Structural Modification of Polymers Functionalized with Mango Leaf Extract by Supercritical Impregnation: Approaching of Further Food and Biomedical Applications

Identifying new polymers from natural resources that can be effectively functionalized can have a substantial impact on biomedical devices and food preservation fields. Some of these polymers would be made of biodegradable, renewable and compostable materials, and present the kind of porosity required to effectively carry active compounds that confer on them the desired properties for their intended applications. Some natural extracts, such as mango leaf extract, have been proven to have high levels of antioxidant, antimicrobial or anti-inflammatory properties, making them good candidates for controlled-release applications. This work intends to investigate the supercritical impregnation of different types of polymers (ABS, PETG, TPU, PC and PCL) with mango leaf extract. The influence of temperature and pressure on the polymers' structure (swelling and foaming processes) and their different behaviors have been analyzed. Thus, TPU and PC experience minimal structural modifications, while PETG, PCL and ABS, on the other hand, suffer quite significant structural changes. TPU and PETG were selected as the representative polymers for each one of these behaviors to delve into mango leaf extract impregnation processes. The bioactive capacity of the extract is present in either impregnated polymer, with 25.7% antioxidant activity by TPU processed at 35 degrees C and 100 bar and 32.9% antioxidant activity by PETG impregnated at 75 degrees C and 400 ba

Primary Ciliary Dyskinesia and Retinitis Pigmentosa : Novel RPGR Variant and Possible Modifier Gene

We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples. Whole-exome sequencing was conducted to identify potential modifier variants. In vitro studies showed that the mutated RPGR protein could not localise to the cilium and impaired cilium formation. Accordingly, RPGR was abnormally distributed in the siblings' nasal brushing samples. In addition, a missense variant in CEP290 was identified. The concurrent RPGR variant influenced ciliary mislocalisation of the protein. We provide a comprehensive characterisation of motile cilia in this XLRP family, with only the proband presenting PCD symptoms. The variant's pathogenicity was confirmed, although it alone does not explain the respiratory symptoms. Finally, the CEP290 gene may be a potential modifier for respiratory symptoms in patients with RPGR mutations

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples. Whole-exome sequencing was conducted to identify potential modifier variants. In vitro studies showed that the mutated RPGR protein could not localise to the cilium and impaired cilium formation. Accordingly, RPGR was abnormally distributed in the siblings’ nasal brushing samples. In addition, a missense variant in CEP290 was identified. The concurrent RPGR variant influenced ciliary mislocalisation of the protein. We provide a comprehensive characterisation of motile cilia in this XLRP family, with only the proband presenting PCD symptoms. The variant’s pathogenicity was confirmed, although it alone does not explain the respiratory symptoms. Finally, the CEP290 gene may be a potential modifier for respiratory symptoms in patients with RPGR mutations