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https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#1
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29207673/comparison-among-conventional-and-advanced-mri-18f-fdg-pet-ct-phenotype-and-genotype-in-glioblastoma
#2
Maria Consuelo Valentini, Marta Mellai, Laura Annovazzi, Antonio Melcarne, Tetyana Denysenko, Paola Cassoni, Cristina Casalone, Cristiana Maurella, Silvia Grifoni, Piercarlo Fania, Angelina Cistaro, Davide Schiffer
Glioblastoma (GB) is a highly heterogeneous tumor. In order to identify in vivo the most malignant tumor areas, the extent of tumor infiltration and the sites giving origin to GB stem cells (GSCs), we combined positron emission tomography/computed tomography (PET/CT) and conventional and advanced magnetic resonance imaging (MRI) with histology, immunohistochemistry and molecular genetics. Prior to dura opening and tumor resection, forty-eight biopsy specimens [23 of contrast-enhancing (CE) and 25 of non-contrast enhancing (NE) regions] from 12 GB patients were obtained by a frameless image-guided stereotactic biopsy technique...
October 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/29206326/assessing-the-influence-of-isoflurane-anesthesia-on-cardiac-metabolism-using-hyperpolarized-1-13-c-pyruvate
#3
Jonas Steinhauser, Patrick Wespi, Grzegorz Kwiatkowski, Sebastian Kozerke
Isoflurane is a frequently used anesthetic in small-animal dissolution dynamic nuclear polarization-magnetic resonance imaging (DNP-MRI) studies. Although the literature suggests interactions with mitochondrial metabolism, the influence of the compound on cardiac metabolism has not been assessed systematically to date. In the present study, the impact of low versus high isoflurane concentration was examined in a crossover experiment in healthy rats. The results revealed that cardiac metabolism is modulated by isoflurane concentration, showing increased [1-13 C]lactate and reduced [13 C]bicarbonate production during high isoflurane relative to low isoflurane dose [average differences: +16% [1-13 C]lactate/total myocardial carbon, -22% [13 C]bicarbonate/total myocardial carbon; +51% [1-13 C]lactate/[13 C]bicarbonate]...
December 5, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29193406/online-1-h-mrs-measurements-of-time-varying-lactate-production-in-an-animal-model-of-glioma-during-administration-of-an-anti-tumoral-drug
#4
Yannick Crémillieux, Roberto Salvati, Ursule Dumont, Noël Pinaud, Véronique Bouchaud, Stéphane Sanchez, Stefan Glöggler, Alan Wong
The aims of this study were to implement a magnetic resonance spectroscopy (MRS) protocol for the online profiling of subnanomolar quantities of metabolites sampled from the extracellular fluid using implanted microdialysis and to apply this protocol in glioma-bearing rats for the quantification of lactate concentration and the measurement of time-varying lactate concentration during drug administration. MRS acquisitions on the brain microdialysate were performed using a home-built, proton-tuned, microsolenoid with an active volume of 2 μL...
November 29, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29155113/small-cell-glioblastoma-of-the-sella-turcica-region-a-case-report-and-review-of-the-literature
#5
Shuanglin Deng, Linlin Liu, Danhua Wang, Dan Tong, Gang Zhao
BACKGROUND: Glioblastomas in the sellar region are very rare; in most cases, the tumor originates from the optic nerve/optic chiasm. Only 4 cases of sellar glioblastoma with a non-optic origin have been reported. We present such a case with detailed clinical, imaging and histopathological information. A review of similar published cases is also presented. CASE PRESENTATION: A 42-year-old woman presented with endocrinological abnormalities including, amenorrhea and lactation, symptoms of diabetes insipidus and signs of elevated ICP...
