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leukoencephalopathies

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https://www.readbyqxmd.com/read/29221753/pura-the-gene-encoding-pur-alpha-member-of-an-ancient-nucleic-acid-binding-protein-family-with-mammalian-neurological-functions
#1
REVIEW
Dianne C Daniel, Edward M Johnson
The PURA gene encodes Pur-alpha, a 322 amino acid protein with repeated nucleic acid binding domains that are highly conserved from bacteria through humans. PUR genes with a single copy of this domain have been detected so far in spirochetes and bacteroides. Lower eukaryotes possess one copy of the PUR gene, whereas chordates possess 1-4 PUR family members. Human PUR genes encode Pur-alpha (Pura), Pur-beta (Purb) and two forms of Pur-gamma (Purg). Pur-alpha is a protein that binds specific DNA and RNA sequence elements...
December 5, 2017: Gene
https://www.readbyqxmd.com/read/29218261/bilateral-occipital-lobe-hemorrhages-presenting-as-denial-of-blindness-in-posterior-reversible-encephalopathy-syndrome-a-rare-combination-of-anton-syndrome-and-encephalopathy
#2
Raja Godasi, Chintan Rupareliya, Pradeep C Bollu
Posterior reversible encephalopathy syndrome (PRES) or reversible posterior leukoencephalopathy (RPL) is an acute neurological syndrome characterized by the development of radiological abnormalities on brain imaging along with clinical manifestations, such as a headache, seizures, encephalopathy, etc. We report the case of a middle-aged male who presented to the emergency department after he woke up with complete blindness and was found to have hemorrhagic PRES. Intracranial hemorrhages were seen in around 15% of patients who presented with this condition...
October 4, 2017: Curēus
https://www.readbyqxmd.com/read/29204962/adult-leukoencephalopathies-with-prominent-infratentorial-involvement-can-be-caused-by-erdheim-chester-disease
#3
Luisa Chiapparini, Giulio Cavalli, Tiziana Langella, Anna Venerando, Giacomo De Luca, Sergio Raspante, Giorgio Marotta, Bianca Pollo, Giuseppe Lauria, Maria Giulia Cangi, Simonetta Gerevini, Andrea Botturi, Davide Pareyson, Lorenzo Dagna, Ettore Salsano
BACKGROUND: Leukoencephalopathies with prominent involvement of cerebellum and brainstem, henceforward called prominent infratentorial leukoencephalopathies (PILs), encompass a variety of inherited and acquired white matter diseases. Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis likely under-diagnosed as cause of adult PIL. METHODS: We reviewed the clinical and laboratory information of ten consecutive sporadic adult patients with PIL of unknown origin, who were investigated for ECD...
December 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29200254/-lack-of-knowledge-is-no-excuse-hiv-positive-patient-with-progressive-multifocal-leukoencephalopathy-case-report-from-kenya
#4
(no author information available yet)
Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease that affects the central nervous system, which has high morbidity and mortality and no effective, targeted therapies are available. According to the data from developing countries, it affects about 3 to 5% patients who are HIV positive. We present a case of a 27-year-old patient, who got infected with the HIV virus from his mother. The patient had poor compliance to the therapy since its initiation. Due to poor compliance and immunological and virological failure of the first line ARVs, the patient developed PML...
November 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29198072/pres-in-the-course-of-hemato-oncological-treatment-in-children
#5
Katarzyna Musioł, Sylwia Waz, Michał Boroń, Magdalena Kwiatek, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Grażyna Sobol-Milejska
INTRODUCTION: Posterior reversible leukoencephalopathy syndrome (PRES) is a clinical syndrome of varying aetiologies, characterised by acute neurological symptoms of brain dysfunction with MRI abnormalities in posterior cerebral white and grey matter. In most cases, symptoms resolve without neurological consequences. AIM: The aim of this paper is the analysis of predisposing factors, clinical outcomes and radiological features of PRES in eight children with hemato-oncological disease...
December 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29196778/disappearing-leukoencephalopathy-a%C3%A2-case-of-relapsing-remitting-intravascular-large-b%C3%A2-cell-lymphoma-with-transient-spontaneous-radiographic-regression
#6
Amy M Chan, Anita Huttner, Joachim Baehring
No abstract text is available yet for this article.
December 1, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29190599/irreversible-lesions-of-tacrolimus-induced-posterior-reversible-leukoencephalopathy-syndrome
#7
Shokoufeh Savaj, Maryam Farasatinasab, Atefeh Amouzegar
No abstract text is available yet for this article.
