journal
MENU ▼
Read by QxMD icon Read
search

Neuropathology and Applied Neurobiology

journal
https://www.readbyqxmd.com/read/29130549/concomitant-idh-wildtype-glioblastoma-and-idh1-mutant-anaplastic-astrocytoma-in-a-patient-with-constitutional-mismatch-repair-deficiency-syndrome
#1
Francesca Galuppini, Enrico Opocher, Uri Tabori, Isabella Mammi, Melissa Edwards, Britany Campbell, Jacalyn Kelly, Alessandra Viel, Michele Quaia, Francesca Rivieri, Domenico D'Avella, Antonella Arcella, Felice Giangaspero, Matteo Fassan, Marina Paola Gardiman
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predisposition syndrome, presenting with both extracranial and malignant brain tumours that occur in children and/or young adults [1]. The genetic defects underlying this disease are biallelic germline mutations in one of the DNA mismatch repair (MMR) genes leading to a constitutional DNA repair defect that causes a cancer predisposition syndrome with early onset [2]. This mechanism is different from Lynch syndrome (LS) where a heterozygous germline loss-of-function mutation is observed and the patients are more prone to develop colon and genitourinary cancers as adults [1]...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29130506/animal-models-of-acquired-epilepsy-insights-into-mechanisms-of-human-epileptogenesis
#2
Albert J Becker
In many patients who suffer from epilepsies, recurrent epileptic seizures do not start at birth but develop later in life. This holds particularly true for epilepsies with a focal seizure origin including focal cortical dysplasias (FCDs) and temporal lobe epilepsy (TLE). TLE most frequently has its seizure onset in the hippocampal formation. Hippocampal biopsies of pharmacoresistant TLE patients undergoing epilepsy surgery for seizure control most frequently reveal the damage pattern of hippocampal sclerosis, i...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29086434/myoblots-dystrophin-quantification-by-in-cell-western-assay-for-a-streamlined-development-of-dmd-treatments
#3
Estíbaliz Ruiz-Del-Yerro, Iker Garcia-Jimenez, Kamel Mamchaoui, Virginia Arechavala-Gomeza
AIMS: New therapies for neuromuscular disorders are often mutation-specific and require to be studied in patient's cell cultures. In Duchenne muscular dystrophy (DMD) dystrophin restoration drugs are being developed but, as muscle cell cultures from DMD patients are scarce and do not grow or differentiate well, only a limited number of candidate drugs are tested. Moreover, dystrophin quantification by western blotting requires a large number of cultured cells; so fewer compounds are as thoroughly screened as is desirable...
October 31, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29053887/low-foxg1-and-high-olig-2-labelling-indices-define-a-prognostically-favorable-subset-in-idh-mutant-gliomas
#4
Sarah Schäfer, Felix Behling, Marco Skardelly, Marilin Koch, Ines Ott, Frank Paulsen, Ghazaleh Tabatabai, Jens Schittenhelm
AIMS: Previous data suggest that expression of transcription factors FoxG1 and Olig-2 can separate hotspot H3F3A-mutant tumors in pediatric glioma. We evaluated their prognostic potential and feasibility for identifying H3F3A-mutant tumors among IDH-mutant/wildtype gliomas. METHODS: Immunohistochemistry of FoxG1/Olig-2 and ATRX in 471 cases of diffuse gliomas and molecular determination of IDH, H3F3A, MGMT and 1p/19 codeletion status. RESULTS: Mean percentage of FoxG1 positive tumor cells increased from 17% in WHO grade II to over 21% in grade III to 37% in grade IV tumors, while mean Olig-2 indices decreased from 29% to 28% to 17% respectively...
