Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant.

Objectives: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant. Data was collected through questionnaire-based detailed interviews. Syndromic Hearing Loss, Non-Syndromic Hearing Loss, and Acquired Hearing Loss were identified among the subjects. Data was analysed using SPSS 22. RESULTS: Of the 250 cases, 147(58.8%) were boys, 146(58.4%) were aged 0-5 years, 219(87.6%) had prelingual onset of disease, and 202(80.8%) had a non-progressive disease course. In 203(81.2%) cases, normal developmental milestones were seen. Parental consanguinity was observed in 219(87.6%) cases. However, 63(25.2%) patients had a first-degree relative who had a history of deafness. In 170(68%) cases, hearing loss was hereditary, whereas in 80(32%) it was acquired. Meningitis was the most commonly identified risk factor 55(68.75%). Acquired risk factors and family history had significant association with hearing loss (p<0.05). Speech perception significantly improved in all 219(100%) patients with prelingual hearing loss who underwent cochlear implantation. CONCLUSIONS: Majority of the cases were found to be male, had a prelingual disease onset and a non-progressive disease course. Family history was a significant factor, while meningitis was the most common acquired cause of hearing loss.

Brazilian Society of Otology task force - Vestibular Schwannoma ‒ evaluation and treatment.

OBJECTIVE: To review the literature on the diagnosis and treatment of vestibular schwannoma. METHODS: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. RESULTS: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. CONCLUSIONS: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first described in 2011, up to 500 patients have been reported. Here, we describe a cohort of 31 Italian patients (26 families) with molecular diagnosis of GATA2 deficiency. Patients were recruited contacting all the Italian Association of Pediatric Hematology and Oncology (AIEOP) centers, the Hematology Department in their institution and Italian societies involved in the field of vascular anomalies, otorhinolaryngology, dermatology, infectious and respiratory diseases. Median age at the time of first manifestation, molecular diagnosis and last follow-up visit was 12.5 (age-range, 2-52 years), 18 (age-range, 7-64 years) and 22 years (age-range, 3-64), respectively. Infections (39%), hematological malignancies (23%) and undefined cytopenia (16%) were the most frequent symptoms at the onset of the disease. The majority of patients (55%) underwent hematopoietic stem cell transplantation. During the follow-up rarer manifestations emerged. The clinical penetrance was highly variable, with the coexistence of severely affected pediatric patients and asymptomatic adults in the same pedigree. Two individuals remained asymptomatic at the last follow-up visit. Our study highlights new (pilonidal cyst/sacrococcygeal fistula, cholangiocarcinoma and gastric adenocarcinoma) phenotypes and show that lymphedema may be associated with null/regulatory mutations. Countrywide studies providing long prospective follow-up are essential to unveil the exact burden of rarer manifestations and the natural history in GATA2 deficiency.

Cochlear implantation in advanced otosclerosis: utility of pre-operative radiological assessment in predicting intra-operative difficulty and final electrode position.

OBJECTIVE: This study aimed to determine if pre-operative radiological scoring can reliably predict intra-operative difficulty and final cochlear electrode position in patients with advanced otosclerosis. METHOD: A retrospective cohort study of advanced otosclerosis patients who underwent cochlear implantation (n = 48, 52 ears) was compared with a larger cohort of post-lingually deaf adult patients (n = 1414) with bilateral hearing loss and normal cochlear anatomy. Pre-operative imaging for advanced otosclerosis patients and final electrode position were scored and correlated with intra-operative difficulty and speech outcomes. RESULTS: Advanced otosclerosis patients benefit significantly from cochlear implantation. Mean duration of deafness was longer in the advanced otosclerosis group (19.5 vs 14.3 years; p < 0.05). CONCLUSION: Anatomical changes in advanced otosclerosis can result in increased difficulty of surgery. Evidence of pre-operative cochlear luminal changes was associated with intra-operative difficult insertion and final non-scala tympani position. Nearly all electrodes implanted in the advanced otosclerosis cohort were peri-modiolar. No reports of facial nerve stimulation were observed.

[Effect of cochlear implantation on speech recognition under different listening modes in children].

