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.

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.

Satisfaction and quality of life in cochlear implant users with long sensory deprivation / Satisfação e qualidade de vida em usuários de implante coclear com longo tempo de privação sensorial

ABSTRACT Purpose The aim of the study was to verify the level of satisfaction of CI users with long periods of hearing deprivation, highlighting the positive and negative aspects of the use of the device and their quality of life. Methods This is a analytical research, of the type observational cross-sectional study. The study was performed with 24 patients from a private Institute of Otorhinolaryngology. Three surveys were applied: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory - Cochlear Implant (IOI - CI) to assess cochlear implant satisfaction and WHOQOL- bref to assess the quality of life. The results in the pre and post lingual groups were compared. Results The highest degree of satisfaction was reported with regard to personal image, positive effects, and how the users feel about their CI. The lowest degree of satisfaction was reported regarding the cost-benefit of the CI and the competitive noise. In the WHOQOL-bref assessment, the highest scores were found in physical, psychological and social relations domains. When comparing the results of the surveys, the pre and post-lingual groups showed no difference in relation to the achieved scores. Conclusion The participants had a high level of satisfaction with the use of cochlear implants. The longer the sensory deprivation time, the greater the degree of satisfaction with the device. The use of the CI electronic device reflects on the individual's quality of life.

RESUMO Objetivo Verificar o nível de satisfação de usuários de IC com longos períodos de privação auditiva, destacando os aspectos positivos e negativos do uso do dispositivo e avaliar a qualidade de vida desses indivíduos. Método Trata-se de uma pesquisa analítica, do tipo estudo observacional transversal. O estudo foi realizado com 24 pacientes de um instituto privado de Otorrinolaringologia. Foram aplicados três questionários: Satisfaction with Amplification in Daily Life (SADL), International Outcome Inventory- Implante Coclear (IOI - IC) para avaliar a satisfação com o implante coclear e WHOQOL-bref para avaliar a qualidade de vida. Os resultados nos grupos pré e pós-lingual foram comparados. Resultados O maior grau de satisfação foi relatado em relação à imagem pessoal, efeitos positivos e como os usuários se sentem em relação ao seu IC. O menor grau de satisfação ocorreu em relação ao custo-benefício do IC e ao ruído competitivo. Na avaliação do WHOQOL-bref, os maiores escores foram encontrados nos domínios físico, psicológico e relações sociais. Os grupos pré e pós-lingual não apresentaram diferença em relação aos escores alcançados. Conclusão Os participantes apresentaram alto nível de satisfação com o uso do implante coclear. Quanto maior o tempo de privação sensorial maior o grau de satisfação com o dispositivo. O uso do dispositivo eletrônico de IC reflete melhora na qualidade de vida do indivíduo.

Townes-Brocks syndrome caused by de novo mutation in spalt-like transcription factor 1 gene: a case report and literature review / 中华围产医学杂志

Objective:To summarize the clinical features and gene variations in children with Townes-Brocks syndrome (TBS).Methods:The clinical data of a female infant diagnosed with TBS caused by human spalt-like transcription factor 1 ( SALL1) gene mutation in Gansu Maternal and Child Health Hospital in May 2022 were analyzed retrospectively. Relevant articles up to July 2022 were retrieved from several databases including CNKI, VIP, Wanfang, Chinese Medical Journal Network and PubMed with the terms of " SALL1 gene" and "Townes-Brocks syndrome". Patients diagnosed with TBS caused by SALL1 gene mutation were retrieved and the clinical phenotype-genotype correlations in patients with TBS caused by frameshift mutation in SALL1 gene were analyzed and summarized. Descriptive statistical analysis was applied. Results:(1) Clinical data: The index patient was a 40-day-old girl exhibiting major clinical manifestations of polycystic kidney dysplasia, congenital external ear deformity, preaxial polydactyly and recto-perineal fistula. Whole exome sequencing and Sanger sequencing revealed a heterozygous variation of c.420delC (p.S141fs*42) in the SALL1 gene, while the same gene was found to be wild type in her parents and sister. The variant was predicted to be pathogenic (PVS1+PS2+PM2). (2) Literature review retrieved 161 cases of TBS, of which 71 were attributable to a frameshift mutation in SALL1 gene. Clinical phenotypes of the 71 cases and the index case were summarized. TBS was mainly characterized by external ear, hand and anal deformities, sometimes accompanied by hearing loss, abnormal kidney development and foot deformity. A small number of affected cases presented with rare clinical phenotypes such as abnormal eyes, hypothyroidism and abnormal development. At present, the human gene mutation database records 110 variations in the SALL1 gene, with a majority located in exon 2. The most common mutation type was frameshift variation, accounting for 52%, followed by missense variation and nonsense variation. Conclusion:TBS should be considered in children with ear, hand and anal malformations, accompanied by renal dysfunction and hearing loss, and genetic testing is recommended for timely diagnosis.

