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Brain Pathology

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https://www.readbyqxmd.com/read/27893178/comprehensive-genetic-characterization-of-rosette-forming-glioneuronal-tumors-independent-component-analysis-by-tissue-microdissection
#1
Yohei Kitamura, Takashi Komori, Makoto Shibuya, Kentaro Ohara, Yuko Saito, Saeko Hayashi, Aya Sasaki, Eiji Nakagawa, Ryosuke Tomio, Akiyoshi Kakita, Masashi Nakatsukasa, Kazunari Yoshida, Hikaru Sasaki
A rosette-forming glioneuronal tumor (RGNT) is a rare, mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection...
November 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27880990/neurodegeneration-and-nlrp3-inflammasome-expression-in-the-anterior-thalamus-of-sod1-g93a-als-mice
#2
Berthold Debye, Lena Schmülling, Lepu Zhou, Gabriele Rune, Cordian Beyer, Sonja Johann
Nowadays, Amyotrophic lateral sclerosis (ALS) is considered as a multisystem disorder, characterized by a primary degeneration of motor neurons as well as neuropathological changes in non-motor regions. Neurodegeneration in subcortical areas, such as the thalamus, are believed to contribute to cognitive and behavioural abnormalities in ALS patients. In the present study, we investigated neurodegenerative changes including neuronal loss and glia pathology in the anterodorsal thalamic nucleus (AD) of SOD1(G93A) mice, a widely used animal model for ALS...
November 23, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27879019/screening-for-alk-abnormalities-in-central-nervous-system-metastases-of-non-small-cell-lung-cancer-alk-abnormalities-in-cns-metastases-of-nsclc
#3
Marcin Nicoś, Bożena Jarosz, Paweł Krawczyk, Kamila Wojas-Krawczyk, Tomasz Kucharczyk, Marek Sawicki, Juliusz Pankowski, Tomasz Trojanowski, Janusz Milanowski
Anaplastic lymphoma kinase (ALK) gene rearrangement was reported in 3-7% of primary non-small-cell lung cancer (NSCLC) and its presence is commonly associated with adenocarcinoma (AD) type and non-smoking history. ALK tyrosine kinase inhibitors (TKIs) such as crizotinib, alectinib and ceritinib showed efficiency in patients with primary NSCLC harboring ALK gene rearrangement. Moreover, response to ALK TKIs was observed in central nervous system (CNS) metastatic lesions of NSCLC. However, there are no reports concerning the frequency of ALK rearrangement in CNS metastases...
November 23, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27875637/ambra1-a-novel-%C3%AE-synuclein-binding-protein-is-implicated-in-the-pathogenesis-of-multiple-system-atrophy
#4
Yasuo Miki, Kunikazu Tanji, Fumiaki Mori, Yota Tatara, Jun Utsumi, Hidenao Sasaki, Akiyoshi Kakita, Hitoshi Takahashi, Gian Maria Fimia, Koichi Wakabayashi
The accumulation of abnormal α-synuclein is the major histopathological feature of Lewy body disease and multiple system atrophy (MSA), which are referred to as synucleinopathies. Although the pathomechanisms underlying synucleinopathies are still unknown, mounting evidence indicates that cytoplasmic degradation systems, such as the autophagy-lysosome and proteasome pathways, are strongly involved in their pathogenesis. Autophagy is tightly regulated by several upstream proteins including UNC-51-like kinase 1/2, beclin1, vacuolar protein sorting-associated protein 34, and autophagy/beclin1 regulator 1 (AMBRA1)...
November 22, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27864854/igg4-related-hypophysitis-is-highly-prevalent-among-cases-of-histologically-confirmed-hypophysitis
#5
Christian Bernreuther, Christopher Illies, Jörg Flitsch, Michael Buchfelder, Rolf Buslei, Markus Glatzel, Wolfgang Saeger
IgG4-related disease is an immune-mediated disease with manifestations in most organ systems among them the pituitary gland. To date, few cases of histologically confirmed cases of IgG-related hypophysitis have been reported. The aim of this study was to retrospectively determine the prevalence of IgG4-related hypophysitis among cases previously diagnosed as primary hypophysitis (lymphocytic hypophysitis, granulomatous hypophysitis, and hypophysitis not otherwise specified). Histological and immunohistochemical analysis revealed that 12 of 29 cases (41...
November 19, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27864848/age-related-small-vessel-disease-a-potential-contributor-to-neurodegeneration-in-multiple-sclerosis
#6
REVIEW
Ruth Geraldes, Margaret M Esiri, Gabriele C DeLuca, Jacqueline Palace
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system wherein, after an initial phase of transient neurological defects, slow neurological deterioration due to progressive neuronal loss ensues. Age is a major determinant of MS progression onset and disability. Over the past years, several mechanisms have been proposed to explain the key drivers of neurodegeneration and disability accumulation in MS. However, the effect of commonly encountered age-related cerebral vessel disease, namely small vessel disease (SVD), has been largely neglected and constitutes the aim of this review...
