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Brain Pathology

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https://www.readbyqxmd.com/read/29027761/oxidative-stress-and-mitochondrial-dynamics-malfunction-are-linked-in-pelizaeus-merzbacher-disease
#1
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea-Robles, Patrizia Bianchi, Jone López-Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs-Barriere, Céline Guéret-Gonthier, Marie-Noëlle Bonnet-Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug-Tanguy, Aurora Pujol
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the proteolipid protein gene PLP1, which encodes the two major myelin proteins of the central nervous system, PLP and its spliced isoform DM20, in oligodendrocytes. Large duplications including the entire PLP1 gene are the most frequent causative mutation leading to the classical form of PMD...
October 13, 2017: Brain Pathology
https://www.readbyqxmd.com/read/29027727/downregulated-apoptosis-and-autophagy-after-anti-a%C3%AE-immunotherapy-in-alzheimer-s-disease
#2
Claire Paquet, James Ar Nicoll, Seth Love, François Mouton-Liger, Clive Holmes, Jacques Hugon, Delphine Boche
Aβ immunisation of Alzheimer's disease (AD) patients in the AN1792 (Elan Pharmaceuticals) trial caused Aβ removal and a decreased density of neurons in the cerebral cortex. As preservation of neurons may be a critical determinant of outcome after Aβ immunisation, we have assessed the impact of previous Aβ immunisation on the expression of a range of apoptotic proteins in post-mortem human brain tissue. Cortex from 13 AD patients immunised with AN1792 (iAD) and from 27 non-immunised AD (cAD) cases was immunolabelled for pro-apoptotic proteins implicated in AD pathophysiology: phosphorylated c-Jun N-terminal kinase (pJNK), activated caspase3 (a-casp3), phosphorylated GSK3β on tyrosine 216 (GSK3βtyr216 ), p53 and Cdk5/p35...
October 13, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28990708/astroblastoma-a-distinct-tumor-entity-characterized-by-alterations-of-the-x-chromosome-and-mn1-rearrangement
#3
Takanori Hirose, Sumihito Nobusawa, Kazuhiko Sugiyama, Vishwa J Amatya, Naomi Fujimoto, Atsushi Sasaki, Yoshiki Mikami, Akiyoshi Kakita, Shinya Tanaka, Hideaki Yokoo
Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14.5 years, ranging from 5 to 60 years, and seven of the patients were female. All tumors arose in the cerebral hemisphere and radiologically appeared to be well-bordered, nodular tumors often associated with cystic areas and contrast-enhancement...
October 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28990704/epithelioid-glioblastomas-stratify-into-established-diagnostic-subsets-upon-integrated-molecular-analysis
#4
Andrey Korshunov, Lukas Chavez, Tanvi Sharma, Marina Ryzhova, Daniel Schrimpf, Damian Stichel, David Capper, Dominik Sturm, Marcel Kool, Antje Habel, Bette K Kleinschmidt-DeMasters, Marc Rosenblum, Oksana Absalyamova, Andrey Golanov, Peter Lichter, Stefan M Pfister, David T W Jones, Arie Perry, Andreas von Deimling
Epithelioid glioblastoma (eGBM) is a newly defined and rare GBM variant in the current WHO 2016 classification. BRAF V600E mutation is overrepresented in these tumors and there is known some morphological overlap with anaplastic epithelioid PXA (ePXA). In order to further elucidate this diagnostic category, we molecularly characterized 64 pediatric and adult examples initially diagnosed as "eGBM". Tumors were analyzed using array based methylation and direct sequencing of the BRAF and TERT genes. Our results demonstrated considerable molecular and clinical heterogeneity among eGBM cohort...
October 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28987033/trem2-expression-in-the-human-brain-a-marker-of-monocyte-recruitment
#5
Marie Fahrenhold, Sonja Rakic, John Classey, Carol Brayne, Paul G Ince, James A R Nicoll, Delphine Boche
Mutation in the triggering receptor expressed on myeloid cells (TREM) 2 gene has been identified as a risk factor for several neurodegenerative diseases including Alzheimer's disease (AD). Experimental studies using animal models of AD have highlighted a number of functions associated with TREM2 and its expression by microglial cells. It has therefore been assumed that this is also the case in humans. However, there is very limited information concerning the cellular expression of TREM2 in the human brain. As part of investigations of microglia using post-mortem resources provided by the Medical Research Council Cognitive Function and Ageing Studies (MRC-CFAS), we immunostained the cerebral cortex of 299 participants for TREM2 using the Sigma antibody HPA010917 and compared with the macrophage/microglial markers Iba1 and CD68...
