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Urine metabolic screen

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https://www.readbyqxmd.com/read/28089709/objective-assessment-of-dietary-patterns-by-use-of-metabolic-phenotyping-a-randomised-controlled-crossover-trial
#1
Isabel Garcia-Perez, Joram M Posma, Rachel Gibson, Edward S Chambers, Tue H Hansen, Henrik Vestergaard, Torben Hansen, Manfred Beckmann, Oluf Pedersen, Paul Elliott, Jeremiah Stamler, Jeremy K Nicholson, John Draper, John C Mathers, Elaine Holmes, Gary Frost
BACKGROUND: Accurate monitoring of changes in dietary patterns in response to food policy implementation is challenging. Metabolic profiling allows simultaneous measurement of hundreds of metabolites in urine, the concentrations of which can be affected by food intake. We hypothesised that metabolic profiles of urine samples developed under controlled feeding conditions reflect dietary intake and can be used to model and classify dietary patterns of free-living populations. METHODS: In this randomised, controlled, crossover trial, we recruited healthy volunteers (aged 21-65 years, BMI 20-35 kg/m(2)) from a database of a clinical research unit in the UK...
January 12, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28076917/multi-organ-dysfunction-due-to-bath-salts-are-we-aware-of-this-entity
#2
Rohith Valsalan, Benoj Varghese, Diya Soman, Jonathan Buckmaster, Steven Yew, David Cooper
Methylenedioxypyrovalerone (MDPV) is a synthetic, cathinone-derivative, central nervous system stimulant taken to produce a cocaine- or methamphetamine-like high. Physical manifestations include tachycardia, hypertension, arrhythmias, hyperthermia, sweating, rhabdomyolysis, hyperkalaemia, disseminated intravascular coagulation, oliguria and seizures. We report a patient who presented with severe metabolic acidosis, multi-organ dysfunction, rhabdomyolysis, hyperkalaemia and seizures. This case highlights that even though a urine drug screen for routine psychostimulant drugs is negative, clinicians need to be vigilant about the adverse effects of MDPV as a possible cause of multi-organ dysfunction...
January 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28063748/aspartylglucosaminuria-caused-by-a-novel-homozygous-mutation-in-the-aga-gene-was-identified-by-an-exome-first-approach-in-a-patient-from-japan
#3
Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, Ryuichi Mashima, Eri Sakai, Torayuki Okuyama
BACKGROUND: Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. CASE REPORT: We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6years...
January 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28053874/long-term-outcome-of-isobutyryl-coa-dehydrogenase-deficiency-diagnosed-following-an-episode-of-ketotic-hypoglycaemia
#4
S Santra, A Macdonald, M A Preece, R K Olsen, B S Andresen
Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old girl diagnosed with IBDD after developing hypoglycaemic encephalopathy (blood glucose 1.9 mmol/l) during an episode of rotavirus-induced gastroenteritis...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28044413/identification-of-metabolites-of-palmatine-in-rats-after-oral-administration-using-ultra-high-performance-liquid-chromatography-quadrupole-time-of-flight-mass-spectrometry
#5
Kun Wang, Liwei Chai, Liqin Ding, Feng Qiu
RATIONALE: Palmatine (PAL), a protopalmatine alkaloid, is an active constituent in a number of medicinal plants. In order to obtain a comprehensive and systematic metabolic profile of PAL, we investigated its metabolites in plasma, liver tissue, bile, urine, and feces samples after intragastrical administration to sprague-dawly rats with a dose of 100 mg/kg/day. METHODS: In this study, a rapid and sensitive method by ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC/Q-TOF/MS), and metabolynx(TM) software with mass defect filter (MDF) technique was developed for screening and identification of the metabolites...
January 3, 2017: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28042917/profiling-and-identification-of-epicatechin-metabolites-in-rats-using-ultra-high-performance-liquid-chromatography-coupled-with-linear-trap-orbitrap-mass-spectrometer
#6
Zhanpeng Shang, Fei Wang, Shengyun Dai, Jianqiu Lu, Xiaodan Wu, Jiayu Zhang
(-)-Epicatechin (EC), an optical antipode of (+)-catechin (C), possesses many potential significant health benefits. However, the in vivo metabolic pathway of EC has not been clarified yet. In this study, an efficient strategy based on ultra-high performance liquid chromatography coupled with linear ion trap-Orbitrap mass spectrometer was developed to profile and characterize EC metabolites in rat urine, feces, plasma, and various tissues. Meanwhile, post-acquisition data-mining methods including high-resolution extracted ion chromatogram (HREIC), multiple mass defect filters (MMDFs), and diagnostic product ions (DPIs) were utilized to screen and identify EC metabolites from HR-ESI-MS(1) to ESI-MS(n) stage...
