Draft Genome Sequence of the Plant Growth Promoter and Biocontrol Agent Bacillus velezensis Strain BIB0110.

Here, we report the draft genome sequence of Bacillus velezensis strain BIB0110, a broad-range biocontrol agent isolated from cultivated eucalyptus in Brazil. The genome has a size of 4.19 Mbp, with a GC content of 45.87%, and it was assembled into 32 scaffolds.

Are hearing protection devices used in the workplace really efficient? A systematic review.

BACKGROUND: The most common current hearing protection devices (HPDs) on the market include earplugs and earmuffs. A variety of materials can be used to manufacture these devices, and each offers a level of noise attenuation that is informed by the manufacturer although it does not always correspond to the attenuation observed in real-world use. OBJECTIVE: To evaluate the noise attenuation of HPDs available to workers exposed to noise. METHODS: The most relevant studies originally published in English, Portuguese, or Spanish that investigated the noise attenuation effectiveness of HPDs used by workers exposed to noise were analyzed. The following electronic databases were searched by 2 independent reviewers for studies published from 1999 to 2019: MEDLINE (PubMed), Scopus, Web of Science, EMBASE, Cochrane Library (OVID), ProQuest, and BVS-Bireme. Different combinations of the following search terms (MeSH terms) were used for all databases: "Hearing Loss, Noise-Induced", "Ear Protective Devices" (Efficacy OR Effectiveness)", "Noise, Occupational". RESULTS: The search strategy yielded a total of 326 potentially relevant studies. After the removal of duplicates, 156 remained for the screening of titles and abstracts. After reviewing titles and abstracts, 46 studies were selected for full-text reading. Of these, six were included in this systematic review. CONCLUSION: Hearing protection devices reduced the noise exposure and were effective in all included studies in different countries, types of activity, and sound pressure exposure.

Is it necessary to perform occupational audiometric testing at 6-months of employment? / É necessário fazer teste audiométrico ocupacional 6 meses após a admissão?

Abstract Introduction: Current Brazilian legislation requires that all workers exposed to noise are to be given an audiogram upon hiring, after 6 months of employment (first periodic test), and annually after the first periodic test. In other countries, the regulations of hearing conservation programs do not include the requirement for audiometric testing at 6 months of employment, but only annually. There is no evidence that the periodicity adopted by Brazilian legislation is the most appropriate. Objective: The present study aimed to evaluate the first 3 occupational audiometric tests of workers exposed to noise. Methods: Historical cohort study with cross-sectional analysis. Participants were all male metallurgy workers aged up to 40 years. The first 3 audiograms of each worker were analyzed: pre-employment audiometric test, periodic audiometric test 1, and periodic audiometric test 2. For each worker, mean frequency thresholds were calculated at 3, 4, and 6 kHz in the left and right ears for each test. Statistical analysis was performed using the nonparametric Wilcoxon test. Results: A total of 988 workers were included. There was a significant difference in auditory thresholds between the pre-employment test and the 2 subsequent periodic tests for the right and left ears. There was no significant difference between Test1 and Test2 in either ear. Conclusion: Given the lack of difference between the first 2 periodic tests, we believe that they could be merged into a single test, i.e., first periodic audiometric testing could be performed at 12 months of employment without compromising workers' health.

Resumo Introdução: A legislação brasileira atual exige que todos os trabalhadores expostos a ruído recebam um audiograma na admissão, 6 meses após a admissão (primeiro teste periódico), e anualmente após o primeiro teste periódico, mas em outros países as regulamentações dos programas de conservação auditiva não incluem a exigência de teste audiométrico após 6 meses de admissão, mas apenas anualmente. Não há evidências de que a periodicidade adotada pela legislação brasileira seja a mais adequada. Objetivo: Avaliar os três primeiros exames audiométricos ocupacionais de trabalhadores expostos ao ruído. Método: Estudo de coorte histórica com análise transversal. Os participantes eram todos trabalhadores metalúrgicos do sexo masculino com até 40 anos. Os três primeiros audiogramas de cada trabalhador foram analisados: teste audiométrico pré-admissão, teste audiométrico periódico 1 e teste audiométrico periódico 2. Para cada trabalhador, os limiares de frequência médios foram calculados em 3, 4 e 6 kHz nas orelhas esquerda e direita para cada teste. A análise estatística foi feita através do teste não paramétrico de Wilcoxon. Resultados: Foram incluídos 988 trabalhadores. Houve uma diferença significante nos limiares auditivos entre o teste pré-admissão e os 2 testes periódicos subsequentes para as orelhas direita e esquerda. Não houve diferença significante entre o teste 1 e o teste 2 em nenhuma das orelhas. Conclusão: Dada a falta de diferença entre os 2 primeiros testes periódicos, acreditamos que eles poderiam ser combinados em um único teste, ou seja, o primeiro teste audiométrico periódico poderia ser feito após 12 meses de admissão sem comprometer a saúde dos trabalhadores.