November 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29143921/dichloroacetate-induced-intracellular-acidification-in-glioblastoma-in-vivo-detection-using-aacid-cest-mri-at-9-4%C3%A2-tesla
#6
Mohammed Albatany, Alex Li, Susan Meakin, Robert Bartha
Intracellular pH (pHi) plays an important role in the maintenance of normal cell function, and is maintained within a narrow range by the activity of transporters located at the plasma membrane. Modulation of tumor pHi may influence proliferation, apoptosis, chemotherapy resistance, and thermosensitivity. Chemical exchange saturation transfer (CEST) is a novel MRI contrast mechanism that is dependent on cellular pH. Amine and amide concentration-independent detection (AACID) is a recently developed CEST contrast method that is intracellular pH (pHi) weighted...
November 16, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29142539/values-of-magnetic-resonance-imaging-and-cerebrospinal-fluid-analysis-in-the-diagnosis-of-central-nervous-system-associated-infectious-diseases
#7
Dongfeng Zhang
Objective: To discuss the roles of magnetic resonance imaging (MRI) and cerebrospinal fluid analysis in the identification of central nervous system associated infection and provide a reference for the diagnosis and treatment of central nervous system associated infectious diseases. Methods: Seventy-six patients who developed central nervous system infection and were admitted into the Henan People's Hospital between June 2014 and October 2015 were randomly selected as an observation group...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29130537/evaluation-of-renal-metabolic-response-to-partial-ureteral-obstruction-with-hyperpolarized-13-c-mri
#8
David J Niles, Jeremy W Gordon, Gengwen Huang, Shannon Reese, Erin B Adamson, Arjang Djamali, Sean B Fain
Hyperpolarized (13) C magnetic resonance imaging (MRI) may be used to non-invasively image the transport and chemical conversion of (13) C-labeled compounds in vivo. In this study, we utilize hyperpolarized (13) C MRI to evaluate metabolic markers in the kidneys longitudinally in a mouse model of partial unilateral ureteral obstruction (pUUO). Partial obstruction was surgically induced in the left ureter of nine adult mice, leaving the right ureter as a control. (1) H and hyperpolarized [1-(13) C]pyruvate MRI of the kidneys was performed 2 days prior to surgery (baseline) and at 3, 7 and 14 days post-surgery...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29120921/pregnancy-and-ischemic-stroke-a-practical-guide-to-management
#9
Mayte E van Alebeek, Roel de Heus, Anil M Tuladhar, Frank-Erik de Leeuw
PURPOSE OF REVIEW: Ischemic stroke during pregnancy or the puerperium is a devastating disease during a crucial period in life and warrants a specific approach. To date, current practice is mainly based on expert opinion because of a lack of randomized controlled trials and high-quality observational studies. The present review is intended as a practical guide to (acute) management of ischemic stroke during pregnancy and puerperium. RECENT FINDINGS: Recent findings showed that the incidence of stroke during pregnancy is rising...
November 7, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29083166/enantiomeric-recognition-of-d-and-l-lactate-by-cest-with-the-aid-of-a-paramagnetic-shift-reagent
#10
Lei Zhang, André F Martins, Piyu Zhao, Michael Tieu, David Esteban-Gómez, Gregory T McCandless, Carlos Platas-Iglesias, A Dean Sherry
A previous report demonstrated that EuDO3A could be used as an NMR shift reagent for imaging extracellular lactate produced by cancer cells using CEST imaging. In this work, a series of heptadentate macrocyclic YbDO3A-trisamide complexes with δ-chiral carbons in the three pendant side-arms were examined as shift reagents for lactate detection. High resolution (1)H NMR spectra and DFT calculations provided evidence for the formation of stereoselective lactate·YbDO3A-trisamide complexes each with a different CEST signature...
