Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

Myelinated Glial Cells: Their Proposed Role in Waste Clearance and Neurodegeneration in Arachnid and Human Brain.

One of the most important goals in biomedical sciences is understanding the causal mechanisms of neurodegeneration. A prevalent hypothesis relates to impaired waste clearance mechanisms from the brain due to reported waste aggregation in the brains of Alzheimer patients, including amyloid-β plaques and neurofibrillary tau tangles. Currently, our understanding of the mechanisms by which waste is removed from the brain is only fragmentary.

Management of Cervical Cerclage after Premature Preterm Rupture of Membranes: An argument for retention: Retention vs Removal of Cerclage after Premature Preterm Rupture of Membranes.

Preterm birth remains the leading cause of infant morbidity and mortality worldwide. Efforts aimed at reducing preterm birth rates have largely focused on mitigating risks in those who have already experienced a preterm delivery. One intervention, the placement of a cervical cerclage, has been shown to reduce the risk of subsequent preterm delivery in the appropriate candidate.

Impact of N-Doping on MoSe Monolayer for PH, CN and HN Gas Sensing: A DFT Study.

In this research, the different characteristics of MoSe and N-doped MoSe monolayers were studied using density functional theory calculations. The negative cohesive energy (-5.216 eV for MoSe and -5.

Cooperative role of LSD1 and CHD7 in regulating differentiation of mouse embryonic stem cells.

Lysine-specific histone demethylase 1 (LSD1) is a histone demethylase that plays a critical role in epigenetic regulation by removing the methyl group from mono- and di-methylated lysine 4 on histone H3 (H3K4me1/2), acting as a repressor of gene expression. Recently, catalytically independent functions of LSD1, serving as a scaffold for assembling chromatin-regulator and transcription factor complexes, have been identified. Herein, we show for the first time that LSD1 interacts with chromodomain-helicase-DNA-binding protein 7 (CHD7) in mouse embryonic stem cells (ESCs).