Efficacy of intratympanic injection versus intravenous drip of prednisolone acetate in the treatment of sudden hearing loss / 中国基层医药

Objective:To investigate the efficacy of intratympanic injection versus intravenous drip of prednisolone acetate in the treatment of sudden hearing loss. Methods:A total of 120 patients with sudden hearing loss who received treatment in the Department of Otolaryngology, Mingzhou Hospital between January 2017 and January 2020 were included in this study. They were divided into intratympanic injection group (intratympanic injection of prednisolone acetate, n = 60) and intravenous injection group (intravenous injection of prednisolone acetate, n = 60) according to route of drug administration. After 8 days of treatment, clinical efficacy was compared between the two groups. The hearing thresholds at 500 Hz and 1 000 Hz in both groups were detected using pure tone audiometry. The levels of procalcitonin and high-sensitivity C-reactive protein and adverse drug reactions were compared between the two groups. Results:After treatment, total response rate in the intratympanic injection group was significantly higher than that in the intravenous injection group (93.33% vs. 80.00%, χ2 = 4.61, P < 0.05). The hearing threshold at 500 Hz in the intratympanic injection group was significantly lower than that in the intravenous injection group [(38.69 ± 3.56) vs. (42.36 ± 4.36), t = 5.05, P < 0.001). The hearing threshold at 1 000 Hz in the intratympanic injection group was significantly lower than that in the intravenous injection group [(32.36 ± 3.36) vs. (40.15 ± 4.12), t = 11.35, P < 0.001). After treatment, procalcitonin level in the intratympanic injection group was significantly lower than that in the intravenous injection group [(0.65 ± 0.12) μg/L vs. (0.98 ± 0.15) μg/L, t = 13.30, P < 0.001)]. High-sensitivity C-reactive protein level in the intratympanic injection group was significantly lower than that in the intravenous injection group [(3.28 ± 0.36) mg/L vs. (5.26 ± 0.56) mg/L, t = 23.03, P < 0.001]. There was no significant difference in incidence of adverse reactions between intratympanic injection and intravenous injection groups (8.33% vs. 10.00%, χ2 = 0.10, P > 0.05). Conclusion:Compared with intravenous drip of prednisolone acetate, intratympanic injection of prednisolone acetate can improve the clinical symptoms of patients with sudden hearing loss and enhance clinical efficacy.

Chanarin-Dorfman syndrome: the first case reported in China / 中华皮肤科杂志

Objective:To detect gene mutations and make a diagnosis in a family with ichthyosis accompanied by liver injury.Methods:Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples from the proband and his parents. Exome sequencing was performed in the proband by using a gene panel targeting hereditary skin diseases to identify mutation sites, and then the candidate mutation site was verified by PCR and Sanger sequencing in the family members. Results of peripheral blood smear examination and other auxiliary examinations were collected from the proband and his parents and analyzed.Results:The proband presented with generalized dry skin and tiny white scales on the lower limbs, accompanied by elevated transaminase levels, mild sensorineural hearing loss in both ears and fatty liver. Exome sequencing revealed a homozygous mutation c.933dupA in exon 6 of the ABHD5 gene encoding CGI-58 protein in the peripheral blood genomic DNA of the proband, resulting in a frameshift mutation p.R312Tfs*45 in the amino acid sequence. Heterozygous mutations at this site were identified in his father and mother. The mutation cosegregated with the disease phenotype in the family. The peripheral blood smear examination of the proband showed lipid vacuoles in neutrophils, which were called Jordan anomaly. Conclusion:The diagnosis of Chanarin-Dorfman syndrome was made in the proband based on the presentation of ichthyosis-like skin lesions and abnormal liver function, as well as the homozygous mutation in the ABHD5 gene and Jordan anomaly in peripheral blood smears.

Sudden sensorineural hearing loss and ischemic stroke / 国际脑血管病杂志

Sudden sensorineural hearing loss (SSNHL) refers to the sudden and unexplained sensorineural hearing loss within 72 h and a decrease in hearing of ≥30 dB affecting at least 3 consecutive frequencies. It is one of the common emergencies in neurology and otolaryngology. Early etiological evaluation and systematic and targeted treatment are very important for delaying the progression of SSNHL and restoring hearing. Recent studies have shown that SSNHL overlaps with vascular risk factors of ischemic stroke, and may predict the risk of ischemic stroke. SSNHL may be one of the clinical manifestation and even the prodromal symptoms of ischemic stroke, especially the infarction of the blood supply area of the anterior inferior cerebellar artery or its branch internal auditory artery. Although these factors can not fully reveal the relationship between SSNHL and ischemic stroke, they are enough to warn clinicians that they should consider the possibility of ischemic stroke when receiving patients with SSNHL. Screening of vascular risk factors for patients with SSNHL as early as possible is helpful to avoid the risk of recurrence of ischemic stroke.

