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https://www.readbyqxmd.com/read/29885426/understanding-individual-variability-in-symptoms-and-recovery-following-mtbi-a-role-for-tms-eeg
#1
REVIEW
Hannah L Coyle, Jennie Ponsford, Kate E Hoy
The pathophysiology associated with mild traumatic brain injury (mTBI) includes neurometabolic and cytoskeletal changes that have been shown to impair structural and functional connectivity. Evidence that persistent neuropsychological impairments post injury are linked to structural and functional connectivity changes is increasing. However, to date the relationship between connectivity changes, heterogeneity of persistent symptoms and recovery post mTBI has been poorly characterised. Recent innovations in neuroimaging provide new ways of exploring connectivity changes post mTBI...
June 6, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29876912/-novel-treatments-in-neurometabolic-diseases-the-importance-of-chaperones
#2
B Perez
Incorrect protein folding has been related to a number of genetic diseases. In these pathologies, loss and gain of function mutations can cause protein instability, giving rise to alterations in their catalytic properties or in their subcellular location. The literature includes reports of a number of diseases, called conformational diseases, which are produced by mutations that affect folding. Therefore, many pathologies could benefit from treatment with certain drugs such as proteostasis regulators or pharmacologic chaperones...
June 5, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29876911/-new-insights-in-inborn-errors-of-metabolism-are-leading-to-new-paradigms-in-child-neurology
#3
A Garcia-Cazorla, J M Saudubray
In the last recent years, the -omics era has already transformed child neurology. Next generation sequencing (NGS) has identified many novel disease causing genes and phenotypes. While genetics is of great importance as a diagnostic tool, it is less helpful when it comes to a comprehensive understanding of mechanisms of brain dysfunction. Child neurologists are at high risk of being lost in genomics if they do not face the necessity of a new approach in their clinical practice. The large amount of data provided by NGS is just one more element in a complex puzzle...
June 5, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29871004/age-related-changes-and-reference-values-of-bicaudate-ratio-and-sagittal-brainstem-diameters-on-mri
#4
Sven F Garbade, Nikolas Boy, Jana Heringer, Stefan Kölker, Inga Harting
Cranial magnetic resonance imaging (MRI) plays an important role in the diagnosis of neurometabolic diseases, and, in addition, temporal patterns of signal and volume changes allow insight into the underlying pathogenesis. While assessment of volume changes by visual inspection is subjective, volumetric approaches are often not feasible with rare neurometabolic diseases, where MRIs are often acquired with different scanners and protocols. Linear surrogate parameters of brain volume, for example, the bicaudate ratio, present a robust alternative that can be derived from standard imaging sequences...
June 5, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29851841/when-dysphoria-is-not-a-primary-mental-state-a-case-report-of-the-role-of-the-aromatic-l-aminoacid-decarboxylase
#5
Simona Portaro, Agnese Gugliandolo, Domenico Scionti, Simona Cammaroto, Rosa Morabito, Salvatore Leonardi, Filippo Fraggetta, Placido Bramanti, Emanuela Mazzon
RATIONALE: The aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing as a consequence, their deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor. PATIENT CONCERNS: We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29802602/dependence-on-subconcussive-impacts-of-brain-metabolism-in-collision-sport-athletes-an-mr-spectroscopic-study
#6
Sumra Bari, Diana O Svaldi, Ikbeom Jang, Trey E Shenk, Victoria N Poole, Taylor Lee, Ulrike Dydak, Joseph V Rispoli, Eric A Nauman, Thomas M Talavage
Long term neurological impairments due to repetitive head trauma are a growing concern for collision sport athletes. American Football has the highest rate of reported concussions among male high school athletes, a position held by soccer for female high school athletes. Recent research has shown that subconcussive events experienced by collision sport athletes can be a further significant source of accrued damage. Collision sport athletes experience hundreds of subconcussive events in a single season, and these largely go uninvestigated as they produce no overt clinical symptoms...
May 25, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29795463/the-vagus-neurometabolic-interface-and-clinical-disease
#7
REVIEW
Emily Battinelli Masi, Sergio Iván Valdés-Ferrer, Benjamin Ethan Steinberg
The nervous system both monitors and modulates body metabolism to maintain homoeostasis. In disease states such as obesity and diabetes, the neurometabolic interface is dysfunctional and contributes to clinical illness. The vagus nerve, in particular, with both sensory and motor fibres, provides an anatomical substrate for this interface. Its sensory fibres contain receptors for important circulating metabolic mediators, including leptin and cholecystokinin, and provide real-time information about these mediators to the central nervous system...
May 24, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29786802/-treatment-with-neurostimulation-and-ketogenic-diet-for-people-with-medically-refractory-epilepsy
#8
Eva Kumlien, Tove Hallbook, Maria Dahlin
For some people with medically refractory epilepsy adjunct treatment with neurostimulation and ketogenic diet can be an option. Vagal nerve stimulation, VNS, consists of chronic intermittent electrical stimulation of the vagus nerve. VNS is effective and well tolerated in adolescents and adults. There is insufficient evidence on the efficacy of deep brain stimulation, DBS, and brain-responsive neurostimulation, RNS. Ketogenic diet is an established treatment in epilepsy with an increased number of indications, especially in neurometabolic diseases, where dietary therapy can completely eliminate epilepsy and improve cognitive and motor development...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29779173/long-lasting-high-lysine-diet-aggravates-white-matter-injury-in-glutaryl-coa-dehydrogenase-deficient-gcdh-mice
#9
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A Ribeiro, Guilhian Leipnitz, Michael Woontner, Stephen I Goodman, Diogo Souza, Luis Barbeito, Moacir Wajner
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patients typically develop encephalopatic crises with striatal degeneration and progressive white matter defects. However, late onset patients as well as Gcdh-/- mice only suffer diffuse myelinopathy, suggesting that neuronal death and white matter defects are different pathophysiological events...