Five-Year Longitudinal Cohort Study Determines the Critical Intervals for Periodic Audiometric Testing Based on 5070 Tests of Metallurgical Workers Exposed and Nonexposed to Noise.

OBJECTIVES: To compare the progression of 3-, 4-, and 6-kHz thresholds (pure-tone average) over 5 years and determine the most critical period for occupational risk among workers exposed and nonexposed to noise. DESIGN: Metallurgical workers were divided into 2 groups: noise-exposed and non-noise-exposed groups. The 6 initial audiometric tests of each worker were analyzed as baseline test and annual tests 1 to 5. RESULTS: A total of 845 workers were included, 748 in the noise-exposed group and 97 in the non-noise-exposed group, resulting in 5070 tests analyzed. The nonexposed group showed no significant difference in the mean pure-tone averages between any of the annual tests in either ear. In the exposed group, a significant difference was observed in mean pure-tone averages between baseline and Test1 (p = 0.001 right ear; p = 0.001 left ear), between Test3 and Test4 (p = 0.002 right ear; p = 0.005 left ear), and between Test4 and Test5 (p = 0.003 right ear; p = 0.001 left ear). There was no difference between Test1 and Test2 or between Test2 and Test3 in either ear. CONCLUSIONS: The progression of pure-tone averages at 3, 4, and 6 kHz differed between workers exposed and nonexposed to noise. Noise-exposed workers had a significant progressive worsening of audiometric thresholds after 3 years of employment. This study identified, in an unprecedented way, two critical periods of noise exposure: in the first year and after the third year of employment in a noisy environment.

Is it necessary to perform occupational audiometric testing at 6-months of employment?

INTRODUCTION: Current Brazilian legislation requires that all workers exposed to noise are to be given an audiogram upon hiring, after 6 months of employment (first periodic test), and annually after the first periodic test. In other countries, the regulations of hearing conservation programs do not include the requirement for audiometric testing at 6 months of employment, but only annually. There is no evidence that the periodicity adopted by Brazilian legislation is the most appropriate. OBJECTIVE: The present study aimed to evaluate the first 3 occupational audiometric tests of workers exposed to noise. METHODS: Historical cohort study with cross-sectional analysis. Participants were all male metallurgy workers aged up to 40 years. The first 3 audiograms of each worker were analyzed: pre-employment audiometric test, periodic audiometric test 1, and periodic audiometric test 2. For each worker, mean frequency thresholds were calculated at 3, 4, and 6 kHz in the left and right ears for each test. Statistical analysis was performed using the nonparametric Wilcoxon test. RESULTS: A total of 988 workers were included. There was a significant difference in auditory thresholds between the pre-employment test and the 2 subsequent periodic tests for the right and left ears. There was no significant difference between Test1 and Test2 in either ear. CONCLUSION: Given the lack of difference between the first 2 periodic tests, we believe that they could be merged into a single test, i.e., first periodic audiometric testing could be performed at 12 months of employment without compromising workers' health.

Oral Langerhans Cell Histiocytosis in Two Pediatric Patients.

We report two cases of Langerhans cell histiocytosis (LCH) in the oral cavity of children. An 11-month-old girl was referred for evaluation of a nodular and sessile lesion in the alveolar ridge covering the primary left mandibular central incisor. The second patient was a seven-year-old boy with an ulcerated lesion in the gingiva covered by necrotic areas, extending to the sulcus of the vestibule. The patients underwent incisional biopsies and histopathological exams showed a proliferation of Langerhans and eosinophil cells, suggesting a diagnosis of LCH, which was confirmed by positive immunohistochemical expression of S100 and CD1.

