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2.
Artigo em Chinês | MEDLINE | ID: mdl-32791601

RESUMO

Immune-Mediated Inner Ear Diseases(IMIED) is one of the curable sensorineural hearing loss caused by abnormal immune response, which may be primary inner ear diseases or associated with systemic autoimmune diseases. Since the complex differential diagnosis and no reliable diagnostic tests, the early identification of IMIED was extremely tricky. The treatment still mainly depends on glucocorticoid, but as researchs move along, directing at different pathogenesis, more and more therapies have been proposed. This article reviews the diagnosis and different treatment methods of IMIED.


Assuntos
Doenças Autoimunes , Perda Auditiva Neurossensorial/diagnóstico , Doenças do Labirinto/diagnóstico , Diagnóstico Diferencial , Glucocorticoides , Humanos
3.
Int J Audiol ; 59(10): 801-808, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32609044

RESUMO

Objective: COVID-19 has been prohibitive to traditional audiological services. No- or low-touch audiological assessment outside a sound-booth precludes test batteries including bone conduction audiometry. This study investigated whether conductive hearing loss (CHL) can be differentiated from sensorineural hearing loss (SNHL) using pure-tone air conduction audiometry and a digits-in-noise (DIN) test.Design: A retrospective sample was analysed using binomial logistic regressions, which determined the effects of pure tone thresholds or averages, speech recognition threshold (SRT), and age on the likelihood that participants had CHL or bilateral SNHL.Study sample: Data of 158 adults with bilateral SNHL (n = 122; PTA0.5-4 kHz > 25 dB HL bilaterally) or CHL (n = 36; air conduction PTA0.5-4 kHz > 25 dB HL and ≥20 dB air bone gap in the affected ears) were included.Results: The model which best discriminated between CHL and bilateral SNHL used low-frequency pure-tone average (PTA), diotic DIN SRT, and age with an area under the ROC curve of 0.98 and sensitivity and specificity of 97.2 and 93.4%, respectively.Conclusion: CHL can be accurately distinguished from SNHL using pure-tone air conduction audiometry and a diotic DIN. Restrictions on traditional audiological assessment due to COVID-19 require lower touch audiological care which reduces infection risk.


Assuntos
Audiometria de Tons Puros/métodos , Limiar Auditivo , Infecções por Coronavirus/prevenção & controle , Perda Auditiva Condutiva/diagnóstico , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Teste do Limiar de Recepção da Fala , Adulto , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus , Diagnóstico Diferencial , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
4.
J Laryngol Otol ; 134(6): 501-508, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32614760

RESUMO

OBJECTIVE: The diagnostic value of exploratory tympanotomy in sudden sensorineural hearing loss remains controversial. This study and review were performed to identify the incidence of perilymphatic fistula in patients with sudden sensorineural hearing loss. The effectiveness of tympanotomy for sealing of the cochlear windows in cases with perilymphatic fistula was evaluated. METHODS: A search in common databases was performed. Overall, 5034 studies were retrieved. Further, a retrospective analysis on 90 patients was performed. RESULTS: Eight publications dealing with tympanotomy in patients with sudden sensorineural hearing loss were identified. In 90 patients diagnosed with sudden sensorineural hearing loss and undergoing exploratory tympanotomy, 10 patients (11 per cent) were identified with a perilymphatic fistula, and this corresponds to the results obtained from our review (13.6 per cent). CONCLUSION: There was no significant improvement after exploratory tympanotomy and sealing of the membranes for patients with a definite perilymphatic fistula.