November 19, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27859886/collateral-blood-flow-in-different-cerebrovascular-hierarchy-provides-endogenous-protection-in-cerebral-ischemia
#7
Chuanming Luo, Fengyin Liang, Huixia Ren, Xiaoli Yao, Qiang Liu, Mingyue Li, Dajiang Qin, Ti-Fei Yuan, Zhong Pei, Huanxing Su
Collateral blood flow as vascular adaptions to focal cerebral ischemia is well recognized. However, few studies directly investigate the dynamics of collateral vessel recruitment in vivo and little is known about the effect of collateral blood flow in different cerebrovascular hierarchy on the neuropathology after focal ischemic stroke. Here, we report that collateral blood flow is critically involved in blood vessel compensations following regional ischemia. We occluded a pial arteriole using femtosecond laser ablating under the intact thinned skull and documented the changes of collateral flow around the surface communication network and between the surface communication network and subsurface microcirculation network using in vivo two photon microscopy imaging...
November 15, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27862631/microglia-show-altered-morphology-and-reduced-arborisation-in-human-brain-during-aging-and-alzheimer-s-disease
#8
Danielle S Davies, Jolande Ma, Thuvarahan Jegathees, And Claire Goldsbury
Changes in microglia function are involved in Alzheimer's disease (AD) for which ageing is the major risk factor. We evaluated microglial cell process morphologies and their grey matter coverage (arborized area) during ageing and in the presence and absence of AD pathology in autopsied human neocortex. Microglial cell processes were reduced in length, showed less branching and reduced arborized area with aging (case range 52-98 yrs). This occurred during normal ageing and without microglia dystrophy or changes in cell density...
November 14, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27792289/multiple-sclerosis-animal-models-a-clinical-and-histopathological-perspective
#9
REVIEW
Markus Kipp, Stella Nyamoya, Tanja Hochstrasser, Sandra Amor
There is a broad consensus that multiple sclerosis (MS) represents more than an inflammatory disease: it harbors several characteristic aspects of a classical neurodegenerative disorder, i.e. damage to axons, synapses and nerve cell bodies. While we are equipped with appropriate therapeutic options to prevent immune-cell driven relapses, effective therapeutic options to prevent the progressing neurodegeneration are still missing. In this review article, we will discuss to what extent pathology of the progressive disease stage can be modeled in MS animal models...
October 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27790792/als-associated-endoplasmic-reticulum-proteins-in-denervated-skeletal-muscle-implications-for-motor-neuron-disease-pathology
#10
C M Jesse, E Bushuven, P Tripathi, A Chandrasekar, C M Simon, C Drepper, A Yamoah, A Dreser, I Katona, S Johann, C Beyer, S Wagner, M Grond, S Nikolin, J Anink, D Troost, M Sendtner, A Goswami, J Weis
Alpha-motoneurons and muscle fibers are structurally and functionally interdependent. Both cell types particularly rely on endoplasmic reticulum (ER/SR) functions. Mutations of the ER proteins VAPB, SigR1 and HSP27 lead to hereditary motor neuron diseases (MNDs). Here, we determined the expression profile and localization of these ER proteins/chaperons by immunohistochemistry and immunoblotting in biopsy and autopsy muscle tissue of patients with amyotrophic lateral sclerosis (ALS) and other neurogenic muscular atrophies (NMAs) and compared these patterns to mouse models of neurogenic muscular atrophy...
October 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27750396/impaired-oligodendroglial-turnover-is-associated-with-myelin-pathology-in-focal-cortical-dysplasia-and-tuberous-sclerosis-complex
#11
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27706868/synaptic-pathology-in-the-cerebellar-dentate-nucleus-in-chronic-multiple-sclerosis
#12
Monika Albert, Alonso Barrantes-Freer, Melanie Lohrberg, Jack P Antel, John W Prineas, Miklós Palkovits, Joachim R Wolff, Wolfgang Brück, Christine Stadelmann
In multiple sclerosis, cerebellar symptoms are associated with clinical impairment and an increased likelihood of progressive course. Cortical atrophy and synaptic dysfunction play a prominent role in cerebellar pathology and although the dentate nucleus is a predilection site for lesion development, structural synaptic changes in this region remain largely unexplored. Moreover, the mechanisms leading to synaptic dysfunction have not yet been investigated at an ultrastructural level in multiple sclerosis. Here we report on synaptic changes of dentate nuclei in post-mortem cerebella of 16 multiple sclerosis patients and eight controls at the histological level as well as an electron microscopy evaluation of afferent synapses of the cerebellar dentate and pontine nuclei of one multiple sclerosis patient and one control...
