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.

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.

Clinical analysis of 17 patients with relapsing polychondritis / 中国医师进修杂志

Objective To enhance the level of the diagnosis and treatment of relapsing polychondritis(RP).Methods Clinical data of 17 patients of RP were studied retrospectively. Results Of the patients,ear was involved in 16 cases, nose in 10 cases, laryngotracheobronchial region in 9 cases, eyes in 8 cases, joints in 4 cases, cardiovascular system in 1 case.Of 17 cases-1 died from respiratory complications. Fifteen patients had recurrence over twice,1 patient had sixth recurrence. Conclusions RP is rare autoimmune system disease, early clinical manifestation are nontypical, misdiagnosis and missed diagnosis. Corticosteroids, immunosuppressive agents, dapsone and surgical operation are used in these patients to control symptoms.

The diagnosis and treatment of relapsing polychondritis (a case report) / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To enhance the understanding of the diagnosis and treatments of relapsing polychondritis (RP).@*METHOD@#We present a 37-years-old woman with RP, and review the literatures.@*RESULT@#Initial presenting symptoms of the patient was auricle perichondritis. The patient was diagnosed as sudden deafness firstly. After 2 months, she consulted otolaryngologists at second time with a variety of involvement of the ear, nose, larynx or heart. She was diagnosed as relapsing polychondritis finally.@*CONCLUSION@#RP was rare autoimmune system disease, early clinical manifestation were atypical, misdiagnosis and diagnostic errors usually occurred. Corticosteroids, immunosuppressive agents, dapsone and surgical operation could be used in these patients to control symptoms.

Facial nerve root combing scraping for hemifacial spasm / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the effective intracranial surgical method for hemifacial spasm which can be operated more safely and easily.@*METHOD@#Twenty-five cases of hemifacial spasm underwent intracranial facial nerve root combing scraping by improved retrosigmoid approach. The compressing vessels were found in 10 cases and could be removed easily. Both microvascular decompression and facial nerve root combing scraping were performed to reduce recurrence. The other cases with perforating artery or without any compressing vessels underwent the facial nerve root combing scraping and cutting off partially for about 1/6 to approximately 1/5 neural fibers.@*RESULT@#Hemifacial spasms were obliterated in 22 cases (88%) after operation, obviously relieved in 2 cases (8%), invalid in 1 case (4%). Varied facial nerve paralysis was observed in 25 patients, but no hearing disturbance and other serious complication occurred. Follow-up for 2 to approximately 8 years showed there were recurrences in 2 cases (8%) and the facial nerve paralysis of 25 cases recovered in 1 to approximately 6 months after operation.@*CONCLUSION@#The facial nerve root combing scraping is an effective and safe microsurgical procedure which has wide-ranged indication and less complication. It is very important to select suitable treatment for the patient individually during the operation to improve the efficacy and lower the risk.

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.