Progressive Asymmetry in Occupational Noise-Induced Hearing Loss: A Large Population-Based Cohort Study With a 15-Year Follow-Up.

BACKGROUND: To evaluate interaural differences between the right and left ears at frequencies from 0.25 to 8 kHz in 3 groups of workers from metallurgy companies. METHODS: This study is a cross-sectional cohort study. Workers were divided into 3 groups: (1) workers without occupational noise exposure and normal audiometric testing; (2) workers with 10 years of occupational noise exposure; and (3) workers with 15 years of occupational noise exposure. The interaural difference from 0.25 to 8 kHz was measured in each group. RESULTS: A total of 2103 workers were included. Of these, 483 workers had been exposed to noise in the workplace for 10 years and 216 workers for 15 years. Group 1, only at 4 and 6 kHz, the difference was statistically significant. Group 2, only at 3 , 4 , and 6 kHz, the difference was statistically significant. Group 3, the difference was statistically significant at the frequencies from 2 to 8 kHz. CONCLUSION: Asymmetry between the right and left ears was observed in all groups, with higher air-conduction thresholds in the left ear. It is important for otolaryngologists be aware that NIHL can also cause or accentuate asymmetry between the right and left ears over time.

Effect of Noise Exposure on 1,382 Metallurgical Workers in Periodic Audiometric Evaluation: A Cohort Study.

INTRODUCTION: Noise-induced hearing loss is the most preventable cause of auditory impairment. Periodic audiometric evaluations are essential to monitor the hearing health of noise-exposed workers. OBJECTIVE: To compare the evolution of audiometric thresholds in the initial three evaluations at frequencies of 3, 4, and 6 kHz in groups of workers exposed or not to noise. METHODS: In this historical cohort study, audiometric evaluations were obtained from male workers between 18 and 40 years of age at six different metallurgical companies in Brazil. The workers were separated into noise-exposed and non-noise-exposed groups. The mean thresholds for 3, 4, and 6 kHz were calculated for both ears at baseline and the first and second periodic evaluations. The non-parametric Wilcoxon test was used for statistical analysis. RESULTS: A total of 1,382 metallurgical workers were evaluated (1,199 noise-exposed and 183 non-noise-exposed). There was a significant difference between baseline and the first periodic evaluation (right ear - effect size = 0.62; p = 0.0030 and left ear - effect size = 0.74; p = 0.0063) and between baseline and the second periodic evaluation (right ear - effect size = 0.85; p = 0.004 and left ear - effect size = 0.96; p = 0.0002). In the non-noise-exposed group, there was no difference between baseline and the first periodic evaluation (right ear - effect size = 0.18; p = 0.2703 and left ear - effect size = 0.12; p = 0.7907) and between baseline and the second periodic evaluation (right ear - effect size = 0.29; p = 0.4475 and left ear - effect size = 0.41; p = 0.6381). CONCLUSION: In noise-exposed workers, there was a significant worsening of audiometric thresholds between baseline and the initial periodic evaluation, but there was no difference between the two post-baseline evaluations. This shows that noise exposure can quickly affect hearing, despite protective measures.

Efeito do consumo de álcool no desenvolvimento de lesão periapical induzida em ratos: uma análise microtomográfica / The Effect of Alcohol Consumption on the Development of Periapical Lesion Induced in Rats: a Micro-CT Analysis