October 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29044639/inflammatory-pathology-markers-activated-microglia-and-reactive-astrocytes-in-early-and-late-onset-alzheimer-disease-a-post-mortem-study
#5
Ricardo Taipa, Vitor Ferreira, Paulo Brochado, Andrew Robinson, Inês Reis, Fernanda Marques, David M Mann, Manuel Melo Pires, Nuno Sousa
AIMS: The association between the pathological features of AD and dementia is stronger in younger old persons than in older old persons suggesting that additional factors are involved in the clinical expression of dementia in the oldest old. Cumulative data suggests that neuroinflammation plays a prominent role in Alzheimer's disease (AD) and different studies reported an age-associated dysregulation of the neuroimmune system. Consequently, we sought to characterize the pattern of microglial cell activation and astrogliosis in brain post-mortem tissue of pathologically confirmed cases of early and late onset AD (EOAD and LOAD) and determine their relation to age...
October 17, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28977690/neuroinflammatory-pathways-as-treatment-targets-and-biomarker-candidates-in%C3%A2-epilepsy-emerging-evidence-from-preclinical-and-clinical-studies
#6
Erwin A van Vliet, Eleonora Aronica, Annamaria Vezzani, Teresa Ravizza
Accumulating evidence indicates an important pathophysiological role of brain inflammation in epilepsy. In this review, we will provide an update of specific inflammatory pathways that have been proposed to be crucial in the underlying molecular mechanisms of epilepsy, including the interleukin-1 receptor/toll-like receptor signaling, cyclooxygenase-2, tumor necrosis factor-alpha, complement signaling and chemokines. Furthermore, by drawing on evidence from preclinical and clinical studies we will discuss the potential of these signaling pathways targets for novel therapeutic interventions that control drug-resistant seizures or have disease-modifying effects...
October 4, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28949028/cns-embryonal-tumours-who-2016-and-beyond
#7
Jessica C Pickles, Cynthia Hawkins, Torsten Pietsch, Thomas S Jacques
Embryonal tumours of the CNS present a significant clinical challenge. Many of these neoplasms affect young children, have a very high mortality and therapeutic strategies are often aggressive with poor long-term outcomes. There is a great need to accurately diagnose embryonal tumours, predict their outcome and adapt therapy to the individual patient's risk. For the first time in 2016, the WHO classification took into account molecular characteristics for the diagnosis of CNS tumours. This integration of histological features with genetic information has significantly changed the diagnostic work-up and reporting of tumours of the CNS...
September 26, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28944505/taxonomy-of-cns-tumours-a-series-of-three-short-reviews-on-the-who-2016-classification-and-beyond
#8
EDITORIAL
Pieter Wesseling, Thomas S Jacques
In May 2016, an update of the 4th edition of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System (CNS) was officially released [1]. This revised 4th edition represents a paradigm shift as, for the first time, the definition of multiple CNS tumour entities is now partly based on particular genotypic characteristics. Additionally, compared to the 4th edition (published in 2007), some splitting and lumping of entities occurred because of new insights in the genetic underpinnings of CNS tumours and/or based on more recently published clinico-pathologic studies...
September 25, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28880417/neuropathology-and-behavioural-features-of-transgenic-murine-models-of-alzheimer-s-disease
#9
Kamar E Ameen-Ali, Stephen B Wharton, Julie E Simpson, Paul R Heath, Paul Sharp, Jason Berwick
Our understanding of the underlying biology of Alzheimer's disease (AD) has been steadily progressing; however, this is yet to translate into a successful treatment in humans. The use of transgenic mouse models has helped to develop our understanding of AD, not only in terms of disease pathology, but also with the associated cognitive impairments typical of AD. Plaques and neurofibrillary tangles are often amongst the last pathological changes in AD mouse models, after neuronal loss and gliosis. There is a general consensus that successful treatments need to be applied before the onset of these pathologies and associated cognitive symptoms...
