RESUMO
OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3).@*METHODS@#Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3.@*RESULTS@#The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant.@*CONCLUSION@#The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.
Assuntos
Humanos , Criança , Mutação , Doenças Autoimunes do Sistema Nervoso/genética , Malformações do Sistema Nervoso/genéticaRESUMO
Objective:To explore the effect of swallowing training combined with respiratory intervention on the swallowing function and early neurodevelopment of preterm infants.Methods:Sixty-two preterm infants in neonatal intensive care were randomly divided into a study group of 30 and a control group of 32. All received routine treatment and nursing care plus touching, but the study group was additionally provided with swallowing and respiratory training. The duration of gastric tube use was observed, and a 20-item neonatal behavioral neurological assessment (NBNA) was administered at 40 weeks of corrected gestational age.Results:The average period of gastric intubation in the study group [(56.27±22.26) days] was significantly shorter than the control group′s average [(68.97±23.96) days]. The study group′s average NBNA score was significantly higher. Moreover, the NBNA scores were significantly negatively correlated with the intubation times.Conclusions:Swallowing training combined with respiratory intervention can improve the swallowing function of preterm infants, shorten the time a gastric tube is needed, and improve their early neurodevelopment.