Cassidypedersen0865
ObjectiveTo identify the pathogenic gene mutation of two patients with non-syndromic deafness（NSHL）. MethodsTwo patient with NSHL and their parents were selected in the research object. Each participant provided 3-5 mL of peripheral venous blood, which was used to establish a DNA library. Next generation sequencing was used to detect the sequence of the patient's genome, and the sequencing results were compared with the human genome sequence （GRCh）37/hg19. Sanger sequencing was used to verify the parents' genome sequence. Finally the patient's pathogenic gene mutation was confirmed.Amino acid conservatism and single nucleotide polymorphisms of the mutant sites were analyzed using a variety of databases and software. ResultsThe mutation was located to CDH23 gene in the chromosomal location 10q21-q22. Complex heterozygous mutations consist of c. 1343T>C and c. 7991_7993delTCA. Parents are heterozygous carriers of a single mutation. ConclusionThe next generation sequencing technology were used to screen the pathogenic gene mutation of inherited deafness. Combined with the genetic sequencing results of parents, the specific pathogenic gene mutation of deafness patients can be identified. While the pathogenicity of complex heterozygous mutation were explained by various pathogenicity analysis methods.ObjectiveTo explore the therapeutic effect and prognostic risk factors of olfactory neuroblastoma. MethodsRetrospective analysis of clinical data of 31 patients with olfactory neuroblastoma. The Kaplan-Meier method was used for survival analysis to calculate the overall survival rate and progress-free survival rate. ResultsAll 31 patients underwent surgical treatment and 7 patients died, of which 4 patients died of simple intracranial invasion and 3 patients died of concurrent distant metastasis （lung and spinal cord）. The average death time was 40.7 （20-57） months. Statistical analysis showed that craniocerebral invasion （P=0.035）, age ≥60 years （P=0.042）, and Ki-67≥20%（P=0.018） were closely related to the poor prognosis. It is speculated that the increase of T staging and modified Kadish staging are also predictors of poor prognosis. The 1-year and 5-year overall survival rates were 100.0% and 72.5%, and the 1-year and 5-year progress-free survival rates were 87.8% and 33.6% after first surgery. ConclusionSurgery combined with radiotherapy and chemotherapy are the main treatments for olfactory neuroblastoma, but postoperative recurrence and metastasis are common. About 22.6% of the patients died during the follow-up. Advanced age, intracranial invasion and Ki-67≥20% are closely related to poor prognosis. The tumor was completely removed by the initial surgery and restricted in nasal cavity and sinuses are the key factors for a good prognosis.ObjectiveTo investigate the roles of nasal nitric oxide（nNO） in diagnosis and endotypes of CRSwNP. MethodsEighty-two CRSwNP patients and thirty healthy volunteers were recruited for this study. The patients were classified into eosinophilic CRSwNP （Eos CRSwNP） and non-eosinophilic CRSwNP （non-Eos CRSwNP） endotypes by tissue eosinophil percentage. nNO levels were measured with an electrochemical sensor-based device. nNO levels and clinical factors were compared among the groups. Receiver-operating characteristic （ROC） curve and logistic regression analyses were performed to evaluate the predictive ability of the nNO for diagnosis and endotypes of CRSwNP. ResultsEos CRSwNP patients（143.9±106.2） ×10-9 had lower nNO levels than non-Eos CRSwNP[（228.3±109.2） ×10-9, P=0.000 9） and healthy subjects（366.5±88.0） ×10-9, P less then 0.000 1）. Patients with atopy exhibited significantly higher levers of nNO compared with patients without atopy（P less then 0.05）. For Eos CRSwNP diagnosis, nNO had the highest predictive value（AUC 0.939; sensitivity 76.74%; specificity 96.67%; cut-off value 231×10-9, P less then 0.001）. Furthermore, nNO levels were associated with CRSwNP endotypes（odds ratio 1.010; 95% confidence interval 1.003%, 1.016%; P=0.002）. When the nNO concentration was 158 ×10-9, we could discriminate Eos CRSwNP from non-Eos CRSwNP（AUC=0.710, sensitivity 76.92%; specificity, 60.47%, P=0.001）. After it was combinated by nNO, periphera blood eosinophil count（PEAC） and VAS score, the AUC was increased to 0.894（95%CI=0.807 to 0.951, P less then 0.000 1, sensitivity 76.74%, specificity 89.74%）. ConclusionnNO may has potential for non-invasive diagnosis and endotype of CRSwNP. nNO combined with PEAC and VAS score may be an ideal diagnostic tool for endotyps of Eos CRSwNP. However, the atopic status of the patients influenced the levels of nNO.ObjectiveTo compare the effect on hearing of different reconstruction material in type Ⅱ tympanoplasty. MethodsRetrospectively analysis of 286 patients who accepted type Ⅱ tympanoplasty. The air-bone gap of 0.5, 1, 2, 4 kHz was analyzed before and after operation. We compared the hearing change and the complications between each group. ResultsIn incus group, the manubrium mallei and the head of stapes were connected with shaped incus, PORP group were implanted with PORP during operation, and cartilage group used auricular cartilage to cover the head of stapes. There was no significant difference in 4 kHz air-bone gap（ABG） between the cartilage group and PORP group either before or after the operation （P>0.05）. Air-bone gap of 0.5, 1, 2, 4 kHz of the incus group, and the 0.5, 1, 2 kHz of the cartilage and PORP group were significantly reducedafter the operation（P less then 0.05）. One patient got severe sensorineural hearing loss in