keyword
MENU ▼
Read by QxMD icon Read
search

Leukoencephalopathy

keyword
https://www.readbyqxmd.com/read/29790456/evaluation-of-neuroimaging-findings-of-central-nervous-system-complications-in-heart-transplant-recipients
#1
Hale Turnaoglu, Ahmet Muhtesem Agildere, Feride Kural Rahatli, Fuldem Yildirim Donmez, Ruhsen Ocal, Taner Sezer, Ufuk Can, Atilla Sezgin, Sait Aslamaci
OBJECTIVES: In this study, we presented neuroradiologic findings and diagnoses of neurologic complications in a series of heart transplant recipients. MATERIALS AND METHODS: A retrospective review was conducted at Başkent University Hospital. We searched the hospital and radiology databases and identified 109 heart transplant recipients. Thirty-one of these recipients had neuroradiologic evaluations secondary to presentation of neurologic symptoms after heart transplant, with 18 patients evaluated with computed tomography and 22 patients evaluated with magnetic resonance imaging (overlap of imaging-defined groups occurred in 9 recipients)...
May 23, 2018: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29787494/-barbell-sign-a-diagnostic-imaging-finding-in-progressive-multifocal-leukoencephalopathy
#2
A Fourie Bezuidenhout, Savvas Andronikou, Christelle Ackermann, Anne-Marie Du Plessis, Derik Basson, Rafeeque A Bhadelia
The recently proposed diagnostic algorithm for progressive multifocal leukoencephalopathy underscores the importance of imaging and emphasizes the role of the radiologist in the diagnostic workup. We describe a case series of patients with visual symptoms and a typical pattern of brain involvement in definite progressive multifocal leukoencephalopathy, for which we have coined the term barbell sign.
May 21, 2018: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/29785581/anti-jc-virus-antibody-sera-positivity-and-index-value-among-patients-with-multiple-sclerosis-may-be-correlated-with-age-sex-and-area-of-residence
#3
Sogol Koolaji, Narges Sistany Allahabadi, Arash Ahmadi, Sharareh Eskandarieh, Abdorreza Naser Moghadasi, Amir Reza Azimi, Mohammad Ali Sahraian
Anti-JC virus (JCV) antibody index is the predictive factor of progressive multifocal leukoencephalopathy (PML) for multiple sclerosis (MS) patients treating with natalizumab. The aim of this study is to evaluate the prevalence of anti-JCV antibody positivity and index among Iranian patients who are the candidate for natalizumab and its correlation with their demographic data and previous therapies. A cross-sectional design was assessed for receiving anti-JCV antibody test results between January 2014 and December 2016...
May 21, 2018: Journal of Neurovirology
https://www.readbyqxmd.com/read/29780132/a-japanese-case-of-cadasil-with-a-rare-mutation-in-exon-24-of-the-notch3-gene
#4
Yuka Ebihara, Hitoshi Mochizuki, Nobuyuki Ishii, Ikuko Mizuta, Kazutaka Shiomi, Toshiki Mizuno, Masamitsu Nakazato
A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.3879C>G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29774781/aging-and-lymphocyte-changes-by-immunomodulatory-therapies-impact-pml-risk-in-multiple-sclerosis-patients
#5
Elizabeth A Mills, Yang Mao-Draayer
New potent immunomodulatory therapies for multiple sclerosis (MS) are associated with increased risk for progressive multifocal leukoencephalopathy (PML). It is unclear why a subset of treated patients develops PML, but patient age has emerged as an important risk factor. PML is caused by the JC virus and aging is associated with immune senescence, which increases susceptibility to infection. With the goal of improving PML risk stratification, we here describe the lymphocyte changes that occur with disease-modifying therapies (DMTs) associated with high or moderate risk toward PML in MS patients, how these changes compare to immune aging, and which measures best correlate with risk...
May 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29768431/loss-of-htra1-serine-protease-induces-synthetic-modulation-of-aortic-vascular-smooth-muscle-cells
#6
Muthi Ikawati, Masashi Kawaichi, Chio Oka
Homozygous mutations of human HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). HtrA1-/- mice were examined for arterial abnormalities. Although their cerebral arteries were normal, the thoracic aorta was affected in HtrA1-/- mice. The number of vascular smooth muscle cells (VSMCs) in the aorta was increased in HtrA1-/- mice of 40 weeks or younger, but decreased thereafter. The cross-sectional area of the aorta was increased in HtrA1-/- mice of 40 weeks or older...
2018: PloS One
https://www.readbyqxmd.com/read/29767458/overlapping-but-distinct-roles-for-notch-receptors-in-human-cardiovascular-disease
#7
REVIEW
J A N Meester, A Verstraeten, M Alaerts, D Schepers, L Van Laer, B L Loeys
The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29760289/-neurocognitive-disorders-other-than-alzheimer-disease-vascular-dementia
#8
Mari Yoshida
Vascular dementia involves several mechanism of pathogenesis. Cerebral small vessel diseases play a central role in vascular dementia, including sporadic cerebral small vessel diseases, cerebral autosomal-dominant or autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL or CARASIL), cerebral amyloid angiopathy, and amyloid β-related angiitis. Although these diseases have different pathomechanisms, chronic white matter hypoperfusion contributes to development of neuronal dysfunction as a common pathway in vascular dementia...
