Syndrome Ear Research Articles

Advances in the study of fluctuating sensorineural hearing loss

Fluctuating sensorineural hearing loss（FSNHL） is a special type of sensorineural hearing loss, which can be manifested in many clinical diseases. In this paper, some clinical diseases associated with FSNHL are summarized, such as Meniere's disease, large vestibular aqueduct syndrome, acute low frequency sensorineural hearing loss, delayed endolymphatic hydrops, autoimmune inner ear disease and syndromes leading to FSNHL. The pathogenesis, diagnosis and treatment of FSNHL were summarized in order to improve clinicians' understanding of FSNHL, reduce the probability of misdiagnosis of related diseases and improve the prognosis of patients.

Endolymphatic Hydrops in Fluctuating Hearing Loss and Recurrent Vertigo.

Background: Endolymphatic hydrops (EH) is the histopathological hallmark of Ménière's disease (MD) and has been found by in vivo magnetic resonance imaging (MRI) in patients with several inner ear syndromes without definite MD criteria. The incidence and relevance of this finding is under debate.Purpose: The purpose of the study is to evaluate the prevalence and characteristics of EH and audiovestibular test results in groups of patients with fluctuating audiovestibular symptoms not fulfilling the actual criteria for definite MD and compare them with a similar group of patients with definite MD and a group of patients with recent idiopathic sudden neurosensory hearing loss (ISSNHL).Material and Methods: 170 patients were included, 83 with definite MD, 38 with fluctuating sensorineural hearing loss, 34 with recurrent vertigo, and 15 with ISSNHL. The clinical variables, audiovestibular tests, and EH were evaluated and compared. Logistic proportional hazard models were used to obtain the odds ratio for hydrops development, including a multivariable adjusted model for potential confounders.Results: No statistical differences between groups were found regarding disease duration, episodes, Tumarkin spells, migraine, vascular risk factors, or vestibular tests; only hearing loss showed differences. Regarding EH, we found significant differences between groups, with odds ratio (OR) for EH presence in definite MD group vs. all other patients of 11.43 (4.5–29.02; p < 0.001). If the ISSNHL group was used as reference, OR was 55.2 (11.9–253.9; p < 0.001) for the definite MD group, 9.9 (2.1–38.9; p = 0.003) for the recurrent vertigo group, and 5.1 (1.2–21.7; p = 0.03) for the group with fluctuating sensorineural hearing loss.Conclusion: The percentage of patients with EH varies between groups. It is minimal in the ISSNHL group and increases in groups with increasing fluctuating audiovestibular symptoms, with a rate of severe EH similar to the known rate of progression to definite MD in those groups, suggesting that presence of EH by MRI could be related to the risk of progression to definite MD. Thus, EH imaging in these patients is recommended.

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.

Correlation between eye and ear symptoms and lack of teeth, bruxism and other parafunctions in a population of 1006 patients in 2003-2008

IntroductionParafunctions (harmful habits) play a crucial role in the formation of temporo-mandibular joint (TMJ) dysfunction syndrome with disc displacement. Disorder symptoms in temporo-mandibular joints manifest themselves in the eye and ear but are usually not associated with the dysfunction of temporo-mandibular joints and that might lead to errors in diagnosis. The aim of the study was to examine the influence of missing teeth and parafunctions on the occurrence of ear and eye symptoms in patients treated in the Department of Prosthodontics of the Medical University of Lublin.Material and methodsThe patient group consisted of 753 women and 253 men aged 10 to 82 years who had been treated in the Department of Prosthodontics, Medical University of Lublin in the years 2003-2008 due to various symptoms associated with temporo-mandibular joint dysfunction.ResultsEye (24.84%, n = 785) and ear (33.38%, n = 785) syndromes occur on average more often in patients with parafunctions than without them (15.98%, n = 219 and 23.29%, n = 219). However, only parafunctions involving tooth contact should be taken into consideration when diagnosing eye and ear syndromes. The data presented here show that the number of missing teeth does not have a significant influence on the frequency of occurrence of parafunctions. Parafunctions have become a very important factor in the diagnosis of diseases and pathological symptoms of eye and ear as the rate at which they occur is growing.ConclusionsThe kind of parafunction is very important. Only those involving tooth contact should be taken into consideration when diagnosing eye and ear syndromes.

