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1.
J Vis Exp ; (212)2024 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-39465961

RESUMO

Electric-acoustic stimulation (EAS) is a promising treatment to improve hearing ability in patients with high-frequency hearing loss (HL). In EAS surgeries, shorter electrodes have been preferred to avoid the presence of an electrode covering the residual hearing region. However, our earlier studies showed that EAS with longer electrodes (28 mm) could preserve acoustic hearing. Additionally, we reported that the hearing preservation (HP) scores were independent of the length of the inserted electrodes, consistent with the systematic review. As most EAS patients gradually lose residual hearing over time due to the natural course of HL, in these cases, providing broader cochlear coverage using longer electrodes was beneficial toward better place-pitch matching. In addition to preparing for the deterioration in hearing in the future, EAS with longer electrodes could offer various types of map strategies. Herein, we show the pre-, intra-, and post-procedures for EAS surgery. Appropriate preoperative evaluation, less invasive surgery, flexible lateral-wall electrodes, and steroid administration resulted in good HP following EAS with longer electrodes.


Assuntos
Perda Auditiva de Alta Frequência , Humanos , Perda Auditiva de Alta Frequência/cirurgia , Estimulação Acústica/métodos , Estimulação Acústica/instrumentação , Implante Coclear/métodos , Implante Coclear/instrumentação , Cóclea/cirurgia , Implantes Cocleares , Estimulação Elétrica/instrumentação , Estimulação Elétrica/métodos , Eletrodos Implantados
2.
Acta Otolaryngol ; : 1-8, 2024 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-39451138

RESUMO

BACKGROUND: In cases of congenital sensorineural hearing loss, testing for genetic etiologies and congenital cytomegalovirus (cCMV) infection have become common practice. AIMS/OBJECTIVES: The purpose of this study is to determine which specific testing methodologies should be used and when. MATERIAL AND METHODS: We surveyed 20 practicing otolaryngologists across eighteen institutions in thirteen countries about their approach to cCMV, GJB2, and wider genetic testing. RESULTS: We found 90% of respondents employ all three tests, either in routine or special cases. cCMV testing is widely used, with 95% of respondents incorporating it into their clinical practice. GJB2 testing was employed by 90%. In cases with negative GJB2 test results, a majority of respondents proceeded to wider genetic screening. Test reimbursement was also examined for each test. For cCMV testing, 63.1% reported reimbursement, 68.4% reported reimbursement for GJB2 variant testing and 52.6% reported reimbursement for wider genetic screening. CONCLUSIONS AND SIGNIFICANCE: A common approach is to perform cCMV and GJB2 testing as the first tests, followed by wider genetic testing. This study offers insight into the prevalence, methodologies, and reimbursement status of these testing methodologies across multiple hearing centers and countries. Current consensus and future directions are described based on the current survey.

3.
Acta Otolaryngol ; 144(10): 542-551, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39434647

RESUMO

BACKGROUND: While cochlear implantation (CI) and electric acoustic stimulation (EAS) have a positive outcome in most cases, their effectiveness varies depending on the etiology of the hearing loss. Among the various etiologies, genetic factors are the leading cause of hearing loss and may impact CI and EAS outcomes. AIMS/OBJECTIVES: To reveal the genetic background of the hearing loss in CI/EAS patients in each ethnic population, we undertook a multi-center study involving the genetic testing of hearing loss in CI/EAS patients from 10 centers. MATERIAL AND METHODS: Saliva samples and clinical information for the patients and their family members were obtained and next-generation sequencing analysis using a panel carrying 63 deafness genes was then performed. RESULTS: Genetic testing successfully identified the causative gene variants in 54.5% (48/88) of patients with pre-lingual onset hearing loss (onset under 6 years) and in 12% (12/95) of those with late-onset hearing loss (onset at 6 years or more). CONCLUSIONS AND SIGNIFICANCE: We clearly indicated that genetic factors are the most common cause of hearing loss regardless of ethnic background. Saliva-based genetic testing is a useful tool for multi-center studies seeking to clarify the genetic causes of hearing loss in CI or EAS patients between countries separated by distance.


