Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.

BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported. METHODS: We undertook a detailed pedigree analysis of four patients within the same family by targeted next-generation sequencing and Sanger sequencing. RESULTS: We identified a novel heterozygous frameshift variant, c.1224delC(p.Pro408ProfsTer31), of IDS in three patients. We defined c.1224delC as a pathogenic variant according to the 2015 guidelines set by the American College of Medical Genetics and Genomics. CONCLUSION: We reported the second Chinese female MPS II patient. We helped to ensure that these two families had healthy babies. Our findings have enlarged the mutational spectrum of IDS, and these findings could be useful for genetic counseling and the prenatal diagnosis of MPS II.

The electrostimulation and scar inhibition effect of chitosan/oxidized hydroxyethyl cellulose/reduced graphene oxide/asiaticoside liposome based hydrogel on peripheral nerve regeneration in vitro.

The application of hollow nerve conduits in the repair of peripheral nerve defects is effected by inferior recovery, and nerve extension is hampered by the scar tissue generated during the repair process. In this study, the filler in hollow nerve conduit, chitosan/oxidized hydroxyethyl cellulose (CS/OHEC) hydrogel loaded asiaticoside liposome and the conductive reduced graphene oxide (rGO) were developed and used to reform the microenvironment for peripheral nerve regeneration. The physiochemical properties of CS/OHEC/rGO/asiaticoside liposome hydrogel were characterized by Fourier transform infrared spectroscopy (FTIR), scanning electron microscopy (SEM), and compressive modulus, porosity, swelling ratio, degradation and conductivity. In addition, the asiaticoside release profiles in vitro were investigated. The hydrogel had a continuous porous network structure with pore size distribution in the range of 50-250 µm. The majority of the hydrogels had porosities above 70%, and a compressive modulus of 0.45 MPa. The weight loss rate of hydrogel reached 76.14 ± 4.45% within 8 weeks. The conductivity of the hydrogel was 5.27 ± 0.42 × 10-4 S/cm. The hydrogel was non-toxic and suitable for adhesion and proliferation of nerve cells in vitro. In addition, the application of electrical stimulation after the addition of rGO can promote the differentiation and proliferation of nerve cells, accelerating nerve regeneration. The asiaticoside released from the hydrogel had a significant inhibitory effect on the growth and collagen secretion of fibroblasts, eliminating scars for regenerative nerves, which can promote the function recovery of defected peripheral nerve. Together, these positive results indicate that the hydrogel would be a promising candidate for peripheral nerve regeneration.