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Urine metabolic screen

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https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#1
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
#2
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...
November 29, 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
#3
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...
October 17, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27817783/-pancytopenia-and-metabolic-decompensation-in-a-neonate
#4
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
#5
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
#6
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)...
October 31, 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
#7
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
#8
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...
October 23, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27779402/detection-and-activity-profiling-of-synthetic-cannabinoids-and-metabolites-with-a-newly-developed-bio-assay
#9
Annelies Cannaert, Jolien Storme, Florian Franz, Volker Auwärter, Christophe P Stove
Synthetic cannabinoids (SCs) are the largest group of compounds currently monitored in Europe by the EU Early Warning System on new psychoactive substances. Emerging recreational use of these products has led to multiple cases of adverse health effects and even death. In contrast to marijuana, where Δ9-tetrahydrocannabinol (Δ9THC) is metabolized to only one major active metabolite, it has been reported that several major phase I metabolites of SCs remain biologically active, exerting cannabinoid (CB) receptor affinity, potency and efficacy greater than Δ9THC...
October 25, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/27770826/plasma-urine-and-ligament-tissue-metabolite-profiling-reveals-potential-biomarkers-of-ankylosing-spondylitis-using-nmr-based-metabolic-profiles
#10
Wei Wang, Gen-Jin Yang, Ju Zhang, Chen Chen, Zhen-Yu Jia, Jia Li, Wei-Dong Xu
BACKGROUND: Ankylosing spondylitis (AS) is an autoimmune rheumatic disease mostly affecting the axial skeleton. Currently, anti-tumour necrosis factor α (anti-TNF-α) represents an effective treatment for AS that may delay the progression of the disease and alleviate the symptoms if the diagnosis can be made early. Unfortunately, effective diagnostic biomarkers for AS are still lacking; therefore, most patients with AS do not receive timely and effective treatment. The intent of this study was to determine several key metabolites as potential biomarkers of AS using metabolomic methods to facilitate the early diagnosis of AS...
October 22, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27758707/new-psychoactive-substances-3-methoxyphencyclidine-3-meo-pcp-and-3-methoxyrolicyclidine-3-meo-pcpy-metabolic-fate-elucidated-with-rat-urine-and-human-liver-preparations-and-their-detectability-in-urine-by-gc-ms-lc-high-resolution-msn-and-lc-high-resolution
#11
Julian A Michely, Sascha K Manier, Achim T Caspar, Simon D Brandt, Jason Wallach, Hans H Maurer
3-Methoxyphencyclidine (3-MeO-PCP) and 3-methoxyrolicyclidine (3-MeO-PCPy) are two new psychoactive substances (NPS). The aims of the present study were the elucidation of their metabolic fate in rat and pooled human liver microsomes (pHLM), the identification of the cytochrome P450 (CYP) isoenzymes involved, and the detectability using standard urine screening approaches (SUSA) after intake of common users' doses using gas chromatography-mass spectrometry (GC-MS), liquid chromatography-multi-stage mass spectrometry (LC-MSn), and liquid chromatography-high-resolution tandem mass spectrometry (LC-HR-MS/MS)...
October 18, 2016: Current Neuropharmacology
https://www.readbyqxmd.com/read/27747994/in-vivo-metabolic-investigation-of-silodosin-using-uhplc-qtof-ms-ms-and-in-silico-toxicological-screening-of-its-metabolites
#12
Chiguru Vishnuvardhan, Saibaba Baikadi, Roshan M Borkar, R Srinivas, N Satheeshkumar
Silodosin (SLD) is a novel α1-adrenoceptor antagonist which has shown promising clinical efficacy and safety in patients with benign prostatic hyperplasia (BPH). However, lack of information about metabolism of SLD prompted us to investigate metabolic fate of SLD in rats. To identify in vivo metabolites of SLD, urine, feces and plasma were collected from Sprague-Dawley rats after its oral administration. The samples were prepared using an optimized sample preparation approach involving protein precipitation followed by solid-phase extraction and then subjected to LC/HR-MS/MS analysis...
October 2016: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/27736030/studies-on-the-metabolism-of-the-fentanyl-derived-designer-drug-butyrfentanyl-in-human-in-vitro-liver-preparations-and-authentic-human-samples-using-liquid-chromatography-high-resolution-mass-spectrometry-lc-hrms
#13
Andrea E Steuer, Elena Williner, Sandra N Staeheli, Thomas Kraemer
Increasing numbers of new psychoactive substances (NPS) among them fentanyl derivatives has been reported by the European monitoring centre for drugs and drug addiction (EMCDDA). Butyrfentanyl is a new fentanyl derivative whose potency ratio was found to be seven compared to morphine and 0.13 compared to fentanyl. Several case reports on butyrfentanyl intoxications have been described. Little is known about its pharmacokinetic properties including its metabolism. However, knowledge of metabolism is essential for analytical detection in clinical and forensic toxicology...
