Diagnosis of nasopharyngeal carcinoma with convolutional neural network on narrowband imaging / 临床耳鼻咽喉头颈外科杂志

Objective:To evaluate the diagnostic accuracy of the convolutional neural network（CNN） in diagnosing nasopharyngeal carcinoma using endoscopic narrowband imaging. Methods:A total of 834 cases with nasopharyngeal lesions were collected from the People's Hospital of Guangxi Zhuang Autonomous Region between 2014 and 2016. We trained the DenseNet201 model to classify the endoscopic images, evaluated its performance using the test dataset, and compared the results with those of two independent endoscopic experts. Results:The area under the ROC curve of the CNN in diagnosing nasopharyngeal carcinoma was 0.98. The sensitivity and specificity of the CNN were 91.90% and 94.69%, respectively. The sensitivity of the two expert-based assessment was 92.08% and 91.06%, respectively, and the specificity was 95.58% and 92.79%, respectively. There was no significant difference between the diagnostic accuracy of CNN and the expert-based assessment （P=0.282, P=0.085）. Moreover, there was no significant difference in the accuracy in discriminating early-stage and late-stage nasopharyngeal carcinoma（P=0.382）. The CNN model could rapidly distinguish nasopharyngeal carcinoma from benign lesions, with an image recognition time of 0.1 s/piece. Conclusion:The CNN model can quickly distinguish nasopharyngeal carcinoma from benign nasopharyngeal lesions, which can aid endoscopists in diagnosing nasopharyngeal lesions and reduce the rate of nasopharyngeal biopsy.

Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).@*METHODS@#Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.@*CONCLUSION@#Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.

The Clinical Effects of Titanic Artificial Ossicle Replacement in Canal Wall -down or Canal Wall -up Tympanopl asty / 听力学及言语疾病杂志

Objective Tostudytheeffectsoftitanicartificialossiclereplacementincanalwall - downandcanalwall-up tympanoplasty for patients suffering from chronic otitis media .Methods A total of 157 cases (164 ears) un-derwent canal wall-down and canal wall -up tympanoplasty at our hospital from Feburary 2014 to Feburary 2016 were retrospectively analyzed ,in which 50 cases in canal wall down tympanoplasty with titanic ossicle replacement , 49 cases without replacement ,42 cases in canal wall -up tympanoplasty with titanic artificial ossicle replacement , and 23 cases without replacement .The average air bone gaps (ABG) before and 3 months after operations were re-corded and the average reduced ABGs were compared between sub -groups to evaluate the effects of titanic artificial ossicle replacement .Results In the canal wall-down tympanoplasty group ,the mean ABGs of 3 months after oper-ations in the replacement subgroup was 15 .72 ± 11 .18 dB ,the reduced ABGs was 17 .45 ± 5 .23 dB ,and the impro-ving rate for hearing was 71 .54％ ,statistically higher than the non -replacement subgroup(P<0 .05) .In the canal wall-up tympanoplasty group ,the mean ABGs of 3 months after operations in the replacement subgroup was 8 .13 ± 5 .37 dB ,the reduced ABGs was 26 .85 ± 11 .03 dB ,the improving rate for hearing was 75 .12％ ,statistically higher than non-replacement subgroup(P<0 .05) .Conclusion The replacement of titanic artificial ossicle in both of canal wall-down and canal wall-up tympanoplasty is helpful to improve hearing .

An Analysis of Common Gene Mutation Spots of 222 Sensorineural Hearing Loss Patients in Guangxi Province / 听力学及言语疾病杂志

