Nontargeted Mass Spectrometry of Dried Blood Spots for Interrogation of the Human Circulating Metabolome

2021 ◽  
Author(s):  
Casey Ward ◽  
Shriram Nallamshetty ◽  
Jeramie D. Watrous ◽  
Eowyn Acres ◽  
Tao Long ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy

2021 ◽  
Vol 9 ◽  
Author(s):  
Chris Stinton ◽  
Hannah Fraser ◽  
Julia Geppert ◽  
Rebecca Johnson ◽  
Martin Connock ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Dried Blood Spots ◽  
Test Accuracy ◽  
Tandem Mass ◽  
Blood Spots ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Sensitivity Specificity ◽  
Long Chain

Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death is common. They are included in newborn blood spot screening programs in many countries around the world. The current process of screening, through the measurement of acylcarnitines (a metabolic by-product) in dried blood spots with tandem mass spectrometry, is subject to uncertainty regarding test accuracy.Methods: We conducted a systematic review of literature published up to 19th June 2018. We included studies that investigated newborn screening for LCHAD or MTP deficiencies by tandem mass spectrometry of acylcarnitines in dried blood spots. The reference standards were urine organic acids, blood acylcarnitine profiles, enzyme analysis in cultured fibroblasts or lymphocytes, mutation analysis, or at least 10-year follow-up. The outcomes of interest were sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Assessment of titles, abstracts, and full-text papers and quality appraisal were carried out independently by two reviewers. One reviewer extracted study data. This was checked by a second reviewer.Results: Ten studies provided data on test accuracy. LCHAD or MTP deficiencies were identified in 23 babies. No cases of LCHAD/MTP deficiencies were identified in four studies. PPV ranged from 0% (zero true positives and 28 false positives from 276,565 babies screened) to 100% (13 true positives and zero false positives from 2,037,824 babies screened). Sensitivity, specificity, and NPV could not be calculated as there was no systematic follow-up of babies who screened negative.Conclusions: Test accuracy estimates of screening for LCHAD and MTP deficiencies with tandem mass spectrometry measurement of acylcarnitines in dried blood were variable in terms of PPVs. Screening methods (including markers and thresholds) varied between studies, and sensitivity, specificity, and NPVs are unknown.

Liquid chromatography-mass spectrometry determination of iloperidone on rat dried blood spots: application to pharmacokinetics

2017 ◽  
Vol 9 (39) ◽  
pp. 5749-5756
Author(s):  
R. Nageswara Rao ◽  
K. Guru Prasad ◽  
Sara Khalid ◽  
K. S. Praneetha ◽  
Dilip Dodda ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Dried Blood Spots ◽  
Liquid Chromatography Mass Spectrometry ◽  
Spectrometry Method ◽  
Mass Spectrometry Method ◽  
Blood Spots ◽  
Chromatography Mass Spectrometry ◽  
Highly Sensitive

A simple, rapid and highly sensitive liquid chromatography-mass spectrometry method was developed and validated for analysis of iloperidone on rat dried blood spots.

Incorporating the measurement of EDTA in dried blood spots (DBS) by tandem mass spectrometry in routine newborn screening

2014 ◽  
Vol 47 (15) ◽  
pp. 144
Author(s):  
Lawrence J. Fisher ◽  
Osama Y. Al-Dirbashi ◽  
Svetlana Ogrel ◽  
Nathan McIntosh ◽  
Michael T. Geraghty ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Blood Spots

Development of a method for multiple vitamin D metabolite measurements by liquid chromatography coupled with tandem mass spectrometry in dried blood spots

The Analyst ◽  
2019 ◽  
Vol 144 (1) ◽  
pp. 299-309 ◽  
Author(s):  
R. Rola ◽  
K. Kowalski ◽  
T. Bieńkowski ◽  
A. Kołodyńska-Goworek ◽  
S. Studzińska
Keyword(s):  
Mass Spectrometry ◽  
Vitamin D ◽  
Liquid Chromatography ◽  
Tandem Mass Spectrometry ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Vitamin D Metabolites ◽  
Blood Spots ◽  
First Time

Profiling of vitamin D metabolites in dried blood spots, including 24,25(OH)2D3, has been performed for the first time.

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