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https://www.readbyqxmd.com/read/28741715/first-report-of-carglumic-acid-in-a-patient-with-citrullinemia-type-1-argininosuccinate-synthetase-deficiency
#1
E Kose, P Kuyum, B Aksoy, J Häberle, N Arslan, Y Ozturk
WHAT IS KNOWN AND OBJECTIVE: Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. CASE DESCRIPTION: A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p...
July 25, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28727610/the-metabolopathy-of-tissue-injury-hemorrhagic-shock-and-resuscitation-in-a-rat-model
#2
Anne L Slaughter, Geoffrey R Nunns, Angelo D'Alessandro, Anirban Banerjee, Kirk C Hansen, E E Moore, Christopher C Silliman, Travis Nemkov, Hunter B Moore, Miguel Fragoso, Kiara Leasia, Erik D Peltz
INTRODUCTION: The metabolic consequences of trauma induce significant clinical pathology. In this study we evaluate the independent, metabolic contributions of tissue injury (TI) and combined tissue injury and hemorrhagic shock (TI / HS) using MS-metabolomics in a controlled animal model of critical injury. METHODS: Sprague-Dawley rats (n = 14) underwent TI alone or TI / HS, followed by resuscitation with normal saline and shed blood. Plasma was collected (baseline, post-laparotomy, post-HS, post-resuscitation) for Ultra High Pressure Liquid Chromatography (UHPLC) MS-metabolomics...
July 19, 2017: Shock
https://www.readbyqxmd.com/read/28725569/psychiatric-adult-onset-of-urea-cycle-disorders-a-case-series
#3
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28723573/proteomic-and-metabolomic-characterization-of-a-mammalian-cellular-transition-from-quiescence-to-proliferation
#4
Ho-Joon Lee, Mark P Jedrychowski, Arunachalam Vinayagam, Ning Wu, Ng Shyh-Chang, Yanhui Hu, Chua Min-Wen, Jodene K Moore, John M Asara, Costas A Lyssiotis, Norbert Perrimon, Steven P Gygi, Lewis C Cantley, Marc W Kirschner
There exist similarities and differences in metabolism and physiology between normal proliferative cells and tumor cells. Once a cell enters the cell cycle, metabolic machinery is engaged to facilitate various processes. The kinetics and regulation of these metabolic changes have not been properly evaluated. To correlate the orchestration of these processes with the cell cycle, we analyzed the transition from quiescence to proliferation of a non-malignant murine pro-B lymphocyte cell line in response to IL-3...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28718798/co-expression-network-and-pathway-analyses-reveal-important-modules-of-mirnas-regulating-milk-yield-and-component-traits
#5
Duy N Do, Pier-Luc Dudemaine, Ran Li, Eveline M Ibeagha-Awemu
Co-expression network analyses provide insights into the molecular interactions underlying complex traits and diseases. In this study, co-expression network analysis was performed to detect expression patterns (modules or clusters) of microRNAs (miRNAs) during lactation, and to identify miRNA regulatory mechanisms for milk yield and component traits (fat, protein, somatic cell count (SCC), lactose, and milk urea nitrogen (MUN)) via miRNA target gene enrichment analysis. miRNA expression (713 miRNAs), and milk yield and components (Fat%, Protein%, lactose, SCC, MUN) data of nine cows at each of six different time points (day 30 (D30), D70, D130, D170, D230 and D290) of an entire lactation curve were used...
July 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28717103/metabolomics-of-an-in-vitro-liver-model-containing-primary-hepatocytes-assembling-around-an-endothelial-cell-network-comparative-study-on-the-metabolic-stability-and-the-effect-of-acetaminophen-treatment
#6
Yu Toyoda, Kasumi Kashikura, Tomoyoshi Soga, Yoh-Ichi Tagawa
Recently, a novel culture system consisting of primary hepatocytes structured over a network of endothelial cells on the Engelbreth-Holm-Swarm (EHS) gel has been reported. This in vitro liver model on the EHS gel (IVLEHS) has been shown to maintain the expression of hepatic genes and their functional activity. Moreover, the IVLEHS was more sensitive to xenobiotics than hepatocyte monocultures, suggesting the potential utility of this culture system for compound hepatotoxicity screening. However, the effect of this three-dimensional structure formation on the cellular metabolic profile of hepatocytes in the IVLEHS is not well understood...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#7
Nigel F Delaney, Rohit Sharma, Laura Tadvalkar, Clary B Clish, Ronald G Haller, Vamsi K Mootha
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28713420/modeling-the-metabolism-of-arabidopsis-thaliana-application-of-network-decomposition-and-network-reduction-in-the-context-of-petri-nets
#8
Ina Koch, Joachim Nöthen, Enrico Schleiff
Motivation:Arabidopsis thaliana is a well-established model system for the analysis of the basic physiological and metabolic pathways of plants. Nevertheless, the system is not yet fully understood, although many mechanisms are described, and information for many processes exists. However, the combination and interpretation of the large amount of biological data remain a big challenge, not only because data sets for metabolic paths are still incomplete. Moreover, they are often inconsistent, because they are coming from different experiments of various scales, regarding, for example, accuracy and/or significance...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28704842/analysis-of-metabolomic-profile-of-fermented-orostachys-japonicus-a-berger-by-capillary-electrophoresis-time-of-flight-mass-spectrometry
#9
Gitishree Das, Jayanta Kumar Patra, Sun-Young Lee, Changgeon Kim, Jae Gyu Park, Kwang-Hyun Baek
Microbial cell performance in food biotechnological processes has become an important concern for improving human health worldwide. Lactobacillus plantarum, which is widely distributed in nature, is a lactic acid bacterium with many industrial applications for fermented foods or functional foods (e.g., probiotics). In the present study, using capillary electrophoresis time of flight mass spectrometry, the metabolomic profile of dried Orostachys japonicus A. Berger, a perennial medicinal herb with L. plantarum was compared with that of O...
2017: PloS One
https://www.readbyqxmd.com/read/28702794/soil-anammox-community-structure-in-different-land-use-soils-treatment-with-13-c-urea-as-determined-by-analysis-of-phospholipid-fatty-acids
#10
Huifang Zhou, Qichun Zhang, Chao Gu, Salma Jabeen, Jiangye Li, Hongjie Di
The anaerobic ammonium oxidation (anammox) process is globally an important nitrogen-cycling process mediated by specialized microbes. However, still little information is documented about anammox microbial community structure under agricultural soils. The anaerobic incubation experiment was conducted to study the impacts of different land use soils fertilized by (13)C-urea on the activity and diversity of anammox bacteria using stable isotope to probe the phospholipid fatty acid (PLFA-SIP). The (13)C was preferentially incorporated in ratios PLFAs 16:1ω7c, 16:1ω5c, and 16:0...
July 12, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28690671/association-between-the-blood-concentrations-of-ammonia-and-carnitine-amino-acid-of-schizophrenic-patients-treated-with-valproic-acid
#11
Masazumi Ando, Hideaki Amayasu, Takahiro Itai, Hisahiro Yoshida
BACKGROUND: Administration of valproic acid (VPA) is complicated with approximately 0.9% of patients developing hyperammonemia, but the pathogenesis of this adverse effect remains to be clarified. The aim of the present study was to search for mechanisms associated with VPA-induced hyperammonemia in the light of changes in serum amino acids concentrations associated with the urea cycle of schizophrenic patients. METHOD: Blood samples (10 mL) were obtained from 37 schizophrenic patients receiving VPA for the prevention of violent behaviors in the morning after overnight fast...
2017: BioPsychoSocial Medicine
https://www.readbyqxmd.com/read/28680580/plasma-acylcarnitines-are-associated-with-pulmonary-hypertension
#12
Nancy Luo, Damian Craig, Olga Ilkayeva, Michael Muehlbauer, William E Kraus, Christopher B Newgard, Svati H Shah, Sudarshan Rajagopal
Quantifying metabolic derangements in pulmonary hypertension (PH) by plasma metabolomics could identify biomarkers useful for diagnosis and treatment. The objective of this paper is to test the hypotheses that circulating metabolites are differentially expressed in PH patients compared with controls and among different hemodynamic subtypes of PH associated with left heart disease. We studied patients enrolled in the CATHGEN biorepository with PH (right heart catheterization mPAP ≥ 25 mmHg; n = 280)...
March 2017: Pulmonary Circulation
https://www.readbyqxmd.com/read/28676444/the-expression-of-transglutaminase-2-tg-2-in-oral-squamous-cell-carcinoma-and-its-clinical-significance
#13
Elva Lim, Cheng-Hsien Wu, Sin-Hua Moi, Man-Tin Lui, Cheng-Hong Yang, Cheng-Chieh Yang
BACKGROUND: Glutamine has a very important role in the human body, including pH balance in an acidic environment, as well as supporting the TCA cycle in cancer cell growth. However, the expression of transglutaminase-2 (TG-2) in oral cancer growth related to renal function is unknown. Here we examined TG-2 and its expression as a prognostic tool. METHODS: Fifty-six oral squamous cell carcinoma (OSCC) tissues were collected with the inclusion of tumor in any region of oral area, and patients with creatinine (Cr) and blood urea nitrogen (BUN) results...
