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https://www.readbyqxmd.com/read/29411290/experimental-evidence-that-in-vivo-intracerebral-administration-of-l-2-hydroxyglutaric-acid-to-neonatal-rats-provokes-disruption-of-redox-status-and-histopathological-abnormalities-in-the-brain
#1
Rafael Teixeira Ribeiro, Ângela Zanatta, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Francine Hehn de Oliveira, Bianca Seminotti, Moacir Wajner
Tissue accumulation of L-2-hydroxyglutaric acid (L-2-HG) is the biochemical hallmark of L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic inherited disease characterized by neurological symptoms and brain white matter abnormalities whose pathogenesis is not yet well established. L-2-HG was intracerebrally administered to rat pups at postnatal day 1 (P1) to induce a rise of L-2-HG levels in the central nervous system (CNS). Thereafter, we investigated whether L-2-HG in vivo administration could disturb redox homeostasis and induce brain histopathological alterations in the cerebral cortex and striatum of neonatal rats...
February 6, 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29405484/report-of-four-novel-variants-in-asns-causing-asparagine-synthetase-deficiency-and-review-of-literature
#2
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
Asparagine synthetase deficiency (ASNSD, MIM 615574) is a recently delineated rare neurometabolic disorder caused by mutations in ASNS (MIM 108370) (Ruzzo et al., 2013). It is characterized by congenital and/or postnatal progressive microcephaly, global developmental delay, seizures, growth retardation, cerebral atrophy and simplified gyral pattern.
February 6, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29380912/ubiquinol-treatment-for-tbi-in-male-rats-effects-on-mitochondrial-integrity-injury-severity-and-neurometabolism
#3
Janet D Pierce, Raeesa Gupte, Amanda Thimmesch, Qiuhua Shen, John B Hiebert, William M Brooks, Richard L Clancy, Francisco J Diaz, Janna L Harris
Following traumatic brain injury (TBI), there is significant secondary damage to cerebral tissue from increased free radicals and impaired mitochondrial function. This imbalance between reactive oxygen species (ROS) production and the effectiveness of cellular antioxidant defenses is termed oxidative stress. Often there are insufficient antioxidants to scavenge ROS, leading to alterations in cerebral structure and function. Attenuating oxidative stress following a TBI by administering an antioxidant may decrease secondary brain injury, and currently many drugs and supplements are being investigated...
January 30, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29377412/high-fat-diet-induces-a-neurometabolic-state-characterized-by-changes-in-glutamate-and-n-acetylaspartate-pools-associated-with-early-glucose-intolerance-an-in-vivo-multimodal-mri-study
#4
Mário Ribeiro, João Castelhano, Lorena I Petrella, José Sereno, Tiago Rodrigues, Christian Neves, Liliana Letra, Filipa I Baptista, Raquel Seiça, Paulo Matafome, Miguel Castelo-Branco
BACKGROUND: Type-2 diabetes mellitus (T2DM) is a metabolic disorder with a broad range of complications in the brain that depend on the conditions that precede its onset, such as obesity and metabolic syndromes. It has been suggested that neurotransmitter and metabolic perturbations may emerge even before the early stages of T2DM and that high-caloric intake could adversely influence the brain in such states. Notwithstanding, evidence for neurochemical and structural alterations in these conditions are still sparse and controversial...
January 26, 2018: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29368186/protection-before-impact-the-potential-neuroprotective-role-of-nutritional-supplementation-in-sports-related-head-trauma
#5
REVIEW
Jonathan M Oliver, Anthony J Anzalone, Stephanie M Turner
Even in the presence of underreporting, sports-related concussions/mild traumatic brain injuries (mTBI) are on the rise. In the absence of proper diagnosis, an athlete may return to play prior to full recovery, increasing the risk of second-impact syndrome or protracted symptoms. Recent evidence has demonstrated that sub-concussive impacts, those sustained routinely in practice and competition, result in a quantifiable pathophysiological response and the accumulation of both concussive and sub-concussive impacts sustained over a lifetime of sports participation may lead to long-term neurological impairments and an increased risk of developing neurodegenerative diseases...