Rehabilitación auditiva y comprensión de textos, un reto en los niños sordos con implante coclear / Hearing rehabilitation and reading understanding: a challenge for deaf children with cochlear implants

RESUMEN Introducción: los niños con sordera severa y profunda reclaman de una rehabilitación auditiva y lingüística muy particular, desde entornos inclusivos que les permita tener acceso a todos los sonidos del medio, esto incluye el habla y la mejora de sus habilidades comunicativas para la comprensión y expresión del lenguaje. Objetivo: valorar la efectividad de un cuaderno de actividades dirigido a la rehabilitación auditiva y la comprensión de textos en niños sordos con implante coclear del municipio Pinar del Río. Métodos: se realizó un estudio de corte pedagógico, con el análisis de contenido, la observación científica, entrevista, estadística descriptiva y batería de exploración del lenguaje de los deficientes auditivos, en una muestra de cinco niños sordos con implante coclear, cinco logopedas y seis maestros de las escuelas primarias, en el período del 2017 hasta el 2018. Resultados: como una posible respuesta a las insuficiencias que presentaron los niños en el proceso de rehabilitación auditiva y comprensión de textos, se elaboró un cuaderno de actividades como vía para el desarrollo de la lectura y construcción de significados, con una visión integradora de la lengua española escrita y múltiples posibilidades de aplicación en la atención logopédica integral. Conclusiones: la utilización del cuaderno de actividades constató su valor teórico, metodológico y práctico, al confirmar niveles superiores en el desarrollo de la rehabilitación auditiva y la comprensión de textos en los niños sordos con implante coclear del municipio Pinar del Río.

ABSTRACT Introduction: children with severe and deep deafness demand a particular hearing and linguistic rehabilitation, from inclusive environments, allowing them to have access to all the sounds of the environment, including speech and the development of their communication skills for the understanding and expression of language. Objective: to assess the effectiveness of a notebook of activities aimed at hearing rehabilitation and reading understanding in deaf children with cochlear implants in Pinar del Río municipality. Methods: a pedagogical study was carried out, using the analysis of contents, scientific observation, interview, descriptive statistics and the series of language exploration for the hearing impaired, in a sample of 5 deaf children with cochlear implant, 5 speech therapists and 6 primary school teachers, during 2017 to 2018. Results: as a possible solution to the deficiencies the children presented in the process of hearing rehabilitation and reading understanding, a notebook of activities was created as a way to develop reading and concept of meanings, with a complete vision of the written Spanish language and multiple possibilities of application in the comprehensive speech therapy care. Conclusions: the use of the notebook of activities proved its theoretical, methodological and practical values, confirming higher levels in the development of hearing rehabilitation and reading understanding in deaf children with cochlear implant in Pinar del Río municipality.

Perda auditiva unilateral e assimétrica na infância / Unilateral and asymmetric hearing loss in childhood

RESUMO Objetivo Descrever a perda auditiva sensorioneural unilateral e bilateral assimétrica em crianças quanto às características etiológicas, audiológicas e demográficas. Método Estudo retrospectivo transversal, desenvolvido na Seção de Implante Coclear do Hospital de Reabilitação de Anomalias Craniofaciais, por meio da análise de prontuários. Resultados Foram analisados os dados de 1152 pacientes, sendo 424 (37%) adolescentes, adultos ou idosos e 728 (63%) crianças, dentre as quais, 691 (95%) apresentavam perda auditiva bilateral simétrica e 37 (5%) perda auditiva sensorioneural unilateral (n=10) ou bilateral assimétrica (n=27). A idade média ao diagnóstico na perda auditiva sensorioneural unilateral foi de 33,58±21,69 meses e na bilateral assimétrica de 33,12±21,69 meses, com prevalência de 1,4% e 3,7%, respectivamente. O indicador de risco para a deficiência auditiva de maior ocorrência para ambos os grupos foi o de antecedente familiar. A maioria dos familiares das crianças com perda auditiva sensorioneural unilateral apresentaram a classificação socioeconômica baixa superior (50%), enquanto que as crianças com perda auditiva sensorioneural bilateral assimétrica se subdividiram igualmente em baixa superior (37%) e média inferior (37%). Conclusão Houve uma maior prevalência da perda auditiva sensorioneural bilateral assimétrica em relação à unilateral, bem como do indicador de risco de hereditariedade, com predomínio do grau profundo na pior orelha e preponderância do sexo feminino, em ambos os grupos. Apesar de a triagem auditiva neonatal propiciar a identificação precoce da perda auditiva sensorioneural unilateral, a idade no diagnóstico audiológico ainda se encontra acima do recomendado. Adicionalmente, a maioria dos familiares das crianças apresentou nível de rendimento baixo.