July 1, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28676198/treatment-of-gabapentin-toxicity-with-peritoneal-dialysis-assessment-of-gabapentin-clearance
#14
Hisham Ibrahim, Zachary Oman, Matthew Schuelke, John C Edwards
Gabapentin is almost exclusively cleared by the kidney and thus presents challenges in patients with kidney failure. Gabapentin is known to be effectively cleared by hemodialysis, but the efficiency of clearance by peritoneal dialysis (PD) has not been previously described. We report a case of gabapentin toxicity in a patient on long-term PD who was treated with continuous automated cycling PD. We find that continuous PD provides significant clearance of gabapentin. With 2-L exchanges every 2 hours, we document an apparent elimination half-life of 41...
July 1, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28672815/differential-metabolic-profiles-during-the-developmental-stages-of-plant-parasitic-nematode-meloidogyne-incognita
#15
Parthiban Subramanian, Byung-Ju Oh, Vimalraj Mani, Jae Kook Lee, Chang-Muk Lee, Joon-Soo Sim, Ja Choon Koo, Bum-Soo Hahn
Meloidogyne incognita is a common root-knot nematode with a wide range of plant hosts. We aimed to study the metabolites produced at each stage of the nematode life cycle to understand its development. Metabolites of Meloidogyne incognita were extracted at egg, J2, J3, J4, and female stages and 110 metabolites with available standards were quantified using CE-TOF/MS. Analyses indicated abundance of stage-specific metabolites with the exception of J3 and J4 stages which shared similar metabolic profiles. The egg stage showed increased abundance in glycolysis and energy metabolism related metabolites while the J2 metabolites are associated with tissue formation, motility, and neurotransmission...
June 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28671437/expanded-newborn-screening-information-and-resources-for-the-family-physician
#16
David Glenn Weismiller
Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing...
June 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/28662597/biochar-application-mode-influences-nitrogen-leaching-and-nh3-volatilization-losses-in-a-rice-paddy-soil-irrigated-with-n-rich-wastewater
#17
Haijun Sun, Ju Min, Hailin Zhang, Yanfang Feng, Kouping Lu, Weiming Shi, Min Yu, Xuewen Li
Biochar influenced nitrogen (N) cycling in rice paddy soils. However, how biochar application mode impacting N leaching, ammonia (NH3) volatilization, rice grain yield and N use efficiency (NUE) is not well understood. Therefore, a field experiment was conducted to evaluate those impacts in a rice paddy soil received 225 kg N ha(-1) from either urea or N-rich wastewater. One treatment received 10 t ha(-1) biochar with the basal fertilization, and the other received same total amount of biochar but split applied with the 3 split N applications with same ratio as N fertilizer split ratio (40%, 30% and 30%)...
June 30, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28659245/newborn-screening-for-hyperargininemia-due-to-arginase-1-deficiency
#18
Bradford L Therrell, Robert Currier, David Lapidus, Meredith Grimm, Stephen D Cederbaum
Hyperargininemia caused by Arginase 1 deficiency is a rare disorder of the urea cycle that can be diagnosed by elevation of arginine in newborn screening blood spots when analyzed by tandem mass spectrometry. Hyperargininemia is currently included as a secondary target on the U.S. Recommended Uniform Screening Panel, which directly influences state-based newborn screening. Because of the apparent low disease frequency and lack of case detection and treatment data, detailed attention has not been given to a model newborn screening algorithm including appropriate analytical cutoff values for disease indicators...
June 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28652377/causal-genetic-variation-underlying-metabolome-differences
#19
Devjanee Swain-Lenz, Igor Nikolisky, Jiye Cheng, Priya Sudarsanam, Darcy Nayler, Max V Staller, Barak A Cohen
An ongoing challenge in biology is to predict the phenotypes of individuals from their genotypes. Genetic variants that cause disease often change an individual's total metabolite profile, or metabolome. In light of our extensive knowledge of metabolic pathways, genetic variants that alter the metabolome may help predict novel phenotypes. To link genetic variants to changes in the metabolome, we studied natural variation in the yeast Saccharomyces cerevisiae We used an untargeted mass spectrometry method to identify dozens of metabolite Quantitative Trait Loci (mQTL), genomic regions containing genetic variation that control differences in metabolite levels between individuals...
June 26, 2017: Genetics
https://www.readbyqxmd.com/read/28651373/sex-dependent-differences-in-liver-and-gut-metabolomic-profiles-with-acarbose-and-calorie-restriction-in-c57bl-6-mice
#20
Victoria K Gibbs, Rachel A Brewer, Nathan D Miyasaki, Amit Patki, Daniel L Smith
Acarbose, an alpha-glucosidase inhibitor used in treating type 2 diabetes, impairs complex carbohydrate digestion and absorption and extends lifespan in mice (without a requisite reduction in food intake). To assess sex-differential effects coincident with calorie restriction versus a non-restricted longevity enhancing intervention, we evaluated the metabolite profiles (by LC/MS) from livers and cecal contents of C57BL/6J mice (n=4/sex/group,) which were maintained for 10 months under one of three diet treatments: ad libitum control diet (CON), ad libitum control diet containing 0...
June 23, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
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