Assuntos
Implante Coclear , Humanos , Masculino , Feminino , Marcadores Genéticos , Criança , Adulto , Adolescente , Pessoa de Meia-Idade , Pré-Escolar , Adulto Jovem , Perda Auditiva/genética , Testes Genéticos , Lactente , Patrimônio Genético , Idoso , Surdez/genética
4.
Auris Nasus Larynx ; 51(4): 811-821, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38968877

RESUMO

OBJECTIVE: Acute sensorineural hearing loss represents a spectrum of conditions characterized by sudden onset hearing loss. The "Clinical Practice Guidelines for the Diagnosis and Management of Acute Sensorineural Hearing Loss" were issued as the first clinical practice guidelines in Japan outlining the standard diagnosis and treatment. The purpose of this article is to strengthen the guidelines by adding the scientific evidence including a systematic review of the latest publications, and to widely introduce the current treatment options based on the scientific evidence. METHODS: The clinical practice guidelines were completed by 1) retrospective data analysis (using nationwide survey data), 2) systematic literature review, and 3) selected clinical questions (CQs). Additional systematic review of each disease was performed to strengthen the scientific evidence of the diagnosis and treatment in the guidelines. RESULTS: Based on the nationwide survey results and the systematic literature review summary, the standard diagnosis flowchart and treatment options, including the CQs and recommendations, were determined. CONCLUSION: The guidelines present a summary of the standard approaches for the diagnosis and treatment of acute sensorineural hearing loss. We hope that these guidelines will be used in medical practice and that they will initiate further research.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Humanos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/terapia , Perda Auditiva Súbita/terapia , Perda Auditiva Súbita/diagnóstico , Doença Aguda , Japão , Neuroma Acústico/terapia , Neuroma Acústico/diagnóstico , Auxiliares de Audição
5.
Stem Cell Res ; 79: 103471, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38878669

RESUMO

Cadherin 23 (CDH23) is one of the most common genes responsible for hereditary hearing loss; a mutation of CDH23 can cause a wide range of symptoms depending on the variant. In this study, an iPSC line was generated from a patient with late-onset, progressive high frequency hearing loss caused by c.[719C > T];[6085C > T]:p.[P240L];[R2029W] compound heterozygous variants of CDH23. The cells were confirmed to have a normal karyotype, express markers of pluripotency, and have tri-embryonic differentiation potential. This disease-specific iPSC line will further the construction of disease models and the elucidation of the pathophysiology of CDH23 mutations.


Assuntos
Caderinas , Perda Auditiva , Células-Tronco Pluripotentes Induzidas , Mutação , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Caderinas/genética , Caderinas/metabolismo , Perda Auditiva/genética , Perda Auditiva/patologia , Linhagem Celular , Diferenciação Celular , Masculino , Proteínas Relacionadas a Caderinas
6.
Sci Rep ; 14(1): 10596, 2024 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-38720048

RESUMO

To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants. Thirty-nine patients with sensory neural hearing loss (11 males and 28 females) with biallelic pathogenic variants in either GJB2, SLC26A4, or CDH23 were included in this study (13 GJB2, 15 SLC26A4, and 11 CDH23). The patients were examined using caloric testing and cervical and ocular vestibular-evoked myogenic potentials (cVEMP and oVEMP). We also compared vestibular function and symptoms between patients with these gene variants and 78 normal-hearing ears without vestibular symptoms as controls. The frequency of semicircular canal hypofunction in caloric testing was higher in patients with SLC26A4 variants (47%) than in those with GJB2 (0%) and CDH23 variants (27%). According to the cVEMP results, 69% of patients with GJB2 variants had saccular hypofunction, a significantly higher proportion than in those carrying other variants (SLC26A4, 20%; CDH23, 18%). In oVEMP, which reflects utricular function, no difference was observed in the frequency of hypofunction among the three genes (GJB2, 15%; SLC26A4, 40%; and CDH23, 36%). Hence, discernable trends indicate vestibular dysfunction associated with each gene.


