Audiology and Neurotology最新文献_第6页

Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers 耳蜗基因突变携带者的听前庭表型和高级磁共振成像特征

Audiology and Neurotology Pub Date : 2019-08-07 DOI: 10.1159/000501292

G. Conte, F. Lo Russo, L. Caschera, D. Zanetti, P. Castorina, C. Sina, F. Triulzi, F. Di Berardino

{"title":"Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers","authors":"G. Conte, F. Lo Russo, L. Caschera, D. Zanetti, P. Castorina, C. Sina, F. Triulzi, F. Di Berardino","doi":"10.1159/000501292","DOIUrl":"https://doi.org/10.1159/000501292","url":null,"abstract":"Objective: To describe clinical and imaging findings in a group of patients affected by nonsyndromic deafness A9 (DFNA9), using advanced magnetic resonance imaging (MRI) with 3-dimensional (3D) fluid-attenuated inversion recovery (FLAIR) sequence. Method: A retrospective case review was conducted in a tertiary referral center in Italy. Four sequential adult DFNA9-affected patients, who had undergone MRI at our Department between January 2017 and June 2018, were enrolled (male = 2, female = 2; median age: 65.6 years; 8 diseased ears analyzed). Three patients were relatives; the fourth was unrelated. The main outcome measures – age, sex, records of audiological and vestibular testing, genetic assessment, MRI findings – were analyzed. Results: All subjects suffered from bilateral progressive sensorineural hearing loss, more severely at the high frequencies and with a typical clinical pattern of bilateral chronic degenerative cochleovestibular deficit. Aural fullness was reported at the onset of the disease. All patients revealed a pathogenic heterozygous mutation in the Limulus factor C, Coch-5b2 and Lgl1 domain of cochlin. None of the patients showed a significant vestibular and cochlear endolymphatic hydrops at MRI, while high bilateral contrast enhancement on 4-h delayed postcontrast 3D FLAIR sequence was observed in all ears. Conclusions: Increased perilymph enhancement on 4-h delayed postcontrast 3D FLAIR sequence is the common imaging feature of DFNA9 ears, suggesting that blood-labyrinthine barrier breakdown may play the main role in the pathophysiology of this disease. Significant hydrops has been excluded by MRI. This finding might be clinically useful in differentiating DFNA9 disease from other pathologies with similar clinical findings like Ménière’s disease.","PeriodicalId":8624,"journal":{"name":"Audiology and Neurotology","volume":"24 1","pages":"166 - 173"},"PeriodicalIF":0.0,"publicationDate":"2019-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78218245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Front & Back Matter 正面和背面

Audiology and Neurotology Pub Date : 2019-08-01 DOI: 10.1159/000502554

J. Harris

引用次数: 0

Impairment of Vestibular Function and Balance Control in Patients with Type 2 Diabetes 2型糖尿病患者前庭功能损害及平衡控制

Audiology and Neurotology Pub Date : 2019-07-19 DOI: 10.1159/000501291

Jin Li, Jana Jiang, Yi Zhang, Bo Liu, Luo Zhang

{"title":"Impairment of Vestibular Function and Balance Control in Patients with Type 2 Diabetes","authors":"Jin Li, Jana Jiang, Yi Zhang, Bo Liu, Luo Zhang","doi":"10.1159/000501291","DOIUrl":"https://doi.org/10.1159/000501291","url":null,"abstract":"Background: Recent evidence suggests that falls are a major complication of diabetes in elderly patients, leading to disability and preventable death. However, the potential risk factors leading to falls in patients with type 2 diabetes are not fully understood. This study was designed to explore the characteristics of vestibular dysfunction and balance control in patients with type 2 diabetes and to analyse the risk factors associated with falls. Methods: The study recruited 51 patients with type 2 diabetes and 43 controls who underwent vestibular function tests and balance control capability tests between January 2013 and December 2015. Vestibular function and balance control capability assessment was based on slow-phase velocity, canal paresis, Sensory Organisation Test (SOT) score, Limits of Stability Test (LOS) score, and Motor Control Test (MCT) score. Results: In all, 56.7% of the diabetic patients had vestibular dysfunction, compared with 27.9% of the controls (p = 0.005). Vestibular dysfunction was dependent on the duration of the disease and serum HbA1c levels. There were no significant differences between the two groups with respect to the balance test results for SOT score, somatosensory subtest score, vestibular subtest score, or LOS score. However, the visual system and MCT scores were significantly lower in the diabetic patients than in the controls (p = 0.032 and p = 0.018, respectively). Conclusions: Patients with type 2 diabetes have a higher incidence of vestibular dysfunction. Vestibular dysfunction, visual system impairment, and a decline in motion control may be the risk factors that can lead to falls, and thus need to be managed accordingly in diabetic patients.","PeriodicalId":8624,"journal":{"name":"Audiology and Neurotology","volume":"14 1","pages":"154 - 160"},"PeriodicalIF":0.0,"publicationDate":"2019-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74505861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Fluctuating Sensorineural Hearing Loss 波动感音神经性听力损失

