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Leukoencephalopathy

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https://www.readbyqxmd.com/read/28936091/delayed-onset-reversible-cortical-blindness-after-resuscitation-from-cardiac-arrest
#1
Aaron de Souza, Rainha J de Souza, Varun R Pai Kakode
We present a patient who presented with cortical blindness (CB) 1 week after repeated cardiac arrest while undergoing treatment for an acute myocardial infarction. He had been revived within 5 min in each instance and was apparently neurologically normal until presentation. Magnetic resonance imaging showed subtle hyperintensities on fluid-attenuated inversion recovery and diffusion-weighted imaging in both temporooccipital cortices. A rapid recovery over the next 2 weeks was remarkable for the appearance of metamorphopsia...
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28932291/neurological-safety-of-fingolimod-an-updated-review
#2
REVIEW
Fumihito Yoshii, Yusuke Moriya, Tomohide Ohnuki, Masafuchi Ryo, Wakoh Takahashi
Fingolimod (FTY) is the first oral medication approved for treatment of relapsing-remitting multiple sclerosis (RRMS). Its effectiveness and safety were confirmed in several phase III clinical trials, but proper evaluation of safety in the real patient population requires long-term post-marketing monitoring. Since the approval of FTY for RRMS in Japan in 2011, it has been administered to approximately 5000 MS patients, and there have been side-effect reports from 1750 patients. Major events included infectious diseases, hepatobiliary disorders, nervous system disorders and cardiac disorders...
August 2017: Clinical & Experimental Neuroimmunology
https://www.readbyqxmd.com/read/28929580/selective-expression-of-egfp-in-mouse-perivascular-astrocytes-by-modification-of-the-mlc1-gene-using-t2a-based-ribosome-skipping
#3
Jordan J Toutounchian, Joseph H McCarty
Perivascular astrocyte end feet closely juxtapose cerebral blood vessels to regulate important developmental and physiological processes including endothelial cell proliferation and sprouting as well as the formation of the blood-brain barrier (BBB). The mechanisms underlying these events remain largely unknown due to a lack of experimental models for identifying perivascular astrocytes and distinguishing these cell types from other astroglial populations. Megalencephalic leukoencephalopathy with subcortical cysts 1 (Mlc1) is a transmembrane protein that is expressed in perivascular astrocyte end feet where it controls BBB development and homeostasis...
September 20, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28928709/insight-into-metabolic-1-h-mrs-changes-in-natalizumab-induced-progressive-multifocal-leukoencephalopathy-brain-lesions
#4
Ruth Schneider, Barbara Bellenberg, Robert Hoepner, Gisa Ellrichmann, Ralf Gold, Carsten Lukas
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a severe complication of immunosuppressive therapies, especially of natalizumab in relapsing-remitting multiple sclerosis (MS). Metabolic changes within PML lesions have not yet been described in natalizumab-associated PML in MS patients. OBJECTIVE: To study metabolic profiles in natalizumab-associated PML lesions of MS patients by (1)H magnetic resonance spectroscopy ((1)H-MRS) at different stages during the PML course...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28927823/t-cell-therapies-for-human-polyomavirus-diseases
#5
REVIEW
Sarah I Davies, Pawel Muranski
Rapid restoration of virus-specific T immunity via adoptive transfer of ex vivo generated T cells has been proven as a powerful therapy for patients with advanced cancers and refractory viral infections such as cytomegalovirus (CMV) and Epstein-Barr virus (EBV). BK virus (BKV), John Cunningham virus (JCV), and Merkel cell carcinoma virus (MCV) are the members of the rapidly growing human polyomavirus (hPyV) family that commonly infects most healthy humans. These viruses have a clearly established potential for causing severe end-organ damage or malignant transformation, especially in individuals with weakened immunity who are unable to mount or regain endogenous T-cell responses as a result of underlying leukemia or iatrogenic immunosuppression in autoimmunity, bone marrow and solid organ transplant settings...
September 15, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28921817/diagnostic-criteria-for-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-due-to-csf1r-mutation
#6
Takuya Konno, Kunihiro Yoshida, Ikuko Mizuta, Toshiki Mizuno, Toshitaka Kawarai, Masayoshi Tada, Hiroaki Nozaki, Shu-Ichi Ikeda, Osamu Onodera, Zbigniew K Wszolek, Takeshi Ikeuchi
BACKGROUND: To establish and validate diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony stimulating factor 1 receptor (CSF1R) mutation. METHODS: We developed diagnostic criteria for ALSP based on a recent analysis of the clinical characteristics of ALSP. These criteria provide "probable" and "possible" designations for patients who do not have a genetic diagnosis. To verify its sensitivity and specificity, we retrospectively applied our criteria to 83 ALSP cases who had CSF1R mutations (24 of these were analyzed at our institutions, and the others were identified from the literature), 53 cases who had CSF1R mutation-negative leukoencephalopathies, and 32 cases who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with NOTCH3 mutations...
