A screening method for biotinidase deficiency in newborns.

1984 ◽  
Vol 30 (1) ◽  
pp. 125-127 ◽  
Author(s):  
G S Heard ◽  
J R Secor McVoy ◽  
B Wolf
Keyword(s):  
Pilot Study ◽  
Whole Blood ◽  
Neonatal Screening ◽  
Screening Method ◽  
Biotinidase Deficiency ◽  
Blood Spots ◽  
Filter Papers ◽  
Biotinidase Activity

Abstract We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. To confirm the deficiency, the enzyme is quantitatively assayed in additional blood spots or serum. A pilot study has been initiated with samples obtained by the Commonwealth of Virginia for phenylketonuria testing.

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

1993 ◽  
Vol 39 (1) ◽  
pp. 66-71 ◽  
Author(s):  
D H Chace ◽  
D S Millington ◽  
N Terada ◽  
S G Kahler ◽  
C R Roe ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Screening Method ◽  
Dried Blood Spots ◽  
Spectrometric Method ◽  
Tandem Mass ◽  
Mass Spectrometric Method ◽  
Blood Spots ◽  
Minimal Sample

Abstract A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope-dilution tandem mass spectrometry, the method takes only a few minutes to perform and requires minimal sample preparation. The accurate assay of both phenylalanine and tyrosine in dried blood spots used for neonatal screening for phenylketonuria in North Carolina successfully differentiated infants who had been classified as normal, affected, and falsely positive by current fluorometric methods. Because the mass-spectrometric method also recognizes other aminoacidemias simultaneously and is capable of automation, it represents a useful development toward a broad-spectrum neonatal screening method.

Neonatal screening for biotinidase deficiency. A pilot study in scotland

1989 ◽  
Vol 12 (3) ◽  
pp. 344-345 ◽  
Author(s):  
R. Kennedy ◽  
R. W. A. Girdwood ◽  
M. D. King
Keyword(s):  
Pilot Study ◽  
Neonatal Screening ◽  
Biotinidase Deficiency

Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study

1986 ◽  
Vol 108 (1) ◽  
pp. 40-46 ◽  
Author(s):  
Gregory S. Heard ◽  
Barry Wolf ◽  
Linda G. Jefferson ◽  
Karen A. Weissbecker ◽  
Walter E. Nance ◽  
...  
Keyword(s):  
Pilot Study ◽  
Neonatal Screening ◽  
Biotinidase Deficiency

scholarly journals Assessment of Plasmodium antigens and CRP in dried blood spots with multiplex malaria array

2021 ◽  
Author(s):  
Ihn Kyung Jang ◽  
Sara Aranda ◽  
Rebecca Barney ◽  
Andrew Rashid ◽  
Muhammad Helwany ◽  
...  
Keyword(s):  
Thermal Stability ◽  
Whole Blood ◽  
Dried Blood Spots ◽  
Careful Consideration ◽  
Clinical Samples ◽  
Sample Type ◽  
Sample Collection ◽  
Malaria Surveillance ◽  
Inflammatory Biomarker ◽  
Blood Spots

AbstractDried blood spots (DBS) typically prepared on filter papers are an ideal sample type for malaria surveillance by offering easy and cost-effective methods in terms of sample collection, storage, and transport. The objective of this study was to evaluate the applicability of DBS with a commercial multiplex malaria assay, developed to concurrently measure Plasmodium antigens, histidine-rich protein 2 (HRP2), Plasmodium lactate dehydrogenase (pLDH), and a host inflammatory biomarker, C-reactive protein (CRP), in whole blood. The assay conditions were optimized for DBS, and thermal stability for measurement of Plasmodium antigens and CRP in dried blood were determined. Performance of the multiplex assay on matched DBS and whole blood pellet samples was also evaluated using the clinical samples. The results indicate the acceptable performance in multiplex antigen detection using DBS samples. At cutoff levels for DBS, with a diagnostic specificity with a lower 95% confidence bound > 92%, diagnostic sensitivities against polymerase chain reaction (PCR)–confirmed malaria for HRP2, Pf LDH, Pv LDH, and Pan LDH were 93.5%, 80.4%, 21.3%, and 55.6%, respectively. The half-life of pLDH was significantly less than that of HRP2 in thermal stability studies. Results with DBS samples collected from Peru indicate that the uncontrolled storage conditions of DBS can result in inaccurate reporting for infection with P. falciparum parasites with hrp2/3 deletions. With careful consideration that minimizing the unfavorable DBS storage environment is essential for ensuring integrity of heat-labile Plasmodium antigens, DBS samples can be used as an alternative to liquid whole blood to detect P. falciparum with hrp2/3 deletions in malaria surveillance.

