Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS) from 50 patients with genetically confirmed inherited metabolic disorders (IMDs) and 50 control samples. One hundred IMD-related genes were analyzed.

Biological sex does not influence the peak cardiac output response to twelve weeks of sprint interval training.

Sprint interval training (SIT) increases peak oxygen uptake (V̇O) but the mechanistic basis is unclear. We have reported that 12 wk of SIT increased V̇O and peak cardiac output (Q̇) and the changes in these variables were correlated. An exploratory analysis suggested that Q̇ increased in males but not females.

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in .

Non-canonical splice site variants are increasingly recognized as a relevant cause of the -associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing has only been functionally verified for a subset of these variants. In this study, we aimed to extend the knowledge regarding splicing events by assessing a selected set of non-canonical splice site variants and to study their potential pathogenicity.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP).

Patient satisfaction, needs, and preferences concerning information dispensation at the emergency department: a cross-sectional observational study.

Background: Patient satisfaction is an important indicator of emergency care quality and has been associated with information dispensation at the emergency department (ED). Optimal information dispensation could improve patient experience and expectations. Knowing what kind of information patients want to receive and the preferred way of information dispensation are essential to optimize information delivery at the ED.