Grades of hearing loss affect the presence of acoustically evoked short latency negative responses in children with large vestibular aqueduct syndrome.

OBJECTIVES: We aimed to investigate the relationship between grades of hearing loss and the presence of acoustically evoked short latency negative response (ASNR) in children with large vestibular aqueduct syndrome (LVAS), so as to enhance the reference value of ASNR for the diagnosis of LVAS in children. METHODS: Two hundred sixteen ears from 108 patients (aged 4-90 months) diagnosed with bilateral LVAS, with slight to profound hearing loss, were enrolled in the present study from January 2012 to December 2018. All of the cases were diagnosed with LVAS according to high-resolution computed tomography (HRCT) or magnetic resonance imaging (MRI) scans of the inner ears. The auditory brain stem response (ABR) tests were performed on these subjects with click stimulus (ck-ABR), and the ASNRs were detected based on the method recommended by previous studies. The degree of hearing loss for each ear was classified by the estimated pure-tone average (PTA) thresholds, which were calculated according to the ck-ABR thresholds. RESULTS: ASNRs were present in 40.7% (88/216) ears during ck-ABR tests. Both thresholds of ABR (Z = 2.977, p = 0.003) and estimated PTA (Z = 2.977, p = 0.003) were significantly higher in the ASNR absent group than in the ASNR present group. The frequency of not profound hearing impairment (≤80 dB HL) was much higher in the ASNR present group (44/88; 50%) than in the ASNR absent group (40/128; 31.3%) (χ2 = 7.714, p = 0.005). The results of the logistic regression model, adjusted by cases' age and gender, showed that compared with those ears with profound hearing impairment (>80 dB HL), the not profound impaired ears were associated with a 2.48-fold increased odds of recording ASNR presence in the ck-ABR test [odds ratio (OR) = 2.48, 95% confidence interval (CI): 1.38-4.46, p = 0.003]. CONCLUSIONS: Grades of hearing loss affect the presence of ASNR in children with LVAS, and manifesting as cases with not profound hearing impairment showed increased odds of recording ASNR in the ck-ABR test. Furthermore, more studies should be performed imperatively to determine the diagnosis value of ASNR in children with LVAS.

Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.

A non-synonymous mtDNA mutation, m.3395A > G, which changes tyrosine in position 30 to cysteine in p.MT-ND1, was found in several patients with a wide range of clinical phenotypes such as deafness, diabetes and cerebellar syndrome but no Leber's hereditary optic neuropathy. Although this mutation has already been described, its pathogenicity has not been demonstrated. Here, it was found isolated for the first time, allowing a study to investigate its pathogenicity. To do so, we constructed cybrid cell lines and carried out a functional study to assess the possible consequences of the mutation on mitochondrial bioenergetics. Results obtained demonstrated that this mutation causes an important dysfunction of the mitochondrial respiratory chain with a decrease in both activity and quantity of complex I due to a diminution of p.MT-ND1 quantity. However, no subcomplexes were found in cybrids carrying the mutation, indicating that the quality of the complex I assembly is not affected. Moreover, based on the crystal structure of p.MT-ND1 and the data found in the literature, we propose a hypothesis for the mechanism of the degradation of p.MT-ND1. Our study provides new insights into the pathophysiology of mitochondrial diseases and in particular of MT-ND1 mutations.

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.

BACKGROUND: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. METHODS: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. RESULTS: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic. DISCUSSION: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. CONCLUSION: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.

Dicas em Saúde: Surdez

Informações de utilidade pública sobre doenças, prevenção de acidentes, cuidados com a higiene, entre outros.

Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.