October 7, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28976058/diffuse-gliomas-with-fgfr3-tacc3-fusion-have-characteristic-histopathological-and-molecular-features
#6
Franck Bielle, Anna-Luisa Di Stefano, David Meyronnet, Alberto Picca, Chiara Villa, Michèle Bernier, Yohann Schmitt, Marine Giry, Audrey Rousseau, Dominique Figarella-Branger, Claude-Alain Maurage, Emmanuelle Uro-Coste, Anna Lasorella, Antonio Iavarone, Marc Sanson, Karima Mokhtari
Adult glioblastomas, IDH-wildtype represent a heterogeneous group of diseases. They are resistant to conventional treatment by concomitant radiochemotherapy and carry a dismal prognosis. The discovery of oncogenic gene fusions in these tumors has led to prospective targeted treatments, but identification of these rare alterations in practice is challenging. Here, we report a series of 30 adult diffuse gliomas with an in frame FGFR3-TACC3 oncogenic fusion (n=27 WHO grade IV and n=3 WHO grade II) as well as their histological and molecular features...
October 4, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28960623/multimodal-molecular-analysis-of-astroblastoma-enables-reclassification-of-most-cases-into-more-specific-molecular-entities
#7
Matthew D Wood, Tarik Tihan, Arie J Perry, Geeta Chacko, Clinton Turner, Cunfeng Pu, Christopher Payne, Alexander Yu, Serguei Bannykh, David A Solomon
Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1)...
September 28, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28960595/spinal-lewy-body-pathology-in-older-adults-without-an-antemortem-diagnosis-of-parkinson-s-disease
#8
Aron S Buchman, Sukriti Nag, Sue E Leurgans, Jared Miller, Veronique G J M VanderHorst, David A Bennett, Julie A Schneider
OBJECTIVE: To test the hypothesis that Lewy body pathology (LBs) is present in the spinal cord of older community-dwelling adults without a clinical diagnosis of Parkinson's disease (PD). METHODS: We studied 162 prospective autopsies from older adults with PD (N=6) and without PD (N=156). We documented the presence of LBs in cerebrum and brainstem structures from each of the 6 regions used for Braak PD staging and 4 spinal cord levels (C5/6, T7, L4/5 and S4/5). Parkinsonism proximate to death was based on a previously validated measure present if 2 or more of the 4 signs of parkinsonism were present based on a modified version of the Unified Parkinson's Disease Rating Scale (UPDRS)...
September 28, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28960571/neuronal-rho-gtpase-rac1-elimination-confers-neuroprotection-in-a-mice-model-of-permanent-ischemic-stroke
#9
Cansu Karabiyik, Rui Fernandes, Francisco Rosário Figueiredo, Renato Socodato, Cord Brakebusch, Kate Lykke Lambertsen, João Bettencourt Relvas, Sofia Duque Santos
The Rho GTPase Rac1 is a multifunctional protein involved in distinct pathways ranging from development to pathology. The aim of the present study was to unravel the contribution of neuronal Rac1 in regulating the response to brain injury induced by permanent focal cerebral ischemia (pMCAO). Our results show that pMCAO significantly increased total Rac1 levels in wild type mice, mainly through rising nuclear Rac1, while a reduction in Rac1 activation was observed. Such changes preceded cell death induced by excitotoxic stress...
September 28, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28960710/optineurin-pathology-in-the-spinal-cord-of-amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex-patients-in-kii-peninsula-japan
#10
LETTER
Satoru Morimoto, Hiroyuki Hatsuta, Rie Motoyama, Yasumasa Kokubo, Hiroyuki Ishiura, Shoji Tsuji, Shigeki Kuzuhara, Shigeo Murayama
No abstract text is available yet for this article.
September 27, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28921714/fetal-microchimerism-in-human-brain-tumors
#11
Lauren Broestl, Joshua B Rubin, Sonika Dahiya
Sex differences in cancer incidence and survival, including central nervous system tumors, are well documented. Multiple mechanisms contribute to sex differences in health and disease. Recently, the presence of fetal-in-maternal microchimeric cells has been shown to have prognostic significance in breast and colorectal cancers. The frequency and potential role of these cells has not been investigated in brain tumors. We therefore selected two common primary adult brain tumors for this purpose: meningioma, which is sex hormone responsive and has a higher incidence in women, and glioblastoma, which is sex hormone independent and occurs more commonly in men...
