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https://www.readbyqxmd.com/read/28059631/acute-necrotizing-encephalopathy-causing-human-bocavirus
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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)...
November 16, 2016: Radiology
https://www.readbyqxmd.com/read/27792889/salsolinol-a-potential-inhibitor-of-the-gonadotropic-axis-in-sheep-during-lactation
#10
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
#11
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
https://www.readbyqxmd.com/read/27728386/csf-lactate-as-prognostic-marker-in-tubercular-meningitis
#12
Vijay Singhal, Zeba Siddiqi
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27714889/comparison-between-proton-magnetic-resonance-spectroscopy-findings-in-dogs-with-tick-borne-encephalitis-and-clinically-normal-dogs
#13
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/27709505/a-novel-thymidine-phosphorylase-mutation-in-a-chinese-mngie-patient
#14
Hui-Fang Wang, Juan Wang, Yan-Ling Wang, Jian-Jian Fan, Gui-Lin Mo, Feng-Yin Gong, Zhi-Ming Chai, Jin Zhang, Hua-Xing Meng, Chang-Xin Li, Jun-Hong Guo, Chuan-Qiang Pu
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. We studied the clinical and biochemical characteristics of a family with MNGIE. The proband was a 48-year-old male presenting with diarrhea and progressive weight loss. He also had ptosis and exhibited eyeball fixation...
October 5, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27680221/a-case-of-cerebrotendinous-xanthomatosis-mimicking-the-clinical-phenotype-of-mitochondrial-disease-with-a-novel-frame-shift-mutation-c-43_44-delgg-in-cyp27a1-gene-exon-1
#15
Junpei Koge, Shintaro Hayashi, Hiroo Yamaguchi, Takahisa Tateishi, Hiroyuki Murai, Jun-Ichi Kira
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...
October 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27648689/hyperoxia-induces-inflammation-and-cytotoxicity-in-human-adult-cardiac-myocytes
#16
Christina Hafner, Jing Wu, Akos Tiboldi, Moritz Hess, Goran Mitulovic, Christoph Kaun, Konstantin Alexander Krychtiuk, Johann Wojta, Roman Ullrich, Eva Verena Tretter, Klaus Markstaller, Klaus Ulrich Klein
Supplemental oxygen (O2) is used as adjunct therapy in anesthesia, emergency and intensive care medicine. We hypothesized that excessive O2 levels (hyperoxia) can directly injure human adult cardiac myocytes (HACMs). HACMs obtained from the explanted hearts of transplantation patients were exposed to constant hyperoxia (95% O2), intermittent hyperoxia (alternating 10 min exposures to 5% and 95% O2), constant normoxia (21% O2), or constant mild hypoxia (5% O2) using a bioreactor. Changes in cell morphology, viability as assessed by lactate dehydrogenase (LDH) release and trypan blue (TB) staining, and secretion of vascular endothelial growth factor (VEGF), macrophage migration inhibitory factor (MIF), and various pro-inflammatory cytokines (interleukin, IL; chemokine C-X-C motif ligand, CXC; granulocyte-colony stimulating factor, G-CSF; intercellular adhesion molecule, ICAM; chemokine C-C motif ligand, CCL) were compared among treatment groups at baseline (0 h) and after 8 h, 24 h, and 72 h of treatment...
September 19, 2016: Shock
https://www.readbyqxmd.com/read/27634889/broadband-infrared-spectroscopy-for-non-contact-measurement-of-neurological-disease-biomarkers-in-cerebrospinal-fluid
#17
Michael Horosh, Haim Feldman, Avi Yablonovich, Michael A Firer, David Abookasis
Cerebrospinal fluid (CSF) is a clear and colorless biological fluid which circulates within brain ventricles (cavities), the spinal cord's central canal, the space between the brain and the spinal cord, as well as their protective coverings, the meninges. Cerebrospinal fluid contains different constituents, such as albumin and lactate, whose levels are used clinically as biomarkers of neurodegenerative disorders. In current clinical practice, analysis of CSF content for the diagnosis of central nervous system disorders requires an invasive procedure known as lumbar puncture or spinal tap...
September 15, 2016: Applied Spectroscopy
https://www.readbyqxmd.com/read/27618955/the-diagnostic-value-of-cerebrospinal-fluid-lactate-for-post-neurosurgical-bacterial-meningitis-a-meta-analysis
#18
Xiong Xiao, Yang Zhang, Liwei Zhang, Peng Kang, Nan Ji
BACKGROUND: Bacterial meningitis is not rare in post-neurosurgical patients. If patients are not treated promptly, the mortality rate can reach 20 to 50 %. The concentration of cerebrospinal fluid (CSF) lactate has been reported to be helpful in the diagnosis of bacterial meningitis; however, no systematic evaluations have investigated CSF from a postoperative perspective. In this study, we performed a systematic evaluation and meta-analysis of the efficacy of using CSF lactate concentrations in the diagnosis of post-neurosurgical bacterial meningitis...
September 13, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27616477/naxe-mutations-disrupt-the-cellular-nad-p-hx-repair-system-and-cause-a-lethal-neurometabolic-disorder-of-early-childhood
#19
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27614966/effects-of-shenfu-injection-on-cerebral-metabolism-in-a-porcine-model-of-cardiac-arrest
#20
Qin Yin, Cai-Jun Wu, Jun Yang, Chen-Chen Hang, Chun-Sheng Li
OBJECTIVE: To investigate the effects of Shenfu Injection (, SFI) on cerebral metabolism in a porcine model of cardiac arrest (CA). METHODS: Thirty Wuzhishan minipigs were randomly assigned to the control group (n=6), epinephrine group (EP group, n=12) and Sfigroup (n=12). After 8 min of untreated ventricular fifibrillation (VF), pigs in the EP group or Sfigroup were administered with either EP (0.02 mg/kg) or Sfi(1.0 mL/kg), respectively. After successful resuscitation, cerebrospinal fluid (CSF) levels of glucose, pyruvate, lactate, glutamate and glycerol were measured at 1, 6, 12 and 24 h after recover from spontaneous circulation (ROSC)...
September 10, 2016: Chinese Journal of Integrative Medicine
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