October 13, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27730080/demographic-and-clinical-characteristics-of-the-children-with-aminoacidopathy-in-isfahan-province-central-iran-in-2007-2015
#14
Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27725730/global-metabolomics-reveals-potential-urinary-biomarkers-of-esophageal-squamous-cell-carcinoma-for-diagnosis-and-staging
#15
Jing Xu, Yanhua Chen, Ruiping Zhang, Jiuming He, Yongmei Song, Jingbo Wang, Huiqing Wang, Luhua Wang, Qimin Zhan, Zeper Abliz
We performed a metabolomics study using liquid chromatography-mass spectrometry (LC-MS) combined with multivariate data analysis (MVDA) to discriminate global urine profiles in urine samples from esophageal squamous cell carcinoma (ESCC) patients and healthy controls (NC). Our work evaluated the feasibility of employing urine metabolomics for the diagnosis and staging of ESCC. The satisfactory classification between the healthy controls and ESCC patients was obtained using the MVDA model, and obvious classification of early-stage and advanced-stage patients was also observed...
October 11, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27714988/intranasal-delivery-of-natesto%C3%A2-testosterone-gel-and-its-effects-on-doping-markers
#16
Geoffrey D Miller, Vinod Nair, M Scott Morrison, Maggie Summers, Stuart E Willick, Daniel Eichner
The laboratory profile of intranasal testosterone gel has not been previously reported from an anti-doping perspective. Because intranasal testosterone gel is newly available as a commercial product, we sought to examine the laboratory parameters following administration of this formulation, with particular attention to anti-doping guidelines. Five healthy and active male subjects were administered testosterone intranasal gel three times daily for four weeks, using a five consecutive days on, two days off, pattern...
October 7, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27714667/challenges-in-the-management-of-patients-with-maple-syrup-urine-disease-diagnosed-by-newborn-screening-in-a-developing-country
#17
Leniza G De Castro-Hamoy, Mary Anne D Chiong, Sylvia C Estrada, Cynthia P Cordero
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. We described all patients with maple syrup urine disease patients diagnosed through newborn screening during its first 2 years of implementation and the challenges encountered during their medical management. There were 24 patients diagnosed with maple syrup urine disease for the 2-year period...
October 6, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27706103/in-vitro-metabolic-studies-of-rev-erb-agonists-sr9009-and-sr9011
#18
Lore Geldof, Koen Deventer, Kris Roels, Eva Tudela, Peter Van Eeno
SR9009 and SR9011 are attractive as performance-enhancing substances due to their REV-ERB agonist effects and thus circadian rhythm modulation activity. Although no pharmaceutical preparations are available yet, illicit use of SR9009 and SR9011 for doping purposes can be anticipated, especially since SR9009 is marketed in illicit products. Therefore, the aim was to identify potential diagnostic metabolites via in vitro metabolic studies to ensure effective (doping) control. The presence of SR9009 could be demonstrated in a black market product purchased over the Internet...
October 3, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27697573/nmr-based-metabonomics-and-correlation-analysis-reveal-potential-biomarkers-associated-with-chronic-atrophic-gastritis
#19
Jiajia Cui, Yuetao Liu, Yinghuan Hu, Jiayu Tong, Aiping Li, Tingli Qu, Xuemei Qin, Guanhua Du
Chronic atrophic gastritis (CAG) is one of the most important pre-cancerous states with a high prevalence. Exploring of the underlying mechanism and potential biomarkers is of significant importance for CAG. In the present work, (1)H NMR-based metabonomics with correlative analysis was performed to analyze the metabolic features of CAG. 19 plasma metabolites and 18 urine metabolites were enrolled to construct the circulatory and excretory metabolome of CAG, which was in response to alterations of energy metabolism, inflammation, immune dysfunction, as well as oxidative stress...
September 28, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/27649524/genotype-dependent-metabolism-of-exogenous-testosterone-new-biomarkers-result-in-prolonged-detectability
#20
Thomas Piper, Wilhelm Schänzer, Mario Thevis
Testosterone (T) misuse still represents a major problem in sports drug testing. Many strategies have been developed and applied to routine doping controls in recent years to enable both to identify suspicious samples in initial testing procedures and to confirm the exogenous origin of urinary T by means of carbon isotope ratio (CIR) determinations. Depending on the tested individual's genotype of UGT2B17, significantly different amounts of T are glucuronidated and excreted, which results in unaffected T/epitestosterone ratios after T misuse in those subjects with the deletion/deletion polymorphism (del/del)...
September 20, 2016: Drug Testing and Analysis
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