Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes.

Background: Significant progress has been made in elucidating the genetic underpinnings of Autism Spectrum Disorder (ASD). However, there are still significant gaps in our understanding of the link between genomics, neurobiology and clinical phenotype in scientific discovery. New models are therefore needed to address these gaps.

Emergency laparotomy preoperative risk assessment tool performance: A systematic review.

Background: Preoperative assessment of risk for emergency laparotomy may enhance decision making with regards to urgency or perioperative critical care admission and promote a more informed consent process for patients. Accordingly, we aimed to assess the performance of risk assessment tools in predicting mortality after emergency laparotomy.

Methods: PubMed, Embase, the Cochrane Library and CINAHL were searched to 12 February 2022 for observational studies reporting expected mortality based on a preoperative risk assessment and actual mortality after emergency laparotomy.

Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.

Purpose: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood.

1-Methylxanthine enhances memory and neurotransmitter levels.

1-Methylxanthine (1-MX) is the major metabolite of caffeine and paraxanthine and might contribute to their activity. 1-MX is an adenosine receptor antagonist and increases the release and survivability of neurotransmitters; however, no study has addressed the potential physiological effects of 1-MX ingestion. The aim of this study was to compare the effect of 1-MX on memory and related biomarkers in rats compared to control.

Phase 1 Study of Quercetin, a Natural Antioxidant in Children and Young Adults with Fanconi Anemia (FA).

Fanconi anemia (FA) is a rare inherited disorder characterized by progressive bone marrow failure (BMF) and a predisposition to malignancy. Systemic reactive-oxygen species (ROS) and increased sensitivity of FA hematopoietic progenitors to ROS play a key role in the pathogenesis of BMF. Treatment with antioxidants improve hematopoietic function in Fancc-/- mice.