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Urine metabolic screen

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https://www.readbyqxmd.com/read/28813744/alkaptonuria-a-case-report-with-diagnostic-challenge
#1
Vasantha L Gali, Amy M Kerkvliet, Jacob M Kusmak, Jana K Elwood
Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, the only enzyme capable of catabolizing HGA. Deficiency of this enzyme leads to excess HGA which deposits in the connective tissue. We present a case of a 64-year-old woman who was referred to the dermatology clinic for a full body mole check and skin cancer screening. Clinically she had blue/gray pigmentation of the external ear and sclera. Also she had a domed papule on the left cheek with punctate gray pigmentation which was biopsied...
August 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28809621/cardiovascular-risk-factors-and-mortality-in-children-with-chronic-kidney-disease
#2
Abdullahi Mudi, Caroline Dickens, Cecil Levy, Daynia Ballot
BACKGROUND: Cardiovascular disease (CVD) begins early in children with chronic kidney disease (CKD), and its progression is determined by the presence of single or multiple cardiovascular risk factors (CVRFs). OBJECTIVE: To determine the prevalence of CVRFs in children with CKD and their association with mortality in children on chronic dialysis. METHODS: This comparative cross-sectional study recruited children aged 5 - 18 years with all stages of CKD...
July 28, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28806569/metabolic-profiling-of-dehydrodiisoeugenol-using-xenobiotic-metabolomics
#3
Qian-Qian Lv, Xiao-Nan Yang, Dong-Mei Yan, Wei-Qing Liang, Hong-Ning Liu, Xiu-Wei Yang, Fei Li
Dehydrodiisoeugenol (DDIE), a representative and major benzofuran-type neolignan in Myristica fragrans Houtt., shows anti-inflammatory and anti-bacterial actions. In order to better understand its pharmacological properties, xenobiotic metabolomics was used to determine the metabolic map of DDIE and its influence on endogenous metabolites. Total thirteen metabolites of DDIE were identified through in vivo and in vitro metabolism, and seven of them were reported for the first time in the present study. The identity of DDIE metabolites was achieved by comparison of the MS/MS fragmentation pattern with DDIE using ultra-performance chromatography electrospray ionization quadrupole time-of-flight mass spectrometry (UPLC-ESI- QTOFMS)...
July 31, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28801043/rapid-identification-of-herbal-compounds-derived-metabolites-using-zebrafish-larvae-as-the-biotransformation-system
#4
Chen Wang, Ying-Hao Yin, Ying-Jie Wei, Zi-Qi Shi, Jian-Qun Liu, Li-Fang Liu, Gui-Zhong Xin
Metabolites derived from herbal compounds are becoming promising sources for discovering new drugs. However, the rapid identification of metabolites from biological matrixes is limited by massive endogenous interference and low abundance of metabolites. Thus, by using zebrafish larvae as the biotransformation system, we herein proposed and validated an integrated strategy for rapid identification of metabolites derived from herbal compounds. Two pivotal steps involved in this strategy are to differentiate metabolites from herbal compounds and match metabolites with their parent compounds...
July 29, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28793309/the-microbiome-in-urogenital-schistosomiasis-and-induced-bladder-pathologies
#5
Adewale S Adebayo, Mangesh Survayanshi, Shrikanth Bhute, Atinuke M Agunloye, Raphael D Isokpehi, Chiaka I Anumudu, Yogesh S Shouche
BACKGROUND: Human schistosomiasis is a highly prevalent neglected tropical disease (NTD) caused by Schistosoma species. Research on the molecular mechanisms influencing the outcomes of bladder infection by Schistosoma haematobium is urgently needed to develop new diagnostics, therapeutics and infection prevention strategies. The objective of the research study was to determine the microbiome features and changes in urine during urogenital schistosomiasis and induced bladder pathologies...
August 9, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28782580/new-psychoactive-substances-studies-on-the-metabolism-of-xlr-11-ab-pinaca-fub-pb-22-4-methoxy-%C3%AE-pvp-25-i-nbome-and-meclonazepam-using-human-liver-preparations-in-comparison-to-primary-human-hepatocytes-and-human-urine
#6
Lilian H J Richter, Hans H Maurer, Markus R Meyer
New psychoactive substances (NPS) are an increasing problem in clinical and forensic toxicology. The knowledge of their metabolism is important for toxicological risk assessment and for developing toxicological urine screenings. Considering the huge numbers of NPS annually appearing on the market, metabolism studies should be realized in a fast, simple, cost efficient, and reliable way. Primary human hepatocytes (PHH) were recommended to be the gold standard for in vitro metabolism studies as they are expected to contain natural enzyme clusters, co-substrates, and drug transporters...
