Validation and analysis of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To verify the accuracy and effectiveness of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome(EVAS), and to provide a reference for genetic detection strategy of EVAS. Methods: From August 2016 to February 2018, 15 patients with EVAS and 60 normal controls were detected by Goldengate high-throughput deafness detection chip developed by our team, and the results were verified by Sanger sequencing. SLC26A4 gene sequencing was carried out in all the patients with EVAS. Results: 12/15 of patients with EVAS were detected mutations of SLC26A4 gene. Nine mutations were detected by chip detection and SLC26A4 gene direct sequencing, seven of which were detected by both methods. The chip could detect 93.33%(28/30) of the allele information provided by SLC26A4 gene direct sequencing. In addition to SLC26A4 gene, mutations of GJB2, PCDH15, TMC1, MYO6 and mitochondrial genes were detected in 15 patients with EVAS. These results were verified by Sanger sequencing. Conclusion: Goldengate high-throughput deafness gene chip possesses the traits of wide coverage and high accuracy, which can be used as a preliminary detection method for patients with EVAS.

Clinical study of muscular rehabilitation after sagittal split ramus osteotomy / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the effect of muscular rehabilitation on recovery after sagittal split ramus osteotomy.</p><p><b>METHODS</b>Twenty-seven patients undergoing sagittal split ramus osteotomy received passive motion training and muscle endurance training after surgery using the new-developed mouth-opening trainer. The passive motion training began 2-3 days after the removal of inter-maxillary elastraction. The instrument was inserted into the inter-maxillary space for 5 min per time, 3-4 times per day. When the mouth opening reached a range of 20-25 mm, the muscle endurance training initiated. The results of the training were compared with another 20 cases who received the same surgery.</p><p><b>RESULTS</b>The mouth opening of the patients who received muscular rehabilitation achieved the pre-surgical level 4 weeks after surgery [(34.72 ± 3.75) mm], the bite force reached the pre-surgical level 8 weeks after surgery [(231.08 ± 62.52) N], but in the 20 cases without training the mouth opening [(28.42 ± 4.11) mm] in 4 weeks and the bite force in 8 weeks [(210.90 ± 73.40) N] were lower after surgery than before surgery.</p><p><b>CONCLUSIONS</b>The systematic and standard muscle function training, accompanied with the use of the new-developed mouth-opening trainer could improve the functional recovery of the patients who receive sagittal split ramus osteotomies.</p>