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 AsiáticoRESUMO
Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a "typical" phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85-90% of the patients showed a hearing level of 20-39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed "true" auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype-phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype-phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.
Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Estudos de Associação Genética , Perda Auditiva/genética , Perda Auditiva Central , Perda Auditiva Neurossensorial/genética , Humanos , Japão , Proteínas de Membrana/genética , MutaçãoRESUMO
OBJECTIVE: Eosinophilic otitis media (EOM) is an intractable middle ear disease recognized by an eosinophil enriched middle ear effusion and mucosa. Although precise pathogenesis of EOM remains unclear, it is characterized by type 2 inflammation. Since IgG4 is an IgG subclass induced by type 2 cytokines such as IL-4 and IL-13, we sought to characterize and compare local IgG4 expression in patients with and without EOM. METHODS: Twelve patients with bilateral profound hearing loss, 9 of which underwent a cochlear implant surgery, were enrolled in this study (6 with EOM and 6 without EOM). The surgical specimens were harvested during surgery and were subjected to IgG4 immunostaining. RESULT: The middle ear mucosa showed the presence of a large number of IgG4-positive cells in patients with EOM, which was significantly higher than that in patients without EOM. CONCLUSION: Local IgG4 expression was observed in patients with EOM in comparison to those without EOM, suggesting that IgG4 contributes to EOM pathogenesis.
Assuntos
Otite Média com Derrame , Otite Média , Orelha Média , Eosinófilos , Humanos , Imunoglobulina G , InflamaçãoRESUMO
More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.
Assuntos
Suscetibilidade a Doenças , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Alelos , Família , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Genótipo , Perda Auditiva/diagnóstico , Humanos , Japão/epidemiologia , Mutação , Fenótipo , Prevalência , Vigilância em Saúde Pública , SíndromeRESUMO
BACKGROUND: IL-10 is a major anti-inflammatory cytokine that prevents inflammation-mediated tissue damage. We characterized the production of IL-10 by sinonasal tissue cells following exposure to Staphylococcus aureus enterotoxin B (SEB), which elicits cellular responses and is associated with the pathogenesis of eosinophilic chronic rhinosinusitis (ECRS). METHODS: Dispersed nasal polyp (NP) cells and uncinate tissue (UT) cells were prepared from patients with CRS with and without NP, respectively. Cells were incubated with SEB, and then the levels of IL-10 in the cell supernatants were determined. The effect of neutralizing IL-10 on SEB-induced IL-5, IL-13, IFN-γ, and IL-17A production was examined. Expression of IL-10 in NPs was also determined. RESULTS: IL-10 was expressed in infiltrating inflammatory cells in NPs. NP cells, especially non-adherent NP cells, produced substantial amounts of IL-10 in response to SEB. Although baseline production of IL-10 was significantly higher in NP cells than UT cells, the degree of IL-10 response to SEB was not significantly different between the cell types. The degree of IL-10 production was negatively correlated with the degree of eosinophilia both in tissues and peripheral blood whereas positively correlated with the 1-s forced expiratory volume/forced vital capacity ratio. Patients with severe ECRS displayed a significant decrease in IL-10 production compared with those with non-ECRS. IL-10 neutralization significantly augmented SEB-induced IL-13 and IFN-γ production by NP cells. CONCLUSIONS: Impaired IL-10 production in response to SEB in NP may exacerbate the pathophysiology of ECRS including eosinophilia and lower airway obstruction.
