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https://www.readbyqxmd.com/read/28329084/obstructive-sleep-apnea-is-associated-with-early-but-possibly-modifiable-alzheimer-s-disease-changes
#1
Claudio Liguori, Nicola Biagio Mercuri, Francesca Izzi, Andrea Romigi, Alberto Cordella, Giuseppe Sancesario, Fabio Placidi
Study Objectives: Obstructive sleep apnea (OSA) is a common sleep disorder. Actually, literature lacks studies examining sleep, cognition, and Alzheimer's Disease (AD) cerebrospinal-fluid biomarkers in OSA patients. Therefore, we firstly studied cognitive performances, polysomnographic sleep, and CSF β-amyloid, tau proteins and lactate levels in patients affected by subjective cognitive impairment (SCI) divided in three groups: OSA patients (showing an Apnea-Hypopnea Index - AHI ≥15/h), controls (showing an AHI<15/h), and patients treating OSA by continuous positive airway pressure (CPAP)...
January 28, 2017: Sleep
https://www.readbyqxmd.com/read/28327992/cyst-fluid-from-cystic-malignant-brain-tumors-a-reservoir-of-nutrients-including-growth-factor-like-nutrients-for-tumor-cells
#2
Daniel Dahlberg, Eduard A Struys, Erwin E Jansen, Lars Mørkrid, Øivind Midttun, Bjørnar Hassel
BACKGROUND: Brain tumors may have cysts, whose content of nutrients could influence tumor cell microenvironment and growth. OBJECTIVE: To measure nutrients in cyst fluid from glioblastoma multiforme (GBM) and metastatic brain tumors. METHODS: Quantification of nutrients in cyst fluid from 12 to 18 GBMs and 4 to 10 metastatic brain tumors. RESULTS: GBM cysts contained glucose at 2.2 mmol/L (median value; range <0.8-3...
January 25, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28324109/sex-specific-life-course-changes-in-the-neuro-metabolic-phenotype-of-glut3-null-heterozygous-mice-ketogenic-diet-ameliorates-electroencephalographic-seizures-and-improves-sociability
#3
Yun Dai, Yuanzi Zhao, Masatoshi Tomi, Bo-Chul Shin, Shanthie Thamotharan, Andrey Mazarati, Raman Sankar, Elizabeth A Wang, Carlos Cepeda, Michael S Levine, Jingjing Zhang, Andrew Frew, Jeffry R Alger, Peter Clark, Monica Sondhi, Sudatip Kositamongkol, Leah Leibovitch, Sherin U Devaskar
We tested the hypothesis that exposure of glut3+/- mice to a ketogenic diet ameliorates autism-like features which includes aberrant behavior and electrographic seizures. We first investigated the life course sex-specific changes in basal plasma-CSF-brain metabolic profile, brain glucose transport/uptake, glucose and monocarboxylate transporter proteins, and ATP in the presence or absence of systemic insulin administration. Glut3+/- male but not female mice (5m of age) displayed reduced CSF glucose/lactate concentrations with no change in brain Glut1, Mct2, glucose uptake or ATP...
January 24, 2017: Endocrinology
https://www.readbyqxmd.com/read/28298047/development-of-a-prediction-rule-for-diagnosing-postoperative-meningitis-a-cross-sectional-study
#4
Olga Helena Hernández Ortiz, Héctor Iván García García, Fabián Muñoz Ramírez, Juan Sebastián Cardona Flórez, Bladimir Alejandro Gil Valencia, Salvador Ernesto Medina Mantilla, María Juliana Moreno Ochoa, Jorge Eliécer Sará Ochoa, Fabián Jaimes
OBJECTIVE Diagnosing nosocomial meningitis (NM) in neurosurgical patients is difficult. The standard CSF test is not optimal and when it is obtained, CSF cultures are negative in as many as 70% of cases. The goal of this study was to develop a diagnostic prediction rule for postoperative meningitis using a combination of clinical, laboratory, and CSF variables, as well as risk factors (RFs) for CNS infection. METHODS A cross-sectional study was performed in 4 intensive care units in Medellín, Colombia. Patients with a history of neurosurgical procedures were selected at the onset of febrile symptoms and/or after an increase in acute-phase reactants...