November 17, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29075935/novel-gfm2-variants-associated-with-early-onset-neurological-presentations-of-mitochondrial-disease-and-impaired-expression-of-oxphos-subunits
#11
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, Langping He, Charlotte L Alston, Charu Deshpande, Michael A Simpson, Andrew A M Morris, Axel Neu, Ulrike Löbel, Julie Hall, Holger Prokisch, Tobias B Haack, Maja Hempel, Robert McFarland, Robert W Taylor
Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c.569G>A, p.(Arg190Gln); c.636delA, p.(Glu213Argfs*3)) and homozygous (c.275A>C, p.(Tyr92Ser)) recessive variants in GFM2 identified by whole exome sequencing (WES) together with histochemical and biochemical findings to support the diagnoses of pathological GFM2 variants in each case...
October 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29030856/mitochondrial-3-hydroxy-3-methylglutaryl-coa-synthase-deficiency-unique-presenting-laboratory-values-and-a-review-of-biochemical-and-clinical-features
#12
Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle, Devin Oglesbee, Dimitar Gavrilov, Eric W Klee, Brendan Lanpher
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive brain abnormalities concerning for a primary energy deficiency...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28978895/magnetic-resonance-imaging-of-neurotransmitter-related-molecules
#13
Hironaka Igarashi, Satoshi Ueki, Ken Ohno, Masaki Ohkubo, Yuji Suzuki
Molecular imaging implies the method capable of pictorially displaying distribution of target molecules and their relative concentration in space. In clinical medicine, where non-invasiveness is mandatory, diagnostic molecular imaging has been considered virtually identical to positron emission tomography (PET). However, there is another powerful, apparently underutilized molecular imaging, namely, proton magnetic resonance spectroscopic imaging ((1)H-MRSI). The technique can detect target molecules endogenous in brain in virtue of their own specific resonance frequencies (chemical shift) and can create quantitative images of each molecule...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/28949271/pressure-passivity-of-cerebral-mitochondrial-metabolism-is-associated-with-poor-outcome-following-perinatal-hypoxic-ischemic-brain-injury
#14
Subhabrata Mitra, Gemma Bale, David Highton, Roxanna Gunny, Cristina Uria-Avellanal, Alan Bainbridge, Magdalena Sokolska, David Price, Angela Huertas-Ceballos, Giles S Kendall, Judith Meek, Ilias Tachtsidis, Nicola J Robertson
Hypoxic ischemic encephalopathy (HIE) leads to significant morbidity and mortality. Impaired autoregulation after hypoxia-ischaemia has been suggested to contribute further to injury. Thalamic lactate/N-Acetylasperate (Lac/NAA) peak area ratio of > 0.3 on proton ((1)H) magnetic resonance spectroscopy (MRS) is associated with poor neurodevelopment outcome following HIE. Cytochrome-c-oxidase (CCO) plays a central role in mitochondrial oxidative metabolism and ATP synthesis. Using a novel broadband NIRS system, we investigated the impact of pressure passivity of cerebral metabolism (CCO), oxygenation (haemoglobin difference (HbD)) and cerebral blood volume (total haemoglobin (HbT)) in 23 term infants following HIE during therapeutic hypothermia (HT)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28936623/acute-renal-metabolic-effect-of-metformin-assessed-with-hyperpolarised-mri-in-rats
#15
Haiyun Qi, Per M Nielsen, Marie Schroeder, Lotte B Bertelsen, Fredrik Palm, Christoffer Laustsen
AIMS/HYPOTHESIS: Metformin inhibits hepatic mitochondrial glycerol phosphate dehydrogenase, thereby increasing cytosolic lactate and suppressing gluconeogenesis flux in the liver. This inhibition alters cytosolic and mitochondrial reduction-oxidation (redox) potential, which has been reported to protect organ function in several disease states including diabetes. In this study, we investigated the acute metabolic and functional changes induced by metformin in the kidneys of both healthy and insulinopenic Wistar rats used as a model of diabetes...