Assuntos
Fístula/cirurgia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Súbita/complicações , Ventilação da Orelha Média/métodos , Feminino , Fístula/diagnóstico por imagem , Alemanha/epidemiologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Súbita/epidemiologia , Perda Auditiva Súbita/terapia , Humanos , Incidência , Doenças do Labirinto/patologia , Masculino , Pessoa de Meia-Idade , Ventilação da Orelha Média/efeitos adversos , Perilinfa , Estudos Retrospectivos , Janela da Cóclea/diagnóstico por imagem , Janela da Cóclea/patologia , Janela da Cóclea/cirurgia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Doenças Vestibulares/complicações
6.
J Laryngol Otol ; 134(6): 509-518, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32508296

RESUMO

OBJECTIVE: To determine the prevalence and distribution of inner-ear malformations in congenital single-sided deafness cases, as details of malformation type are crucial for disease prognosis and management. METHODS: A retrospective study was conducted of 90 patients aged under 16 years with congenital single-sided deafness. Radiological findings were evaluated using computed tomography and magnetic resonance imaging. Inner-ear malformations were identified and cochlear nerve status was determined in affected ears. RESULTS: Out of 90 ears, 42 (46.7 per cent) were found to have inner-ear malformation. Isolated cochlear aperture stenosis was the most common anomaly (n = 18, 20 per cent), followed by isolated cochlear aperture atresia (n = 11, 12.2 per cent) and cochlear hypoplasia (n = 7, 7.8 per cent). Cochlear nerve deficiency was encountered in 41 ears (45.6 per cent). The internal auditory canal was also stenotic in 49 ears (54.4 per cent). CONCLUSION: Inner-ear malformations, especially cochlear aperture anomalies, are involved in the aetiology of single-sided deafness more than expected. The cause of single-sided deafness differs greatly between congenital and adult-onset cases. All children with single-sided deafness should undergo radiological evaluation, as the prognosis and management, as well as the aetiology, may be significantly influenced by inner-ear malformation type.


Assuntos
Cóclea/patologia , Surdez/etiologia , Orelha Interna/anormalidades , Doenças do Labirinto/congênito , Adolescente , Criança , Pré-Escolar , Cóclea/anormalidades , Cóclea/inervação , Nervo Coclear/anormalidades , Nervo Coclear/fisiopatologia , Constrição Patológica/patologia , Surdez/diagnóstico , Orelha Interna/diagnóstico por imagem , Orelha Interna/patologia , Feminino , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Lactente , Doenças do Labirinto/epidemiologia , Imagem por Ressonância Magnética/métodos , Masculino , Prevalência , Prognóstico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Doenças do Nervo Vestibulococlear/congênito , Doenças do Nervo Vestibulococlear/epidemiologia
7.
Pediatrics ; 146(1)2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32591436

RESUMO

Congenital cytomegalovirus (cCMV) is the most common congenital infection and is associated with sensorineural hearing loss, developmental delays, and visual impairment. The clinical presentation of cCMV is variable, and the majority (80%-90%) of newborns will never manifest any clinical symptoms. Given the clinical heterogeneity of cCMV infection, it is challenging to identify which newborns may benefit from testing. Recently, certain states have implemented a targeted screening program in which newborns who fail the newborn hearing screen are tested for cCMV. Clinicians and legislative bodies have been propelled into debates about the ethical and moral permissibility of a targeted cCMV screening approach. Those who oppose this screening approach describe undue burden on patients, families, and the health care system because the majority of newborns who fail the newborn hearing screen and have cCMV will not go on to have any sequelae related to cCMV, including hearing loss. However, those who support this screening approach cite the importance of early detection and ongoing surveillance for hearing loss and developmental delays in this high-risk group of newborns. This debate will be considered by experts in the field.


Assuntos
Infecções por Citomegalovirus/congênito , Diagnóstico Precoce , Perda Auditiva Neurossensorial/diagnóstico , Triagem Neonatal/métodos , Citomegalovirus , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Testes Auditivos/métodos , Humanos , Recém-Nascido
8.
J Laryngol Otol ; 134(5): 419-423, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32425141

RESUMO

OBJECTIVE: To assess the Framingham risk score as a prognostic tool for idiopathic sudden sensorineural hearing loss patients. METHODS: Medical records were reviewed for unilateral idiopathic sudden sensorineural hearing loss patients between January 2010 and October 2017. The 10-year risk of developing cardiovascular disease was calculated. Patients were subdivided into groups: group 1 - Framingham risk score of less than 10 per cent (n = 28); group 2 - score of 10 to less than 20 per cent (n = 6); and group 3 - score of 20 per cent or higher (n = 5). RESULTS: Initial pure tone average and Framingham risk score were not significantly associated (p = 0.32). Thirteen patients in group 1 recovered completely (46.4 per cent), but none in groups 2 and 3 showed complete recovery. Initial pure tone average and Framingham risk score were significantly associated in multivariable linear regression analysis (R2 = 0.36). The regression coefficient was 0.33 (p = 0.003) for initial pure tone average and -0.67 (p = 0.005) for Framingham risk score. CONCLUSION: Framingham risk score may be useful in predicting outcomes for idiopathic sudden sensorineural hearing loss patients, as those with a higher score showed poorer hearing recovery.


