Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.

Application of real-time trend monitoring data collected schemata of intensive nursing records / 中国实用护理杂志

To introduce a trend chart electronic nursing record sheet which takes the real-time data acquisition and monitoring module as the core technology, and observes its characteristics and advantages in clinical application. At the same time, it makes a prospect for the information construction of the critical care record. The module can acquire and upload monitoring data of monitor and ventilator in real time, automatically and completely. The data can be extracted according to the setting frequency and uploaded to the hospital information system (HIS). In the corresponding position of the intensive care record Generate dynamic change trends and save the monitoring data in the database, and the data can be stored for a long time. The application of real-time data acquisition module can save indirect nursing time and improve the nursing efficiency, meanwhile, the whole monitoring data is of great significance to the research and medical records analysis.