Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency
BMC MEDICAL GENETICS
Authors: He, Wen-Bin; Tan, Yue-Qiu; Hu, Xiao; Li, Wen; Xiong, Bo; Luo, Ke-Li; Gong, Fei; Lu, Guang-Xiu; Lin, Ge; Du, Juan
Abstract
Background: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. Methods: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes. PGD and preimplantational genetic screening (PGS) were employed to exclude monogenic disorders and aneuploidy for their embryos. Results: ECS using targeted capture sequencing technology revealed that the couple carried the heterozygous disease- causative mutations c.3659C > T (p.Thr1220Ile) and c.3209G > A (p.Arg1070Gln) in the CFTR gene. After PGD and PGS, one of their embryos that was free of congenital FVII deficiency, cystic fibrosis (CF) and aneuploidy was transferred, resulting in the birth of a healthy 3200 g male infant. Conclusion: We successfully implemented PGD for congenital FVII deficiency and PGD after ECS to exclude CF for the first time to the best of our knowledge. Our work significantly improved the reproductive outcome for the couple and provides a clear example of the use of ECS combined with PGD to avoid the delivery of offspring affected not only by identified monogenically inherited diseases but also by other potential monogenic pathologies and aneuploidy.
Removal of the commercial reactive dye Procion Blue MX-7RX from real textile wastewater using the synthesized Fe2O3 nanoparticles at different particle sizes as a source of Fenton's reagent
NANOSCALE ADVANCES
Authors: Tony, Maha A.; Mansour, Shehab A.
Abstract
The aim of the present study was to signify the role of the particle size of an iron source in the photo- Fenton system for textile dyeing wastewater oxidation. In this respect, a facile synthesis of Fe2O3 nanoparticles (Fe2O3 NPs) via a simple sol- gel route using FeCl3 with different molarities was investigated. The XRD patterns confirmed the formation of Fe2O3 nanoparticles. Furthermore, different molar concentrations of the FeCl3 precursor significantly influenced the size and shape of the nanoparticles. The treatment of wastewater effluents containing the reactive dye Procion Blue MX- 7RX from a real textile dyeing facility, was investigated using the synthesized Fe2O3 NPs as a source of the Fenton's reagent photocatalyst. The reaction was initiated and enhanced using an artificial UV source for increasing the cOH radical yield. System parameters such as the initial dye load in wastewater, H2O2 and Fe2O3 NP concentrations, pH and the working temperature were investigated for process optimization. The quality of water in this investigation was examined by making measurements of chemical oxygen demand (COD), total suspended solids (TSS) and dye removal which decreased during the illumination time. The effects of different Fe2O3 NPs based on the varying precursor solution molarities namely F1, F3, F5 and F7 on the wastewater remediation were investigated, and the optimum Fe2O3 NPs were found to be F1, which exhibited the highest dye removal value of 83% and a chemical oxygen demand (COD) reduction of 88%. Furthermore, the oxidation kinetics of the Procion Blue dye were studied, and the data were well fitted with the second order kinetics. Finally, the thermodynamic parameters including the changes in the Gibbs free energy of activation, entropy of activation and enthalpy of activation for the Procion Blue oxidation with different Fenton's reagent sources under ultraviolet light illustrated that the reaction was non- spontaneous and endothermic.