Assuntos
Perda Auditiva Neurossensorial/diagnóstico , Doença Aguda , Audiometria de Tons Puros , Doenças Cardiovasculares/diagnóstico , Feminino , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Recuperação de Função Fisiológica/fisiologia , Medição de Risco/métodos
9.
Hum Genet ; 139(10): 1315-1323, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32382995

RESUMO

We present detailed comparative analyses to assess population-level differences in patterns of genetic deafness between European/American and Japanese cohorts with non-syndromic hearing loss. One thousand eighty-three audiometric test results (921 European/American and 162 Japanese) from members of 168 families (48 European/American and 120 Japanese) with non-syndromic hearing loss secondary to pathogenic variants in one of three genes (KCNQ4, TECTA, WFS1) were studied. Audioprofile characteristics, specific mutation types, and protein domains were considered in the comparative analyses. Our findings support differences in audioprofiles driven by both mutation type (non-truncating vs. truncating) and ethnic background. The former finding confirms data that ascribe a phenotypic consequence to different mutation types in KCNQ4; the latter finding suggests that there are ethnic-specific effects (genetic and/or environmental) that impact gene-specific audioprofiles for TECTA and WFS1. Identifying the drivers of ethnic differences will refine our understanding of phenotype-genotype relationships and the biology of hearing and deafness.


Assuntos
Proteínas da Matriz Extracelular/genética , Genótipo , Perda Auditiva Neurossensorial/genética , Canais de Potássio KCNQ/genética , Proteínas de Membrana/genética , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Grupo com Ancestrais do Continente Asiático , Audiometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Grupo com Ancestrais do Continente Europeu , Feminino , Proteínas Ligadas por GPI/genética , Expressão Gênica , Estudos de Associação Genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/etnologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Estados Unidos
10.
Hum Genet ; 139(10): 1325-1343, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32399598

RESUMO

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular pathology is observed in some patients. There are six genes in which variants are known to cause Perrault syndrome; however, these explain only a minority of cases. We investigated the genetic cause of Perrault syndrome in seven affected individuals from five different families, successfully identifying the cause in four patients. This included previously reported and novel causative variants in known Perrault syndrome genes, CLPP and LARS2, involved in mitochondrial proteolysis and mitochondrial translation, respectively. For the first time, we show that pathogenic variants in PEX6 can present clinically as Perrault syndrome. PEX6 encodes a peroxisomal biogenesis factor, and we demonstrate evidence of peroxisomal dysfunction in patient serum. This study consolidates the clinical overlap between Perrault syndrome and peroxisomal disorders, and highlights the need to consider ovarian function in individuals with atypical/mild peroxisomal disorders. The remaining patients had variants in candidate genes such as TFAM, involved in mtDNA transcription, replication, and packaging, and GGPS1 involved in mevalonate/coenzyme Q10 biosynthesis and whose enzymatic product is required for mouse folliculogenesis. This genomic study highlights the diverse molecular landscape of this poorly understood syndrome.