Objective To investigate the characteristics of common deafness genes mutation from 222 sensori-neural hearing loss patients in Guangxi province.Methods A deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes.A total of 222 hearing impaired patients,who were selected from January 2015 to April 2016,were tested.The samples that could not be diagnosed with DNA mi-croarray were subjected to PCR and sequenced to detect other mutations.Results Among the 222 patients with sen-sorineural deafness,the total mutation rate was 10.36% (23/222),including GJB2 235delC homozygous in 3 cases (1.35%),235delC single heterozygous mutation in 8 cases (3.60%),35delG single heterozygous mutation in 2 cases (0.90%),GJB2 235delC and 109 A>G mutations in 2 cases (0.90%),SLC26A4 1229C>T homozygous in 2 case (0.90%),IVS7-2 A>G heterozygous mutation in 2 cases (0.90%);IVS7-2A>G,IVS11+47T>C and 1548 insC mutations in 2 cases (0.90%);GJB3 538C>T heterozygous mutation in 1 cases (0.45%);Mitochondrial 12S rRNA gene heterogeneous mutations in 1 case (0.45%).One of them carry both two mutations:GJB2 235 del C and SLC26A4 1226 G>A.Conclusion The results indicate that GJB2 and SLC26A4 were the main genes in this study,and in Guangxi province the mutation rate is significantly lower than the national average level.3 new muta-tions (SLC26A4 IVS11+47T ! C,1548insC and GJB2 109A>G)were found.There may be some rare mutations among sites or genes caused deafness in Guangxi.

The evaluation of curative effect of radiofrequency thermocoagulation on semilunar ganglion of aged patients with recurrent trigeminal neuralgia / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate curative effect and importance of radiofrequency thermocoagulation onsemilunar ganglion of aged patients with recurrent trigeminal neuralgia.@*METHOD@#112 cases with recurrent trigeminal neuralgia were performed with radiofrequency thermocoagulation on semilunar ganglion by puncture through skin under local anesthesia.@*RESULT@#The maintaining effective duration in 112 cases was 7.3 ± 1.3 years after primary therapy. After the first thermocoagulation, 89.28% (100/112) patients got the relief from pain immediately, 8 (7.14%) cases also recieved the same effect after twice treatment. However two cases (2.6%) had no effects. The total effective rate was 98.21%. During five follow-up years, VAS scores, dose of carbamazepine and satisfaction were better than those before the treatment. The effective rate was still over 57.5% within three years after the treatment. The recurrent risk increased obviously from 40 months after the treatment by Kaplan-Meier method.@*CONCLUSION@#Semilunar ganglion of radiofrequency thermocoagulation was an ideal option for old-age patients with trigeminal neuralgia. It can be performed repeatedly.

Diagnosis and management of jugulare glomus tumor and carotid body tumor / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate diagnosis method and treatment experience of jugulare glomus tumor (JGT) and carotid body tumor (CBT).@*METHOD@#Retrospective analysis. Clinical materials from 4 patients at one genealogy with JGT and CBT were collected. The clinical features, radiological characteristics, surgical methods and prognosis were assessed. The proband suffered from left JGT and left CBT, her younger sister had right CBT as well as her younger female cousin had bilateral CBT and right JGT, her older male cousin had bilateral CBT and left JGT. These JGT and CBT in four patients were resected under general anesthesia after preoperative ultrasound, CT or CT angiography (CTA), MRI, and digital subtraction angiography (DSA) examination as well as preoperative vascular embolization.@*RESULT@#The surgery was uneventful in four cases, and there was no hemiplegia or deaths. All patients were followed up for 2 years to 29 months without recurrence. Six months after operation, the hoarseness also disappeared in the older male cousins but did not improve significantly in younger female cousin. The younger female cousin get right peripheral facial paralysis 1 year after surgery and her temporal bone CT indicated a right JGT.@*CONCLUSION@#It is very important to assess JGT and CBT by Ultrasound, CT, CTA, MRI and DSA. Surgical resection is the first optional treatment for JGT and CBT. Blood loss can be reduced by preop erative vascular embolization. Serious complications could be avoid by operating under microscope, which can supply a clear surgical field and make the surgeon to protect the large blood vessels and nerve.

