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1.
Front Mol Neurosci ; 17: 1384764, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38742227

RESUMO

Inner ear malformations are predominantly attributed to developmental arrest during the embryonic stage of membranous labyrinth development. Due to the inherent difficulty in clinically assessing the status of the membranous labyrinth, these malformations are diagnosed with radiographic imaging, based on the morphological characteristics of the bony labyrinth. While extensive research has elucidated the intricacies of membranous labyrinth development in mouse models, comprehensive investigations into the developmental trajectory of the bony labyrinth, especially about its calcification process, have been notably lacking. One of the most prominent types of inner ear malformations is known as incomplete partition (IP), characterized by nearly normal external cochlear appearance but pronounced irregularities in the morphology of the modiolus and inter-scalar septa. IP type II (IP-II), also known as Mondini dysplasia, is generally accompanied by an enlargement of the vestibular aqueduct and is primarily attributed to mutations in the SLC26A4 gene. In the case of IP-II, the modiolus and inter-scalar septa of the cochlear apex are underdeveloped or missing, resulting in the manifestation of a cystic structure on radiographic imaging. In this overview, we not only explore the normal development of the bony labyrinth in mice but also present our observations on otolith mineralization. Furthermore, we investigated the specifics of bony labyrinth and otolith mineralization in Slc26a4-deficient mice, which served as an animal model for IP-II. We ensured that these findings promise to provide valuable insights for the establishment of therapeutic interventions, optimal timing, targeted sites, and preventive measures when considering the management of this condition.

2.
Acta Otolaryngol ; 144(2): 118-122, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38546378

RESUMO

BACKGROUND: Laser fenestration in stapedotomy has thermal effect to the vestibule. AIMS/OBJECTIVES: To evaluate the role of energy density (fluence) in the severity of postoperative vestibular symptoms. MATERIALS AND METHODS: The retrospective chart-review study included 84 patients with otosclerosis that underwent primary laser stapedotomy. Surgical outcomes, including nystagmus, and subjective vestibular symptoms during one-month follow-up, were compared between potassium titanyl phosphate (KTP) and CO2 laser. According to this study and literature, we assessed the relationship between laser parameters and the incidence of persistent vestibular symptoms lasting more than one week after surgery. RESULTS: The KTP and CO2 laser group included 48 and 36 patients, respectively. Fluence was different between the KTP (637 J/cm2) and CO2 (141 J/cm2) laser (p < .001). The KTP group showed gradual decrease in dizziness during one-month observation period, while the CO2 group exhibited a steep recovery curve in the first postoperative week (9 and 4 d of duration, respectively). The incidence of persistent vestibular symptoms was correlated with both fluence (r = 0.80, p = .01) and spot size (r = -0.74, p = .01). CONCLUSIONS AND SIGNIFICANCE: Appropriate setting of parameters with lower fluence is desirable for the efficiency and safety of laser stapedotomy.Abbreviations: ABG: air-bone gap; SD: standard deviation.


Assuntos
Tontura , Lasers de Gás , Otosclerose , Cirurgia do Estribo , Humanos , Cirurgia do Estribo/métodos , Cirurgia do Estribo/efeitos adversos , Masculino , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Otosclerose/cirurgia , Adulto , Tontura/etiologia , Lasers de Gás/uso terapêutico , Lasers de Estado Sólido/uso terapêutico , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Terapia a Laser/efeitos adversos , Terapia a Laser/métodos , Idoso
3.
Auris Nasus Larynx ; 47(4): 493-526, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32576390

RESUMO

OBJECTIVE: "Clinical Practice Guidelines for the Diagnosis and Management of Acute Otitis Media in Children-2018 update (2018 Guidelines)" aim to provide appropriate recommendations about the diagnosis and management of children with acute otitis media (AOM), including recurrent acute otitis media (recurrent AOM), in children under 15 years of age. These evidence-based recommendations were created with the consensus of the subcommittee members, taking into consideration unique characteristics of bacteriology and antimicrobial susceptibilities of AOM pathogens in Japan, as well as global advances in vaccines. METHODS: The subcommittee re-evaluated key clinical issues based on SCOPE (a master plan of the guidelines) and created clinical questions (CQ) about the diagnosis and management of AOM patients. A literature search of the publications from 2013 to 2016 were added to the Guidelines 2013, not only to assess the evidence on the effectiveness of vaccines, but also to provide up to date information of the bacteriology and antimicrobial susceptibilities of AOM causative pathogens in Japan. RESULTS: We have proposed guidelines for disease severity-based management of AOM patients, after classifying AOM severity into mild, moderate, and severe, based on age, clinical manifestations, and otoscopic findings. CONCLUSIONS: Precise otoscopic findings are essential for judging AOM severity, which can lead to appropriate management of AOM patients.


