Splicing mutations of GSDME cause late-onset non-syndromic hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone audiometry, acoustic immittance, speech recognition scores, auditory brainstem response, and distortion product otoacoustic emission, were applied to evaluate the hearing levels of patients. Combining with medical history and physical examination to analyze the phenotypic differences between the probands and their family members. Next-generation sequencing was used to identify pathogenic genes in probands, and validations were performed on their relatives by Sanger sequencing. Pathogenicity analysis was performed according to the American College of Medical Genetics and Genomics Guidelines. Meanwhile, the pathogenic mechanisms of GSDME-related hearing loss were explored combining with domestic and international research progress. Results:Among the six families with late-onset hearing loss, a total of 30 individuals performed hearing loss. The onset of hearing loss in these families ranged from 10 to 50 years（mean age: 27.88±9.74 years）. In the study, four splicing mutations of the GSDME were identified, including two novel variants: c. 991－7C>G and c. 1183+1G>T. Significantly, the c. 991－7C>G was a de novo variant. The others were previously reported variants: c. 991-1G>C and c. 991-15_991-13del, the latter was identified in three families. Genotype-phenotype correlation analysis revealed that probands with the c. 991－7C>G and c. 1183+1G>T performed a predominantly high-frequency hearing loss. The three families carrying the same mutation exhibited varying degrees of hearing loss, with an annual rate of hearing deterioration exceeding 0.94 dB HL/year. Furthermore, follow-up of interventions showed that four of six probands received intervention（66.67%）, but the results of intervention varied. Conclusion:The study analyzed six families with late-onset non-syndromic hearing loss linked to GSDME mutations, identifying four splicing variants. Notably, c. 991－7C>G is the first reported de novo variant of GSDME globally. Audiological analysis revealed that the age of onset generally exceeded 10 years,with variable effectiveness of interventions.

Genetic counseling for hearing loss today / 临床耳鼻咽喉头颈外科杂志

Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss, which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework. This paper described the main principles and contents of genetic counseling for hearing loss, the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment. The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced. Genetic counseling for hearing loss today embodies the hallmark of a new era, which is inseparable from the advancements in science and technology, and will undoubtedly contribute to precise gene intervention!

Profil audiométrique des surdités à Brazzaville / Audiometric pattern of deafness in Brazzaville

Introduction. La surdité est une perturbation auditive correspondant à la diminution ou la suppression de la capacité d'entendre le son. L'objectif de cette étude était de déterminer le profil audiométrique de la surdité à Brazzaville Méthodologie. Il s'agissait d'une étude transversale descriptive et rétrospective réalisée dans les services d'Oto-Rhino-Laryngologie et chirurgie cervico-facialedu CHU de Brazzaville et de l'hôpital de référence de Talangaï. L'étude s'est déroulée sur une période de 12 moisallant du 01 janvier2021 au 31 décembre 2021 et avait inclus les patients présentant une hypoacousie et /ou vertige périphérique et ayant réalisé une audiométrie tonale liminaire mettant en évidence une surdité. Résultats. Nous avons étudié360 dossiers depatients atteints de surdité. La moyenne d'âge était 24,6 ans avec une prédominance féminine (57%). Les étudiants et les élèves constituaient la classe professionnelle la plus retrouvée (47,2%). Le signe fonctionnel le plus représenté était l'hypoacousie bilatérale avec 88,6%. L'audiométrie tonale liminaire était dominée par la surdité de perception moyenne (41,6%).Conclusion. La surdité estun handicap auditif invalidantdont la prise en charge pourrait être améliorée par l'utilisation de l'audiométrie tonale.

Introduction.Deafness is an auditory disturbance corresponding to the decrease or suppression of the ability to hear sound. The objective of this study was to determine the audiometric profile of deafness in Brazzaville. Methodology. This was a descriptive and retrospective cross-sectional study conducted in the Oto-Rhino-Laryngology and Cervico-Facial Surgery departments of the University Hospital of Brazzaville and the Talangai reference hospital. The study took place over a period of 12 months from January 1, 2021, to December 31, 2021, and included patients with hearing loss and/or peripheral vertigo who underwent a pure-tone audiometry revealing deafness. Results.We studied 360 medical records of patients with deafness. The average age was 24.6 years with a female predominance (57%). Students and pupils constituted the most frequently encountered professional group (47.2%). Bilateral hearing loss was the most represented functional sign, accounting for 88.6%. Pure-tone audiometry was predominantly indicative of moderate sensorineural hearing loss (41.6%). Conclusion. Deafness is a disabling auditory handicap that could benefit from improved management through the use of pure-tone audiometry.

