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https://www.readbyqxmd.com/read/28529047/bezafibrate-prevents-mitochondrial-dysfunction-antioxidant-system-disturbance-glial-reactivity-and-neuronal-damage-induced-by-sulfite-administration-in-striatum-of-rats-implications-for-a-possible-therapeutic-strategy-for-sulfite-oxidase-deficiency
#1
Mateus Grings, Alana Pimentel Moura, Belisa Parmeggiani, Julia Tauna Pletsch, Gabriela Miranda Fernandez Cardoso, Pauline Maciel August, Cristiane Matté, Angela T S Wyse, Moacir Wajner, Guilhian Leipnitz
Sulfite accumulates in tissues of patients affected by sulfite oxidase (SO) deficiency, a neurometabolic disease characterized by seizures and progressive encephalopathy, often resulting in early death. We investigated the effects of sulfite on mitochondrial function, antioxidant system, glial reactivity and neuronal damage in rat striatum, as well as the potential protective effects of bezafibrate on sulfite-induced toxicity. Thirty-day-old rats were intrastriatally administered with sulfite (2μmol) or NaCl (2μmol; control) and euthanized 30min after injection for evaluation of biochemical parameters and western blotting, or 7days after injection for analysis of glial reactivity and neuronal damage...
May 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28525587/assessing-the-psychedelic-after-glow-in-ayahuasca-users-post-acute-neurometabolic-and-functional-connectivity-changes-are-associated-with-enhanced-mindfulness-capacities
#2
Frederic Sampedro, Mario de la Fuente Revenga, Marta Valle, Natalia Roberto, Elisabet Domínguez-Clavé, Matilde Elices, Luís Eduardo Luna, José Alexandre S Crippa, Jaime E C Hallak, Draulio B de Araujo, Pablo Friedlander, Steven A Barker, Enrique Álvarez, Joaquim Soler, Juan C Pascual, Amanda Feilding, Jordi Riba
Background: Ayahuasca is a plant tea containing the psychedelic 5-HT2A agonist N,N-dimethyltryptamine (DMT) and harmala monoamine-oxidase inhibitors. Acute administration leads to neurophysiological modifications in brain regions of the default mode network (DMN), purportedly through a glutamatergic mechanism. Post-acutely, ayahuasca potentiates mindfulness capacities in volunteers, and induces rapid and sustained antidepressant effects in treatment-resistant patients. However, the mechanisms underlying these fast and maintained effects are poorly understood...
May 19, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#3
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28482157/enhancing-continuous-online-microdialysis-using-dexamethasone-measurement-of-dynamic-neurometabolic-changes-during-spreading-depolarization
#4
Erika L Varner, Chi Leng Leong, Andrea Jaquins-Gerstl, Kathryn M Nesbitt, Martyn G Boutelle, Adrian Charles Michael
Microdialysis is well established in chemical neuroscience as a mainstay technology for real time intracranial chemical monitoring in both animal models and human patients. Evidence shows that microdialysis can be enhanced by mitigating the penetration injury caused during the insertion of microdialysis probes into brain tissue. Herein, we show that retrodialysis of dexamethasone in the rat cortex enhances the microdialysis detection of K+ and glucose transients induced by spreading depolarization. Without dexamethasone, quantification of glucose transients was unreliable by 5 days after probe insertion...
May 8, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28470148/peroxisomal-dysfunctions-cause-lysosomal-storage-and-axonal-kv1-channel-redistribution-in-peripheral-neuropathy
#5
Sandra Kleinecke, Sarah Richert, Livia de Hoz, Britta Brügger, Theresa Kungl, Ebrahim Asadollahi, Susanne Quintes, Judith Blanz, Rhona McGonigal, Kobra Naseri, Michael W Sereda, Timo Sachsenheimer, Christian Lüchtenborg, Wiebke Möbius, Hugh Willison, Myriam Baes, Klaus-Armin Nave, Celia Michèle Kassmann
Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of myelin itself. Surprisingly, nerves of Schwann cell-specific Pex5 mutant mice were unaltered regarding axon numbers, axonal calibers, and myelin sheath thickness by electron microscopy. In search for a molecular mechanism, we revealed enhanced abundance and internodal expression of axonal membrane proteins normally restricted to juxtaparanodal lipid-rafts...