incus group after the operation. The high frequency of bone conduction decreased in 1 patient（2, 4 kHz）.In the incus group, 3 patients had temporary facial paralysis after operation. Incus and cartilage group each have 1 patient with dizziness after the operation. Incus, cartilage and PORP group had 5, 3 and 11 patients with perforation again respectively. There was extrusion occurred in 1 patient of PORP group. ConclusionSelf incus, cartilage and PORP can be used in typeⅡ tympanoplasty, the effect of hearing reconstruction is similar. The first two are more economical, PORP implantation has the lowest technical difficulty and the most widely application, but there is a certain risk of extrusion .Objective To study whether the warm/cold air injection sequence affects the test results in the caloric test, and provide a basis for the specification and quality control of the caloric test. MethodsVideo nystagmography and warm and cold air stimulation apparatus were applied for caloric test. Thirty healthy volunteers （60 ears） were divided into two groups of 15 （30 ears） each. The first group was given cold air stimulation followed by warm air stimulation, and the second group was given heat followed by cold. The differences in nystagmus maximal slow phase velocity （SPV）, semicircular canal paresis （CP） and dominant preponderance （DP） were compared between the two groups of subjects under different perfusion sequences of caloric test. ResultsThe intensity of nystagmus evoked by subjects in group 1 （cold first and then warm） and group 2 （warm first and then cold） were similar. Paired t-test showed that intra-group analysis of the SPV values of the two groups, comparison of the intensity of nystagmus evoked by different temperatures of the same ear or different sides of ear with the same temperature, the difference was not statistically significant （all P>0.05）. Independent samples t-test showed that between-group analysis of SPV values of two groups, the intensity of nystagmus induced by the same and different temperature stimuli in the ipsilateral ear, the difference was not statistically significant （all P>0.05）. Independent samples t-test showed that the CP values of the two groups were analyzed between groups, and the difference was not statistically significant （all P>0.05）. Independent samples t-test showed that DP values of both groups were in the normal range and the difference was not statistically significant （all P>0.05）. ConclusionDifferent perfusion sequences of warm and cold air do not affect the results of caloric tests, and the order of warm and cold air stimulation is not the normative and quality control research direction of caloric test.ObjectiveTo summarize and analyze the feasibility, safety and efficacy of parapharyngeal space surgery assisted by coblation and endoscopic system with transoral approach. MethodsThe data of 20 patients with parapharyngeal space tumors were retrospectively analyzed. All the patients underwent CT and/or MRI examination before surgery, and all underwent transoral approach assisted by coblation and endoscopic systems. The patients were followed up strictly after the operation, with a follow-up time of 8-56 months and the median follow-up time of 28 months. find protocol ResultsAmong the 20 patients, 18 （90%） were pathologically benign tumors and 2 （10%） were malignant tumors. The maximum tumor diameter was （4.4±1.6） cm, the operative time was （79.00±30.03） min, the intraoperative blood loss was （23.63±22.20） mL, and the postoperative pain VAS score was 2.8±1.4. There were 17 cases complete resection, and 3 cases of relapse, including 1 patient who died after distant metastasis of synovial sarcoma postoperative complications occurred in 2 cases, hoarseness in 1 case of neurofibroma and tongue extension deflection in 1 case of schwannoma. ConclusionCoblation assisted endoscopic system for the treatment of parapharyngeal space tumors with transoral approach has no cervical scar, which is a satisfaction for the patients, less intraoperative bleeding, short operative time, mild postoperative reaction and quick recovery. However, external approach is still recommended for primary malignant lesions, extensive or highly vascularized lesions, tumors located on the lateral side of the internal carotid artery, less than 2 cm from the skull base, or lateral invasion of the deep lobe of the parotid gland, or a pleomorphic adenoma is considered or is found to be too large to be completely resected preoperatively or intraoperatively.ObjectiveTo explore the gender difference of clinical features in patients with obstructive sleep apnea hypopnea syndrome （OSAHS）, and explore the relationship between OSAHS and gender. Methods4499 patients with OSAHS were examined by polysomnography （PSG） and Epworth sleepiness scale （ESS）. Subjects were divided into mild, moderate and severe groups according to the severity of OSAHS. The results were compared and analyzed between male and female patients. ResultsThe ESS score of female patients was lower than that of male, and difference was still significant in moderate and severe subgroups[8.0（4.0, 13.0） vs 10.0（5.0, 15.0）, P less then 0.05]. The apnea hypopnea index（AHI） of female patients was significantly lower than that of male patients[22.8（11.6, 43.1） vs 35.7（16.5, 61.3）, P less then 0.05]. Compared with male patients, female patients had older age, smaller neck circumference, smaller body mass index（BMI） and higher lowest oxygen saturation （LSaO2）, and the difference mentioned above was most significant in severe subgroup（P less then 0.