March 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28253907/systemic-pro-inflammatory-cytokine-status-following-therapeutic-hypothermia-in-a-piglet-hypoxia-ischemia-model
#5
Eridan Rocha-Ferreira, Dorottya Kelen, Stuart Faulkner, Kevin D Broad, Manigandan Chandrasekaran, Áron Kerenyi, Takenori Kato, Alan Bainbridge, Xavier Golay, Mark Sullivan, Boris W Kramer, Nicola J Robertson
BACKGROUND: Inflammatory cytokines are implicated in the pathogenesis of perinatal hypoxia-ischemia (HI). The influence of hypothermia (HT) on cytokines after HI is unclear. Our aim was to assess in a piglet asphyxia model, under normothermic (NT) and HT conditions: (i) the evolution of serum cytokines over 48 h and (ii) cerebrospinal fluid (CSF) cytokine levels at 48 h; (iii) serum pro/anti-inflammatory cytokine profile over 48 h and (iv) relation between brain injury measured by magnetic resonance spectroscopy (MRS) and brain TUNEL positive cells with serum cytokines, serum pro/anti-inflammatory cytokines and CSF cytokines...
March 3, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28225808/epileptogenesis-in-organotypic-hippocampal-cultures-has-limited-dependence-on-culture-medium-composition
#6
Jing Liu, Yero Saponjian, Mark M Mahoney, Kevin J Staley, Yevgeny Berdichevsky
Rodent organotypic hippocampal cultures spontaneously develop epileptiform activity after approximately 2 weeks in vitro and are increasingly used as a model of chronic post-traumatic epilepsy. However, organotypic cultures are maintained in an artificial environment (culture medium), which contains electrolytes, glucose, amino acids and other components that are not present at the same concentrations in cerebrospinal fluid (CSF). Therefore, it is possible that epileptogenesis in organotypic cultures is driven by these components...
2017: PloS One
https://www.readbyqxmd.com/read/28202214/lethal-neonatal-case-and-review-of-primary-short-chain-enoyl-coa-hydratase-sceh-deficiency-associated-with-secondary-lymphocyte-pyruvate-dehydrogenase-complex-pdc-deficiency
#7
Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Rhona M Jack, Alexander Miron, George Grahame, Suzanne D DeBrosse, Charles L Hoppel, Douglas S Kerr, Ronald J A Wanders
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A identified by whole exome sequencing of proband and parents. SCEH deficiency was confirmed with very low SCEH activity in fibroblasts and nearly absent immunoreactivity of SCEH. The patient had a severe neonatal course with elevated blood and cerebrospinal fluid lactate and pyruvate concentrations, high plasma alanine and slightly low plasma cystine...
February 2, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28202118/-clinical-and-laboratory-features-of-macrophage-activation-syndrome
#8
Li Guo, Mei-Ping Lu, Gui-Juan Dong, Li-Ping Teng, Yi-Ping Xu, Li-Xia Zou, Qi Zheng
OBJECTIVE: To study the clinical and laboratory features of macrophage activation syndrome (MAS) at the early stage of diagnosis, and to explore a method for early identification of MAS. METHODS: A retrospective analysis was performed for the demographic data, clinical and laboratory features, and treatment outcomes of 21 MAS patients. RESULTS: Of the 21 MAS patients, 14 had systemic juvenile idiopathic arthritis, 5 had Kawasaki disease (KD), and 2 had connective tissue disease (CTD) as primary diseases...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28150333/varicella-zoster-virus-meningitis-under-ustekinumab-because-of-plaque-psoriasis
#9
Claudia Stöllberger, Josef Finsterer
Ustekinumab, a monoclonal antibody that binds to the shared p40 subunit of interleukin (IL)-12 and IL-23, is approved in the USA and Europe for moderate to severe plaque psoriasis. There are concerns that biologic treatments like ustekinumab may lead to an increased rate of infections. We report a 77-year-old woman who developed varicella zoster virus meningitis 8 weeks after initiation of ustekinumab therapy because of plaque psoriasis. She presented clinically with sudden onset of fatigue, vertigo, nausea and epileptic seizures...