Assuntos
Enterotoxinas/imunologia , Eosinofilia/imunologia , Interleucina-10/biossíntese , Rinite/imunologia , Sinusite/imunologia , Adulto , Idoso , Células Cultivadas , Doença Crônica , Eosinofilia/fisiopatologia , Feminino , Humanos , Interleucina-10/imunologia , Masculino , Pessoa de Meia-Idade , Pólipos Nasais/imunologia , Pólipos Nasais/fisiopatologia , Rinite/fisiopatologia , Sinusite/fisiopatologia , Adulto JovemRESUMO
OBJECTIVES: To present the cardiovascular risk factors in idiopathic sudden sensorineural hearing loss (SSNHL) patients enrolled in a nationwide epidemiological survey of hearing disorders in Japan. MATERIALS AND METHODS: We compiled the cardiovascular risk factors in 3073 idiopathic SSNHL subjects (1621 men and 1452 women) and compared their proportions with controls as part of the National Health and Nutrition Survey in Japan, 2014. The cardiovascular risk factors consisted of drinking and smoking habits, a history of five conditions related to cardiovascular disease and body mass index. RESULTS: The proportion of current smokers was significantly higher among men aged 50-59, 60-69 and 70+ and among women aged 30-39, 40-49 and 60-69. The proportion of patients with a history of diabetes mellitus was significantly higher among men aged 50-59, 60-69 and 70+, but not in women. In addition, male and female SSNHL subjects aged 60-69 showed lower proportions of current drinking; and female SSNHL subjects aged 60-69 showed higher proportions of overweight (BMI ≥25 kg/m2). CONCLUSIONS: The present cross-sectional study revealed showed significantly higher proportions of current smokers among both men and women as well as those with a history of diabetes mellitus among men across many age groups in patients with idiopathic SSNHL compared with the controls.
Assuntos
Doenças Cardiovasculares/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Súbita/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Índice de Massa Corporal , Estudos Transversais , Feminino , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Fumar/epidemiologia , Adulto JovemRESUMO
CONCLUSION: Differences were found between patients with stable hearing and those with progressive hearing loss in the lower frequencies with respect to the rate of progression in the contralateral ear. It is suggested that the electric acoustic stimulation (EAS) can provide improvement in hearing ability over the long-term if residual hearing might be lost to some extent. OBJECTIVE: To evaluate the long-term threshold changes in the low frequency hearing of the implanted ear as compared with the non-implanted ear, and the hearing abilities with EAS along with the extent of residual hearing. METHODS: Seventeen individuals were enrolled and received the EAS implant with a 24-mm FLEXeas electrode array. Hearing thresholds and speech perception were measured pre- and post-operatively for 1-5 years. Post-operative hearing preservation (HP) rates were calculated using the preservation numerical scale. RESULTS: The average linear regression coefficient for the decline in hearing preservation score was -6.9 for the implanted ear and the patients were subsequently categorized into two groups: those with better than average, stable hearing; and those with worse than average, progressive hearing loss. EAS showed better results than electric stimulation alone, in spite of an absence of speech perception with acoustic stimulation.
Assuntos
Implante Coclear , Perda Auditiva de Alta Frequência/cirurgia , Adulto , Idoso , Feminino , Audição , Humanos , Masculino , Pessoa de Meia-Idade , Percepção da FalaRESUMO
OBJECTIVES: We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. METHODS: Two hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss. RESULTS: Four novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with a homozygous nonsense mutation. Case 2 had nonprogressive profound SNHL with a compound heterozygous mutation (nonsense and missense mutation). Case 3 had nonprogressive moderate SNHL with a compound heterozygous mutation (missense and splice site mutation). Caloric test and vestibular evoked myogenic potential (VEMP) test showed vestibular dysfunction in Case 1. CONCLUSION: Hearing loss levels and progression among the present cases were varied, and there seem to be no obvious correlations between genotypes and the phenotypic features of their hearing loss. The PTPRQ mutations appeared to be responsible for vestibular dysfunction.