Assuntos
Antibacterianos/uso terapêutico , Otite Média/diagnóstico , Otite Média/terapia , Guias de Prática Clínica como Assunto , Adolescente , Criança , Pré-Escolar , Gerenciamento Clínico , Resistência Microbiana a Medicamentos , Humanos , Lactente , Recém-Nascido , Japão , Otoscopia , Recidiva , Índice de Gravidade de Doença , Conduta Expectante
4.
Braz. j. otorhinolaryngol. (Impr.) ; Braz. j. otorhinolaryngol. (Impr.);85(6): 760-765, Nov.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1055517

RESUMO

Abstract Introduction: Chronic rhinosinusitis with nasal polyps is a heterogeneous disease and appropriate diagnostic algorithms in individual cases are necessary for effective medical treatment. Objective: The purpose of this study was to clarify the relationship between the pendrin expression of nasal polyps and clinical and pathological characteristic features of eosinophilic chronic rhinosinusitis. Methods: A total of 68 patients were classified into eosinophilic chronic rhinosinusitis or non-eosinophilic chronic rhinosinusitis groups according to the degree of eosinophilic infiltration into the nasal polyps. Clinical, hematological, and immunohistochemical analyses were performed and statistically compared between both groups. Results: Thirty-eight were classified into eosinophilic chronic rhinosinusitis and 30 into non-eosinophilic chronic rhinosinusitis groups. There were no significant differences in age distribution, sex ratio, prevalence of asthma, or any other complications between the groups. The mean Lund-Mackay score and the number of serum eosinophils was significantly higher in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis groups. The pendrin expression was more frequently detected in the epithelial surface layer of nasal polyps in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis groups. In addition, mucin 5AC was more widely expressed in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis. Conclusion: Increased expression of pendrin and mucin 5AC in the nasal polyps would be associated with development of eosinophilic chronic rhinosinusitis. This finding could allow the development of a novel therapeutic agent targeted specifically to patients with eosinophilic chronic rhinosinusitis.


Resumo Introdução: A rinossinusite crônica com pólipos nasais é uma doença heterogênea e algoritmos diagnósticos apropriados em casos individuais são necessários para um tratamento médico eficaz. Objetivo: O objetivo deste estudo foi esclarecer a relação entre a expressão da pendrina de pólipos nasais e propriedades clínicas e patológicas características da rinossinusite crônica eosinofílica. Método: Um total de 68 pacientes foram classificados como tendo rinossinusite crônica eosinofílica ou rinossinusite crônica não eosinofílica de acordo com o grau de infiltração eosinofílica nos pólipos nasais. Análises clínicas, hematológicas e imunohistoquímicas foram realizadas e comparadas estatisticamente entre os dois grupos. Resultados: Entre os pacientes, 38 apresentavam rinossinusite crônica eosinofílica e constituíram o grupo 1; 30 tinham rinossinusite crônica não eosinofílica e constituíram o grupo 2. Não houve diferenças significantes na distribuição etária, razão entre os sexos, prevalência de asma ou qualquer outra complicação entre os grupos. O escore médio de Lund-Mackay e o número de eosinófilos séricos foram significantemente maiores no grupo com rinossinusite crônica eosinofílica do que no grupo com rinossinusite crônica não eosinofílica. A expressão da pendrina foi mais frequentemente detectada na camada epitelial superficial dos pólipos nasais na rinossinusite crônica eosinofílica do que no grupo com rinossinusite crônica não eosinofílica. Além disso, mucina 5AC foi mais amplamente expressa na rinossinusite crônica eosinofílica do que na rinossinusite crônica não eosinofílica. Conclusão: O aumento da expressão da pendrina e mucina 5AC nos pólipos nasais estaria associado ao desenvolvimento de rinossinusite crônica eosinofílica. Esse achado pode permitir o desenvolvimento de um novo agente terapêutico voltado especificamente para pacientes com rinossinusite crônica eosinofílica.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Sinusite/metabolismo , Rinite/metabolismo , Pólipos Nasais/metabolismo , Eosinofilia/metabolismo , Transportadores de Sulfato/metabolismo , Asma/etiologia , RNA Mensageiro , Doença Crônica , Citocinas/metabolismo , Eosinofilia/etiologia
5.
Hum Genome Var ; 6: 41, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31645979

