Comportamento Auditivo e Validação no Diagnóstico Audiológico e Intervenção em Bebês e Crianças com Deficiência Auditiva / Auditory Behavior and Validation in Audiological Diagnosis and Intervention in Infants and Children with Hearing Impairment / Comportamiento auditivo y validación en el diagnóstico e intervención audiológicos en bebés y niños con deficiencia auditiva

Introdução: A atuação profissional com bebês e crianças pequenas com deficiência auditiva exige conhecimento e técnica específica no que diz respeito à prescrição e adaptação do aparelho de amplificação sonora individual (AASI) e ao processo de desenvolvimento de linguagem. Limitações e imprecisões ao longo do processo diagnóstico poderão comprometer todos os procedimentos subsequentes do processo de intervenção. Objetivo: Analisar a validação do processo de diagnóstico audiológico e intervenção em bebês e crianças com deficiência auditiva a partir da análise comparativa de exames audiológicos, comportamento auditivo e aplicação do princípio de verificação cruzada após adaptação de AASI. Método: Foram sujeitos da pesquisa 12 crianças de até 36 meses de idade, com diagnóstico de perda auditiva neurossensorial bilateral, selecionados a partir da disponibilidade de acesso ao serviço para a avaliação e agrupados em G1 (sujeitos com Índice de Inteligibilidade de Fala - SII 65 dB até 35%) e G2 (sujeitos com Índice de Inteligibilidade de Fala - SII 65 dB acima de 54%). Resultados: A média de idade do diagnóstico audiológico foi de 4,33 meses. Os resultados audiológicos de todas as crianças tiveram correspondência entre si, com exceção de dois sujeitos do G2. Conclusão: O comportamento auditivo não só permitiu a validação dos processos de diagnóstico e intervenção auditiva dos sujeitos da pesquisa, como também permitiu a identificação de comportamentos não compatíveis com a audibilidade devido ao uso inconsistente dos AASI. A aplicação dos instrumentos de acompanhamento de desenvolvimento mostrou-se adequada para o monitoramento do desenvolvimento de habilidades de audição e linguagem em crianças pequenas. (AU)

Introduction: Professional work with infants and young children with hearing impairment requires specific knowledge and technique regarding the prescription and adaptation of the individual sound amplification device (PSAD) and the language development process. Limitations and inaccuracies throughout the diagnostic process may compromise all subsequent procedures of the intervention process. Purpose: To analyze the validation of the process of audiological diagnosis and intervention in infants and children with hearing impairment based on the comparative analysis of audiological tests, auditory behavior and application of the cross-checking principle after adaptation of hearing aids. Method: The research subjects were 12 children aged up to 36 months, with a diagnosis of bilateral sensorineural hearing loss, selected from the availability of access to the service for the evaluation and grouped into G1 (subjects with Speech Intelligibility Index - SII 65 dB up to 35%) and G2 (subjects with Speech Intelligibility Index - SII 65 dB above 54%). Results: The average age of the audiological diagnosis was 4.33 months. The audiological results of all children corresponded to each other, except for two subjects from G2. Conclusion: The auditory behavior not only allowed the validation of the processes of diagnosis and auditory intervention of the research subjects, but also allowed the identification of behaviors that are not compatible with audibility due to the inconsistent use of hearing aids. The application of developmental monitoring instruments proved to be adequate for monitoring the development of hearing and language skills in young children. (AU)