February 2, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28059631/acute-necrotizing-encephalopathy-causing-human-bocavirus
#10
Ayse Betul Ergul, Umit Altug, Kursad Aydin, Ahmet Sami Guven, Yasemin Altuner Torun
Acute necrotizing encephalopathy is characterized by multiple, symmetrical lesions involving the thalamus, brainstem, cerebellum, and white matter and develops secondarily to viral infections. Influenza viruses are the most common etiological agents. Here, we present the first case of acute necrotizing encephalopathy to develop secondarily to human bocavirus. A 3-year-old girl presented with fever and altered mental status. She had had a fever, cough, and rhinorrhea for five days. The patient was admitted to the intensive care unit with an initial diagnosis of encephalitis when vomiting, convulsions, and loss of consciousness developed...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28025469/mr-spectroscopy-in-patients-with-hereditary-diffuse-leukoencephalopathy-with-spheroids-and-asymptomatic-carriers-of-colony-stimulating-factor-1-receptor-mutation
#11
Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji, Masafumi Harada
PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease. MATERIALS AND METHODS: In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent...
December 26, 2016: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/28018440/glucose-transport-1-deficiency-presenting-as-infantile-spasms-with-a-mutation-identified-in-exon-9-of-slc2a1
#12
Hyun Hee Lee, Yun Jung Hur
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#13
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27989324/mutations-in-mdh2-encoding-a-krebs-cycle-enzyme-cause-early-onset-severe-encephalopathy
#14
Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C Genin, Konstantina Fragaki, Catharina L M Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L I van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G M de Sain-van der Velde, Judith J M Jans, Jeanne Amiel, Ziga Avsec, Christian Mertes, Tobias B Haack, Tim Strom, Thomas Meitinger, Penelope E Bonnen, Robert W Taylor, Julien Gagneur, Peter M van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A Fuchs, Véronique Paquis-Flucklinger
MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and elevated lactate in the blood and cerebrospinal fluid. Functional studies in fibroblasts from affected subjects showed both an apparently complete loss of MDH2 levels and MDH2 enzymatic activity close to null...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27940755/lysine-restriction-and-pyridoxal-phosphate-administration-in-a-nadk2-patient
#15
Frederic Tort, Olatz Ugarteburu, Maria Angeles Torres, Judit García-Villoria, Marisa Girós, Angeles Ruiz, Antonia Ribes
We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, and hypoplasia of the corpus callosum. At birth, axial hypotonia, uncoordinated movements, microcephaly, and generalized cerebellar atrophy were detected. Metabolic investigations revealed high lysine, lactate, and pipecolic acid levels in blood and cerebrospinal fluid. Pyruvate carboxylase and pyruvate dehydrogenase activity in fibroblasts were normal...
