A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the RNU4ATAC gene. Its transcript, the small nuclear RNA U4atac, is involved in the excision of ~850 minor introns.

Education differences in blood pressure trajectories by sex through midlife: Findings from the National Health and Nutrition Examination Survey, 1999-2018.

Objective: Although it has long been established that age and sex play a role in blood pressure levels across the lifespan, the extent to which educational attainment moderates these relationships has been understudied. Thus, the purpose of this study was to assess educational differences in SBP, DBP, and pulse pressure (PP) trajectories among men and women through the midlife years.

Method: We conducted an analysis of pooled data from the 1999 to 2018 National Health and Nutrition Examination Survey to assess whether education moderates blood pressure measurements among men and women over the midlife years.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently there are no diagnostic biomarkers for the condition. This study aims to define an episignature biomarker for teratogenic antenatal exposure to valproate.

Ostomy Information on the Internet-Is It Good Enough?

Purpose: The aim of this study was to determine which internet search engines and keywords patients with ostomies utilize, to identify the common websites using these terms, to determine what aspects of information they wanted, and to perform a quality and readability assessment for these websites.

Design: A cross-sectional survey of persons with ostomies to identify search engines and terms, followed by a structured assessment of the quality and readability of the identified web pages.

Subject And Settings: The sample comprised 20 hospitalized patients with ostomies cared for on a colorectal surgical ward of a tertiary care hospital located in Melbourne, Australia.