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https://www.readbyqxmd.com/read/29161788/aggressive-supratentorial-ependymoma-rela-fusion-positive-with-extracranial-metastasis-a-case-report
#1
Seong-Ik Kim, Yoojin Lee, Seung Ki Kim, Hyoung Jin Kang, Sung-Hye Park
Ependymoma is the third most common pediatric primary brain tumor. Ependymomas are categorized according to their locations and genetic abnormalities, and these two parameters are important prognostic factors for patient outcome. For supratentorial (ST) ependymomas, RELA fusion-positive ependymomas show a more aggressive behavior than YAP1 fusion-positive ependymomas. Extracranial metastases of intra-axial neuroepithelial tumors are extremely rare. In this paper, we report a case of aggressive anaplastic ependymoma arising in the right frontoparietal lobe, which had genetically 1q25 gain, CDKN2A homozygous deletion, and L1CAM overexpression...
November 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29161578/probabilistic-pharmacokinetic-models-of-decompression-sickness-in-humans-part-2-coupled-perfusion-diffusion-models
#2
F Gregory Murphy, Ethan A Hada, David J Doolette, Laurens E Howle
Decompression sickness (DCS) can be experienced following a reduction in ambient pressure; such as that associated with diving or ascent to high altitudes. DCS is believed to result when supersaturated inert gas dissolved in biological tissues exits solution and forms bubbles. Models to predict the probability of DCS are typically based on nitrogen and/or helium gas uptake and washout in several theoretical tissues, each represented by a single perfusion-limited compartment. It has been previously shown that coupled perfusion-diffusion compartments are better descriptors than solely perfusion-based models of nitrogen and helium uptake and elimination kinetics observed in the brain and skeletal muscle of sheep...
November 15, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#3
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159203/varicella-zoster-virus-infected-cerebrovascular-cells-produce-a-proinflammatory-environment
#4
Dallas Jones, C Preston Neff, Brent E Palmer, Kurt Stenmark, Maria A Nagel
Objective: To test whether varicella zoster virus (VZV) infection of human brain vascular cells and of lung fibroblasts directly increases proinflammatory cytokine levels, consistent with VZV as a causative agent in intracerebral VZV vasculopathy and giant-cell arteritis (GCA). Methods: Conditioned supernatant from mock- and VZV-infected human brain vascular adventitial fibroblasts (HBVAFs), human perineurial cells (HPNCs), human brain vascular smooth muscle cells (HBVSMCs), and human fetal lung fibroblasts (HFLs) were collected at 72 hours postinfection and analyzed for levels of 30 proinflammatory cytokines using the Meso Scale Discovery Multiplex ELISA platform...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29158983/adult-zebra-finches-rehearse-highly-variable-song-patterns-during-sleep
#5
Brent K Young, Gabriel B Mindlin, Ezequiel Arneodo, Franz Goller
Brain activity during sleep is fairly ubiquitous and the best studied possible function is a role in memory consolidation, including motor memory. One suggested mechanism of how neural activity effects these benefits is through reactivation of neurons in patterns resembling those of the preceding experience. The specific patterns of motor activation replayed during sleep are largely unknown for any system. Brain areas devoted to song production in the songbird brain exhibit spontaneous song-like activity during sleep, but single cell neural recordings did not permit detection of the specific song patterns...
2017: PeerJ
https://www.readbyqxmd.com/read/29157904/anti-fatigue-activity-of-an-arabinan-rich-pectin-from-acerola-malpighia-emarginata
#6
Rafael Roberto Klosterhoff, Luiz K S Kanazawa, Ana L D M Furlanetto, Joao V C Peixoto, Claudia R Corso, Eliana R Adami, Marcello Iacomini, Rosalvo T H Fogaça, Alexandra Acco, Silvia M S C Cadena, Roberto Andreatini, Lucimara M C Cordeiro
A fraction composed of an arabinan-rich pectin was extracted from acerola fruit (Malpighia emarginata) and named ACWS. This fraction presented 93% of total carbohydrate, relative molecular weight of 7.5×10(4)g/mol, galacturonic acid, arabinose, galactose, xylose and rhamnose in 52.1:32.4:7.2:4.8:3.5 molar ratio and had its structure confirmed by NMR analysis. The anti-fatigue activity of ACWS was evaluated using the weight load swim test on trained mice. ACWS was orally administered at doses of 50mg/kg, 100mg/kg and 200mg/kg for 28 days...