January 2, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28018444/compound-heterozygous-mutations-of-acads-gene-in-newborn-with-short-chain-acyl-coa-dehydrogenase-deficiency-case-report-and-literatures-review
#7
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27956776/prevalence-of-ketosis-in-dairy-cows-in-milk-shed-areas-of-odisha-state-india
#8
Sangram Biswal, Dhruba Charan Nayak, Kautuk Kumar Sardar
AIM: The present study was conducted to ascertain the prevalence of ketosis in dairy cows in dairy herds, milksheds, and mixed population of milk cows selected randomly in milkshed areas of Odisha state, India. MATERIALS AND METHODS: The investigation was conducted in 280 private dairy herds with variable herd size of 10-15 cows comprising crossbred Jersey cows (CBJ), crossbred Holstein Friesian (CHF) cows, and indigenous local breeds. The analysis of urine (Rothera's test), milk (Ross test), and blood samples of 2760 test cows were conducted through qualitative assessment by Rothera's test and Ross test, respectively, for the presence of ketone bodies to screen the ketotic animals...
November 2016: Veterinary World
https://www.readbyqxmd.com/read/27938594/-clinical-biochemical-and-gene-mutation-characteristics-of-short-chain-acyl-coenzyme-a-dehydrogenase-deficiency-by-neonatal-screening
#9
X W Huang, Y Zhang, J B Yang, F Hong, G L Qian, F Tong, H Q Mao, X L Huang, X L Zhou, R L Yang, Z Y Zhao
Objective: To investigate the incidence, clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Method: From January, 2009 to October, 2015, a retrospective analysis of the urine organic acids and acyl-coenzyme A dehydrogenase (ACADS) gene mutation characteristics of patients diagnosed as SCADD by newborn screening using tandem mass spectrometry in Department of Genetics and Metabolism (Newborn screening Center of Zhejiang Province), Children's Hospital, Zhejiang University School of Medicine...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27933361/biotransformation-and-detectability-of-the-new-psychoactive-substances-n-n-diallyltryptamine-dalt-derivatives-5-fluoro-dalt-7-methyl-dalt-and-5-6-methylenedioxy-dalt-in-urine-using-gc-ms-lc-ms-n-and-lc-hr-ms-ms
#10
Julian A Michely, Simon D Brandt, Markus R Meyer, Hans H Maurer
Derivatives of N,N-diallyltryptamine (DALT) can be classified as new psychoactive substances. Biotransformation and detectability of 5-fluoro-DALT (5-F-DALT), 7-methyl-DALT (7-Me-DALT), and 5,6-methylenedioxy-DALT (5,6-MD-DALT) are described here. Their metabolites detected in rat urine and pooled human liver microsomes were identified by liquid chromatography (LC)-high resolution (HR)-tandem mass spectrometry (MS/MS). In addition, the human cytochrome-P450 (CYP) isoenzymes involved in the main metabolic steps were identified and detectability tested in urine by the authors' urine screening approaches using GC-MS, LC-MS(n), or LC-HR-MS/MS...
December 8, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27915193/metabolic-fate-and-detectability-of-the-new-psychoactive-substances-2-4-bromo-2-5-dimethoxyphenyl-n-2-methoxyphenyl-methyl-ethanamine-25b-nbome-and-2-4-chloro-2-5-dimethoxyphenyl-n-2-methoxyphenyl-methyl-ethanamine-25c-nbome-in-human-and-rat-urine-by-gc-ms
#11
Achim T Caspar, Simon D Brandt, Andreas E Stoever, Markus R Meyer, Hans H Maurer
25B-NBOMe and 25C-NBOMe are potent 5-HT2A receptor agonists that have been associated with inducing hallucinogenic effects in drug users and severe intoxications. This paper describes the identification of their metabolites in rat and human urine by liquid chromatography (LC)-high resolution (HR)-MS/MS, the comparison of metabolite formation in vitro and in vivo and in different species, the general involvement of human cytochrome-P450 (CYP) isoenzymes on their metabolism steps, and their detectability by standard urine screening approaches (SUSAs) using GC-MS, LC-MS(n), or LC-HR-MS/MS...