Introducción: El trabajo profesional con lactantes y niños pequeños con discapacidad auditiva requiere conocimientos y técnica específicos respecto a la prescripción y adaptación del dispositivo individual de amplificación del sonido (PSAD) y el proceso de desarrollo del lenguaje. Las limitaciones e imprecisiones a lo largo del proceso de diagnóstico pueden comprometer todos los procedimientos posteriores del proceso de intervención. Propósito: Analizar la validación del proceso de diagnóstico e intervención audiológica en lactantes y niños con discapacidad auditiva a partir del análisis comparativo de pruebas audiológicas, conducta auditiva y aplicación del principio de cruce tras adaptación de audífonos. Método: Los sujetos de investigación fueron 12 niños de hasta 36 meses, con diagnóstico de hipoacusia neurosensorial bilateral, seleccionados de la disponibilidad de acceso al servicio para la evaluación y agrupados en G1 (sujetos con Índice de inteligibilidade del Habla - SII 65 dB hasta 35%) y G2 (sujetos com Índice de inteligibilidade del Habla - SII 65 dB por encima del 54%). Resultados:La edad promedio del diagnóstico audiológico fue de 4,33 meses. Los resultados audiológicos de todos los niños se correspondieron entre sí, a excepción de dos sujetos del G2. Conclusión: La conducta auditiva no sólo permitió validar los procesos de diagnóstico e intervención auditiva de los sujetos de investigación, sino que también permitió identificar conductas no compatibles con la audibilidad debido al uso inconsistente de audífonos. La aplicación de instrumentos de seguimiento del desarrollo demostró ser adecuada para controlar el desarrollo de las habilidades auditivas y lingüísticas en niños pequeños. (AU)

Contribuição do potencial evocado auditivo de estado estável na escolha do implante coclear ou aparelho de amplificação sonora em crianças com perda auditiva / Contribution of auditory steady state evoked potential to the election of cochlear implantation or hearing aid for children with hearing impairment / Contribución del potencial evocado auditivo de estado estable en la elección de implantación coclear o audífono en niños con deficiencia auditiva

Introdução: A deficiência auditiva em crianças prejudica a aquisição e o desenvolvimento da linguagem oral, o que pode ser minimizado com o diagnóstico e a confirmação da surdez nos primeiros meses de vida. O Potencial Evocado auditivo de estado estável (PEAEE) destaca-se diante dos demais potenciais evocados auditivos devido à facilidade de registro, à objetividade das respostas, à estimulação de várias frequências simultaneamente, em ambas as orelhas, além da identificação da audição residual. Objetivo: Verificar a contribuição do PEAEE na definição terapêutica (escolha do implante coclear ou aparelho de amplificação sonora) para a reabilitação auditiva de crianças. Método: Foram analisados os registros de 20 crianças de um mês a três anos de idade com perda auditiva neurossensorial de grau severo ou profundo bilateral e que foram submetidas ao PEAEE e ao potencial evocado auditivo de tronco encefálico frequência específica (PEATE-FE). Ambos realizados nas frequências de 500 Hz e 2000 Hz no equipamento Smart-EP Intelligent Hearing Systems®. Resultados: Houve diferença entre os exames quanto à ocorrência de resíduo auditivo, pois, um número significativo de indivíduos apresentou respostas ausentes no PEATE-FE e respostas presentes no PEAEE. Não ocorreu associação entre a presença de resíduo auditivo, o grau da perda e a idade da criança com o tipo de intervenção terapêutica. Conclusão: A presença de resíduo auditivo, a classificação do grau da perda e a idade da criança não influenciaram na conduta terapêutica final. (AU)

Introduction: Hearing impairment in children debilitates the acquisition and development of oral language, which can be minimized with diagnosis and confirmation of deafness in the first months of life. Auditory Steady State Evoked Potential (ASSEP) analysis stands out from others auditory evoked potentials due to the ease of recording, objectivity of the answers, stimulation of several frequencies simultaneously, in both ears, besides the identification of residual hearing. Purpose: Determine the contribution of the ASSEP for the therapeutic definition (election of cochlear implantation or hearing aid device) in hearing rehabilitation of children. Methods: The records of 20 children aged one month to three years with severe or profound bilateral neurosensory hearing loss, who were submitted to ASSEP and specific frequency brainstem auditory evoked potential (BAEP) analysis were analyzed. Both tests performed at frequencies of 500 Hz and 2000 Hz using the equipment Smart-EP Intelligent Hearing Systems®. Results: There was difference between the exams regarding the occurrence of residual hearing, since a significant number of individuals had absent responses on the BAEP and present responses on the ASSEP. There was no association between the presence of residual hearing, degree of hearing loss and the child's age with the type of therapeutic intervention. Conclusion: The presence of residual hearing, classification of the degree of loss and child's age exerted no influence on the final conduct. (AU)

