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https://www.readbyqxmd.com/read/27826747/serum-compounds-of-energy-metabolism-impairment-are-related-to-disability-disease-course-and-neuroimaging-in-multiple-sclerosis
#1
Giacomo Lazzarino, Angela M Amorini, Axel Petzold, Claudio Gasperini, Serena Ruggieri, Maria Esmeralda Quartuccio, Giuseppe Lazzarino, Enrico Di Stasio, Barbara Tavazzi
Multiple sclerosis (MS) is characterized by primary inflammation, demyelination, and progressive neurodegeneration. A biochemical MS feature is neuronal mitochondrial dysfunction, compensated by anaerobic metabolism increase, likely aggravating progression of neurodegeneration. Here, we characterized a pragmatic serum profile of compounds related to mitochondrial energy metabolism of potential clinical use. Blood samples of 518 well characterized (disability, disease course) MS patients and 167 healthy controls were analyzed for serum purines, pyrimidines, creatinine, and lactate...
November 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27814822/acr-appropriateness-criteria-palpable-breast-masses
#2
Jennifer A Harvey, Mary C Mahoney, Mary S Newell, Lisa Bailey, Lora D Barke, Carl D'Orsi, Mary K Hayes, Peter M Jokich, Su-Ju Lee, Constance D Lehman, Martha B Mainiero, David A Mankoff, Samir B Patel, Handel E Reynolds, M Linda Sutherland, Bruce G Haffty
A palpable breast mass is one of the most common presenting features of breast carcinoma. However, the clinical features are frequently nonspecific. Imaging performed before biopsy is helpful in characterizing the nature of the mass. For women with clinically detected breast masses, the vast majority will require evaluation with ultrasound. Diagnostic mammography is the initial imaging modality of choice for women aged ≥ 40 years; ultrasound is typically necessary unless a definitively benign mass is identified as the etiology of the clinical finding...
November 2016: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/27813167/how-often-are-pediatric-patients-with-clinically-amyopathic-dermatomyositis-truly-amyopathic
#3
Edward J Oberle, Michelle L Bayer, Yvonne E Chiu, Dominic O Co
BACKGROUND: Pediatric patients can present with skin manifestations of dermatomyositis without overt weakness (clinically amyopathic juvenile dermatomyositis [JDM]), but it is unclear how often this happens and how often they have subclinical muscle inflammation. OBJECTIVE: Our goal was to determine the frequency of clinically amyopathic JDM and the frequency with which a thorough evaluation uncovers subclinical myositis at a single institution. METHODS: A retrospective review was performed of 46 patients diagnosed with JDM at Children's Hospital of Wisconsin...
November 4, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27789117/acute-ataxia-in-children-a-review-of-the-differential-diagnosis-and-evaluation-in-the-emergency-department
#4
REVIEW
Mauro Caffarelli, Amir A Kimia, Alcy R Torres
Acute ataxia in a pediatric patient poses a diagnostic dilemma for any physician. While the most common etiologies are benign, occasional individuals require urgent intervention. Children with stroke, toxic ingestion, infection, and neuro-inflammatory disorders frequently exhibit ataxia as an essential-if not the only-presenting feature. The available retrospective research utilize inconsistent definitions of acute ataxia, precluding the ability to pool data from these studies. No prospective data exist that report on patients presenting to the emergency department with ataxia...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27788532/umbilical-artery-lactate-correlates-with-brain-lactate-in-term-infants
#5
Alison G Cahill, George A Macones, Christopher D Smyser, Julia D López, Terrie E Inder, Amit M Mathur
Objective The objective of this study was to determine the correlation between umbilical artery lactate with brain lactate in nonanomalous term infants. Study Design We performed a nested case-control study within an on-going prospective cohort of more than 8,000 consecutive singleton term (≥ 37 weeks) nonanomalous infants. Neonates underwent cerebral magnetic resonance imaging (MRI) within the first 72 hours of life. Cases (umbilical artery pH ≤ 7.10) were gender and race matched 1:3 to controls (umbilical artery pH > 7...