August 3, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28771321/activity-based-detection-of-consumption-of-synthetic-cannabinoids-in-authentic-urine-samples-using-a-stable-cannabinoid-reporter-system
#7
Annelies Cannaert, Florian Franz, Volker Auwärter, Christophe P Stove
Synthetic cannabinoids (SCs) continue to be the largest group of new psychoactive substances (NPS) monitored by the European Monitoring Center of Drugs and Drugs of Abuse (EMCDDA). The identification and subsequent prohibition of single SCs has driven clandestine chemists to produce analogues of increasing structural diversity, intended to evade legislation. That structural diversity, combined with the mostly unknown metabolic profiles of these new SCs, poses a big challenge for the conventional targeted analytical assays, as it is difficult to screen for 'unknown' compounds...
August 3, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28763295/contamination-of-dried-blood-spots-an-underestimated-risk-in-newborn-screening
#8
Theresa Winter, Anja Lange, Anke Hannemann, Matthias Nauck, Cornelia Müller
BACKGROUND: Newborn screening (NBS) is an established screening procedure in many countries worldwide, aiming at the early detection of inborn errors of metabolism. For decades, dried blood spots have been the standard specimen for NBS. The procedure of blood collection is well described and standardized and includes many critical pre-analytical steps. We examined the impact of contamination of some anticipated common substances on NBS results obtained from dry spot samples. This possible pre-analytical source of uncertainty has been poorly examined in the past...
August 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28762065/lc-high-resolution-ms-ms-for-identification-of-69-metabolites-of-the-new-psychoactive-substance-1-4-ethylphenyl-n-2-methoxyphenyl-methyl-propane-2-amine-4-ea-nbome-in-rat-urine-and-human-liver-s9-incubates-and-comparison-of-its-screening-power-with-further
#9
Achim T Caspar, Folker Westphal, Markus R Meyer, Hans H Maurer
4-EA-NBOMe (N-(2-methoxybenzyl)-4-ethylamphetamine, 1-(4-ethylphenyl-)-N-[(2-methoxyphenyl)methyl]propane-2-amine) is an amphetamine-derived new psychoactive substance (NPS) of the N-methoxybenzyl (NBOMe) group first seized by German custom authorities. In contrast to the phenethylamine NBOMes, studies on the pharmacological, toxicological, or metabolic properties are not yet published. The aims of the presented work were the use of LC-HR-MS/MS for identification of the phase I and II metabolites of 4-EA-NBOMe in rat urine and pooled human S9 fraction (pS9) incubations, to compare metabolite formation in both models, to identify involved monooxygenases, and to elucidate its detectability in standard urine screening approaches (SUSAs) using GC-MS, LC-MS(n), and LC-HR-MS/MS...
July 31, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28755196/the-qu%C3%A3-bec-ntbc-study
#10
Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas, Jean-François Bussières, Josée Dubois, Daphna Fenyves, Paul Goodyer, Martyne Gosselin, Ugur Halac, Patrick Labbé, Rachel Laframboise, Bruno Maranda, Serge Melançon, Aicha Merouani, Grant A Mitchell, John Mitchell, Guy Parizeault, Luc Pelletier, Véronique Phan, Jean-François Turcotte
In this chapter we describe the current Quebec NTBC Study protocol. Quebec's unique characteristics have influenced the development of the protocol, including a high prevalence of hepatorenal tyrosinemia (HT1), universal newborn screening for HT1, availability of treatment with nitisinone (NTBC) and special diet, a large territory, where HT1 treatment is coordinated by a small number of centers. Screened newborns are seen within 3 weeks of birth. Patients with liver dysfunction (prolonged prothrombin time and/or international normalized ratio (INR) provide sensitive, rapidly available indicators) are treated by NTBC and special diet...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28748224/utility-of-genetic-testing-for-confirmation-of-abnormal-newborn-screening-in-disorders-of-long-chain-fatty-acids-a-missed-case-of-carnitine-palmitoyltransferase-1a-cpt1a-deficiency
#11
Leah Dowsett, Lauren Lulis, Can Ficicioglu, Sanmati Cuddapah
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a rare autosomal recessive disorder of long-chain fatty acid oxidation...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28728374/analysis-of-metabolomic-patterns-in-thoroughbreds-before-and-after-exercise
#12
Hyun-Jun Jang, Duk-Moon Kim, Kyu-Bong Kim, Jeong-Woong Park, Jae-Young Choi, Jin Hyeog Oh, Ki-Duk Song, Suhkmann Kim, Byung-Wook Cho
Objective: Evaluation of exercise effects in racehorse is important in horseracing industry and animal health care. In this study, we compared metabolic patterns between before and after exercise to screen metabolic biomarkers for exercise effects in thoroughbreds. Methods: The concentration of metabolites in muscle, plasma, and urine was measured by 1H NMR spectroscopy analysis and the relative metabolite levels in the three samples were compared between before and after exercise...