Assuntos
Códon sem Sentido , Perda Auditiva Neurossensorial/genética , Mutação de Sentido Incorreto , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética , Povo Asiático/genética , Audiometria de Tons Puros , Análise Mutacional de DNA/métodos , Surdez/genética , Potenciais Evocados Auditivos , Perda Auditiva Neurossensorial/congênito , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , LinhagemRESUMO
Middle ear implants (MEIs) such as the Vibrant Soundbridge (VSB) are attractive and alternative treatments for patients with conductive, sensorineural, and mixed hearing loss who do not benefit from, or who choose not to wear, conventional hearing aids (HAs). Recent studies suggest that MEIs can provide better improvements in functional gain, speech perception, and quality of life than HAs, although there are certain risks associated with the surgery which should be taken into consideration, including facial nerve or chorda tympanic nerve damage, dysfunctions of the middle and inner ears, and future device failure/explantation. In Japan, a multi-center clinical trial of VSB was conducted between 2011-2014. A round window vibroplasty via the transmastoid approach was adopted in the protocol. The bony lip overhanging the round window membrane (RWM) was extensively but very carefully drilled to introduce the Floating Mass Transducer (FMT). Perichondrium sheets were used to stabilize the FMT onto the RWM. According to the audiological criteria, the upper limit of bone conduction should be 45 dB, 50 dB, and 65 dB from 500 Hz to 4, 000 Hz. Twenty-five patients underwent the surgery so far at 13 different medical centers. The age at the surgery was between 26-79 years old, and there were 15 males and 10 females. The cause of conductive or mixed hearing loss was middle ear diseases in 23 cases and congenital aural atresia in two cases. The data concerning on the effectiveness and safety of VSB was collected before the surgery and 20 weeks after the surgery. Significant improvements of free-field Pure Tone Audiogram (PTA) from 250 Hz to 8, 000 Hz were confirmed (p < 0.001). Hearing gain up to 40 dB was achieved in the 1, 000 Hz to 4, 000 Hz range. No deterioration in either air conduction or bone conduction at PTA was noted at 20 weeks after the surgery. Monosyllable speech perception in both quiet and noisy conditions improved significantly (p < 0.001). The speech discrimination score in both quiet and noisy conditions improved significantly too (p < 0.001). In the future, it is likely that there will be an increasing population even in Japan that will meet the criteria for MEIs such as VSB. However, the long-term efficacy and safety of these devices should be established.
Assuntos
Auxiliares de Audição , Adulto , Idoso , Limiar Auditivo , Desenho de Equipamento , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-IdadeRESUMO
The Vibrant Soundbridge (VSB) is an active middle ear implant with the Floating Mass Transducer (FMT). We performed a multicenter study to study the efficacy of the VSB by means of "the 10 Questionnaire on Hearing 2002" and "the APHAB questionnaire" at 13 hospitals between 2011 and 2013. In all, 23 patients with mixed or conductive hearing loss received VSB implantation by the round window placement technique. These individuals were generally unable to use, or gained little from conventional hearing aids or bone conduction hearing aids. Two questionnaires were administrated before the surgery and 20 weeks after the VSB implantation. Scores on every item of "the 10 Questionnaire on Hearing 2002" showed significant improvement under noise after VSB implantation. On the APHAB, the scores for Ease of Communication, Reverberation, and Background subscales improved significantly after the VSB implantation, while the score for the Aversiveness subscale alone failed to show a positive improvement from the inexperience to the new sound. Analysis of the responses to these subjective questionnaires revealed better results after VSB implantation as compared to the preoperative data. In conclusion, RW vibroplasty with the use of VSB provided subjective benefit in patients with conductive and mixed hearing loss.
Assuntos
Auxiliares de Audição , Perda Auditiva Condutiva/reabilitação , Perda Auditiva Condutiva-Neurossensorial Mista/reabilitação , Adulto , Idoso , Implantes Cocleares , Feminino , Auxiliares de Audição/psicologia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente/estatística & dados numéricos , Inquéritos e Questionários , Fatores de TempoRESUMO
CONCLUSION: The surface template-assisted marker positioning (STAMP) method is useful for successful Bonebridge™ (BB) implantation on a planned site while avoiding dangerous positions. OBJECTIVES: To confirm the usefulness of the STAMP method for the safe operation of BB. METHODS: From a patient's temporal bone CT data, a guide plate and confirmation plate were generated by the STAMP method. The guide plate is used to mark the correct place for implantation, while the confirmation plate lets us know the correct angle and depth of the hole. RESULTS: With the guide plate, the correct place for BB implantation was easily found. The hole was made to be an appropriate size with the confirmation plate while exposing only a small part of sigmoid sinus as simulated. Finally, the BB implant was successfully placed exactly at the planned site.