Assuntos
Proteínas Relacionadas a Caderinas , Caderinas , Conexina 26 , Transportadores de Sulfato , Humanos , Feminino , Masculino , Caderinas/genética , Transportadores de Sulfato/genética , Conexina 26/genética , Adulto , Adolescente , Pessoa de Meia-Idade , Criança , Adulto Jovem , Potenciais Evocados Miogênicos Vestibulares , Proteínas de Membrana Transportadoras/genética , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/fisiopatologia , Testes de Função Vestibular , Pré-Escolar , Vestíbulo do Labirinto/fisiopatologia , Conexinas/genética
7.
Genes (Basel) ; 15(5)2024 04 29.
Artigo em Inglês | MEDLINE | ID: mdl-38790200

RESUMO

Hearing loss (HL) is a common and multi-complex etiological deficit that can occur at any age and can be caused by genetic variants, aging, toxic drugs, noise, injury, viral infection, and other factors. Recently, a high incidence of genetic etiologies in congenital HL has been reported, and the usefulness of genetic testing has been widely accepted in congenital-onset or early-onset HL. In contrast, there have been few comprehensive reports on the relationship between late-onset HL and genetic causes. In this study, we performed next-generation sequencing analysis for 91 HL patients mainly consisting of late-onset HL patients. As a result, we identified 23 possibly disease-causing variants from 29 probands, affording a diagnostic rate for this study of 31.9%. The highest diagnostic rate was observed in the congenital/early-onset group (42.9%), followed by the juvenile/young adult-onset group (31.7%), and the middle-aged/aged-onset group (21.4%). The diagnostic ratio decreased with age; however, genetic etiologies were involved to a considerable degree even in late-onset HL. In particular, the responsible gene variants were found in 19 (55.9%) of 34 patients with a familial history and progressive HL. Therefore, this phenotype is considered to be a good candidate for genetic evaluation based on this diagnostic panel.


Assuntos
Idade de Início , Testes Genéticos , Perda Auditiva Neurossensorial , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Feminino , Masculino , Perda Auditiva Neurossensorial/genética , Adulto , Pessoa de Meia-Idade , Testes Genéticos/métodos , Adolescente , Idoso , Criança , Adulto Jovem , Pré-Escolar , Mutação , Predisposição Genética para Doença
8.
Genes (Basel) ; 15(4)2024 04 12.
Artigo em Inglês | MEDLINE | ID: mdl-38674423

RESUMO

The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.


Assuntos
Perda Auditiva Neurossensorial , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores , Humanos , Masculino , Feminino , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética , Criança , Pré-Escolar , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Adulto , Japão , Adolescente , Mutação , Lactente , Sequenciamento de Nucleotídeos em Larga Escala , Estudos de Coortes , Pessoa de Meia-Idade , População do Leste Asiático
9.
Int J Epidemiol ; 53(3)2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38609324