ABSTRACT Purpose To describe unilateral and bilateral asymmetric sensorineural hearing loss in children and its etiological, audiological and demographic characteristics. Methods Retrospective cross-sectional study developed in the Seção de Implante Coclear of Hospital de Reabilitação de Anomalias Craniofaciais, through the analysis of medical records. Results Data from 1152 patients were analyzed: 424 (37%) adolescents, adults or elderly, and 728 (63%) children, of whom 691 (95%) had bilateral symmetrical hearing loss, and 37 (5%) had unilateral hearing loss (n=10) or bilateral asymmetric (n=27) sensorineural hearing loss. The mean age at diagnosis of unilateral sensorineural hearing loss was 33.58±21.69 months, and for asymmetric bilateral it was 33.12±21.69 months, with a prevalence of 1.4% and 3.7%, respectively. The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began in childhood. The majority of the relatives of children with unilateral sensorineural hearing loss presented the highest low socioeconomic classification (50%), while children with bilateral asymmetric sensorineural hearing loss were also be subdivided into upper (37%) and lower (37%). Conclusion We observed a greater occurrence of asymmetric bilateral sensorineural hearing loss compared to unilateral hearing loss, as well as the hereditary risk indicator, with a predominance of the deep ear and female preponderance in both groups. Although neonatal hearing screening provides early identification of unilateral sensorineural hearing loss, the age at the audiological diagnosis is still above the recommended level. In addition, the majority of the children's family members presented a low level of income.

Diagnosis and outcome analysis of diseases characterized by recurrent low-frequency sensorineural deafness / 临床耳鼻咽喉头颈外科杂志

The aim of this study was to explore the clinical features, hearing prognosis and differential diagnosis of recurrent low frequency sensorineural hearing loss （RLFD） . The clinical characteristics, clinical manifestations, audiological examination and auxiliary examination of RLFD patients were retrospectively analyzed. We summarized clinical features, draw the pure tone audiometry curves, and analyze the diagnosis of RLFD. Forty-seven patients （53 ears） with RLFD had a hearing review time of 1-124 months. The course of disease ranged from 3 to 320 months with an average course of 29 months. ①The incidence of tinnitus in the accompanying symptoms was 93.6%（44 cases）, and the ear suffocation was 83.0%（39 cases）, 38.3% （18 cases） of the patients developed vestibular symptoms during the course of the disease. ②During the observation period, 27 cases（57.4%） were diagnosed with related diseases: 7 cases（14.9%） Meniere's disease, 6 cases（12.8%） vestibular migraine, 2 cases（4.3%） with Meniere's disease and migraine, and 1 case（2.1%） with idiopathic intracranial hypotension 11 cases（23.4%） were possible cochlear migraine; ③Migraine-related RLFD had a younger onset age, more common in women; ④83.0%（44 ears）of the affected ears had stable or improved low-frequency hearing during the observation period, 17.0%（9 ears）of the affected ears experienced low-frequency hearing; ⑤18.9%（10 ears）of the affected ears had high-frequency hearing loss; ⑥RLFD had 6 types of audiological outcomes: low-frequency improvement combined with high-frequency stability; low-frequency stability combined with high-frequency stability; low frequency progress combined with high frequency stability type; low frequency improvement combined with high frequency progress type; low frequency stability combined with high frequency progress type; low frequency progress combined with high frequency progress type; ⑦Rising type hearing curve low frequency hearing prognosis is good, mountain type and descending low frequency hearing prognosis is poor. Tinnitus and ear stuffiness are the early symptoms and the most disturbing symptoms in patients with RLFD. The mechanism of Migraine may play an important role in the pathogenesis of RLFD. The rare causes such as intracranial hypotension syndrome should not be ignored. Most of the patients with RLFD had stable or improved hearing after long-term fluctuation, but some patients with low or high frequency hearing might decline. The type of initial hearing curve was a prognostic factor. Long-term hearing follow-up is helpful for prognosis evaluation.

Diagnosis and outcome analysis of diseases characterized by recurrent low-frequency sensorineural deafness / 临床耳鼻咽喉头颈外科杂志

Objective@#The aim of this study was to explore the clinical features, hearing prognosis and differential diagnosis of recurrent low frequency sensorineural hearing loss （RLFD） . @*Method@#The clinical characteristics, clinical manifestations, audiological examination and auxiliary examination of RLFD patients were retrospectively analyzed. We summarized clinical features, draw the pure tone audiometry curves, and analyze the diagnosis of RLFD. @*Result@#Forty-seven patients （53 ears） with RLFD had a hearing review time of 1-124 months. The course of disease ranged from 3 to 320 months with an average course of 29 months. ①The incidence of tinnitus in the accompanying symptoms was 93.6%（44 cases）, and the ear suffocation was 83.0%（39 cases）, 38.3% （18 cases） of the patients developed vestibular symptoms during the course of the disease. ②During the observation period, 27 cases（57.4%） were diagnosed with related diseases: 7 cases（14.9%） Meniere's disease, 6 cases（12.8%） vestibular migraine, 2 cases（4.3%） with Meniere's disease and migraine, and 1 case（2.1%） with idiopathic intracranial hypotension 11 cases（23.4%） were possible cochlear migraine; ③Migraine-related RLFD had a younger onset age, more common in women; ④83.0%（44 ears）of the affected ears had stable or improved low-frequency hearing during the observation period, 17.0%（9 ears）of the affected ears experienced low-frequency hearing; ⑤18.9%（10 ears）of the affected ears had high-frequency hearing loss; ⑥RLFD had 6 types of audiological outcomes: low-frequency improvement combined with high-frequency stability; low-frequency stability combined with high-frequency stability; low frequency progress combined with high frequency stability type; low frequency improvement combined with high frequency progress type; low frequency stability combined with high frequency progress type; low frequency progress combined with high frequency progress type; ⑦Rising type hearing curve low frequency hearing prognosis is good, mountain type and descending low frequency hearing prognosis is poor. @*Conclusion@#Tinnitus and ear stuffiness are the early symptoms and the most disturbing symptoms in patients with RLFD. The mechanism of Migraine may play an important role in the pathogenesis of RLFD. The rare causes such as intracranial hypotension syndrome should not be ignored. Most of the patients with RLFD had stable or improved hearing after long-term fluctuation, but some patients with low or high frequency hearing might decline. The type of initial hearing curve was a prognostic factor. Long-term hearing follow-up is helpful for prognosis evaluation.