Assuntos
Perda Auditiva Condutiva/cirurgia , Imageamento Tridimensional/métodos , Procedimentos Cirúrgicos Otológicos/métodos , Cirurgia Assistida por Computador/métodos , Osso Temporal/cirurgia , Implantes Cocleares , Feminino , Seguimentos , Perda Auditiva Condutiva/diagnóstico por imagem , Humanos , Procedimentos Cirúrgicos Otológicos/instrumentação , Desenho de Prótese , Implantação de Prótese/métodos , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto JovemRESUMO
CONCLUSIONS: Our results indicated that electric acoustic stimulation (EAS) is beneficial for Japanese-speaking patients, including those with less residual hearing at lower frequencies. Comparable outcomes for the patients with less residual hearing indicated that current audiological criteria for EAS could be expanded. Successful hearing preservation results, together with the progressive nature of loss of residual hearing in these patients, mean that minimally invasive full insertion of medium/long electrodes in cochlear implantation (CI) surgery is a desirable solution. The minimally invasive concepts that have been obtained through EAS surgery are, in fact, crucial for all CI patients. OBJECTIVES: This study was conducted to evaluate hearing preservation results and speech discrimination outcomes of hearing preservation surgeries using medium/long electrodes. METHODS: A total of 32 consecutive minimally invasive hearing preservation CIs (using a round window approach with deep insertion of a flexible electrode) were performed in 30 Japanese patients (two were bilateral cases), including patients with less residual hearing. Hearing preservation rates as well as speech discrimination/perception scores were investigated on a multicenter basis. RESULTS: Postoperative evaluation after full insertion of the flexible electrodes (24 mm, 31.5 mm) showed that residual hearing was well preserved in all 32 ears. In all patients, speech discrimination and perception scores were improved postoperatively.
Assuntos
Implante Coclear , Implantes Cocleares , Perda Auditiva de Alta Frequência/terapia , Perda Auditiva Neurossensorial/terapia , Adulto , Idoso , Limiar Auditivo/fisiologia , Feminino , Seguimentos , Perda Auditiva de Alta Frequência/fisiopatologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Janela da Cóclea/cirurgia , Percepção da Fala/fisiologia , Resultado do Tratamento , Adulto JovemRESUMO
CONCLUSIONS: The patients who received electric acoustic stimulation (EAS) cochlear implantation had relatively good vestibular function compared with the patients who did not have residual hearing. The vestibular function was well preserved after atraumatic EAS surgery. The round window approach and soft electrode are preferred to decrease the risk of impairing vestibular function. OBJECTIVES: The aim of this study was to examine the characteristic features of vestibular functions before and after implantations in patients undergoing EAS. METHODS: Vestibular functions in patients who underwent EAS implantation were examined by caloric testing and vestibular evoked myogenic potential (VEMP) in 11 patients before and in 13 patients after implantation. RESULTS: Preoperative evaluation showed that of the 11 patients, most (73%) had good vestibular function. One of 11 patients (9%) had decreased response in postoperative VEMP but all of the patients had unchanged results in postoperative caloric testing.
Assuntos
Estimulação Acústica , Implante Coclear , Vestíbulo do Labirinto/fisiologia , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Canais Semicirculares/fisiologiaRESUMO
Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A mutations in profound hearing loss children is also discussed. We sequenced all exons of the MYO7A gene in 80 Japanese children with severe to profound non-syndromic HL not due to mutations of the GJB2 gene (ages 0-14 years). A total of nine DNA variants were found and six of them were presumed to be non-pathogenic variants. In addition, three variants of them were found in two patients (2.5%) with deafness and were classified as possible pathogenic variants. Among them, at least one nonsense mutation and one missense mutation from the patient were confirmed to be responsible for deafness. After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1.
