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https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#1
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27900344/neurovascular-coupling-develops-alongside-neural-circuits-in-the-postnatal-brain
#2
COMMENT
Mariel G Kozberg, Elizabeth M C Hillman
In the adult brain, increases in local neural activity are accompanied by increases in regional blood flow. This relationship between neural activity and hemodynamics is termed neurovascular coupling and provides the blood flow-dependent contrast detected in functional magnetic resonance imaging (fMRI). Neurovascular coupling is commonly assumed to be consistent and reliable from birth; however, numerous studies have demonstrated markedly different hemodynamics in the early postnatal brain. Our recent study in J...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27893013/proton-chemical-shift-imaging-of-the-brain-in-pediatric-and-adult-developmental-stuttering
#3
Joseph O'Neill, Zhengchao Dong, Ravi Bansal, Iliyan Ivanov, Xuejun Hao, Jay Desai, Elena Pozzi, Bradley S Peterson
Importance: Developmental stuttering is a neuropsychiatric condition of incompletely understood brain origin. Our recent functional magnetic resonance imaging study indicates a possible partial basis of stuttering in circuits enacting self-regulation of motor activity, attention, and emotion. Objective: To further characterize the neurophysiology of stuttering through in vivo assay of neurometabolites in suspect brain regions. Design, Setting, and Participants: Proton chemical shift imaging of the brain was performed in a case-control study of children and adults with and without stuttering...
November 23, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27879386/mitochondrial-calcium-homeostasis-implications-for-neurovascular-and-neurometabolic-coupling
#4
REVIEW
Sridhar S Kannurpatti
Mitochondrial function is critical to maintain high rates of oxidative metabolism supporting energy demands of both spontaneous and evoked neuronal activity in the brain. Mitochondria not only regulate energy metabolism, but also influence neuronal signaling. Regulation of "energy metabolism" and "neuronal signaling" (i.e. neurometabolic coupling), which are coupled rather than independent can be understood through mitochondria's integrative functions of calcium ion (Ca(2+)) uptake and cycling. While mitochondrial Ca(2+) do not affect hemodynamics directly, neuronal activity changes are mechanistically linked to functional hyperemic responses (i...
November 22, 2016: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/27859928/microstructural-changes-of-brain-in-patients-with-aromatic-l-amino-acid-decarboxylase-deficiency
#5
Wang-Tso Lee, Jui-Hsiang Lin, Wen-Chin Weng, Steven Shinn-Forng Peng
Aromatic L-amino acid decarboxylase (AADC) deficiency is an uncommon inherited neurometabolic disease. The clinical presentations and MR findings in children with AADC deficiency were investigated. Total 12 children (6 boys, 6 girls), aged from 9 to 50 months (mean, 23 ±13 months), with AADC deficiency, were enrolled for analysis. Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), and excessive sweating in 8 (67%)...
November 17, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#6
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27830117/the-international-working-group-on-neurotransmitter-related-disorders-intd-a-worldwide-research-project-focused-on-primary-and-secondary-neurotransmitter-disorders
#7
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Eduardo Lopez-Laso, Joaquín A Fernández-Ramos, Tomas Honzik, Toni Pearson, Jennifer Friedman, Sabine Scholl-Bürgi, Tessa Wassenberg, Sabine Jung-Klawitter, Oya Kuseyri, Kathrin Jeltsch, Manju A Kurian, Àngels Garcia-Cazorla
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27817865/mecr-mutations-cause-childhood-onset-dystonia-and-optic-atrophy-a-mitochondrial-fatty-acid-synthesis-disorder
#8
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J Kastaniotis, Bruria Ben-Zeev, Susan J Hayflick
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All affected individuals were found to harbor recessive mutations in MECR encoding the mitochondrial trans-2-enoyl-coenzyme A-reductase involved in human mtFAS...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27815831/current-perspective-of-stem-cell-therapy-in-neurodegenerative-and-metabolic-diseases
#9
REVIEW
Ajay Kumar, Karthikeyan Narayanan, Ravi Kumar Chaudhary, Sachin Mishra, Sundramurthy Kumar, Kumar Jayaseelan Vinoth, Parasuraman Padmanabhan, Balázs Gulyás
Neurodegenerative diseases have been an unsolved riddle for quite a while; to date, there are no proper and effective curative treatments and only palliative and symptomatic treatments are available to treat these illnesses. The absence of therapeutic treatments for neurodegenerative ailments has huge economic hit and strain on the society. Pharmacotherapies and various surgical procedures like deep brain stimulation are being given to the patient, but they are only effective for the symptoms and not for the diseases...
November 4, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27809869/erratum-to-review-and-evaluation-of-the-methodological-quality-of-the-existing-guidelines-and-recommendations-for-inherited-neurometabolic-disorders
#10
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M Mar O'Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D'Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
No abstract text is available yet for this article.
November 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27779341/study-of-neurometabolic-and-behavioral-alterations-in-rodent-model-of-mild-traumatic-brain-injury-a-pilot-study
#11
Kavita Singh, Richa Trivedi, Seenu Haridas, Kailash Manda, Subash Khushu
Mild traumatic brain injury (mTBI) is the most common form of TBI (70-90%) with consequences of anxiety-like behavioral alterations in approximately 23% of mTBI cases. This study aimed to assess whether mTBI-induced anxiety-like behavior is a consequence of neurometabolic alterations. mTBI was induced using a weight drop model to simulate mild human brain injury in rodents. Based on injury induction and dosage of anesthesia, four animal groups were included in this study: (i) injury with anesthesia (IA); (ii) sham1 (injury only, IO); (iii) sham2 (only anesthesia, OA); and (iv) control rats...