Assuntos
ATPases Associadas a Diversas Atividades Celulares/genética , Aminoacil-tRNA Sintetases/genética , Proteínas de Ligação a DNA/genética , Dimetilaliltranstransferase/genética , Endopeptidase Clp/genética , Farnesiltranstransferase/genética , Predisposição Genética para Doença , Geraniltranstransferase/genética , Disgenesia Gonadal 46 XX/genética , Perda Auditiva Neurossensorial/genética , Proteínas Mitocondriais/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Sequência de Bases , Criança , DNA Mitocondrial/genética , Feminino , Expressão Gênica , Disgenesia Gonadal 46 XX/diagnóstico , Disgenesia Gonadal 46 XX/patologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Ovário/metabolismo , Ovário/patologia , Linhagem , Peroxissomos/metabolismo , Peroxissomos/patologia
11.
Am J Otolaryngol ; 41(4): 102503, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32402694

RESUMO

OBJECTIVES: Vertigo in sudden sensorineural hearing loss (SSNHL) is hypothesized as an extension of the disease caused by the anatomical proximity of the cochlea and vestibule. The present study aimed to demonstrate the association of vestibular function test (VFT) results with SSNHL disease severity and prognosis. MATERIALS AND METHODS: This study assessed clinical records of 263 SSNHL patients admitted to our hospital, between January 2010 and October 2017. Steroid treatment comprised high-dose intravenous dexamethasone (16 mg/d) or oral methylprednisolone (64 mg/d) for 4 days and tapered oral methylprednisolone for 8 days after discharge. Caloric tests were performed in all patients, and cervical vestibular-evoked myogenic potential (c-VEMP) and ocular VEMP (o-VEMP) tests were performed in 209 and 144 patients, respectively. RESULTS: Ninety six patients had vertigo, and caloric abnormalities were observed in 119 patients. Initial PTA in patients with vertigo were worse than in those without vertigo (63.0 dB vs 72.7 dB, P = .002). Initial PTA in patients with abnormal o-VEMP was worse than in those with normal o-VEMP (61.4 dB vs 73.0 dB, P = .004). PTA improvement after steroid treatment in patients with vertigo was lower than in those without vertigo (25.0 dB vs 20.9 dB, P = .028). PTA improvement after treatment in patients with abnormal caloric results was lower than in those with normal caloric results (26.0 dB vs 18.4 dB, P = .013). CONCLUSION: The functions of vestibular organs, particularly the utricle and lateral semicircular canal, are associated with disease severity and hearing outcome in SSNHL patients.


Assuntos
Perda Auditiva Neurossensorial/etiologia , Vertigem/etiologia , Vestíbulo do Labirinto/fisiopatologia , Administração Oftálmica , Adolescente , Adulto , Idoso , Testes Calóricos , Dexametasona/administração & dosagem , Potenciais Evocados , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Infusões Intravenosas , Masculino , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Vertigem/diagnóstico , Vertigem/tratamento farmacológico , Vertigem/fisiopatologia , Adulto Jovem
12.
Am J Otolaryngol ; 41(3): 102487, 2020.
Artigo em Inglês | MEDLINE | ID: covidwho-135731

RESUMO

Since late December 2019, a new type of coronavirus (CIVID-19) causing a cluster of respiratory infections was first identified in Wuhan-China. And it disseminated to all countries. Generally, COVID-19 cases have fever, cough, respiratory distress findings (dyspnoea, intercostal retraction, cyanosis etc.). In this paper, we have presented an adult otitis media case whom infected with COVID-19, but she have not any classical COVID-19 symptoms.


Assuntos
Antivirais/uso terapêutico , Doenças Assintomáticas , Betacoronavirus , Infecções por Coronavirus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Otite Média/diagnóstico , Pneumonia Viral/diagnóstico , Testes de Impedância Acústica/métodos , Audiometria/métodos , Infecções por Coronavirus/complicações , Infecções por Coronavirus/tratamento farmacológico , Dor de Orelha/diagnóstico , Dor de Orelha/etiologia , Feminino , Seguimentos , Perda Auditiva Neurossensorial/etiologia , Humanos , Otite Média/etiologia , Otite Média/terapia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/tratamento farmacológico , Radiografia Torácica/métodos , Medição de Risco , Resultado do Tratamento , Adulto Jovem
13.
Am J Otolaryngol ; 41(3): 102483, 2020.
Artigo em Inglês | MEDLINE | ID: covidwho-46506

RESUMO

OBJECTIVE: The current study compared the amplitude of transient evoked otoacoustic emissions (TEOAEs) and thresholds of pure-tone audiometry between asymptomatic COVID-19 PCR-positive cases and normal non-infected subjects. METHODS: Twenty cases who were confirmed positive for COVID-19 and had none of the known symptoms for this viral infection formed the test group. Their age ranged between 20 and 50 years to avoid any age-related hearing affection. Patients who had definite symptoms of COVID-19 infection as well as those who had a history of hearing loss or a history of any known cause of hearing loss were excluded from the examined sample. TEOAEs amplitude was measured for all participants. RESULTS: The high frequency pure-tone thresholds as well as the TEOAE amplitudes were significantly worse in the test group. CONCLUSIONS: COVID-19 infection could have deleterious effects on cochlear hair cell functions despite being asymptomatic. The mechanism of these effects requires further research.