RESUMO

BACKGROUND: Congenital hearing loss (HL), one of the most common paediatric chronic conditions, significantly affects speech and language development. Its early diagnosis and medical intervention can be achieved via newborn hearing screening. However, data on the prevalence and aetiology of congenital HL in infants who fail newborn hearing screening are limited. METHODS: The sample population included 153 913 infants who underwent newborn hearing screening, and the prevalence of congenital HL, defined as moderate to profound bilateral HL (BHL) or unilateral HL (UHL) (≥40 dB HL), in one prefecture of Japan was measured to minimize the loss-to-follow-up rate, a common factor affecting the screening procedure. Comprehensive aetiological investigation, including physiology, imaging, genetic tests, and congenital cytomegalovirus screening, was performed on children diagnosed with congenital HL. RESULTS: The calculated prevalence of congenital HL was 1.62 per 1000 newborns (bilateral, 0.84; unilateral, 0.77). More than half of the cases with congenital bilateral or severe to profound UHL showed genetic aetiology or cochlear nerve deficiency (CND), respectively. Approximately 4% and 6% of the cases of congenital BHL and UHL were associated with congenital cytomegalovirus infection and auditory neuropathy spectrum disorder, respectively. CONCLUSIONS: This is an epidemiological and comprehensive aetiological study of congenital HL, as determined via newborn hearing screening according to its severity and laterality, in a large-scale general population of a developed country. Our findings can serve as a reference for optimizing care and intervention options for children with HL and their families.


Assuntos
Perda Auditiva Central , Audição , Recém-Nascido , Lactente , Humanos , Criança , Causalidade , Testes Genéticos , Japão/epidemiologia
10.
Sci Rep ; 14(1): 8326, 2024 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-38594301

RESUMO

The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2). However, the prevalence and detailed clinical features of MYO7A-associated hearing loss across a large population remain unclear. In this study, we conducted next-generation sequencing analysis for a large cohort of 10,042 Japanese hearing loss patients. As a result, 137 patients were identified with MYO7A-associated hearing loss so that the prevalence among Japanese hearing loss patients was 1.36%. We identified 70 disease-causing candidate variants in this study, with 36 of them being novel variants. All variants identified in autosomal dominant cases were missense or in-frame deletion variants. Among the autosomal recessive cases, all patients had at least one missense variant. On the other hand, in patients with Usher syndrome, almost half of the patients carried biallelic null variants (nonsense, splicing, and frameshift variants). Most of the autosomal dominant cases showed late-onset progressive hearing loss. On the other hand, cases with autosomal recessive inheritance or Usher syndrome showed congenital or early-onset hearing loss. The visual symptoms in the Usher syndrome cases developed between age 5-15, and the condition was diagnosed at about 6-15 years of age.


Assuntos
Perda Auditiva Neurossensorial , Síndromes de Usher , Humanos , Pré-Escolar , Criança , Adolescente , Síndromes de Usher/epidemiologia , Síndromes de Usher/genética , Prevalência , Miosinas/genética , Miosina VIIa/genética , Mutação , Linhagem
11.
Int J Mol Sci ; 25(5)2024 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-38474154

RESUMO

A comprehensive gene expression investigation requires high-quality RNA extraction, in sufficient amounts for real-time quantitative polymerase chain reaction and next-generation sequencing. In this work, we compared different RNA extraction methods and evaluated different reference genes for gene expression studies in the fetal human inner ear. We compared the RNA extracted from formalin-fixed paraffin-embedded tissue with fresh tissue stored at -80 °C in RNAlater solution and validated the expression stability of 12 reference genes (from gestational week 11 to 19). The RNA from fresh tissue in RNAlater resulted in higher amounts and a better quality of RNA than that from the paraffin-embedded tissue. The reference gene evaluation exhibited four stably expressed reference genes (B2M, HPRT1, GAPDH and GUSB). The selected reference genes were then used to examine the effect on the expression outcome of target genes (OTOF and TECTA), which are known to be regulated during inner ear development. The selected reference genes displayed no differences in the expression profile of OTOF and TECTA, which was confirmed by immunostaining. The results underline the importance of the choice of the RNA extraction method and reference genes used in gene expression studies.


Assuntos
Perfilação da Expressão Gênica , RNA , Humanos , Perfilação da Expressão Gênica/métodos , Gliceraldeído-3-Fosfato Desidrogenases/genética , Expressão Gênica , Reação em Cadeia da Polimerase em Tempo Real
12.
Intern Med ; 63(7): 1005-1008, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37558483

RESUMO

We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.