November 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29157881/deformation-of-avian-middle-ear-structures-under-static-pressure-loads-and-potential-regulation-mechanisms
#7
Raf Claes, Pieter G G Muyshondt, Joris J J Dirckx, Peter Aerts
Static pressure changes can alter the configuration and mechanical behavior of the chain of ossicles, which may affect the acoustic transfer function. In mammals, the Eustachian tube plays an important role in restoring ambient middle ear pressure, hence restoring the acoustic transfer function and excluding barotrauma of the middle and inner ear. Ambient pressure fluctuations can be potentially extreme in birds and due to the simple structure of the avian middle ear (one ossicle, one muscle), regulation of the middle ear pressure via reflexive opening of the pharyngotympanic tube appears all the more important...
November 7, 2017: Zoology: Analysis of Complex Systems, ZACS
https://www.readbyqxmd.com/read/29157305/evaluation-of-the-effect-of-a-floxed-neo-cassette-within-the-dystroglycan-dag1-gene
#8
Francesca Sciandra, Bianca Maria Scicchitano, Giulia Signorino, Maria Giulia Bigotti, Barbara Tavazzi, Francesca Lombardi, Manuela Bozzi, Gigliola Sica, Bruno Giardina, Sandra Blaess, Andrea Brancaccio
OBJECTIVE: Dystroglycan (DG) is an adhesion complex formed by two subunits, α-DG and β-DG. In skeletal muscle, DG is part of the dystrophin-glycoprotein complex that is crucial for sarcolemma stability and it is involved in a plethora of muscular dystrophy phenotypes. Due to the important role played by DG in skeletal muscle stability as well as in a wide variety of other tissues including brain and the peripheral nervous system, it is essential to investigate its genetic assembly and transcriptional regulation...
November 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29155183/insights-into-brain-microstructure-from-in-vivo-dw-mrs
#9
Marco Palombo, Noam Shemesh, Itamar Ronen, Julien Valette
Many developmental processes, such as plasticity and aging, or pathological processes such as neurological diseases are characterized by modulations of specific cellular types and their microstructures. Diffusion-weighted Magnetic Resonance Imaging (DW-MRI) is a powerful technique for probing microstructure, yet its information arises from the ubiquitous, non-specific water signal. By contrast, diffusion-weighted Magnetic Resonance Spectroscopy (DW-MRS) allows specific characterizations of tissues such as brain and muscle in vivo by quantifying the diffusion properties of MR-observable metabolites...
November 16, 2017: NeuroImage
https://www.readbyqxmd.com/read/29155029/molecular-characterization-and-expression-analysis-of-complement-component-3-in-dojo-loach-misgurnus-anguillicaudatus
#10
Yongsheng Xu, Yongyao Yu, Xiaoting Zhang, Zhenyu Huang, Huili Li, Shuai Dong, Yangzhou Liu, Fen Dong, Zhen Xu
The complement component 3 (C3) is a central component of complement system. All three pathways converge at formation of C3 convertases and share the terminal pathways of membrane attack complex (MAC) formation. In this study, three isoforms of C3 were discovered in Misgurnus anguillicaudatus, named "C3-1", "C3-2" and "C3-3", respectively. The full-length of C3-1 cDNA sequence was firstly identified and analyzed from dojo loach (Misgurnus anguillicaudatus). The Ma-C3-1 cDNA sequence comprised of 4509 bp encoding 1454 amino acids with a putative signal peptide of 20 amino acid residues...