May 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29757481/severe-white-matter-astrocytopathy-in-cadasil
#9
Yoshiki Hase, Aiqing Chen, Letitia L Bates, Lucinda J L Craggs, Yumi Yamamoto, Elizabeth Gemmell, Arthur E Oakley, Viktor I Korolchuk, Raj N Kalaria
Objectives Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterised by strategic white matter (WM) hyperintensities on MRI. Pathological features include WM degeneration, arteriolosclerosis, lacunar infarcts and the deposition of granular osmiophilic material. Based on the hypothesis that the gliovascular unit is compromised, we assessed the nature of astrocyte damage in the deep WM of CADASIL subjects. Methods We evaluated post-mortem brains from CADASIL, cerebral small vessel disease, similar age cognitively normal and older control subjects...
May 14, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29754703/progression-of-a-series-of-patients-with-relapsing-remitting-multiple-sclerosis-treated-for-7-years-with-natalizumab-using-the-no-evidence-of-disease-activity-parameter
#10
A Pato Pato, E Costa Arpín, A Rodríguez Regal, I Rodríguez Constenla, I Cimas Hernando, I Muñoz Pousa, L Naya Ríos, J R Lorenzo González, M C Amigo Jorrín, J M Prieto González
INTRODUCTION: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions. OBJECTIVE: To determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the "no evidence of disease activity" (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters...
May 10, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29752287/-rnaset2-knockout-rats-exhibit-hippocampal-neuropathology-and-deficits-in-memory
#11
Kerstin W Sinkevicius, Thomas R Morrison, Praveen Kulkarni, Martha K Caffrey Cagliostro, Sade Iriah, Samantha Malmberg, Julia Sabrick, Jennifer A Honeycutt, Kim L Askew, Malav Trivedi, Craig F Ferris
RNASET2 deficiency in humans is associated with infant cystic leukoencephalopathy, which causes psychomotor impairment, spasticity, and epilepsy. A zebrafish mutant model suggests that loss of RNASET2 function leads to neurodegeneration due to the accumulation of non-degraded RNA in the lysosomes. The goal of this study was to characterize the first rodent model of RNASET2 deficiency. The brains of 3- and 12-month-old RNaseT2 knockout rats were studied using multiple magnetic resonance imaging modalities and behavioral tests...
May 10, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29749055/aars2-related-ovarioleukodystrophy-clinical-and-neuroimaging-features-of-three-new-cases
#12
I Taglia, I Di Donato, S Bianchi, A Cerase, L Monti, R Marconi, A Orrico, A Rufa, A Federico, M T Dotti
INTRODUCTION: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), previously known as hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) or pigmentary orthochromatic leukodystrophy (POLD), is the most frequent non-vascular adult-onset leukoencephalopathy. It is caused by autosomal dominant mutations in CSF1R gene. Recently, also autosomal recessive mutations in AARS2 gene were found to be the cause of an adult-onset leukodystrophy with axonal spheroids...
May 10, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29740202/anti-integrin-therapy-for-inflammatory-bowel-disease
#13
REVIEW
Sung Chul Park, Yoon Tae Jeen
In inflammatory bowel disease (IBD), tumor necrosis factor plays an important role in mediating inflammation, but several other pathways are also involved in eliciting an inflammatory response. One such pathway is the invasion of the intestinal mucosa by leukocytes. Leukocytes within the systemic circulation move to sites of inflammation, and blocking this pathway could be an important treatment strategy for IBD. Anti-integrin therapy blocks the action of integrin on the surface of circulating immune cells and endothelial cell adhesion molecules, thereby inhibiting the interactions between leukocytes and intestinal blood vessels...
May 7, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29738026/posterior-reversible-leukoencephalopathy-syndrome-pres-after-kidney-transplantation-a-case-report
#14
Carla Beatriz Davi, Bruna Pinheiro de Moraes, Bruno Fontes Lichtenfels, João Batista Saldanha de Castro Filho, Marcelle Maria Portal, Rosangela Munhoz Montenegro, Roberto Ceratti Manfro
INTRODUCTION: Posterior reversible leukoencephalopathy syndrome (PRES) was first described by Hinchey in 1996. The syndrome is characterized by altered level of consciousness, headache, visual changes, and seizures associated with a vasogenic edema of the white matter that occurs predominantly in the occipital and parietal lobes. Imaging tests such as computed tomography (CT) and especially magnetic resonance imaging (MRI) support the diagnosis. CASE REPORT: We report a case of a 48-year-old female patient who underwent a deceased donor kidney transplant and received tacrolimus as a part of the immunosuppressive regimen...
