Variability of Clinical Presentation in Patients Heterozygous for the F508del Cystic Fibrosis Variant: A Series of Three Cases and a Review of the Literature.

Cystic fibrosis (CF) is a genetic disease that affects the lung, pancreas, and other organs caused by the presence of biallelic CF-causing variants in the cystic fibrosis conductance regular gene (CFTR). CFTR variants can also be found in CFTR-related disorders (CFTR-RD), which present milder symptoms. Increasing access to next-generation sequencing has demonstrated that both CF and CFTR-RD have a broader array of genotypes than formerly thought. Here we present three patients who carry the most common CFTR pathogenic variant - F508del - but express a wide array of phenotypes. These cases open discussion on the role of concurrent variants in CFTR, the importance of early diagnosis and treatment, and the contribution of lifestyle factors in CF and CFTR-RD presentation.

Sentinel Riparian Spiders Predict Mercury Contamination of Riverine Fish.

Mercury (Hg) is a widespread and toxic environmental contaminant. It is challenging to determine the level of Hg contamination of food chains and fish within the millions of water bodies in the United States. Mercury contamination can vary 10-fold between ecosystems, even those in the same region. Therefore, aquatic ecosystems need to be individually monitored for Hg contamination to determine which ecosystems are most contaminated and pose the greatest risk to human and wildlife health. One approach to monitoring Hg is to use sentinel species, defined as biological monitors that accumulate a contaminant in their tissues without significant adverse effects. Riparian spiders such as long-jawed orb weavers (Tetragnathidae) have been proposed as sentinels of persistent bioavailable contaminants, like Hg, in aquatic systems. Long-jawed orb weavers feed on emergent aquatic insects and have concentrations of Hg that reflect levels of Hg contamination in the aquatic food web. Previous studies have documented elevated contaminant concentrations in long-jawed orb weavers from shorelines of aquatic ecosystems, suggesting that they could be used as sentinels of chemical contaminants in aquatic ecosystems. We demonstrate for the first time that long-jawed orb weavers can be used as sentinels to identify aquatic systems that contain fish with elevated concentrations of Hg. Environ Toxicol Chem 2022;41:1297-1303. © 2022 SETAC.