Objetivo: O objetivo deste estudo foi avaliar a influência do consumo crônico de álcool no aumento da destruição óssea periapical em ratos. Material e métodos: Foram selecionados 12 ratos machos da linhagem Wistar, aleatoriamente divididos nos grupos controle e álcool (n=6). Os ratos do grupo álcool foram submetidos à auto-administração de solução alcoólica contendo 25% de álcool puro. O grupo controle recebeu apenas água filtrada durante o estudo. Após as 5 semanas de adaptação do grupo álcool, todos os ratos foram anestesiados e a polpa dos seus primeiros molares inferiores esquerdos foi exposta à cavidade oral para indução da lesão periapical. Após 28 dias de exposição pulpar, os ratos foram sacrificados por sobredose de anestesia, e suas mandíbulas foram removidas e seccionadas para avaliação microtomográfica. As hemimandíbulas esquerdas foram fixadas e escaneadas no microtomógrafo SkyScan 1173 (Bruker, Kontich, Belgium). O tamanho da lesão periradicular foi medido a partir das imagens de microtomografia computadorizada (micro-CT), onde foram calculados a área de superfície e o volume da lesão. Também foram avaliadas a taxa percentual de ganho de peso e a ingestão de sólidos/líquidos dos grupos. Os dados foram estatisticamente analisados utilizando o teste t de Student (p<0,05). Resultados: Os animais do grupo controle tiveram uma maior taxa percentual de ganho de peso corporal e de ingestão tanto de sólidos como de líquidos (p<0,05). As lesões periapicais apresentaram maior volume e maior área nos animais do grupo álcool, em comparação ao grupo controle (p<0,05). Conclusão: O consumo crônico de álcool contribuiu para o aumento da destruição óssea periapical em casos de periodontite apical.

Objective: the aim of this study was to evaluate the influence of alcohol consumption on the increase of periapical bone destruction in rats. Material and Methods: the sample included 12 Wistar male rats, randomly assigned into a control group and an alcohol group (n=6). Rats in the alcohol group were submitted to self-administration of a 25% pure alcoholic solution. The control group received only filtered water throughout the study. After 5 weeks of adaptation to the alcohol dose, all animals were anesthetized and the pulps of their mandibular left first molar were exposed to the oral cavity to induce periapical lesion. Twenty-eight days after the pulp exposure, those rats were euthanized due to overdose of anesthesia and their mandibles were removed and sectioned to obtain a micro-computed tomographic (micro-CT) scan. The rats' left hemimandibles were fixed and scanned on the SkyScan 1173 (Bruker, Konitch, Belgium) microtomograph. The size of the periradicular lesions was measured from the images obtained on the micro-CT and the surface area and volume were calculated. It was also evaluated the weight gain rate and the ingestion of solid/liquid of both groups. Data were analyzed by the Student's t-test (p<0.05). Results: the control group showed higher rates of weight gain and ingested more solid and liquid than the alcohol group (p<0.05). Periapical lesions found in the alcohol group had higher volume and surface area than the ones of the control group (p<0.05). Conclusion: the chronic consumption of alcohol contributed to the increase of periapical bone destruction in cases of apical periodontitis

Biocontrol of Botrytis cinerea and Calonectria gracilis by eucalypts growth promoters Bacillus spp.

The clonal Eucalyptus plants are commonly obtained by vegetative propagation under a protected environment. This system improves the Botrytis cinerea and Calonectria spp infection on the young eucalypts plantings, resulting gray mold and cutting rot respectively. Currently, the unique available control method is based on chemicals. As alternative, novel methods to manage plant diseases, endophytic microorganisms could be an interesting alternative. Thus, we aimed to evaluate endophytic Bacillus isolated from eucalypts as a biocontrol agent against Botrytis cinerea and Calonectria gracilis, important fungal pathogens in the greenhouse, using clonal plantlets of E. urograndis. Eight endophytic strains of Bacillus, previously described as eucalyptus growth promoters, were evaluated in vitro and in vivo against Botrytis cinerea and Calonectria gracilis. The diffusible metabolites assay showed the potential of endophytic Bacillus to decrease the growth of both pathogens. Differences in the susceptibility of the pathogens to bacterial volatile metabolites were observed, B. cinerea showed more susceptible than Calonectria gracilis. In vivo assays, Bacillus amyloliquefaciens EUCB 10 demonstrated better overall reductions in these diseases. Based on the results obtained from the in vitro and in vivo analyses, we suggest that the endophytic B. amyloliquefaciens strain EUCB 10 constitutes a promising biocontrol agent against B. cinerea and Calonectria gracilis. Furthermore, this is the first reporting of B. amyloliquefaciens previously describe as plant growth promoter and also as potential control agent of B. cinerea and Calonectria gracilis to eucalyptus.

Cochlear implants: Insertion assessment by computed tomography.