May 4, 2017: ELife
https://www.readbyqxmd.com/read/28428906/tbc1d24-mutations-in-a-sibship-with-multifocal-polymyoclonus
#6
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A Kurian
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28428210/proton-chemical-shift-imaging-study-of-the-combined-antiretroviral-therapy-impact-on-neurometabolic-parameters-in-chronic-hiv-infection
#7
J Boban, D Kozic, V Turkulov, D Lendak, M Bjelan, M Semnic, S Brkic
BACKGROUND AND PURPOSE: The introduction of combination antiretroviral therapy has failed to reduce the high prevalence of mild forms of HIV-associated neurocognitive disorders. The aim of this study was to test the effect of combined antiretroviral therapy on brain metabolite ratios in chronic HIV infection by using proton chemical shift imaging. MATERIALS AND METHODS: We performed 2D chemical shift imaging in 91 subjects (31 HIV+ patients with chronic infection on combination antiretroviral therapy, 19 combination antiretroviral therapy-na|fkve HIV+ subjects with chronic infection, and 41 healthy controls), covering frontal and parietal subcortical white and cingulate gyrus gray matter, analyzing ratios of NAA/Cr and Cho/Cr on long-TE and mIns/Cr on short-TE MR spectroscopy...
April 20, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28401986/auditory-processing-following-infantile-spasms-an-event-related-potential-study
#8
Tangunu Fosi, Klaus Werner, Stewart G Boyd, Michelle De Haan, Rod C Scott, Brian G Neville
OBJECTIVES: To investigate acoustic auditory processing in patients with recent infantile spasms (IS). METHODS: Patients (n = 22; 12 female; median age 8 months; range 5-11 months) had normal preceding development, brain magnetic resonance imaging (MRI), and neurometabolic testing (West syndrome of unknown cause, uWS). Controls were healthy babies (n = 22; 11 female; median age 6 months; range 3-12 months). Event-related potentials (ERPs) and psychometry (Bayley Scales of Infant Development, Second Edition, BSID-II) took place at a month following IS remission...
April 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28399095/-modern-principles-of-integrated-diagnostics-and-rehabilitation-of-perinatal-lesions-of-the-nervous-system-and-their-consequences
#9
S A Nemkova
The article is devoted to the comprehensive diagnosis and treatment of perinatal lesions of the nervous system and their consequences in children. Reflects modern approaches to data classification conditions, taking into account ideas on the etiology and pathogenesis of the disease, the clinical manifestations of the main syndromes (excitation and depression, hypertensive, convulsive, movement disorders) as the neonatal period, and in the formation of long-term effects (motor and mental delay and speech development, hyperkinetic syndrome, cerebral palsy and others)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28396261/experimental-evidence-of-oxidative-stress-in-patients-with-l-2-hydroxyglutaric-aciduria-and-that-l-carnitine-attenuates-in-vitro-dna-damage-caused-by-d-2-hydroxyglutaric-and-l-2-hydroxyglutaric-acids
#10
Daiane Grigolo Bardemaker Rodrigues, Daniella de Moura Coelho, Ângela Sitta, Carlos Eduardo Diaz Jacques, Tatiane Hauschild, Vanusa Manfredini, Abdellatif Bakkali, Eduard A Struys, Cornelis Jakobs, Moacir Wajner, Carmen Regla Vargas
d-2-hydroxyglutaric (D-2-HGA) and l-2-hydroxyglutaric (L-2-HGA) acidurias are rare neurometabolic disorders biochemically characterized by increased levels of d-2-hydroxyglutaric acid (D-2-HG) and l-2-hydroxyglutaric acid (L-2-HG) respectively, in biological fluids and tissues. These diseases are caused by mutations in the specific enzymes involved in the metabolic pathways of these organic acids. In the present work, we first investigated whether D-2-HG and L-2-HGA could provoke DNA oxidative damage in blood leukocytes and whether l-carnitine (LC) could prevent the in vitro DNA damage induced by these organic acids...
April 7, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28383542/quantitative-clinical-characteristics-of-53-patients-with-mps-vii-a-cross-sectional-analysis
#11
Matthias Zielonka, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Markus Ries
PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient data). Main outcome measures were onset of disease and survival. The role of biomarkers such as GUS residual enzyme activity and levels of storage material assessed as urinary excretion of glucosaminoglycans (GAG) as potential predictors of clinical outcomes were investigated...