Application of the real-time fluorescence PCR melting curve method in gene screening of non-syndromic hearing loss / 中华耳鼻咽喉头颈外科杂志

Objective@#To detect 20 common deafness gene mutations in non-syndromic hearing loss patients in China using the melting curve method, and analyze and summarize the mutation data to explore the clinical value of this method.@*Methods@#The real-time fluorescence PCR melting curve method was used to detect 20 common mutations of four deafness genes(GJB2,GJB3,SLC26A4 and mtDNA) in 492 patients with non-syndromic hearing loss recruited between March 2014 and September 2016 from the Otolaryngology Department of Xiangya Hospital, Central South University(283 males and 209 females, the age ranged from 1 to 48 years old). The Sanger sequencing method was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by the real-time fluorescence PCR melting curve method.@*Results@#A total of 492 samples were detected. 193 wild-type samples, 93 homozygous mutant samples, 145 heterozygous mutant samples, 59 composite heterozygous mutant samples and 2 samples with unknown mutations were detected using the real-time fluorescence PCR melting curve method within the range of 20 gene mutations, whichwere identical to the Sanger sequencing results.The two samples were detected as unknown mutations by the real-time fluorescent PCR melting curve method were confirmed by Sanger sequencing, including a composite heterozygous mutant sample and a homogenous mutation sample. GJB2 c.235delC and SLC26A4 c.919-2 A>G were the most common hotspot mutations in this study, followed by mtDNA m.1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real-time fluorescence PCR melting curve method were 100%, the Youden′s index was 1.0, and the Kappa value was 1.@*Conclusions@#The real-time fluorescence PCR melting curve method is suitable for the detection of deafness gene mutations. It has the advantages in terms of simple, rapid, high sensitivity and strong specificity and can accurately detect the 20 gene mutations of 4 common deafness genes in Chinese population, which is expected to be used for the clinical detection of deafness genes in the future.

Feasibility of constructing a unilateral sudden sensorineural hearing loss machine learning classification model based on diffusion tensor imaging / 中华放射学杂志

Objective@#To explore the feasibility of constructing a machine learning classification model for unilateral sudden sensorineural hearing loss (SSHL) patients and normal controls based on diffusion tensor imaging.@*Methods@#Prospective collection of 84 patients with untreated SSHL were recruited from the otolaryngology department of the Union Hospital of Tongji Medical College of Huazhong University of Science and Technology between June 2013 to May 2015 as the SSHL group. Meanwhile, a total of 63 healthy volunteers who were no any ear disease history, and the hearing function were confirmed with pure tone audiometry, were collected as the control group. All subjects underwent a brain DTI scan. The data were divided into the training set and validation set according to the ratio of 7 to 3, that was, the training set contained 58 cases of SSHL patients and 44 control groups, and the validation set included 26 cases of SSHL patients and 19 control groups. A vector which included the DTI parameters such as fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity was constructed with the software R. The LASSO regression of machine learning method was used to perform feature dimensionality reduction and construct a classification model. The training set samples were used to map the nomogram based on the multivariate logistic analysis method, the validation set and the AUC were used to evaluate the prediction ability of the nomogram, and the calibration curve was used to evaluate the model.@*Results@#From the 200 feature vectors including the fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values of each brain region, after each dimension reduction process, a total of six features were retained, which were the MD of left superior corona radiate and right superior fronto-occipital fasciculus, the AD of the body of corpus callosum, and the RD of left inferior cerebellar peduncle, left superior corona radiate and right posterior limb of internal capsule. The six features of patients with unilateral SSHL were higher than the control group, and the difference was statistically significant (P<0.05). Based on this, a two-class model is constructed and a nomogram is drawn. The sensitivity, specificity, accuracy and AUC of the training set were 93.1% (54/58), 72.7% (32/44), 84.3% (86/102) and 0.854, respectively; the sensitivity, specificity, accuracy and AUC of validation set were 80.8% (21/26), 84.2% (16/19), 82.2% (37/45), 0.870, respectively. Nomogram could significantly improve the classification efficiency of the control group and patients, and the model with the LASSO method showed a higher prediction curve than other models.@*Conclusions@#The machine learning classification model based on DTI metrics can effectively distinguish patients with unilateral sudden sensorineural deafness from healthy control people.

