The phospholipid bilayer-coated aluminum nanoparticles (PLANs), formed via chemisorption, were prepared by reverse ethanol injection-lyophilization (REIL) utilizing the phosphophilicity of aluminum. The anhydrous antigen-loaded PLANs obtained by REIL proved stable, satisfying using the controlled-temperature-chain instead of the integrated cold-chain for distribution, and could be rehydrated to reconstitute instantly an aqueous suspension of the antigen-PLANs, which were more readily taken up by antigen-presenting cells and, when given subcutaneously to mice, induced more robust antigen-specific humoral and cellular immunoresponses but less local inflammation than the antigen-alum. Thus, the PLANs are a useful vaccine adjuvant-delivery system with advantages over the widely used naked alum.
The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary subunit for the glycosylation reactions in mammals. To date, 25 disease-causing mutations of NUS1 have been reported, which are responsible for various diseases, including dystonia, Parkinson's disease, developmental and epileptic encephalopathy as well as congenital disorder of glycosylation. In addition, only 9 of these mutations were reported with detailed clinical features. There are no reports about Chinese cases with MRD55. In this study, a novel, de novo pathogenic variant of NUS1 (c.51_54delTCTG, p.L18Tfs*31) was identified in a Chinese patient with intellectual disability and epileptic seizures. This pathogenic variant resulted in truncated NgBR proteins, which might be the cause of the clinical features of the patient. Oxcarbazepine was an effective treatment for improving speech and movement of the patient, who consequently presented with no seizure. With this novel pathogenic variant found in NUS1, we expand the genotype spectrum of MRD55 and provide valuable insights into the potential genotype-phenotype correlation.
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