November 15, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29154805/the-effects-of-imaginary-voluntary-muscle-contraction-and-relaxation-on-cerebellar-brain-inhibition
#11
Hiroaki Tanaka, Akiyoshi Matsugi, Yohei Okada
The purpose of this study was to investigate cerebellar brain inhibition (CBI) of the contralateral primary motor cortex (M1) during imaginary muscle contraction (Contract-I) and relaxation (Relax-I) using transcranial magnetic stimulation (TMS). Twenty-nine healthy adults completed two experiments. Motor evoked potentials (MEPs) in the right first dorsal interosseous (FDI) muscle were induced by TMS over the left M1 and measured with or without TMS over the right cerebellum during Contract-I (first experiment) and Relax-I (second experiment) of the right FDI, and these were compared to the findings in a no-imagery (No-I) condition...
November 14, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29152685/cerebral-palsy-an-overview
#12
REVIEW
Sheffali Gulati, Vishal Sondhi
Cerebral palsy (CP) is a neurodevelopmental disorder characterized by abnormalities of muscle tone, movement and motor skills, and is attributed to injury to the developing brain. The clinical features of this entity evolve over time and the specific CP syndrome may be recognizable only after 3-5 y of age; although suggestive signs and symptoms may be present at an earlier age. The management involves neurological rehabilitation (addressing muscle tonal abnormalities, and devising physical and occupational therapies) and diagnosis and management of co-morbidities (including epilepsy, impairment of cognition, vision, hearing, and disturbances of growth and gastrointestinal function)...
November 20, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29151193/disturbances-of-diurnal-phase-markers-behavior-and-clock-genes-in-a-rat-model-of-depression-modulatory-effects-of-agomelatine-treatment
#13
K Højgaard, S L Christiansen, E V Bouzinova, O Wiborg
Major depressive disorder (MDD) is a growing problem worldwide. Though, the etiology remains unresolved, circadian rhythm disturbances are frequently observed in MDD and thus is speculated to play a key role herein. The present study focuses on circadian rhythm disturbances in the chronic mild stress (CMS) animal model of depression and examined whether the atypical antidepressant, agomelatine, which is mediating its action via melatonergic and serotonergic receptors, is capable of resynchronizing the perturbed rhythm...
November 19, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/29151141/mechanical-perturbations-can-elicit-triggered-reactions-in-the-absence-of-a-startle-response
#14
Christopher J Forgaard, Ian M Franks, Kimberly Bennett, Dana Maslovat, Romeo Chua
Perturbations delivered to the upper limbs elicit reflexive responses in stretched muscle at short- (M1: 25-50 ms) and long- (M2: 50-100 ms) latencies. When presented in a simple reaction time (RT) task, the perturbation can also elicit a preprogrammed voluntary response at a latency (< 100 ms) that overlaps the M2 response. This early appearance of the voluntary response following a proprioceptive stimulus causing muscle stretch is called a triggered reaction. Recent work has demonstrated that a perturbation also elicits activity in sternocleidomastoid (SCM) over a time-course consistent with the startle response and it was, therefore, proposed that the StartReact effect underlies triggered reactions (Ravichandran et al...
November 18, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29149028/changes-of-cerebral-and-or-peripheral-adenosine-a%C3%A2-receptor-and-igf-i-concentrations-under-extended-sleep-duration-in-rats
#15
Mounir Chennaoui, Pierrick J Arnal, Rodolphe Dorey, Fabien Sauvet, Sylvain Ciret, Thierry Gallopin, Damien Leger, Catherine Drogou, Danielle Gomez-Merino
Extended sleep improves sustained attention and reduces sleep pressure in humans. Downregulation of adenosine A₁ receptor (A₁R) and modulation of the neurotrophic factor insulin growth factor-1 (IGF-I) in brain structures controlling attentional capacities could be involved. In the frontal cortex and hippocampus of rats, we measured adenosine A₁R and IGF-I protein concentrations after photoperiod-induced sleep extension. Two groups of twelve rats were adapted over 14 days to a habitual (CON) 12:12 light-dark (LD) schedule and an extended (EXT) 16:8 LD schedule...