Introducción: La deficiencia auditiva en niños hace daño a la adquisición y el desarrollo del lenguaje oral, que se puede minimizar con el diagnóstico y confirmación de la sordera en los primeros meses de vida. El Potencial Evocado de Estado Estable (PEAEE) se destaca de los demás potenciales evocados auditivos por la facilidad de registro, objetividad de las respuestas, estimulación de varias frecuencias simultáneamente, en ambos oídos, además de la identificación de audición residual. Objetivo: Verificar la contribución del PEAEE para la definición de las terapéuticas adoptadas (elección de implantación coclear o audífono) en la rehabilitación auditiva de niños. Método: Fueron analizados los registros de 20 niños de un mes a tres años de edad con pérdida auditiva sensorineural de grado severo o profundo bilateral y que fueron sometidas al PEAEE y al potencial evocado auditivo de tronco encefálico por frecuencia específica (PEATE-FE). Ambos se realizaron en las frecuencias de 500 Hz y 2000 Hz en el equipo Smart-EP Intelligent Hearing Systems®. Resultados: Hubo diferencia entre los exámenes con respecto a la ocurrencia de residuo auditivo, dado que, un número significativo de sujetos presentaron respuestas ausentes en PEATE-FE y respuestas presentes en PEAEE. No hubo asociación entre la presencia de residuo auditivo, el grado de pérdida y la edad del niño con el tipo de intervención terapéutica. Conclusión: La presencia de residuo auditivo, clasificación del grado de pérdida y edad del niño no influyeron en la conducta final. (AU)

Preliminary application of combined auditory monitoring technique in resection of vestibular neurinoma / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the value of electrically evoked auditory brainstem response (EABR) monitoring combined with brainstem auditory evoked potential (BAEP) and compound action potential (CAP) monitoring during vestibular schwannoma resection for the protection of the cochlear nerve. Methods: Clinical data from 12 patients with vestibular schwannomas who had useful hearing prior to surgery were analyzed at the PLA General Hospital from January to December 2021. Among them, there were 7 males and 5 females, ranging in age from 25 to 59 years. Before surgery, patients underwent audiology assessments (including pure tone audiometry, speech recognition rate, etc.), facial nerve function evaluation, and cranial MRI. They then underwent vestibular schwannoma resection via the retrosigmoid approach. EABR, BAEP, and CAP were simultaneously monitored during surgery, and patients' hearing preservation was observed and analyzed after surgery. Results: Prior to surgery, the average PTA threshold of the 12 patients ranged from11 to 49 dBHL, with a SDS of 80% to 100%. Six patients had grade A hearing, and six patients had grade B hearing. All 12 patients had House-Brackman grade I facial nerve function prior to surgery. The MRI indicated tumor diameters between 1.1 and 2.4 cm. Complete removal was achieved in 10/12 patients, while near-total removal was achieved in 2/12 patients. There were no serious complications at the one-month follow-up after surgery. At the three-month follow-up, all 12 patients had House-Brackman grade I or II facial nerve function. Under EABR with CAP and BAEP monitoring, successful preservation of the cochlear nerve was achieved in six of ten patients (2 with grade B hearing, 3 with grade C hearing, and 1 with grade D hearing). Successful preservation of the cochlear nerve was not achieved in another four patients (all with grade D hearing). In two patients, EABR monitoring was unsuccessful due to interference signals; however, Grade C or higher hearing was successfully preserved under BAEP and CAP monitoring. Conclusion: The application of EABR monitoring combined with BAEP and CAP monitoring during vestibular schwannoma resection can help improve postoperative preservation of the cochlear nerve and hearing.

Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and the copy number variations were validated by multiplex ligation-dependent probe amplification (MLPA) in the family members. Results: The hearing loss phenotype caused by OTOA variations ranged from mild to moderate in the low frequencies, and from moderate to severe in the high frequencies in the probands, which came from six sporadic pedigrees, among which a proband was diagnosed as congenital deafness and five were diagnosed as postlingual deafness. One proband carried homozygous variations and five probands carried compound heterozygous variations in OTOA gene. Nine pathogenic variations (six copy number variations, two deletion variations and one missense variation) and two variations with uncertain significance in OTOA were identified in total, including six copy number variations and five single nucleotide variants, and three of the five single nucleotide variants were firstly reported [c.1265G>T(p.Gly422Val),c.1534delG(p.Ala513Leufs*11) and c.3292C>T(p.Gln1098fs*)]. Conclusions: OTOA gene variations can lead to autosomal recessive nonsyndromic hearing loss. In this study, the hearing loss caused by OTOA defects mostly presents as bilateral, symmetrical, and postlingual, and that of a few presents as congenital. The pathogenic variations of OTOA gene are mainly copy number variations followed by deletion variations and missense variations.

Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree.@*METHODS@#A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4).@*CONCLUSION@#The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.

Clinical features and genetic analysis of a child with EAST/SeSAME syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.@*METHODS@#A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).@*CONCLUSION@#The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.

Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS).@*METHODS@#Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II.@*CONCLUSION@#By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.

A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.@*METHODS@#A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%).@*CONCLUSION@#Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.

Progress of research on the role of Atoh1 gene in the regeneration of mammalian auditory hair cells / 中华医学遗传学杂志

Atoh1 gene encodes a helix-loop-helix transcription factor which is involved in the generation and differentiation of mammalian auditory hair cells and supporting cells, and regulation of the proliferation of cochlear cells, therefore plays an important role in the pathogenesis and recovery of sensorineural deafness. This study reviews the progress of the Atoh1 gene in hair cell regeneration, with the aim of providing a reference for the study of hair cell regeneration gene therapy for sensorineural deafness.

Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant / 中华耳鼻咽喉头颈外科杂志

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.

Reclassification of flat type sudden deafness / 中华耳鼻咽喉头颈外科杂志

Objective: To reclassify the flat type sudden deafness according to the types of audiogram shape, and to explore the correlation between different pattern of hearing loss and prognosis. Methods: All of 1 024 patients with unilateral sudden deafness (492 males and 532 females, aged from 19 to 65 years, with an average age of 41.2 years old) admitted to 33 hospitals nationwide from August 2007 to October 2011 were divided into four types according to Chinese Guideline of Sudden Deafness(2015): low-frequency, high-frequency, flat and total deafness. Then, 402 patients with flat type sudden deafness were further divided into ascending type, descending type and consistent type according to the audiogram shapes. First, we compared the clinical characteristics and prognosis among these three subtypes of flat deafness, then compared the clinical characteristics and prognosis between ascending flat deafness and low-frequency deafness, descending flat deafness and high-frequency deafness, consistent flat deafness and total deafness, explored the factors related to the prognosis of flat deafness. SPSS 21.0 software, ANOVA, χ2 test, t-test and Logistic regression were used to analyze the data. Results: The cure rates of flat ascending, flat descending and flat consistent sudden deafness groups were 70.7%, 17.1% and 34.0% respectively, with a statistically significant difference (χ2=33.984, P<0.001); However, there was no significant difference in age, sex and affected side (all P>0.05). The independent related factors for the recovery of flat type sudden deafness were as follows: whether there was dizziness [OR=0.459; 95% confidence interval (CI): 0.271-0.777], the type of audiogram shape (OR=0.721; 95%CI: 0.530-0.981), and days from onset to therapy (OR=0.903, 95%CI: 0.835-0.978), all of which had P values<0.05. There was no significant difference in the cure rates between ascending flat sudden deafness and low-frequency descending sudden deafness, descending flat sudden deafness and high-frequency descending sudden deafness (all P>0.05). The pure tone average(PTA) of flat consistent sudden deafness and total deafness were (69.1±18.9) and (101.7±17.7) dB HL, respectively, with a statistically significant difference (t=20.890, P<0.001), and the cure rates were 34.0% and 14.5%, respectively, with a statistically significant difference (χ2=29.012, P<0.001). Conclusion: According to the audiogram shape, the flat type sudden deafness can be further divided into ascending flat sudden deafness, descending flat sudden deafness and consistent flat sudden deafness, which can more effectively evaluate the prognosis. The cure rate of ascending flat sudden deafness is similar to that of low-frequency sudden deafness, and the prognosis is well; The cure rate of descending flat sudden deafness is similar to that of high-frequency descending sudden deafness, and the prognosis is poor. The cure rate of consistent flat sudden deafness is higher than that of total deafness. PTA plays an important role in the prognosis of consistent flat sudden deafness and total deafness. Total deafness can be regarded as a single type of sudden deafness.

