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Urine metabolic screen

Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
Isabella Tabaro, Giuseppe Reimondo, Giangiacomo Osella, Caterina Aurizi, Pasquale Caraci, Luca Barbieri, Daniela Francesca Giachino, Fabio Sirchia, Massimo Terzolo
PURPOSE: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia...
March 7, 2018: Endocrine
Wu-Ping Liu, Chan-Yi Li, Jing Huang, Jing-Zhu Liao, Wen-Jie Ma, Hong-Yuan Chen, Wen Rui
To identify biomarkers for spleen Qi deficiency by analyzing small molecule metabolites in urine, in order to expound the relationship between biomarkers and metabolic pathways. The spleen Qi deficiency model was established through dietary restriction and overstrain. All of the rats received D-xylose absorption experiment and blood routine test. Urine samples were collected in the next day. The urine samples were analyzed using UPLC-Q-TOF-MS to obtain the dataset of urine metabolic group. Principal component analysis (PCA), orthogonal partialleast squares-discriminant analysis (OPLS-DA) and other multivariate statistical methods were employed to evaluate the quality of the dataset and screen out potential biomarkers of spleen Qi deficiency...
December 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Mary Kay Koenig, Penelope E Bonnen
Metabolomic profiling is an emerging technology in the clinical setting with immediate diagnostic potential for the population of patients with Inborn Errors of Metabolism. We present the metabolomics profile of two ABAT deficiency patients both pre- and posttreatment with flumazenil. ABAT deficiency, also known as GABA-transaminase deficiency, is caused by recessive mutations in the gene ABAT and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and seizures. Through metabolomics screening of multiple patient tissues, we identify 2-pyrrolidinone as a biomarker for GABA that is informative in plasma, urine, and CSF...
February 27, 2018: JIMD Reports
Earl B Ettienne, Edwin Chapman, Mary Maneno, Adaku Ofoegbu, Bradford Wilson, Beverlyn Settles-Reaves, Melissa Clarke, Georgia Dunston, Kevin Rosenblatt
Introduction: Opioid use disorder (OUD) is characterized by a problematic pattern of opioid use leading to clinically-significant impairment or distress. Opioid agonist treatment is an integral component of OUD management, and buprenorphine is often utilized in OUD management due to strong clinical evidence for efficacy. However, interindividual genetic differences in buprenorphine metabolism may result in variable treatment response, leaving some patients undertreated and at increased risk for relapse...
December 2017: Addictive Behaviors Reports
Irene M L W Körver-Keularts, Ping Wang, Huub W A H Waterval, Leo A J Kluijtmans, Ron A Wevers, Claus-Dieter Langhans, Camilla Scott, Daphna D J Habets, Jörgen Bierau
Since organic acid analysis in urine with gaschromatography-mass spectrometry (GC-MS) is a time-consuming technique, we developed a new liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-QTOF/MS) method to replace the classical analysis for diagnosis of inborn errors of metabolism (IEM). Sample preparation is simple and experimental time short. Targeted mass extraction and automatic calculation of z-scores generated profiles characteristic for the IEMs in our panel consisting of 71 biomarkers for defects in amino acids, neurotransmitters, fatty acids, purine, and pyrimidine metabolism as well as other disorders...
February 12, 2018: Journal of Inherited Metabolic Disease
Jennifer M Kwon
PURPOSE OF REVIEW: This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist. RECENT FINDINGS: Advances in next-generation sequencing and the emerging use of advanced metabolomic screening have made it possible to diagnose treatable inborn errors of metabolism that are not included in current newborn screening programs...
February 2018: Continuum: Lifelong Learning in Neurology
Emilie Aubry, Carla Aeberhard, Lia Bally, Jean-Marc Nuoffer, Lorenz Risch, Stefan Mühlebach, Jean-Marc Burgunder, Zeno Stanga
OBJECTIVES: Patients with mitochondrial disorders (MD) frequently present with gastrointestinal complaints, mainly gastrointestinal dysmotility, that interfere with their food intake. A deterioration of their nutritional state may worsen the course of the disease. Our study aimed to evaluate a simple screening tool to identify nutritional risk and perform an extended nutritional assessment to explore the potential presence of deficiencies in this population compared with controls. METHODS: A prospective cohort study was conducted to compare outpatients with MD to matched healthy controls...
March 2018: Nutrition
Angeline Thomas, Els F M Dobbels, Priscilla E Springer, Christelle Ackermann, Mark F Cotton, Barbara Laughton
The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have HIV infection. Neurodevelopmental delay and encephalopathy are complications of both HIV and GA1. In such a setting it is important to recognise that HIV and GA1 can occur simultaneously. We present an HIV-infected South African male child of Xhosa descent with macrocephaly who commenced combination antiretroviral therapy (ART) at 8 weeks of age in a clinical trial which included a neurodevelopmental sub-study...
February 9, 2018: Metabolic Brain Disease
Chelsie E Armbruster, Harry L T Mobley, Melanie M Pearson
Proteus mirabilis , a Gram-negative rod-shaped bacterium most noted for its swarming motility and urease activity, frequently causes catheter-associated urinary tract infections (CAUTIs) that are often polymicrobial. These infections may be accompanied by urolithiasis, the development of bladder or kidney stones due to alkalinization of urine from urease-catalyzed urea hydrolysis. Adherence of the bacterium to epithelial and catheter surfaces is mediated by 17 different fimbriae, most notably MR/P fimbriae...
