Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity.

Mutational Profile and Retinal Phenotypes of -Related Cone-Rod Dystrophies in a Mexican Cohort.

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with -related retinal disease.

Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in . Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging.

A novel kinetic model for a cocoa waste fermentation to ethanol reaction and its experimental validation.

A non-segregated kinetic model is proposed to describe a fermentation process of agro-industrial residues derived cocoa (mucilage juice) by . The novel proposed hybrid model is based on a multiple coupling reaction mechanisms (structured) to describe the kinetics of substrate consumption, biomass, carbon dioxide, and ethanol, coupled to an unstructured model for the activity enzyme. The parameters of the kinetic model are estimated by non-linear least-squares curve fitting using the Marquardt-Levenberg algorithm.