shelton S Bradrick, Lisa F Barcellos, Simon G Gregory, Mariano A Garcia-Blanco
Multiple sclerosis (MS) is an autoimmune disorder where T cells attack neurons in the central nervous system (CNS) leading to demyelination and neurological deficits. A driver of increased MS risk is the soluble form of the interleukin-7 receptor alpha chain gene (sIL7R) produced by alternative splicing of IL7R exon 6. Here, we identified the RNA helicase DDX39B as a potent activator of this exon and consequently a repressor of sIL7R, and we found strong genetic association of DDX39B with MS risk. Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28337644/cns-demyelination-with-tnf-%C3%AE-blockers
#2
REVIEW
Elissavet Kemanetzoglou, Elisabeth Andreadou
Tumor necrosis factor-α (TNF-α) blockers are a popular therapeutic choice in a number of inflammatory diseases. Thus far, five TNF- α blockers have been approved for clinical use (etanercept, infliximab, adalimumab, golimumab. and certolizumab). Despite being considered relatively safe, serious side effects associated with immune suppression have been reported, including central and peripheral nervous system (CNS) demyelinating disorders. It is still elusive whether these events are mere coincidence or a side effect of anti-TNF-α use...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28336681/accuracy-and-reliability-of-stroke-diagnosis-in-the-pediatric-emergency-department
#3
Mark T Mackay, Adriana Yock-Corrales, Leonid Churilov, Paul Monagle, Geoffrey A Donnan, Franz E Babl
BACKGROUND AND PURPOSE: Access to acute stroke interventions in the emergency department (ED) relies on correct clinical diagnosis. Our aims were to determine the accuracy and reliability of pediatric ED physician diagnosis of childhood stroke and other conditions presenting with brain attack symptoms. METHODS: Prospective study of consecutive children aged 1 month to 18 years presenting to the ED from June 2009 to December 2010 with focal neurological deficits...
March 23, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#4
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#5
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28321080/the-improvement-of-the-outcome-of-osmotic-demyelination-syndrome-by-plasma-exchange
#6
Saeko Kumon, Ryosuke Usui, Shinzo Kuzuhara, Kosaku Nitta, Minako Koike
A 71-year-old Japanese woman presented with progressive fatigue, lethargy, dysarthria and a gait disorder. Her laboratory data revealed hyponatremia (Na 101 mEq/L), and we started correcting her serum sodium level. Within a few days, she became comatose, bedridden, and was intubated. We diagnosed osmotic demyelination syndrome (ODS) and started performing plasma exchange (PE) on the 39th day of hospitalization. She fully recovered after starting PE, and was discharged on foot unassisted. PE can be a beneficial treatment in patients with chronic ODS...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28320194/acquired-pendular-nystagmus
#7
REVIEW
Sarah Kang, Aasef G Shaikh
Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#8
Anna Lena Görtz, Laura A N Peferoen, Wouter H Gerritsen, Johannes M van Noort, Marianna Bugiani, Sandra Amor
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation...
March 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28315956/axonal-transport-deficits-in-multiple-sclerosis-spiraling-into-the-abyss
#9
REVIEW
Robert van den Berg, Casper C Hoogenraad, Rogier Q Hintzen
The transport of mitochondria and other cellular components along the axonal microtubule cytoskeleton plays an essential role in neuronal survival. Defects in this system have been linked to a large number of neurological disorders. In multiple sclerosis (MS) and associated models such as experimental autoimmune encephalomyelitis (EAE), alterations in axonal transport have been shown to exist before neurodegeneration occurs. Genome-wide association (GWA) studies have linked several motor proteins to MS susceptibility, while neuropathological studies have shown accumulations of proteins and organelles suggestive for transport deficits...
