keyword
MENU ▼
Read by QxMD icon Read
search

neurometabolics

keyword
https://www.readbyqxmd.com/read/28284392/diseases-of-the-synaptic-vesicle-a-potential-new-group-of-neurometabolic-disorders-affecting-neurotransmission
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28255778/mitochondrial-acetoacetyl-coa-thiolase-deficiency-basal-ganglia-impairment-may-occur-independently-of-ketoacidosis
#7
Stéphanie Paquay, Agnès Bourillon, Samia Pichard, Jean-François Benoist, Pascale de Lonlay, Dries Dobbelaere, Alain Fouilhoux, Nathalie Guffon, Isabelle Rouvet, François Labarthe, Karine Mention, Guy Touati, Vassili Valayannopoulos, Hélène Ogier de Baulny, Monique Elmaleh-Bergès, Cécile Acquaviva-Bourdain, Christine Vianey-Saban, Manuel Schiff
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment...
March 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28247479/does-efavirenz-replacement-improve-neurological-function-in-treated-hiv-infection
#8
B Payne, T J Chadwick, A Blamire, K N Anderson, J Parikh, J Qian, A M Hynes, J Wilkinson, D A Price
OBJECTIVES: The contribution of specific antiretroviral drugs to cognitive function in HIV-infected people remains poorly understood. Efavirenz (EFV) may plausibly cause cognitive impairment. The objective of this study was therefore to determine whether chronic EFV therapy is a modifier of neurocognitive and neurometabolic function in the setting of suppressive highly active antiretroviral therapy. METHODS: We performed an open-label phase IV controlled trial. Adult subjects who were stable on suppressive EFV therapy for at least 6 months were switched to ritonavir-boosted lopinavir (LPV/r) with no change in the nucleoside reverse transcriptase inhibitor (NRTI) backbone...
March 1, 2017: HIV Medicine
https://www.readbyqxmd.com/read/28243459/neurometabolic-abnormalities-in-schizophrenia-and-depression-observed-with-magnetic-resonance-spectroscopy-at-7-t
#9
Reggie Taylor, Elizabeth A Osuch, Betsy Schaefer, Nagalingam Rajakumar, Richard W J Neufeld, Jean Théberge, Peter C Williamson
BACKGROUND: Examining neurometabolic abnormalities in critical brain areas in schizophrenia and major depressive disorder (MDD) may help guide future pharmacological interventions including glutamate-modulating treatments. AIMS: To measure metabolite concentrations within the anterior cingulate cortex (ACC) and thalamus of people with schizophrenia and people with MDD. METHODS: Spectra were acquired from 16 volunteers with schizophrenia, 17 with MDD and 18 healthy controls using magnetic resonance spectroscopy on a 7 Tesla scanner...
January 2017: BJPsych Open
https://www.readbyqxmd.com/read/28219828/treating-cognitive-impairment-with-transcranial-low-level-laser-therapy
#10
Jack C de la Torre
This report examines the potential of low level laser therapy (LLLT) to alter brain cell function and neurometabolic pathways using red or near infrared (NIR) wavelengths transcranially for the prevention and treatment of cognitive impairment. Although laser therapy on human tissue has been used for a number of medical conditions since the late 1960s, it is only recently that several clinical studies have shown its value in raising neurometabolic energy levels that can improve cerebral hemodynamics and cognitive abilities in humans...
February 13, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28218460/oculogyric-crises-a-review-of-phenomenology-etiology-pathogenesis-and-treatment
#11
REVIEW
Elizabeth J Slow, Anthony E Lang
Oculogyric crises are a rare movement disorder characterized by paroxysmal, conjugate, tonic, usually upwards, deviation of the eyes. Causes for oculogyric crises are limited and include complications of dopamine-receptor blocking medications and neurometabolic disorders affecting dopamine metabolism, suggesting that an underlying hypodopaminergic state is important to the pathogenesis. Mimickers of oculogyric crises exist, and we propose diagnostic criteria to distinguish true oculogyric crises. Recognition of oculogyric crises is important for the diagnosis and appropriate treatment of rare disorders, and an approach to investigations in oculogyric crises is proposed...
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28213850/gamma-hydroxybutyrate-ghb-content-in-hair-samples-correlates-negatively-with-age-in-succinic-semialdehyde-dehydrogenase-deficiency
#12
S S Johansen, X Wang, D Sejer Pedersen, P L Pearl, J-B Roullet, G R Ainslie, K R Vogel, K M Gibson
Gamma-hydroxybutyrate (GHB) is a drug of abuse, an approved therapeutic for narcolepsy, an agent employed for facilitation of sexual assault, as well as a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims of drug-related assault, we have opted to examine its level in SSADHD...