Assuntos
Doença de Charcot-Marie-Tooth , Surdez , Perda Auditiva Central , Perda Auditiva Neurossensorial , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/genética , Perda Auditiva Central/complicações , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Doença de Charcot-Marie-Tooth/genética , Surdez/complicações , ATPase Trocadora de Sódio-Potássio
13.
Acta Otolaryngol ; 143(9): 748-752, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37737708

RESUMO

BACKGROUND: To achieve better speech performance following cochlear implantation (CI), measuring the patient's cochlear duct length (CDL) and determining the appropriate length of the CI array are important. OBJECTIVE: To investigate the CDL in CI patients after using the OTOPLAN software preoperatively and compare the results of angular insertion depth (AID) estimation by OTOPLAN and postoperative radiography. MATERIALS AND METHODS: The study included 105 Japanese CI patients with normal cochleae. We measured the CDL using OTOPLAN and the position of the tip channel of the electrode for each selected electrode array, and estimated the AID using the software. RESULTS: The mean CDL was 35.1 ± 1.6 mm. Preoperatively, the mean estimated AID was 580.3 ± 57.8°. Postoperative radiography revealed a mean AID of 583.0 ± 56.7°, demonstrating a strong linear correlation between the two measurements (R2 = 0.635). CONCLUSION AND SIGNIFICANCE: Our findings revealed that CDL varies widely, which is consistent with previous studies. To achieve better speech perception, surgeons should select the appropriate length of CI electrode array based on the individual's CDL. Preoperative measurement of each CDL by OTOPLAN, which is clinically feasible and comparable to postoperative evaluation, can be used to ensure selection of the appropriate electrode array length.


Assuntos
Implante Coclear , Implantes Cocleares , Humanos , Implante Coclear/métodos , Cóclea/cirurgia , Ducto Coclear , Tomografia Computadorizada por Raios X/métodos
14.
Genes (Basel) ; 14(7)2023 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-37510254

RESUMO

Musculocontractural Ehlers-Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% of mcEDS-CHST14 patients had hearing loss (HL), more commonly of the high-frequency type. Here, we report the first systemic investigation of the otological features of patients with this disorder based on the world's largest cohort at Shinshu University Hospital. Nine patients [18 ears; four male and five female patients; mean age, 18 years old (range, 10-28)] underwent comprehensive otological evaluation: audiogram, distortion product otoacoustic emission (DPOAE) test, and tympanometry. The audiogram, available in all 18 ears, showed HL in eight patients (8/9, 89%) and in 14 ears (14/18, 78%): bilateral in six patients (6/9, 67%) and unilateral in two (2/9, 22%); mild in eight ears (8/18, 44%) and moderate in six (6/18, 33%); and high-frequency HL in five (5/18, 28%) and low-frequency HL in five (5/18, 28%). An air-bone gap was detected in one ear (1/18, 6%). DPOAE was available in 13 ears, with the presence of a response in five (5/13, 38%) and the absence in eight (8/13, 62%), including in three ears of normal hearing. Tympanometry results were available in 12 ears: Ad type in nine (9/12, 75%) and As type in one (1/12, 8.3%). Patients with mcEDS-CHST14 had a high prevalence of HL, typically sensorineural and bilateral, with mild to moderate severity, of high-frequency or low-frequency type, and sometimes with no DPOAE response. The pathophysiology underlying HL might be complex, presumably related to alterations of the tectorial membrane and/or the basilar membrane of Corti associated with disorganized collagen fibril networks. Regular and careful check-ups of hearing using multiple modalities are recommended for mcEDS-CHST14 patients.