Assuntos
Miosinas/genética , Síndromes de Usher/diagnóstico , Síndromes de Usher/genética , Povo Asiático , Criança , Pré-Escolar , Conexina 26 , Conexinas , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Mutação , Miosina VIIaRESUMO
Type 2 diabetes is characterized by impaired insulin secretion from pancreatic ß-cells. Quantification of the islet area in addition to the insulin-positive area is important for detailed understanding of pancreatic islet histopathology. Here we show computerized automatic recognition of the islets of Langerhans as a novel high-throughput method to quantify islet histopathology. We utilized state-of-the-art tissue pattern recognition software to enable automatic recognition of islets, eliminating the need to laboriously trace islet borders by hand. After training by a histologist, the software successfully recognized even irregularly shaped islets with depleted insulin immunostaining, which were quite difficult to automatically recognize. The results from automated image analysis were highly correlated with those from manual image analysis. To establish whether this automated, rapid, and objective determination of islet area will facilitate studies of islet histopathology, we showed the beneficial effect of chronic exendin-4, a glucagon-like peptide-1 analog, treatment on islet histopathology in Zucker diabetic fatty (ZDF) rats. Automated image analysis provided qualitative and quantitative evidence that exendin-4 treatment ameliorated the loss of pancreatic insulin content and gave rise to islet hypertrophy. We also showed that glucagon-positive α-cell area was decreased significantly in ZDF rat islets with disorganized structure. This study is the first to demonstrate the utility of automatic quantification of digital images to study pancreatic islet histopathology. The proposed method will facilitate evaluations in preclinical drug efficacy studies as well as elucidation of the pathophysiology of diabetes.
Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/patologia , Hipoglicemiantes/uso terapêutico , Ilhotas Pancreáticas/efeitos dos fármacos , Ilhotas Pancreáticas/patologia , Reconhecimento Automatizado de Padrão , Peptídeos/uso terapêutico , Peçonhas/uso terapêutico , Animais , Inteligência Artificial , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/metabolismo , Exenatida , Sistemas Inteligentes , Glucagon/metabolismo , Peptídeo 1 Semelhante ao Glucagon/análogos & derivados , Células Secretoras de Glucagon/efeitos dos fármacos , Células Secretoras de Glucagon/metabolismo , Células Secretoras de Glucagon/patologia , Ensaios de Triagem em Larga Escala , Insulina/sangue , Insulina/metabolismo , Células Secretoras de Insulina/efeitos dos fármacos , Células Secretoras de Insulina/metabolismo , Células Secretoras de Insulina/patologia , Ilhotas Pancreáticas/metabolismo , Masculino , Obesidade/complicações , Ratos , Ratos Zucker , Somatostatina/metabolismo , Células Secretoras de Somatostatina/efeitos dos fármacos , Células Secretoras de Somatostatina/metabolismo , Células Secretoras de Somatostatina/patologiaRESUMO
The effectiveness of bone anchored hearing aid (BAHA) for the patients with congenital aural atresia was evaluated by multicenter clinical study in Japan. Twenty patients (17 bilateral and 3 hemilateral) of congenital auricular atresia were registered for this study and finally, 18 of them (15 bilateral and 3 unilateral) were subjected to further evaluation. Primary endpoint of this study was free sound-field pure-tone audiometory and speech threshold hearing test in quiet and noisy circumstances. Secondary endpoint of this study was patient's satisfaction based upon APHAB (Abbreviated Profile of Hearing Aid Benefit) questionnaire survey. These results were compared between before and 12 weeks after BAHA surgery. Both hearing level of pure tone and speech threshold significantly improved after BAHA surgery. APHAB scores also suggested the improvement of the QOL after BAHA usage, except for the scores that concerned with unpleasantness of noisy sound. BAHA is one of the useful options for the treatment of congenital auricular atresia.
Assuntos
Meato Acústico Externo/anormalidades , Auxiliares de Audição , Implantação de Prótese , Adulto , Audiometria de Tons Puros , Limiar Auditivo , Osso e Ossos , HumanosRESUMO
CONCLUSIONS: With full insertion with a long electrode, hearing preservation can be achieved even in the presence of a long electrode covering the residual hearing region. OBJECTIVES: Advances in developing new atraumatic concepts of electrode design as well as surgical technique have enabled hearing preservation after cochlear implantation surgery, and EAS (electric acoustic stimulation) accompanied with hearing preservation is a new trend for patients with residual hearing at the lower frequencies. However, full insertion with a long/medium electrode and hearing preservation is still a challenging field that calls for discussion. METHOD: In this study, round window insertion, an atraumatic electrode, and dexamethasone administration were used and atraumaticity (hearing preservation and conservation of vestibular function) was evaluated with full insertion of the electrode. RESULTS: Postoperative evaluation after full insertion of the electrodes showed that hearing at low frequencies was well preserved in all five cases. Combined postoperative imaging with the referential tonotopic map confirmed achievement of full insertion and indicated the corresponding frequencies and the depth of the electrode. Achievement of atraumaticity of round window insertion in the present cases was confirmed from the viewpoint of the minimal drilling time as well as the preserved vestibular function.
