scholarly journals Measurement of reverse T3 level and the T3 to reverse T3 ratio in dried blood spot samples at birth may facilitate early detection of monocarboxylate transporter 8 deficiency

Thyroid ◽  
2021 ◽  
Author(s):  
Hideyuki Iwayama ◽  
Hiroki Kakita ◽  
Masumi Iwasa ◽  
Shinsuke Adachi ◽  
Kyoko Takano ◽  
...  
Keyword(s):  
Early Detection ◽  
Dried Blood Spot ◽  
Monocarboxylate Transporter ◽  
Reverse T3 ◽  
Blood Spot

scholarly journals Reverse T3 Level and T3 to Reverse T3 Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Diagnosis of MCT8 Deficiency

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A977-A978
Author(s):  
Hideyuki Iwayama ◽  
Hiroki Kakita ◽  
Masumi Iwasa ◽  
Shinsuke Adachi ◽  
Kyoko Takano ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Neurodevelopmental Disorder ◽  
Signs And Symptoms ◽  
Dried Blood Spot ◽  
Monocarboxylate Transporter ◽  
Reverse T3 ◽  
Liquid Chromatography Tandem Mass ◽  
Mct8 Deficiency ◽  
First Time ◽  
Blood Spot

Abstract Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X- chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transporter across cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as inability of standard biomarkers of neonatal screening to make an early diagnosis. Here, we report for the first time the ability to identify MCT8 deficiency at birth using dried blood spot (DBS) samples. Methods: We measured T3, T4, and reverse T3 (rT3) levels in DBS samples obtained at birth in healthy neonates (n = 42) and neonates with genetically confirmed diagnosis of MCT8 deficiency (n = 6). T3, rT3 and T4 levels were measured in 8 mm diameter DBS samples using liquid chromatography-tandem mass spectrometry. Results: Mean ± SD level of T3 tended to be higher in the MCT8 group than that in healthy neonates (0.941 ± 0.183 ng/mL vs. 0.742 ± 0.195 ng/mL, p = 0.0525). More importantly rT3 level in the MCT8 group was significantly lower than that in healthy neonates (0.317 ± 0.065 ng/mL vs. 0.768 ± 0.196 ng/mL, p < 0.0001) and the T3/rT3 ratio in the MCT8 group was significantly higher (3.04 ± 0.67 vs. 1.01 ± 0.34, p < 0.0001) with no overlap of values. T4 was lower in the MCT8 group than in healthy babies (93.4 ± 22.4 ng/mL vs. 156.7 ± 35.9 ng/mL, p < 0.0005) and the T3/T4 ratio of the MCT8 deficient group was higher (0.0105 ± 0.0029 vs. 0.0051 ± 0.0010, p< 0.0001). Conclusion: rT3 and T3/rT3 ratio measured in the DBS obtained from neonates can serve as biomarkers for diagnosis of MCT8 deficiency at birth.

Early detection of human immunodeficiency virus on dried blood spot specimens: Sensitivity across serial specimens

1996 ◽  
Vol 129 (1) ◽  
pp. 111-118 ◽  
Author(s):  
Anne Marie Comeau ◽  
Jane Pitt ◽  
George V. Hillyer ◽  
Sheldon Landesman ◽  
James Bremer ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Early Detection ◽  
Dried Blood Spot ◽  
Immunodeficiency Virus ◽  
Blood Spot

scholarly journals A metabolomic study for chronic heart failure patients based on a dried blood spot mass spectrometry approach

RSC Advances ◽  
2020 ◽  
Vol 10 (33) ◽  
pp. 19621-19628
Author(s):  
Gaowa Zhao ◽  
Dong Cheng ◽  
Yu Wang ◽  
Yalan Cao ◽  
Shuting Xiang ◽  
...  
Keyword(s):  
Heart Failure ◽  
Mass Spectrometry ◽  
Chronic Heart Failure ◽  
Early Detection ◽  
Dried Blood Spot ◽  
Heart Failure Patients ◽  
The Difference ◽  
Metabolomic Study ◽  
Blood Spot ◽  
Metabolomics Analysis

A dried blood spot method with mass spectrometry focused on metabolomics analysis was applied to detect and compare the difference in metabolites between heart failure (HF) patients and non-HF patients in order to facilitate the early detection and treatment of heart failure.

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.

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 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
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