Direct analysis of dried blood spots coupled with mass spectrometry: concepts and biomedical applications [PDF]
, 2018 Because of the emergence of dried blood spots (DBS) as an attractive alternative to conventional venous plasma sampling in many pharmaceutical companies and clinical laboratories, different analytical approaches have been developed to enable automated ...
Déglon, Julien +3 more
core
Morphological detection of X- and Y-chromosomes in smears and paraffin-embedded tissues using a non-isotopic in situ hybridization technique (NISH) [PDF]
, 1994 Pharyngeal smears and paraffin-embedded tissue specimens (skeletal muscle, kidney) obtained from 10 male and 10 female individuals were evaluated using non-isotopic in situ hybridization (NISH) with commercial X- and Y-specific biotinylated probes which ...
Baretton, G. +4 more
core +1 more source
RNA sequencing of archived neonatal dried blood spots
Molecular Genetics and Metabolism Reports, 2017 Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and ...
Bybjerg-Grauholm, Jonas +8 more
openaire +3 more sources
Health of Philippine Emigrants Study (HoPES): study design and rationale. [PDF]
, 2018 BackgroundImmigrants to the United States are usually healthier than their U.S.-born counterparts, yet the health of immigrants declines with duration of stay in the U.S.
Brindle, Eleanor +8 more
core +1 more source
Detection of MicroRNAs in Dried Serum Blots [PDF]
, 2010 MicroRNAs are short RNAs which can be utilized as biomarkers for a variety of conditions. They are detectable in serum, and changes in the levels of circulating microRNAs have been associated with different diseases.
Reema Mallick +2 more
core +2 more sources
Untargeted metabolomics on dried blood spots
, 2023 Blood micro-sampling was initially used in hospitals to screen newborns for congenital diseases; today, this type of sampling is increasingly used in clinical studies. Analysed mainly using targeted methods, few studies report results using an open metabolomics approach.
Lagrée, Marie +3 more
openaire +1 more source
Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
core
Early changes in pro-inflammatory cytokine levels in neonates with encephalopathy are associated with remote epilepsy. [PDF]
, 2019 BackgroundNeonatal seizures are associated with adverse neurologic sequelae including epilepsy in childhood. Here we aim to determine whether levels of cytokines in neonates with brain injury are associated with acute symptomatic seizures or remote ...
Barkovich, A James +6 more
core
Total Cholesterol Determination Accuracy in Dried Blood Spots
DiagnosticsBackground Detecting total cholesterol in dried blood spots could aid in identifying individuals with a high likelihood of familial hypercholesterolemia and could be used as a screening measure. This study aims to assess the diagnostic accuracy of dried blood spots on Whatman 903 paper cards using a manual enzymatic technique.
Elena Bonet Estruch +5 more
openaire +3 more sources
Molecular Genetics and Metabolism ReportsEach year thousands of babies are born with rare genetic disorders not identified by current NBS panels, due to programs which are not yet optimal. Next-generation sequencing technologies have the potential to overcome many NBS drawbacks and provide ...
Alessia Mauri +10 more
doaj +1 more source