Study for the histopathologic change of ethmoid bone in patients with chronic rhinosinusitis and its correlation factors / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the histopathologic changes of ethmoid bone and its correlation with clinical types of chronic rhinosinusitis (CRS).@*METHOD@#All ethmoid bones and mucosa from 180 patients with CRS after endoscopic sinus surgery were collected for histopathologic detection with HE staining. The number and the rate of cases were counted according to different histopathologic types. To analyze the correlation between ethmoid bones and clinical types of CRS, mucosal pathologic change, the CT-scanning types of sinusitis, the course of disease as well as operational history.@*RESULT@#The ethmoid bone of all patients had varying degrees of histopathologic changes. There were 5 cases (2.78%) in stage I, 38 cases (21.11%) in stage II, 71 cases (39.44%) in stage III, and 66 cases (36.67%) in stage NIV. The histopathologic changes of ethmoid bone varied in different clinical types. In type I, there were 5 cases (8.33%) in stage I, 33 cases (55.00%) in stage II, 15 cases (25.00%) in stage III, and 7 cases (11.67%) in stage NV. In type I, there were 5 cases (8.33%) in stage II, 37 cases (61.67%) in stage mI, and 18 cases (30.00%) in stage NV. In type III, there were 19 cases (31.67%) in stage III, and 41 cases (68.33%) in stage NV. All histopathologic changes of ethmoid bone were statistically correlated (P < 0.01) with clinical types of CRS, pathologic mucosal change, the CT-scanning types of sinusitis, the course of disease as well as operational history.@*CONCLUSION@#Almost all patients with CRS manifest different-degrees of histopathologic changes, which are correlated with the clinical types of CRS, pathologic mucosal change, the CT-scanning types, the course of disease as well as operational history.

Expression of T-bet in nasopharyngeal associated lymphatic tissue of patients with allergic rhinitis / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the pattern and value of the expression of T-bet in nasopharyngeal-associated lymphatic tissue (NALT) of patients with or without allergic rhinitis (AR).@*METHOD@#T-bet and CD4/T-bet expression in adenoids, tonsils and nasal mucosa was respectively detected with single stain and double stain of immunohistochemistry.@*RESULT@#The positive ratio of T-bet expression in tonsils, adenoids and nasal mucosa between AR group and the control group had statistically different (P < 0.05). There was statistical difference of T-bet expression in tonsils from AR group in three different age groups (P < 0.05). The difference was that T-bet expression in adults group was significantly lower than that in children group and adolescent group. There was no difference of T-bet expression among different age groups in non-AR group. There were some positive expression of CD4 and T-bet in tonsils, adenoids and nasal mucosa from two groups and most positive expression of T-bet on CD4 positive cell.@*CONCLUSION@#T-bet expression was down-regulated in NALT of patients with AR. T-bet expression of NALT is associated with allergic mucosal inflammation and functional status of NALT, as well as the weak Th1 response at the level of transfer factor in local mucosa of respiratory tract in AR patients.

Expression of T-bet in peripheral blood and its relation with serum IgE in patient with allergic rhinitis / 免疫学杂志

Objective To investigate T-bet mRNA expression on peripheral blood mononuclear cells (PBMCs) and its relations with allergen specific IgE (SIgE), eosinophile cationic protein (ECP) levels, and allergic symptom in patients with allergic rhinitis (AR). Methods The allergen, SIgE, and ECP in serum of patients with AR were detected by Unicap CAP system. Blood samples were taken from 15 healthy controls and 35 house dust mite allergic patients. PBMC was isolated by density gradient centrifugation and one part of them was cultured with mite allergen at a concentration of 50 μg/mL. PBMC was subjected to analysis of T-bet mRNA expression using semiquantitative reverse transcriptase-polymerase chain reaction (RT-PCR). Results The ratio of T-bet to β-actin mRNA levels was 0.418 ± 0. 101 in patients of AR and 0.706 ± 0.091 in healthy controls and the difference was significant (P ＜ 0.01). The expression intensity of T-bet mRNA was not related to varying severity of allergic symptom and ECP levels ( r = - 0.227, - 0.033, P ＞ 0.05). However, there was an inverse correlation between expression intensity of T-bet mRNA and SIgE concentration (r = -0.375, P ＜ 0.05). There was a positive correlation between SIgE and allergic symptom scores ( r = 0.426, P ＜ 0.05). After that PBMC was stimulated by mite allergen, the expression intensity of T-bet mRNA, ECP, and SIgE changed very little ( P ＞ 0.05). Conclusion Down-regulated expression of T-bet mRNA in mite-AR patients is not related to serum ECP and symptom scores but one of important links in the mechanism of imbalance of Th1/Th2 in the occurrence of AR. Specific allergen has no effect on T-bet mRNA, ECP, and SIgE of children and adults with AR in vitro. The level of SIgE objectively and directly indicates the severity of allergic symptom, but T-bet did not. T-bet may be one of indirect factors which affect the level of IgE.