Assuntos
Doenças Assintomáticas , Audiometria de Tons Puros/métodos , Limiar Auditivo/fisiologia , Infecções por Coronavirus/fisiopatologia , Perda Auditiva Neurossensorial/diagnóstico , Pneumonia Viral/fisiopatologia , Testes de Impedância Acústica/métodos , Adulto , Betacoronavirus , Estudos de Casos e Controles , Infecções por Coronavirus/epidemiologia , Surtos de Doenças , Feminino , Seguimentos , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/epidemiologia , Valores de Referência , Estudos Retrospectivos , Medição de Risco , Adulto Jovem
14.
BMC Med Genet ; 21(1): 68, 2020 03 31.
Artigo em Inglês | MEDLINE | ID: mdl-32234020

RESUMO

BACKGROUND: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males and females and gonadal dysfunction in females. Patients with Perrault syndrome may present early-onset cerebellar ataxia, whereas middle-age-onset cerebellar ataxia caused by TWNK variants is rare. CASE PRESENTATION: A Japanese female born to consanguineous parents presented hearing loss at age 48, a staggering gait at age 53, and numbness in her distal extremities at age 57. Neurological examination revealed sensorineural hearing loss, cerebellar ataxia, decreased deep tendon reflexes, and sensory disturbance in the distal extremities. Laboratory tests showed no abnormal findings other than a moderate elevation of pyruvate concentration levels. Brain magnetic resonance imaging revealed mild cerebellar atrophy. Using exome sequencing, we identified a homozygous TWNK variant (NM_021830: c.1358G>A, p.R453Q). CONCLUSIONS: TWNK variants could cause middle-age-onset cerebellar ataxia. Screening for TWNK variants should be considered in cases of cerebellar ataxia associated with deafness and/or peripheral neuropathy, even if the onset is not early.


Assuntos
Ataxia Cerebelar/genética , DNA Helicases/genética , Proteínas Mitocondriais/genética , Ataxia Cerebelar/complicações , Ataxia Cerebelar/diagnóstico , Consanguinidade , Feminino , Marcha Atáxica/complicações , Marcha Atáxica/diagnóstico , Marcha Atáxica/genética , Disgenesia Gonadal 46 XX/diagnóstico , Disgenesia Gonadal 46 XX/genética , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Homozigoto , Humanos , Japão , Transtornos de Início Tardio/diagnóstico , Transtornos de Início Tardio/genética , Pessoa de Meia-Idade , Mutação , Linhagem
15.
Gene ; 747: 144677, 2020 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-32304785

RESUMO

The progressive, late-onset, nonsyndromic, sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment globally, with presbycusis affecting greater than a third of individuals over the age of 65. The etiology underlying PNSHL include presbycusis, noise-induced hearing loss, drug ototoxicity, and delayed-onset autosomal dominant hearing loss (AD PNSHL). The objective of this article is to discuss the potential diagnostic and therapeutic applications of genomic medicine in PNSHL. Genomic factors contribute greatly to PNSHL. The heritability of presbycusis ranges from 25 to 75%. Current therapies for PNSHL range from sound amplification to cochlear implantation (CI). PNSHL is an excellent candidate for genomic medicine approaches as it is common, has well-described pathophysiology, has a wide time window for treatment, and is amenable to local gene therapy by currently utilized procedural approaches. AD PNSHL is especially suited to genomic medicine approaches that can disrupt the expression of an aberrant protein product. Gene therapy is emerging as a potential therapeutic strategy for the treatment of PNSHL. Viral gene delivery approaches have demonstrated promising results in human clinical trials for two inherited causes of blindness and are being used for PNSHL in animal models and a human trial. Non-viral gene therapy approaches are useful in situations where a transient biologic effect is needed or for delivery of genome editing reagents (such as CRISPR/Cas9) into the inner ear. Many gene therapy modalities that have proven efficacious in animal trials have potential to delay or prevent PNSHL in humans. The development of new treatment modalities for PNSHL will lead to improved quality of life of many affected individuals and their families.