October 25, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27749535/a-case-report-of-biotin-thiamine-responsive-basal-ganglia-disease-in-a-saudi-child-is-extended-genetic-family-study-recommended
#12
Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27718422/low-episodic-memory-performance-in-cognitively-normal-elderly-subjects-is-associated-with-increased-posterior-cingulate-gray-matter-n-acetylaspartate-a-1-h-mrsi-study-at-7%C3%A2-tesla
#13
Simon J Schreiner, Thomas Kirchner, Michael Wyss, Jiri M G Van Bergen, Frances C Quevenco, Stefanie C Steininger, Erica Y Griffith, Irene Meier, Lars Michels, Anton F Gietl, Sandra E Leh, Adam M Brickman, Christoph Hock, Roger M Nitsch, Klaas P Pruessmann, Anke Henning, Paul G Unschuld
Low episodic memory performance characterizes elderly subjects at increased risk for Alzheimer's disease (AD) and may reflect neuronal dysfunction within the posterior cingulate cortex and precuneus (PCP) region. To investigate a potential association between cerebral neurometabolism and low episodic memory in the absence of cognitive impairment, tissue-specific magnetic resonance spectroscopic imaging at ultrahigh field strength of 7 Tesla was used to investigate the PCP region in a healthy elderly study population (n = 30, age 70 ± 5...
August 31, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27714692/astrocyte-dysfunction-in-developmental-neurometabolic-diseases
#14
Silvia Olivera-Bravo, Eugenia Isasi, Anabel Fernández, Gabriela Casanova, Juan Carlos Rosillo, Luigi Barbeito
Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to maintain the balance needed for normal development. Here, we review the alterations in astrocyte functions that contribute to a variety of developmental neurometabolic disorders and provide additional data on the predominant role of astrocyte dysfunction in the neurometabolic neurodegenerative disease glutaric acidemia type I. Finally, we describe some of the therapeutical approaches directed to neurometabolic diseases and discuss if astrocytes can be possible therapeutic targets for treating these disorders...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27697074/18f-fdg-pet-correlates-of-impulse-control-disorder-in-a-diabetic-patient
#15
Burak Yulug, Lutfu Hanoglu, Ahmet Mithat Tavli, Tansel Cakır, Elmir Khanmammadov, Oktay Olmuscelik
BACKGROUND: Studies have already shown that hyperglycemia and insulin resistance is significantly associated with the impairment of cerebral glucose metabolism that may secondary lead to cognitive disturbances. In this study, we aimed to evaluate the neurometabolic correlates of diabetes in a patient with Intermittent explosive disorder (IED). METHODS: We have investigated the cerebral glucose metabolism via 2-[18F]-fluoro-2- deoxy-D-glucose positron emission tomography (FDG-PET) in a diabetic patient with aggressive outbursts...
September 30, 2016: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/27693334/historical-developments-in-children-s-deep-brain-stimulation
#16
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
September 7, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27635664/an-11-mer-amyloid-beta-peptide-fragment-provokes-chemical-mutations-and-parkinsonian-biomarker-aggregation-in-dopaminergic-cells-a-novel-road-map-for-transfected-parkinson-s
#17
Parijat Kabiraj, Jose Eduardo Marin, Armando Varela-Ramirez, Mahesh Narayan
Amyloid beta (Aβ) aggregation is generally associated with Alzheimer's onset. Here, we demonstrate that incubation of dopaminergic SH-SY5Y cells with an Aβ peptide fragment (an 11-mer composed of residues 25-35; Aβ (25-35)) results in elevated intracellular nitrosative stress and induces chemical mutation of protein disulfide isomerase (PDI), an endoplasmic reticulum-resident oxidoreductase chaperone. Furthermore, Aβ (25-35) provokes aggregation of both the minor and major biomarkers of Parkinson's disease, namely, synphilin-1 and α-synuclein, respectively...
October 3, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/27631243/in-vivo-neurometabolic-profiling-in-orthostatic-tremor
#18
Julián Benito-León, Elan D Louis, Virginia Mato-Abad, Ulrike Dydak, Juan Álvarez-Linera, Juan Antonio Hernández-Tamames, José Antonio Molina-Arjona, Norberto Malpica, Michele Matarazzo, Juan Pablo Romero, Álvaro Sánchez-Ferro
The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels placed in midparietal gray matter and cerebellum (vermis and central white matter). Spectral analysis was analyzed using the software package LCModel (version 6...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27616477/naxe-mutations-disrupt-the-cellular-nad-p-hx-repair-system-and-cause-a-lethal-neurometabolic-disorder-of-early-childhood
#19
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27604308/advantages-and-pitfalls-of-an-extended-gene-panel-for-investigating-complex-neurometabolic-phenotypes
#20
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue, Yehani Wedatilake, Clare Beesley, Thomas S Jacques, Glenn Anderson, Lara Abulhoul, Alex Broomfield, Maureen Cleary, Stephanie Grunewald, Sophia M Varadkar, Nick Lench, Shamima Rahman, Paul Gissen, Peter T Clayton, Philippa B Mills
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes...
September 6, 2016: Brain: a Journal of Neurology
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