November 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29188608/-cadasil-with-clinical-manifestations-of-baldness-lumbago-and-parkinson-s-symptoms
#8
Zhixia Ren, Shuai Chen, Yingying Shi, Yuanxing Zhang, Wan Wang, Zuzhi Chen, Mingrong Xia, Xiaohong Shi, Jiewen Zhang
OBJECTIVE: To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms. METHODS: Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing. RESULTS: The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29188607/-notch3-gene-mutations-in-two-chinese-families-featuring-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarct-and-leucoencephalopathy
#9
Qiying Sun, Wenwen Li, Yafang Zhou, Fang Yi, Jianfeng Wang, Yacen Hu, Lingyan Yao, Lin Zhou, Hongwei Xu
OBJECTIVE: To analyze potential mutations of the NOTCH3 gene in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL). METHODS: The two probands and related family members and 100 healthy controls were recruited. Potential mutations of the NOTCH3 gene were screened by PCR and direct sequencing. PolyPhen-2 and SIFT software were used to predict the protein function. RESULTS: The conditions of both probands were adult-onset, with main clinical features including recurrent transient ischemic attacks and/or strokes, cognitive impairment...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29182995/cocaine-induced-multifocal-leukoencephalopathy-mimicking-balo-s-concentric-sclerosis-a-2-year-follow-up-with-serial-imaging-of-a-single-patient
#10
Ayse Sagduyu Kocaman, Pinar Yalinay Dikmen, Ercan Karaarslan
Cocaine abuse may cause stroke, metabolic or multifocal inflammatory leukoencephalopathy. We described a patient with cocaine abuse who presented with Balo's type acute multifocal leukoencephalopathy. Magnetic Resonance Imaging (MRI) of the brain showed onion like patchy concentric ring enhancement on T1-weighted MRI with gadolinium. Balo's Concentric Sclerosis like radiological findings related to cocaine has not been reported. Levamisole is now frequently used as an ingredient in cocaine and may cause leukoencephalopathy...
November 20, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29167217/5-fu-induced-leukoencephalopathy-with-reversible-lesion-of-splenium-of-corpus-callosum-in-a-patient-with-colorectal-cancer
#11
Gyanendra Acharya, Maria T Cruz Carreras, Terry Wynne Rice
5-Fluorouracil (5-FU), a commonly used antimetabolite and antineoplastic agent, has been approved for treatment of various cancers. Neurotoxicities are considered extremely rare side effects of 5-FU. We present a case of 5-FU-induced encephalopathy with diffusion-restricted reversible lesion of the splenium of the corpus callosum in a patient with colorectal cancer. The patient presented with confusion, dysarthria and agitation after 5-FU infusion. The prognosis of this toxic effects of 5-FU is usually good if recognised and treated in time...
November 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29165288/treatment-related-noncontiguous-radiologic-changes-in-children-with-diffuse-intrinsic-pontine-glioma-treated-with-expanded-irradiation-fields-and-antiangiogenic-therapy
#12
Zoltan Patay, Thomas E Merchant, Rosa Nguyen, Christopher R Pierson, Arzu Onar-Thomas, Alberto Broniscer
PURPOSE: We previously reported the cases of 3 children with diffuse intrinsic pontine glioma (DIPG) in whom noncontiguous treatment-related abnormalities (NCTRAs) developed in the brain after expanded-field radiation therapy (RT). To investigate the occurrence and putative mechanism of NCTRAs, we reviewed brain magnetic resonance imaging studies of patients with DIPG treated in 2 consecutive phase I clinical trials (trials 1 and 2). METHODS AND MATERIALS: The 55 children included in these trials received small-molecule inhibitors: vandetanib in trial 1 (n=32; mean age 6...
December 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29160546/cortical-blindness-secondary-to-posterior-reversible-encephalopathy-syndrome-recovered-by-successful-blood-pressure-management
#13
José Manuel Abalo-Lojo, Sandra Baleato-González, Francisco Gonzalez
We report a case of cortical blindness secondary to posterior leukoencephalopathy syndrome, which was successfully treated by blood pressure management. A 66-year-old white man presented at the emergency room complaining of severe frontal headache, disorientation, and progressive blurred vision. The initial physical examination disclosed a blood pressure of 200/176 mmHg. One hour later the patient exhibited mental confusion and bilateral blindness. Computed tomography and magnetic resonance imaging were performed, and a systemic workup was conducted, resulting in a diagnosis of posterior leukoencephalopathy syndrome...