BACKGROUND AND OBJECTIVES: Imaging exams play a key role in cochlear implants with regard to both planning implantation before surgery and quality control after surgery. The ability to visualize the three-dimensional location of implanted electrodes is useful in clinical routines for assessing patient outcome. The aim of this study was to evaluate linear and angular insertion depth measurements of cochlear implants based on conventional computed tomography. METHODS: Tools for linear and angular measurements of cochlear implants were used in computed tomography exams. The tools realized the insertion measurements in an image reconstruction of the CIs, based on image processing techniques. We comprehensively characterized two cochlear implant models while obviating possible changes that can be caused by different cochlea sizes by using the same human temporal bones to evaluate the implant models. RESULTS: The tools used herein were able to differentiate the insertion measurements between two cochlear implant models widely used in clinical practice. We observed significant differences between both insertion measurements because of their different design and construction characteristics (p = 0.004 and 0.003 for linear and angular measurements, respectively; t-test). The presented methodology showed to be a good tool to calculate insertion depth measurements, since it is easy to perform, produces high-resolution images, and is able to depict all the landmarks, thus enabling measurement of the angular and linear insertion depth of the most apical electrode contacts. CONCLUSION: The present study demonstrates practical and useful tools for evaluating cochlear implant electrodes in clinical practice. Further studies should measure preoperative and postoperative benefits in terms of speech recognition and evaluate the preservation of residual hearing in the implanted ear. Such studies can also determine correlations between surgical factors, electrode positions, and performance. In addition to refined surgical techniques, the precise evaluation of cochlear length and correct choice of cochlear implant characteristics can play an important role in postoperative outcomes.

Prevalence and antimicrobial susceptibility profile of microorganisms in a university hospital from Vitória (ES), Brazil / Prevalência de microrganismos e perfil de suscetibilidade antimicrobiana em um hospital universitário de Vitória (ES), Brasil

ABSTRACT INTRODUCTION: Healthcare associated infections (HAIs) occur during the hospital stay as a result of underlying morbidity, invasive procedures, acute pathology or medical treatment. They lead prolonged stay and, consequently, to an increase in financial charges. The main tool to control these infections is the use of antimicrobials. However, the increase in resistance and the low frequency of discovery of new drugs justify the research that evaluates the resistance profile of microorganisms to antimicrobials. OBJECTIVE: To evaluate the prevalence and antimicrobial susceptibility profile of HAIs at a philanthropic reference hospital in Espírito Santo, Brazil. METHODS: Observational, retrospective and cross-sectional study, between July 2014 and June 2016. Data on blood, urine and corporal secretions culture were collected from the data base of the Hospital Infection Control Commission. RESULTS: There was a high prevalence of HAIs in patients older than 60 years. Two hundred and forty three (47.55%) patients were female. The four most prevalent bacteria were: Acinetobacter spp., Klebsiella pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus. Polymyxin was the drug which presented the best antimicrobial effects. CONCLUSION: Polymyxin was active in vitro against all isolates of Acinetobacter spp. Regarding K. pneumoniae, both polymyxin and amikacin showed a significant effectiveness. Regarding Pseudomonas aeruginosa, polymyxin was effective in all samples. Regarding S. aureus, teicoplanin, daptomycin and vancomycin were effective in all samples. Polymyxin showed a good overall in vitro activity.