OBJECTIVE: The aim of this study was to determine and classify inner ear abnormalities in patients who had cochlear implants because of congenital sensorineural hearing loss using preoperative temporal bone computed tomography and magnetic resonance imaging. MATERIALS AND METHODS: Patients in the otolaryngology department who had cochlear implants because of congenital sensorineural hearing loss between January 2011 and December 2013 were included in the study. There were 167 male and 133 female patients, a total of 300. All of the patients were evaluated with 4-detector-row computed tomography and 1.5 Tesla magnetic resonance imaging. RESULTS: Inner ear abnormalities were found in 136 of 600 ears (20.3%). There were six ears with incomplete partition-II (4.4%), five ears with incomplete partition-I (3.6%), two ears with Michel deformity (1.4%), two ears with cochlear hypoplasia (1.4%), two ears with cochlear otosclerosis (1.4%), and one ear with common cavity deformity (0.7%). Dilatation of the internal acoustic canal was found in 42 ears (30.9%); also, 21 ears with cochlear nerve aplasia/hypoplasia (15.4%), 5 ears with internal acoustic canal aplasia, and 1 ear with internal acoustic canal hypoplasia (0.73%) were detected. There were 10 ears with posterior semicircular canal (7.3%), 10 ears with lateral semicircular canal (7.4%), 8 ears with superior semicircular canal aplasia/hypoplasia (5.9%), and 8 ears with lateral semicircular canal-vestibular dysplasia. An enlarged vestibular aqueduct was found in 16 ears (11.7%). High jugular bulbs were found in 21 ears; however, this variation was not considered to be an inner ear abnormality. CONCLUSION: Computed tomography and magnetic resonance imaging are essential for the evaluation, determination, and classification of inner ear abnormalities in patients with congenital sensorineural hearing loss who are candidates for cochlear implant operations. Also, these radiological instruments aid in determining contraindications and predicting intraoperative difficulties. Computed tomography and magnetic resonance imaging findings for these patients should be evaluated by an experienced radiologist before the operation.

[The reclassification of sudden deafness].

Objective:Reclassified the total deafness and flat type of sudden deafness,identified the relationship between new classification and hearing prognosis.Method:To analyze 192 cases of patients with sudden deafness,especially for 159 cases of flat type and total deafness patients for further curve type classification,classified as rise,decline and consistent,analysis the possible factors with hearing in multiple factors using regression analysis.Result:According to age group of 45 years old,P>0.05,the difference has not statistically significant;Course of the disease according to the 0-7 days and 14 days more,P<0.01,OR=4.291;8-14 days and 14 days,P<0.05,OR=2.983;According to the flat type and total deafness grouping,P<0.05,OR=0.409;According to the curve type of deafness,the difference between rise type and total deafness was significant,P<0.01,OR=9.692;Decline type,consistent type compared to total deafness type,there is no statistically significant difference,P>0.05.Conclusion:According to the pathogenesis of classification,sudden deafness can be divided into rise type,decline type and consistent type.The pathogenesis of rise type may be different degree of hydrops of inner ear.Decline type may be hair cell damage,and consistent type may be related to the damage of vascular stria and potential labyrinthitis,prognosis is poorer.

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

CONCLUSIONS: The mutation c.508_511dup in GJB2 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations. OBJECTIVES: This paper aimed to verify a series of patients with the frame-shift mutation c.508_511dup in the GJB2 gene and review the literature on related mutations. METHODS: All the included patients with non-syndromic hearing loss (NSHL) carried the 504insAACG or c.508_511dup mutation of the GJB2 gene in the present study. Their parents were encouraged to participate. After written informed consent and clinic data had been obtained, genomic DNA was extracted from venous blood of participants. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to bidirectional sequencing to identify sequence variations. RESULTS: A total of 14 patients with prelingual NSHL and 6 normal parents were recruited. Genotyping revealed that one mutation, c.508_511dup (not 504insAACG), was homozygous in 1 patient, heterozygous in 2 patients and 3 parents, and compound heterozygous in 11 patients. Twelve patients had hearing loss caused by c.508_511dup in a homozygous or compound heterozygous form, and further study showed that it was wrongly named as 504insAACG. Additionally, according to the standard nomenclature, the previously reported mutations with distinct names from the literature review may be replaced by c.508_511dup.