RESUMO

Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically for CNV detection, and droplet digital PCR (ddPCR) provides highly precise absolute quantification of DNA copy number. We aimed to validate the feasibility and efficiency of ddPCR in combination with long-range PCR (LR-PCR) in identifying CNVs and mutations in STRC. Additionally, we determined the frequency of CNVs and mutations in STRC in Japanese patients with mild-to-moderate hearing loss. We evaluated 84 unrelated Japanese patients with mild-to-moderate bilateral idiopathic or autosomal recessive nonsyndromic sensorineural hearing loss. The ratio of STRC copy number to the copy number of the internal control RPP30 ranged from 0.949 to 1.009 (0.989 ± 0.017) in 77 patients; it ranged from 0.484 to 0.538 (0.509 ± 0.024) in five patients and was 0.000 in two patients, indicating heterozygous and homozygous deletions, respectively. The copy number deletion prevalence rates were 7.7% and 0.9% in the patients and healthy controls, respectively. In combination with LR-PCR, ddPCR revealed that at least three patients (3.6%) had STRC-related hearing loss. Detecting STRC CNVs by ddPCR was rapid, precise, and cost-effective and facilitated the identification of STRC CNVs.

6.
Braz J Otorhinolaryngol ; 85(6): 760-765, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30126769

RESUMO

INTRODUCTION: Chronic rhinosinusitis with nasal polyps is a heterogeneous disease and appropriate diagnostic algorithms in individual cases are necessary for effective medical treatment. OBJECTIVE: The purpose of this study was to clarify the relationship between the pendrin expression of nasal polyps and clinical and pathological characteristic features of eosinophilic chronic rhinosinusitis. METHODS: A total of 68 patients were classified into eosinophilic chronic rhinosinusitis or non-eosinophilic chronic rhinosinusitis groups according to the degree of eosinophilic infiltration into the nasal polyps. Clinical, hematological, and immunohistochemical analyses were performed and statistically compared between both groups. RESULTS: Thirty-eight were classified into eosinophilic chronic rhinosinusitis and 30 into non-eosinophilic chronic rhinosinusitis groups. There were no significant differences in age distribution, sex ratio, prevalence of asthma, or any other complications between the groups. The mean Lund-Mackay score and the number of serum eosinophils was significantly higher in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis groups. The pendrin expression was more frequently detected in the epithelial surface layer of nasal polyps in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis groups. In addition, mucin 5AC was more widely expressed in the eosinophilic chronic rhinosinusitis than in the non-eosinophilic chronic rhinosinusitis. CONCLUSION: Increased expression of pendrin and mucin 5AC in the nasal polyps would be associated with development of eosinophilic chronic rhinosinusitis. This finding could allow the development of a novel therapeutic agent targeted specifically to patients with eosinophilic chronic rhinosinusitis.


Assuntos
Eosinófilos/metabolismo , Pólipos Nasais/metabolismo , Rinite/metabolismo , Sinusite/metabolismo , Transportadores de Sulfato/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Asma/etiologia , Doença Crônica , Citocinas/metabolismo , Eosinofilia/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RNA Mensageiro , Adulto Jovem
7.
J Med Dent Sci ; 64(1): 19-26, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28367943

RESUMO

Patients with unilateral sensorineural hearing loss (UHL) often complain of hearing difficulties in noisy environments. To clarify this, we compared brain activation in patients with UHL with that of healthy participants during speech perception in a noisy environment, using functional magnetic resonance imaging (fMRI). A pure tone of 1 kHz, or 14 monosyllabic speech sounds at 65‒70 dB accompanied by MRI scan noise at 75 dB, were presented to both ears for 1 second each and participants were instructed to press a button when they could hear the pure tone or speech sound. Based on the activation areas of healthy participants, the primary auditory cortex, the anterior auditory association areas, and the posterior auditory association areas were set as regions of interest (ROI). In each of these regions, we compared brain activity between healthy participants and patients with UHL. The results revealed that patients with right-side UHL showed different brain activity in the right posterior auditory area during perception of pure tones versus monosyllables. Clinically, left-side and right-side UHL are not presently differentiated and are similarly diagnosed and treated; however, the results of this study suggest that a lateralityspecific treatment should be chosen.


