Agreement of dried blood spot lyso-Gb3 concentrations obtained from different laboratories in patients with Fabry disease

2020 ◽  
Vol 58 (11) ◽  
pp. e275-e278
Author(s):  
Constantin Gatterer ◽  
Martina Gaggl ◽  
Gerald Mundigler ◽  
Paulus Rommer ◽  
Senta Graf ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Dried Blood Spot ◽  
Blood Spot

scholarly journals Fabry Cardiomyopathy: Current Practice and Future Directions

Cells ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 1532
Author(s):  
Jeffrey Yim ◽  
Olivia Yau ◽  
Darwin F. Yeung ◽  
Teresa S. M. Tsang
Keyword(s):  
Fabry Disease ◽  
Early Stage ◽  
Point Of Care ◽  
Left Ventricular ◽  
The Body ◽  
Cardiac Biomarkers ◽  
Dried Blood Spot ◽  
Point Of Care Ultrasound ◽  
Enzyme Replacement ◽  
Blood Spot

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficient galactosidase A enzyme and subsequent accumulation of glycosphingolipids throughout the body. The result is a multi-system disorder characterized by cutaneous, corneal, cardiac, renal, and neurological manifestations. Increased left ventricular wall thickness represents the predominant cardiac manifestation of FD. As the disease progresses, patients may develop arrhythmias, advanced conduction abnormalities, and heart failure. Cardiac biomarkers, point-of-care dried blood spot testing, and advanced imaging modalities including echocardiography with strain imaging and magnetic resonance imaging (MRI) with T1 mapping now allow us to detect Fabry cardiomyopathy much more effectively than in the past. While enzyme replacement therapy (ERT) has been the mainstay of treatment, several promising therapies are now in development, making early diagnosis of FD even more crucial. Ongoing initiatives involving artificial intelligence (AI)-empowered interpretation of echocardiographic images, point-of-care dried blood spot testing in the echocardiography laboratory, and widespread dissemination of point-of-care ultrasound devices to community practices to promote screening may lead to more timely diagnosis of FD. Fabry disease should no longer be considered a rare, untreatable disease, but one that can be effectively identified and treated at an early stage before the development of irreversible end-organ damage.

scholarly journals Use of dried blood spot samples for SARS-CoV-2 antibody detection using the Roche Elecsys ® high throughput immunoassay

2021 ◽  
Vol 136 ◽  
pp. 104739
Author(s):  
Ranya Mulchandani ◽  
Ben Brown ◽  
Tim Brooks ◽  
Amanda Semper ◽  
Nicholas Machin ◽  
...  
Keyword(s):  
High Throughput ◽  
Dried Blood Spot ◽  
Antibody Detection ◽  
Blood Spot

scholarly journals A surrogate virus neutralization test to quantify antibody-mediated inhibition of SARS-CoV-2 in finger stick dried blood spot samples

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Amelia E. Sancilio ◽  
Richard T. D’Aquila ◽  
Elizabeth M. McNally ◽  
Matthew P. Velez ◽  
Michael G. Ison ◽  
...  
Keyword(s):  
Neutralizing Antibodies ◽  
Venous Blood ◽  
Host Cells ◽  
Dried Blood Spot ◽  
Blood Collection ◽  
Widespread Application ◽  
Live Virus ◽  
Dilution Series ◽  
Wide Range ◽  
Blood Spot