January 24, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29358550/amalaki-rasayana-improved-memory-and-neuronal-metabolic-activity-in-abpp-ps1-mouse-model-of-alzheimer-s-disease
#6
Vivek Tiwari, Kamal Saba, Pandichelvam Veeraiah, Jedy Jose, Subhash C Lakhotia, Anant B Patel
Alzheimer's disease (AD) is the most common neurodegenerative disorder characterized by progressive loss of memory and cognitive function. The cerebral metabolic rate of glucose oxidation has been shown to be reduced in AD. The present study evaluated efficacy of dietary Amalaki Rasayana (AR), an Ayurvedic formulation used in Indian traditional system, in AbPP-PS1 mouse model of AD in ameliorating memory and neurometabolism, and compared with donepezil, a standard FDA approved drug for AD. The memory of mice was measured using Morris Water Maze analysis...
September 2017: Journal of Biosciences
https://www.readbyqxmd.com/read/29333903/the-first-report-of-relative-incidence-of-inherited-white-matter-disorders-in-an-asian-country-based-on-an-iranian-bioregistry-system
#7
Mahmoud Reza Ashrafi, Zahra Rezaei, Morteza Heidari, Sedigheh Nikbakht, Reza Azizi Malamiri, Mahmoud Mohammady, Gholam Reza Zamani, Reza Shervin Badv, Parastoo Rostami, Mojtaba Movahedinia, Mostafa Qorbani, Man Amanat, Ali Reza Tavasoli
Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children's Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran's capital city Tehran, with an average child population of 2 988 800 children...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29310864/brain-amyloid-burden-and-cerebrovascular-disease-are-synergistically-associated-with-neurometabolism-in-cognitively-unimpaired-older-adults
#8
Simon J Schreiner, Thomas Kirchner, Atul Narkhede, Michael Wyss, Jiri M G Van Bergen, Stephanie C Steininger, Anton Gietl, Sandra E Leh, Valerie Treyer, Alfred Buck, Klaas P Pruessmann, Roger M Nitsch, Christoph Hock, Anke Henning, Adam M Brickman, Paul G Unschuld
Alzheimer's disease (AD) is the most common cause of cognitive dysfunction in older adults. The pathological hallmarks of AD such as beta amyloid (Aβ) aggregation and neurometabolic change, as indicated by altered myo-inositol (mI) and N-acetylaspartate (NAA) levels, typically precede the onset of cognitive dysfunction by years. Furthermore, cerebrovascular disease occurs early in AD, but the interplay between vascular and neurometabolic brain change is largely unknown. Thirty cognitively normal older adults (age = 70 ± 5...
December 12, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29288871/neurobiology-of-the-dorsolateral-prefrontal-cortex-in-gad-aberrant-neurometabolic-correlation-to-hippocampus-and-relationship-to-anxiety-sensitivity-and-iq
#9
Jeremy D Coplan, Ryan Webler, Srinath Gopinath, Chadi G Abdallah, Sanjay J Mathew
INTRODUCTION: The neurometabolism underlying the cognitive and affective symptoms associated with generalized anxiety disorder (GAD) remain poorly understood. After we have linked worry to intelligence in patients with GAD, we hypothesized that aberrant neurometabolic correlations between hippocampus and neocortical regions may underlie a shared substrate in GAD patients for both anxiety sensitivity and intelligence. METHODS: GAD patients (n = 16; F = 11) and healthy volunteers (n = 16; F = 10) were assessed using 1H-MRSI...
December 12, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29279021/increased-myo-inositol-in-primary-motor-cortex-of-contact-sport-athletes-without-a-history-of-concussion
#10
Genevieve Lefebvre, Emilie Chamard, Sebastien Proulx, Sara Tremblay, Mark Halko, Salil Soman, Elaine de Guise, Alvaro Pascual-Leone, Hugo Theoret
OBJECTIVE: Determine whether repetitive hits to the head at a subclinical level are associated with structural and functional brain abnormalities and if these effects are influenced by high levels of fitness associated with intense physical activity. METHODS: Seventy-two college students were recruited: 24 non-athletes, 24 athletes practicing a varsity contact sport, and 24 athletes practicing a varsity non-contact sport. They were recruited for a neuropsychological evaluation and a magnetic resonance imaging session that included magnetic resonance spectroscopy of primary motor cortex (M1) and prefrontal cortex and susceptibility-weighted imaging...