November 2016: Pediatrics
https://www.readbyqxmd.com/read/27900006/the-effect-of-activated-m%C3%AF-1-on-%C3%AE-%C3%AE-t-cell-mediated-killing-of-gastric-cancer-cells-in-vitro
#16
Wu Xia, Sun Han, Zhang Bao, Jia Fangyuan, Wu Ping
A clear understanding of the interactions between classically activated macrophages (Mϕ1) and γδT cells may improve current therapeutic approaches, including that of immunotherapy for treating certain types of cancer. The present study aimed to expand the current knowledge by showing the effect of culture supernatants of Mϕ1 on the proliferation, cell surface marker expression and tumor suppression effects of γδT cells, and by exploring the potential mechanisms involved. In vitro, Mϕ1 were cultured by GM-CSF and IFN-γ...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27884750/methylprednisolone-improves-lactate-metabolism-through-reduction-of-elevated-serum-lactate-in-rat-model-of-multiple-sclerosis
#17
Majid Ghareghani, Amir Ghanbari, Shima Dokoohaki, Naser Farhadi, Seyed Mojtaba Hosseini, Reza Mohammadi, Heibatollah Sadeghi
BACKGROUND: Some studies have demonstrated elevated concentrations of lactate both in the cerebrospinal fluid (CSF) and blood samples of multiple sclerosis (MS) patients as a pathological condition. We designed an experimental study first to investigate the serum level of lactate as a biomarker of MS progression and also to investigate the effect of methylprednisolone on serum lactate. METHODS: Experimental autoimmune encephalomyelitis (EAE) was inducted in Lewis rats, and then rats were treated intraperitoneally with methylprednisolone (30mg/kg/d), at the disease onset, and the clinical scores were recorded...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27849433/differential-regulation-of-macrophage-glucose-metabolism-by-macrophage-colony-stimulating-factor-and-granulocyte-macrophage-colony-stimulating-factor-implications-for-18-f-fdg-pet-imaging-of-vessel-wall-inflammation
#18
Sina Tavakoli, John D Short, Kevin Downs, Huynh Nga Nguyen, Yanlai Lai, Wei Zhang, Paul Jerabek, Beth Goins, Mehran M Sadeghi, Reto Asmis
Purpose To determine the divergence of immunometabolic phenotypes of macrophages stimulated with macrophage colony-stimulating factor (M-CSF) and granulocyte-M-CSF (GM-CSF) and its implications for fluorine 18 ((18)F) fluorodeoxyglucose (FDG) imaging of atherosclerosis. Materials and Methods This study was approved by the animal care committee. Uptake of 2-deoxyglucose and various indexes of oxidative and glycolytic metabolism were evaluated in nonactivated murine peritoneal macrophages (MΦ0) and macrophages stimulated with M-CSF (MΦM-CSF) or GM-CSF (MΦGM-CSF)...
April 2017: Radiology
https://www.readbyqxmd.com/read/27792889/salsolinol-a-potential-inhibitor-of-the-gonadotropic-axis-in-sheep-during-lactation
#19
E Marciniak, M Hasiec, F Fülöp, T Misztal
This study tested the hypothesis that salsolinol, a derivative of dopamine, affects GnRH and LH secretion in lactating sheep. In the in vivo experiment, the structural analogue of salsolinol, 1-methyl-3,4-dihydroisoquinoline (1-MeDIQ), was infused into the infundibular nucleus-median eminence of sheep at the fifth wk of lactation to antagonize salsolinol's action. Simultaneously, cerebrospinal fluid from the third brain ventricle, to determine GnRH concentration, and plasma samples, to measure LH concentration, were collected...
January 2017: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/27756256/clinical-presentations-diagnosis-mortality-and-prognostic-markers-of-tuberculous-meningitis-in-vietnamese-children-a-prospective-descriptive-study
#20
Nguyen Duc Bang, Maxine Caws, Thai Thanh Truc, Tran Ngoc Duong, Nguyen Huy Dung, Dang Thi Minh Ha, Guy E Thwaites, Doortje Heemskerk, Joel Tarning, Laura Merson, Pham Van Toi, Jeremy J Farrar, Marcel Wolbers, Thomas Pouplin, Jeremy N Day
BACKGROUND: Tuberculous meningitis in adults is well characterized in Vietnam, but there are no data on the disease in children. We present a prospective descriptive study of Vietnamese children with TBM to define the presentation, course and characteristics associated with poor outcome. METHODS: A prospective descriptive study of 100 consecutively admitted children with TBM at Pham Ngoc Thach Hospital, Ho Chi Minh City. Cox and logistic regression were used to identify factors associated with risk of death and a combined endpoint of death or disability at treatment completion...
October 18, 2016: BMC Infectious Diseases
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