Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...

Accounting for spatial structure within populations is critical for defining appropriate scales of management, particularly in the Arctic, where habitats of ice‐dependent species such as the polar bear ( Ursus maritimus ) are being transformed at an accelerated rate. We examined broad‐scale patterns of space use and finer‐scale habitat selection by adult female polar bears in James Bay, located at the southernmost extent of th...

This study explored the relationship between serum cadmium (Cd), smoking exposure, and migraine in the ELSA-Brasil cohort (2008–2010). The analysis included 2,750 participants whose serum Cd levels were measured using inductively coupled plasma mass spectrometry. Smoking exposure was assessed using self-report data of active smoking and second-hand smoke. Migraine, including definite and probable migraine, was diagnosed accord...