October 5, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27529406/ftdp-17-with-pick-body-like-inclusions-associated-with-a-novel-tau-mutation-p-e372g
#13
Pawel Tacik, Michael A DeTure, Yari Carlomagno, Wen-Lang Lin, Melissa E Murray, Matthew C Baker, Keith A Josephs, Bradley F Boeve, Zbigniew K Wszolek, Neill R Graff-Radford, Joseph E Parisi, Leonard Petrucelli, Rosa Rademakers, Richard S Isaacson, Kenneth M Heilman, Ronald C Petersen, Dennis W Dickson, Naomi Kouri
Mutations in microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Here, we describe a patient with FTDP-17 and a novel missense mutation in exon 13 of MAPT, p.E372G. We compare clinicopathologic features of this patient to two previously unreported patients with another exon 13 mutation, p.G389R. The patient with the p.E372G mutation was a 40-year-old man with behavioral variant frontotemporal dementia (bvFTD), who subsequently developed agrammatic speech and parkinsonism...
October 5, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27647828/brain-pathology-case-of-the-month-july-2016-case-1-36-year-old-man-with-parietal-scalp-mass
#14
Arnault Cazorla, Alain Czorny, Aalain Cangemi, Gabriel Viennet
No abstract text is available yet for this article.
September 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27647576/brain-pathology-case-of-the-month-august-2016-case-2-a-71-year-old-man-presenting-with-headache-blurry-vision-and-alexia-without-agraphia
#15
Patrick J Cimino, Richard J Perrin
No abstract text is available yet for this article.
September 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27647520/brain-pathology-case-of-the-month-august-2016-case-1-a-37-year-old-pregnant-female-with-multifocal-brain-lesions
#16
Danijela Oštrić, Marija Todosijević, Anja Jeričević, Saša Šega Jazbec, Mara Popović
No abstract text is available yet for this article.
September 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27647455/brain-pathology-case-of-the-month-july-2016-case-2-a-49-year-old-man-with-progressive-cranial-neuropathies
#17
Jiancong Liang, Jenny Libien, Yuetsu Tanaka, Constantine A Axiotis, Charles Shao, Jinli Liu
No abstract text is available yet for this article.
September 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27608415/genetic-alterations-related-to-braf-fgfr-genes-and-dysregulated-mapk-erk-mtor-signaling-in-adult-pilocytic-astrocytoma
#18
Pankaj Pathak, Anupam Kumar, Prerana Jha, Suvendu Purkait, Mohammed Faruq, Ashish Suri, Vaishali Suri, Mehar C Sharma, Chitra Sarkar
Pilocytic astrocytomas occur rarely in adults and show aggressive tumor behavior. However, their underlying molecular-genetic events are largely uncharacterized. Hence, we studied 59 adult pilocytic astrocytoma (APA) cases of classical histology (MIB-1 LI:1-5%). Analysis of BRAF alterations using qRT-PCR, confirmed KIAA1549-BRAF fusion in 11(19%) and BRAF-gain in 2(3.4%) cases. BRAF-V600E mutation was noted in 1(1.7%) case by sequencing. FGFR1-mutation and FGFR-TKD duplication were seen in 7/59(11.9%) and 3/59(5%) cases respectively...
September 8, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27608278/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-and-nasu-hakola-disease-lesion-staging-and-dynamic-changes-of-axons-and-microglial-subsets
#19
Kiyomitsu Oyanagi, Michiaki Kinoshita, Emi Suzuki-Kouyana, Teruhiko Inoue, Asa Nakahara, Mika Tokiwai, Nobutaka Arai, Jun-Ichi Satoh, Naoya Aoki, Kenji Jinnai, Ikuru Yazawa, Kimihito Arai, Kenji Ishihara, Mitsuru Kawamura, Keisuke Ishizawa, Kazuko Hasegawa, Saburo Yagisita, Naoji Amano, Kunihiro Yoshida, Seishi Terada, Mari Yoshida, Haruhiko Akiyama, Yoshio Mitsuyama, Shu-Ichi Ikeda
The brains of 10 Japanese patients with adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) and eight Japanese patients with Nasu-Hakola disease (N-HD) and five age-matched Japanese controls were examined neuropathologically with special reference to lesion staging and dynamic changes of microglial subsets. In both diseases, the pathognomonic neuropathological features included spherically swollen axons (spheroids and globules), axon loss and changes of microglia in the white matter...
September 8, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27891732/acknowledgement-of-reviewers-2015-16
#20
(no author information available yet)
No abstract text is available yet for this article.
November 2016: Brain Pathology
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