September 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28833756/multinodular-and-vacuolating-neuronal-tumors-in-epilepsy-dysplasia-or-neoplasia
#12
Maria Thom, Joan Liu, Anika Bongaarts, Roy J Reinten, Beatrice Paradiso, Hans Rolf Jäger, Cheryl Reeves, Alyma Somani, Shu An, Derek Marsdon, Andrew McEvoy, Anna Miserocchi, Lewis Thorne, Fay Newman, Sorin Bucur, Mrinalini Honavar, Tom Jacques, Eleonora Aronica
Multinodular and vacuolating neuronal tumor (MVNT) is a new pattern of neuronal tumour included in the recently revised WHO 2016 classification of tumors of the CNS. There are 15 reports in the literature to date. They are typically associated with late onset epilepsy and a neoplastic vs. malformative biology has been questioned. We present a series of ten cases and compare their pathological and genetic features to better characterized epilepsy-associated malformations including focal cortical dysplasia type II (FCDII) and low-grade epilepsy-associated tumors (LEAT)...
August 19, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28833898/hippocampal-sclerosis-hippocampal-neuron-loss-patterns-and-tdp-43-in-the-aged-population
#13
Suvi R K Hokkanen, Sally Hunter, Tuomo M Polvikoski, Hannah A D Keage, Thais Minett, Fiona E Matthews, Carol Brayne
Hippocampal neuron loss is a common neuropathological feature in old age with various underlying etiologies. Hippocampal sclerosis of aging (HS-Aging) is neuropathologically characterized by severe CA1 neuronal loss and frequent presence of transactive response DNA-binding protein of 43 kDa (TDP-43) aggregations. Its etiology is unclear and currently no standardized approaches to measure HS-Aging exist. We developed a semi-quantitative protocol, which captures various hippocampal neuron loss patterns, and compared their occurrence in the context of HS-Aging, TDP-43, vascular and tau pathology in 672 brains (TDP-43 staining n = 642/672, 96%) donated for the population-based Cambridge City over-75s Cohort and the Cognitive Function and Ageing Study...
August 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28752602/alterations-in-the-steroid-biosynthetic-pathways-in-the-human-prefrontal-cortex-in-mood-disorders-a-post-mortem-study
#14
Xin-Rui Qi, Sabina Luchetti, Ronald W H Verwer, Arja A Sluiter, Matthew R J Mason, Jiang-Ning Zhou, Dick F Swaab
Altered levels of steroids have been reported in the brain, cerebral spinal fluid and plasma of patients with mood disorders. Neuroimaging studies have reported both functional and structural alterations in mood disorders, for instance in the anterior cingulate cortex (ACC) and dorsolateral prefrontal cortex (DLPFC). In order to determine whether the endogenous production of steroids is altered in the ACC and DLPFC of patients with major depressive disorder (MDD) or bipolar disorder (BPD), quantitative real-time PCR was performed to detect mRNA expression level of key enzymes in the steroid biosynthetic pathways...
July 27, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805008/erratum
#15
(no author information available yet)
No abstract text is available yet for this article.
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805007/a-42-year-old-male-with-diabetes-insipidus
#16
I Bremer Pais, C Bernreuther, T Minnemann, W Saeger, C Hagel, C Iking-Konert, J Aberle, J Flitsch
No abstract text is available yet for this article.
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805006/an-57-year-old-female-with-sudden-onset-of-transient-right-homonymous-hemianopsia
#17
Tara Jayde Nail, Julio M Araque, John Vender, Amyn M Rojiani
No abstract text is available yet for this article.
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805005/a-42-year-old-man-with-aids-and-multiple-incomplete-ring-enhancing-lesions
#18
Peter Kang, Robert E Schmidt, Sonika Dahiya, Arun S Varadhachary
No abstract text is available yet for this article.
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805003/protein-astrogliopathies-in-human-neurodegenerative-diseases-and-aging
#19
Gabor G Kovacs, Virginia M Lee, John Q Trojanowski
Neurodegenerative diseases are characterized by progressive dysfunction and loss of neurons associated with depositions of pathologically altered proteins showing hierarchical involvement of brain regions. The role of astrocytes in the pathogenesis of neurodegenerative diseases is explored as contributors to neuronal degeneration or neuroprotection pathways, and also as potential mediators of the transcellular spreading of disease-associated proteins. Protein astrogliopathy (PAG), including deposition of amyloid-β, prion protein, tau, α-synuclein, and very rarely transactive response DNA-binding protein 43 (TDP-43) is not unprecedented or unusual in neurodegenerative diseases...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28805002/stratification-of-astrocytes-in-healthy-and-diseased-brain
#20
Alexei Verkhratsky, Robert Zorec, Vladimir Parpura
Astrocytes, a subtype of glial cells, come in variety of forms and functions. However, overarching role of these cell is in the homeostasis of the brain, be that regulation of ions, neurotransmitters, metabolism or neuronal synaptic networks. Loss of homeostasis represents the underlying cause of all brain disorders. Thus, astrocytes are likely involved in most if not all of the brain pathologies. We tabulate astroglial homeostatic functions along with pathological condition that arise from dysfunction of these glial cells...
September 2017: Brain Pathology
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