Creencias y prácticas para el cuidado de la salud de las personas sordas de Antioquia

Objetivo: Describir las creencias y prácticas para el cuidado de la salud de personas sordas de Antioquia, con el fin de identificar necesidades en educación para la salud de esta población. Metodología: estudio cualitativo, con técnicas etnográficas, enmarcado en una investigación acción participación Se condujeron 24 entrevistas semiestructuradas y 4 grupos focales con personas sordas, en encuentros mediados por un intérprete oficial de la lengua de señas colombiana, de los que se registró video y audio, para su posterior transcripción y análisis. Resultados: Emergieron denuncias relacionadas con la barrera lingüística que les impide conocer sobre el cuidado de la salud; también surgieron creencias y prácticas adquiridas en el hogar y con pares acerca la salud sexual y reproductiva, la salud mental y los estilos de vida. Los participantes manifestaron inquietudes y preocupaciones sobre el cuidado, la salud y la enfermedad, que no han sido abordadas con claridad y en su propia lengua. Conclusiones: Las personas sordas reclaman educación para el cuidado de la salud, de calidad y bajo un enfoque diferencial, que contribuya a su autonomía, autodeterminación y al goce efectivo del derecho a la salud.

Objective: To describe the beliefs and practices for health care of deaf people in Antioquia, in order to identify health education needs of this population. Methodology: qualitative study with ethnographic techniques framed in a participatory action research; 22 semi-structured interviews and 4 focus groups were conducted with deaf people, in meetings mediated by an official interpreter of the Colombian Sign Language, of which video and audio were recorded for later transcription and analysis. Results: Complaints related to the language barrier that prevents them from knowing about health care emerged; beliefs and practices acquired at home and with peers about sexual and reproductive health, mental health, and lifestyles. The participants expressed concerns about care, health and illness that have not been addressed clearly and in their own language. Conclusions: Deaf people demand quality health care education under a differential approach, which will contribute to their autonomy, self-determination and the effective enjoyment of the right to health.

Objetivo: Descrever as crenças e práticas de atenção à saúde de pessoas surdas em Antioquia, a fim de identificar as necessidades de educação em saúde dessa população. Metodologia: estudo qualitativo com técnicas etnográficas, enquadrado numa pesquisa-ação participante; Foram realizadas 22 entrevistas semiestruturadas e 4 grupos focais com pessoas surdas, em encontros mediados por um intérprete oficial da Língua de Sinais Colombiana, dos quais foram gravados vídeo e áudio para posterior transcrição e análise. Resultados: Emergiram queixas relacionadas à barreira da língua que os impede de saber sobre os cuidados de saúde; crenças e práticas adquiridas em casa e com colegas sobre saúde sexual e reprodutiva, saúde mental e estilos de vida. Os participantes expressaram preocupações e preocupações sobre cuidados, saúde e doença que não foram abordadas de forma clara e em sua própria linguagem. Conclusões: Os surdos demandam uma educação em saúde de qualidade sob um enfoque diferenciador, que contribua para sua autonomia, autodeterminação e gozo efetivo do direito à saúde.

Colesteatoma congénito: revisión de la literatura / Congenital cholesteatoma: literature review

El colesteatoma congénito es una entidad clínica única y desafiante, que se caracteriza por acumulación anormal de queratina en el oído medio, medial a la membrana timpánica. Se presenta, mayoritariamente, en el género masculino, con una incidencia estimada de 0.12 por 100.000 habitantes, representando el 4% a 24% de los colesteatomas en población pediátrica y un 2% a 5% del total de colesteatomas. Su origen aún es controversial, siendo la teoría más aceptada, la del arresto epitelial. Su diagnóstico es clínico, variando la sintomatología según severidad del compromiso, presentándose desde hallazgo incidental, hipoacusia de conducción, hasta presentar otalgia y perforación timpánica. Las imágenes se consideran un apoyo complementario preoperatorio. El tratamiento es quirúrgico, con diferentes técnicas disponibles, las cuales se deben definir de manera individual en el caso de cada paciente. Es fundamental su diagnóstico y manejo precoz, para lograr un tratamiento oportuno con menor tasa de complicaciones y compromiso a largo plazo. A continuación, se presenta una revisión de la literatura respecto de esta patología, para difusión en nuestro medio.