Assessment of telephone speech perception in individuals who received cochlear implant in the period 1993-2003 / Avaliacao da percepcao de fala ao telefone em individuos que receberam o implante coclear no periodo de 1993 a 2003

OBJECTIVE: To evaluate telephone speech perception in individuals who received cochlear implant in the period 1993-2003. METHODS: Twenty seven CI users were divided into pre and post-lingual groups, being the speech perception assessed in two stages: first by a list of sentences imposed on speakerphone with the same mapping used to evaluate the phone and, in a second stage, using the landline, landline phone adapter with CI and cell phone. RESULTS: In the group of pre-lingual hearing loss, 75% of subjects were able to maintain a dialogue with the interlocutor and 19% did so with difficulty. In the post-lingual group, 89% were able to maintain the dialogue with the interlocutor and 11% did so with difficulty. Both groups of subjects pre and post-lingual use the phone as a media, and most have satisfactory performance without the need for aid or CI accessories. CONCLUSION: One of the benefits of the CI is to introduce the life of the hearing impaired phone use regardless of their technology and accessories, as well as with the phone adapter and cell phone. In this study, most individuals CI users showed satisfactory performance in the comprehension of sentence and questions by the telephone, with better performance, although discrete, for the group post-lingual. Thus, there is the importance of careful indication of the IC and auditory rehabilitation program that minimize the impact of deafness in the communication, especially via telephone, regardless of the time when the hearing was acquired. So, this fact improves the conditions for CI users to maintain their daily activities, following the dynamism of contemporary life. .

OBJETIVO: Avaliar a percepção de fala ao telefone em indivíduos que receberam o implante coclear multicanal no período de 1993 a 2003. MÉTODOS: Vinte e sete usuários de IC foram divididos em grupos pré e pós-lingual, sendo que a percepção de fala foi avaliada em dois momentos: primeiramente por uma lista de sentenças aplicada a viva-voz com o mesmo mapeamento utilizado na avaliação ao telefone e, em um segundo, utilizando-se o telefone fixo, telefone fixo com adaptador para IC e telefone celular. RESULTADOS: No grupo de deficiência auditiva pré-lingual, 75% dos indivíduos foram capazes de manter o diálogo com o interlocutor e 19% o fizeram com dificuldade. Já no pós-lingual, 89% foram capazes de manter o diálogo com o interlocutor e 11% o fizeram com dificuldade. Tanto os indivíduos dos grupos pré quanto os do pós-lingual utilizam o telefone como meio de comunicação, e a maioria apresenta desempenho satisfatório sem a necessidade de auxílio ou acessórios do IC. CONCLUSÃO: Um dos benefícios do IC é introduzir na vida do deficiente auditivo o uso do telefone independente de sua tecnologia e acessórios, bem como o telefone com adaptador e o celular. Neste estudo, a maioria dos indivíduos usuários de IC apresentou desempenho satisfatório de compreensão de sentenças e perguntas ao telefone, com melhor desempenho, apesar de discreto, do grupo pós-lingual. Desta forma, verifica-se a importância da indicação criteriosa do IC e do programa de reabilitação auditiva, que minimizam os prejuízos da surdez na comunicação, principalmente via telefone, independente do momento no qual a deficiência auditiva foi adquirida. Assim, melhoram-se as condições para os usuários de IC manterem suas atividades ...

Assessment of telephone speech perception in individuals who received cochlear implant in the period 1993-2003.

OBJECTIVE: To evaluate telephone speech perception in individuals who received cochlear implant in the period 1993-2003. METHODS: Twenty seven CI users were divided into pre and post-lingual groups, being the speech perception assessed in two stages: first by a list of sentences imposed on speakerphone with the same mapping used to evaluate the phone and, in a second stage, using the landline, landline phone adapter with CI and cell phone. RESULTS: In the group of pre-lingual hearing loss, 75% of subjects were able to maintain a dialogue with the interlocutor and 19% did so with difficulty. In the post-lingual group, 89% were able to maintain the dialogue with the interlocutor and 11% did so with difficulty. Both groups of subjects pre and post-lingual use the phone as a media, and most have satisfactory performance without the need for aid or CI accessories. CONCLUSION: One of the benefits of the CI is to introduce the life of the hearing impaired phone use regardless of their technology and accessories, as well as with the phone adapter and cell phone. In this study, most individuals CI users showed satisfactory performance in the comprehension of sentence and questions by the telephone, with better performance, although discrete, for the group post-lingual. Thus, there is the importance of careful indication of the IC and auditory rehabilitation program that minimize the impact of deafness in the communication, especially via telephone, regardless of the time when the hearing was acquired. So, this fact improves the conditions for CI users to maintain their daily activities, following the dynamism of contemporary life.