September 7, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28880406/incidental-neuronal-intermediate-filament-inclusion-pathology-unexpected-biopsy-findings-in-a-37-year-old-woman-with-epilepsy
#10
Ellen Gelpi, Cristina Carrato, Laia Grau-López, Juan Luis Becerra, Roser Garcia-Armengol, Anna Massuet, Laura Cervera, Jordi Clarimon, Katrin Beyer, Ramiro Álvarez
We present unexpected neuropathological findings in a 37 year old woman who underwent surgery for removal of an epidermoid cyst. A first brain MRI at the age of 27 years (due to hyperprolactinemia) showed a cystic lesion in the right prepontine region involving the cisterna ambiens with supratentorial extension. The lesion remained stable until she was 32 year, when it increased in size causing partial compression of the parahippocampal gyrus, midbrain peduncle and lateral pons (Fig. 1). One year later, the patient started to present weekly seizures in form of partial focal complex seizures...
September 7, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28626918/marinesco-bodies-and-substantia-nigra-neuron-density-in-parkinson-s-disease
#11
R D Abbott, J S Nelson, G W Ross, J H Uyehara-Lock, C M Tanner, K H Masaki, L J Launer, L R White, H Petrovitch
AIM: Marinesco bodies (MB) are intranuclear inclusions in pigmented neurons of the substantia nigra (SN). While rare in children, frequency increases with normal ageing and is high in Alzheimer's disease, dementia with Lewy bodies and other neurodegenerative disorders. Coinciding with the age-related rise in MB frequency is initiation of cell death among SN neurons. Whether MB have a role in this process is unknown. Our aim is to examine the association of MB with SN neuron density in Parkinson's disease (PD) in the Honolulu-Asia Aging Study...
December 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28386933/novel-conformation-selective-alpha-synuclein-antibodies-raised-against-different-in-vitro-fibril-forms-show-distinct-patterns-of-lewy-pathology-in-parkinson-s-disease
#12
D J Covell, J L Robinson, R S Akhtar, M Grossman, D Weintraub, H M Bucklin, R M Pitkin, D Riddle, A Yousef, J Q Trojanowski, V M-Y Lee
AIMS: The aim of this study was to test the hypothesis that different conformations of misfolded α-synuclein (α-syn) are present in Parkinson's disease (PD) brain. METHODS: Using two previously characterized conformations of α-syn fibrils, we generated new conformation-selective α-syn monoclonal antibodies (mAbs). We then interrogated multiple brain regions in a well-characterized autopsy cohort of PD patients (n = 49) with these mAbs, Syn7015 and Syn9029. RESULTS: Syn7015 detects Lewy bodies (LBs) and Lewy neurites (LNs) formed by pathological α-syn in all brain regions tested, and is particularly sensitive to LNs and small Lewy dots, inclusions believed to form early in the disease...
December 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28901022/in-this-issue-october-2017
#13
(no author information available yet)
No abstract text is available yet for this article.
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28398599/hippocampal-sclerosis-and-mesial-temporal-lobe-epilepsy-in-chorea-acanthocytosis-a-case-with-clinical-pathologic-and-genetic-evaluation
#14
LETTER
K Mente, S A Kim, C Grunseich, M M Hefti, J F Crary, A Danek, B I Karp, R H Walker
No abstract text is available yet for this article.
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28039950/ageing-causes-prominent-neurovascular-dysfunction-associated-with-loss-of-astrocytic-contacts-and-gliosis
#15
J Duncombe, R J Lennen, M A Jansen, I Marshall, J M Wardlaw, K Horsburgh
AIMS: Normal neurovascular coupling, mediated by the fine interplay and communication of cells within the neurovascular unit, is critical for maintaining normal brain activity and cognitive function. This study investigated whether, with advancing age there is disruption of neurovascular coupling and specific cellular components of the neurovascular unit, and whether the effects of increasing amyloid (a key feature of Alzheimer's disease) would exacerbate these changes. METHODS: Wild-type mice, in which amyloid deposition is absent, were compared to transgenic amyloid precursor protein (APP) littermates (TgSwDI) which develop age-dependent increases in amyloid...