Congenital cholesteatoma (CC) is a unique and challenging clinical entity characterized by abnormal accumulation of keratin in the middle ear, medial to the tympanic membrane, being more frequent in the male gender, with an estimated incidence of 0.12 per 100,000 inhabitants. It represents 4% to 24% of cholesteatomas in the pediatric population and 2% to 5% of all cholesteatomas. Its cause is still controversial, the most accepted theory being epithelial arrest. The diagnosis is clinical, varying the symptoms according to the severity of the compromise, from incidental finding, through conduction hearing loss, to presenting otalgia and tympanic perforation. Images are considered additional preoperative support. Treatment is predominantly surgical, with different techniques available, which must be defined individually. Its early discovery and management are essential to achieve proper treatment with a lower rate of complications and long-term commitment. We present a review of the literature regarding CC to provide information relevant to our area of expertise.

Implantación coclear en pacientes de edad avanzada: Resultados auditivos / Cochlear implantation in elderly patients: Hearing results

Introducción: El envejecimiento de la población, así como la ampliación en las indicaciones de implantación, hace que cada día haya más pacientes implantados mayores de 65 años, lo que supone un reto a nivel de ajuste y optimización auditiva. Se ha constatado que la implantación coclear en pacientes de edad avanzada generalmente conduce a una mejoría, tanto auditiva como en la neurocognición, la depresión, el aislamiento social, la actividad física y la calidad de vida. Objetivo: Los objetivos de este estudio son valorar las características de los pacientes implantados a partir de 65 años en un centro terciario, analizar los beneficios e identificar particularidades clínicas en este grupo de pacientes. Material y Método: Se llevó a cabo un estudio retrospectivo con un seguimiento de 5 años postcirugía de pacientes con implante MED-EL y se realizó una visita preoperatoria y un seguimiento con audiometría en campo libre y audiometría verbales postquirúrgica al año, 3 años y 5 años postquirúrgico. Resultados: Se incluyó a 16 pacientes implantados unilateralmente. La edad media inicio pérdida fue de 36,75 años. La edad media de cirugía fue de 71,44 años. Los resultados auditivos fueron satisfactorios, con una media de audiometría en campo libre de 44,33 dB al año, 43,33 dB a los 3 años y 41,66 dB a los 5 años. El resultado en las audiometrías verbales (test de bisílabos y test de frases) fue mejor en el grupo de pacientes con adaptación bimodal. Conclusión: En nuestra experiencia, la implantación coclear en ≥65 años sí que logra mejorar las capacidades auditivas medidas, tanto en audiometría de campo libre como en pruebas verbales. La adaptación bimodal mejora los resultados auditivos, a pesar de la dificultad de procesamiento de los dos estímulos diferentes.

Introduction: The aging of the population, as well as the expansion in the indications for implantation means that every day there are more implanted patients over 65 years of age, which represents a challenge in terms of hearing adjustment and optimization. Cochlear implantation in elderly patients has been found to generally lead to improvements in hearing and neurocognition, depression, social isolation, physical activity, and quality of life. Aim: The objectives of this study are to assess the characteristics of patients over 65 years of age implanted in a tertiary center, analyze the benefits and identify clinical particularities in this group of patients. Material and Method: A retrospective study was carried out with a 5-year post-surgery follow-up of patients with a MED-EL implant, and a preoperative visit and follow-up with free-field audiometry and post-surgical speech audiometry were performed at one year, 3 years and 5 years post-surgery. Results: Sixteen unilaterally implanted patients were included. The mean age at onset of loss was 36.75 years. The mean age at surgery was 71.44 years. Hearing results were satisfactory, with a mean free field audiometry of 44.33 dB at one year, 43.33 dB at 3 years, and 41.66 dB at 5 years. The result in the verbal audiometries (disyllable test and sentence test) was better in the group of patients with bimodal adaptation. Conclusión: In our experience, cochlear implantation in patients ≥ 65 years of age does manage to improve hearing capacities measured both in free-field audiometry and in verbal tests. Bimodal adaptation improves auditory results, despite the difficulty ofprocessing the two different stimuli.