Assuntos
Implante Coclear/métodos , Implantes Cocleares , Perda Auditiva/prevenção & controle , Audição , Complicações Pós-Operatórias/prevenção & controle , Adulto , Idoso , Anti-Inflamatórios/uso terapêutico , Testes Calóricos , Dexametasona/uso terapêutico , Feminino , Perda Auditiva de Alta Frequência/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Potenciais Evocados Miogênicos VestibularesRESUMO
Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 1 (USH1), the second common type of USH, is frequently caused by MYO7A and CDH23 mutations, accounting for 70-80% of the cases among various ethnicities, including Caucasians, Africans and Asians. However, there have been no reports of mutation analysis for any responsible genes for USH1 in Japanese patients. This study describes the first mutation analysis of MYO7A and CDH23 in Japanese USH1 patients. Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients. Of these mutations, two were novel. One of them, p.Tyr1942SerfsX23 in CDH23, was a large deletion causing the loss of 3 exons. This is the first large deletion to be found in CDH23. The incidence of the MYO7A and CDH23 mutations in the study population was 80%, which is consistent with previous findings. Therefore, mutation screening for these genes is expected to be a highly sensitive method for diagnosing USH1 among the Japanese.
Assuntos
Antígenos CD/genética , Caderinas/genética , Mutação , Miosinas/genética , Síndromes de Usher/genética , Adolescente , Adulto , Povo Asiático , Sequência de Bases , Análise Mutacional de DNA , Feminino , Humanos , Japão , Masculino , Miosina VIIa , LinhagemRESUMO
We present herein a rare case of diaphragmatic rupture due to violent coughing during tracheostomy. A 73-year-old man was admitted with cough, hoarseness and dysphagia caused by a huge laryngeal cancer obstructing the airways. Immediate emergency tracheostomy was performed, during which he experienced violent paroxysmal coughing, and he began to complain of right upper abdominal discomfort after tracheostomy. Chest radiography and computed tomography 4 days later showed right diaphragmatic rupture, through which small bowel loops had herniated into the right hemithorax. Diaphragmatic rupture with a 20-cm long fresh oblique tear was repaired through subsequent surgical treatment. Violent paroxysmal coughing during tracheostomy was considered likely to have caused this rare complication.
Assuntos
Tosse/complicações , Diafragma/fisiopatologia , Complicações Intraoperatórias , Ruptura Espontânea , Traqueostomia/métodos , Idoso , Diafragma/diagnóstico por imagem , Diafragma/cirurgia , Humanos , Masculino , Radiografia Torácica , Ruptura Espontânea/diagnóstico , Ruptura Espontânea/etiologia , Ruptura Espontânea/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
Acetate is activated to acetyl-CoA by acetyl-CoA synthetase 2 (AceCS2), a mitochondrial enzyme. Here, we report that the activation of acetate by AceCS2 has a specific and unique role in thermogenesis during fasting. In the skeletal muscle of fasted AceCS2(-/-) mice, ATP levels were reduced by 50% compared to AceCS2(+/+) mice. Fasted AceCS2(-/-) mice were significantly hypothermic and had reduced exercise capacity. Furthermore, when fed a low-carbohydrate diet, 4-week-old weaned AceCS2(-/-) mice also exhibited hypothermia accompanied by sustained hypoglycemia that led to a 50% mortality. Therefore, AceCS2 plays a significant role in acetate oxidation needed to generate ATP and heat. Furthermore, AceCS2(-/-) mice exhibited increased oxygen consumption and reduced weight gain on a low-carbohydrate diet. Our findings demonstrate that activation of acetate by AceCS2 plays a pivotal role in thermogenesis, especially under low-glucose or ketogenic conditions, and is crucially required for survival.