Assuntos
Terapia Genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/terapia , Análise Custo-Benefício , Epigênese Genética , Técnicas de Transferência de Genes , Terapia Genética/economia , Perda Auditiva Neurossensorial/genética , Humanos
16.
HNO ; 68(5): 336-343, 2020 May.
Artigo em Alemão | MEDLINE | ID: mdl-32347381

RESUMO

BACKGROUND: Differential diagnosis of dizziness with hearing loss requires standardized procedures for detection and classification of rare congenital and acquired malformations of the petrous part of the temporal bone. OBJECTIVE: The aim of this study was to present the physiology and pathophysiology of endolymphatic and perilymphatic pressure regulation, diagnostic guidelines, and aspects of prognosis and treatment. MATERIALS AND METHODS: Relevant publications and guidelines were evaluated and own cases are reported. RESULTS: Enlarged vestibular aqueduct (EVA) is the most frequently observed malformation of the inner ear, which leads to increased internal hydrostatic pressure and cochleovestibular dysfunction. Non-syndromic and syndromic forms, e.g., Pendred syndrome, are known. Other pressure-relevant malformations are semicircular canal dehiscence syndrome (SCDS) and enlargement of the cochlear aqueduct. There are currently no treatment options for EVAS and enlarged cochlear aqueduct. Pendred syndrome generally requires treatment with cochlea implants (CI) in early childhood. Dizziness and autophony in patients with SCDS syndrome can be effectively treated by semicircular canal occlusion and coverage. CONCLUSION: Complaints in non-syndromic EVA and SCD syndrome are mainly caused by exposure of the inner ear to provoked and spontaneous pressure increases. Deafness and vestibular dysfunction in syndromic EVA (i.e., Pendred syndrome, branchiootorenal syndrome) are caused by malformation of the cochlea, genetic maldevelopment of the hair cells, and pressure effects.


Assuntos
Perda Auditiva Neurossensorial , Processo Mastoide , Aqueduto Vestibular/anormalidades , Diferenciação Celular , Criança , Pré-Escolar , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Processo Mastoide/patologia , Síndrome
17.
Ann Otol Rhinol Laryngol ; 129(8): 806-812, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32249593

RESUMO

OBJECTIVE: The aim of this study was to investigate the serum renin levels of patients with idiopathic sudden sensorineural hearing loss (ISSNHL). MATERIAL AND METHODS: Twenty-four patients with ISSNHL and 24 asymptomatic healthy volunteers were included in the study. Subjects underwent pure-tone audiometry and serum renin levels were measured. RESULTS: There were 14 women (mean age:42.35 ± 9.53) and 10 men (mean age:43.8 ± 6.87) in the patient group. There were 14 women (mean age:42.4 ± 4.7) and 10 men (mean age:41.4 ± 4.59) in the control group. ISSNHL was detected on the right side in 13 patients and on the left side in 11 patients. Serum renin levels of the patients and controls were 788.01 ± 327.8 and 282.37 ± 107.73 pg/mL, respectively. The serum renin levels were found to be significantly higher in the patient group compared to the control group (P ≤ .001). There was a statistically significant strong positive correlation between serum renin level and the severity of hearing loss (r = 0.77; P = .001). CONCLUSION: Serum renin levels of patients with ISSNHL were higher than controls. There was a statistically significant strong positive correlation between serum renin level and the severity of hearing loss.