Analysis of the correlation between radiological and audiological features of patients with enlarged vestibular aqueduct / 中华耳鼻咽喉头颈外科杂志

Objective@#The radiological and audiological results of patients with hearing loss associated with enlarged vestibular aqueduct (EVA) were analyzed statistically to explore the association between them.@*Methods@#In this retrospective study, we screened 64 patients (128 ears) with EVA diagnosed in the Department of Otorhinolaryngology, Shengjing Hospital of China Medical University from January 2012 to June 2016, who met the inclusion criteria and the exclusion criteria at the same time, including 37 males (74 ears) and 27 females (54 ears), aged from 6 months to 17 years, all of whom showed varying degrees of sensorineural hearing loss (SNHL). The imaging observations included the midpoint measurement (MP) and the operculum measurement(OP) of the temporal bone HRCT, the long signal area cross-sectional area (ESL), the short signal area cross-sectional area (ESS), as well as the largest total signal area cross-sectional area (EST) of the endolymphatic sac(ES) of the cochlear MRI. The audiological observations included collecting detailed medical history and subjective and/or objective audiological examinations to determine the character and degree of hearing loss. According to the progress and changes of hearing loss, they were divided into hearing stability group (86 ears) and fluctuation/progression group (42 ears). SPSS22.0 statistical software was used to carry out statistical analysis of the imaging measurement results.@*Results@#The sizes of MP and OP were smaller in the stable group than those in the fluctuating/progressive group, and the difference was statistically significant (P<0.05). For ESL, ESS or EST, there was no significant difference between the stable group and the fluctuating/progressive group (P>0.05). For the 13 patients with asymmetric hearing loss, the sizes of MP, OP, ESL, ESS or EST were not significantly different between the mild side and the serious side (P>0.05). For the ears whose ESL/ESS was>2 or the ESS/ESL was>2, the proportion was not significantly different between the stable group and the fluctuating/progressive group (P>0.05).@*Conclusions@#For patients with EVA,the smaller the enlarged vestibular aqueduct is,the more likely it is congenital severe sensorineural hearing loss. Patients with significantly enlarged vestibular aqueduct often exhibit volatility/progressive hearing loss. The degree of enlargement of the endolymphatic vessels and endolymphatic sac is not related to the degree of hearing loss. For EVA patients with asymmetric hearing loss, the mild or serious side of hearing loss is random, which is not affected by the degree of enlargement of the vestibular aqueduct and endolymphatic sac. The degree of hearing loss in patients with EVA is not related to the ratio of ESL/ESS.

Feasibility of constructing a unilateral sudden sensorineural hearing loss machine learning classification model based on diffusion tensor imaging / 中华放射学杂志

Objective To explore the feasibility of constructing a machine learning classification model for unilateral sudden sensorineural hearing loss (SSHL) patients and normal controls based on diffusion tensor imaging. Methods Prospective collection of 84 patients with untreated SSHL were recruited from the otolaryngology department of the Union Hospital of Tongji Medical College of Huazhong University of Science and Technology between June 2013 to May 2015 as the SSHL group. Meanwhile, a total of 63 healthy volunteers who were no any ear disease history, and the hearing function were confirmed with pure tone audiometry, were collected as the control group. All subjects underwent a brain DTI scan. The data were divided into the training set and validation set according to the ratio of 7 to 3, that was, the training set contained 58 cases of SSHL patients and 44 control groups, and the validation set included 26 cases of SSHL patients and 19 control groups. A vector which included the DTI parameters such as fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity was constructed with the software R. The LASSO regression of machine learning method was used to perform feature dimensionality reduction and construct a classification model. The training set samples were used to map the nomogram based on the multivariate logistic analysis method, the validation set and the AUC were used to evaluate the prediction ability of the nomogram, and the calibration curve was used to evaluate the model. Results From the 200 feature vectors including the fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values of each brain region, after each dimension reduction process, a total of six features were retained, which were the MD of left superior corona radiate and right superior fronto-occipital fasciculus, the AD of the body of corpus callosum, and the RD of left inferior cerebellar peduncle, left superior corona radiate and right posterior limb of internal capsule. The six features of patients with unilateral SSHL were higher than the control group, and the difference was statistically significant (P<0.05). Based on this, a two-class model is constructed and a nomogram is drawn. The sensitivity, specificity, accuracy and AUC of the training set were 93.1% (54/58), 72.7% (32/44), 84.3% (86/102) and 0.854, respectively; the sensitivity, specificity, accuracy and AUC of validation set were 80.8% (21/26), 84.2% (16/19), 82.2% (37/45), 0.870, respectively. Nomogram could significantly improve the classification efficiency of the control group and patients, and the model with the LASSO method showed a higher prediction curve than other models. Conclusions The machine learning classification model based on DTI metrics can effectively distinguish patients with unilateral sudden sensorineural deafness from healthy control people.