October 27, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27784480/-role-of-magnetic-resonance-imaging-in-the-diagnosis-of-juvenile-dermato-myositis-and-polymyositis-in-chinese-children
#6
J M Lai, F Q Wu, Z X Zhou, X Y Yuan, G X Su, S N Li, Y C Yan, J Zhu, M Kang
Objective: To evaluate the utility of magnetic resonance imaging (MRI) in diagnosis of juvenile dermatomyositis and polymyositis (JDM-PM) in children. Method: Fifty-four patients with JDM-PM in the active stage were enrolled in the study group. Twelve patients with benign acute childhood myositis and forty patients with juvenile idiopathic arthritis (JIA) complicated with myositis were enrolled as controls. MRI imaging of thighs was performed in all patients, fast spin echo T1WI, T2WI, and STIR were obtained in all patients...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27738517/combined-biomarker-testing-for-the-prediction-of-left-ventricular-remodelling-in-st-elevation-myocardial-infarction
#7
Sebastian Johannes Reinstadler, Hans-Josef Feistritzer, Martin Reindl, Gert Klug, Agnes Mayr, Johannes Mair, Werner Jaschke, Bernhard Metzler
OBJECTIVE: The utility of different biomarkers for the prediction of left ventricular remodelling (LVR) following ST-elevation myocardial infarction (STEMI) has been evaluated in several studies. However, very few data exist on the prognostic value of combined biomarkers. The aim of this study was to comprehensively investigate the prognostic value for LVR of routinely available biomarkers measured after reperfused STEMI. METHODS: Serial measurements of N-terminal pro-B-type natriuretic peptide (NT-proBNP), high-sensitivity cardiac troponin T (hs-cTnT), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH) and high-sensitivity C reactive protein (hs-CRP) were performed in 123 patients with STEMI treated with primary percutaneous coronary intervention in this prospective observational study...
2016: Open Heart
https://www.readbyqxmd.com/read/27716740/high-levels-of-periostin-correlate-with-increased-fracture-rate-diffuse-mri-pattern-abnormal-bone-remodeling-and-advanced-disease-stage-in-patients-with-newly-diagnosed-symptomatic-multiple-myeloma
#8
E Terpos, D Christoulas, E Kastritis, T Bagratuni, M Gavriatopoulou, M Roussou, A Papatheodorou, E Eleutherakis-Papaiakovou, N Kanellias, C Liakou, I Panagiotidis, M Migkou, P Kokkoris, L A Moulopoulos, M A Dimopoulos
Periostin is an extracellular matrix protein that is implicated in the biology of normal bone remodeling and in different cancer cell growth and metastasis. However, there is no information on the role of periostin in multiple myeloma (MM). Thus, we evaluated periostin in six myeloma cell lines in vitro; in the bone marrow plasma and serum of 105 newly diagnosed symptomatic MM (NDMM) patients and in the serum of 23 monoclonal gammopathy of undetermined significance (MGUS), 33 smoldering MM (SMM) patients, 30 patients at the plateau phase post-first-line therapy, 30 patients at first relapse and 30 healthy controls...
October 7, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27714889/comparison-between-proton-magnetic-resonance-spectroscopy-findings-in-dogs-with-tick-borne-encephalitis-and-clinically-normal-dogs
#9
Christine Sievert, Henning Richter, Katrin Beckmann, Patrick R Kircher, Ines Carrera
In vivo diagnosis of tick-borne encephalitis is difficult due to high seroprevalence and rapid viral clearance, limiting detection of antibodies in blood and cerebrospinal fluid. Magnetic resonance imaging (MRI) characteristics of tick-borne encephalitis have been reported, however MRI studies can also be negative despite the presence of neurologic signs. Magnetic resonance spectroscopy ((1) H MRS) is an imaging method that provides additional information about the metabolic characteristics of brain tissues...