Objective:To investigate speech recognition among children with a unilateral cochlear implant（CI）, bilateral CI, and bimodal hearing and identify the benefits of binaural hearing. Methods:A total of 67 children with severe sensorineural hearing loss who received bilateral CI, bimodal hearing, and unilateral CI from 2012 to 2021 were recruited, including 23 cases with unilateral CI, 25 cases of bimodal hearing, and 19 cases of bilateral CI. The aided hearing threshold at 250-4000 Hz and speech recognition performance of two-syllable words and short sentences in quiet and noisy environments were tested, respectively. Results:There was no significant difference in the hearing threshold results of the bilateral CI group, the bimodal hearing group, and the unilateral CI group by ANOVA（P>0.05）. According to the paired t-test within the group, the speech recognition of disyllabic words and short sentences in quiet and noisy environments were significantly different among the three groups（P<0.05）. There was no significant difference in the speech recognition rates of disyllabic words and short sentences among the three groups in a quiet environment（P>0.05）, but there was a statistically significant difference in a noisy environment（P<0.05）. Additional multiple linear regression analysis showed no significant difference in the recognition rates of disyllabic words and short sentences between the bimodal group and the bilateral CI group in quiet and noisy environments（ß=-0.567, P>0.05; ß=-0.643, P>0.05）. There was a statistically significant difference in speech recognition of disyllabic words and short sentences between the bimodal group and the unilateral CI group in the noise environment（ß=-0.124, P<0.05）, but the difference was not statistically significant in a quiet environment（ß=-0.671, P>0.05）; there was a statistically significant difference in the recognition rate of disyllabic words and short sentences between the bilateral CI group and the unilateral CI group in the noise environment（ß=-0.226, P<0.05）, but the difference was not statistically significant in a quiet environment（ß=-0.341, P>0.05）. Conclusion:Clinicians and guardians are encouraged to provide the most comprehensive audiological evaluation for children with hearing loss. Bilateral CI and bimodal hearing have demonstrated enormous advantages over unilateral CI regarding speech recognition in noise. Bimodal hearing deems a strong recommendation if the contralateral ear has sufficient speech recognition capability. Bilateral CI should be warranted if hearing aids deemed to be ineffective.

Brazilian Society of Otology task force - Vestibular Schwannoma - evaluation and treatment

Abstract Objective: To review the literature on the diagnosis and treatment of vestibular schwannoma. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. Conclusions: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Satisfaction and quality of life in cochlear implant users with long sensory deprivation / Satisfação e qualidade de vida em usuários de implante coclear com longo tempo de privação sensorial

ABSTRACT Purpose The aim of the study was to verify the level of satisfaction of CI users with long periods of hearing deprivation, highlighting the positive and negative aspects of the use of the device and their quality of life. Methods This is a analytical research, of the type observational cross-sectional study. The study was performed with 24 patients from a private Institute of Otorhinolaryngology. Three surveys were applied: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory - Cochlear Implant (IOI - CI) to assess cochlear implant satisfaction and WHOQOL- bref to assess the quality of life. The results in the pre and post lingual groups were compared. Results The highest degree of satisfaction was reported with regard to personal image, positive effects, and how the users feel about their CI. The lowest degree of satisfaction was reported regarding the cost-benefit of the CI and the competitive noise. In the WHOQOL-bref assessment, the highest scores were found in physical, psychological and social relations domains. When comparing the results of the surveys, the pre and post-lingual groups showed no difference in relation to the achieved scores. Conclusion The participants had a high level of satisfaction with the use of cochlear implants. The longer the sensory deprivation time, the greater the degree of satisfaction with the device. The use of the CI electronic device reflects on the individual's quality of life.