Evaluation of the Facial Recess and Cochlea on the Temporal Bone of Stillbirths regarding the Percutaneous Cochlear Implant

Abstract Introduction The literature shows that there are anatomical changes on the temporal bone anatomy during the first four years of life in children. Therefore, we decided to evaluate the temporal bone anatomy regarding the cochlear implant surgery in stillbirths between 32 and 40 weeks of gestational age using computed tomography to simulate the trajectory of the drill to the scala timpani avoiding vital structures. Objectives To measure the distances of the simulated trajectory to the facial recess, cochlea, ossicular chain and tympanic membrane, while performing the minimally invasive cochlear implant technique, using the Improvise imaging software (Vanderbilt University, Nashville, TN, US). Methods An experimental study with 9 stillbirth specimens, with gestational ages ranging between 32 and 40 weeks, undergoing tomographic evaluation with individualization and reconstruction of the labyrinth, facial nerve, ossicular chain, tympanic membrane and cochlea followed by drill path definition to the scala tympani. Improvise was used for the computed tomography (CT) evaluation and for the reconstruction of the structures and trajectory of the drill. Results Range of the distance of the trajectory to the facial nerve: 0.58 to 1.71mm. to the ossicular chain: 0.38 to 1.49 mm; to the tympanic membrane: 0.85 to 1.96 mm; total range of the distance of the trajectory: 5.92 to 12.65 mm. Conclusion The measurements of the relationship between the drill and the anatomical structures of the middle ear and the simulation of the trajectory showed that the middle ear cavity at 32 weeks was big enough for surgical procedures such as cochlear implants. Although cochlear implantation at birth is not an indication yet, this study shows that the technique may be an option in the future.

Pérdida auditiva inducida por ruido en trabajadores expuestos en su ambiente laboral / Noise induced hearing loss in workers exposed in their work environment

Introducción: La pérdida auditiva inducida por ruido constituye un verdadero problema desde el punto de vista social y de la salud, debido a su constante incremento, conforme la civilización avanza y se desarrolla. Con la industrialización y la falta de conciencia sobre su incidencia, este padecimiento se acrecienta día a día. Se estima que un tercio de la población mundial padece algún grado de afectación inducida por ruidos. Es importante conocer la prevalencia debido a que la hipoacusia inducida por el ruido es una de las principales causas de discapacidad prevenible. Objetivos: Identificar el riesgo laboral en el que se encuentran los trabajadores expuestos al ruido industrial, mediante la medición del grado de hipoacusia en vinculación con su entorno laboral y el estudio de la situación actual de la normativa vigente en materia de salud laboral, a fin de elaborar propuestas para la mejora de la situación detectada. Material y Métodos: Estudio descriptivo transversal con componente analítico, tomando como muestra a 109 trabajadores de una empresa de medios de comunicación de la ciudad de Asunción, en el año 2017, con el fin de identificar la prevalencia de las hipoacusias inducidas por ruido y su relación con los factores que las producen. Resultados: Fueron estudiados un total de 109 trabajadores, de distintos sectores de una empresa de comunicación gráfica. Presentaron hipoacusia sensorioneural 49 trabajadores, lo que representa una prevalencia del 45 %. Conclusiones: Existe riesgo significativo de lesiones auditivas en trabajadores expuestos a una contaminación sonora en dependencia de la exposición de carga horaria diaria y teniendo en cuenta que la naturaleza de la lesión tiene un carácter irreversible, es necesario mejorar las orientaciones respecto a las medidas preventivas. Ética: se respetan los principios de ética, preservando la identidad de los trabajadores evaluados. Respeta los principios de beneficencia puesto que puede contribuir a la salud auditiva de los mismos así como de no maleficencia puesto que este estudio no presenta riesgos.

Introduction: The noise-induced hearing loss is a real problem from the social and health point of view, due to its constant increase, as the civilization advances and develops. With industrialization and lack of awareness about its incidence, this condition is increasing day by day. It is estimated that one third of the world population suffers some degree of noise-induced affectation. It is important to know the prevalence because hearing-induced hearing loss is one of the main causes of preventable disability. Objectives: To identify the occupational risk in which workers are exposed to industrial noise, by measuring the degree of hearing loss in connection with their work environment and the study of the current situation of current regulations on occupational health, in order to elaborate proposals for the improvement of the situation detected. Material and Methods: Cross-sectional descriptive study with analytical component, taking as sample 109 workers from a media company of the city of Asunción, in the year 2017, in order to identify the prevalence of noise-induced hearing loss and its relationship with the factors that produce them. Results: A total of 109 workers from different sectors of a graphic communication company were studied. 49 workers presented sensorineural hearing loss, representing a prevalence of 45%. Conclusions: There is a significant risk of hearing damage in workers exposed to noise pollution depending on the exposure of daily workload and taking into account that the nature of the injury is irreversible, it is necessary to improve the guidelines regarding preventive measures. Ethics: the principles of ethics are respected, preserving the identity of the evaluated workers. It respects the principles of beneficence since it can contribute to their auditory health as well as non-maleficence since this study does not present risks.

