Activity

ively.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.Objective To study the influencing factors of DNA double-strand breaks (DSB) repair capacity and relationship with differentiated thyroid cancer (DTC). Methods A total of 140 patients with thyroid diseases admitted to the Henan Cancer Hospital from January 2020 to March 2020 were retrospectively analyzed, including 26 males and 114 females, aged from 18 to 78 years old. According to the pathological results, the patients were divided into DTC group (90 cases) and control group or benign thyroid nodules (BTN) group (50 cases). The DSB repair ability of peripheral blood T lymphocytes was measured by flow cytometry. The data of two groups were compared by Wilcoxon rank sum test to evaluate the relationship between DSB repair ability and the risk of DTC. According to the median repair ability of DSB in BTN group, the repair ability of DSB was divided into high and low categories, and the factors influencing the repair ability of DSB were analyzed by Logistic regression method. SPSS 22.0 software was used to analyze the data. Rapamycin chemical structure Results The DSB repair capacity was 27.87% in DTC group and 36.75% in BTN group, with significant difference (Z=-3.999,P less then 0.05). Logistic regression analysis suggested that patients with thyroid cancer had lower DSB repair capacity than patients without cancer (OR=2.245; 95%CI 1.067-4.725; P=0.033), and patients with a history of radiation exposure had a reduced DSB repair capacity (OR=2.698; 95%CI 1.271-5.725, P=0.010). Conclusion The risk of DTC increases in patients with low DSB repair capacity. Radiation exposure is a risk factor for the reduction of DSB repair capacity.Objective To investigate the correlation between Notch pathway expression in nasal polyps and Treg percentage and Eos infiltration. Methods Patients with chronic sinusitis and simple nasal septum deviation who received nasal endoscopic surgery in the Third Affiliated Hospital of Sun Yat-Sen University between November 2012 and August 2018 were selected and enrolled in CRS group and control group respectively. Nasal mucosa tissues were collected from 30 CRSsNP patients (14 males and 16 females aged from 18 to 63), 58 CRSwNP patients (38 males and 20 females aged from 18 to 65) and 29 patients (19 males and 10 females aged from 20 to 57), who underwent nasal endoscopic surgery for correction of simple nasal septum deviation. Hematoxylin-eosin(HE) staining was used to observe the infiltration of eosinophilic granulocytes in the tissues and to classify chronic sinusitis with polyps (CRSwNP) into eosinophilic chronic rhinosinusitis with nasal polyps (Eos-CRSwNP)and non-eosinophilic chronic rhinosinusitis with nasatly lower frequency of CD4+CD25+Foxp3+Treg cells (F=13.140, all P less then 0.01). The expression of Notch-l and Jagged-l in Eos-CRSwNP was significantly higher than that of the controls, CRSsNP patients and non-Eos-CRSwNP patients (F=5.953/F=6.380, P less then 0.05). In the nasal polyp group, the expression of Notch-l and Jagged-l showed significantly negative correlation with Foxp3 (r=-0.611/-0.346, all P less then 0.05), and positive correlation with Th2 cytokines (IL-4, IL-5, IL-13) and ECP, respectively (r=0.781/0.459,0.621/0.601,0.605/0.490,0.464/0.668, all P less then 0.05). There was no significant difference in the expression of receptor and ligand of the other Notch pathway among the groups. Conclusion Abnormal activation of Notch-l/Jagged-l pathway may be involved in decreasing Treg ratio in Eos-CRSwNP, thereby promoting Th2 inflammatory response and Eosinophil infiltration.Objective To summarize clinical features and our experience of the diagnosis and treatment of pediatric nasal neuroglial heterotopia (NGH). Methods Clinical data of 13 nasal NGH patients in Beijing Children’s Hospital from August 2014 to October 2019 were retrospectively reviewed, including 9 boys and 4 girls, aged from 1 to 38 months with median age of 5 months. Radiological workups and excision of nasal NGH under general anesthesia were performed for all patients. B ultra-sound and MRI were performed for all external and mixed lesions, while ultra-low-dose CT scan and MRI for all intranasal type. Surgical approaches were dependent on location and extent of the lesions according to radiographic workup, including extranasal or transnasal endoscopic approach. Patients were followed up regularly after operation to evaluate the effect. Initial presentation, locations, imaging findings, surgical approaches and follow-up results were analyzed through descriptive statistical method. Results Eight nasal NGH patients presented with an internal nasal mass and nasal obstruction, which belonged to intranasal type. Three patients presented with an external nasal mass which belonged to extranasal type and 2 patients had mixed lesions. The sites included nasal dorsum (n=5), anterior to the middle turbinate (n=5) and olfactory cleft (n=3). Surgical resections were done through median rhinotomy approach (n=5) or transnasal endoscopic approach (n=8). All the operations were successful and no complication occurred. All cases were followed up from 3 to 65 months. No recurrence was encountered. Conclusions Nasal NGH is a rare lesion with atypical clinical presentation. Preoperative imaging including CT scan and MRI is essential for evaluation of the location, extent of the disease and for making the surgical plan. Treatment requires complete surgical excision.