RESUMO Objetivo Verificar o nível de satisfação de usuários de IC com longos períodos de privação auditiva, destacando os aspectos positivos e negativos do uso do dispositivo e avaliar a qualidade de vida desses indivíduos. Método Trata-se de uma pesquisa analítica, do tipo estudo observacional transversal. O estudo foi realizado com 24 pacientes de um instituto privado de Otorrinolaringologia. Foram aplicados três questionários: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory- Implante Coclear (IOI - IC) para avaliar a satisfação com o implante coclear e WHOQOL-bref para avaliar a qualidade de vida. Os resultados nos grupos pré e pós-lingual foram comparados. Resultados O maior grau de satisfação foi relatado em relação à imagem pessoal, efeitos positivos e como os usuários se sentem em relação ao seu IC. O menor grau de satisfação ocorreu em relação ao custo-benefício do IC e ao ruído competitivo. Na avaliação do WHOQOL-bref, os maiores escores foram encontrados nos domínios físico, psicológico e relações sociais. Os grupos pré e pós-lingual não apresentaram diferença em relação aos escores alcançados. Conclusão Os participantes apresentaram alto nível de satisfação com o uso do implante coclear. Quanto maior o tempo de privação sensorial maior o grau de satisfação com o dispositivo. O uso do dispositivo eletrônico de IC reflete melhora na qualidade de vida do indivíduo.

[Cochlear nerve canal stenosis: a review of recent research].

Some patients with severe-profound sensorineural hearing loss （SNHL） with normal cochlear anatomical structure received cochlear implantation （CI） and the hearing and speech rehabilitation effect was not ideal. Through retrospective analysis, it was found that some of these patients had cochlear never canal （CNC） stenosis, or atresia in severe cases.This article reviews the development of the CNC, the diagnostic criteria of CNC stenosis and the results of hearing and speech rehabilitation in these patients after CI.

Granulomatosis with polyangiitis in a patient with polydipsia, facial nerve paralysis, and severe otologic complaints: a case report and review of the literature.

BACKGROUND: Granulomatosis with polyangiitis, formerly known as Wegener granulomatosis, is a necrotizing vasculitis with granulomatous inflammation that belongs to the class of antineutrophil cytoplasmic antibodies-positive diseases. It occurs in a localized and a systemic form and may present with a variety of symptoms. Involvement of the upper respiratory tract is very common, while neurologic, endocrinological, and nephrological dysfunction may occur. CASE PRESENTATION: We describe the case of a 29-year-old Central European male patient presenting with severe bilateral sensorineural hearing loss, otorrhea, and one-sided facial nerve paralysis. The patient was unsuccessfully treated with i.v. antibiotics at another hospital in Berlin, and tympanic tubes were inserted. After presentation to our emergency room, he was hospitalized and further diagnostics started. Increased fluid intake and 12 kg weight gain over the last months were reported. The patient was diagnosed with granulomatosis with polyangiitis and diabetes insipidus. The patient's condition improved after treatment with rituximab. DISCUSSION: A comprehensive PubMed search of all articles with granulomatosis with polyangiitis and diabetes insipidus was conducted to assess which combination of symptoms occurs simultaneously and whether other parts of the pituitary are commonly involved. The 39 selected articles, describing 61 patients, showed that ear-nose-throat involvement occurred most commonly, in 71% of cases. Of patients, 59% had involvement of the anterior pituitary gland, while true panhypopituitarism occurred in 13% of cases. Only one case report featured the same set of symptoms as described herein. CONCLUSION: Granulomatosis with polyangiitis is a highly variable disease, commonly involving the upper airways, but that may present with symptoms solely related to the pituitary gland. Clinicians should have a low threshold to investigate for granulomatosis with polyangiitis in patients with therapy-resistant otorrhea. Patients may present with a complex set of symptoms, and integrating different specialists when additional symptoms occur may lead to faster diagnosis.

Probability of clinically significant hearing recovery following salvage intratympanic steroids for sudden sensorineural hearing loss in the 'real world'.