Association of glycemic index using HbA1c and sensorineural hearing loss in diabetes mellitus type 2 patients: A systematic review and meta-analysis

Objective@#To systematically review the available evidence on the association of HBA1c levels and development of sensorineural hearing loss and to quantitatively analyze the available data on HBA1c levels in patients with type 2 diabetes mellitus and sensorineural hearing loss to determine an HbA1c level that may be associated with the risk of having sensorineural hearing loss.@*Methods@#Design: Systematic Review and Meta-analysis Eligibility Criteria: Cross-sectional studies, or cohort studies which were limited to English language that investigated the correlation of glycemic index using HBA1c and sensorineural hearing loss among adult type 2 diabetic patients which were done from January 2010 to December 2021. Studies with no published outcome, incomplete data or that were ongoing as of August 1, 2022 were also excluded. Information Sources: MEDLINE (through PubMed), Cochrane Library, Scopus, Embase (through OVID@journal), Directory of Open Access Journals (DOAJ), Google Scholar and HERDIN Plus Risk of Bias: Risk of Bias was assessed using the Guidelines for Cochrane Collaboration Synthesis of Results: Results were presented using forest plots for representation.@*Results@#A total of 8 studies were reviewed with 2,103 participants in all. Six articles compared hearing loss incidence between diabetic and non-diabetic patients. Overall, there were a total of 881 diabetic patients and 1222 non-diabetic patients. There was a significantly lower incidence of sensorineural hearing loss in non-diabetic patients with a risk ratio of 1.89, 95% CI [1.65, 2.16]. Three articles compared the HbA1c levels of diabetic patients with or without sensorineural hearing loss. Diabetic patients without sensorineural hearing loss had significantly lower HbA1c levels compared to those with sensorineural hearing loss with mean difference of 1.04, 95%CI [0.82, 1.25].@*Conclusion@#In conclusion, this meta-analysis showed a higher prevalence rate of sensorineural hearing loss among patients with diabetes mellitus compared to non-diabetic patients. Moreover, poor glycemic control among diabetic patients with a glycemic index based on HbA1c of more than 8.3 (6.97-9.6) is associated with sensorineural hearing loss.

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.

Tamizaje auditivo universal neonatal en Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experiencia 2015-2021 / Universal newborn hearing screening at Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experience 2015-2021

Introducción: La hipoacusia congénita es una patología frecuente entre los recién nacidos con gran impacto en su calidad de vida si no es diagnosticada y tratada precozmente. Para su pesquisa, se recomienda, internacionalmente, el tamizaje auditivo universal neonatal (TAUN), que desde 2014 se aplica en el Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF). Objetivo: Describir la experiencia del programa de TAUN del Servicio de Otorrinolaringología HLF. Material y Método: Estudio descriptivo, retrospectivo. Se incluyó a todos los recién nacidos vivos (RNV) del establecimiento entre 2015 y 2021, evaluados de acuerdo con el protocolo del programa. Resultados: Fueron evaluados 17.804 RNV. Se obtuvo una cobertura de 97,1% y tasa de referencia de 0,98%. Se confirmaron a 21 pacientes con hipoacusia sensorioneural (HSN), obteniéndose una tasa de HSN de 1,5 cada 1.000 RNV. Conclusión: La tasa de incidencia de HSN congénita fue similar a la estimada a nivel mundial. El programa de TAUN HLF cumple con estándares internacionales en cuanto a cobertura, tiempo de evaluación del tamizaje y tasa de referencia. El trabajo multidisciplinario, mejoría de tecnología y registro adecuado de pacientes, son las principales fortalezas. La dificultad de seguimiento durante horario inhábil y presencia de sólo un profesional con dedicación exclusiva, son aspectos a perfeccionar.