November 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29147586/corticospinal-plasticity-in-bilateral-primary-motor-cortices-induced-by-paired-associative-stimulation-to-the-dominant-hemisphere-does-not-differ-between-young-and-older-adults
#16
Daina S E Dickins, Marc R Kamke, Martin V Sale
Older adults have been shown to exhibit a reduction in the lateralization of neural activity. Although neuroplasticity induced by noninvasive brain stimulation has been reported to be attenuated in the targeted motor cortex of older adults, it remains possible that the plasticity effects may instead manifest in a more distributed (bilateral) network. Furthermore, attention, which modulates neuroplasticity in young adults, may influence these effects. To address these questions, plasticity was induced in young (19-32 years) and older (65-78 years) adults using transcranial magnetic stimulation (TMS) paired with peripheral nerve stimulation...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/29145189/rem-sleep-behavior-disorder
#17
Claudio L Bassetti, Panagiotis Bargiotas
Rapid eye movement sleep behavior disorder (RBD) is a brain disorder, characterized by the dream enactment during rapid eye movement (REM) sleep due to a lack of physiologic muscle atonia and increased muscle twitching. Schenk was the first to describe this disorder in 1986; however, few authors reported in the 1970-1980s loss of physiological muscle atonia combined with dream enactment in the course of brainstem disorders and as a consequence of alcoholism and antidepressant treatment. RBD affects less than 1% of the adult population, but can be found in up to 25-50% of neurodegenerative disorders including Parkinson's disease, multisystem atrophy, and dementia with Lewy body...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29141982/a-partial-loss-of-function-variant-in-akt2-is-associated-with-reduced-insulin-mediated-glucose-uptake-in-multiple-insulin-sensitive-tissues-a-genotype-based-callback-positron-emission-tomography-study
#18
Aino Latva-Rasku, Miikka-Juhani Honka, Alena Stančáková, Heikki A Koistinen, Johanna Kuusisto, Li Guan, Alisa K Manning, Heather Stringham, Anna L Gloyn, Cecilia M Lindgren, Francis S Collins, Karen L Mohlke, Laura J Scott, Tomi Karjalainen, Lauri Nummenmaa, Michael Boehnke, Pirjo Nuutila, Markku Laakso
Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma insulin level and risk of type 2 diabetes. The effects of p.Pro50Thr on insulin-stimulated glucose uptake (GU) in the whole body and in different tissues have not previously been investigated...
November 15, 2017: Diabetes
https://www.readbyqxmd.com/read/29141949/microvascular-insulin-resistance-in-skeletal-muscle-and-brain-occurs-early-in-the-development-of-juvenile-obesity-in-pigs
#19
T Dylan Olver, Zachary Ian Grunewald, Thomas J Jurrissen, Rebecca Ek MacPherson, Paul J LeBlanc, Teagan R Schnurbusch, Alana M Czajkowski, Maurice Harold Laughlin, R Scott Rector, Shawn B Bender, Eric M Walters, Craig A Emter, Jaume Padilla
BACKGROUND: Impaired microvascular insulin signaling may develop prior to overt indices of microvascular endothelial dysfunction and represent an early pathological feature of adolescent obesity. Using a translational porcine model of juvenile obesity, we tested the hypotheses that in the early stages of obesity development, impaired insulin signaling manifests in skeletal muscle (triceps), brain (prefrontal cortex) and corresponding vasculatures, and that depressed insulin-induced vasodilation is reversible with acute inhibition of protein kinase C beta (PKCβ)...
November 15, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29134705/a-dystroglycan-mutation-p-cys667phe-associated-to-muscle-eye-brain-disease-with-multicystic-leucodystrophy-results-in-er-retention-of-the-mutant-protein
#20
Giulia Signorino, Sonia Covaceuszach, Manuela Bozzi, Wolfgang Hubner, Viola Mönkemöller, Petr V Konarev, Alberto Cassetta, Andrea Brancaccio, Francesca Sciandra
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated α-DG and the transmembrane β-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by a reduced glycosylation of α-DG. The genes mutated in secondary dystroglycanopathies are involved in the synthesis of O-mannosyl glycans and in the O-mannosylation pathway of α-DG. Mutations in the DG gene (DAG1), causing primary dystroglycanopathies, destabilize the α-DG core protein influencing its binding to modifying enzymes...
November 13, 2017: Human Mutation
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