OBJECTIVE: This study aimed to determine the probability of hearing recovery in patients with idiopathic sudden sensorineural hearing loss following salvage intratympanic steroids. METHOD: A retrospective review of all patients receiving salvage intratympanic steroid injections for idiopathic sudden sensorineural hearing loss was performed (January 2014 to December 2019). Twenty-two patients were identified, of whom 15 met inclusion criteria. Pre- and post-treatment audiograms were compared with the unaffected ear. Hearing recovery was categorised based on American Academy of Otolaryngology Head and Neck Surgery criteria. RESULTS: Only 1 patient out of 15 (6.7 per cent) made a partial recovery, and the remainder were non-responders. The median duration of time between symptom onset and first salvage intratympanic steroid treatment was 52 days (range, 14-81 days). No adverse reactions were observed. CONCLUSION: 'Real world' patients with idiopathic sudden sensorineural hearing loss present differently to those in the literature. Sudden sensorineural hearing loss should be diagnosed with care and intratympanic steroid injections initiated early if considered appropriate. Patients should make an informed decision on treatment based on prognostic factors and local success rates.

[Effects of cytomegalovirus infection on infants' hearing and speech development].

Objective:To investigate the effects of cytomegalovirus（CMV） infection on infants' hearing and speech development. Methods:A total of 192 infants with cytomegalovirus infection were selected as research objects（CMV group）. Among 320 normal infants who received physical examinations in the Second Affiliated Hospital of Zhengzhou University during the same period were selected as the control group. Using transiently evoked otoacoustic emission to conduct initial hearing screening. Jointing automatic auditory brainstem response screening method to follow up for infants infected with cytomegalovirus. Those who failed to pass the screening were diagnosed with auditory brainstem response and acoustic immittance examination. The two groups of infants were evaluated for follow-up at the age of 12, 24, 36 months using the Gesell Development scale. Results:Hearing screening（initial hearing screening and 42 d hearing re-screening）: CMV group retrospectively failed rates 28.65%（55/192）, 31.77%（61/192）, normal control group retrospectively failed rates 9.06%（29/320）, 4.06%（13/320）, the results of the two groups' hearing screening showed statistically significant differences（P<0.05）. 48 cases of diagnostic ABR were abnormal in CMV group in 3 month's hearing diagnosis, including 11 cases of secretory otitis media, 37 cases of sensorineural hearing loss. Follow-up for 36 months, 192 infants with CMV infection were confirmed congenital SNHL 37 cases（19.27%）, 21 cases of delayed SNHL（10.94%）, a total of diagnosis with SNHL 58 cases（30.21%）. The development quotient（DQ） of CMV group were respectively 92.05±4.68, 86.53±4.46, 85.92±4.82 in 12, 24, 36 months, and the DQ value of the normal control group were respectively 93.10±4.56, 94.35±4.52, 95.03±4.16. At the age of 24, 36 months, the DQ value of two groups' differences were statistically significant（P<0.05）. Conclusion:CMV infection is hearing loss' risk factors. It had the characteristics of volatility, delay and progressive decline. Follow-up should be strengthened for hearing and speech development.

[Advances in stem cell inner ear transplantation].

Sensorineural hearing loss has long been one of the common diseases in the field of otology. With the increasing research on stem cell therapy, the experiments and applications of stem cell inner ear transplantation are developing rapidly, with some remarkable results and some questions to be considered. The source of stem cells and the transplantation route are crucial, and the immune rejection in the post-transplantation period should not be ignored. This paper will review the issues related to stem cell source, transplantation route and immune rejection in inner ear transplantation, hoping to provide new ideas for research in the field of stem cell inner ear transplantation.

[Tinnitus and depression after cochlear implantation in adult sensorineural deafness].

Objective:The aim of this study is to investigate the changes and correlation of tinnitus and depression in adult patients with severe deafness after cochlear implantation. Methods:A total of 166 adult patients who underwent cochlear implantation（CI） were retrospectively selected as the research objects. All patients were investigated by Chinese Version of the Tinnitus Handicap Inventory（THI-C） and Chinese Version of the Beck Depression Inventory-Ⅱ（BDI-Ⅱ-C） before and after operation, and the improvement of tinnitus after operation was observed THI-C and BDI-Ⅱ-C scores before and after operation and the correlation between them. Results:Re-examination at 6 months after CI showed that the evaluation grade of tinnitus disability before and after the operation decreased significantly（Z=-9.478, P<0.001）, and the THI-C score （t=69.128, P<0.001）, and BDI-Ⅱ-C score （t=58.531，P<0.01）were significantly reduced. Spearman correlation analysis showed that there was a significant positive correlation between THI-C and BDI-Ⅱ-C scores before and after operation, aswell as the improvement of THI-C score and BDI-Ⅱ-C score（rpreoperative=0.763, rpostoperative=0.741, rdifference=0.741, all P<0.001）. Conclusion:Cochlear implantation can significantly improve tinnitus and depression in adult patients with sensorineural hearing loss. With the improvement of tinnitus, the depressive state of patients can be alleviated accordingly.