September 18, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28916311/lenalidomide-maintenance-after-first-line-therapy-for-high-risk-chronic-lymphocytic-leukaemia-cllm1-final-results-from-a-randomised-double-blind-phase-3-study
#7
Anna Maria Fink, Jasmin Bahlo, Sandra Robrecht, Othman Al-Sawaf, Ali Aldaoud, Holger Hebart, Kathleen Jentsch-Ullrich, Steffen Dörfel, Kirsten Fischer, Clemens-Martin Wendtner, Thomas Nösslinger, Paolo Ghia, Francesc Bosch, Arnon P Kater, Hartmut Döhner, Michael Kneba, Karl-Anton Kreuzer, Eugen Tausch, Stephan Stilgenbauer, Matthias Ritgen, Sebastian Böttcher, Barbara Eichhorst, Michael Hallek
BACKGROUND: The combined use of genetic markers and detectable minimal residual disease identifies patients with chronic lymphocytic leukaemia with poor outcome after first-line chemoimmunotherapy. We aimed to assess lenalidomide maintenance therapy in these high-risk patients. METHODS: In this randomised, double-blind, phase 3 study (CLLM1; CLL Maintenance 1 of the German CLL Study Group), patients older than 18 years and diagnosed with immunophenotypically confirmed chronic lymphocytic leukaemia with active disease, who responded to chemoimmunotherapy 2-5 months after completion of first-line therapy and who were assessed as having a high risk for an early progression with at least a partial response after four or more cycles of first-line chemoimmunotherapy, were eligible if they had high minimal residual disease levels or intermediate levels combined with an unmutated IGHV gene status or TP53 alterations...
September 12, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#8
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28913726/diagnosis-and-treatment-of-progressive-multifocal-leukoencephalopathy-associated-with-multiple-sclerosis-therapies
#9
REVIEW
Eric M L Williamson, Joseph R Berger
Progressive multifocal leukoencephalopathy (PML) is a rare, but serious, complication encountered in patients treated with a select number of disease-modifying therapies (DMTs) utilized in treating multiple sclerosis (MS). PML results from a viral infection in the brain for which the only demonstrated effective therapy is restoring the perturbed immune system-typically achieved in the patient with MS by removing the offending therapeutic agent or, in the case of HIV-associated PML, treatment with highly active antiretroviral therapies...
September 14, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28913435/iba57-mutations-abrogate-iron-sulfur-cluster-assembly-leading-to-cavitating-leukoencephalopathy
#10
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, Satoru Noguchi, Satomi Mitsuhashi, Yukari Endo, Yukiko K Hayashi, Yoshiaki Saito, Eiji Nakagawa, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Ikuya Nonaka, Yu-Ichi Goto, Ichizo Nishino
OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28912987/cerebellar-involvement-in-an-immunocompetent-patient-presenting-with-progressive-multifocal-leukoencephalopathy
#11
Rafael Garcia-Carretero, Blanca San Jose Montano
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease caused by the JC virus, a polyomavirus that can be reactivated under certain immunosuppressive conditions, such as AIDS, immunomodulatory therapy, and haematological malignancies. However, a few cases of immunocompetent patients have been reported in which no immunodeficiency was present. We describe the case of an 83-year-old immunocompetent man who presented with severe cerebellar symptoms with an MRI scan suggestive of severe demyelinating disease...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28910968/efficiency-of-antibody-therapy-in-demyelinating-diseases
#12
Tetsuya Akaishi, Ichiro Nakashima
Monoclonal antibody therapy is a new treatment strategy for many types of diseases including cancers and autoimmune diseases, realizing a high efficacy and tolerability. In multiple sclerosis (MS) and neuromyelitis optica (NMO) spectrum disorders, several monoclonal antibodies have been suggested to decrease the incidence of clinical relapse and the disease activity. In MS, anti-α4 integrin (natalizumab), anti-CD52 (alemtuzumab), anti-CD25 (daclizumab) and anti-CD20 (ocrelizumab) have been shown to effectively reduce the relapses in randomized controlled trials and have been approved by the Food and Drug Administration...
July 1, 2017: International Immunology
https://www.readbyqxmd.com/read/28905383/leukoencephalopathy-causing-clcn2-mutations-are-associated-with-impaired-cl-channel-function-and-trafficking
#13
Héctor Gaitán-Peñas, Pirjo M Apaja, Tanit Arnedo, Aida Castellanos, Xabier Elorza-Vidal, David Soto, Xavier Gasull, Gergely L Lukacs, Raúl Estévez
Mutations in CLCN2 have been recently identified in patients suffering from a type of leukoencephalopathy involving intramyelinic oedema. Here, we characterised most of these mutations, which reduce the function of the chloride channel ClC-2 and impair its plasma membrane (PM) expression. Detailed biochemical and electrophysiological analyses of the Ala500Val mutation revealed that defective gating and increased cellular and PM turnover contributed to defective A500V-ClC-2 functional expression. Co-expression of the adhesion molecule GlialCAM, which forms a tertiary complex with ClC-2 and megalencephalic leukoencephalopathy with subcortical cyst 1 (MLC1), rescued the functional expression of the mutant by modifying its gating properties...
