Objective To investigate the variation of genes associated with Usher syndrome type 1(USH1)in 136 Chinese deafness families from Henan province. Methods The data of 136 deafness families tested by next-generation sequencing(NGS) which identified in the center of genetics and prenatal diagnosis of the First Affiliated Hospital of Zhengzhou University from November 2016 to December 2019 were analysized and the variation frequency of six genes related to Usher syndrome type 1(MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2) were summarized. Results Five deafness families were detected nine pathogenic or likely pathogenic variations in two genes, accounting for 3.7% of all families. Among them, four families were caused by MYO7A variations and one family was caused by CDH23 variation. Meanwhile, seven variations of two genes were reported for the first time. They were c.313delG, c.5257dupA, c.5435A>T, c.5636G>C, c.5722T>G of MYO7A, and c.155_166del, c.4802delA of CDH23. https://www.selleckchem.com/products/SU11274.html The patients' vision of family 2 and family 3 had no obvious abnormality at present, but according to genetic diagnosis and walking dealy, they were considered to be USH1. Conclusions MYO7A is the most common caustive gene associated with USH1 in Henan deafness patients, the application of next-generation sequencing technology can make USH1 patients diagnosed earlier before the visual symptoms appear.Objective To explore the effect of perioperative airway management based on the concept of enhanced recovery after surgery (ERAS) on the improvement of preoperative pulmonary function in patients with aspirin intolerance triad (AIT). Methods Thirty patients with AIT (including 13 males and 17 females, aged from 29 to 75 years old) for sinus surgery from January 2018 to December 2019 were selected, 172 patients (including 105 males and 67 females, aged from 17 to 83 years old) with chronic rhinosinusitis with nasal polyps (CRSwNP) without lower airway disease were selected by random number table at the same period, and their clinical data and preoperative pulmonary function were analyzed and compared retrospectively. FEV1%pred less then 80% after bronchodilation test was considered as high risk for surgery. Preoperative evaluation and standardized drug intervention were applied in patients with pulmonary function abnormalities at risk for surgery, and improvement of preoperative pulmonary function and tolerabin the two groups before surgery were significantly improved compared with those at admission respectively ((90.00±6.32)% vs. (64.79±13.60)%,t value was 10.110 in AIT group; (91.65±11.86)% vs. (76.40±9.35)%, t value was 9.346 in CRSwNP group; all P less then 0.05), and also FEV1/FVC%pred, FEF50%pred, FEF75%pred and MMEF%pred were all significantly improved (all P less then 0.05). Surgery was completed successfully in the two groups of patients with lung function meeting the surgical standard, and no intraoperative or postoperative airway adverse events occurred. Conclusion AIT patients have high airway risk for sinus surgery due to poor pulmonary function. Standardized airway management based on the concept of ERAS can improve the pulmonary function of patients, and decrease the incidence of perioperative airway adverse events.Objective To explore the application value of enhanced recovery after surgery (ERAS) with the multidisciplinary team (MDT) model in laryngeal cancer surgery. Methods Eighty patients with laryngeal cancer treated in Department of Otorhinolaryngology Head and Neck Surgery of Yantai Yuhuangding Hospital from May 2016 to June 2017 were selected, including 76 males and 4 females, aged 45 to 75 years old. By random number table method, they were divided into ERAS group (40 cases) and control group (40 cases). Visual analogue scale (VAS), general comfort questionnaire (GCQ) and self-rating Anxiety Scale (SAS) were used to evaluate the symptoms and signs and psychological state of the two groups before and after operation. Mann Whitney U test was used for non-normal distribution data, and chi square test, Fisher exact probability method and covariance analysis were used for classification data. Repeated measures analysis of variance was used for the comparison of each group at different time points. Results Two casesary ERAS in laryngeal cancer surgery can improve preoperative hunger and thirst, postoperative pain and mental state, shorten the length of hospital stay and reduce postoperative adverse reactions.Objective To investigate the safety and efficacy of enhanced recovery after surgery (ERAS) in the clinical management of hypopharyngeal squamous cell carcinoma (HSCC). Methods In this retrospective study, a total of 168 patients with pyriform sinus carcinoma in Qilu Hospital of Shandong University from January 2015 to January 2019 were divided into two groups, based on the different perioperative interventions that patients received, i.e. the ERAS group (n=64) and the conventional group (n=104), including 164 males and 4 females, whose ages ranged from 42 to 84 years old. The difference between two groups in the operative time, postoperative nutritional status, incidences of postoperative complications and postoperative hospitalization time were compared using the student's t test, Chi-squared test or Fisher's exact test. Results Compared with the conventional group, patients in the ERAS group had significantly shorter operative time [(166.8±58.2) min vs. (183.3±39.9) min,t=-2.72, P=0.031], higher levels of postoperative serum albumin [(38.3±4.2) μmol/L vs. (36.6±3.3) μmol/L, t=2.73, P=0.007] and more body weight [(65.4±9.4) kg vs. (62.1±9.4) kg, t=2.22, P=0.028], lower incidences of postoperative subcutaneous infection [7.8% (5/64) vs. 20.2% (21/104), χ²=4.64, P=0.03] and severe pneumonia [4.7% (3/64) vs. 15.4% (16/104), χ²=4.52, P=0.03], and shorter postoperative hospitalization time [(16.5±3.9) d vs. (18.2±4.3) d, t=-2.65, P less then 0.05]. Conclusion ERAS is effective and safe in the surgical management of HSCC, with benefits in reducing the operative stress via saving operation time, shortening the hospitalization time, ameliorating nutritional status and decreasing the incidences of complications.