Assuntos
Surdez , Síndrome de Ehlers-Danlos , Adolescente , Feminino , Humanos , Masculino , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/patologia , Matriz Extracelular/patologia , Pele/patologia , Sulfotransferases/genética
15.
Acta Otolaryngol ; 143(5): 402-407, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37083037

RESUMO

BACKGROUND: Many studies have discussed the factors influencing hearing outcomes after cochlear implantation, but few have addressed improvements in speech perception for these patients over time. OBJECTIVE: To investigate the relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation (CI). MATERIALS AND METHODS: This study enrolled 83 patients (96 ears) who underwent CI at Shinshu University Hospital. The patients were assessed up to 12 months after CI by a monosyllable test, and showed either delayed improvement (DI), early improvement (EI), or stable improvement (SI) when compared with their preoperative score. Eight preoperative variables were also examined for their effects on speech perception over time. RESULTS: The DI, EI, SI groups comprised 35.4%, 43.8%, and 20.8% of all patients, respectively. Patients in the DI group were older at surgery than those in the EI and SI groups, and their onset age were also older than that in the SI group. No other preoperative variables showed significant differences across the three groups. CONCLUSIONS AND SIGNIFICANCE: Our findings revealed that age at implantation and age at onset of hearing loss significantly affected the improvement pattern of speech perception. Age may be useful in predicting recovery of speech perception after CI.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva , Percepção da Fala , Humanos , Perda Auditiva/cirurgia , Surdez/cirurgia , Audição , Resultado do Tratamento
16.
Acta Otolaryngol ; 143(1): 43-48, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36661486

RESUMO

BACKGROUND: Patients with unilateral hearing loss have difficulty localizing sound. Severe-to-profound unilateral hearing loss is most commonly caused by idiopathic sudden sensorineural hearing loss (SSNHL). AIMS/OBJECTIVES: To assess the sound localization ability of patients with idiopathic unilateral SSNHL and examine the factors affecting the results. MATERIAL AND METHODS: We retrospectively enrolled 141 patients with idiopathic unilateral SSNHL. The assessment stimuli were speech-shaped noise from one of the nine loudspeakers in a 180° arc. Multiple regression analysis was used to examine the factors that affected sound localization ability. RESULTS: There was a strong correlation between the hearing level on the affected side post-treatment and the deviation score as the index of sound localization ability. The results of the multiple regression analysis suggested that sound localization may be partially affected by hearing level on the unaffected side and age. CONCLUSIONS AND SIGNIFICANCE: The results showed that sound localization ability decreased in idiopathic SSNHL patients with severe-to-profound hearing loss post-treatment. This study provides important data for future interventions for unilateral hearing loss, including cochlear implants.


Assuntos
Implantes Cocleares , Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Perda Auditiva Unilateral , Localização de Som , Percepção da Fala , Humanos , Estudos Retrospectivos
17.
Am J Med Genet A ; 191(1): 37-51, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36189931

RESUMO

Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1. This is the largest Asian case series and the first to apply an amplification-based next-generation sequencing through custom panels of causative genes for HCTDs, including a specific method of evaluating copy number variations. Among 429 patients with suspected HCTDs analyzed, 101 were suspected to have vEDS, and 33 of them (32.4%) were found to have COL3A1 variants. Two patients with a clinical diagnosis of Loeys-Dietz syndrome and/or familial thoracic aortic aneurysm and dissection were also found to have COL3A1 variants. Twenty cases (57.1%) had missense variants leading to glycine (Gly) substitutions in the triple helical domain, one (2.9%) had a missense variant leading to non-Gly substitution in this domain, eight (22.9%) had splice site alterations, three (8.6%) had nonsense variants, two (5.7%) had in-frame deletions, and one (2.9%) had a multi-exon deletion, including two deceased patients analyzed with formalin-fixed and paraffin-embedded samples. This is a clinically useful system to detect a wide spectrum of variants from various types of samples.