Neonatal screening for biotinidase deficiency in north eastern italy

1988 ◽  
Vol 147 (3) ◽  
pp. 317-318 ◽  
Author(s):  
A. B. Burlina ◽  
W. G. Sherwood ◽  
M. V. Marchioro ◽  
B. Dalla Bernardina ◽  
D. Gaburro
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency ◽  
North Eastern

Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots

1981 ◽  
Vol 113 (2) ◽  
pp. 111-121 ◽  
Author(s):  
Jeanette R. Crossley ◽  
Patricia A. Smith ◽  
Brian W. Edgar ◽  
Peter D. Gluckman ◽  
Robert B. Elliott
Keyword(s):  
Cystic Fibrosis ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Immunoreactive Trypsin ◽  
Blood Spots

scholarly journals A ‘Dilute and Shoot’ Liquid Chromatography-Mass Spectrometry Method for Multiclass Drug Analysis in Pre-Cut Dried Blood Spots

2021 ◽  
Vol 18 (6) ◽  
pp. 3068
Author(s):  
Lucia Mainero Rocca ◽  
Nunziata L’Episcopo ◽  
Andrea Gordiani ◽  
Matteo Vitali ◽  
Alessandro Staderini
Keyword(s):  
Whole Blood ◽  
Occupational Safety ◽  
Method Development ◽  
Beta Blockers ◽  
Dried Blood Spots ◽  
Drug Analysis ◽  
Triple Quadrupole Mass Spectrometer ◽  
Blood Spots ◽  
Accuracy And Precision ◽  
Study Results

Drugs able to affect the auditory and nervous systems and consumed by workers to treatdifferent pathologies can represent a possible source of risk in the work environment. All the target compounds involved in the presented project show ototoxic and/or narcoleptic side effects and, for these reasons, occupational safety organizations have recognized them as potential causes of work injuries. A multiclass method for the analysis of 15 drugs among the most widespread worldwide (belonging to nine different classes including antihistamines, beta-blockers, antidepressants, Z-drugs and opioids), was developed and validated. This study describes a rapid, sensitive and effective method to analyse these substances in whole blood using tailored pre-cut dried blood spots. Detection was achieved with a triple quadrupole mass spectrometer after an easy and simple ‘dilute and shoot’ solubilisation followed by an UPLC separation. All the issues linked to the use of the dried blood spots and whole blood, such as haematocrit variability, volumetric evaluation and sample carrier choice were carefully studied and managed during method development. From the validation study results it emerged that this approach can be deemed successful thanks to its few pg µL−1 LOQs, good linear intervals, absolute recoveries of no less than 75%, an almost negligible matrix effect and accuracy and precision in line with the European and American guidelines for validation. All the obtained goals have been specifically pursued in order to encourage method diffusion as a primary prevention intervention, even in small private workplaces.

Should phosphatidylethanol be currently analysed using whole blood, dried blood spots or both?

2019 ◽  
Vol 57 (5) ◽  
pp. 617-622 ◽  
Author(s):  
Van Long Nguyen ◽  
Michael Fitzpatrick
Keyword(s):  
Whole Blood ◽  
Blood Cells ◽  
Dried Blood Spots ◽  
Storage Conditions ◽  
Ethanol Metabolism ◽  
Clinical Use ◽  
Blood Spots ◽  
Comparative Review ◽  
And Storage

Abstract Phosphatidylethanol (PEth) are phospholipids produced through non-oxidative ethanol metabolism. They accumulate in red blood cells and have been traditionally analysed in whole blood as potential biomarkers for moderate to long-term alcohol consumption. More recently, their analysis in dried blood spots has been gaining favour, namely, due to the ease in sampling, transport and storage conditions required. This paper aims at providing a short comparative review between analysing PEth in whole blood and dried blood spots and the potential pitfalls that researchers may face when setting up PEth testing for clinical use.

Pilot Study of Whole Blood MicroRNAs as Potential Tools for Diffuse Low-Grade Gliomas Detection

2017 ◽  
Vol 38 (3) ◽  
pp. 715-725 ◽  
Author(s):  
Catherine Gozé ◽  
Christelle Reynes ◽  
Lionel Forestier ◽  
Robert Sabatier ◽  
Hugues Duffau
Keyword(s):  
Pilot Study ◽  
Whole Blood ◽  
Low Grade ◽  
Low Grade Gliomas
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