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https://www.readbyqxmd.com/read/29044647/epilepsy-and-astrocyte-energy-metabolism
#1
Detlev Boison, Christian Steinhäuser
Epilepsy is a complex neurological syndrome characterized by neuronal hyperexcitability and sudden, synchronized electrical discharges that can manifest as seizures. It is now increasingly recognized that impaired astrocyte function and energy homeostasis play key roles in the pathogenesis of epilepsy. Excessive neuronal discharges can only happen, if adequate energy sources are made available to neurons. Conversely, energy depletion during seizures is an endogenous mechanism of seizure termination. Astrocytes control neuronal energy homeostasis through neurometabolic coupling...
October 17, 2017: Glia
https://www.readbyqxmd.com/read/29031613/pathogenic-mutations-of-the-human-mitochondrial-citrate-carrier-slc25a1-lead-to-impaired-citrate-export-required-for-lipid-dolichol-ubiquinone-and-sterol-synthesis
#2
Homa Majd, Martin S King, Anthony C Smith, Edmund R S Kunji
Missense mutations of the human mitochondrial citrate carrier, encoded by the SLC25A1 gene, lead to an autosomal recessive neurometabolic disorder characterised by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development, often resulting in early death. Here, we have measured the effect of all twelve known pathogenic mutations on the transport activity. The results show that nine mutations abolish transport of citrate completely, whereas the other three reduce the transport rate by more than 70%, indicating that impaired citrate transport is the most likely primary cause of the disease...
October 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28987164/neurometabolic-and-neurodegenerative-diseases-in-children
#3
Josefine Radke, Werner Stenzel, Hans Hilmar Goebel
Neurometabolic and neurodegenerative diseases in children (NDDC) differ from those in adults in that most of the former are autosomal-recessively inherited - few have X-linked inheritance - while the latter are often sporadic or autosomal-dominantly inherited. NDDC may be catabolic and/or anabolic conditions, some of which combine maldevelopmental and degenerative features, for instance, peroxisomal biogenesis disorders or congenital disorders of glycosylation. NDDC are often multiorgan disorders, such as lysosomal, peroxisomal, and polyglucosan disorders...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28934191/effects-of-aerobic-exercise-on-brain-metabolism-and-grey-matter-volume-in-older-adults-results-of-the-randomised-controlled-smart-trial
#4
S Matura, J Fleckenstein, R Deichmann, T Engeroff, E Füzéki, E Hattingen, R Hellweg, B Lienerth, U Pilatus, S Schwarz, V A Tesky, L Vogt, W Banzer, J Pantel
There is mounting evidence that aerobic exercise has a positive effect on cognitive functions in older adults. To date, little is known about the neurometabolic and molecular mechanisms underlying this positive effect. The present study used magnetic resonance spectroscopy and quantitative MRI to systematically explore the effects of physical activity on human brain metabolism and grey matter (GM) volume in healthy aging. This is a randomised controlled assessor-blinded two-armed trial (n=53) to explore exercise-induced neuroprotective and metabolic effects on the brain in cognitively healthy older adults...
July 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28916769/therapeutic-effects-of-the-mitochondrial-ros-redox-modulator-kh176-in-a-mammalian-model-of-leigh-disease
#5
Ria de Haas, Devashish Das, Alejandro Garanto, Herma G Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W J Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G Russel, Jan A Smeitink
Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a mammalian model for Leigh Disease. Using in vivo brain diffusion tensor imaging, we show a loss of brain microstructural coherence in Ndufs4 (-/-) mice in the cerebral cortex, external capsule and cerebral peduncle. These findings are in line with the white matter diffusivity changes described in mitochondrial disease patients...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915122/understanding-fetal-factors-that-contribute-to-preterm-birth-sj%C3%A3-gren-larsson-syndrome-as-a-model
#6
Pippa Staps, Marije Hogeveen, Joris Fuijkschot, Joris van Drongelen, Michèl A A P Willemsen
AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28899744/neural-and-metabolic-basis-of-dynamic-resting-state-fmri
#7
REVIEW
Garth J Thompson
Resting state fMRI (rsfMRI) as a technique showed much initial promise for use in psychiatric and neurological diseases where diagnosis and treatment were difficult. To realize this promise, many groups have moved towards examining "dynamic rsfMRI," which relies on the assumption that rsfMRI measurements on short time scales remain relevant to the underlying neural and metabolic activity. Many dynamic rsfMRI studies have demonstrated differences between clinical or behavioral groups beyond what static rsfMRI measured, suggesting a neurometabolic basis...