Assuntos
Síndrome de Ehlers-Danlos Tipo IV , Síndrome de Ehlers-Danlos , Gravidez , Feminino , Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Colágeno Tipo III/genética , Variações do Número de Cópias de DNA , Testes Genéticos
18.
Acta Otolaryngol ; 142(9-12): 675-678, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36519274

RESUMO

BACKGROUND: Delayed endolymphatic hydrops (DEH) is a rare disease, and the actual number of patients in Japan remains unknown. OBJECTIVE: To investigate the number and prevalence of patients with DEH in Japan. METHODS: In total, 781 departments of otolaryngology in Japan were selected for survey by stratified random sampling according to the total number of hospital beds. We sent questionnaires to the target departments and collected data regarding the number of patients with DEH who visited those departments in 2019. RESULTS: The overall response rate was 68.0% (531 departments). The estimate number of patients with DEH in Japan was 962, and the prevalence was calculated to be 0.8 per 100,000 population. CONCLUSION: Patients with DEH were extremely rare in Japan. SIGNIFICANCE: This may be the first nationwide epidemiological study on the number and prevalence of patients with DEH in Japan or in the world.


Assuntos
Hidropisia Endolinfática , Humanos , Hidropisia Endolinfática/epidemiologia , Japão/epidemiologia , Prevalência , Orelha , Inquéritos e Questionários
19.
Acta Otolaryngol ; 142(3-4): 302-307, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35621147

RESUMO

BACKGROUND: Patients with unilateral hearing loss have difficulties perceiving speech in a noisy environment. Unilateral severe to profound hearing loss is most commonly caused by idiopathic sudden sensorineural hearing loss (SSNHL). OBJECTIVES: To assess speech perception in noise among patients with idiopathic unilateral SSNHL, and examine the factors affecting the results. MATERIAL AND METHODS: We retrospectively enrolled 93 patients with idiopathic unilateral SSNHL. The speech signal was presented at a constant sound pressure level, while the noise signal varied from +5 dB to -5 dB signal-to-noise ratio (SNR) in units of 5 dB (S0/Nhe). RESULTS: As the SNR decreased, the percentage of correct answers also decreased. The correct answer rate decreased with increased hearing level at post-treatment. There was a correlation between age and speech perception, especially when dividing the patients into two groups: <65 years old and ≥65 years old. CONCLUSIONS AND SIGNIFICANCE: The results showed that speech perception clearly decreased in a noisy environment rather than in a quiet environment, and the correct answer rate of the speech perception test in noise was significantly correlated with hearing level at post-treatment. This study provides important data for future interventions for unilateral hearing loss, including cochlear implants.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Perda Auditiva Unilateral , Percepção da Fala , Idoso , Humanos , Ruído , Estudos Retrospectivos
20.
Acta Otolaryngol ; 142(3-4): 308-315, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35481391

RESUMO

BACKGROUND: Cochlear implantation (CI) is an effective treatment for severe-to-profound hearing loss patients and is currently used as the standard therapeutic option worldwide. However, the outcomes of CI vary among patients. AIMS/OBJECTIVES: This study aimed to clarify the clinical features for each etiological group as well as the effects of etiology on CI outcomes. MATERIALS AND METHODS: We collected clinical information for 308 pediatric cochlear implant cases, including the etiology, hearing thresholds, age at CI, early auditory skill development, total development, monosyllable perception, speech intelligibility and vocabulary development in school age, and compared them for each etiology group. RESULTS: Among the 308 CI children registered for this survey, the most common etiology of hearing loss was genetic causes. The genetic etiology group showed the most favorable development after CI followed by the unknown etiology group, syndromic hearing loss group, congenital CMV infection group, inner ear malformation group, and cochlear nerve deficiency group. CONCLUSIONS AND SIGNIFICANCE: Our results clearly indicated that the etiology of HL affects not only early auditory skill development, but also vocabulary development in school age. The results of the present study will aid in more appropriate CI outcome assessment and in more appropriate intervention or habilitation programs.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Percepção da Fala , Criança , Implante Coclear/métodos , Surdez/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Humanos , Inteligibilidade da Fala , Resultado do Tratamento , Vocabulário
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