[The impact of cochlear implant (CI) on the process of phonation and quality of life of patients with pre- and postlingual deafness]. / Wplyw implantu slimakowego (CI) na proces fonacji i komfort zycia pacjentów z gluchota pre- i postlingwalna.

UNLABELLED: Cochlear Implant (CI) is the most advanced method of treatment in receptive type of deafness and profound hearing loss. Good functioning auditory organ plays a significant role not only in auditory perception but also in the process of phonation, giving the possibility of good realization of the process of verbal communication. The aim of the study is to assess the quality of voice and life in adults with pre- and postlingual deafness treated using cochlear implant. MATERIAL AND METHODS: Twenty six patients with pre- (group I) and postlingual (group II) deafness deriving no benefit from hearing aids were included into the study. Voice quality was assessed using subjective and objective methods. The endoscopic (VLS) and stroboscopic (VLSS) examination of the larynx and the acoustic voice analysis were carried out. The quality of life was assessed using the Nijmegen Cochlear Implant Questionnaire (NCIQ). Examinations were conducted before implantation and 6 months after activation of speech processor. RESULTS: In the subjective and objective assessment of voice quality the improvement was registered in both groups. The effects were less spectacular in prelingual patients. In this group of patients the subjective assessment of voice quality and stroboscopic examination confirmed the hypofunctional type of dysphonia. In postlingual patients the hyperfunctional type of dysphonia was registered what was confirmed by the analysis of acoustic parameters of voice. The improvement of quality of life was observed in both groups of patients after implantation. CONCLUSIONS: The voice quality was improved after implantation in both analyzed groups. In patients with postlingual deafness values of parameters of voice quality assessment were closed to physiological. Results of the subjective assessment of voice quality were confirmed by objective examinations and the acoustic voice analysis. Rehabilitation with cochlear implant gave the opportunity for active participation in private and social life, improving the quality of life in patients with pre- and postlingual deafness.

Silent witnesses: deaf-mutes in Graeco-Roman antiquity.

This article highlights all known instances of individual deaf-mutes in antiquity, with special attention as to how their symptoms were described, which effects were emphasized, and in what context the cases were reported. Next, the Greek and Latin vocabulary to denote deaf-muteness will be examined. Then comparative anthropology, literary sources, papyri, inscriptions, and juridic cases are used to describe daily life conditions of deaf-mutes. As a conclusion, I suggest that misconceptions about the anatomy of deaf-muteness, combined with the focus on rhetoric, might have had an impact on the lives of the deaf-mutes and the approach towards these people, at lest in certain social environments.

[Assessment of speech and linguistic disorders in patients with cochlear implant--preliminary results]. / Ocena mowy i zaburzen jezykowych u chorych z implantem slimakowym--doniesienie wstepne.

UNLABELLED: Cochlear Implant (CI) is the most advanced technical solution in the treatment of profound hearing loss and deafness in patients of all age groups. The aim of the study was to analyse the speech and linguistic disorders in adults with pre- and postlingual deafness rehabilitated with Cochlear implant (CI). MATERIAL AND METHODS: 21 adults with pre- (I group) and postlingual (II group) deafness deriving no benefit from hearing aids participated in this study. Phonatory organ was examined by endoscopy (VLS) and stroboscopy (VLSS). Test of Auditory Perception (TSS) was conducted directly after the activation of speech processor and after rehabilitation. The logopedic assessment before and after CI was based on the examination of motoric activity of articulatory organs, type of respiration, loudness of speech and the assessment of articulation. The linguistic assessment of grammatical and lexical aspect was carried out. The prosodic elements of speech were also analysed. RESULTS: Stroboscopic examination pointed to hypofunction of larynx in patients with prelingual deafness and hyperfunction--in postlingual deafness. The values of TSS were improved after CI, especially in patients with postlingual deafness. The most severe disorders of the efficiency of articulatory organs were observed in patients with prelingual deafness before CI. In the group of prelingually deaf patients disorders of the articulation of vowels and consonants as well as the lexical and grammatical aspect of speech were improved after CI. The correctness of syntax and inflection, development of active vocabulary, improvement of prosodic elements of speech were noticed in patients with postlingual deafness after CI. CONCLUSIONS. Patients with postlingual deafness achieved better results of rehabilitation in auditory perception than prelingually deaf patients. The linguistic improvement of grammatical and lexical aspect was noticed especially in prelingually deaf patients after implantation. This group of patients achieved also the significant progress in prosodic elements of speech in comparison with the results before implantation.

