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Urine metabolic screen

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https://www.readbyqxmd.com/read/28221141/-etiopathogenic-factors-of-the-different-types-of-urinary-litiasis
#1
Miguel Arrabal-Martín, María Carmen Cano-García, Miguel Ángel Arrabal-Polo, Alejandro Domínguez-Amillo, Nelson Canales-Casco, Javier de la Torre-Trillo, José Manuel Cózar-Olmo
In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. As we well know, there are different factors that influence the formation of the calculi depending on their composition...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#2
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28209494/effect-of-early-onset-preeclampsia-on-cardiovascular-risk-in-the-fifth-decade-of-life
#3
Anouk Bokslag, Pim W Teunissen, Constantijn Franssen, Floortje van Kesteren, Otto Kamp, Wessel Ganzevoort, Walter J Paulus, Christianne J M de Groot
BACKGROUND: Women with hypertensive disorders in pregnancy, in particular early-onset preeclampsia, are at increased risk of developing cardiovascular disease later in life. These women have a more than two-fold increased risk to die from cardiovascular diseases. Most studies focused on identification of risk factors shortly after pregnancy. Less is known on the prevalence of risk factors or actual signs of cardiovascular disease 5 - 20 years later. The presence of hypertension or metabolic syndrome can be seen as an opportunity for preventive interventions to reduce the development of severe cardiovascular diseases like myocardial infarction and stroke...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28179470/phase-i-ii-multicenter-ketogenic-diet-study-for-adult-superrefractory-status-epilepticus
#4
Mackenzie C Cervenka, Sara Hocker, Matthew Koenig, Barak Bar, Bobbie Henry-Barron, Eric H Kossoff, Adam L Hartman, John C Probasco, David R Benavides, Arun Venkatesan, Eliza C Hagen, Denise Dittrich, Tracy Stern, Batya Radzik, Marie Depew, Filissa M Caserta, Paul Nyquist, Peter W Kaplan, Romergryko G Geocadin
OBJECTIVE: To investigate the feasibility, safety, and efficacy of a ketogenic diet (KD) for superrefractory status epilepticus (SRSE) in adults. METHODS: We performed a prospective multicenter study of patients 18 to 80 years of age with SRSE treated with a KD treatment algorithm. The primary outcome measure was significant urine and serum ketone body production as a biomarker of feasibility. Secondary measures included resolution of SRSE, disposition at discharge, KD-related side effects, and long-term outcomes...
February 8, 2017: Neurology
https://www.readbyqxmd.com/read/28161266/clinical-spectrum-of-primary-hyperoxaluria-type%C3%A2-1-experience-of-a-tertiary-center
#5
Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb, Khaled M Eweeda, Alaa Fayez
BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients...
February 1, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28158941/high-throughput-quantitation-of-proline-betaine-in-foods-and-suitability-as-valid-biomarker-for-citrus-consumption
#6
Roman Lang, Tatjana Lang, Matthias Bader, Anja Beusch, Verena Schlagbauer, Thomas Hofmann
Proline betaine has been proposed as a candidate dietary biomarker for citrus intake. To validate its suitability as dietary biomarker and to gain insight into the range of this per-methylated amino acids in foods and beverages, a quick and accurate stable isotope dilution assay was developed for quantitative high-throughput HILIC-MS/MS screening of proline betaine in foods and urine after solvent-mediated matrix precipitation. Quantitative analysis of a variety of foods confirmed substantial amounts of proline betaine in citrus juices (140 - 1100 mg/L) and revealed high abundance in tubers of the vegetable Stachys affinis, also known as Chinese artichocke (~700 mg/kg)...
February 3, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28157703/discovery-and-validation-of-potential-urinary-biomarkers-for-bladder-cancer-diagnosis-using-a-pseudotargeted-gc-ms-metabolomics-method
#7
Yang Zhou, Ruixiang Song, Chong Ma, Lina Zhou, Xinyu Liu, Peiyuan Yin, Zhensheng Zhang, Yinghao Sun, Chuanliang Xu, Xin Lu, Guowang Xu
Bladder cancer (BC) is the second most prevalent malignancy in the urinary system and is associated with significant mortality; thus, there is an urgent need for novel noninvasive diagnostic biomarkers. A urinary pseudotargeted method based on gas chromatography-mass spectrometry was developed and validated for a BC metabolomics study. The method exhibited good repeatability, intraday and interday precision, linearity and metabolome coverage. A total of 76 differential metabolites were defined in the discovery sample set, 58 of which were verified using an independent validation urine set...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28157663/screening-and-identi%C3%AF-cation-of-the-main-metabolites-of-2-amino-9h-pyrido-2-3-b-indole-a%C3%AE-c-in-liver-microsomes-and-rat-urine-by-using-uplc-q-tof-ms-ms
#8
Kai Hu, Ge Zhao, Yufeng Fu, Sheng Wang, Hang Yuan, Fuwei Xie, Shusheng Zhang, Huimin Liu, Minying Liu
2-Amino-9H-pyrido[2,3-b]indole (AαC), which has been reported to be 40-258ng per cigarette, was regarded as a probable human carcinogen (Group 2B) and harmful composition in Hoffman list. Thus, it is of great significance to develop an effective method for the accurate identification of AαC and its metabolites. In the present study, we have investigated for the first time the in vivo and in vitro metabolites of AαC using ultra performance liquid chromatography combined with diode array detector and time-of-flight mass spectrometry (UPLC-DAD and UPLC-Q-TOF-MS/MS)...
January 26, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#9
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28116280/non-traumatic-thoracic-vertebral-compression-fractures-occurred-in-a-young-epileptic-patient-a-case-report
#10
Yoshikuni Mimata, Kotaro Sato, Ryunosuke Oikawa, Minoru Doita
INTRODUCTION: The occurrence of non-traumatic vertebral compression fractures (VCFs) in a healthy young male is very rare. We present a rare case of non-traumatic thoracic VCFs in a young epileptic patient. CASE REPORT: A 19-year-old healthy male experienced severe back pain. There had been no significant traumatic event. A radiograph of the spine showed collapsed vertebra at Th6 and Th7 and magnetic resonance image of the spine showed intensity changes at Th6, Th7 and Th8...
July 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28116043/gender-specific-differences-in-hypothalamus-pituitary-adrenal-axis-activity-during-childhood-a-systematic-review-and-meta-analysis
#11
REVIEW
Bibian van der Voorn, Jonneke J Hollanders, Johannes C F Ket, Joost Rotteveel, Martijn J J Finken
BACKGROUND: Gender-specific differences in hypothalamus-pituitary-adrenal (HPA) axis activity have been postulated to emerge during puberty. We conducted a systematic review and meta-analysis to test the hypothesis that gender-specific differences in HPA axis activity are already present in childhood. METHODS: From inception to January 2016, PubMed and EMBASE.com were searched for studies that assessed non-stimulated cortisol in serum or saliva or cortisol in 24-h urine in healthy males and females aged ≤18 years...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28089709/objective-assessment-of-dietary-patterns-by-use-of-metabolic-phenotyping-a-randomised-controlled-crossover-trial
#12
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
#13
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
#14
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
#15
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
#16
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-Dawley rats with a dose of 100 mg/kg/day. METHODS: In this study, a rapid and sensitive method by ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC/QTOF-MS), and Metabolynx™ software with the mass defect filter (MDF) technique was developed for screening and identification of the metabolites...
March 30, 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
#17
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
#18
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
#19
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
#20
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
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