Publications by authors named "J H Johnston"

GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.

View Article and Find Full Text PDF

Background: The COVID-19 pandemic demonstrated the global need for accessible content to rapidly train health care workers during health emergencies. The massive open access online course (MOOC) format is a broadly embraced strategy for widespread dissemination of trainings. Yet, barriers associated with technology access, language, and cultural context limit the use of MOOCs, particularly in lower-resource communities.

View Article and Find Full Text PDF

Background: There is growing interest in using high-dose rifampin for tuberculosis treatment. Recent studies suggest that triple-dose rifampin (TDR; ≥30 mg/kg/day) may be unsafe. We updated a systematic review to investigate the safety and efficacy of TDR.

View Article and Find Full Text PDF

Plasma, milk and tissue samples were collected from 30 dairy cattle (0.4 to 8.9 years of age) with lifetime exposures to perfluoroalkyl substances (PFAS) removed from a PFAS-contaminated farm and provided PFAS-free feed and water.

View Article and Find Full Text PDF

It is now possible to generate large volumes of high-quality images of biomolecules at near-atomic resolution and in near-native states using cryogenic electron microscopy/electron tomography (Cryo-EM/ET). However, the precise annotation of structures like filaments and membranes remains a major barrier towards applying these methods in high-throughput. To address this, we present TARDIS (ransformer-bsed apid imensionless nstance egmentation), a machine-learning framework for fast and accurate annotation of micrographs and tomograms.

View Article and Find Full Text PDF