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Brain Pathology

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https://www.readbyqxmd.com/read/28321951/transcriptional-network-analysis-in-frontal-cortex-in-lewy-body-diseases-with-focus-on-dementia-with-lewy-bodies
#1
Gabriel Santpere, Paula Garcia-Esparcia, Pol Andres-Benito, Belen Lorente-Galdos, Arcadi Navarro, Isidro Ferrer
The present study investigates global transcriptional changes in frontal cortex area 8 in incidental Lewy Body disease (iLBD), Parkinson disease (PD) and Dementia with Lewy bodies (DLB). We identified different co-expressed gene sets associated with disease stages, and gene ontology categories enriched in gene modules and differentially expressed genes including modules or gene clusters correlated to iLBD comprising upregulated dynein genes and taste receptors, and down-regulated innate inflammation. Focusing on DLB, we found modules with genes significantly enriched in functions related to RNA and DNA production, mitochondria and energy metabolism, purine metabolism, chaperone and protein folding system, and synapses and neurotransmission (particularly the GABAergic system)...
March 21, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28281318/intracranial-myxoid-mesenchymal-tumors-with-ewsr1-creb-family-gene-fusions-myxoid-variant-of-angiomatoid-fibrous-histiocytoma-or-novel-entity
#2
Tejus A Bale, Angelica Oviedo, Harry Kozakewich, Caterina Giannini, Phani K Davineni, Keith Ligon, Sanda Alexandrescu
BACKGROUND: Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present 3 pediatric patients with intracranial EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. METHODS: Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) were performed...
March 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28281308/overlapping-but-distinct-tdp-43-and-tau-pathologic-patterns-in-aged-hippocampi
#3
Vanessa D Smith, Adam D Bachstetter, Eseosa Ighodaro, Kelly Roberts, Erin L Abner, David W Fardo, Peter T Nelson
Intracellular proteinaceous aggregates (inclusion bodies) are almost always detectable at autopsy in brains of elderly individuals. Inclusion bodies composed of TDP-43 and tau proteins often coexist in the same brain, and each of these pathologic biomarkers is associated independently with cognitive impairment. However, uncertainties remain about how the presence and neuroanatomical distribution of inclusion bodies correlate with underlying diseases including Alzheimer's disease (AD). To address this knowledge gap, we analyzed data from the University of Kentucky AD Center autopsy series (n = 247); none of the brains had frontotemporal lobar degeneration...
March 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28268246/cerebellar-compartmentation-of-prion-pathogenesis
#4
Audrey Ragagnin, Juliette Ezpeleta, Aurélie Guillemain, François Boudet-Devaud, Anne-Marie Haeberlé, Valérie Demais, Catherine Vidal, Stanislas Demuth, Vincent Béringue, Odile Kellermann, Benoit Schneider, Nancy J Grant, Yannick Bailly
In prion diseases, the brain lesion profile is influenced by the prion "strain" properties, the invasion route to the brain, and still unknown host cell-specific parameters. To gain insight into those endogenous factors, we analyzed the histopathological alterations induced by distinct prion strains in the mouse cerebellum. We show that 22L and ME7 scrapie prion proteins (PrP(22L) , PrP(ME7) ), but not bovine spongiform encephalopathy PrP(6PB1) , accumulate in a reproducible parasagittal banding pattern in the cerebellar cortex of infected mice...
March 7, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28236350/review-of-xanthomatous-lesions-of-the-sella
#5
B K Kleinschmidt-DeMasters, Kevin O Lillehei, Todd C Hankinson
Xanthomatous lesions of the sellar region have traditionally been divided into two separate categories, xanthomatous hypophysitis (XH) and xanthogranuloma (XG) of the sellar region. The seminal paper on XH, a condition typified by foamy histiocytes and lymphoplasmacytic infiltrates in the pituitary gland/sellar region, but usually little or no hemosiderin pigment, detailed 3 patients. However, most reports since that time have been single cases, making understanding of the entity difficult. In contrast, the seminal report on XG, characterized by sellar region cholesterol clefts, lymphoplasmacytic infiltrates, marked hemosiderin deposits, fibrosis, multinucleated giant cells around cholesterol clefts, eosinophilic granular necrotic debris, and accumulation of macrophages, included 37 patients, allowing more insights into etiology...