RESUMO INTRODUÇÃO: As infecções relacionadas com a assistência à saúde (IRAS) ocorrem durante a internação como resultado de morbidade subjacente, procedimentos invasivos, patologia aguda ou tratamento médico. Elas levam à prolongada permanência e, consequentemente, à carga econômica. A principal ferramenta para conter essas infecções são os antimicrobianos. No entanto, o aumento da resistência e a baixa taxa de descoberta de novos medicamentos justificam a pesquisa que avalia o perfil de resistência de microrganismos aos antimicrobianos. OBJETIVO: Avaliar a prevalência e o perfil de suscetibilidade antimicrobiana das IRAS ocorridas em um hospital filantrópico de referência do Espírito Santo, Brasil. MÉTODOS: Estudo observacional, retrospectivo e transversal, entre julho de 2014 e junho de 2016. Os dados sobre cultura de sangue, urina e secreções corporais foram coletados da base de dados do Centro de Controle de Infecção Hospitalar. RESULTADOS: Houve alta prevalência de IRAS em pacientes com mais de 60 anos. Duzentos e quarenta e três (47.55%) pacientes eram do sexo feminino. As quatro bactérias mais prevalentes foram: Acinetobacter spp., Klebsiella pneumoniae, Pseudomonas aeruginosa e Staphylococcus aureus. A polimixina foi a droga que apresentou os melhores efeitos antimicrobianos. CONCLUSÃO: A polimixina foi ativa in vitro contra todos os isolados de Acinetobacter spp. Quanto à K. pneumoniae, tanto a polimixina quanto a amicacina apresentaram eficácia significativa. Em relação à Pseudomonas aeruginosa, a polimixina foi efetiva em todas as amostras. Já em relação ao S. aureus, teicoplanina, daptomicina e vancomicina foram efetivas em todas as amostras. A polimixina demonstrou um bom desempenho geral in vitro.

Tonsillar Lymphoma in Children According to Age Group: A Systematic Review.

INTRODUCTION: Lymphoma is a common malignant tumor of the head and neck occurring during childhood. Early diagnosis is very important in terms of prognosis in patients with tonsillar lymphoma.Our objective was to evaluate the clinical manifestations of pediatric tonsillar lymphoma according to different age groups. MATERIALS AND METHODS: A systematic review of available English, Spanish, or Portuguese literature from January 1996 to June 2012 was performedin the BIREME, Cochrane, IBECS, Lilacs, PubMed/Medline, SCIELO, and Scopus databases, using "tonsillar lymphoma" and "children" as keywords. Inclusion criteria were pediatric case reports, patients aged up to 18 years, and information on clinical features at the time of diagnosis. RESULTS: Out of 87 identified publications, 13 articles were selected describing 53 patients. Tonsillar asymmetry was the most common sign. Snoring is a common sign in patients aged under 5 years; clinical lymphadenopathy is frequent among patients aged between 6 and 10 years; and dysphagia is a common sign in patients between 11 and 18 years of age. Burkitt's lymphoma is the most common form among all ages studied, followed by B-cell lymphoma. CONCLUSION: Clinical manifestations differ according to age group. However, tonsillar asymmetry is the most frequent sign regardless of age group.

Histologic correlation of VEGF and COX-2 expression with tumor size in squamous cell carcinoma of the larynx and hypopharynx.

The prognosis and survival of patients with laryngeal and hypopharyngeal squamous cell carcinoma (SCC) are related to the clinical staging. Tumor growth and metastasis are closely related to angiogenesis. Vascular endothelial growth factor (VEGF) and cyclooxygenase 2 (COX-2) are intimately related to the angiogenic process in which the blood supply required for neoplastic evolution is ensured. Considering the contributions of VEGF and COX-2 to the formation, growth, and progression of primary tumors, as well as their metastasis, it has been thought that the expression of these two factors might be related to the size and/or aggressiveness of laryngeal and hypopharyngeal cancer. To test that theory, we conducted a retrospective study to evaluate the expression of VEGF and COX-2 markers in archived specimens of SCC of the larynx and hypopharynx to correlate their expression with tumor size. These specimens had been obtained from 35 patients-31 men and 4 women, aged 37 to 75 years (mean: 57)-who had been treated for laryngeal or hypopharyngeal SCC at our tertiary care university hospital over a period of 15 years. Immunohistochemical analyses were performed with avidin-biotin-peroxidase staining for VEGF and COX-2 antibodies. The degree of VEGF and COX-2 expression was based on the German scale of immunoreactivity. Specimens were separated into groups based on the intensity of expression (none/low and moderate/strong) and tumor size (TNM categories T1/T2 and T3/T4). A total of 7 patients exhibited moderate or strong VEGF expression (3 from the T1/T2 group and 4 from the T3/T4 group), and 17 patients demonstrated moderate or strong COX-2 expression (8 from the T1/T2 group and 9 from the T3/T4 group). We found no statistically significant relationship between tumor size and either VEGF or COX-2 expression. Our study demonstrated that despite the intrinsic connection between and VEGF and COX-2, neither appears to be related to the size of the SCCs of the larynx or hypopharynx. Other factors must be involved in the pathogenesis and progression of this disease, and further studies are needed to identify them.

Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.

The auditory neuropathy is a condition which there is a dyssynchrony in the nerve conduction of the auditory nerve fibers. There is no evidence about the relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene. There are only two studies about this topic in the medical literature. Connexin 26 (GJB2 gene) mutations are common causes of genetic deafness in many populations and we also being reported in subjects with auditory neuropathy. OBJECTIVE: To analyze the pattern of clinical relationship between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene. PATIENTS AND METHODS: Study Design - Retrospective analysis and genetic evaluation. Setting - Tertiary referral center. Subjects - 40 patients with Auditory Neuropathy Spectrum Disorder. Intervention - Clinical information and genetic evaluation (GJB2 gene) were analyzed. RESULTS: Biallelic mutations that accounted for hearing loss (HL) were found in three patients, both with c.35delG mutation in homozygous state. The splice site mutation IVS1+1G>A was detected in heterozygous state in one individual. However, since the second mutant allele was not identified, it was not possible to establish its correlation with the phenotype. CONCLUSION: Mutations in GJB2 gene mutations were found in 7.5% of the patients with ANSD. We found no relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene (p>0.05).

[Auditory Neuropathy: Clinical Evaluation and Diagnostic Approach]. / Neuropatia Auditiva: Avaliação Clínica e Abordagem Diagnóstica.

INTRODUCTION: Auditory neuropathy is a condition in which there is a change in the neuronal transmission of the auditory stimuli. Our objective was to describe the patients' series within the clinical spectrum of auditory neuropathy. MATERIAL AND METHODS: We designed a transversal, retrospective study, with a description of a consecutive case series. Auditory neuropathy was defined by the presence of acoustic otoemissions plus absent/abnormal auditory brainstem responses with cochlear microphonism. RESULTS: 34 patients with bilateral hearing loss, 23 males and 11 females, were included in the study. Eighty percent of the cases had congenital onset of hearing loss. Acoustic otoemissions were absent in 67% of them. Cochlear microfonism was present in 79% of all cases. Prenatal, perinatal or ambiental factors were present in 35.2% of the cases. DISCUSSION: Medical literature shows great variability in findings related to auditory neuropathy, both in its etiology and epidemiological data. CONCLUSION: Auditory neuropathy presents a broad spectrum of changes that may result from mild to severe changes in the functioning of the auditory pathway, and in our sample we observed that 80% of Auditory neuropathy have congenital onset of hearing loss and/or with cochlear microphonism identified. 91% of patients experience significant hearing impairment and 53% suffer from severe or profound deafness.

Introdução: A neuropatia auditiva é uma condição na qual há alteração na condução neuronal do estímulo sonoro. Este trabalho pretende descrever e caracterizar a casuística de doentes com neuropatia auditiva. Material e Métodos: Realizámos um estudo transversal, retrospetivo, com descrição de uma série de casos consecutivos. O diagnóstico da neuropatia auditiva foi definido nas seguintes situações: Presença de otoemissões acústicas com potenciais auditivos de tronco encefálico ausente ou anormal e presença do microfonismo coclear independentemente da presença de otoemissões acústicas. Resultados: Foram avaliados 34 doentes com perda auditiva bilateral, 67% deles do sexo masculino. O aparecimento dos sintomas foi congênito em 80% dos casos. Na pesquisa das otoemissões acústicas, a resposta foi ausente em 67% dos doentes. O microfonismo coclear foi detetado em 79% dos doentes. Antecedentes gestacionais, perinatais ou ambientais relevantes estiveram presentes em 35,3% dos casos. Discussão: A literatura médica ainda apresenta grande variabilidade nos achados relacionados com a neuropatia auditiva, tanto na sua etiologia quanto nos dados epidemiológicos. Conclusão: A neuropatia auditiva apresenta um amplo espectro de alterações que podem resultar em disfunções leves a severas no funcionamento da via auditiva. Na nossa amostra, observámos que 80% das neuropatias auditivas terão tido origem congênita e/ou apresenta microfonismo coclear, 91% dos doentes apresenta défice auditivo significativo e 53% sofrem de surdez severa ou profunda.