Retinal Dystrophy Associated with Homozygous Variants in .

: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic Allele.

Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.

A randomized controlled trial of Native CHOICES: Impact on alcohol-exposed pregnancy risk reduction among American Indian and Alaska Native women.

Background: Prevention of alcohol-exposed pregnancy (AEP) involves reducing risky alcohol consumption among women at-risk for pregnancy, using effective contraception among women drinking at risky levels to prevent pregnancy, or both. This study presents the outcomes of a randomized controlled trial assessing the efficacy of Native CHOICES, a culturally tailored adaptation of the CHOICES intervention, among American Indian/Alaska Native (AI/AN) women.

Methods: AI/AN women aged 18-44 who were at-risk for an AEP were randomly assigned in a 1:1 ratio to either the Native CHOICES intervention or a waitlist control group.

An outbreak of dengue virus type 3 on Mer Island in the Torres Strait, Australia in 2024.

In early 2024, there were eight confirmed cases of locally acquired dengue on Mer Island in the Torres Strait. This dengue outbreak prompted an in-community public health response which included active case finding, health promotion and vector control. This was the first detected dengue outbreak in the Torres Strait since 2017.