Assuntos
Percepção Auditiva , Mapeamento Encefálico , Encéfalo/fisiopatologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Unilateral/complicações , Ruído/efeitos adversos , Estimulação Acústica , Adulto , Idoso , Córtex Auditivo , Encéfalo/diagnóstico por imagem , Orelha , Meio Ambiente , Feminino , Audição , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Unilateral/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Percepção da Fala
8.
Heart Vessels ; 32(9): 1109-1116, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28324126

RESUMO

Coronary artery calcification (CAC), cardiac valve calcification (CVC) and left ventricular hypertrophy (LVH) are frequently observed in chronic kidney disease (CKD) patients. These abnormalities significantly affect morbidity and mortality. The aim of this study was to investigate the relationship between CAC, CVC and LVH in CKD patients. This study included 96 patients who were hospitalized and initiated hemodialysis between December 2011 and July 2014 at our five institutions. Multi-detector computed tomography for the quantification of CAC using the Agatston score and transthoracic echocardiography for assessing CVC and LVH were performed for all patients included in the study. We semi-quantitatively evaluated the severity of CVC as a valvular calcification score. We also assessed the presence of LVH in patients with CAC and/or CVC. Among the 96 patients, the prevalence of CAC was 81.3% and CVC was 65.0%. The severity of CAC was closely and significantly associated with that of CVC. The percentage of patients with LVH was the greatest in those with both severe CAC and CVC. CAC was significantly more severe in patients with concentric hypertrophy compared to those with normal geometry. At the initiation of hemodialysis, most CKD patients had CAC, CVC and LVH. In addition, cardiac calcification was significantly associated with LVH in these patients.


Assuntos
Calcinose/epidemiologia , Cardiomiopatias/epidemiologia , Vasos Coronários/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/epidemiologia , Falência Renal Crônica/complicações , Diálise Renal , Medição de Risco , Idoso , Calcinose/diagnóstico , Calcinose/etiologia , Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Progressão da Doença , Ecocardiografia , Feminino , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/etiologia , Incidência , Japão/epidemiologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores , Prevalência , Prognóstico , Estudos Retrospectivos , Fatores de Risco
9.
Auris Nasus Larynx ; 44(4): 390-397, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27810126

RESUMO

OBJECTIVE: Recurrent acute otitis media (AOM) in young children is rapidly increasing worldwide. Repeated antibiotic use leads to antibiotic-resistant pathogen development. Complementary and alternative medicine approaches have been suggested as a supplemental treatment option to conventional antimicrobial medicine. This randomized, parallel-group, open-label, non-herbal medicine controlled trial assessed the efficacy of a traditional Japanese herbal medicine, juzen-taiho-to (JTT) for AOM prevention in otitis-prone children. METHODS: Children prone to recurrent AOM aged 6-48 months were recruited from 26 otolaryngology clinics in Japan and received conventional AOM treatment based on Japanese guidelines with or without 2 daily oral doses of JTT (0.10-0.25g/kg/day). The mean number of AOM episodes, coryza episodes, and duration of total antibiotic administration per month were compared during 3-month intervention. RESULTS: At least one episode of AOM was diagnosed in 71% of JTT-group and 92% of control participants during follow-up. JTT administration reduced the frequency of AOM episodes by 57% compared with children who received conventional treatment alone (0.61±0.54 vs. 1.07±0.72 AOM instances/month; P=0.005) and also significantly decreased number of coryza episodes (P=0.015) and total antibiotic administration (P=0.024). CONCLUSIONS: This is the first report of recurrent AOM prevention by herbal medication. JTT appears to effectively prevent recurrent AOM in children. Subsequent double-blind studies are needed to confirm the beneficial effects of JTT on recurrent AOM and upper respiratory tract infections.


Assuntos
Medicamentos de Ervas Chinesas/uso terapêutico , Mitógenos/uso terapêutico , Otite Média/prevenção & controle , Doença Aguda , Antibacterianos/uso terapêutico , Pré-Escolar , Feminino , Humanos , Lactente , Japão , Masculino , Ventilação da Orelha Média , Otite Média/terapia , Recidiva
10.
Auris Nasus Larynx ; 44(1): 33-39, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27160786