October 7, 2016: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/27670140/quantitative-chemical-exchange-saturation-transfer-mri-of-intervertebral-disc-in-a-porcine-model
#10
Zhengwei Zhou, Maxim Bez, Wafa Tawackoli, Joseph Giaconi, Dmitriy Sheyn, Sandra de Mel, Marcel M Maya, Barry D Pressman, Zulma Gazit, Gadi Pelled, Dan Gazit, Debiao Li
PURPOSE: Previous studies have associated low pH in intervertebral discs (IVDs) with discogenic back pain. The purpose of this study was to determine whether quantitative CEST (qCEST) MRI can be used to detect pH changes in IVDs in vivo. METHODS: The exchange rate ksw between glycosaminoglycan (GAG) protons and water protons was determined from qCEST analysis. Its dependence on pH value was investigated in GAG phantoms with varying pH and concentrations. The relationship between ksw and pH was studied further in vivo in a porcine model on a 3T MR scanner and validated using a pH meter...
December 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/27659543/non-invasive-detection-of-2-hydroxyglutarate-in-idh-mutated-gliomas-using-two-dimensional-localized-correlation-spectroscopy-2d-l-cosy-at-7-tesla
#11
Gaurav Verma, Suyash Mohan, MacLean P Nasrallah, Steven Brem, John Y K Lee, Sanjeev Chawla, Sumei Wang, Rajakumar Nagarajan, M Albert Thomas, Harish Poptani
BACKGROUND: Mutations in the isocitrate dehydrogenase enzyme are present in a majority of lower-grade gliomas and secondary glioblastomas. This mis-sense mutation results in the neomorphic reduction of isocitrate dehydrogenase resulting in an accumulation of the "oncometabolite" 2-hydroxyglutarate (2HG). Detection of 2HG can thus serve as a surrogate biomarker for these mutations, with significant translational implications including improved prognostication. Two dimensional localized correlated spectroscopy (2D L-COSY) at 7T is a highly-sensitive non-invasive technique for assessing brain metabolism...
September 22, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27651038/a-novel-sucla2-mutation-presenting-as-a-complex-childhood-movement-disorder
#12
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while (1)H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts...
September 20, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27650626/creatine-deficiency-syndrome-could-be-missed-easily-a-case-report-of-guanidinoacetate-methyltransferase-deficiency-presented-with-neurodevelopmental-delay-seizures-and-behavioral-changes-but-normal-structural-mri
#13
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27635086/hyperpolarized-13c-metabolic-mri-of-the-human-heart-initial-experience
#14
Charles H Cunningham, Justin Y Lau, Albert P Chen, Benjamin J Geraghty, William J Perks, Idan Roifman, Graham A Wright, Kim A Connelly
RATIONALE: Altered cardiac energetics is known to play an important role in the progression towards heart failure. A non-invasive method for imaging metabolic markers that could be used in longitudinal studies would be useful for understanding therapeutic approaches that target metabolism. OBJECTIVE: To demonstrate the first hyperpolarized (13)C metabolic magnetic resonance imaging (MRI) of the human heart. METHODS AND RESULTS: Four healthy subjects underwent conventional proton cardiac MRI followed by (13)C imaging and spectroscopic acquisition immediately following intravenous administration of a 0...
September 15, 2016: Circulation Research
https://www.readbyqxmd.com/read/27580595/perioperative-erythropoietin-protects-the-cns-against-ischemic-lesions-in-patients-after-open-heart-surgery
#15
Nikola Lakič, Miha Mrak, Miha Šušteršič, Peter Rakovec, Matjaž Bunc
AIM: The aim of this study was to establish erythropoietin as a protective factor against brain ischemia during open heart surgery. METHODS: A total of 36 consecutive patients scheduled for revascularization heart surgery were included in the study. Of the patients 18 received 3 intravenous doses of recombinant human erythropoietin (rHuEpo, 24,000 IU) and 18 patients received a placebo. Magnetic resonance imaging (MRI) to detect new brain ischemic lesions was performed...