Instrumento de evaluación de la percepción de los contrastes mínimos en Lengua de Señas Chilena - evidencias de confiabilidad / Instrument to evaluate the perception of minimal contrasts in Chilean Sign Language - reliability evidence

RESUMEN Objetivo Obtener evidencias de confiabilidad de la prueba para evaluar la percepción de los contrastes mínimos en Lengua de Señas Chilena (LSCh). Método Participaron 10 niños y adolescentes Sordos con edades entre los 7 y 14 años, que fueron evaluados con la prueba de percepción de los contrastes mínimos en LSCh. En un primer momento se les aplicó la prueba, y entre 11 y 14 días después se les reaplicó nuevamente (confiabilidad test - retest). Para analizar los datos, fue realizada la correlación Rho de Spearman. Durante la primera aplicación se solicitó autorización a los padres de los niños y adolescentes para grabar las respuestas de los participantes para que otro evaluador pudiese repuntuar los protocolos, con el fin de obtener la confiabilidad interevaluador. Para el análisis de los datos se utilizó el cálculo estadístico first-order agreement coefficient (AC1) de Gwet. Resultados En la confiabilidad test - retest se obtuvo una correlación fuerte y significativa (Rho= 0,741; p=0,014). En la confiabilidad interevaluador, los valores de concordancia obtenidos varían entre 0,962 a 1 (p<0,001), indicando que la prueba presenta concordancia casi perfecta. Conclusión La prueba de percepción de pares de mínimos en LSCh presenta confiabilidad test - retest e interevaluador satisfactoria.

ABSTRACT Purpose Obtain evidence of the test reliability to evaluate the perception of minimum contrasts in Chilean Sign Language (LSCh). Methods Ten deaf children and adolescents aged between 7 and 14 years participated in this study. They were evaluated with the test of perception of minimal contrasts in LSCh. The test was reapplied 11 and 14 days after the first application (test-retest reliability). Spearman's Rho correlation was performed. During the first application, authorization was requested from the parents of the children and adolescents to record the responses of the participants so that another evaluator could re-score the protocols, in order to obtain inter-rater reliability. First-order agreement coefficient (AC1) Gwet's was used for data analysis. Results Test-retest obtained a strong and significant correlation (Rho= 0.741; p=0.014). The concordance values obtained inter-rater vary between 0.962 and 1 (p<0.001), indicating that the test presents almost perfect concordance. Conclusion The minimum pairs perception test in LSCh presents satisfactory test-retest and inter-rater reliability.

Contributions of musical approaches to the development of auditory, speech, and language skills of children and adolescents with cochlear implants: a scoping review / Contributos das abordagens musicais no desenvolvimento das habilidades auditivas, de fala e linguagem de crianças e adolescentes usuários de implante coclear: uma revisão de escopo

ABSTRACT Purpose: to map, through a scoping review, the contributions of musical approaches to developing auditory, speech, and language skills in children and adolescents using cochlear implants (CIs). Methods: a review conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses-Extension for Scoping Reviews (PRISMA-ScR) and registered in PROSPERO, under the review registration number CRD42020205581. A bibliographic search was carried out in databases in 2020 and updated in August 2023. No date or language limits were applied. Literature Review: altogether, 1,351 studies were found through the search strategy. After the eligibility assessment based on the PCC strategy, 11 studies were selected and analyzed in full text. Conclusion: the studies have demonstrated that musical approaches contribute to developing auditory, speech, and language skills in children and adolescents using CIs.

RESUMO Objetivo: mapear, por meio de uma revisão de escopo, os contributos das abordagens musicais para o desenvolvimento das habilidades auditivas, de fala e linguagem de crianças e adolescentes usuários de implante coclear (IC). Métodos: esta revisão foi conduzida de acordo com o Preferred Reporting Items for Systematic Reviews and the Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) e registrada no PROSPERO com o número de registro da revisão: CRD42020205581. Foi realizada uma busca bibliográfica nas bases de dados em 2020 e atualizada em agosto de 2023. Não foram aplicados limites de data e idioma. Revisão da Literatura: foram encontrados 1.351 estudos por meio da estratégia de busca e após a avaliação de elegibilidade baseada pela estratégia PCC, 11 estudos foram selecionados e analisados na íntegra. Conclusão: os estudos demonstraram que as abordagens musicais contribuem para o desenvolvimento das habilidades auditivas, de fala e linguagem de crianças e adolescentes usuários de IC.