September 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29159704/neuroimmune-regulation-of-jc-virus-by-intracellular-and-extracellular-agnoprotein
#14
Michael Craigie, Stephanie Cicalese, Ilker Kudret Sariyer
JC virus (JCV) is a human polyomavirus and the etiologic agent of the demyelinating disease progressive multifocal leukoencephalopathy (PML). PML is observed in patients with underlying immunocompromising conditions, suggesting that neuro-immune interactions between peripheral immune cells and neuro-glia play an important role in controlling viral reactivation in the brain. There is little known about the immunobiology of JCV reactivation in glial cells and the role of immune, glial, and viral players in this regulation...
November 20, 2017: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/29152583/inhibition-of-retrograde-transport-limits-polyomavirus-infection-in-vivo
#15
Saumya Maru, Ge Jin, Dhimant Desai, Shantu Amin, Shwetank, Matthew D Lauver, Aron E Lukacher
Polyomaviruses (PyVs) silently infect most humans, but they can cause life-threatening diseases in immunocompromised individuals. The JC polyomavirus (JCPyV) induces progressive multifocal leukoencephalopathy, a severe demyelinating disease in multiple sclerosis patients receiving immunomodulatory therapy, and BK polyomavirus (BKPyV)-associated nephropathy is a major cause of kidney allograft failure. No effective anti-PyV agents are available. Several compounds have been reported to possess anti-PyV activity in vitro, but none have shown efficacy in clinical trials...
November 2017: MSphere
https://www.readbyqxmd.com/read/29150375/type-i-interferon-and-proinflammatory-cytokine-levels-in-cerebrospinal-fluid-of-newborns-with-rotavirus-associated-leukoencephalopathy
#16
Kyung Yeon Lee, Chang Hoon Moon, Seong Hoon Choi
OBJECTIVE: The purpose of this study was to identify whether there is an increase in type I interferon and proinflammatory cytokine levels in the cerebrospinal fluid of newborns with rotavirus-associated leukoencephalopathy. METHODS: Levels of type I interferons (interferon-alpha and interferon-beta) and proinflammatory cytokines (interleukin-6 and interferon-gamma) were measured in the cerebrospinal fluid of 23 newborns with rotavirus-associated leukoencephalopathy (patient group) and 39 infants under 90 days-of-age (control group)...
November 14, 2017: Brain & Development
https://www.readbyqxmd.com/read/29147736/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-not-always-lactate-elevation
#17
Ralph Werner, Elisabeth Daum, Stephan Felber, Johannes C Wöhrle
No abstract text is available yet for this article.
November 16, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29146954/multiple-sclerosis-progressive-multifocal-leukoencephalopathy-risk-stratification
#18
Kalliopi Pitarokoili, Ralf Gold
No abstract text is available yet for this article.
December 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29146215/-acute-methotrexate-related-neurotoxicity-and-pseudo-stroke-syndrome
#19
V Deneux, N Leboucq, L Saumet, S Haouy, T Akbaraly, N Sirvent
Treatment of acute lymphoblastic leukemia requires high-dose systemic and/or intrathecal methotrexate to prevent and/or treat central nervous system disorders. Acute neurotoxicity of methotrexate, of unknown etiopathogenesis, is characterized by the polymorphism of clinical manifestations, responsible for a potentially harmful diagnostic delay in these immunosuppressed patients. We describe five episodes of transient acute leukoencephalopathy mimicking a stroke, reported in the literature as "pseudo-stroke syndrome"...
November 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29143589/biomarkers-in-the-evolution-of-multiple-sclerosis
#20
Thomas Berger
Nonimaging biomarkers can be applied in differential diagnosis, evaluation of disease progression and therapy monitoring of multiple sclerosis (MS). Presence of oligoclonal IgG bands in cerebrospinal fluid is a diagnostic element and a negative predictor of MS evolution. AQP4 antibodies are pathogenic and diagnostic for neuromyelitis optica spectrum disorder. Antibodies to myelin oligodendrocyte glycoprotein develop in about 50% of predominantly pediatric patients with acute disseminated encephalomyelitis, but their possible role in pathogenesis is unknown...
November 2017: Neurodegenerative Disease Management
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