April 19, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29737503/a-programme-for-risk-assessment-and-minimisation-of-progressive-multifocal-leukoencephalopathy-developed-for-vedolizumab-clinical-trials
#15
Asit Parikh, Kristin Stephens, Eugene Major, Irving Fox, Catherine Milch, Serap Sankoh, Michael H Lev, James M Provenzale, Jesse Shick, Mark Patti, Megan McAuliffe, Joseph R Berger, David B Clifford
INTRODUCTION: Over the past decade, the potential for drug-associated progressive multifocal leukoencephalopathy (PML) has become an increasingly important consideration in certain drug development programmes, particularly those of immunomodulatory biologics. Whether the risk of PML with an investigational agent is proven (e.g. extrapolated from relevant experience, such as a class effect) or merely theoretical, the serious consequences of acquiring PML require careful risk minimisation and assessment...
May 8, 2018: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/29725820/cadasil-brain-vessels-show-a-htra1-loss-of-function-profile
#16
Andreas Zellner, Eva Scharrer, Thomas Arzberger, Chio Oka, Valérie Domenga-Denier, Anne Joutel, Stefan F Lichtenthaler, Stephan A Müller, Martin Dichgans, Christof Haffner
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD ) and the formation of protein deposits of insufficiently determined composition in vessel walls...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29725611/fingolimod-associated-pml-with-mild-iris-in-ms-a-clinicopathologic-study
#17
Shuhei Nishiyama, Tatsuro Misu, Yukiko Shishido-Hara, Kazuo Nakamichi, Masayuki Saijo, Yoshiki Takai, Kentarou Takei, Naoki Yamamoto, Hiroshi Kuroda, Ryuta Saito, Mika Watanabe, Teiji Tominaga, Ichiro Nakashima, Kazuo Fujihara, Masashi Aoki
Objective: To clarify the clinical, neuropathologic, and virologic characteristics of progressive multifocal leukoencephalopathy (PML) and its immune reconstitution inflammatory syndrome (IRIS) in a patient with fingolimod-treated MS. Methods: A case study. Results: A 34-year-old patient with MS using fingolimod for 4 years had a gradual progression of right hemiparesis and aphasia with a new subcortical white matter lesion in the precentral gyrus by initial MRI...
January 2018: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29724903/natural-history-of-gata2-deficiency-in-a-survey-of-79-french-and-belgian-patients
#18
Jean Donadieu, Marie Lamant, Claire Fieschi, Flore Sicre de Fontbrune, Aurélie Caye, Marie Ouachee, Blandine Beaupain, Jacinta Bustamante, Hélène A Poirel, Bertrand Isidor, Eric Van Den Neste, Antoine Neel, Stanislas Nimubona, Fabienne Toutain, Vincent Barlogis, Nicolas Schleinitz, Thierry Leblanc, Pierre Rohrlich, Felipe Suarez, Dana Ranta, Wahid Abou Chahla, Bénédicte Bruno, Louis Terriou, Sylvie Francois, Bruno Lioure, Guido Ahle, Françoise Bachelerie, Claude Preudhomme, Eric Delabesse, Hélène Cavé, Christine Bellanné-Chantelot, Marlène Pasquet
Heterozygous germline GATA2 mutations strongly predispose to leukaemia, immunodeficiency, and/or lymphoedema. We now describe a series of 79 patients (53 families) diagnosed since 2011, compiling all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.6 years (range, 0-61 years). Severe infectious diseases (mycobacteria, fungus, and human papilloma virus) and haematological malignancies were the most common first manifestations. The probability of remaining symptom-free was 8% at 40 years old...
May 3, 2018: Haematologica
https://www.readbyqxmd.com/read/29724377/editors-welcome-pregnancy-and-progressive-multifocal-leukoencephalopathy
#19
EDITORIAL
Michael Levy, Gavin Giovannoni, Chris Hawkes, Emmanuelle Waubant
No abstract text is available yet for this article.
April 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29720600/small-nuclear-rna-mediated-modulation-of-splicing-reveals-a-therapeutic-strategy-for-a-trem2-mutation-and-its-post-transcriptional-regulation
#20
Motoaki Yanaizu, Kenji Sakai, Youhei Tosaki, Yoshihiro Kino, Jun-Ichi Satoh
Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (NHD), a rare genetic disease characterized by early-onset dementia with leukoencephalopathy and bone cysts. An NHD-associated mutation, c.482 + 2 T > C, disrupts the splice donor site of intron 3 and causes aberrant skipping of exon 3, resulting in the loss of full-length TREM2 protein. Here, we examined the efficacy of artificial U1 and U7 small nuclear RNAs (snRNAs) designed to enhance exon 3 inclusion. Using mutant TREM2 minigenes, we found that some modified U1, but not U7, snRNAs enhanced exon 3 inclusion and restored TREM2 protein expression...
May 2, 2018: Scientific Reports
keyword
keyword
45903
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"