Epidemiological characteristics and risk factors of occupational noise deafness in Nantong Area in 2017- 2021 / 公共卫生与预防医学

Objective To investigate the epidemiological characteristics of occupational noise induced deafness (ONID) in Nantong area and analyze the risk factors. Methods A total of 421 workers in hydropower industry who underwent physical examination in the outpatient clinic of Nantong Center for Disease Control and Prevention from January 2017 to December 2021 were selected as the research subjects.168 workers without ONID were divided into control group, and 253 workers diagnosed with ONID were divided into ONID group. The expression levels of serum cortisol, interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in the two groups were compared and analyzed. Results There were more males than females in both groups (P<0.05). With the increase of working age, the detection rate of ONID also increased significantly (P<0.05). The hearing thresholds of left and right ears in workers of different workplaces in the ONID group were higher than those in the control group (P<0.05), and the hearing thresholds of workers in water wheel room and water machine operation duty room were higher (P<0.05). The expression levels of cortisol, IL-6 and TNF-α in the serum of ONID patients were significantly higher than those in the control group. Multivariate analysis showed that workplace, serum cortisol, IL-6 and TNF-α were the main influencing factors for ONID. Conclusion Workplace, serum cortisol, IL-6 and TNF-α are all risk factors for ONID. Appropriate measures should be taken to strengthen the prevention and treatment of noise-induced hearing loss according to the influencing factors.

Analysis of combined screening results for hearing and deafness in 842 newborns in Dalian / 中国医师进修杂志

Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.

Repeated transcranial acupuncture combined with electroacupuncture for flat descending sudden deafness: a randomized controlled trial / 中国针灸

OBJECTIVE@#To observe the clinical effect of repeated transcranial acupuncture combined with electroacupuncture on flat descending sudden deafness.@*METHODS@#A total of 80 patients with flat descending sudden deafness were randomly divided into an acupuncture and medication group (39 cases, 1 case dropped off) and a western medication group (39 cases, 1 case dropped off). Patients in the western medication group were treated with glucocorticoid + batroxobin + ginkgo leaf preparation. On the basis of the western medication group, patients in the acupuncture and medication group were treated with acupuncture at Baihui (GV 20), Ningshen, Yunting area, Mastoid 1 point, Mastoid 2 point, Fengchi (GB 20), Gongxue, Tinghui (GB 2), etc., repeated transcranial acupuncture was applied at Baihui (GV 20), Ningshen and Yunting area; Mastoid 1 point and Mastoid 2 point, Fengchi (GB 20) and Gongxue of the affected side were connected to the electroacupuncture instrument, continuous wave, 2 Hz in frequency. The needle was retained for 30 min, once a day, and rest for 1 d after 6 d of continuous treatment. All patients were treated for 3 weeks. The average hearing threshold, tinnitus handicap inventory (THI) score, dizziness handicap inventory (DHI) score and speech discrimination test score were compared between the two groups before and after treatment, and the clinical effect was evaluated.@*RESULTS@#After treatment, the average hearing threshold, THI and DHI scores of the two groups were lower than those before treatment (P<0.05), and above indexes in the acupuncture and medication group were lower than those in the western medication group (P<0.05). The speech discrimination test scores of the two groups were higher than those before treatment (P<0.05), and the score in the acupuncture and medication group was higher than that in the western medication group (P<0.05). The total effective rate was 87.2% (34/39) in the acupuncture and medication group, which was higher than 74.4% (29/39) in the western medication group (P<0.05).@*CONCLUSION@#Repeated transcranial acupuncture combined with electroacupuncture can improve the hearing level of patients with flat descending sudden deafness, relieve tinnitus and vertigo symptoms.

Risk assessment of occupational noise-induced hearing loss in worker in a metal tool manufacturing enterprise / 中国职业医学

Objective To evaluate the risk of occupational noise-induced hearing loss in workers in a metal tool manufacturing enterprise, and to carry out risk classification and risk management. Methods A total of 91 male noise-exposed workers from a metal tool manufacturing enterprise in Hebei Province were selected as the research subjects using the convenience sampling method. The work site survey on occupational health and the measurement on individual noise exposure level were carried out. The ISO 1999：2013 (E) Acoustics-Estimation of Noise-Induced Hearing Loss was used to predict the risk of high frequency hearing loss (HFHL) and occupational noise-induced deafness (ONID). The risk classification and risk management were conducted using the WS/T 754-2016 Guideline for Risk Management of Occupational Noise Hazard (hereinafter referred to as WS/T 754-2016). Results The individual noise exposure intensity of workers in the six work sites of the enterprise, including blade workers, sheet punching workers, roller forging workers (hoe), hole punching workers, roller forging workers(shovels), and carpenters, exceeded the national occupational exposure limit, with the maximum volume of 91.2-104.1 dB(A). Among these workers, the positions of blade workers, sheet punching workers, and roller forging workers (hoe) were identified as critical control points for noise hazards in the enterprise. The detection rates of HFHL and ONID were 24.2% and 8.8%, respectively. The risk prediction results showed that, based on the actual noise exposure time and age of the study subjects, the risk of HFHL and ONID ranged from 1.7%-48.8% and 0.0%-29.5%, respectively. The risks of HFHL caused solely by occupational noise exposure when working up to 50.0, 55.0, and 60.0 years of age were 11.4% to 64.7%, 16.4% to 65.1%, and 17.2% to 59.4%, respectively. The risks of ONID caused solely by occupational noise exposure were 0.0% to 45.5%, 4.2% to 51.7%, and 5.9% to 57.4%, respectively. Except for the blade workers, the predicted median of potential noise-induced permanent threshold shifts (NIPTS) in the other five positions were lower than the actual values of NIPTS, with the difference ranging from 3.0-28.3 dB, and 73.3% of them underestimated by 10.0 dB or more. Conclusion The outcome of noise exposure on the hearing of workers in this enterprise are severe. Risk management should be conducted according to the WS/T 755-2016.