December 26, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29238895/an-overview-of-combined-d-2-and-l-2-hydroxyglutaric-aciduria-functional-analysis-of-cic-variants
#11
Ana Pop, Monique Williams, Eduard A Struys, Magnus Monné, Erwin E W Jansen, Anna De Grassi, Warsha A Kanhai, Pasquale Scarcia, Matilde R Fernandez Ojeda, Vito Porcelli, Silvy J M van Dooren, Pascal Lennertz, Benjamin Nota, Jose E Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S Salomons
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA...
December 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29235064/induction-of-neuroinflammatory-response-and-histopathological-alterations-caused-by-quinolinic-acid-administration-in-the-striatum-of-glutaryl-coa-dehydrogenase-deficient-mice
#12
Alexandre Umpierrez Amaral, Bianca Seminotti, Janaína Camacho da Silva, Francine Hehn de Oliveira, Rafael Teixeira Ribeiro, Carmen Regla Vargas, Guilhian Leipnitz, Abel Santamaría, Diogo Onofre Souza, Moacir Wajner
Glutaric acidemia type I (GA I) is an inherited neurometabolic disorder caused by a severe deficiency of the mitochondrial glutaryl-CoA dehydrogenase (GCDH) activity. Patients usually present progressive cortical leukodystrophy and commonly develop acute bilateral striatal degeneration mainly during infections that markedly worse their prognosis. A role for quinolinic acid (QA), a key metabolite of the kynurenine pathway, which is activated during inflammatory processes, on the pathogenesis of the acute striatum degeneration occurring in GA I was proposed but so far has not yet been evaluated...
December 12, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29193829/riboflavin-transporter-deficiency-mimicking-mitochondrial-myopathy-caused-by-complex-ii-deficiency
#13
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss...
November 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29183865/intraventricular-glioblastoma-multiforme-in-a-child-with-l2-hydroxyglutaric-aciduria
#14
Ai Peng Tan, Kshitij Mankad
L2-hydroxyglutaric aciduria (L2-HGA) is a rare neurometabolic disease characterised by accumulation of L2-hydroxyglutarate (L2-HG), a potential oncometabolite resulting in significant lifetime risk for cerebral tumors. Here in, we present a case of intraventricular glioblastoma multiforme (GBM) in a 16-year-old child with L2-HGA who presented with rapid functional decline and persistent vomiting. The tumour was completely resected and the patient remained well at 2-year follow up. Clinicians should be aware of the usual insidious nature of the disease...
November 25, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29181426/mitochondrial-matrix-ph-as-a-decisive-factor-in-neurometabolic-imaging
#15
Patrick M Schaefer, Diana Hilpert, Moritz Niederschweiberer, Larissa Neuhauser, Sviatlana Kalinina, Enrico Calzia, Angelika Rueck, Bjoern von Einem, Christine A F von Arnim
Alterations of cellular bioenergetics are a common feature in most neurodegenerative disorders. However, there is a selective vulnerability of different brain regions, cell types, and even mitochondrial populations to these metabolic disturbances. Thus, the aim of our study was to establish and validate an in vivo metabolic imaging technique to screen for mitochondrial function on the subcellular level. Based on nicotinamide adenine dinucleotide (phosphate) fluorescence lifetime imaging microscopy [NAD(P)H FLIM], we performed a quantitative correlation to high-resolution respirometry...
October 2017: Neurophotonics
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#16
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#17
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#18
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
January 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29110179/a-double-blind-placebo-controlled-trial-of-triheptanoin-in-adult-polyglucosan-body-disease-and-open-label-long-term-outcome
#19
Raphael Schiffmann, Mary E Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
BACKGROUND: Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit. METHODS AND RESULTS: This was a two-site, randomized crossover trial of 23 patients (age 35-73 years; 63% men) who received triheptanoin or vegetable oil as placebo...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29103428/overview-of-inflammation-in-neurometabolic-diseases
#20
Gregory A Grabowski
Neuroinflammation is an intrinsic component of the neurodegeneration of inborn errors of neurometabolic diseases. Diseases resulting in lysosomal, peroxisomal, and autophagocytic disruption lead to neuroinflammation by different mechanisms relating to accumulated substrates and/or downstream deficiencies that cause presymptomatic microglial activation, axonal instabilities and/or direct hyperactivation of intrinsic inflammatory mechanisms. Only in selected diseases is the blood-brain barrier (BBB) breached, thereby permitting peripheral adaptive immune mechanisms to amplify intrinsic immune reactions in the central nervous system...
August 2017: Seminars in Pediatric Neurology
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