February 25, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28236347/mini-symposium-adamantinomatous-craniopharyngioma-and-xanthomatous-lesions-of-the-sella
#6
Todd C Hankinson, B K Kleinschmidt-DeMasters
No abstract text is available yet for this article.
February 25, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28236345/unusual-tau-pathology-of-the-cerebellum-in-patients-with-amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex-from-the-kii-peninsula-japan
#7
LETTER
Satoru Morimoto, Hiroyuki Hatsuta, Yasumasa Kokubo, Yuta Nakano, Masato Hasegawa, Misao Yoneda, Yoshifumi Hirokawa, Shigeki Kuzuhara, Taizo Shiraishi, Shigeo Murayama
No abstract text is available yet for this article.
February 25, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28213912/diagnostic-red-flags-steroid-treated-malignant-cns-lymphoma-mimicking-autoimmune-inflammatory-demyelination
#8
Alonso Barrantes-Freer, Aylin Sophie Engel, Odir Antonio Rodríguez-Villagra, Anne Winkler, Markus Bergmann, Christian Mawrin, Tania Kuempfel, Hannah Pellkofer, Imke Metz, Annalen Bleckmann, Silvia Hernández-Durán, Sven Schippling, Elisabeth J Rushing, Stephan Frank, Markus Glatzel, Jakob Matschke, Christian Hartmann, Guido Reifenberger, Wolf Müller, Hans-Ulrich Schildhaus, Wolfgang Brück, Christine Stadelmann
The presence of inflammation and demyelination in a central nervous system (CNS) biopsy points towards a limited, yet heterogeneous group of pathologies, of which multiple sclerosis (MS) represents one of the principal considerations. Inflammatory demyelination has also been reported in patients with clinically suspected primary central nervous system lymphoma (PCNSL), especially when steroids had been administered prior to biopsy acquisition. The histopathological changes induced by corticosteroid treatment can range from mild reduction to complete disappearance of lymphoma cells...
February 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28181327/hereditary-spastic-paraplegia-type-8-neuropathological-findings
#9
LETTER
Caroline Pehrson, Jens Michael Hertz, Martin Wirenfeldt, Egon Stenager, Lene Wermuth, Bjarne Winther Kristensen
No abstract text is available yet for this article.
February 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28181325/recurrent-copy-number-alterations-in-low-grade-and-anaplastic-pleomorphic-xanthoastrocytoma-with-and-without-braf-v600e-mutation
#10
Rachael A Vaubel, Alissa A Caron, Seiji Yamada, Paul A Decker, Jeanette E Eckel Passow, Fausto J Rodriguez, Amulya A Nageswara Rao, Daniel Lachance, Ian Parney, Robert Jenkins, Caterina Giannini
Pleomorphic xanthoastrocytoma (PXA) is a rare localized glioma characterized by frequent BRAF V600E mutation and CDKN2A/B deletion. We explored the association of copy-number variants (CNVs) with BRAF mutations, tumor grade, and patient survival in a cohort of 41 PXA patients using OncoScan chromosomal microarray. Primary resection specimens were available in 38 cases, including 24 PXA and 14 anaplastic PXA (A-PXA), 23 BRAF V600E mutant tumors (61%). CNVs were identified in all cases and most frequently involved chromosome 9 with homozygous CDKN2A/B deletion (n=33, 87%), a higher proportion than previously detected by comparative genomic hybridization (50-60%) (37)...
February 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28160367/cerebral-amyloidoma-is-characterized-by-b-cell-clonality-and-a-stable-clinical-course
#11
Katharina Heß, Jan Purrucker, Ute Hegenbart, Benjamin Brokinkel, Rouven Berndt, Kathy Keyvani, Camelia M Monoranu, Mario Löhr, Guido Reifenberger, Christopher Munoz-Bendix, Jörg Kalla, Justus Groß, Uta Schick, Jennifer Kollmer, Wolfram Klapper, Christoph Röcken, Martin Hasselblatt, Werner Paulus
Amyloidomas are rare amyloid-containing lesions, which may also occur in the central nervous system. Etiology, pathogenesis and clinical course are poorly understood. To gain more insight into the biology of cerebral amyloidoma, we aimed to characterize its histopathological, molecular and clinical features in a retrospective series of seven patients. FFPE tissue specimens were examined using immunohistochemistry, chromogenic in situ hybridization (CISH) for light chains kappa and lambda as well as an IgH gene clonality analysis...