Intervention effects of bone conduction hearing aids in patients with single-sided deafness and asymmetric hearing loss / 临床耳鼻咽喉头颈外科杂志

The incidence of single-sided deafness（SSD） is increasing year by year. Due to the hearing defects of one ear, the ability of sound localization, speech recognition in noise, and quality of life of patients with single-sided deafness will be affected to varying degrees. This article reviews the intervention effects of different types of bone conduction hearing aids in patients with single-sided deafness and asymmetric hearing loss, and the differences of intervention effects between bone conduction hearing aids, contralateral routing of signal（CROS） aids, and cochlea implant（CI）, to provide a reference for the auditory intervention and clinical treatment of single-sided deafness and asymmetric hearing loss.

TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery / 临床耳鼻咽喉头颈外科杂志

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG（p. A451Gfs*43） and c. 4362_4366del（p. K1457Efs*12）, resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance（CAP） score was 6, and the Speech Intelligibility Rating（SIR） score was 4. Assessment using the Meaningful Auditory Integration Scale（MAIS） showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.

Conhecimento e comportamentos de pessoas surdas em relação às infecções sexualmente transmissíveis / Conocimiento y conductas de personas sordas en relación a las infecciones de transmisión sexual / Knowledge and behaviors of deaf people in relation to sexually transmitted infections

Objetivo: identificar o conhecimento e os comportamentos de risco para infecções sexualmente transmissíveis em pessoas surdas. Método: estudo transversal realizado com 110 pessoas surdas residentes no noroeste do Paraná, selecionadas com a técnica da bola de neve. Os dados foram coletados mediante instrumento estruturado e submetidos à análise estatística descritiva e inferencial (uso de regressão logística múltipla). Resultados: a maioria possuía pouca informação sobre as formas de transmissão e prevenção das infecções sexualmente transmissíveis (menos de 40% de acertos em relação a hepatite, a gonorreia e a sífilis, sendo que 20,9% já teve sintoma de infecção sexualmente transmissível). Nove dos 26 que tiveram relação sexual casual não usaram preservativo. Pessoas bilíngues bimodal apresentaram mais chance de conhecer formas de transmissão e prevenção das infecções sexualmente transmissíveis e ter comportamentos sexuais seguros. Considerações finais: os surdos em estudo demonstraram pouco conhecimento sobre as formas de transmissão e prevenção de infecções sexualmente transmissíveis, o que constitui desafio para os profissionais de saúde.

Objetivo: identificar los conocimientos y las conductas de riesgo en relación con las infecciones de transmisión sexual en personas sordas. Método: estudio transversal realizado con 110 personas sordas que viven en el noroeste do Paraná, seleccionadas mediante la técnica de la bola de nieve. Los datos se recolectaron mediante un instrumento estructurado y se los sometió a análisis estadístico descriptivo e inferencial (uso de regresión logística múltiple). Resultados: la mayoría poseía escasa información sobre las formas de transmisión y prevención de las infecciones de transmisión sexual (menos de 40% de respuestas correctas con respecto a hepatitis, gonorrea y sífilis, donde el 20,9% ya presentó algún síntoma de una infección de transmisión sexual). Nueve de los 26 participantes que tuvieron relaciones sexuales casuales utilizaron preservativos. Las personas bilingües bimodales presentaron mayor probabilidad de conocer formas de transmisión y prevención de las infecciones de transmisión sexual y de realizar conductas sexuales seguras. Consideraciones finales: las personas sordas incluidas en el estudio demostraron tener escasos conocimientos sobre las formas de transmisión y prevención de infecciones de transmisión sexual, lo que representa un desafío para los profesionales de la salud.

