Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model.

Background: Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a formylglycine-generating enzyme (FGE) that activates 17 different sulfatases. MSD patients show common features of other lysosomal diseases like mucopolysaccharidosis and metachromatic leukodystrophy, including neurologic impairments, developmental delay, and visceromegaly.

Creating personas for exposome research: the experience from the HEAP project.

The exposome is a complex scientific field that has enjoyed consistent growth over the last two decades, defined as the composite of every exposure to which an individual is subjected from conception to death. The study of the exposome requires consideration of both the nature of those exposures and their changes over time, and as such necessitates high quality data and software solutions. As the exposome is both a broad and a recent concept, it is challenging to define or to introduce in a structured way.

BIBBOX, a FAIR toolbox and App Store for life science research.

Data quality has recently become a critical topic for the research community. European guidelines recommend that scientific data should be made FAIR: findable, accessible, interoperable and reusable. However, as FAIR guidelines do not specify how the stated principles should be implemented, it might not be straightforward for researchers to know how actually to make their data FAIR.

Using mobile technology in assessment of entrustable professional activities in undergraduate medical education.

Background: The adoption of competency-based medical education requires objective assessments of a learner's capability to carry out clinical tasks within workplace-based learning settings. This study involved an evaluation of the use of mobile technology to record entrustable professional activity assessments in an undergraduate clerkship curriculum.

Approach: A paper-based form was adapted to a mobile platform called eClinic Card.

An Unexpectedly Broad Thermal and Salinity-Tolerant Estuarine Methanogen Community.

Moderately thermophilic (T, ~55 °C) methanogens are identified after extended enrichments from temperate, tropical and low-temperature environments. However, thermophilic methanogens with higher growth temperatures (T ≥ 60 °C) are only reported from high-temperature environments. A microcosm-based approach was used to measure the rate of methane production and methanogen community structure over a range of temperatures and salinities in sediment from a temperate estuary.