Introduction: Congenital hearing loss is a frequent pathology among newborns with great impact on their quality of life if it is not diagnosed and treated early. The Joint Committee on Infant Hearing recommends universal newborn hearing screening (UNHS) and has been applied at the Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF) since 2014. Aim: To describe the experience of UNHS program at the Otolaryngology Service of the HLF. Material and Method: Descriptive, retrospective study, including all newborns of the HLF between 2015 and 2021. They were evaluated according to the protocol proposed in the program. Results: 17804 newborns were evaluated. Coverage of 97,1% and a referral rate of 0,98% were obtained. Twenty-one patients with sensorineural hearing loss (SNHL) were confirmed, obtaining a SNHL rate of 1.5 per 1000 live births. Conclusion: The incidence rate of congenital SNHL is similar to that estimated worldwide. The UNHS program in HLF complies with international standards in terms of coverage, timing and referral rates. Multidisciplinary work, improved technology and adequate patient registration are the main strengths of the program. The difficulty of follow-ups during the weekends and the presence of only one full-time professional are aspects that can be improved.

Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Efectos biológicos de la exposición a distintas concentraciones de oxígeno: desde la hipoxia hipobárica al oxígeno hiperbárico / Biological effects due to exposure to different concentrations of oxygen from hypo to hyperoxemia

The systemic effects of oxygen deficiency or excess are not thoroughly described. Knowledge is evolving towards the description of beneficial and detrimental effects of both extremes of partial pressure of oxygen (PaO2). The cellular and tissue mediators derived from the modulation of the oxidative tone and the production of reactive oxygen species (ROS) are widely characterized biochemically, but the pathophysiological characterization is lacking. Preclinical models support the use of hypobaric hypoxia preconditioning, based on its beneficial effects on ventricular function or its reduction in infarct size. A very important use of oxygen today is in commercial diving. However, novel clinical indications for oxygen such as the healing of diabetic foot ulcers and bone injury caused by radiotherapy are increasingly used. On the other hand, the modulation of the hypoxic response associated with exposure to high altitude environments (hypobaric), favors Chile and its highlands as a natural laboratory to determine certain cardiovascular, cerebral and metabolic responses in the resident population. Also, the consequences of the intermittent exposure to high altitudes in workers also deserves attention. This review discusses the physiopathological response to hypo and hyperoxemia, associated with environments with different oxygen concentrations, and brings back the concept of oxygen as a pharmacological mediator in extreme environments such as high altitudes and hyperbaric medicine in divers, decompression sickness, osteonecrosis associated with radiotherapy and sudden sensorineural hearing loss.

Evaluación neurológica durante el primer año en niños muy bajo peso al nacer con infección por citomegalovirus / Neurological evaluation during the first year in very low birth weight children with cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus es causa de pérdida auditiva y alteraciones cognitivas. La infección perinatal por este virus es más frecuente en neonatos< 1500 g y produce menos secuelas neurológicas. Objetivo: Describir la evaluación neurológica en el primer año de vida en niños muy bajo peso al nacer con infección por citomegalovirus. Métodos: Estudio descriptivo y longitudinal en el que se incuyeron 14 neonatos< 1500 g, con diagnóstico de infección congénita o perinatal por citomegalovirus; a los cuales se les realizó evaluación del neurodesarrollo, ultrasonido craneal, potenciales evocados auditivos de tallo cerebral y potenciales visuales a las 40 semanas, a los seis meses y al año de edad gestacional corregida. En la primera evaluación se realizó además, electroencefalograma. Resultados: El 43 por ciento tuvo infección congénita y 57 por ciento infección perinatal. A las 40 semanas se evaluaron completamente 79 % de los casos, a los seis meses 64 por ciento y al año 36 por ciento. No se observaron anormalidades en el ultrasonido craneal, ni en el electroencefalograma. Al año de edad corregida, se detectaron alteraciones ligeras del neurodesarrolo en 33,3 por ciento del total de casos (2/6) y con igual porcentaje en los niños con infección congénita (1/3) y perinatal (1/3). En ningún paciente evaluado se detectó sordera neurosensorial, ni daño del nervio visual. Conclusiones: Las alteraciones del neurodesarrollo encontradas al año de edad corregida pueden estar relacionadas con la prematuridad o la infección por citomegalovirus. El seguimiento a mediano y largo plazo es necesario para detectar otras secuelas neurológicas de debut tardío(AU)

