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Valerylcarnitine

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https://www.readbyqxmd.com/read/28631226/introduction-of-a-simple-second-tier-screening-test-for-c5-isobars-in-dried-blood-spots-reducing-the-false-positive-rate-for-isovaleric-acidaemia-in-expanded-newborn-screening
#1
R S Carling, D Burden, I Hutton, R Randle, K John, J R Bonham
In 2015 the English Newborn Screening programme expanded to include Isovaleric Acidaemia (IVA). Screening is performed by flow injection analysis tandem mass spectrometry of isovalerylcarnitine. Isovalerylcarnitine is isobaric with pivaloylcarnitine which can be present in blood due to the use of pivalic ester pro-drugs or pivalic acid derivatives used as emollients in some nipple creams; the potential for false positives (FP) is well documented. A pilot study in England screened 438,164 babies, 18 had presumptive positive results but only 4 were confirmed as true positives (TP)...
June 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28159823/serum-acylcarnitines-and-risk-of-cardiovascular-death-and-acute-myocardial-infarction-in-patients-with-stable-angina-pectoris
#2
Elin Strand, Eva R Pedersen, Gard F T Svingen, Thomas Olsen, Bodil Bjørndal, Therese Karlsson, Jutta Dierkes, Pål R Njølstad, Gunnar Mellgren, Grethe S Tell, Rolf K Berge, Asbjørn Svardal, Ottar Nygård
BACKGROUND: Excess levels of serum acylcarnitines, which are intermediate products in metabolism, have been observed in metabolic diseases such as type 2 diabetes mellitus. However, it is not known whether acylcarnitines may prospectively predict risk of cardiovascular death or acute myocardial infarction in patients with stable angina pectoris. METHODS AND RESULTS: This study included 4164 patients (median age, 62 years; 72% men). Baseline serum acetyl-, octanoyl-, palmitoyl-, propionyl-, and (iso)valerylcarnitine were measured using liquid chromatography/tandem mass spectrometry...
February 3, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/26737776/metabolite-analysis-in-sepsis-through-conditional-independence-maps
#3
Vicent Ribas Ripoll, Eduardo Romay, Laura Brunelli, Roberta Pastorelli, Gemma Goma, Ana Navas, Antoni Artigas, Ricard Ferrer
Sepsis is the response of the host to an infection that produces lesions in its own organs and tissues. Despite the great advances in modern medicine, including vaccines, antibiotics and intensive care, it is still the primary cause of death due to infection. Sepsis may result in shock, multi-organic failure and death unless there is a rapid identification of the infection and timely administration of treatment. Its mortality rates can reach up to 45.7% for septic shock, its most acute manifestation. In this paper we also present these conditional independence maps in the context of algebraic statistics...
August 2015: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/20591710/rapid-determination-of-c4-acylcarnitine-and-c5-acylcarnitine-isomers-in-plasma-and-dried-blood-spots-by-uplc-ms-ms-as-a-second-tier-test-following-flow-injection-ms-ms-acylcarnitine-profile-analysis
#4
Sabrina Forni, Xiaowei Fu, Susan E Palmer, Lawrence Sweetman
BACKGROUND: Flow-injection MS/MS methods for elevated acylcarnitines are routinely performed in most newborn screening and biochemical genetics laboratories; however this technique cannot distinguish between isobaric compounds; therefore, chromatographic separation is required to quantitate isomers for differential diagnosis of some inborn errors of metabolism. METHODS: A UPLC-MS/MS method has been developed for the simultaneous quantitation of isobutyrylcarnitine and butyrylcarnitine, and a second UPLC-MS/MS method for the quantitation of isovalerylcarnitine, (S) and (R) 2-methylbutyrylcarnitine, pivaloylcarnitine and valerylcarnitine...
September 2010: Molecular Genetics and Metabolism
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