Audiology and Neurotology Pub Date : 2019-07-17 DOI: 10.1159/000500658

Hui Liu, Kunpeng Zhou, Xuemei Zhang, K. Peng

引用次数: 9

Cochlear Nerve Hypoplasia: Audiological Characteristics in Children and Adults 耳蜗神经发育不全:儿童和成人的听力学特征

Audiology and Neurotology Pub Date : 2019-07-15 DOI: 10.1159/000500938

B. Cinar, E. Tahir, Merve Ozbal Batuk, M. Yaralı, G. Sennaroğlu, L. Sennaroğlu

{"title":"Cochlear Nerve Hypoplasia: Audiological Characteristics in Children and Adults","authors":"B. Cinar, E. Tahir, Merve Ozbal Batuk, M. Yaralı, G. Sennaroğlu, L. Sennaroğlu","doi":"10.1159/000500938","DOIUrl":"https://doi.org/10.1159/000500938","url":null,"abstract":"Background: Cochlear nerve deficiency is a general term used to describe both cochlear nerve hypoplasia (CNH) and cochlear nerve aplasia. Although these two conditions can have similar results on audiological evaluation, CNH yields more variation in audiological tests. Objectives: To describe the audiological characteristics of the CNH cases in our series in relation to radiological findings. Methods: We reviewed the medical charts, audiological findings, and radiological findings on cases with CNH. We included cases with CNH in one ear or both ears. Out of 90 subjects with CNH, we included a total of 40 individuals (21 women and 19 men; 49 ears) in the current study. We reviewed and analyzed the participants’ audiological test results according to the radiological findings. Results: Cases with CNH showed variations according to the cochlear structure. There were 13 normal cochleae, 4 with incomplete partition type I, and 32 with cochlear hypoplasia. The accompanying cochlear apertures also showed variation: 17 were normal, 28 stenotic, and 4 aplastic cochlear apertures. The subjects displayed hearing loss ranging from moderate to profound; furthermore, 4 subjects had no response to sound whatsoever. The degree of hearing loss was not statistically significantly different with regard to the presence or absence of cochlear malformation with CNH (p > 0.005). We observed both sensorineural hearing loss and mixed-type hearing loss among the CNH cases. Conclusions: CNH is the presence of a cochlear nerve that is smaller in diameter than the facial nerve. It can be accompanied with other associated inner ear malformations of different degrees of severity. We observed degrees of hearing loss ranging from moderate to profound.","PeriodicalId":8624,"journal":{"name":"Audiology and Neurotology","volume":"24 1","pages":"147 - 153"},"PeriodicalIF":0.0,"publicationDate":"2019-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82171137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Front & Back Matter 正面和背面