Introduction: Congenital cytomegalovirus infection is a cause of hearing loss and cognitive impairments. Perinatal infection by this virus is more frequent in neonates< 1500 g and produces fewer neurological sequelae. Objective: To describe neurological evaluation in the first year of life in very low birth weight children with cytomegalovirus infection. Methods: A descriptive and longitudinal study involving 14 neonates< 1500 g, with a diagnosis of congenital or perinatal cytomegalovirus infection; to which neurodevelopmental evaluation, cranial ultrasound, auditory brain stem evoked potentials and visual potentials were performed at 40 weeks, six months and one year of corrected gestational age. In the first evaluation, electroencephalogram was also performed. Results: 43 percent had congenital infection and 57 percent perinatal infection. At 40 weeks, 79 percent of cases were fully evaluated, at six months 64 percent and at one year 36 percent. No abnormalities were observed on the cranial ultrasound or electroencephalogram. At one year of corrected age, slight alterations in neurodevelopment were detected in 33.3 percent of all cases (2/6) and with the same percentage in children with congenital (1/3) and perinatal (1/3) infection. In no patient evaluated, sensorineural deafness or visual nerve damage was detected. Conclusions: The neurodevelopmental alterations found at one year of corrected age may be related to prematurity or cytomegalovirus infection. Medium- and long-term follow-up is necessary to detect other late-onset neurological sequelae(AU)

Usos de cámara hiperbárica en otorrinolaringología / Uses for hyperbaric chambers in otolaryngology

Resumen En la terapia con oxígeno hiperbárico (HBO) se utiliza oxígeno al 100% de concentración en una cámara presurizada con presiones supraatmosféricas, que corresponden de 2 a 3 atmósferas. Los mecanismos por los cuales funciona esta terapia se relacionan con propiedades físicas de los gases y su comportamiento fisiológico en el organismo, lo que lleva finalmente a la hiperoxia, evento fisiológico que permite la obtención de diversos efectos beneficiosos. La evidencia en medicina ha demostrado su utilidad mayormente en la enfermedad por descompresión, infecciones cutáneas graves e intoxicación por monóxido de carbono. En el ámbito de la otorrinolaringología ha probado ser útil en algunas enfermedades como la hipoacusia súbita idiopática, tanto como terapia única como asociada al uso de corticosteroides, como en la osteomielitis refractaria del oído externo, la que en conjunto con antibioticoterapia y manejo quirúrgico presenta un evidente aumento en la tasa de mejoría. Cabe mencionar que la terapia con HBO ha demostrado también beneficios en los tratamientos y complicaciones posteriores a la radiación en pacientes con cáncer de cabeza y cuello. Es importante mencionar que la terapia con HBO no está exenta de riesgos y requiere que los pacientes cumplan con características específicas para su utilización, por lo que su indicación debe ser juiciosa y en casos seleccionados.