February 2018: EcoSal Plus
Yelda Asad, Sajjad Ahmad, Thanyada Rungrotmongkol, Kara E Ranaghan, Syed Sikander Azam
The bacterium Providencia stuartii, is associated with urinary tract infections and is the most common cause of purple urine bag syndrome. The increasing multi-drug resistance pattern shown by the pathogen and lack of licensed vaccines make treatment of infections caused by P. stuartii challenging. As vaccinology data against the pathogen is scarce, an in silico proteome based Reverse Vaccinology (RV) protocol, in combination with subtractive proteomics is introduced in this work to screen potential vaccine candidates against P...
January 31, 2018: Journal of Molecular Graphics & Modelling
Lawrence Fisher, Christine Davies, Osama Y Al-Dirbashi, Herman J Ten Brink, Pranesh Chakraborty, Nathalie Lepage
BACKGROUND: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). Currently, no method for analyzing acylglycines from DBS has been published. METHODS: Acylglycines were extracted from two 3...
February 2, 2018: Clinical Biochemistry
Arthur Felix, Edouard Hallet, Anne Favre, Rémi Kom-Tchameni, Antoine Defo, Olivier Fléchelles, Jean-Marc Rosenthal, Maylis Douine, Mathieu Nacher, Narcisse Elenga
RATIONALE: A major epidemic of Zika virus (ZIKV) infection occurred in French Guiana and West Indies. French national epidemiological surveillance estimated that 1650 pregnant women contracted the ZIKV during epidemic period from January 2016 to October 2016 in French Guiana. PATIENT CONCERNS: ZIKV infection during pregnancy is a cause of microcephaly and birth defects. DIAGNOSES: In this report, we describe 2 children with proven in utero ZIKV exposure...
December 2017: Medicine (Baltimore)
Lea Wagmann, Hans H Maurer
Bioanalysis of new psychoactive substances (NPS) is very challenging due to the growing number of compounds with new chemical structures found on the drugs of abuse market. Screening, identification, and quantification in biosamples are needed in clinical and forensic toxicology settings, and these procedures are more challenging than the analysis of seized drug material because of extremely low concentrations encountered in biofluids but also due to diverse metabolic alterations of the parent compounds. This article focuses on bioanalytical single- and multi-analyte procedures applicable to a broad variety of NPS in various biomatrices, such as blood, urine, oral fluid, or hair...
January 28, 2018: Handbook of Experimental Pharmacology
Kaushalya Jayaweera, Lisa Aschan, Gayani Pannala, Anushka Adikari, Nicholas Glozier, Khalida Ismail, Carmine M Pariante, Fruhling Rijsdijk, Sisira Siribaddana, Helena M S Zavos, Patricia A Zunszain, Athula Sumathipala, Matthew Hotopf
BACKGROUND: The disease burden related to mental disorders and metabolic syndrome is growing in low-and middle-income countries (LMIC). The Colombo Twin and Singleton Study (COTASS) is a population-based sample of twins and singletons in Colombo, Sri Lanka. Here we present prevalence estimates for metabolic syndrome (metS) and mental disorders from a follow-up (COTASS-2) of the original study (COTASS-1), which was a mental health survey. METHODS: In COTASS-2, participants completed structured interviews, anthropometric measures and provided fasting blood and urine samples...
January 17, 2018: BMC Public Health
Lukas Mogler, Maurice Wilde, Laura M Huppertz, Georg Weinfurtner, Florian Franz, Volker Auwärter
Indole, indazole or azaindole based synthetic cannabinoids (SCs), bearing a cumyl substituent are a widespread, recreationally used subgroup of new psychoactive substances (NPS). The latest cumyl-derivative, CUMYL-PEGACLONE, emerged in December 2016 on the German drug market. The substance features a novel γ-carboline core structure, which is most likely synthesized to bypass generic legislative approaches to control SCs by prohibiting distinct core structures. Using liquid chromatography tandem mass spectrometry and liquid chromatography high resolution mass spectrometry techniques, the main in vivo phase I metabolites of this new substance were detected...
January 3, 2018: Drug Testing and Analysis
Sascha K Manier, Lilian H J Richter, Jan Schäper, Hans H Maurer, Markus R Meyer
In vitro and in vivo experiments are widely used for studying the metabolism of new psychoactive substances (NPS). The availability of such data is required for toxicological risk assessments and development of urine screening approaches. This study investigated the in vitro metabolism of the five pyrrolidinophenone-derived NPS alpha-pyrrolidinobutyrophenone (alpha-PBP), alpha-pyrrolidinopentiothiophenone (alpha-PVT), alpha-pyrrolidinohexanophenone (alpha-PHP), alpha-pyrrolidinoenanthophenone (alpha-PEP, PV8), and alpha-pyrrolidinooctanophenone (alpha-POP, PV9)...
January 4, 2018: Drug Testing and Analysis
Xiaomei Li, Yali Yang, Qing Gao, Min Gao, Yvqiang Lv, Rui Dong, Yi Liu, Kaihui Zhang, Zhongtao Gai
Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD. Furthermore, more than 265 mutations have been identified as the cause across different populations worldwide...
January 6, 2018: Metabolic Brain Disease
Ali Mazaheri, Neda Mostofizadeh, Mahin Hashemipour
Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. In this report, we present a case with clinical and biochemical findings of homocystinuria with stroke and a positive familial history of the disease in her brother. A 4-year-old girl was admitted to pediatric emergency ward because of acute onset of right hemiparesis and subsequent generalized tonic-clonic seizures...
2017: Advanced Biomedical Research
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