Assuntos
Perda Auditiva Neurossensorial/sangue , Perda Auditiva Súbita/sangue , Audição/fisiologia , Renina/sangue , Adulto , Audiometria de Tons Puros/métodos , Biomarcadores/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Súbita/diagnóstico , Perda Auditiva Súbita/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
18.
BMC Med Genet ; 21(1): 79, 2020 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-32295532

RESUMO

BACKGROUND: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. CASE PRESENTATION: We report an unusual co-occurrence of two rare homozygous mutations in both the SLC26A3 and SLC26A4 genes, causing a rare combination of both CLD and PDS in two siblings. Although the clinical pictures were typical, the combined loss of these anion transporters might modulate the risk of renal injury associated with CLD. CONCLUSIONS: Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. Independent homozygous variants in the SLC26A3 and SLC26A4 genes cause CLD and PDS in siblings, shedding light on co-occurrence of rare recessive traits in the progeny of consanguineous couples.


Assuntos
Antiportadores de Cloreto-Bicarbonato/genética , Diarreia/congênito , Bócio Nodular/genética , Perda Auditiva Neurossensorial/genética , Erros Inatos do Metabolismo/genética , Transportadores de Sulfato/genética , Diarreia/diagnóstico , Diarreia/genética , Diarreia/patologia , Feminino , Genes Recessivos/genética , Testes Genéticos , Bócio Nodular/diagnóstico , Bócio Nodular/patologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/patologia , Mutação , Linhagem , Gravidez , Doenças Raras/diagnóstico , Doenças Raras/genética , Doenças Raras/patologia , Irmãos
19.
Am J Otolaryngol ; 41(3): 102483, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32307189

RESUMO

OBJECTIVE: The current study compared the amplitude of transient evoked otoacoustic emissions (TEOAEs) and thresholds of pure-tone audiometry between asymptomatic COVID-19 PCR-positive cases and normal non-infected subjects. METHODS: Twenty cases who were confirmed positive for COVID-19 and had none of the known symptoms for this viral infection formed the test group. Their age ranged between 20 and 50 years to avoid any age-related hearing affection. Patients who had definite symptoms of COVID-19 infection as well as those who had a history of hearing loss or a history of any known cause of hearing loss were excluded from the examined sample. TEOAEs amplitude was measured for all participants. RESULTS: The high frequency pure-tone thresholds as well as the TEOAE amplitudes were significantly worse in the test group. CONCLUSIONS: COVID-19 infection could have deleterious effects on cochlear hair cell functions despite being asymptomatic. The mechanism of these effects requires further research.


Assuntos
Doenças Assintomáticas , Audiometria de Tons Puros/métodos , Limiar Auditivo/fisiologia , Infecções por Coronavirus/fisiopatologia , Perda Auditiva Neurossensorial/diagnóstico , Pneumonia Viral/fisiopatologia , Testes de Impedância Acústica/métodos , Adulto , Betacoronavirus , Estudos de Casos e Controles , Técnicas de Laboratório Clínico , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Surtos de Doenças , Feminino , Seguimentos , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/epidemiologia , Valores de Referência , Estudos Retrospectivos , Medição de Risco , Adulto Jovem
20.
Am J Otolaryngol ; 41(3): 102487, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32336572

RESUMO

Since late December 2019, a new type of coronavirus (CIVID-19) causing a cluster of respiratory infections was first identified in Wuhan-China. And it disseminated to all countries. Generally, COVID-19 cases have fever, cough, respiratory distress findings (dyspnoea, intercostal retraction, cyanosis etc.). In this paper, we have presented an adult otitis media case whom infected with COVID-19, but she have not any classical COVID-19 symptoms.


Assuntos
Antivirais/uso terapêutico , Doenças Assintomáticas , Betacoronavirus , Infecções por Coronavirus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Otite Média/diagnóstico , Pneumonia Viral/diagnóstico , Testes de Impedância Acústica/métodos , Audiometria/métodos , Infecções por Coronavirus/complicações , Infecções por Coronavirus/tratamento farmacológico , Dor de Orelha/diagnóstico , Dor de Orelha/etiologia , Feminino , Seguimentos , Perda Auditiva Neurossensorial/etiologia , Humanos , Otite Média/etiologia , Otite Média/terapia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/tratamento farmacológico , Radiografia Torácica/métodos , Medição de Risco , Resultado do Tratamento , Adulto Jovem
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