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.

Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province.@*METHOD@#Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations.@*RESULT@#Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.

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.

Revision endoscopic sinus surgery for recurrent sinusitis / 中国耳鼻咽喉头颈外科

OBJECTIVE To study the causes of recurrent sinusitis and polyps after endoscopic sinus surgery and discuss the relative factors to affect the outcome of revision endoscopic sinus surgery. METHODS Revision endoscopic sinus surgery were performed on 54 cases with recurrent sinusitis and polyps by using the Messerklinger technique and Stryker debrider. RESULTS Follow-up for more than 6 months, 34 cases were cured (63.0 %) and 14 improved (25.9 %) with the total effective rate of 88.9%. The other 6 cases were ineffective (11.1%). Among 54 cases, orbital hematoma occurred in 1 patient after operation, but no cerebrospinal fistula and other serious complication occurred. CONCLUSION Sufficient and appropriate perioperative treatment, being familiar with the important anatomic structures and mastering excellent endoscopic surgical skill are the keys to improve the effective rate of revision endoscopic sinus surgery.