Audiology and Neurotology Pub Date : 2019-07-01 DOI: 10.1159/000502217

A. Arora, L. Cascarini, J. Jeannon

引用次数: 0

Front & Back Matter 正面和背面

Audiology and Neurotology Pub Date : 2019-05-01 DOI: 10.1159/000501054

J. Harris

引用次数: 0

Front & Back Matter 正面和背面

Audiology and Neurotology Pub Date : 2019-03-01 DOI: 10.1159/000499615

引用次数: 0

Contents Vol. 23, 2018 目录2018年第23期

Audiology and Neurotology Pub Date : 2019-03-01 DOI: 10.1159/000497736

D. Cotanche, R. Häusler, G. Housley, P. Jastreboff, M. Kenna, P. Lefebvre, L. Luxon, G. Manley, J. Melcher

{"title":"Contents Vol. 23, 2018","authors":"D. Cotanche, R. Häusler, G. Housley, P. Jastreboff, M. Kenna, P. Lefebvre, L. Luxon, G. Manley, J. Melcher","doi":"10.1159/000497736","DOIUrl":"https://doi.org/10.1159/000497736","url":null,"abstract":"Maurizio Barbara – University La Sapienza, Rome, Italy Olivier Bertrand – Centre Hospitalier Le Vinatier, Bron, France Thomas Brandt – Ludwig Maximilians University, Munich, Germany Barbara Canlon – Karolinska Institute, Stockholm, Sweden Douglas A. Cotanche – Harvard School of Public Health, Boston, USA Cor W.R.J. Cremers – University Medical Center St. Radboud, Nijmegen, The Netherlands Norbert Dillier – University Hospital, Zurich, Switzerland Robert Dobie – University of Texas Health Science Center, San Antonio, USA Manuel Don – House Ear Institute, Los Angeles, USA Jill B. Firszt – Washington University, St. Louis, USA Andrew Forge – University College London, London, United Kingdom Bernard Fraysse – Hôpital Purpan, Toulouse, France Rick Friedman – House Ear Institute, Los Angeles, USA Bruce J. Gantz – University of Iowa Hospitals and Clinics, Iowa City, USA Anthony W. Gummer – University of Tübingen, Tübingen, Germany James W. Hall, III. – University of Florida, Gainesville, USA Joseph W. Hall – University of North Carolina, Chapel Hill, USA Michael Halmagyi – Royal Prince Alfred Hospital, Camperdown, Australia The Science of Hearing and Balance","PeriodicalId":8624,"journal":{"name":"Audiology and Neurotology","volume":"14 1","pages":"I - VI"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88448202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. CABP2基因的一种新的致病变异在伊朗近亲家庭中导致严重的非综合征性听力损失。

Audiology and Neurotology Pub Date : 2019-01-01 Epub Date: 2019-10-29 DOI: 10.1159/000502251

Mahbobeh Koohiyan, Mohammad Reza Noori-Daloii, Morteza Hashemzadeh-Chaleshtori, Mansoor Salehi, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar

{"title":"A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.","authors":"Mahbobeh Koohiyan, Mohammad Reza Noori-Daloii, Morteza Hashemzadeh-Chaleshtori, Mansoor Salehi, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar","doi":"10.1159/000502251","DOIUrl":"10.1159/000502251","url":null,"abstract":"Background and objectives: Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. CABP2 mutations have been reported to cause moderate HL. Here, we report the whole exome sequencing (WES) of a proband presenting with prelingual, severe HL in an Iranian family.Methods: A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in the family with 2 affected members. After excluding mutations in the GJB2 gene and 7 other most common autosomal recessive nonsyndromic HL (ARNSHL) genes via Sanger sequencing and genetic linkage analysis in the family, WES was utilized to find the possible etiology of the disease.Results: WES results showed a novel rare variant (c.311G>A) in the CABP2gene.This missense variant in the exon 4 of the CABP2gene meets the criteria of being pathogenic according to the American College of Medical Genetics and Genomics (ACMG) interpretation guidelines.Conclusions: Up to now, 3 mutations have been reported for the CABP2gene to cause moderate ARNSHL in different populations. Our results show that CABP2variantsalso cause severe ARNSHL, adding CABP2to the growing list of genes that exhibit phenotypic heterogeneity. Expanding our understanding of the mutational spectrum of HL genes is an important step in providing the correct clinical molecular interpretation and diagnosis for patients.","PeriodicalId":8624,"journal":{"name":"Audiology and Neurotology","volume":"149 45 1","pages":"258-263"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89251572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0