September 9, 2017: NeuroImage
https://www.readbyqxmd.com/read/28885847/regulation-of-reduced-folate-carrier-rfc-by-vitamin-d-receptor-at-the-blood-brain-barrier
#8
Camille Alam, Md Tozammel Hoque, Richard H Finnell, I David Goldman, Reina Bendayan
Folates are essential for brain development and function. Folate transport in mammalian tissues is mediated by three major folate transport systems, i.e., reduced folate carrier (RFC), proton-coupled folate transporter (PCFT) and folate receptor alpha (FRα), known to be regulated by ligand-activated nuclear receptors such as vitamin D receptor (VDR). Folate uptake at the choroid plexus, which requires the actions of both FRα and PCFT, is critical to cerebral folate delivery. Inactivating FRα or PCFT mutations cause severe cerebral folate deficiency resulting in early childhood neurodegeneration...
September 8, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28883876/metabolic-screening-in-children-with-neurodevelopmental-delay-seizure-and-or-regression
#9
Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour
OBJECTIVE: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. MATERIALS & METHODS: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28827360/coupling-between-d-3-phosphoglycerate-dehydrogenase-and-d-2-hydroxyglutarate-dehydrogenase-drives-bacterial-l-serine-synthesis
#10
Wen Zhang, Manman Zhang, Chao Gao, Yipeng Zhang, Yongsheng Ge, Shiting Guo, Xiaoting Guo, Zikang Zhou, Qiuyuan Liu, Yingxin Zhang, Cuiqing Ma, Fei Tao, Ping Xu
l-Serine biosynthesis, a crucial metabolic process in most domains of life, is initiated by d-3-phosphoglycerate (d-3-PG) dehydrogenation, a thermodynamically unfavorable reaction catalyzed by d-3-PG dehydrogenase (SerA). d-2-Hydroxyglutarate (d-2-HG) is traditionally viewed as an abnormal metabolite associated with cancer and neurometabolic disorders. Here, we reveal that bacterial anabolism and catabolism of d-2-HG are involved in l-serine biosynthesis in Pseudomonas stutzeri A1501 and Pseudomonas aeruginosa PAO1...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28812290/a-preliminary-report-of-cerebral-white-matter-microstructural-changes-associated-with-adolescent-sports-concussion-acutely-and-subacutely-using-diffusion-tensor-imaging
#11
Trevor Wu, Tricia L Merkley, Elisabeth A Wilde, Amanda Barnes, Xiaoqi Li, Zili David Chu, Stephen R McCauley, Jill V Hunter, Harvey S Levin
Diffusion tensor imaging (DTI) has demonstrated its utility in detecting microscopic post-concussion cerebral white matter structural changes, which are not routinely evident on conventional neuroimaging modalities. In this study, we compared 10 adolescents with sports concussion (SC) to 12 orthopedically-injured (OI) individuals within 96 h and three months post injury to 12 typically-developing (TD) participants using DTI and volumetric analyses. In terms of volume, no group differences were noted between SC, OI and TD groups at both 96 h and three months post concussion...
August 15, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28789715/metabolic-alterations-in-generalised-anxiety-disorder-a-review-of-proton-magnetic-resonance-spectroscopic-studies
#12
G Delvecchio, J A Stanley, A C Altamura, P Brambilla
Generalised anxiety disorder (GAD) is a common psychiatric illness characterised by selective morpho-functional brain alterations. The breath of neuroimaging studies investigating the neural basis of GAD is extensive; however, its pathophysiology is still largely unknown. Specifically for proton Magnetic Resonance Spectroscopy (¹H MRS) investigations, which have the aim of identifying differences in metabolite levels between conditions in key brain areas, often showed contrasting results. Indeed, there are selected ¹H MRS studies reporting deficits of key metabolites in GAD patients; however, collectively the literature remains mixed with respect to consistency of major findings...
August 9, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28774469/thalamic-neurometabolic-alterations-in-tremulous-parkinson-s-disease-a-preliminary-proton-mr-spectroscopy-study
#13
Gaetano Barbagallo, Gennarina Arabia, Maurizio Morelli, Rita Nisticò, Fabiana Novellino, Maria Salsone, Federico Rocca, Andrea Quattrone, Manuela Caracciolo, Umberto Sabatini, Andrea Cherubini, Aldo Quattrone
INTRODUCTION: The objective of this study was to investigate the thalamic biochemical changes in tremor-dominant Parkinson's disease (tPD) patients in comparison with essential tremor with resting tremor (rET) patients, by using proton MR spectroscopy ((1)H-MRS). METHODS: Fourteen tPD patients, 12 rET patients and 10 controls participated in this study. All patients underwent dopamine transporter single-photon emission computed tomography (DAT-SPECT) with (123)I-ioflupane, and a short-echo single-voxel (1)H-MRS on a 3T scanner...