March 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28315624/extrapontine-myelinolysis-manifested-selectively-by-acute-severe-parkinsonian-syndrome-case-report
#10
(no author information available yet)
OBJECTIVES: Osmotic demyelination syndrome (ODMS) is a rare and serious neurologic disorder with acute myelin disintegration, usually in the pontine area (central pontine myelinolysis) and to a lesser extent, even in other areas of the central nervous system (extrapontine myelinolysis). The main underlying mechanism is the change of serum osmolality with quick correction of low mineral levels, mainly hyponatraemia. Clinical manifestation is various and depends on the localization. DESIGN: We describe an acute isolated extrapontine myelinolysis causing acute onset of parkinsonism in a 61-year-old man who developed quickly progressing parkinsonian syndrome after the rapid correction of hyponatraemia...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28314885/adverse-effects-of-levamisole-in-cocaine-users-a-review-and-risk-assessment
#11
REVIEW
Tibor Markus Brunt, Jorrit van den Berg, Ed Pennings, Bastiaan Venhuis
The immunomodulatory adjuvant and antihelminth levamisole is increasingly used as an adulterant in cocaine worldwide. An accumulating body of clinical and toxicological literature has appeared since 2010 describing neutropenia, agranulocytosis, leukoencephalopathy and vasculitis in cases associated with levamisole-adulterated cocaine. Mostly, neutropenia and agranulocytosis were reported, characterized by a decimation of neutrophils. A large proportion of cases also involved vasculopathy, characterized by pronounced black and purple skin purpura with cutaneous necrosis...
March 17, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28302609/enhancing-brain-lesions-during-acute-optic-neuritis-and-or-longitudinally-extensive-transverse-myelitis-may-portend-a-higher-relapse-rate-in-neuromyelitis-optica-spectrum-disorders
#12
G Orman, K Y Wang, Y Pekcevik, C B Thompson, M Mealy, M Levy, I Izbudak
BACKGROUND AND PURPOSE: Neuromyelitis optica spectrum disorders are inflammatory demyelinating disorders with optic neuritis and/or longitudinally extensive transverse myelitis episodes. We now know that neuromyelitis optica spectrum disorders are associated with antibodies to aquaporin-4, which are highly concentrated on astrocytic end-feet at the blood-brain barrier. Immune-mediated disruption of the blood-brain barrier may manifest as contrast enhancement on brain MR imaging. We aimed to delineate the extent and frequency of contrast enhancement on brain MR imaging within 1 month of optic neuritis and/or longitudinally extensive transverse myelitis attacks and to correlate contrast enhancement with outcome measures...
March 16, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28298841/etiological-profile-of-noncompressive-myelopathies-in-a-tertiary-care-hospital-of-northeast-india
#13
Ashok Kumar Kayal, Munindra Goswami, Marami Das, Lakhshya Jyoti Basumatary, Suvorit Subhas Bhowmick, Baiakmenlang Synmon
BACKGROUND: The discovery of antibodies against aquaporin-4 and evolving concepts of noncompressive myelopathies in the 21(st) century have made a major impact on the etiological profile of these diseases, with few cases turning out to be idiopathic. OBJECTIVE: To find causes of noncompressive myelopathy in a tertiary care hospital of Northeast India. MATERIALS AND METHODS: An observational study was carried out in the Neurology Department of Gauhati Medical College, Guwahati, from September 2013 to February 2016...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28297687/-a-rare-case-of-cerebellar-hemangioblastoma-causing-taste-disorder
#14
Hiroko Nakashiro, Masatou Kawashima, Fumitaka Yoshioka, Yukiko Nakahara, Yukinori Takase, Atsushi Ogata, Shoko Shimokawa, Jun Masuoka, Tatsuya Abe, Toshio Matsushima
Taste(gustation)is one of the five senses, and comprises the types: sweet, bitter, salty, sour, and umami. Taste disorders, such as dysgeusia and parageusia, are classified into 2 types: those with peripheral origin and those with central origin. The peripheral origin-type taste disorder is caused by zinc deficiency, mouth dryness, a side effect of radiotherapy or complication of systemic diseases such as, diabetes, hepatopathy, and nephropathy. The central origin-type taste disorder is reported to be caused due to demyelinating disease, pontine hemorrhage, pontine infarction, and thalamic infarction; it is very rarely caused by a brain tumor...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28289647/central-pontine-myelinolysis-induced-by-alcohol-withdrawal-a-case-report
#15
Jae Ho Kim, Sae Hyun Kim, Ho Joong Jeong, Young Joo Sim, Dong Kyu Kim, Ghi Chan Kim