August 31, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27576874/association-of-early-changes-in-1h-mrsi-parameters-with-survival-for-patients-with-newly-diagnosed-glioblastoma-receiving-a-multimodality-treatment-regimen
#16
Sarah J Nelson, Achuta K Kadambi, Ilwoo Park, Yan Li, Jason Crane, Marram Olson, Annette Molinaro, Ritu Roy, Nicholas Butowski, Soonmee Cha, Susan Chang
BACKGROUND: The heterogeneous biology of glioblastoma (GBM) emphasizes the need for imaging methods to assess tumor burden and assist in evaluating individual patients. The purpose of this study was to investigate early changes in metrics from 3D (1)H magnetic resonance spectroscopic imaging (MRSI) data, compare them with anatomic lesion volumes, and determine whether they were associated with survival for patients with newly diagnosed GBM receiving a multimodality treatment regimen. METHODS: Serial MRI and MRSI scans provided estimates of anatomic lesion volumes and levels of choline, creatine, N-acetylaspartate, lactate, and lipid...
August 30, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/27574709/novel-mutation-in-mitochondrial-dna-in-2-siblings-with-leigh-syndrome
#17
Aravindhan Veerapandiyan, Amit Chaudhari, Christin M Traba, Xue Ming
Leigh syndrome is clinically and genetically heterogeneous, associated with mutations in mitochondrial and nuclear genes.(1) Diagnostic criteria include progressive disorder with motor and intellectual delay/regression; signs and symptoms of brainstem and/or basal ganglia disease; raised lactate concentration in blood and/or CSF; and one or more of the following: (1) characteristic features on neuroimaging (bilateral symmetrical hyperintensities in brainstem, basal ganglia, dentate nuclei, and optic nerves on T2-weighted MRI); (2) typical neuropathologic changes; and (3) typical neuropathology in a similarly affected sibling...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27571996/lethal-neonatal-ltbl-associated-with-biallelic-ears2-variants-case-report-and-review-of-the-reported-neuroradiological-features
#18
Renata Oliveira, Ewen W Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F Chinnery, Luísa Diogo, Paula Garcia, Robert W Taylor
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined respiratory chain deficiency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and progressive hyperlactacidaemia with lactic acidosis, liver dysfunction and encephalopathy and died at the age of 5 months...
August 30, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27553589/mri-and-spectroscopy-in-near-term-neonates-with-perinatal-asphyxia-and-therapeutic-hypothermia
#19
Thomas Alderliesten, Linda S de Vries, Liza Staats, Ingrid C van Haastert, Lauren Weeke, Manon J N L Benders, Corine Koopman-Esseboom, Floris Groenendaal
BACKGROUND: Previous studies have demonstrated the association of abnormalities on diffusion-weighted MRI (DW-MRI) and proton magnetic resonance spectroscopy ((1)H-MRS) in infants with perinatal asphyxia. The use of therapeutic hypothermia might change this association. AIM: To study the association between DW-MRI and (1)H-MRS and outcome after perinatal asphyxia and therapeutic hypothermia in infants with a gestational age of ≥36 weeks. PATIENTS AND METHODS: Infants with perinatal asphyxia and therapeutic hypothermia (n=88) were included when an MR examination was performed within 7 days after birth...
August 23, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/27503020/clinical-and-molecular-characteristics-in-100-chinese-pediatric-patients-with-m-3243a-g-mutation-in-mitochondrial-dna
#20
Chang-Yu Xia, Yu Liu, Hui Liu, Yan-Chun Zhang, Yi-Nan Ma, Yu Qi
BACKGROUND: Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements. Variable clinical features present a major challenge in pediatric diagnoses. We summarized the clinical spectrum of m.3243A>G mutation in Chinese pediatric patients, to define the common clinical manifestations and study the correlation between heteroplasmic degree of the mutation and clinical severity of the disease. METHODS: Clinical data of one-hundred pediatric patients with symptomatic mitochondrial disease harboring m...
August 20, 2016: Chinese Medical Journal
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