Search

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE -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 PCARE . 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. Genetic screening was performed either by gene panel sequencing or by exome sequencing., Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016 ∗ ), c.3314_3315del (p.Ser1105 ∗ ), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613 ∗ , and p.Arg984 ∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort., Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Víctor R. López-Rodríguez et al.)

A non-segregated kinetic model is proposed to describe a fermentation process of agro-industrial residues derived via cocoa (mucilage juice) by Pichia kudriavzevii . 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. In addition, numerical simulations were compared with the experimental data via residual graphs. The effectiveness of the model was statistically evaluated using dimensionless efficiency coefficients under different initial conditions. A global sensitivity analysis was applied (Fisher's information matrix). The experimental results of the batch reactor showed a maximum ethanol concentration of 29 g/L, with a yield of 0.48 g-ethanol/g-glucose and a productivity of 0.30 g/L h. The method determined that the cell formation coefficient and the specific substrate consumption rate ( θ 1 and θ 2 ) directly influence most of the states of our system. The proposed scheme is particularly suitable to assist in the rational design of cell factory properties or fermentation processes because it can represent the complex biochemistry in more detail and under different initial experimental conditions; the above reveals that the generated model is robust and can be considered for control and optimization purposes.