Central pontine myelinolysis (CPM) is a demyelinating disorder characterized by the loss of myelin in the center of the basis pons, and is mainly caused by the rapid correction of hyponatremia. We report the case of a young woman who presented with gait disturbance and alcohol withdrawal, and who was eventually diagnosed with CPM. Generally, the cause and pathogenesis of CPM in chronic alcoholics remain unclear. In this cases, the CPM may be unrelated to hyponatremia or its correction. However, it is possible that the osmotic pressure changes due to refeeding syndrome after alcohol withdrawal was the likely cause in this case...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28284465/neurological-disorders-in-liver-transplant-candidates-pathophysiology-and-clinical-assessment
#16
REVIEW
Paolo Feltracco, Annachiara Cagnin, Cristiana Carollo, Stefania Barbieri, Carlo Ori
Compromised liver function, as a consequence of acute liver insufficiency or severe chronic liver disease may be associated with various neurological syndromes, which involve both central and peripheral nervous system. Acute and severe hyperammoniemia inducing cellular metabolic alterations, prolonged state of "neuroinflammation", activation of brain microglia, accumulation of manganese and ammonia, and systemic inflammation are the main causative factors of brain damage in liver failure. The most widely recognized neurological complications of serious hepatocellular failure include hepatic encephalopathy, diffuse cerebral edema, Wilson disease, hepatic myelopathy, acquired hepatocerebral degeneration, cirrhosis-related Parkinsonism and osmotic demyelination syndrome...
February 27, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28283332/corrigendum-to-challenges-in-pediatric-chronic-inflammatory-demyelinating-polyneuropathy-neuromuscular-disorders-26-12-2016-817-824
#17
Göknur Haliloğlu, Deniz Yüksel, Cağri Mesut Temoçin, Haluk Topaloğlu
No abstract text is available yet for this article.
March 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28283100/antecedent-anti-nmda-receptor-encephalitis-in-two-patients-with-multiple-sclerosis
#18
A Baheerathan, W J Brownlee, D T Chard, K Shields, R Gregory, S A Trip
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder characterised by psychiatric symptoms, movement disorder and seizures often evolving into a severe encephalopathy. An overlap has recently been recognised between anti-NMDAR encephalitis and inflammatory demyelinating disorders, particularly neuromyelitis optical spectrum disorder (NMOSD). In this case report, we describe two patients with an initial presentation consistent with anti-NMDAR encephalitis who have subsequently developed relapsing-remitting multiple sclerosis (MS) and discuss the literature pertaining to potential overlap between NMDAR encephalitis and inflammatory demyelinating disorders...
February 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28282627/anti-nmdar-encephalitis-followed-by-seropositive-neuromyelitis-optica-spectrum-disorder-a-case-report-and-literature-review
#19
REVIEW
Ye Ran, Lu Wang, Fangfang Zhang, Ran Ao, Zhao Dong, Shengyuan Yu
Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory central nervous system syndrome, and encephalitis associated with anti-N-methyl-d-aspartate receptor (NMDAR) antibodies is an autoimmune encephalopathy. A patient with both diseases, separately or simultaneously, is rare as a clinical phenomenon, but cannot be ignored. We report the clinical characteristics and imaging features of a special case with anti-NMDAR encephalitis followed by NMOSD. We subsequently reviewed the English language literature about demyelinating disorders with anti-NMDAR encephalitis...
February 27, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28276094/pathology-of-toxic-leucoencephalopathy-in-drug-abuse-supports-hypoxic-ischemic-pathophysiology-etiology
#20
Murad Alturkustani, Lee-Cyn Ang, David Ramsay
The histopathological features of leucoencephalopathy caused by illicit drugs (such as opioids and cocaine) are well documented in acute cases but not in long-survival cases. There are several hypotheses about the pathogenesis of this disorder, including hypoperfusion, direct drug toxicity resulting from the neurotoxic effects of the drug itself or contaminants in the illicit drug vehicle. We reviewed the post mortem findings in five males (aged 24 to 56 years, with survival intervals ranging from 7 days to 5 months) with a history of illicit drug use and concomitant fatal white matter changes...
March 9, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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