Advance Care Planning for Children With Rare Diseases: A Pilot RCT.

Background And Objective: Pediatric rare diseases are often life-limiting conditions and/or require constant caregiving. Investigators assessed the initial efficacy of the FAmily CEntered (FACE) pediatric advance care planning (pACP), FACE-Rare, intervention on families' quality of life.

Methods: A pilot-phase, single-blinded, intent-to-treat, randomized controlled clinical trial enrolled families from 1 pediatric quaternary hospital between 2021 and 2023.

All-in-One Pseudo-MS Method for the Analysis of Gas-Phase Cleavable Protein Crosslinking Reactions.

Crosslinking mass spectrometry (XL-MS) supports structure analysis of individual proteins and highly complex whole-cell interactomes. The identification of crosslinked peptides from enzymatic digests remains challenging, especially at the cell level. Empirical methods that use gas-phase cleavable crosslinkers can simplify the identification process by enabling an MS-based strategy that turns crosslink identification into a simpler problem of detecting two separable peptides.

High-Sensitivity Proteome-Scale Searches for Crosslinked Peptides Using CRIMP 2.0.

Crosslinking mass spectrometry (XL-MS) is a valuable technique for generating point-to-point distance measurements in protein space. However, cell-based XL-MS experiments require efficient software that can detect crosslinked peptides with sensitivity and controlled error rates. Many algorithms implement a filtering strategy designed to reduce the size of the database prior to mounting a search for crosslinks, but concern has been expressed over the possibility of reduced sensitivity using these strategies.

Caregiver stress and social determinants of health in key populations: immigrant parents, parents of children with medical complexity, and adolescent parents.

Purpose Of Review: To examine the five domains of social determinants of health - economic stability, education access, healthcare access and quality, neighborhood and built environment, and social and community context - and how these relate to caregiver stress in under-resourced populations.

Recent Findings: Socioeconomic and family factors are increasingly understood as drivers of child health. Caregiver stress can impact family stability and child wellbeing.

Cytoplasmic switch of ARS2 isoforms promotes nonsense-mediated mRNA decay and arsenic sensitivity.

The life of RNA polymerase II (RNAPII) transcripts is shaped by the dynamic formation of mutually exclusive ribonucleoprotein complexes (RNPs) that direct transcript biogenesis and turnover. A key regulator of RNA metabolism in the nucleus is the scaffold protein ARS2 (arsenic resistance protein 2), bound to the cap binding complex (CBC). We report here that alternative splicing of ARS2's intron 5, generates cytoplasmic isoforms that lack 270 amino acids from the N-terminal of the protein and are functionally distinct from nuclear ARS2.