RESUMO

OBJECTIVE: To document the clinical features and associated pure-tone audiometry data in patients with enlargement of the vestibular aqueduct (EVA), and to identify risk factors for fluctuating hearing loss (HL) and vertigo/dizziness in EVA patients. METHODS: In this nationwide survey in Japan, a first survey sheet was mailed to 662 board-certified otolaryngology departments to identify the ones treating EVA patients. A second survey sheet, which contained solicited clinical information and the results of the hearing tests, was mailed to all facilities that reported treating EVA cases. We analyzed clinical information, including age at the time of the most recent evaluation, gender, EVA side, age at onset, initial symptoms, precipitating factors, and etiology from survey responses, and assessed 4-frequency (500, 1000, 2000, and 4000Hz) pure-tone average (PTA) from accompanying pure-tone audiometry data. A multivariate logistic regression analysis was utilized to identify the possible risk factors for fluctuating HL and vertigo/dizziness. RESULTS: In total, 513 hospitals (response rate, 77.5%) responded to the first survey, and 113 reported treating patients with EVA. Seventy-nine out of the 113 hospitals (response rate 69.9%) responded to the second survey, and the data of 380 EVA patients were registered and analyzed. Of the 380 patients, 221 (58.2%) were female, suggesting female preponderance. The patient age ranged from 0 to 73 years (mean, 16.7 years; median, 13 years; interquartile range, 6-24 years). EVA was bilateral in 91.1% of the patients (346/380). The most prevalent initial symptom was HL (341/380), followed by vertigo/dizziness/imbalance (34/380). Sudden HL occurred secondary to head trauma in 5.3% of the patients and upper respiratory infection in 5.0%. Pure-tone audiometry showed profound HL (PTA >91dB) in 316 (52.0%) of the 608 ears in the 304 patients tested, and asymmetric HL, defined as >10dB, in 147 (48.4%) of the 304 patients. The mean PTA was 83.7dB (median, 91.3dB; interquartile range, 71.3-103.8dB), and the severity in PTA did not correlate with age. Multivariate logistic regression identified age ≥10 years (compared to age of 0-9 years), bilateral HL (compared to unilateral HL/normal hearing), a history of head trauma, and Pendred syndrome (compared to the other EVA-associated disorders) as significant risk factors for fluctuating HL and/or vertigo/dizziness. CONCLUSION: The present nationwide survey of 380 EVA patients provided a more precise description of the clinical features, including risk factors for fluctuating HL and vertigo/dizziness.


Assuntos
Tontura/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Súbita/epidemiologia , Vertigem/epidemiologia , Aqueduto Vestibular/anormalidades , Adolescente , Adulto , Idoso , Audiometria de Tons Puros , Criança , Pré-Escolar , Traumatismos Craniocerebrais/epidemiologia , Feminino , Bócio Nodular/epidemiologia , Perda Auditiva Bilateral/epidemiologia , Perda Auditiva Bilateral/fisiopatologia , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Súbita/fisiopatologia , Perda Auditiva Unilateral/epidemiologia , Perda Auditiva Unilateral/fisiopatologia , Humanos , Lactente , Recém-Nascido , Japão/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Fatores de Risco , Aqueduto Vestibular/fisiopatologia , Adulto Jovem
11.
Nihon Jibiinkoka Gakkai Kaiho ; 119(2): 110-7, 2016 Feb.
Artigo em Japonês | MEDLINE | ID: mdl-27149708

RESUMO

Anti-neutrophil cytoplasmic antibody (ANCA) -associated vasculitides (AAVs) include microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA) and eosinophilic granulomatosis with polyangiitis (EGPA), the incidences of which are reported to be increasing in Japan. We reviewed the clinical records of 20 cases with systemic AAVs (five cases with MPA, nine cases with GPA, and six cases with EGPA), who visited our otolaryngology department with otological symptoms from 2004 to 2014, and compared the otological characteristics among the diseases. Otologic symptoms appeared as an initial symptom(s) in 40% of MPA cases, 56% of GPA cases, and 83% of EGPA cases. GPA and EGPA cases showed a variety of symptoms such as otalgia, otorrhea, hearing loss, ear fullness, tinnitus and dizziness, while MPA cases showed only hearing loss and ear fullness, but otalgia or otorrhea. AAVs and otitis media associated with ANCA vasculitis (OMAAV) are usually diagnosed shortly after the appearance of otological symptoms in GPA cases, while the final diagnosis is delayed in EGPA cases. Furthermore, the diagnosis of OMAAV was made after the diagnosis of AAV in most cases of EGPA. More than half of MPA cases did not meet the diagnostic. criteria for OMAAV. It is noteworthy that in a significant number of AAV patients with ear disease, otological symptoms are supposed to appear as an initial symptom(s). Therefore, otolaryngologists have a major role to achieve early diagnosis of AAV. The patients with adult-onset inflammation of the middle ear, inner ear or both should undergo careful examinations, and they should be closely followed even if the diagnosis is uncertain.


Assuntos
Anticorpos Anticitoplasma de Neutrófilos/imunologia , Granulomatose com Poliangiite/complicações , Perda Auditiva/etiologia , Poliangiite Microscópica/complicações , Idoso , Eosinófilos , Perda Auditiva/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade
12.
Hum Mol Genet ; 25(10): 2045-2059, 2016 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-26936824