September 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28902129/systematic-review-of-cysteine-sparing-notch3-missense-mutations-in-patients-with-clinical-suspicion-of-cadasil
#14
REVIEW
Elena Muiño, Cristina Gallego-Fabrega, Natalia Cullell, Caty Carrera, Nuria Torres, Jurek Krupinski, Jaume Roquer, Joan Montaner, Israel Fernández-Cadenas
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of cysteine-sparing NOTCH3 missense mutations in patients with typical clinical CADASIL syndrome is unknown. The aim of this article is to describe these mutations to clarify if any could be potentially pathogenic. Articles on cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL were reviewed...
September 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28900866/progressive-multifocal-leukoencephalopathy-11%C3%A2-years-after-liver-transplantation-a-case-report
#15
Ana Moreno-Estébanez, Javier Almeida Velasco, Tomás Pérez-Concha, Tirso González-Pinto, Iñigo Gabilondo
Progressive multifocal leukoencephalopathy (PML) is an opportunistic infection of the central nervous system caused by JC virus. Only ten cases of PML have been reported so far in liver transplant recipients. We present a case of liver posttransplantation PML with characteristic clinical and brain MRI findings, but with an atypical late onset, developed 11 years after transplantation and after single-drug, long-term (8 years), and low-dose (750 mg twice a day) immunosuppression with mycophenolate mofetil (MMF)...
September 12, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28900067/-dimethyl-fumarate-in-multiple-sclerosis
#16
Masami Tanaka, Yuko Shimizu
At the end of 2016, dimethyl fumarate (DMF) was approved as the sixth disease-modifying drug for multiple sclerosis by the Pharmaceuticals and Medical Devices Agency of Japan. Two randomized, placebo-controlled, phase III studies (DEFINE and CONFIRM) showed beneficial effects in patients in Western countries, with relapsing-remitting multiple sclerosis (RRMS). Some of the benefits included a decreased annual relapse rate, inhibition of disease activity (shown using brain magnetic resonance imaging), and a decreased proportion of patients with confirmed disease progression...
September 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28893007/mri-in-chemotherapy-induced-leukoencephalopathy-report-of-two-cases-and-radiologist-s-perspective
#17
Geetika Sindhwani, Manali Arora, Vishal Dhirenbhai Thakker, Abhinav Jain
Leukoencephalopathy is a progressive white matter disease primarily caused due to myelin damage by a variety of factors. Chemotherapy for oncological treatment is an uncommon but important cause of potentially reversible leukoencephalopathy. In current radiological setting, conventional and diffusion weighted MRI play a significant role in early and accurate detection of this entity. We are hereby presenting MRI evaluation of two cases of methotrexate and 5-fluorouracil induced toxic leukoencephalopathy.
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28887846/mutations-in-kars-cause-early-onset-hearing-loss-and-leukoencepha-lopathy-potential-pathogenic-mechanism
#18
Xiao-Long Zhou, Long-Xia He, Li-Jia Yu, Yong Wang, Xi-Jin Wang, En-Duo Wang, Tao Yang
Leukoencephalopathies are a broad class of common neurologic deterioration for which the etiology remain unsolved in many cases. In a Chinese Han family segregated with sensorineural hearing loss and leukoencephalopathy, candidate pathogenic variants were identified by targeted next-generation sequencing of 144 genes associated with deafness and 108 genes with leukoencephalopathy. Novel compound heterozygous mutations p.R477H and p.P505S were identified in KARS, which encodes lysyl-tRNA synthetase (LysRS), as the only candidate causative variants...
September 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28879898/progressive-multifocal-leukoencephalopathy-in-a-44-year-old-male-with-idiopathic-cd4-t-lymphocytopenia-treated-with-mirtazapine-and-mefloquine
#19
Aruna Nambirajan, Vaishali Suri, Vijay Kataria, Mehar C Sharma, Vinay Goyal
Progressive multifocal leukoencephalopathy (PML) is an opportunistic viral infection of the central nervous system caused by the reactivation of John Cunningham virus (JCV) in immunocompromised patients, most commonly in human immunodeficiency virus (HIV) infection, and less commonly in those receiving various immunosuppressive regimens. Prognosis of untreated PML is grave and the mainstay of treatment is the reversal of immunosuppression, usually by institution of antiretroviral drugs in HIV patients and cessation of immunosuppressive therapies in others...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28878299/a-study-on-clinicoradiological-characteristics-and-pregnancy-outcomes-of-reversible-posterior-leukoencephalopathy-syndrome-in-preeclampsia-or-eclampsia
#20
Xiaobo Fang, Yanling Liang, Dunjin Chen, Fang He, Jia Chen, Fami Huang
Reversible posterior leukoencephalopathy syndrome (RPLS) is a critical maternal complication in preeclampsia or eclampsia during pregnancy. However, studies regarding the clinicoradiological and outcome differences between RPLS and non-RPLS pregnancies are scarce. We aimed to explore the incidence of RPLS, and summarize the clinicoradiological characteristics and pregnancy outcomes. We consecutively collected a total of 100 patients who were diagnosed with preeclampsia or eclampsia, and examined via magnetic resonance imaging (MRI) among 21 872 women between 2013 and 2016...
September 7, 2017: Hypertension Research: Official Journal of the Japanese Society of Hypertension
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