EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Effects of a low-cost prosthetic knee on amputee gait over uneven and even terrains.

Limited data are available related to using a low-cost prosthetic knee while walking. To address this gap, this study compared the performance of a low-cost prosthetic knee with 2 more advanced prosthetic knees while walking on even and uneven terrains. Two adult subjects with above-knee amputations completed walking trials using a low-cost prosthetic knee (ReMotion knee) and their personal prosthetic knees (Ottobock 3R60 Pro mechanical knee and Ossur Rheo microprocessor knee) over even and uneven terrains.

Grasshoppers do not flee from their alarmed predators but from non-alarmed ones.

Alarm calls produced by basal prey have a well-known informative value. In multi-predator communities, mesopredators, when faced with top predators, may emit alarm calls that could inform basal prey about their lowered predation risk. To test this unexplored possibility, we conducted one field and one mesocosm experiment in which we simulated alarm and non-alarm calls from little owls () as mesopredators and measured their effects on grasshoppers as prey of little owls but not of top predators.

Age and gender differences in the perception and use of soft vs. rigid exoskeletons for manual material handling.

We investigated age and gender differences in the perception and use of soft (Apex) vs. rigid (Paexo Back) passive back-support exoskeletons (BSE) for repetitive lifting and lowering. A gender-balanced sample of 20 young (18-30 years) and 16 old (45-60 years) individuals were recruited.

An Open One-Step RT-qPCR for SARS-CoV-2 detection.

The COVID-19 pandemic has resulted in millions of deaths globally, and while several diagnostic systems were proposed, real-time reverse transcription polymerase chain reaction (RT-PCR) remains the gold standard. However, diagnostic reagents, including enzymes used in RT-PCR, are subject to centralized production models and intellectual property restrictions, which present a challenge for less developed countries. With the aim of generating a standardized One-Step open RT-qPCR protocol to detect SARS-CoV-2 RNA in clinical samples, we purified and tested recombinant enzymes and a non-proprietary buffer.