RESUMO

Most clinical reports have suggested that patients with congenital profound hearing loss have recessive mutations in deafness genes, whereas dominant alleles are associated with progressive hearing loss (PHL). Jackson shaker (Ush1gjs) is a mouse model of recessive deafness that exhibits congenital profound deafness caused by the homozygous mutation of Ush1g/Sans on chromosome 11. We found that C57BL/6J-Ush1gjs/+ heterozygous mice exhibited early-onset PHL (ePHL) accompanied by progressive degeneration of stereocilia in the cochlear outer hair cells. Interestingly, ePHL did not develop in mutant mice with the C3H/HeN background, thus suggesting that other genetic factors are required for ePHL development. Therefore, we performed classical genetic analyses and found that the occurrence of ePHL in Ush1gjs/+ mice was associated with an interval in chromosome 10 that contains the cadherin 23 gene (Cdh23), which is also responsible for human deafness. To confirm this mutation effect, we generated C57BL/6J-Ush1gjs/+, Cdh23c.753A/G double-heterozygous mice by using the CRISPR/Cas9-mediated Cdh23c.753A>G knock-in method. The Cdh23c.753A/G mice harbored a one-base substitution (A for G), and the homozygous A allele caused moderate hearing loss with aging. Analyses revealed the complete recovery of ePHL and stereocilia degeneration in C57BL/6J-Ush1gjs/+ mice. These results clearly show that the development of ePHL requires at least two mutant alleles of the Ush1g and Cdh23 genes. Our results also suggest that because the SANS and CDH23 proteins form a complex in the stereocilia, the interaction between these proteins may play key roles in the maintenance of stereocilia and the prevention of ePHL.


Assuntos
Caderinas/genética , Perda Auditiva/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Alelos , Sequência de Aminoácidos/genética , Animais , Cromossomos Humanos Par 10/genética , Modelos Animais de Doenças , Células Ciliadas Auditivas Externas/patologia , Perda Auditiva/patologia , Heterozigoto , Homozigoto , Humanos , Camundongos , Estereocílios/patologia
13.
Acta Otolaryngol ; 136(5): 465-9, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26882452

RESUMO

CONCLUSION: The results suggest that SOD1 rs4998557 could be associated with susceptibility to SSNHL in the Japanese population. OBJECTIVES: To assess the gene association with sudden sensorineural hearing loss (SSNHL). METHODS: A two-stage case control study was conducted to explore the relationship of the candidate genes to SSNHL. The 192 gene samples from SSNHL patients registered in the intractable inner ear disease gene bank were enrolled. As the candidate genes, 39 SNPs from 31 genes were selected for the first stage study. The second stage study examined whether the SOD1 gene polymorphisms, defined by significant differences between cases and controls in the first stage study, are associated with SSNHL. RESULTS: Significant differences were observed in four SNPs from three genes, Glutathione-S-transferase pai 1 (GSTP1), proteine kinase C heta (PRKCH), and superoxide dismutase 1 (SOD1), in terms of allele frequency between SSNHL patients and HapMap controls. In the SOD1 gene, a significant difference was observed in the dominant model study of the SNP rs4998557 in the second stage study. Furthermore, as a result of dividing SSNHL patients based on the clinical data, the difference was more apparent in the case of the over 60 dB group and the tinnitus-positive group.


Assuntos
Perda Auditiva Neurossensorial/genética , Perda Auditiva Súbita/genética , Superóxido Dismutase-1/genética , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Genótipo , Glutationa S-Transferase pi/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
14.
Intern Med ; 55(3): 311-3, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26831031

RESUMO

A 76-year-old woman complained of vertigo for two years. She manifested left deafness, loss of caloric response, and right-beaten nystagmus. An imaging study revealed a tumorous lesion located from the clivus to the left temporal bone with inner ear destruction. A tumor biopsy was performed endonasally and the patient was diagnosed with adenocarcinoma mimicking breast cancer. She had undergone surgery for breast cancer 33 years previously, and the current biopsy specimen showed identical pathology. Breast cancer may metastasize to the skull base; however, metastasis 33 years after surgery is very rare.


Assuntos
Adenocarcinoma/secundário , Neoplasias da Mama/patologia , Nistagmo Patológico/etiologia , Neoplasias Cranianas/secundário , Osso Temporal/patologia , Vertigem/etiologia , Adenocarcinoma/complicações , Adenocarcinoma/terapia , Idoso , Antineoplásicos Hormonais/uso terapêutico , Biópsia , Neoplasias da Mama/complicações , Neoplasias da Mama/terapia , Feminino , Humanos , Nistagmo Patológico/patologia , Indução de Remissão , Neoplasias Cranianas/complicações , Neoplasias Cranianas/terapia , Tamoxifeno/uso terapêutico , Resultado do Tratamento , Vertigem/patologia
15.
Auris Nasus Larynx ; 43(5): 495-500, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26739945