April 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28378819/upstream-slc2a1-translation-initiation-causes-glut1-deficiency-syndrome
#12
Michèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, Bregje W van Bon, Sinje Geuer, Christian Gilissen, Joerg Klepper, Michael P Kwint, Wilhelmina G Leen, Maartje Pennings, Ron A Wevers, Joris A Veltman, Erik-Jan Kamsteeg
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28367954/bioenergetic-impairment-in-congenital-muscular-dystrophy-type-1a-and-leigh-syndrome-muscle-cells
#13
Cibely C Fontes-Oliveira, Maarten Steinz, Peter Schneiderat, Hindrik Mulder, Madeleine Durbeej
Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. Leigh syndrome (LS) is a neurometabolic disease caused by mutations in genes related to mitochondrial function. Skeletal muscle is severely affected in both diseases and a common feature is muscle weakness that leads to hypotonia and respiratory problems...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28342212/high-speed-whole-brain-oximetry-by-golden-angle-radial-mri
#14
Wen Cao, Yulin V Chang, Erin K Englund, Hee Kwon Song, Suliman Barhoum, Zachary B Rodgers, Michael C Langham, Felix W Wehrli
PURPOSE: To determine whole-brain cerebral metabolic rate of oxygen (CMRO2 ), an improved imaging approach, based on radial encoding, termed radial OxFlow (rOxFlow), was developed to simultaneously quantify draining vein venous oxygen saturation (SvO2 ) and total cerebral blood flow (tCBF). METHODS: To evaluate the efficiency and precision of the rOxFlow sequence, 10 subjects were studied during a paradigm of repeated breath-holds with both rOxFlow and Cartesian OxFlow (cOxFlow) sequences...
March 25, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28284392/diseases-of-the-synaptic-vesicle-a-potential-new-group-of-neurometabolic-disorders-affecting-neurotransmission
#15
E Cortès-Saladelafont, A Tristán-Noguero, R Artuch, X Altafaj, A Bayès, A García-Cazorla
The general concept of inborn error of metabolism is currently evolving into the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of "inborn error of neurotransmitters (NT)" that considers mainly defects of synthesis and catabolism and transport of low weight NT molecules. Monogenic defects of the synaptic vesicle (SV), and especially those affecting the SV cycle are a potential new group of NT disorders since they end up in abnormal NT turnover and release...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284389/biochemical-analyses-of-cerebrospinal-fluid-for-the-diagnosis-of-neurometabolic-conditions-what-can-we-expect
#16
Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal
In this article, we review the state-of-the-art analysis of different biomarkers in the cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin, and gamma-aminobutyric acid) and pterin deficiencies, and vitamin defects (folate, vitamin B6, and thiamine) that affect the brain. The analysis of several key metabolites are detailed, which thus highlights the preanalytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the biochemical profiles in the context of severe neuropediatric disorders...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28277145/impact-of-next-generation-sequencing-on-diagnosis-and-management-of-neurometabolic-disorders-current-advances-and-future-perspectives
#17
Maja Tarailo-Graovac, Wyeth W Wasserman, Clara D M Van Karnebeek
No abstract text is available yet for this article.
February 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28273723/effects-of-a-72-hours-fasting-on-brain-metabolism-in-healthy-women-studied-in%C3%A2-vivo-with-magnetic-resonance-spectroscopic-imaging
#18
Xiao-Qi Ding, Andrew A Maudsley, Ulrich Schweiger, Birte Schmitz, Ralf Lichtinghagen, Stefan Bleich, Heinrich Lanfermann, Kai G Kahl
Adaptive response of human brain to stress plays a key role in maintaining health. Knowledge about how stress affects neurometabolism may help to understand adaptive stress responses, and distinguish maladaptation in neuropsychiatric disorders. In this study, neurometabolic responses to fasting stress in healthy women were investigated. Fifteen healthy females were examined for mood and cognition and using whole-brain MR spectroscopic imaging before and immediately after a 72-h fasting. Results were compared to 15 age-matched healthy females who did not taken part in fasting (non-fasting)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28260693/genomic-deletion-of-git2-induces-a-premature-age-related-thymic-dysfunction-and-systemic-immune-system-disruption
#19
Sana Siddiqui, Ana Lustig, Arnell Carter, Mathavi Sankar, Caitlin M Daimon, Richard T Premont, Harmonie Etienne, Jaana van Gastel, Abdelkrim Azmi, Jonathan Janssens, Kevin G Becker, Yongqing Zhang, William Wood, Elin Lehrmann, James G Martin, Bronwen Martin, Dennis D Taub, Stuart Maudsley
Recent research has proposed that GIT2 (G protein-coupled receptor kinase interacting protein 2) acts as an integrator of the aging process through regulation of 'neurometabolic' integrity. One of the commonly accepted hallmarks of the aging process is thymic involution. At a relatively young age, 12 months old, GIT2(-/-) mice present a prematurely distorted thymic structure and dysfunction compared to age-matched 12 month-old wild-type control (C57BL/6) mice. Disruption of thymic structure in GIT2(-/-) (GIT2KO) mice was associated with a significant reduction in the expression of the cortical thymic marker, Troma-I (cytokeratin 8)...
March 4, 2017: Aging
https://www.readbyqxmd.com/read/28258862/-the-place-of-neuropathy-in-the-early-diagnosis-of-cockayne-syndrome-report-on-two-siblings
#20
N Blin-Rochemaure, N Allani-Essid, R Carlier, V Laugel, S Quijano-Roy
Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders...
February 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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