February 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28211814/are-major-dementias-triggered-by-poor-blood-flow-to-the-brain-theoretical-considerations
#13
Jack C de la Torre
There is growing evidence that chronic brain hypoperfusion plays a central role in the development of Alzheimer's disease (AD) long before dyscognitive symptoms or amyloid-β accumulation in the brain appear. This commentary proposes that dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD) may also develop from chronic brain hypoperfusion following a similar but not identical neurometabolic breakdown as AD. The argument to support this conclusion is that chronic brain hypoperfusion, which is found at the early stages of the three dementias reviewed here, will reduce oxygen delivery and lower oxidative phosphorylation promoting a steady decline in the synthesis of the cell energy fuel adenosine triphosphate (ATP)...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28203104/proton-magnetic-resonance-spectroscopy-assessment-of-metabolite-status-of-the-anterior-cingulate-cortex-in-chronic-pain-patients-and-healthy-controls
#14
Takahiro Ito, Sachiko Tanaka-Mizuno, Narihito Iwashita, Ikuo Tooyama, Akihiko Shiino, Katsuyuki Miura, Sei Fukui
BACKGROUND: Chronic pain is a common cause of reduced quality of life. Recent studies suggest that chronic pain patients have a different brain neurometabolic status to healthy people. Proton magnetic resonance spectroscopy ((1)H-MRS) can determine the concentrations of metabolites in a specific region of the brain without being invasive. PATIENTS AND METHODS: We recruited 56 chronic pain patients and 60 healthy controls to compare brain metabolic characteristics...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28170180/therapeutic-prospective-of-infused-allogenic-cultured-mesenchymal-stem-cells-in-traumatic-brain-injury-mice-a-longitudinal-proton-magnetic-resonance-spectroscopy-assessment
#15
Sushanta Kumar Mishra, Poonam Rana, Subash Khushu, Gurudutta Gangenahalli
Improved therapeutic assessment of experimental traumatic brain injury (TBI), using mesenchymal stem cells (MSCs), would immensely benefit its therapeutic management. Neurometabolite patterns at injury site, measured with proton magnetic resonance spectroscopy (1H-MRS) after MSCs transplantation, may serve as a bio-indicator of the recovery mechanism. This study used in vivo magnetic resonance imaging and 1H-MRS to evaluate the therapeutic prospects of implanted MSCs at injury site in experimental mice longitudinally up to 21 days...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28148276/evolution-of-structural-neuroimaging-biomarkers-in-a-series-of-adult-patients-with-niemann-pick-type-c-under-treatment
#16
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel
BACKGROUND: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28137912/l2hgdh-deficiency-accumulates-l-2-hydroxyglutarate-with-progressive-leukoencephalopathy-and-neurodegeneration
#17
Shenghong Ma, Renqiang Sun, Bowen Jiang, Jun Gao, Wanglong Deng, Peng Liu, Ruoyu He, Jing Cui, Minbiao Ji, Wei Yi, Pengyuan Yang, Xiaohui Wu, Yue Xiong, Zilong Qiu, Dan Ye, Kun-Liang Guan
L-2-hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. In this study, we generated L2hgdh knockout (KO) mice and observed a robust increase of 2-hydroxyglutarate (L-2-HG) levels in multiple tissues. The highest levels of L-2-HG were observed in the brain and testis with a corresponding increase in histone methylation in these tissues. L2hgdh KO mice exhibit white matter abnormalities, extensive gliosis, microglia-mediated neuroinflammation, and an expansion of oligodendrocyte progenitor cells (OPCs)...
January 30, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#18
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#19
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
March 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28062662/disease-causing-mutations-affecting-surface-residues-of-mitochondrial-glutaryl-coa-dehydrogenase-impair-stability-heteromeric-complex-formation-and-mitochondria-architecture
#20
Jessica Schmiesing, Benjamin Lohmöller, Michaela Schweizer, Henning Tidow, Søren W Gersting, Ania C Muntau, Thomas Braulke, Chris Mühlhausen
The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes. Twenty percent of all pathogenic mutations affect single amino acid residues on the surface of GCDH resulting in a severe clinical phenotype. We report here on heterologous expression studies of 18 missense mutations identified in GA1 patients affecting surface amino acids. Western blot and pulse chase experiments revealed that the stability of half of the GCDH mutants was significantly reduced...
January 5, 2017: Human Molecular Genetics
keyword
keyword
110572
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"