RESUMO

OBJECTIVE: To assess possible delayed recovery of the maximum speech discrimination score (SDS) when the audiometric threshold ceases to change. METHODS: We retrospectively examined 20 patients with idiopathic sudden sensorineural hearing loss (ISSNHL) (gender: 9 males and 11 females, age: 24-71 years). The findings of pure-tone average (PTA), maximum SDS, auditory brainstem responses (ABRs), and tinnitus handicap inventory (THI) were compared among the three periods of 1-3 months, 6-8 months, and 11-13 months after ISSNHL onset. RESULTS: No significant differences were noted in PTA, whereas an increase of greater than or equal to 10% in maximum SDS was recognized in 9 patients (45%) from the period of 1-3 months to the period of 11-13 months. Four of the 9 patients showed 20% or more recovery of maximum SDS. No significant differences were observed in the interpeak latency difference between waves I and V and the interaural latency difference of wave V in ABRs, whereas an improvement in the THI grade was recognized in 11 patients (55%) from the period of 1-3 months to the period of 11-13 months. CONCLUSION: The present study suggested the incidence of maximum SDS restoration over 1 year after ISSNHL onset. These findings may be because of the effects of auditory plasticity via the central auditory pathway.


Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva Súbita/fisiopatologia , Recuperação de Função Fisiológica , Percepção da Fala , Zumbido/fisiopatologia , Trifosfato de Adenosina/uso terapêutico , Corticosteroides/uso terapêutico , Adulto , Idoso , Audiometria de Tons Puros , Dexametasona/uso terapêutico , Feminino , Perda Auditiva Súbita/terapia , Humanos , Oxigenoterapia Hiperbárica , Injeção Intratimpânica , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Testes de Discriminação da Fala , Inquéritos e Questionários , Fatores de Tempo , Vitamina B 12/uso terapêutico , Complexo Vitamínico B/uso terapêutico , Adulto Jovem
16.
Nihon Jibiinkoka Gakkai Kaiho ; 119(11): 1379-87, 2016 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-30035515

RESUMO

Pediatric deep neck abscesses are a relatively rare and can lead to critical or life-threatening situations. However, the clinical characteristics of pediatric deep neck abscesses are not fully understood in Japan. We conducted a retrospective study of the clinical characteristics of children presenting with pediatric deep neck abscesses at our hospital. All pediatric patients were diagnosed with deep neck abscesses on the basis of the clinical findings and computed tomography (CT) scanning of the neck between April 2009 and March 2014. The incidence, initial examining department, sex, age, presenting signs and symptoms, physical findings, duration between onset and admission, timing of CT scanning, abscess location, causative organism, and method of treatment were determined from the medical records.  We identified a total of 20 pediatric patients with deep neck abscesses, with a mean incidence of 4.0±1.9 cases per year. Pediatric deep neck abscesses were more common during winter and spring. Most patients initially presented to the pediatric department before consulting an otolaryngologist. Fourteen (70%) patients were male and six (30%) were female, with no obvious peak age of onset. The mean duration between onset and admission was 7.2±3.9 days. The mean timing of CT scanning was 8.1±3.6 days after onset. The most commonly involved area was the retropharyngeal space in nine (45%) and the retro-cervical space in eight (40%) patients. The most frequent causative organism was Staphylococcus aureus (20%), with no cases of antibiotic-resistant bacteria infection observed. Majority of the children were initially managed with conservative treatment. Five patients who failed to improve within 48 h of treatment subsequently underwent surgical drainage. No significant complications such as descending mediastinitis and septic shock were observed in any of the patients.


Assuntos
Abscesso , Pescoço , Doenças Faríngeas , Abscesso/tratamento farmacológico , Abscesso/epidemiologia , Abscesso/cirurgia , Adolescente , Criança , Pré-Escolar , Drenagem , Feminino , Humanos , Lactente , Masculino , Doenças Faríngeas/tratamento farmacológico , Doenças Faríngeas/epidemiologia , Doenças Faríngeas/cirurgia , Estações do Ano , Resultado do Tratamento
17.
Auris Nasus Larynx ; 43(3): 350-2, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26602434

RESUMO

We report the case of an 84-year-old female presenting with an aberrant ICA with cerebral air embolization caused by Eustachian tube air inflation (ETAI). High pressure of air inflation developed because of an aberrant ICA blocking the tympanic orifice of the Eustachian tube, with release of the high-pressure air into the aberrant ICA. It must be kept in mind that complications may occur not only during transtympanic treatment, but also in any treatment, such as ETAI, in aberrant ICA cases.


