Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.

Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.

The effect of antimicrobial photodynamic therapy using different concentrations of phycocyanin against Streptococcus mutans.

Background: The aim of this study is to investigate the effect of antimicrobial photodynamic therapy (aPDT) using three different concentrations of phycocyanin and two different laser powers on Streptococcus mutans.

Materials And Methods: In this study, Streptococcus mutans was investigated using three different concentrations of phycocyanin (2.5, 5, and 10 mg/mL), in the presence and absence of 635 nm diode laser at two power levels (400 and 500 mW).

A Comprehensive Protocol for Microbead-Induced Ocular Hypertension in Mice.

Glaucoma is a common optic neuropathy characterized by degeneration of retinal ganglion cells (RGCs). Elevated intraocular pressure (IOP), that is, ocular hypertension, is the primary modifiable risk factor for glaucoma and the primary characteristic of most preclinical glaucoma models. Extensive genotype and phenotype diversity at relatively low cost and high accessibility makes laboratory mice an excellent preclinical model for glaucoma.

A Healthy Dietary Pattern May Have a Protective Effect Against Cardiovascular Disease Through Its Interaction With the MC4R Gene Polymorphism.

Polymorphisms in the melanocortin 4 receptor (MC4R) gene with occurrence and progression of chronic diseases such as obesity and cardiovascular disease (CVD) have long been addressed but there is a lack of evidence for complex interrelationships, including direct and indirect effects of these variables. This review specifically focuses on studying the effects of healthy diet interaction and MC4R polymorphisms on the development of CVD. The quantity and quality of carbohydrates and proteins consumed are related to obesity susceptibility and cardiometabolic risk factors.