Objective: To identify the knowledge and risk behaviors for sexually transmitted infections among deaf people. Method: A cross-sectional study conducted with 110 deaf individuals living in northeastern Paraná, selected by means of the snowball technique. The data were collected by means of a structured instrument and submitted to descriptive and inferential analysis (use of multiple logistic regression). Results: Most of the participants had limited information on the transmission and prevention means for sexually transmitted infections (less than 40% of correct answers in relation to hepatitis, gonorrhea and syphilis; and 20.9% have already had symptoms of some sexually transmitted infection). Nine of the 26 subjects that had casual sexual relationships did not use condoms. Bimodal bilingual people presented more chances of knowing transmission and prevention means for sexually transmitted infections and of indulging in safe sex behaviors. Final considerations: the deaf people under study showed limited knowledge about the transmission and prevention means for sexually transmitted infections, which represents a challenge for health professionals.

Brazilian Society of Otology task force - Vestibular Schwannoma - evaluation and treatment

Abstract Objective: To review the literature on the diagnosis and treatment of vestibular schwannoma. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on vestibular schwannoma were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: (1) Diagnosis - audiologic, electrophysiologic tests, and imaging; (2) Treatment - wait and scan protocols, surgery, radiosurgery/radiotherapy, and systemic therapy. Conclusions: Decision making in VS treatment has become more challenging. MRI can diagnose increasingly smaller tumors, which has disastrous consequences for the patients and their families. It is important to develop an individualized approach for each case, which highly depends on the experience of each surgical team.

A Criança Surda como Sujeito do Olhar: Infância e Surdez nas Pesquisas em Educação / Deaf Child as a Subject of the Gaze: Childhood and Deafness in Education Research

RESUMO: O objetivo deste texto é debater como infância, criança, surdez e experiência visual têm se configurado como temas investigativos na Educação, detendo-se em uma análise sobre o olhar das crianças surdas e como sua experiência visual produz e é produzida pelo olhar. Realizou-se um levantamento bibliográfico no Banco de Theses e Dissertações da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Capes) e nos trabalhos aprovados nas reuniões nacionais da Associação Nacional de Pós-Graduação e Pesquisa em Educação (ANPEd) - GT Educação Especial, tendo como vetor decisivo pesquisas que tinham a infância e/ou a criança surda como temas centrais. Na análise das 23 pesquisas encontradas, verificaram-se três recorrências: a criança ou a infância surda como conceitos abrangentes, pouco abordados em suas singularidades; a experiência visual da criança surda assumida como secundária à aquisição, seja de outras linguagens (como, por exemplo, a escrita), seja da Língua Brasileira de Sinais (Libras), portanto, como experiência suplementar; o conceito de aprendizagem da criança surda vinculado à imagem como recurso didático. Com base nisso, percorreram-se pesquisas e trabalhos que rompem com essas recorrências e, assim, indicam caminhos para a construção de uma agenda de pesquisa sobre criança e infância surda.

ABSTRACT: The purpose of this text is to discuss how childhood, children, deafness and visual experience have been configured as research themes in Education, focusing on an analysis of the gaze of deaf children and how their visual experience produces and is produced by the gaze. A bibliographic review was carried out in the Theses and Dissertations Database of the Coordination for the Improvement of Higher Education Personnel (CAPES) and in the approved papers for the national meetings of the National Association of Research and Graduate Studies on Education (ANPEd) -Special Education Work Group), having as a decisive vector research that had childhood and/or deaf child as central themes. In the analysis of the 23 studies founded, three recurrences were verified: deaf child or childhood as general concepts, not assumed in their singularities; the visual experience of the deaf child assumed to be secondary to the acquisition, whether of other languages (such as writing), or the Brazilian Sign Language (LIBRAS), therefore, as a supplementary experience; the concept of learning for the deaf child linked to image as a didactic resource. Based on that, research and work that break with these recurrences have been investigated and thus indicate ways for the construction of a research agenda on children and deaf childhood.