Assuntos
Artéria Carótida Interna/anormalidades , Embolia Aérea/etiologia , Tuba Auditiva/cirurgia , Embolia Intracraniana/etiologia , Procedimentos Cirúrgicos Otológicos/efeitos adversos , Osso Temporal/anormalidades , Zumbido/cirurgia , Idoso de 80 Anos ou mais , Evolução Fatal , Feminino , Humanos , Tomografia Computadorizada por Raios X
18.
Eur Arch Otorhinolaryngol ; 273(9): 2487-93, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26650550

RESUMO

The objective of the present study was to clarify the features of otological complications for hyperbaric oxygen therapy (HBOT) and the risk factors for these complications. We enrolled 1115 patients (776 males and 339 females; age 5-89 years) who underwent HBOT. All otological symptoms experienced during HBOT sessions were evaluated, and risk factors were analysed using multivariate logistic regression analysis. Otoscopic findings and interventions for otological complications were assessed in 58 symptomatic patients who visited the Otolaryngology Department. Otological symptoms were experienced by 165 (14.8 %) of the 1115 patients. The multivariate logistic regression analysis identified ages of >60 years and female sex as independent risk factors, whereas patients with sports injuries were at lower risk than those with other primary diseases, except for severe infectious disease. Eighty-two patients (49.7 %) suffered from symptoms at the first HBOT session. The most prevalent symptoms were otalgia (157/165), followed by ear fullness (13/165), hearing loss (12/165) and tinnitus (3/165). One patient experienced vertigo and deterioration of the bone-conduction pure-tone thresholds, suggesting inner ear barotrauma. In 116 ears of the 58 symptomatic patients, abnormal otoscopic findings were recognized in 58 ears (50.0 %). Twenty-seven of the 58 ears required myringotomy or tube insertion, and HBOT was stopped in eight ears in four patients. Of the remaining 58 ears with normal otoscopic findings, 51 received no treatment. Physicians should be aware of both middle and inner ear barotrauma as potential complications of HBOT.


Assuntos
Otopatias/etiologia , Oxigenoterapia Hiperbárica/efeitos adversos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Dor de Orelha/etiologia , Feminino , Perda Auditiva/etiologia , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Ventilação da Orelha Média/estatística & dados numéricos , Otoscopia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Zumbido/etiologia , Vertigem/etiologia , Adulto Jovem
19.
Auris Nasus Larynx ; 43(4): 382-6, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26456143

RESUMO

OBJECTIVE: To characterize the long-term outcomes of meatoplasty using our new technique, inferiorly based retroauricular island pedicle flap for external auditory canal (EAC) stenosis. METHODS: A long-term clinical analysis of meatoplasty for nine patients (mean age, 33 years; age range, 8-64 years) with stenotic EAC was performed. The follow-up period after meatoplasty ranged from 5 years to 14 years, with a mean duration of 8.4 years. We compared preoperative and postoperative otoscopic findings, high-resolution computed tomographic (CT) images of the EAC, and hearing levels. RESULTS: Otoscopic examinations demonstrated widened EAC in eight of the nine patients. There was a significant increase in the size of the EAC on postoperative CT examinations when compared with the preoperative state. The hearing outcome in all patients was variable. The postoperative air-bone gap (ABG) was closed to 10dB or less in two cases, while the other seven cases showed ABG ranging from 15.0dB to 57.5dB. CONCLUSIONS: We performed meatoplasty using inferiorly based retroauricular island pedicle flap for nine patients with EAC stenosis and eight of the nine patients demonstrated satisfactory patent EAC during a mean follow-up of 8.4 years.


Assuntos
Meato Acústico Externo/cirurgia , Otopatias/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Adulto , Audiometria de Tons Puros , Limiar Auditivo , Criança , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/fisiopatologia , Constrição Patológica/cirurgia , Meato Acústico Externo/diagnóstico por imagem , Otopatias/diagnóstico por imagem , Otopatias/fisiopatologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Otoscopia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
20.
Ear Nose Throat J ; 94(12): E7-9, 2015 12.
Artigo em Inglês | MEDLINE | ID: mdl-26670765

RESUMO

Factitious disorders are characterized by intentionally abnormal physical and/or psychological behavior, and affected patients often make up their symptoms and clinical histories. The most serious and chronic type of factitious disorder is Munchausen syndrome. We report the case of a 24-year-old woman with a 2-year history of sensorineural hearing loss (SNHL) who later confessed to feigning her hearing loss. She was eventually diagnosed with a factitious disorder. During those 2 years, she was able to induce her SNHL by exposing herself to excessive noise or high doses of aspirin. To the best of our knowledge, this is the first report describing an association between a factitious disorder and SNHL.


Assuntos
Transtornos Autoinduzidos/diagnóstico , Transtornos Autoinduzidos/psicologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/psicologia , Audiometria de Resposta Evocada , Feminino , Humanos , Adulto Jovem
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