June 27, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28726122/beta-ketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals
#13
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A Genetti, Meghan C Towne, Roy W A Peake, Philip M James, Alan H Beggs, Catherine A Brownstein, Gerard T Berry, Pankaj B Agrawal
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic variants in the ACAT1 gene, encoding mitochondrial beta-ketothiolase. We report two cases of beta-ketothiolase deficiency presenting with acute ketoacidosis and "metabolic stroke." The first patient presented at 28 months of age with metabolic acidosis and pallidal stroke in the setting of a febrile gastrointestinal illness...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#14
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28722418/urine-metabonomics-reveals-early-biomarkers-in-diabetic-cognitive-dysfunction
#15
Lili Song, Pengwei Zhuang, Mengya Lin, Mingqin Kang, Hongyue Liu, Yuping Zhang, Zhen Yang, Yunlong Chen, Yanjun Zhang
Recently, increasing attention has been paid to diabetic encephalopathy which is one of frequent diabetic complications and affects nearly 30% diabetics. Since cognitive dysfunction from diabetic encephalopathy might develop irreversible dementia, early diagnosis and detection of this disease is of great significance for its prevention and treatment. This study is to investigate the early specific metabolites biomarkers in the urine prior to the onset of diabetic cognitive dysfunction (DCD) by using metabolomics technology...
July 19, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28714487/screening-mentally-retarded-children-for-inborn-errors-of-metabolism
#16
N K Shreevastava, A S Pandey
BACKGROUND: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide for detection of inborn errors of metabolism. The purpose of the study is to determine the prevalence of inborn error of metabolism in mentally retarded children. METHODS: Random urine samples were collected from mentally retarded children at two institutes in Kathmandu, and also from 60 normal children from Duwakot, Nepal after obtaining consent from their parents...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28713441/analysis-of-raw-biofluids-by-mass-spectrometry-using-microfluidic-diffusion-based-separation
#17
Joshua Heinemann, Brigit Noon, Daniel Willems, Katherine Budeski, Brian Bothner
Elucidation and monitoring of biomarkers continues to expand because of their medical value and potential to reduce healthcare costs. For example, biomarkers are used extensively to track physiology associated with drug addiction, disease progression, aging, and industrial processes. While longitudinal analyses are of great value from a biological or healthcare perspective, the cost associated with replicate analyses is preventing the expansion of frequent routine testing. Frequent testing could deepen our understanding of disease emergence and aid adoption of personalized healthcare...
January 21, 2017: Analytical Methods: Advancing Methods and Applications
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#18
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28702879/assessment-of-genotoxicity-amongst-smokers-alcoholics-and-tobacco-chewers-of-north-india-using-micronucleus-assay-and-urinary-8-hydroxyl-2-deoxyguanosine-as-biomarkers
#19
S V S Rana, Yeshvandra Verma, Gagan Deep Singh
The main objective of the present study was to screen the genotoxicity caused by individual and combined habits of smoking, tobacco chewing, and alcohol consumption in human population of North India. Study recruited 67 male subjects aged 25 to 65 years. Buccal mucosal cells were subjected to micronucleus (MN) assay, and 8-hydroxyl-2-deoxyguanosine (8-OHdG) was estimated in their urine samples. Number and shape of the MN cells varied in the buccal epithelium of different groups. Maximum number of MN (0.47%) were found in tobacco chewers followed by smokers (0...
August 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28677880/study-of-the-in-vitro-and-in-vivo-metabolism-of-the-tryptamine-5-meo-mipt-using-human-liver-microsomes-and-real-case-samples
#20
Katharina Elisabeth Grafinger, Marianne Hädener, Stefan König, Wolfgang Weinmann
The synthetic tryptamine 5-methoxy-N-methyl-N-isopropyltryptamine (5-MeO-MiPT) has recently been abused as a hallucinogenic drug in Germany and Switzerland. This study presents a case of 5-MeO-MiPT intoxication and the structural elucidation of metabolites in pooled human liver microsomes (pHLM), blood, and urine. Microsomal incubation experiments were performed using pHLM to detect and identify in vitro metabolites. In August 2016, the police encountered a naked man, agitated and with aggressive behavior on the street...
July 5, 2017: Drug Testing and Analysis
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