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27783888/association-of-cortical-microinfarcts-and-cerebral-small-vessel-pathology-in-the-ageing-brain
#16
E Kövari, F R Herrmann, G Gold, P R Hof, A Charidimou
AIMS: Cortical microinfarcts (CMI) are frequently observed in the ageing brain independent of cognitive decline, but their aetiology is not fully elucidated. To examine the potential role of different vessel pathologies, including cerebral amyloid angiopathy (CAA), arteriolosclerosis-hyalinosis and thromboembolism in the development of CMI, we examined 80 autopsy cases with more than one CMI on routine neuropathological examination. METHODS: Pial and intracortical vessels around CMI were assessed for their integrity with haematoxylin-eosin staining and antibodies against amyloid-β protein and fibrinogen using a semiquantitative four-level rating scale (absent to severe) in the hippocampus, and the frontal, temporal and occipital cortex...
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27543917/brain-iron-accumulation-in-wilson-disease-a-post-mortem-7-tesla-mri-histopathological-study
#17
P Dusek, E Bahn, T Litwin, K Jabłonka-Salach, A Łuciuk, T Huelnhagen, V I Madai, M A Dieringer, E Bulska, M Knauth, T Niendorf, J Sobesky, F Paul, S A Schneider, A Czlonkowska, W Brück, C Wegner, J Wuerfel
AIMS: In Wilson disease (WD), T2/T2*-weighted (T2*w) MRI frequently shows hypointensity in the basal ganglia that is suggestive of paramagnetic deposits. It is currently unknown whether this hypointensity is related to copper or iron deposition. We examined the neuropathological correlates of this MRI pattern, particularly in relation to iron and copper concentrations. METHODS: Brain slices from nine WD and six control cases were investigated using a 7T-MRI system...
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27543695/systems-proteomic-analysis-reveals-that-clusterin-and-tissue-inhibitor-of-metalloproteinases-3-increase-in-leptomeningeal-arteries-affected-by-cerebral-amyloid-angiopathy
#18
A Manousopoulou, M Gatherer, C Smith, J A R Nicoll, C H Woelk, M Johnson, R Kalaria, J Attems, S D Garbis, R O Carare
AIMS: Amyloid beta (Aβ) accumulation in the walls of leptomeningeal arteries as cerebral amyloid angiopathy (CAA) is a major feature of Alzheimer's disease. In this study, we used global quantitative proteomic analysis to examine the hypothesis that the leptomeningeal arteries derived from patients with CAA have a distinct endophenotypic profile compared to those from young and elderly controls. METHODS: Freshly dissected leptomeningeal arteries from the Newcastle Brain Tissue Resource and Edinburgh Sudden Death Brain Bank from seven elderly (82...
October 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28815663/who-2016-classification-of-gliomas
#19
Pieter Wesseling, David Capper
Gliomas are the most frequent intrinsic tumours of the central nervous system and encompass two principle subgroups: diffuse gliomas and gliomas showing a more circumscribed growth pattern ('non-diffuse gliomas'). In the revised 4th edition of the WHO Classification of CNS tumors published in 2016, classification of especially diffuse gliomas has fundamentally changed: for the first time a large subset of these tumours is now defined based on presence/absence of IDH mutation and 1p/19q codeletion. Following this approach, the diagnosis of (anaplastic) oligoastrocytoma can be expected to largely disappear...
August 16, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28801956/evidence-of-er-stress-and-upr-activation-in-patients-with-brody-disease-and-brody-syndrome
#20
V Guglielmi, N C Voermans, A Oosterhof, D Nowis, B G van Engelen, G Tomelleri, G Vattemi
Brody disease (BD, OMIM #601003) is an inherited skeletal muscle disease clinically characterized by exercise-induced impairment of muscle relaxation and stiffness due to the delay in the Ca(2+) re-uptake in the sarcoplasmic reticulum (SR)[1, 2]. The delayed muscle relaxation mainly affects legs, harms, hands and eyelids and usually improves after a few minutes rest [1-3]. Patients frequently report myalgia, painless or mildly painful cramps whereas recurrent rhabdomyolysis have been described in a few cases [2, 3]...
August 12, 2017: Neuropathology and Applied Neurobiology
journal
journal
26804
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"