Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

Wildlife trade investigations benefit from multivariate stable isotope analyses.

The investigation of wildlife trade and crime has benefitted from advances in technology and scientific development in a variety of fields. Stable isotope analysis (SIA) represents one rapidly developing approach that has considerable potential to contribute to wildlife trade investigation, especially in complementing other methods including morphological, genetic, and elemental approaches. Here, we review recent progress in the application of SIA in wildlife trade research to highlight strengths, shortcomings, and areas for development in the future.

Water, Solute, and Ion Transport in De Novo-Designed Membrane Protein Channels.

Biological organisms engineer peptide sequences to fold into membrane pore proteins capable of performing a wide variety of transport functions. Synthetic de novo-designed membrane pores can mimic this approach to achieve a potentially even larger set of functions. Here we explore water, solute, and ion transport in three de novo designed β-barrel membrane channels in the 5-10 Å pore size range.

Outcomes of permanent pacemakers and implantable cardioverter-defibrillators in an adult congenital heart disease population.

Background: Brady- and tachyarrhythmias commonly complicate adult congenital heart disease (ACHD). Permanent pacemakers (PPMs) or implantable cardioverter-defibrillators (ICDs) are often utilised to prevent morbidity or mortality related to arrhythmia, but can also be associated with significant morbidity themselves.

Methods: We analysed outcomes from patients in our comprehensive ACHD database who were seen at least twice since 2000 and once since 2018.

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.

Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for , , and .