Screening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study)
Yamauchi et al.
The finding, in our words
In a prospective multicentre cohort of 724 patients undergoing sleep studies, no definitive late-onset Pompe disease cases were confirmed among those completing confirmatory testing, with seven screen-positive patients declining further testing; the findings underscore the need for sleep physicians to maintain vigilance for underlying myopathies such as late-onset Pompe disease.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Dried blood spot collection proved feasible during parabolic flight, with seventeen of twenty volunteers successfully providing samples for caffeine pharmacokinetic profiling. The method yielded stable metabolic ratios between ground and weightless conditions, and participants reported high satisfaction, suggesting DBS could support therapeutic drug monitoring in remote or extreme environments such as long-term spaceflight.
Derobertmasure et al., British journal of clinical pharmacology · source ↗
This study demonstrated that a fully remote genome sequencing study using self-collected dried blood spots and buccal swabs is feasible for individuals with Prader-Willi syndrome, with all participants completing the study and reporting the process was easy despite being lengthy. The design successfully returned actionable genetic findings, including those related to blood clot formation, to participants.
Vrana-Diaz et al., Genetics in medicine open · source ↗
The TaqPath kit performed well for HIV drug resistance testing from dried blood spots in samples with high viral loads, meeting WHO criteria for sensitivity and mutation detection, but showed reduced sensitivity at lower viral loads below 5000 copies/mL. This supports the use of DBS for decentralised HIV monitoring in resource-limited settings, though caution is needed when viral load is low.
Okafor et al., Journal of virological methods (paywalled) · source ↗
Across four international studies evaluating genomic newborn screening in over 10,800 infants, dried blood spots reliably supported DNA extraction for integration into screening workflows. The screen-positive rate ranged from 1.6% to 3.7%, with glucose-6-phosphate dehydrogenase deficiency emerging as the most prevalent condition.
Stark et al., American journal of human genetics (paywalled) · source ↗
A term newborn died at 4 days; newborn screening by tandem mass spectrometry on a dried blood spot indicated mitochondrial trifunctional protein or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, and genetic analysis of the same DBS identified two HADHA variants, confirming the diagnosis; the authors review early neonatal deaths from fatty acid oxidation disorders and discuss limitations of newborn screening for these conditions, highlighting the role of DBS-based screening and post-mortem genetic testing in decentralised diagnostics.
Drole Torkar et al., International journal of neonatal screening · source ↗