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 PDFTriazole 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 PDFJ Wound Ostomy Continence Nurs
February 2023
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.