Abstract In hyperbaric oxygen therapy, 100% pure oxygen is used in a pressurized chamber with super atmospheric pressures which correspond to 2-3 atmospheres. The mechanism by which this treatment works is related to the physical properties of gases and their physiological behavior in the body, which leads to hyperoxia, the physiological event which allows for diverse beneficial health effects. The evidence in medicine has proven its utility mainly in decompression sickness, severe skin infections and carbon monoxide poisoning. In the otolaryngology field it has been proven useful in diseases like idiopathic sudden sensorineural hearing loss, both as the only treatment and as a concurrent treatment along with corticosteroids, in malignant otitis externa which in conjunction with antibiotic treatment and a surgical approach presents a clear increase in improvement rates. It must be mentioned that hyperbaric chamber treatment has also shown benefits in radiation treatment and post radiation complications in head and neck cancer patients. It is important to note that hyperbaric oxygen therapy is not without risks and patients must meet specific criteria for it to be applied, therefore it must be indicated using careful judgement and only in necessary cases.

Emissões otoacústicas evocadas na doença de Ménière / Otoacoustic emissions evoked in Ménière's disease

RESUMO Objetivo Verificar as respostas das emissões otoacústicas (EOA) evocadas por estímulo transiente e produto de distorção em indivíduos com doença de Ménière. Métodos Estudo transversal com casuística composta por 60 indivíduos de 19 a 75 anos de idade, distribuídos em dois grupos: grupo estudo, com 32 indivíduos com diagnóstico médico de doença de Ménière, sem outros riscos, e grupo controle formado por 28 indivíduos com perda coclear, sem doença de Ménière, pareado por idade e gênero ao grupo estudo. Critério de elegibilidade: curva tipo A, sem perda condutiva ou mista ou suspeita de alteração retrococlear. A avaliação audiológica foi composta por anamnese, inspeção do meato acústico externo, audiometria tonal limiar, logoaudiometria, medidas de imitância acústica e emissões otoacústicas evocadas por estímulo transiente e produto de distorção. Resultados Os indivíduos com Ménière apresentaram maior ocorrência de perda unilateral, zumbido pitch grave, vertigem e plenitude auricular em relação ao controle. Nesses indivíduos, houve maior incompatibilidade entre os resultados das EOA e da audiometria tonal: nas perdas unilaterais, observaram-se alterações nas EOA nas orelhas com limiares auditivos normais do lado contralateral, caracterizando disfunções cocleares. Nas orelhas com perda coclear, houve presença de EOAT (por estímulo transiente) e ausência de EOAPD (produto de distorção), contrapondo-se ao grupo controle, que apresentou ausência de EOAT e de EOAPD, como o esperado em perdas cocleares de outras etiologias. Conclusão A pesquisa das emissões na doença de Ménière identificou disfunção coclear na orelha contralateral nos casos unilaterais e presença de EOAT com ausência de EOAPD nas orelhas com perda auditiva, diferenciando-se das perdas cocleares de outras etiologias.

ABSTRACT Purpose To verify the responses of Evoked Otoacoustic Emissions by transient stimulus and distortion product in individuals with Ménière's Disease. Methods Cross-sectional study with a sample composed of 60 individuals, aged 19 to 75 years, divided into two groups: study group, with 32 individuals with a medical diagnosis of Ménière's disease, without other risks and a control group formed by 28 individuals with cochlear loss without Meniere's disease, age and sex matched to the study group. Eligibility criteria: type A curve, without conductive or mixed loss or suspected retrocochlear alteration. The audiological evaluation consisted of anamnesis, inspection of the external acoustic meatus, pure tone audiometry, logoaudiometry, measures of acoustic immittance and transient evoked otoacoustic emissions and distortion product. Results Individuals with Ménière's disease had a higher occurrence of unilateral hearing loss, low pitch tinnitus, vertigo and ear fullness in relation to the control. In these individuals, there was greater incompatibility between the results of OAE and pure tone audiometry: in unilateral hearing loss, alterations in OAE were observed in ears with normal hearing thresholds on the contralateral side, characterizing cochlear dysfunctions. In the ears with cochlear loss, there was the presence of TEOAE and absence of DPOAE, in contrast to the control group, which showed the absence of TEOAE and DPOAE, as expected in cochlear losses of other etiologies. Conclusion The investigation of emissions in Ménière's disease identified cochlear dysfunction in the contralateral ear in unilateral cases and the presence of TOAE with absence of DPOAE in ears with hearing loss, differentiating from cochlear losses of other etiologies.