[Traffic medicine expert opinions in otorhinolaryngology: current aspects]. / Verkehrsmedizinische Begutachtung in der HNO-Heilkunde : Aktuelle Aspekte.

According to German law granting of driving licenses depends on the proof of an adequate driving capability. The corresponding guidelines are at present in the process of being revised. At the moment bilateral deafness and high-grade hearing loss (> or = 60% in pure tone audiometry) are not exclusion criteria for driving licenses grades A, B and C, while driving licenses grade D and licenses for public transport are generally excluded. In the forthcoming revised edition of the guidelines it has been suggested that the latter group will also not be excluded. The regulations concerning dizziness are wide-sweeping at the moment as no driving license will be granted if dizziness is present but will be more specific in the next issue. In particular a division will be made between single axle and two axle vehicles. An expert assessment about driving suitability can only be made by a certified specialist with qualifications in traffic medicine.

Tone deafness: a new disconnection syndrome?

Communicating with one's environment requires efficient neural interaction between action and perception. Neural substrates of sound perception and production are connected by the arcuate fasciculus (AF). Although AF is known to be involved in language, its roles in non-linguistic functions are unexplored. Here, we show that tone-deaf people, with impaired sound perception and production, have reduced AF connectivity. Diffusion tensor tractography and psychophysics were assessed in tone-deaf individuals and matched controls. Abnormally reduced AF connectivity was observed in the tone deaf. Furthermore, we observed relationships between AF and auditory-motor behavior: superior and inferior AF branches predict psychophysically assessed pitch discrimination and sound production perception abilities, respectively. This neural abnormality suggests that tone deafness leads to a reduction in connectivity resulting in pitch-related impairments. Results support a dual-stream anatomy of sound production and perception implicated in vocal communications. By identifying white matter differences and their psychophysical correlates, results contribute to our understanding of how neural connectivity subserves behavior.

[Hearing loss among handicapped persons]. / La surdité parmi les handicaps.

Deafness appears to have a various impact on daily life, depending on the severity of the hearing loss. More often, mild and medium hearing loss are quickly rehabilited with hearing aids. Severe and profound hearing losses require a multidisciplinary evaluation, to determine the best treatment (speech therapy, cochlear implantation). Audiologic evaluation can be completed by handicap inventory specific for hearing loss, in order to appreciate the individual impact. Recently in France (2005) a law has demonstrated the determination of State's institutions to improve the daily life with handicap, and particularly in case of deafness.

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Mutations in connexins (Cxs), the constitutive protein subunits of gap junction (GJ) intercellular channels, are one of the most common human genetic defects that cause severe prelingual non-syndromic hearing impairments. Many subtypes of Cxs (e.g., Cxs 26, 29, 30, 31, 43) and pannexins (Panxs) are expressed in the cochlea where they contribute to the formation of a GJ-based intercellular communication network. Cx26 and Cx30 are the predominant cochlear Cxs and they co-assemble in most GJ plaques to form hybrid GJs. The cellular localization of specific Cx subtypes provides a basis for understanding the molecular structure of GJs and hemichannels in the cochlea. Information about the interactions among the various co-assembled Cx partners is critical to appreciate the functional consequences of various types of genetic mutations. In vitro studies of reconstituted GJs in cell lines have yielded surprisingly heterogeneous mechanisms of dysfunction caused by various Cx mutations. Availability of multiple lines of Cx-mutant mouse models has provided some insight into the pathogenesis processes in the cochlea of deaf mice. Here we summarize recent advances in understanding the structure and function of cochlear GJs and give a critical review of current findings obtained from both in vitro studies and mouse models on the mechanisms of Cx mutations that lead to cell death in the cochlea and hearing loss.

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis-ichthyosis-deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias.