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N-acetylaspartate

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https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#1
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28626388/increasing-n-acetylaspartate-in-the-brain-during-postnatal-myelination-does-not-cause-the-cns-pathologies-of-canavan-disease
#2
Abhilash P Appu, John R Moffett, Peethambaran Arun, Sean Moran, Vikram Nambiar, Jishnu K S Krishnan, Narayanan Puthillathu, Aryan M A Namboodiri
Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present study, we tested the effects of elevated NAA in the brain during postnatal development. Mice were administered high doses of the hydrophobic methyl ester of NAA (M-NAA) twice daily starting on day 7 after birth. This treatment increased NAA levels in the brain to those observed in the brains of Nur7 mice, an established model of Canavan disease...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28623673/a-prominent-lactate-peak-as-a-potential-key-magnetic-resonance-spectroscopy-mrs-feature-of-progressive-multifocal-leukoencephalopathy-pml-spectrum-pattern-observed-in-three-patients
#3
Duško Kozić, Mladen Bjelan, Jasmina Boban, Jelena Ostojić, Vesna Turkulov, Aleksandar Todorović, Slobodanka Lemajić-Komazec, Snežana Brkić
Progressive multifocal leukoencephalopathy (PML) is a rare, often fatal, opportunistic infection, associated with demyelinating process. PML is caused by John Cunningham (JC) polyomavirus, and predominantly involves patients with human immunodeficiency virus (HIV) disease or other immunocompromised conditions. The purpose of this report was to determine the role of magnetic resonance spectroscopy (MRS) in establishing the diagnosis of PML. MRS with long and short echo time was performed in two patients with PML associated with HIV infection and in one PML patient associated with chronic lymphocytic leukemia...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28621205/neurocognitive-dysfunction-in-children-with-%C3%AE-thalassemia-major-psychometric-neurophysiologic-and-radiologic-evaluation
#4
M S Elalfy, R H Aly, H Azzam, K Aboelftouh, R H Shatla, M Tarif, M Abdatty, R M Elsayed
OBJECTIVE: To evaluate the impact of iron chelating drugs and serum ferritin on the neurocognitive functions of patients with β thalassemia major (β-TM), using psychometric, neurophysiologic and radiologic tests. METHODS: Eighty children with β-TM were enrolled into the study and were compared to 40 healthy controls. All participants were evaluated by measuring serum ferritin, neurocognitive assessment by Benton Visual Retention Test, Wechsler Intelligence Scale for Children, Wisconsin Card Sort Test, P300 and magnetic resonance spectroscopy (MRS)...
June 16, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28607048/intraoperative-assessment-of-tumor-margins-during-glioma-resection-by-desorption-electrospray-ionization-mass-spectrometry
#5
Valentina Pirro, Clint M Alfaro, Alan K Jarmusch, Eyas M Hattab, Aaron A Cohen-Gadol, R Graham Cooks
Intraoperative desorption electrospray ionization-mass spectrometry (DESI-MS) is used to characterize tissue smears by comparison with a library of DESI mass spectra of pathologically determined tissue types. Measurements are performed in the operating room within 3 min. These mass spectra provide direct information on tumor infiltration into white or gray brain matter based on N-acetylaspartate (NAA) and on membrane-derived complex lipids. The mass spectra also indicate the isocitrate dehydrogenase mutation status of the tumor via detection of 2-hydroxyglutarate, currently assessed postoperatively on biopsied tissue using immunohistochemistry...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28599998/-pet-scan-and-nmr-spectroscopy-for-the-differential-diagnosis-between-brain-radiation-necrosis-and-tumour-recurrence-after-stereotactic-irradiation-of-brain-metastases-place-in-the-decision-tree
#6
I Menoux, G Noël, I Namer, D Antoni
PURPOSE: After stereotactic radiation therapy for brain metastases, one of the complications is radionecrosis. Differential diagnosis with tumour recurrence can be helped by different methods of imaging, although histology remains the gold standard. According to the treatment centres, practice diverges. The objective of this single-centre retrospective study was to define the power of MRI, PET scan and NMR spectroscopy to establish a decision tree. MATERIAL AND METHODS: This study included patients who underwent stereotactic radiation therapy for brain metastases, and required, during follow-up, both a PET scan and NMR spectroscopy in order to differentiate a radiation necrosis and tumour recurrence...
June 6, 2017: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
https://www.readbyqxmd.com/read/28559071/magnetic-resonance-spectroscopy-findings-in-patients-with-dural-arteriovenous-fistulas-three-case-reports
#7
Hiroaki Nagashima, Atsushi Fujita, Jun Tanaka, Masaaki Kohta, Takashi Sasayama, Kazuhiro Tanaka, Kohkichi Hosoda, Eiji Kohmura
BACKGROUND: Magnetic resonance spectroscopy (MRS) is a potentially useful modality for evaluating brain metabolites in patients with dural arteriovenous fistula (dAVF). Here, we propose a different pattern of MRS-based cerebral metabolism findings in patients with dAVF. CASE DESCRIPTION: We performed MRS in three patients with transverse sigmoid sinus dAVF associated with cortical venous reflux. In case 1, which was associated with vasogenic edema on T2-weighted imaging, decreasing preoperative N-acetylaspartate/creatine, myo-inositol/creatine and increasing lactate/creatine ratios improved after treatment...
May 27, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28555423/improving-the-utility-of-1-h-mrs-for-the-differentiation-of-glioma-recurrence-from-radiation-necrosis
#8
Ian D Crain, Petra S Elias, Kristina Chapple, Adrienne C Scheck, John P Karis, Mark C Preul
Proton magnetic resonance spectroscopy ((1)H-MRS) has shown promise in distinguishing recurrent high-grade glioma from posttreatment radiation effect (PTRE). The purpose of this study was to establish objective (1)H-MRS criteria based on metabolite peak height ratios to distinguish recurrent tumor (RT) from PTRE. A retrospective analysis of magnetic resonance imaging and (1)H-MRS data was performed. Spectral metabolites analyzed included N-acetylaspartate, choline (Cho), creatine (Cr), lactate (Lac), and lipids (Lip)...
May 29, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28537780/science-is-1-inspiration-and-99-biomarkers
#9
Nicolas Dubuisson, Fabiola Puentes, Gavin Giovannoni, Sharmilee Gnanapavan
Neurodegeneration plays a key role in multiple sclerosis (MS) contributing to long-term disability in patients. The prognosis is, however, unpredictable coloured by complex disease mechanisms which can only be clearly appreciated using biomarkers specific to pathobiology of the underlying process. Here, we describe six promising neurodegenerative biomarkers in MS (neurofilament proteins, neurofilament antibodies, tau, N-acetylaspartate, chitinase and chitinase-like proteins and osteopontin), critically evaluating the evidence using a modified Bradford Hill criteria...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
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
#10
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/28523532/progressive-pathological-changes-in-neurochemical-profile-of-the-hippocampus-and-early-changes-in-the-olfactory-bulbs-of-tau-transgenic-mice-rtg4510
#11
Jieun Kim, In-Young Choi, Karen E Duff, Phil Lee
Tauopathies such as Alzheimer's disease and frontotemporal lobe degeneration (FTLD-tau) dementia, characterized by pathologic aggregation of the microtubule-associated tau protein and formation of neurofibrillary tangles, have been linked to neurodegeneration and cognitive decline. The early detection of cerebral abnormalities and the identification of biological contributors to the continuous pathologic processes of neurodegeneration in tauopathies critically hinge on sensitive and reliable measures of biomarkers in the living brain...
May 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28498852/ultra-high-field-7tesla-magnetic-resonance-spectroscopy-in-amyotrophic-lateral-sclerosis
#12
Nazem Atassi, Maosheng Xu, Christina Triantafyllou, Boris Keil, Robert Lawson, Paul Cernasov, Elena Ratti, Christopher J Long, Sabrina Paganoni, Alyssa Murphy, Nouha Salibi, Ravi Seethamraju, Bruce Rosen, Eva-Maria Ratai
The main objective of this study was to utilize high field (7T) in vivo proton magnetic resonance imaging to increase the ability to detect metabolite changes in people with ALS, specifically, to quantify levels of glutamine and glutamine separately. The second objective of this study was to correlate metabolic markers with clinical outcomes of disease progression. 13 ALS participants and 12 age-matched healthy controls (HC) underwent 7 Tesla MRI and MRS. Single voxel MR spectra were acquired from the left precentral gyrus using a very short echo time (TE = 5 ms) STEAM sequence...
2017: PloS One
https://www.readbyqxmd.com/read/28494346/glutamatergic-and-neural-dysfunction-in-postpartum-depression-using-magnetic-resonance-spectroscopy
#13
Carlos E Rosa, Jair C Soares, Felipe P Figueiredo, Ricardo C Cavalli, Marco A Barbieri, Maristela S Schaufelberger, Carlos E G Salmon, Cristina M Del-Ben, Antonio C Santos
Although postpartum depression (PPD) is a prevalent subtype of major depressive disorder, neuroimaging studies on PPD are rare, particularly those identifying neurochemical abnormalities obtained by proton magnetic resonance spectroscopy (¹H-MRS). The dorsolateral prefrontal (DLPF) and the anterior cingulate gyrus (ACG) are part of the neural pathways involved in executive functions and emotional processing, and both structures have been implicated in the neurobiology of depressive disorders. This study aimed to evaluate brain metabolites abnormalities in women with PPD compared with healthy postpartum (HP) women...
April 26, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28476320/region-specific-aging-of-the-human-brain-as-evidenced-by-neurochemical-profiles-measured-noninvasively-in-the-posterior-cingulate-cortex-and-the-occipital-lobe-using-1-h-magnetic-resonance-spectroscopy-at-7-t
#14
Małgorzata Marjańska, J Riley McCarten, James Hodges, Laura S Hemmy, Andrea Grant, Dinesh K Deelchand, Melissa Terpstra
The concentrations of fourteen neurochemicals associated with metabolism, neurotransmission, antioxidant capacity, and cellular structure were measured noninvasively from two distinct brain regions using (1)H magnetic resonance spectroscopy. Seventeen young adults (age 19-22years) and sixteen cognitively normal older adults (age 70-88years) were scanned. To increase sensitivity and specificity, (1)H magnetic resonance spectra were obtained at the ultra-high field of 7T and at ultra-short echo time. The concentrations of neurochemicals were determined using water as an internal reference and accounting for gray matter, white matter, and cerebrospinal fluid content of the volume of interest...
May 3, 2017: Neuroscience
https://www.readbyqxmd.com/read/28459799/mapping-an-extended-neurochemical-profile-at-3-and-7-t-using-accelerated-high-resolution-proton-magnetic-resonance-spectroscopic-imaging
#15
Stephan Gruber, Eva Heckova, Bernhard Strasser, Michal Považan, Gilbert J Hangel, Lenka Minarikova, Siegfried Trattnig, Wolfgang Bogner
OBJECTIVES: The aim of this study was to compare high-resolution free induction decay magnetic resonance spectroscopic imaging (FID-MRSI) at 3 T and 7 T in the brain of healthy subjects and to showcase the clinical potential of accelerated FID-MRSI at 7 T in 2 brain tumor cases. MATERIALS AND METHODS: In this institutional review board-approved study, 10 healthy volunteers (8 men/2 women; age: 31 ± 6 years) were measured at 3 T and 7 T (Trio and 7T-Magnetom; Siemens Healthcare, Germany) and 2 patients (a 38-year-old man and a 37-year-old man), 1 with an anaplastic oligoastrocytoma (grade III) and 1 with a low-grade glioma (oligodendroglioma), were measured at 7 T...
April 28, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28450073/cerebral-magnetic-resonance-changes-associated-with-fibromyalgia-syndrome
#16
REVIEW
Iñigo Murga, Virginia Guillen, José-Vicente Lafuente
Fibromyalgia syndrome is a chronic disease, of unknown origin, whose diagnostic criteria were established in 1990 by the American College of Rheumatology. New criteria were proposed in 2010 that have not yet been validated. It is characterized by a generalized chronic musculoskeletal pain, accompanied by hyperalgesia and allodynia, as well as other motor, vegetative, cognitive and affective symptoms and signs. We have reviewed a set of studies with cerebral magnetic resonance (morphometry, connectivity and spectroscopy) that refer to changes in areas involved in pain processing...
April 24, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28424764/diffusion-tensor-imaging-colour-mapping-threshold-for-identification-of-ventilation-induced-brain-injury-after-intrauterine-inflammation-in-preterm-lambs
#17
Dhafer M Alahmari, Beatrice Skiöld, Samantha K Barton, Ilias Nitsos, Courtney McDonald, Suzanne L Miller, Valerie Zahra, Robert Galinsky, Qizhu Wu, Michael John Farrell, Timothy J Moss, Stuart B Hooper, James T Pearson, Graeme R Polglase
PURPOSE: The aim of this study is to examine whether advanced magnetic resonance imaging (MRI) techniques can detect early brain injury caused by intrauterine inflammation and inappropriate initial respiratory support in preterm lambs. HYPOTHESIS: Neuropathology caused by intrauterine inflammation is exacerbated by mechanical ventilation at birth and is detectable with advanced MRI techniques. METHODS: Pregnant ewes received intra-amniotic lipopolysaccharide (LPS) 7 days prior to delivery at ~125 days of gestation (85% of gestation), whereupon lambs were delivered and randomised to receive an injurious (LPS + INJ, n = 6) or protective (LPS + PROT, n = 6) ventilation strategy...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28397726/long-term-brain-tissue-monitoring-after-semi-brain-irradiation-in-rats-using-proton-magnetic-resonance-spectroscopy-a-preliminary-study-in-vivo
#18
Hong Chen, Yu-Shu Cheng, Zheng-Rong Zhou
BACKGROUND: In head and neck neoplasm survivors treated with brain irradiation, metabolic alterations would occur in the radiation-induced injury area. The mechanism of these metabolic alterations has not been fully understood, while the alternations could be sensitively detected by proton (1H) nuclear magnetic resonance spectroscopy (MRS). In this study, we investigated the metabolic characteristics of radiation-induced brain injury through a long-term follow-up after radiation treatment using MRS in vivo...
April 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28391258/dexmedetomidine-combined-with-therapeutic-hypothermia-is-associated-with-cardiovascular-instability-and-neurotoxicity-in-a-piglet-model-of-perinatal-asphyxia
#19
Mojgan Ezzati, Go Kawano, Eridan Rocha-Ferreira, Daniel Alonso-Alconada, Jane K Hassell, Kevin D Broad, Igor Fierens, Bobbi Fleiss, Alan Bainbridge, David L Price, Pardis Kaynezhad, Brian Anderson, Mariya Hristova, Ilias Tachtsidis, Xavier Golay, Pierre Gressens, Robert D Sanders, Nicola J Robertson
The selective α2-adrenoreceptor agonist dexmedetomidine has shown neuroprotective, analgesic, anti-inflammatory, and sympatholytic properties that may be beneficial in neonatal encephalopathy (NE). As therapeutic hypothermia is only partially effective, adjunct therapies are needed to optimize outcomes. The aim was to assess whether hypothermia + dexmedetomidine treatment augments neuroprotection compared to routine treatment (hypothermia + fentanyl sedation) in a piglet model of NE using magnetic resonance spectroscopy (MRS) biomarkers, which predict outcomes in babies with NE, and immunohistochemistry...
April 8, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28388602/maturational-decrease-of-glutamate-in-the-human-cerebral-cortex-from-childhood-to-young-adulthood-a-1-h-mr-spectroscopy-study
#20
Mami Shimizu, Yuji Suzuki, Kenichi Yamada, Satoshi Ueki, Masaki Watanabe, Hironaka Igarashi, Tsutomu Nakada
BACKGROUND: The aim of the present study was to investigate maturational changes in glutamate (Glu) in the human cerebral cortex from childhood to young adulthood using 3.0-Tesla proton magnetic resonance spectroscopy ((1)H-MRS), which is capable of quantifying Glu in vivo. METHODS: Normal volunteers comprising 11 children (aged 4-13 years) and 11 young adults (aged 18-33 years) participated in the study. Single-voxel point-resolved spectroscopy (PRESS, repetition time/echo time=2000/80 ms) was performed in the frontal and occipital cortices, and the Glu to creatine ratio (Glu/Cr) and N-acetylaspartate to creatine ratio (NAA/Cr) were determined...
April 7, 2017: Pediatric Research
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