Three-dimensional (3D) silk fibroin scaffolds were modified with one of the
major bone tissue derivatives (nano-hydroxyapatite) and/or a collagen
derivative (gelatin). Adhesion and proliferation of mouse embryonic fibroblasts
(MEF) within the scaffold were increased after modification with either
nano-hydroxyapatite or gelatin. However, a significant increase in MEF adhesion
and proliferation was observed when both additives were introduced into the
scaffold. Such modified composite scaffolds provide a new and better platform
to study wound healing, bone and other tissue regeneration, as well as
artificial organ bioengineering. This system can further be applied to
establish experimental models to study cell-substrate interactions, cell
migration and other complex processes, which may be difficult to address using
the conventional two-dimensional culture systems.
Porous scaffolds of silk fibroin and composite porous scaffolds with 10, 20, 30, 40, and 50% gelatin were made by the freezing-thawing method. The relationship between adhesion and proliferation rate mouse embryo fibroblast and the scaffold composition was studied by laser confocal scanning microscopy. Addition of gelatin to the scaffold structure stimulated adhesion and proliferation of mouse embryo fibroblasts; the optimal content of gelatin was 30%.
A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene. The clinical presentation was similar to the severe phenotype described in previous studies. Conclusions: In this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy.
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