Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing.

Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time and overall cost of testing. In this study, we used long-read sequencing (lrSeq) as a proof-of-concept to determine whether clinically relevant (cr) SVs could be detected within a small (n = 17) pediatric leukemia cohort.

"Being proactive, not reactive": exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations.

Genetic testing is becoming an integral part of healthcare, but evidence suggests that both race and ethnicity influence access to and utilization of genetic testing. Given this barrier, data are needed on the perceptions of genetic testing in racial and ethnic minority groups. The purpose of this study was to explore the perceptions of three types of genetic testing (genetic testing for adult-onset conditions, prenatal screening, and newborn screening) in a sample of US participants who identified as White, Pacific Islander, and Latinx (10 dyads from each group for 60 participants total).

Women's Experiences With Palliative Care During Pregnancy.

Objective: To explore the experiences of women who received life-limiting fetal diagnoses during pregnancy and support from a perinatal palliative care program.

Design: Descriptive qualitative.

Setting: The perinatal palliative care program is part of a not-for-profit system of 24 hospitals serving the U.

Mitochondrial lipid droplet formation as a detoxification mechanism to sequester and degrade excessive urothelial membranes.

The apical surface of the terminally differentiated mammalian urothelial umbrella cell is mechanically stable and highly impermeable, in part due to its coverage by urothelial plaques consisting of 2D crystals of uroplakin particles. The mechanism for regulating the uroplakin/plaque level is unclear. We found that genetic ablation of the highly tissue-specific sorting nexin Snx31, which localizes to plaques lining the multivesicular bodies (MVBs) in urothelial umbrella cells, abolishes MVBs suggesting that Snx31 plays a role in stabilizing the MVB-associated plaques by allowing them to achieve a greater curvature.