February 5, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/27915192/the-profiling-of-the-metabolites-of-hirsutine-in-rat-by-ultra-high-performance-liquid-chromatography-coupled-with-linear-ion-trap-orbitrap-mass-spectrometry-an-improved-strategy-for-the-systematic-screening-and-identification-of-metabolites-in-multi-samples
#12
Jianwei Wang, Peng Qi, Jinjun Hou, Yao Shen, Min Yang, Qirui Bi, Yanping Deng, Xiaojian Shi, Ruihong Feng, Zijin Feng, Wanying Wu, Dean Guo
Drug metabolites identification and construction of metabolic profile are meaningful work for the drug discovery and development. The great challenge during this process is the work of the structural clarification of possible metabolites in the complicated biological matrix, which often resulting in a huge amount data sets, especially in multi-samples in vivo. Analyzing these complex data manually is time-consuming and laborious. The object of this study was to develop a practical strategy for screening and identifying of metabolites from multiple biological samples efficiently...
February 5, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#13
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27896352/high-throughput-metabolomics-approach-reveals-new-mechanistic-insights-for-drug-response-of-phenotypes-of-geniposide-towards-alcohol-induced-liver-injury-by-using-liquid-chromatography-coupled-to-high-resolution-mass-spectrometry
#14
Tianlei Zhang, Aihua Zhang, Shi Qiu, Hui Sun, Ying Han, Yu Guan, Xijun Wang
Alcohol-induced liver injury (ALD) shows obvious metabolic disorders, categorized by a wide range of metabolite abnormalities. High-throughput metabolomics technology appears to be an appropriate solution. In this study, a urine metabolic profile was assessed using a UPLC-Q-TOF/HDMS (liquid chromatography coupled to high resolution mass spectrometry) approach to investigate the underlying molecular mechanisms of ALD and the therapeutic effect of geniposide. The endogenous low-molecular-weight metabolites in the mouse model of ALD were observed and 48 specific biomarkers were identified...
December 20, 2016: Molecular BioSystems
https://www.readbyqxmd.com/read/27842978/significance-of-urinary-glycosaminoglycans-proteoglycans-in-the-evaluation-of-type-1-and-type-2-diabetes-complications
#15
Antonio Junior Lepedda, Pierina De Muro, Giampiero Capobianco, Marilena Formato
Because of the high incidence of kidney disease in diabetic patients, the early diagnosis of renal impairment is a key point for intervention and management. Although urinary albumin excretion currently represents the accepted standard to assess both diabetic nephropathy and cardiovascular risk, it has some limitations as structural changes in the glomerular basement membrane may occur before the onset of microalbuminuria. It is therefore important to identify urinary markers that may provide greater sensitivity, earlier detection, and greater predictive power for diabetes complications...
January 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27817783/-pancytopenia-and-metabolic-decompensation-in-a-neonate
#16
Jian-Qiang Tan, Da-Yu Chen, Zhen-Qin Mo, Zhe-Tao Li, Ji-Wei Huang, Ren Cai, Ti-Zhen Yan
A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27814705/maternal-urinary-metabolic-signatures-of-fetal-growth-and-associated-clinical-and-environmental-factors-in-the-inma-study
#17
Léa Maitre, Cristina M Villanueva, Matthew R Lewis, Jesús Ibarluzea, Loreto Santa-Marina, Martine Vrijheid, Jordi Sunyer, Muireann Coen, Mireille B Toledano
BACKGROUND: Maternal metabolism during pregnancy is a major determinant of the intra-uterine environment and fetal outcomes. Herein, we characterize the maternal urinary metabolome throughout pregnancy to identify maternal metabolic signatures of fetal growth in two subcohorts and explain potential sources of variation in metabolic profiles based on lifestyle and clinical data. METHODS: We used (1)H nuclear magnetic resonance (NMR) spectroscopy to characterize maternal urine samples collected in the INMA birth cohort at the first (n = 412 and n = 394, respectively, in Gipuzkoa and Sabadell cohorts) and third trimesters of gestation (n = 417 and 469)...
November 4, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27796941/hepatic-porphyria-a-narrative-review
#18
REVIEW
Sumant Arora, Steven Young, Sudha Kodali, Ashwani K Singal
Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT)...
November 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#19
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27784637/screening-and-verifying-endometrial-carcinoma-diagnostic-biomarkers-based-on-a-urine-metabolomic-profiling-study-using-uplc-q-tof-ms
#20
Xidong Shao, Ke Wang, Xinyu Liu, Caiyun Gu, Pengjie Zhang, Jiabin Xie, Wenxin Liu, Lu Sun, Tong Chen, Yubo Li
BACKGROUND: Endometrial carcinoma (EOC) is a gynecological disease with one of the highest worldwide incidences. Due to the lack of typical clinical symptoms and limited sensitive screening methods used to diagnose endometrial carcinoma, the disease is easily neglected before patients are aware of its presence. Therefore, EOC results in serious impacts on women's lives and health. We screened diagnostic biomarkers of EOC with a noninvasive method that compared healthy individuals and endometrial hyperplasia (EOH) patients...
December 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
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