AbstractThe spike protein of SARS-CoV-2 engages the human angiotensin-converting enzyme 2 (ACE2) receptor to enter host cells, and neutralizing antibodies are effective at blocking this interaction to prevent infection. Widespread application of this important marker of protective immunity is limited by logistical and technical challenges associated with live virus methods and venous blood collection. To address this gap, we validated an immunoassay-based method for quantifying neutralization of the spike-ACE2 interaction in a single drop of capillary whole blood, collected on filter paper as a dried blood spot (DBS) sample. Samples are eluted overnight and incubated in the presence of spike antigen and ACE2 in a 96-well solid phase plate. Competitive immunoassay with electrochemiluminescent label is used to quantify neutralizing activity. The following measures of assay performance were evaluated: dilution series of confirmed positive and negative samples, agreement with results from matched DBS-serum samples, analysis of results from DBS samples with known COVID-19 status, and precision (intra-assay percent coefficient of variation; %CV) and reliability (inter-assay; %CV). Dilution series produced the expected pattern of dose–response. Agreement between results from serum and DBS samples was high, with concordance correlation = 0.991. Analysis of three control samples across the measurement range indicated acceptable levels of precision and reliability. Median % surrogate neutralization was 46.9 for PCR confirmed convalescent COVID-19 samples and 0.1 for negative samples. Large-scale testing is important for quantifying neutralizing antibodies that can provide protection against COVID-19 in order to estimate the level of immunity in the general population. DBS provides a minimally-invasive, low cost alternative to venous blood collection, and this scalable immunoassay-based method for quantifying inhibition of the spike-ACE2 interaction can be used as a surrogate for virus-based assays to expand testing across a wide range of settings and populations.

scholarly journals Adapting to telemedicine in the COVID-19 era: Feasibility of dried blood spot testing for hemoglobin A1c

2021 ◽  
Vol 15 (1) ◽  
pp. 433-437
Author(s):  
Alissa J. Roberts ◽  
Faisal Malik ◽  
Catherine Pihoker ◽  
Jane A. Dickerson
Keyword(s):  
Hemoglobin A1c ◽  
Dried Blood Spot ◽  
Blood Spot

Dried Blood Spot Analysis of Donepezil in Support of a GLP 3-month Dose-Range Finding Study in Rats

2012 ◽  
Vol 31 (4) ◽  
pp. 337-347 ◽  
Author(s):  
Susan R. Meier-Davis ◽  
Min Meng ◽  
Weiwei Yuan ◽  
Lisa Diehl ◽  
Fatima M. Arjmand ◽  
...  
Keyword(s):  
Dose Range ◽  
Systemic Exposure ◽  
Pharmacokinetic Profile ◽  
Dried Blood Spot ◽  
Topical Formulation ◽  
Carcinogenicity Study ◽  
Range Finding ◽  
Donepezil Hydrochloride ◽  
Blood Spot

Donepezil hydrochloride is a reversible acetyl cholinesterase inhibitor approved for Alzheimer disease treatment. As an alternate therapy, a donepezil hydrochloride transdermal patch is in development. Recommended nonclinical safety studies include a 3-month Good Laboratory Practice (GLP) dose-range finding (DRF) study prior to conducting the 2-year dermal carcinogenicity study in rats. Demonstration of systemic exposure is necessary to interpret the in vivo data. Previous nonclinical reports supporting oral dosing have utilized liquid chromatography tandem mass spectrometry (LC/MS/MS) to quantify donepezil concentrations in plasma. Smaller species with limited blood volumes do not allow serial sampling to derive the full pharmacokinetic profile from a single animal. Therefore, the option of another analytical method requiring decreased sample volumes is desirable as it would decrease the required number of animals while obtaining the complete profile. The dried blood spot (DBS) technique allows drug level measurement from a few microliters; however, the method is still not widely utilized in GLP studies. Because donepezil plasma levels are known by the oral route, DBS was used to bridge the previous oral data and to support a 13-week GLP DRF study for repeated topical application in rats, comparing oral administration with 4 topical formulations. The DBS method was validated and demonstrated robustness and reproducibility for application to the DRF study. The assay results were comparable to a previously reported plasma LC/MS/MS assay-derived pharmacokinetic profile and provided justification for selection of the topical formulation and dose levels for the subsequent dermal carcinogenicity study.

Mass screening of primary hepatocellular carcinoma by alpha-fetoprotein in a rural area of Taiwan - a dried blood spot method

2008 ◽  
Vol 8 (2) ◽  
pp. 100-104 ◽  
Author(s):  
Jaw-Ching Wu ◽  
Shou-Dong Lee ◽  
Kwang-Jen Hsiao ◽  
Sun-Sang Wang ◽  
Pesus Chou ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Rural Area ◽  
Mass Screening ◽  
Alpha Fetoprotein ◽  
Primary Hepatocellular Carcinoma ◽  
Dried Blood Spot ◽  
Blood Spot
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