Publications by authors named "H M Snell"

The primary episodic ataxias (EAs) are a group of autosomal-dominant disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion or emotional stress and variably associated with progressive baseline ataxia. There are now nine designated subtypes EA1-9 (OMIM) and late onset cerebellar ataxia with episodic features as newly designated SCA27B, based largely on genetic loci. Mutations have been identified in multiple individuals and families in 4 of the 9 EA subtypes, mostly with the onset before adulthood.

View Article and Find Full Text PDF

Triazole antifungals function as ergosterol biosynthesis inhibitors and are frontline therapy for invasive fungal infections, such as invasive aspergillosis. The primary mechanism of action of triazoles is through the specific inhibition of a cytochrome P450 14-α-sterol demethylase enzyme, Cyp51A/B, resulting in depletion of cellular ergosterol. Here, we uncover a clinically relevant secondary mechanism of action for triazoles within the ergosterol biosynthesis pathway.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates how climate change factors, specifically reduced snow cover and shrub expansion, affect nutrient cycling in alpine grasslands, which are experiencing warming at twice the global average.
  • The combination of these factors significantly disrupts the seasonal coupling of plant and soil microbial nitrogen cycling, leading to substantial decreases in plant nitrogen uptake and soil microbial biomass during critical seasonal periods.
  • Overall, these disruptions hinder the ability of alpine ecosystems to retain nitrogen and maintain plant productivity, raising concerns for their resilience under ongoing climate change.
View Article and Find Full Text PDF
Article Synopsis
  • The strain from the two patients (P0 and P1) was traced back to the Middle East, with whole-genome sequencing confirming high genetic similarity, highlighting the effectiveness of genomic analysis in tracking infections.
  • Notably, P1 showed signs of colonization 41 to 61 days after possible exposure to P0, despite three negative screenings, suggesting that current screening methods may need revisions to better detect long-term incubations of C. auris.
View Article and Find Full Text PDF

Purpose: The purpose of this study was to identify barriers and facilitators for nurses in a pressure injury prevention (PIP) link nurse role.

Design: Mixed-methods study that used nominal group technique with focus groups, followed by online surveys.

Sample And Setting: The PIP link nurse project recruited 52 RNs; 32 completed the PIP educational program and participated in data collection.

View Article and Find Full Text PDF