Outcome of fetuses with early increased nuchal translucency: systematic review and meta-analysis

Objective: Nuchal translucency (NT) has been the mainstay of the first-trimester screening assessment for fetal aneuploidies. Although NT is typically measured between 11 and 14 weeks' gestation when fetal crown–rump length (CRL) is between 45 and 85 mm, recent studies suggest that fetuses with increased NT measured in the early first trimester of pregnancy are also at high risk of aneuploidy, genetic disorders or adverse pregnancy outcomes. The aim of this systematic review was to report the...

Production and characterization of bioaerogel particles from strawberries and their application as oil structuring ingredient in low-saturated fat cocoa spreads

Bioaerogels bear high potential in the development of fat-replacers, due to their oil-structuring capacity. However, current aerogel preparation from biopolymeric gels requires a complex and resource-intensive process, which might limit their adoption as oil-structuring food ingredients. A simpler and more sustainable process to produce bioaerogels could be based on their direct preparation from plant tissues rather than from biopolymeric gels. Similar to gels, also in plant tissues, water is...

Psychological Interventions Tailored to the Needs of Individuals With Hearing and Visual Impairments: What Do We Know and What Should We Do? A Commentary on “A Systematic Review and Meta-Analysis of Psychological Interventions for Persons With Hearing or Vision Impairment: Research Gaps and Call to Action”

Genomic modifiers of neurological resilience in a Niemann-Pick C family

Niemann-Pick type C (NPC) disease, caused by NPC1 or NPC2 variants, disrupts cholesterol and glycolipid trafficking, leading to diverse clinical manifestations. To understand the genetic basis of neurological resilience, we analyzed an NPC family with variable phenotypes, identifying loss-of-function variants in CCDC115, SLC4A5, DEPDC5, ETFDH, SNRNP200, and DOCK1 that co-segregated with milder neurological involvement. Using yeast models, we successfully predicted NPC-like severity based on o...