September 21, 2017: Diabetologia
https://www.readbyqxmd.com/read/28920632/acute-cardiotoxicity-induced-by-doxorubicin-in-right-ventricle-is-associated-with-increase-of-oxidative-stress-and-apoptosis-in-rats
#16
N Anghel, H Herman, C Balta, M Rosu, M S Stan, D Nita, A Ivan, Z Galajda, A Ardelean, A Dinischiotu, A Hermenean
Doxorubicin (DOX) is one of the most effective chemotherapeutic agents, but its efficiency is seriously limited by the risk of developing cardiomyopathy. The most recognized cardiotoxic effect is left ventricular (LF) dysfunction, but MRI and echocardiography data demonstrated significant right ventricle (RV) function impairment. In order to clarify this aspect, the present study investigated the potential of DOX to induce acute RV cardiotoxicity at the same time as LV impairment. Rats were intraperitoneally (i...
September 18, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28916229/japanese-leigh-syndrome-case-treated-with-epi-743
#17
Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, Hiroko Shimbo, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Matthew B Klein, Guy Miller, Tomohide Goto, Hitoshi Osaka
BACKGROUND: Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating. CASE: At 5months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings...
September 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28915314/-1-h-mrs-processing-parameters-affect-metabolite-quantification-the-urgent-need-for-uniform-and-transparent-standardization
#18
Alex A Bhogal, Remmelt R Schür, Lotte C Houtepen, Bart van de Bank, Vincent O Boer, Anouk Marsman, Peter B Barker, Tom W J Scheenen, Jannie P Wijnen, Christiaan H Vinkers, Dennis W J Klomp
Proton magnetic resonance spectroscopy ((1) H-MRS) can be used to quantify in vivo metabolite levels, such as lactate, γ-aminobutyric acid (GABA) and glutamate (Glu). However, there are considerable analysis choices which can alter the accuracy or precision of (1) H-MRS metabolite quantification. It is currently unknown to what extent variations in the analysis pipeline used to quantify (1) H-MRS data affect outcomes. The purpose of this study was to evaluate whether the quantification of identical (1) H-MRS scans across independent and experienced research groups would yield comparable results...
September 15, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28899124/apparent-diffusion-coefficient-adc-does-not-correlate-with-different-serological-parameters-in-myositis-and-myopathy
#19
Hans-Jonas Meyer, Oliver Ziemann, Malte Kornhuber, Alexander Emmer, Ulf Quäschling, Stefan Schob, Alexey Surov
Background Magnetic resonance imaging (MRI) is widely used in several muscle disorders. Diffusion-weighted imaging (DWI) is an imaging modality, which can reflect microstructural tissue composition. The apparent diffusion coefficient (ADC) is used to quantify the random motion of water molecules in tissue. Purpose To investigate ADC values in patients with myositis and non-inflammatory myopathy and to analyze possible associations between ADC and laboratory parameters in these patients. Material and Methods Overall, 17 patients with several myositis entities, eight patients with non-inflammatory myopathies, and nine patients without muscle disorder as a control group were included in the study (mean age = 55...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28860608/fmiso-pet-derived-brain-oxygen-tension-maps-application-to-glioblastoma-and-less-aggressive-gliomas
#20
Ararat Chakhoyan, Jean-Sebastien Guillamo, Solène Collet, François Kauffmann, Nicolas Delcroix, Emmanuèle Lechapt-Zalcman, Jean-Marc Constans, Edwige Petit, Eric T MacKenzie, Louisa Barré, Myriam Bernaudin, Omar Touzani, Samuel Valable
Quantitative imaging modalities for the analysis of hypoxia in brain tumors are lacking. The objective of this study was to generate absolute maps of tissue ptO2 from [(18)F]-FMISO images in glioblastoma and less aggressive glioma patients in order to quantitatively assess tumor hypoxia. An ancillary objective was to compare estimated ptO2 values to other biomarkers: perfusion weighted imaging (PWI) and tumor metabolism obtained from (1)H-MR mono-voxel spectroscopy (MRS). Ten patients with glioblastoma (GBM) and three patients with less aggressive glioma (nGBM) were enrolled...
August 31, 2017: Scientific Reports
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