July 28, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28769865/eyelid-dysfunction-in-neurodegenerative-neurogenetic-and-neurometabolic-disease
#14
REVIEW
Ali G Hamedani, Daniel R Gold
Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28762469/impairment-of-gabaergic-system-contributes-to-epileptogenesis-in-glutaric-acidemia-type-i
#15
Mayara Vendramin Pasquetti, Letícia Meier, Samanta Loureiro, Marcelo Ganzella, Bernardo Junges, Letícia Barbieri Caus, Alexandre Umpierrez Amaral, David M Koeller, Stephen Goodman, Michael Woontner, Diogo Onofre Gomes de Souza, Moacir Wajner, Maria Elisa Calcagnotto
OBJECTIVES: Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain parenchyma. The increment of these organic acids inhibits glutamate decarboxylase (GAD) and consequently lowers the γ-aminobutyric acid (GABA) synthesis. Untreated patients exhibit severe neurologic deficits during development, including epilepsy, especially following an acute encephalopathy outbreak...
October 2017: Epilepsia
https://www.readbyqxmd.com/read/28754993/neurometabolic-and-electrophysiological-changes-during-cortical-spreading-depolarization-multimodal-approach-based-on-a-lactate-glucose-dual-microbiosensor-arrays
#16
Cátia F Lourenço, Ana Ledo, Greg A Gerhardt, João Laranjinha, Rui M Barbosa
Spreading depolarization (SD) is a slow propagating wave of strong depolarization of neural cells, implicated in several neuropathological conditions. The breakdown of brain homeostasis promotes significant hemodynamic and metabolic alterations, which impacts on neuronal function. In this work we aimed to develop an innovative multimodal approach, encompassing metabolic, electric and hemodynamic measurements, tailored but not limited to study SD. This was based on a novel dual-biosensor based on microelectrode arrays designed to simultaneously monitor lactate and glucose fluctuations and ongoing neuronal activity with high spatial and temporal resolution...
July 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720782/dysregulated-mirnas-and-their-pathogenic-implications-for-the-neurometabolic-disease-propionic-acidemia
#17
Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat
miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic targets. PA is a potentially lethal neurometabolic disease with patients developing neurological deficits and cardiomyopathy in the long-term, among other complications. In the PA mouse liver we identified 14 significantly dysregulated miRNAs. Three selected miRNAs, miR-34a-5p, miR-338-3p and miR-350, were found upregulated in brain and heart tissues...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710748/longitudinal-changes-in-white-matter-fractional-anisotropy-in-adult-onset-niemann-pick-disease-type-c-patients-treated-with-miglustat
#18
Elizabeth A Bowman, Dennis Velakoulis, Patricia Desmond, Mark Walterfang
Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available is miglustat, an iminosugar that inhibits the accumulation of lipid metabolites in neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how the rate of white matter change differed between treated and non-treated adult-onset NPC patient groups. Nine adult-onset NPC patients (seven undergoing treatment with miglustat, two not treated) underwent DTI neuroimaging...
July 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28696212/compound-heterozygous-slc19a3-mutations-further-refine-the-critical-promoter-region-for-biotin-thiamine-responsive-basal-ganglia-disease
#19
Whitney Whitford, Isobel Hawkins, Emma Glamuzina, Francessa Wilson, Andrew Marshall, Fern Ashton, Donald R Love, Juliet Taylor, Rosamund Hill, Klaus Lehnert, Russell G Snell, Jessie C Jacobsen
Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early-childhood with progressive neurodegeneration, including confusion, seizures, and dysphagia, advancing to coma and death. Treatment is possible via supplement of biotin and/or thiamine, with early treatment resulting in significant life-long improvements. Here we report two siblings who received a refined diagnosis of BTBGD following whole genome sequencing...
July 10, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28688840/impact-of-clinical-exomes-in-neurodevelopmental-and-neurometabolic-disorders
#20
Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou, Stefan Wiemann, Matthias Schlesner, Roland Eils, Stefan Kölker, Claus R Bartram, Georg F Hoffmann, Ute Moog
Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias)...
August 2017: Molecular Genetics and Metabolism
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