Entrevista com a professora maura corcini lopes: a produção do ser surdo na experiência da educação / Interview with professor maura corcini lopes: the production of the deaf subject in the experience of education

RESUMO Ao longo da presente entrevista, a Professora Maura Corcini Lopes, da Universidade do Vale do Rio dos Sinos, desenvolve um conjunto de análises relativas à educação de surdos, a partir de uma retomada dos artigos publicados na Revista Brasileira de Educação Especial sobre a educação de surdos, ao longo das três décadas de existência desse periódico. Ela convida o leitor a refletir sobre os tipos de saberes produzidos sobre a surdez e as formas como os sujeitos com surdez foram sendo narrados nesse período. Ao voltar a olhar para os últimos 30 anos de proposição de políticas educacionais no Brasil, a Professora Maura problematiza os efeitos dessas políticas na organização de práticas escolares destinados aos alunos surdos e na forma como a sociedade se relaciona com a diferença, pós-políticas de inclusão.

ABSTRACT Throughout this interview, Professor Maura Corcini Lopes, from the Universidade do Vale do Rio dos Sinos, develops a range of analyzes related to the education of the deaf people, starting from a resumption of the articles published in the Revista Brasileira de Educação Especial on the education of the deaf, throughout the three decades of the existence of this journal. She invites the reader to reflect on the types of knowledge produced about deafness and the ways in which the subjects with deafness were being narrated during this period. When looking back at the last 30 years of proposing education policies in Brazil, Professor Maura problematizes the effects of these policies in the organization of school practices aimed at deaf students and the way in which the society relates to difference, after inclusion policies.

¿Basta con el habla? Evaluación del desarrollo del lenguaje en niños sordos prelocutivos durante los primeros seis años de vida. Una revisión sistemática / Is speech enough? Language development evaluation in the first 6 years of prelingually deaf children. A systematic review

RESUMEN Objetivo Sintetizar la información científica relevante sobre la evaluación del desarrollo del lenguaje en niños sordos prelocutivos durante los primeros seis años de vida, con el fin de determinar si es suficientes para confirmar la presencia de algún desarrollo de lenguaje en esta población, o si se requiere un enfoque más integral. Estrategia de investigación Se realizó una revisión estructurada de la literatura científica en las siguientes bases de datos: PubMed, Lilacs, Ibecs, Trip DataBase, Cochrane library, Clinical Trial y Nice. Criterios de selección revisiones sistemáticas, evaluaciones de tecnologías sanitarias, ensayos clínicos aleatorizados, estudios observacionales de cohorte y casos - controles; incluyendo publicaciones sobre evaluación de cualquier aspecto del desarrollo de lenguaje, cualquier intervención y en cualquier idioma, se excluyeron si únicamente evalúan audición o habla, sordera central, súbita, transitoria, sordoceguera, con otras discapacidades o con trastornos del espectro autista. Análisis de datos se usó la metodología GRADE para analizar la calidad de la evidencia. Resultados es factible realizar evaluaciones del desarrollo de lenguaje a niños sordos prelocutivos. Se obtiene una calidad de la evidencia moderada que sugiere cierta confianza en los resultados de las evaluaciones, siempre y cuando vengan acompañadas de una apreciación integral de otros elementos lingüísticos. Conclusión los resultados de las evaluaciones de lenguaje deben sostenerse, en mayor medida, en datos sobre el lenguaje receptivo y expresivo, y que cuyas evidencias pueden enriquecerse al adjuntar evaluaciones de elementos lingüísticos formales tanto de la modalidad oral como gestual, y de los componentes pragmáticos de los procesos comunicacionales.

ABSTRACT Purpose To synthesize the relevant scientific information regarding the assessment of language development in prelingually deaf children during their first six years of life, in order to determine whether it is sufficient to confirm the presence of some language development in this population, or if a more integrated approach would be more appropriate. Research strategies A structured review of the relevant scientific literature was carried out in the following databases: PubMed, Lilacs, Ibecs, Trip DataBase, Cochrane library, Clinical Trial and Nice. Selection criteria Systematic reviews, health technology assessments, randomized clinical trials, observational cohorts and case-control studies; including publications of assessments concerning any aspect of language development or any intervention in any language. Evaluations related exclusively to hearing and speech, to central, sudden or transient deafness, to deaf-blindness, to further disabilities or to autism spectrum disorders, were excluded. Data analysis GRADE methodology was used to analyze evidence quality. Results It is possible to evaluate the language development of prelingually deaf children. A moderate quality of evidence was obtained, suggesting that the evaluations' results are fairly trustworthy, provided that the assessments are conducted within an integrated approach of other linguistic elements. Conclusion The results of the language evaluations must be supported mostly by receptive and expressive language data, and the found evidence can be improved by combining the assessments of the formal linguistic elements of both oral and gestural modalities with the pragmatic components of the communication process.