[The value of quantitative measurement of key structures of inner ear by HRCT in hearing evaluation of patients with congenital severe sensorineural deafness].

Objective:Study on the value of quantitative measurement of key structures of inner ear by high resolution computer tomography（HRCT） in hearing evaluation of patients with congenital severe sensorineural hearing loss（SNHL）. Methods:A total of 90 children with extremely severe SNHL diagnosed and treated in Beilun District People's Hospital from January 2018 to February 2021 were collected as the experimental group. In the same period, 90 children（180 ears） with normal inner ear structure and hearing were scanned because of head trauma and suspected temporal bone fracture. Logistic univariate and multivariate regression analysis were used to analyze the factors affecting the occurrence of extremely severe SNHL. Based on the results of multivariate analysis, a Nomogram prediction model was established. The model before and after internal correction was evaluated by the receiver working characteristic curve. Results:Inner ear malformation, SSCC bone island width, LSCC bone island width and cochlear height were independent risk factors for extremely severe SNHL. The results of Nomogram predictive model showed that cochlear height 34 points, LSCC bone island width 19 points, SSCC bone island width 22 points, inner ear malformation 37 points, the total score（112 points） corresponding to the incidence of extremely severe SNHL（0.3%）. The actual C-index value of Nomogram prediction model is 0.858, the C-index of internal verification is 0.851, and the C-index of external verification is 0.847. The coincidence of the model is good. It is suggested that the model can effectively predict the risk factors of congenital extremely severe SNHL and has high prediction accuracy. Conclusion:The standardized measurement of SSCC bone island width, LSCC bone island width and cochlear height by HRCT is of great value in the diagnosis of microinner ear malformation in children with extremely severe SNHL.

Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications.

In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear incomplete partition type III anomaly (IP-III), surgical planning, and cochlear implant selection to avoid possible complications. The child underwent cochlear implantation, which resulted in gushing and misplacement of the electrodes into the internal auditory canal (IAC) as postoperative complications. Postoperative imaging was used to determine the position of the implant and to assess the complications. The child's postoperative X-ray revealed misplacement of the cochlear implant, the extent of which was further assessed by a HRCT scan for preplanning the revision surgery and electrode selection. Following the revision surgery, a further HRCT scan confirmed proper implantation and ruled out any further complications.

Totally implantable active middle-ear implants: a large, single-surgeon cohort.

OBJECTIVES: This study aimed to evaluate hearing outcomes and device safety in a large, single-surgeon experience with the totally implantable active middle-ear implants. METHODS: This was a retrospective case series review of 116 patients with moderate-to-severe sensorineural hearing loss undergoing implantation of active middle-ear implants. RESULTS: Mean baseline unaided pure tone average improved from 57.6 dB before surgery to 34.1 dB post-operatively, signifying a mean gain in pure tone average of 23.5 dB (p = 0.0002). Phonetically balanced maximum word recognition score improved slightly from 70.5 per cent to 75.8 per cent (p = 0.416), and word recognition score at a hearing level of 50 dB values increased substantially from 14.4 per cent to 70.4 per cent (p < 0.0001). Both revision and explant rates were low and dropped with increasing surgeon experience over time. CONCLUSION: This study showed excellent post-operative hearing results with active middle-ear implants with regard to pure tone average and word recognition score at a hearing level of 50 db. Complication rates in this case series were significantly lower with increasing experience of the surgeon. Active middle-ear implants should be considered in appropriate patients with moderate-to-severe sensorineural hearing loss who have struggled with conventional amplification and are good surgical candidates.