February 4, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28117910/oligodendroglial-fibroblast-growth-factor-receptor-1-gene-targeting-protects-mice-from-experimental-autoimmune-encephalomyelitis-through-erk-akt-phosphorylation
#12
Ranjithkumar Rajendran, Mario Giraldo Velásquez, Christine Stadelmann, Martin Berghoff
Fibroblast growth factors (FGFs) exert diverse biological effects by binding and activation of specific fibroblast growth factor receptors (FGFRs). FGFs and FGFRs have been implicated in demyelinating pathologies including multiple sclerosis. In vitro activation of the FGF2/FGFR1 pathway results in downregulation of myelin proteins. FGF1, 2 and 9 have been shown to be involved in the pathology of multiple sclerosis. Recent studies on the function of oligodendroglial FGFR1 in a model of toxic demyelination showed that deletion of FGFR1 led to increased remyelination and preservation of axonal density and an increased number of mature oligodendrocytes...
January 24, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#13
REVIEW
David M A Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28035716/integrated-molecular-landscape-of-amyotrophic-lateral-sclerosis-provides-insights-into-disease-etiology
#14
C J H M Klemann, J E Visser, L Van Den Bosch, G J M Martens, G Poelmans
Amyotrophic lateral sclerosis (ALS) is a severe, progressive and ultimately fatal motor neuron disease caused by a combination of genetic and environmental factors, but its underlying mechanisms are largely unknown. In order to gain insight into the etiology of ALS, we here conducted genetic network and literature analyses of the top-ranked findings from six genome-wide association studies of sporadic ALS (involving 3589 cases and 8577 controls) as well as genes implicated in ALS etiology through other evidence, including familial ALS candidate gene association studies...
December 30, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28032389/bithalamic-gliomas-may-be-molecularly-distinct-from-their-unilateral-high-grade-counterparts
#15
Alberto Broniscer, Scott N Hwang, Omar Chamdine, Tong Lin, Stanley Pounds, Arzu Onar-Thomas, Lei Chi, Sheila Shurtleff, Sariah Allen, Amar Gajjar, Paul Northcott, Brent A Orr
Bithalamic gliomas are rare cancers diagnosed based on poorly defined radiologic criteria. Infiltrative astrocytomas account for most cases. While some previous studies reported dismal outcomes for patients with bithalamic gliomas irrespective of therapy and histologic grade, others described better prognoses even without anticancer therapy. Little is known about their molecular characteristics. We reviewed clinical, radiologic, and histologic features of patients with bithalamic gliomas treated at our institution over 15 years...
December 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28019685/tauopathy-with-hippocampal-4-repeat-tau-immunoreactive-spherical-inclusions-a-report-of-three-cases
#16
Gabor G Kovacs, Linda K Kwong, Murray Grossman, David J Irwin, Edward B Lee, John L Robinson, Eunran Suh, Vivianna M Van Deerlin, Virginia M Lee, John Q Trojanowski
Tauopathies are a major group of neurodegenerative proteinopathies characterized by the accumulation of abnormal and hyperphosphorylated tau proteins in the brain. Tau pathology is characterized as 3R (repeat) or 4R predominant or mixed 3R and 4R type. Here we report three cases lacking mutations in the microtubule associated protein tau (MAPT) gene with unusual tau pathology. The age at onset and duration of illness, respectively, were 63 and 20 years (male), 67 and 5 years (female) and 72 and 20 years (female)...
December 26, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28217958/65-year-old-female-with-cerebellopontine-angle-lesion
#17
Reena Baweja, Kesava Reddy, Anthony Whitton, John Provias, Boleslaw Lach
No abstract text is available yet for this article.
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/28217956/child-with-radiologically-recurrent-thalamic-tumor
#18
Tafadzwa Mandiwanza, Chandrasekaran Kaliaperumal, Linda Mulligan, Elizabeth Ryan, Seamus Looby, John Caird, Francesca Brett
No abstract text is available yet for this article.
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/28217955/a-49-year-old-female-with-multiple-extra-axial-tumors
#19
Marian C Neidert, Henning Leske, Karl Frontzek, Beata Bode, David Capper, Luca Regli, Elisabeth J Rushing
No abstract text is available yet for this article.
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/28217954/a-47-year-old-female-with-a-destructive-sellar-mass
#20
Drew Pratt, Gautam U Mehta, Hao-Wei Wang, Prashant Chittiboina, Martha Quezado
No abstract text is available yet for this article.
March 2017: Brain Pathology
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