Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Purpose: To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene.

Methods: Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography and electroretinography. Genetic analyses included exome, genome and Sanger sequencing.

Perceived neighborhood built environment and physical activity in urban population in Chile.

Background: Various indicators of neighborhood environmental perceptions are differently associated with physical activity (PA) domains, with notable variations by sex. However, few studies in Latin America have examined these associations across distinct PA domains. In this study, we analyzed the relationship between neighborhood environmental perceptions and PA in the domains of transportation and leisure among Chilean adults.

Bedmap3 updated ice bed, surface and thickness gridded datasets for Antarctica.

We present Bedmap3, the latest suite of gridded products describing surface elevation, ice-thickness and the seafloor and subglacial bed elevation of the Antarctic south of 60 °S. Bedmap3 incorporates and adds to all post-1950s datasets previously used for Bedmap2, including 84 new aero-geophysical surveys by 15 data providers, an additional 52 million data points and 1.9 million line-kilometres of measurement.

Building HOPE: Integrating community-based doula care in public hospitals in New York City.

Maternal morbidity and mortality in the United States is an urgent public health issue, and there are stark differences by race and ethnicity. Community-based doula care is an evidence-based strategy to improve maternal health through accompaniment, health care engagement, addressing social needs, and promoting respectful care. Yet, there is a gap in access to doula care for people who are low-income or publicly insured, due to cost and availability.

Small nucleolar RNAs: the hidden precursors of cancer ribosomes.

Ribosomes are heterogeneous in terms of their constituent proteins, structural RNAs and ribosomal RNA (rRNA) modifications, resulting in diverse potential translatomes. rRNA modifications, guided by small nucleolar RNAs (snoRNAs), enable fine-tuning of ribosome function and translation profiles. Recent studies have begun linking dysregulation of snoRNAs, via rRNA modifications, to tumourigenesis.