[Surgical strategy of minimally invasive cochlear implantation].

Cochlear implantation is currently the most effective treatment for patients with severe-to-profound sensorineural hearing loss. How to achieve minimally invasive treatment, preserve the residual hearing, and further improve curative effect and reduce surgical complications is the goal of cochlear implantation practice. This article introduces the minimally invasive cochlear implantation technique in terms of the idea of minimally invasive operation, the advantages of electric acoustic stimulation, the key points of electrode implantation technique, the design of surgical incision, and the precise processing of perioperative period. This technique not only has the merits of less operative damage and better hearing and speech rehabilitation after surgery, but also reserves favorable structures and function for the future application of gene therapy and hair cell regeneration technique. Therefore, it is strongly recommended for further promotion in clinical practice.

[Selection of cochlear electrode array implantation lengths and outcomes in patients with bilateral sensorineural hearing loss].

Objective: To perform a comprehensive comparison on the therapeutic effects of unilateral 31.5 mm and 28 mm cochlear implantation (CI) on the post-operative hearing rehabilitation outcomes, including hearing threshold, speech recognition and quality of life, in patients with bilateral sensorineural hearing loss. Methods: A total of 26 patients [12 males, 14 females, aged 19-71 (43±16) years] diagnosed with bilateral severe-to-profound sensorineural hearing loss at Peking Union Medical College Hospital from April 2018 to August 2019 were included. Patients underwent temporal bone high resolution CT (HRCT), based on which the electrode lengths were calculated using OTOPLAN. Eleven and fifteen ears were implanted with MED-EL Flex 31.5 mm and Flex 28 mm electrode arrays respectively, via round window approach under minimally invasive surgery. The patients were followed up regularly for up to 2 years. At each follow-up, aided hearing threshold, speech recognition in quiet and noise, and Nijmegen Cochlear Implantation Questionnaire (NICQ) scores were evaluated and compared. Results: Post-operative hearing thresholds were (46.5±3.4) dB and (48.5±2.2) dB in patients implanted with MED-EL Flex 31.5 mm and Flex 28 mm electrode arrays, respectively, with no statistically significant difference (P=0.074). Both hearing thresholds and speech recognition demonstrated significant post-operative improvement compared with pre-operative results. Hearing thresholds after 1-year post-operation were (32.1±1.2) dB and (32.5±0.9) dB, respectively (P=0.355). Patients implanted with Flex 31.5 mm electrode scored significantly higher at speech recognition under 65 dB sound pressure level (SPL) at most of the follow-ups (All P<0.05). Speech recognition in noise (S/N=10 dB) was also improved in patients implanted with Flex 31.5 mm electrode. All sub-divisions of the NICQ demonstrated significant post-operative improvement, and no significant difference between the 2 groups was observed apart from the"self-confidence"sub-division. Conclusions: Selection of MED-EL Flex 31.5 mm and 28 mm implantation based on pre-operative OTOPLAN evaluation can both bring significant improvements to patients' hearing and quality of life. Flex 31.5 mm electrode can potentially provide better speech recognition within a certain period after surgery.

[Identification of a novel mutation of SOX10 gene and analysis of the phenotype].

Objective: To explore the clinical features and pathogenic mechanisms of a special syndrome with congenital sensorineural hearing loss, albinism, heterochromia iridis, nystagmus and myelin dysplasia. Methods: Detailed medical history, systematic audiology tests, ophthalmic and neurological examinations were carried out to analyze the clinical features of the child, and further molecular genetic tests including chromosome karyotype analysis, and deafness gene screening were conducted. Results: A new de novo heterozygous mutation (c.336G>T/p.Met112Ile) was detected in the child, while both his parents were demonstrated to be wild-type and symptom free. The analysis of clinical features indicated the diagnosis of PCW syndrome. Conclusion: This study identified a new mutation of SOX10 gene, which enriched the mutation spectrum of this gene. And the analysis of clinical characteristics of this patient also expanded the phenotype of this gene. This study provided a reference for clinical diagnosis and genetic diagnosis of PCW syndrome.