Análise comparativa das emissões otoacústicas com a timpanometria em lactentes de 0 a 6 meses

OBJETIVO: comparar os achados das emissões otoacústicas evocadas por estímulos transientes (EOAT) com a timpanometria usando tom sonda de 226 e 1000Hz em lactentes. MÉTODO: o estudo foi realizado no Serviço de Otorrinolaringologia do Hospital Santa Juliana de Maceió - Alagoas. Selecionaram-se lactentes de ambos os gêneros, com faixa etária de recém nascido a seis meses. Foram excluídos aqueles com fissura lábio palatinos, malformação de orelha externa e/ou média, síndromes e história familiar de perda auditiva. Foram realizados os seguintes procedimentos: anamnese para identificar as queixas auditivas e selecionar a amostra de acordo com os critérios de inclusão e exclusão; avaliação otorrinolaringológica por meio de otoscopia e avaliação auditiva que se constituiu de emissões otoacústicas evocadas por estímulo transiente (EOAET) e timpanometria com tom teste da sonda de 226 e 1000Hz. Para analisar as variáveis qualitativas, foi utilizado o teste de Igualdade de Duas Proporções, além do teste Qui-Quadrado para Independência e o intervalo de confiança para a Média, utilizados para a análise das variáveis quantitativas dos resultados. RESULTADOS: comparando-se os resultados das EOAT com os resultados da timpanometria obtida com os tons testes de 226 Hz e 1000Hz , observou-se uma associação da EOAT com a sonda de 1000Hz em ambas as orelhas, ou seja, houve ausência das EOAT nos lactentes que apresentaram timpanogramas alterados e presença quando os timpanogramas estavam normais. CONCLUSÃO: a timpanometria com sonda de 1000 Hz teve maior correlação com as EOAT tanto para identificação de respostas em orelhas normais como para as alterações de orelha média.

Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies. Mutations in EYA1 are known to cause BOR. More recently, mutations in SIX1, which interacts with EYA1, were identified as an additional cause of BOR. A second member of the SIX family of proteins, unc-39 (SIX5), has also been reported to directly interact with eya-1 in Caenorhabditis elegans. We hypothesized that this interaction would be conserved in humans and that interactors of EYA1 represent good candidate genes for BOR. We therefore screened a cohort of 95 patients with BOR for mutations in SIX5. Four different heterozygous missense mutations were identified in five individuals. Functional analyses of these mutations demonstrated that two mutations affect EYA1-SIX5 binding and the ability of SIX5 or the EYA1-SIX5 complex to activate gene transcription. We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR.

Ear and kidney syndromes: Molecular versus clinical approach

The association between ear and kidney anomalies is not usually due to an insult to the embryo. In recent years, many essential development control genes that coordinate the assembly and function of kidney and ear have been discovered through the generation of animal mutants and have increased our understanding of the mechanisms of human oto-renal diseases. Here, we describe ear and kidney clinical syndromes and their molecular expression.

Residual Mesenchyme in Temporal Bones of Children

The role of mesenchyme in the temporal bone is still poorly understood. A microscopic study of residual mesenchyme was undertaken in temporal bones of children from birth to 5 years of age. Residual mesenchyme was found to be located in the mastoid antrum and epitympanum more often than in the mesotympanum. The amount of mesenchymal tissue remaining in the temporal bones decreased with increasing age. Persistence of mesenchyme in the temporal bone was related to congenital morphologic ear anomalies and syndromes. There was also an association evident with pulmonary disease, but not with congenital heart defects. Persistent mesenchyme was also found to be significantly associated with chronic middle ear inflammation, and in cases of unilateral otitis media the ear with otitis media had more residual mesenchyme than the non-otitis media ear.