May 19, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#10
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#11
Hannah B Gordon, Lourdes Valdez, Anthea Letsou
Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1 -encoded very long chain fatty acid (VLCFA) transporter. X-ALD is clinically heterogeneous, with the cerebral form being the most severe. Diagnosed in boys usually between the ages of 4 and 8, cerebral X-ALD symptoms progress rapidly (in as little as two years) through declines in cognition, learning, and behavior, to paralysis and ultimately to a vegetative state and death...
May 8, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#12
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29713308/-in-vivo-multimodal-magnetic-resonance-imaging-changes-after-n-methyl-d-aspartate-triggered-spasms-in-infant-rats
#13
Minyoung Lee, Mi-Sun Yum, Dong-Cheol Woo, Woo-Hyun Shim, Tae-Sung Ko, Libor Velíšek
Objective: Despite the serious neurodevelopmental sequelae of epileptic encephalopathy during infancy, the pathomechanisms involved remain unclear. To find potential biomarkers that can reflect the pathogenesis of epileptic encephalopathy, we explored the neurometabolic and microstructural sequelae after infantile spasms using a rat model of infantile spasms and in vivo magnetic resonance imaging techniques. Methods: Rats prenatally exposed to betamethasone were subjected to three rounds of intraperitoneal N -methyl-d-aspartate (NMDA) triggering of spasms or received saline injections (controls) on postnatal days (P) 12, 13, and 15...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29700128/letter-to-the-editor-neurometabolic-resting-state-networks-derived-from-seed-based-functional-connectivity-analysis
#14
Nicola Trotta, Kristof Baete, Koen Van Laere, Serge Goldman, Xavier De Tiège, Vincent Wens
No abstract text is available yet for this article.
April 26, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/29686941/adult-onset-generalized-dystonia-as-the-main-manifestation-of-megdel-syndrome
#15
Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, Fanny Mochel
Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29668904/a-whole-brain-longitudinal-study-in-the-yac128-mouse-model-of-huntington-s-disease-shows-distinct-trajectories-of-neurochemical-structural-connectivity-and-volumetric-changes
#16
Lorena I Petrella, João M Castelhano, Mario Ribeiro, José V Sereno, Sónia I Gonçalves, Mário N Laço, Michael R Hayden, A Cristina Rego, Miguel Castelo-Branco
Huntington's disease (HD) is a neurodegenerative disorder causing cognitive and motor impairments, evolving to death within 15-20 years after symptom onset. We previously established a mouse model with the entire human HD gene containing 128 CAG repeats (YAC128) which accurately recapitulates the natural history of the human disease. Defined time points in this natural history enable the understanding of longitudinal trajectories from the neurochemical and structural points of view using non-invasive high-resolution multi-modal imaging...
June 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29668537/cerebral-sinus-venous-thrombosis-and-prothrombotic-risk-factors-in-children-a-single-center-experience-from-turkey
#17
Alper Ozcan, Mehmet Canpolat, Selim Doganay, Ekrem Unal, Musa Karakukcu, Mehmet A Ozdemir, Turkan Patiroglu
BACKGROUND: Cerebral sinus venous thrombosis (CSVT) is a rare cerebrovascular disease that may be life-threatening, especially in children. OBJECTIVE: The purpose of this study was to assess the clinical presentation, radiologic imaging, underlying conditions, treatment, and outcomes of children with CSVT. PATIENTS AND METHODS: In total, 23 consecutive children aged between 1 month to 18 years with CSVT, who were followed-up in Erciyes University Children's Hospital, were retrospectively enrolled in the study from January 2000 to December 2016...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#18
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29648462/a-systematic-review-of-neuroimaging-findings-in-children-and-adolescents-with-sports-related-concussion
#19
Emilie Chamard, Jonathan D Lichtenstein
BACKGROUND: Sport-related concussion (SRC) generally does not result in structural anomalies revealed through clinical imaging techniques such as MRI and CT. While advanced neuroimaging techniques offer another avenue to investigate the subtle alterations following SRC, the current pediatric literature in this area has yet to be reviewed. The aim of this review is to systematically explore the literature on magnetic resonance spectroscopy (MRS), diffusion tensor imaging (DTI), functional magnetic resonance imaging (fMRI), and cortical thickness following SRC in children and adolescents...
2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29594647/pregnancy-management-and-outcome-in-patients-with-four-different-tetrahydrobiopterin-disorders
#20
O Kuseyri, A Weissbach, N Bruggemann, C Klein, M Giżewska, D Karall, S Scholl-Bürgi, H Romanowska, E Krzywińska-Zdeb, A A Monavari, I Knerr, Z Yapıcı, V Leuzzi, T Opladen
INTRODUCTION: Inborn errors of tetrahydrobiopterin (BH4 ) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood is constantly increasing. Pregnancy care of patients with these disorders is therefore a new challenge for clinicians. METHODS: This retrospective study summarises for the first time clinical and biochemical monitoring data of 16 pregnancies in seven women with different disorders of BH4 metabolism and evaluates treatment regimens before and during pregnancy in relation to the obstetrical outcome and paediatric follow-up...
March 28, 2018: Journal of Inherited Metabolic Disease
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