Susac's syndrome: isolated retinal artery occlusion after 10 years of remission / Síndrome de Susac: oclusão isolada da artéria retiniana após 10 anos de remissão

ABSTRACT Susac's syndrome, or microangiopathy of the retina, inner ear, and brain, is a rare condition characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. The complete triad has been documented in 85% of reported cases. At clinical onset, the most common manifestations are central nervous system symptoms, followed by visual symptoms and hearing disturbances. Although the clinical course of Susac's syndrome is usually self-limiting, fluctuating, and monophasic, clinical polycyclic and chronic courses have also been described. Likewise, recurrences of the full triad after more than 10 years of remission have been reported. We describe a 21-year-old woman who presented with branch retinal artery occlusions and magnetic resonance imaging findings compatible with Susac's syndrome without objective hearing loss. After 10 years of remission, the patient complained of visual field loss due to new retinal ischemia. Neither other symptoms nor neuroimaging or audiometry pathologic findings were found during the clinical course.

RESUMO A síndrome de Susac, ou a micro angiopatia da retina, do ouvido interno e do cérebro, é uma condição rara caracterizada pela tríade clínica de encefalopatia, oclusão de ramo da artéria retiniana e perda de audição neuro-sensorial. A tríade completa é documentada em 85% dos casos registrados. No início dos sinais clínicos, a manifestação mais comum relaciona-se ao sistema nervoso central, seguida por sintomas visuais e distúrbios auditivos. Apesar do curso clínico da síndrome de Susac ser usualmente auto limitante, variável e monofásico, cursos clínicos policíclicos e crônicos têm sido também descritos. Do mesmo modo, recorrências da tríade completa após mais de 10 anos de remissão têm sido relatadas. Descrevemos o caso de uma mulher de 21 anos que apresentava oclusões de ramos da artéria retiniana e imagens por ressonância magnética compatíveis com a síndrome de Susac, sem comprometimento objetivo da audição. Dez anos após a remissão, a paciente queixou-se de perda de campo visual devido a uma nova isquemia da retina. Nenhum outro sintoma, ou neuroimagem ou achado audiométrico patológico foi observado durante o curso clínico.

Hipoacusia neurosensorial, secundaria a enfermedad relacionada con MYH9: Reporte de caso / Neurosensory hearing loss, secondary to MYH9 related disease: Case report

La enfermedad relacionada con MYH9, es un conjunto de síntomas que se expresan por la mutación de la cadena pesada de la miosina no muscular tipo IIA, la cual se expresa ampliamente en las células del cuerpo humano; dicho síndrome es una causa sindrómica de hipoacusia neurosensorial, que cada día ha aumentado su incidencia; y debido a lo anterior y además teniendo en cuenta que este tipo de pérdida auditiva es progresivo y severo, tiene una gran afección sobre la calidad de vida de los pacientes que presentan esta enfermedad, por lo tanto es importante conocer las manifestaciones clínicas relacionadas, la fisiopatología, y el tratamiento de elección en estos casos, con el fin de mejorar la calidad de vida de los pacientes.

MYH9 related disease, is a set of symptoms due to the mutation of the heavy chain of non-muscular myosin type IIA, which is widely expressed in the cells of the human body. It is a syndromic cause of sensorineural hearing loss, which has been increasing its incidence; and taking into account that this type of hearing loss is progressive and severe, its impact on the quality of life of patients is highly important. Therefore it is necessary to know the clinical manifestations related to pathophysiology, and the treatment of choice in these cases, in order to improve the quality of life of patients.

Screening for hotspot mutations associated with genetic hearing impairment in pregnant women and subsequent prenatal diagnosis in high risk pregnancies / 中华耳鼻咽喉头颈外科杂志

Objective@#To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families.@*Methods@#Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes (GJB2 c. 35 del G, c. 176_191 del 16 bp, c. 235 del G, c. 299_300 del AT, GJB3 c. 538 C>T, SLC26A4 c. 2168 A>G, IVS 7-2 A>G, mitochondrial DNA 12S rRNA m. 1494 C>T, m. 1555 A>G). Genotype analysis was carried out in husbands of women carrying mutations, and prenatal diagnosis was carried out in the fetuses with high risk of deafness.@*Results@#Among all women tested, 1 208(4.63%) were carriers of genetic deafness mutations, 7 with hearing impairment were affected by homozygous or compound heterozygous mutations, 51 were mitochondrial gene mutation carriers, 103 were carriers of GJB3 c. 538 C>T heterozygous mutation, 1 026 were carriers of GJB2 or SLC26A4 heterozygous mutations, and 21 carried heterozygous mutations in two genes simultaneously. In 394 families, the husbands accepted gene sequence testing, and 27 in which were determined as carriers of mutations in identical genes as their wives. Among which, 18 families received prenatal diagnosis, and 5 fetuses were diagnosed as hereditary deafness. In 9 families who did not receive prenatal diagnosis, 1 neonate was diagnosed as compound heterozygote after delivery.@*Conclusion@#In order to prevent birth defects with congenital hearing problems, it is effective to provide screening for hotspot mutations in pregnant women and to perform prenatal diagnosis on high risk pregnancies.