Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns

Graham, Carrie; Sista, Ramakrishna S.; Kleinert, Jairus; Wu, Ning; Eckhardt, Allen E.; Bali, Deeksha; Millington, David S.; Pamula, Vamsee K.

doi:10.1016/j.clinbiochem.2013.09.003

Cited by 14 publications

(16 citation statements)

References 7 publications

(8 reference statements)

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“…61,62 Interfering compounds have been noted, some of which include ampicillin, bilirubin, hemoglobin, and glutathione. 62 A published comparison suggests that the fluorescence method using biotinyl-6-aminoquinoline as the substrate was slightly more specific and sensitive than the colorimetric assay.…”

Section: Newborn Screening For Biotinidase Deficiencymentioning

confidence: 99%

“…61 Szabó and colleagues recently published a liquid chromatographytandem mass spectrometry based method that involves pretreating filter cards with N-biotinyl-p-aminobenzate to address delayed sample processing. 64 The expansion of available technologies may generate confusion when comparing enzyme activity reports between laboratories.…”

Section: Newborn Screening For Biotinidase Deficiencymentioning

confidence: 99%

See 1 more Smart Citation

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.

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Section: Newborn Screening For Biotinidase Deficiencymentioning

confidence: 99%

Section: Newborn Screening For Biotinidase Deficiencymentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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“…A novel assay to quantify biotinidase concentration in dried blood spots was developed and optimized on the digital microfluidic platform that correctly identifies normal and affected samples from newborn dried blood spots (32). Researchers reported patients at the age of 5, 10, and 11 admitted first time to the hospital for acute visual loss and suspected of BD (33, 34).…”

Section: Discussionmentioning

confidence: 99%

Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency

İşeri-Erten¹,

Dikmen²,

Ulusu³

2016

Journal of Medical Biochemistry

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SummaryBackgroundBiotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. Biotinidase (BTD) catalyzes the recycling of biotin from endogenous and dietary sources. Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences when untreated. The aim of the study was to compare the results of spectrophotometric and fluorimetric methods, as well as to evaluate the advantages and disadvantages of both methods in current research practices.MethodsStudy group was chosen among the BD suspected newborn, children and parents (n = 52) who applied to Hacettepe University Pediatric Metabolism Unit.ResultsBTD activity is stable for 2 hours at room temperature and at 4 °C, and for 4 months at –20 °C and –80 °C. Genetic and clinical results showed that 25% of the total number of patients had complete BD which was treated with 10 mg/day biotin, while 15.38% of the patients had partial BD, and they were prescribed biotin 5 mg/day. The area under the ROC curve was 0.960±0.25 and 0.927± 0.41 for the fluorimetric and spectrophotometric method, respectively. Fluorimetric method showed 100% sensitivity and 97% specificity, whereas spectrophotometric method showed 90.5% sensitivity and 93.7% specificity.ConclusionsFluorimetric method is superior to the spectrophotometric method due to higher sensitivity and specificity.

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“…Recently, it has been demonstrated that very sophisticated bioassays can be performed on a microfluidic chip [3]. This leads to the fact that manual design for digital microfluidic biochips becomes very complex and even impractical.…”

Section: Introductionmentioning

confidence: 99%

ILP-based Synthesis for Sample Preparation Applications on Digital Microfluidic Biochips

Yadav¹,

Dinh

Kitagawa

et al. 2016

2016 29th International Conference on VLSI Design and 2016 15th International Conference on Embedded Systems (VLSID)

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Digital microfluidic biochips have become one of the most promising technologies in many biomedical fields. In a digital microfluidic biochip, a group of (adjacent) cells in the microfluidic array can be configured to work as storage, functional operations, as well as for transporting fluid droplets dynamically. There has been proposed a very efficient Integer Linear Programming (ILP)-based method to schedule operations with considering this dynamic reconfigurability. However, the method cannot directly deal with a case having an operation with multiple successors, which is necessary in some bioassays, e.g., sample preparation applications. Sample preparation is a crucial preprocessing step to produce droplets of the desired target concentrations from input reagents. In every optimized application graphs for sample preparation, there are many operations with more than one successors. Thus, the previous method cannot be used to get an optimal scheduling, and thus we propose a new framework to use another ILP formulation for scheduling operations in a digital microfluidic biochips. Our formulation can successfully deal with a case where there is a node with multiple successors. Also, our method can find a binding solution at the same time unlike the above-mentioned previous one thanks to our new ILP formulation. Although our ILP formulation seems to be a bit more complex than the previous one, a preliminary experiment demonstrates that the proposed ILP formulation can successfully find the optimal scheduling for practical sample preparation applications within a reasonable time.

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Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns

Cited by 14 publications

References 7 publications

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency

ILP-based Synthesis for Sample Preparation Applications on Digital Microfluidic Biochips

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