A5029848304- Hearing, Cochlea, Tinnitus, Genetics
- Ear Surgery and Otitis Media
- Hearing Loss and Rehabilitation
- Nasal Surgery and Airway Studies
- Lung Cancer Diagnosis and Treatment
- Vestibular and auditory disorders
- Semiconductor Lasers and Optical Devices
- Photonic and Optical Devices
- Congenital heart defects research
- Hearing Impairment and Communication
- Speech and Audio Processing
- Congenital Ear and Nasal Anomalies
- Radiomics and Machine Learning in Medical Imaging
- Tracheal and airway disorders
- Medical Imaging and Pathology Studies
- Lung Cancer Treatments and Mutations
- Advanced Fiber Optic Sensors
- Hedgehog Signaling Pathway Studies
- Ion Channels and Receptors
- Speech Recognition and Synthesis
- Congenital Anomalies and Fetal Surgery
- Autoimmune Neurological Disorders and Treatments
- Congenital gastrointestinal and neural anomalies
- Neuroendocrine Tumor Research Advances
- Acute Ischemic Stroke Management
Showa University Fujigaoka Hospital
2018-2024
Furukawa Electric (Japan)
2022-2023
Carolina Ear, Nose and Throat Clinic
2021
Gunma University
1998-2019
National Cancer Center Hospital East
1998-2014
Asahi General Hospital
2009
Gunma Children's Medical Center
2003
Miwa Hospital
1998
Umma University
1996
Teikyo University
1991-1995
Background/Objectives: The OTOG gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and assigned as DFNB18B. To date, 44 causative variants have been reported to cause loss. However, the detailed clinical features OTOG-associated remain unclear. Methods: In this study, we analyzed 7065 patients with (mean age 26.4 ± 22.9 years, 2988 male, 3855 female, 222 without gender information) using massively parallel DNA sequencing 158 target deafness genes. We...
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes non-syndromic recessive sensorineural hearing loss, and also most common cause auditory neuropathy spectrum disorder (ANSD). In present study, we performed mutation analysis using massively parallel DNA sequencing (MPS). purpose this study was reveal frequency precise genetic clinical background OTOF-related loss in a large population. A total 2,265 Japanese (SNHL) patients compatible with autosomal...
Conclusions. The present study confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated vertigo and/or goiter during long-term follow-up. This clarification should help to facilitate appropriate genetic counseling proper medical management for these mutations, but there was no particular genotype–phenotype correlation among them, suggesting that other factors may contribute such variability....
Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, having three clinical subtypes. type 1 the most severe subtype due to its profound lack of responses, that appears in prepuberty. Six corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate several long-term advantages for patients their families. However, conventional genetic techniques, such as direct...
Abstract Background Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality auditory brainstem response (ABR), but also the presence otoacoustic emissions (OAEs). However, with age, OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic loss. Therefore, frequency ANSD may be underestimated. The aim study was determine what portion caused by mutations OTOF , major responsible gene for ANSD....
Abstract More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases hereditary loss. In this study we aimed clarify the mutation spectrum syndromic patients in Japan by using next-generation sequencing analysis a multiple targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions copy number variations genes. enrolled 140 any 14 (BOR syndrome, Waardenburg osteogenesis...
Abstract Purpose To retrospectively evaluate the diagnostic potential of magnetic resonance imaging (MRI)-based features and radiomics analysis (RA)-based for discriminating ovarian clear cell carcinoma (CCC) from endometrioid (EC). Materials methods Thirty-five patients with 40 ECs 42 43 CCCs who underwent pretherapeutic MRI examinations between 2011 2022 were enrolled. MRI-based two groups compared. RA-based extracted whole tumor volume on T2-weighted images (T2WI), contrast-enhanced...
Abstract The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic including autosomal dominant recessive inheritance (DFNA11, DFNB2). However, the prevalence detailed clinical features of -associated across a large population remain unclear. In this study, we conducted next-generation sequencing analysis cohort 10,042 Japanese patients. As result, 137 patients were identified with so that among was 1.36%. We 70 disease-causing...
Objectives: Congenital arhinia is rare clinical entity. An unusual case of congenital with no surgical treatment presented. Study Design: Case report. Methods: A 9-year-old was referred for otitis media effusion. In addition to his undergoing imaging studies since birth, various functional evaluations regarding the nose were performed. Furthermore, pathogenesis discussed. Results: The workup revealed absence nasal bones, septum, and turbinates, hypoxia maxilla, a high-arched palate. magnetic...
Single-station N2 (Stage IIIA) non-small-cell lung cancer has been reported to have a relatively favorable prognosis after surgery. However, most previous studies examined surgical outcomes in disease by pathologic nodal status but not clinical status. The objective of this study was clarify the single-station patients.A total 125 consecutive patients with were treated our institution between 1992 and 2008. Among them, 97 (78%) underwent thoracotomy, included retrospective study. We defined...
To evaluate the effect of Joint Photographic Experts Group (JPEG) compression ratios 10:1 and 20:1 on detection acute cerebral infarction at computed tomography (CT).CT images obtained in 25 patients with no lesions were compressed by means a JPEG algorithm 20:1. Normal abnormal sections (on original images) reviewed using color soft-copy monochrome cathode ray tube monitor. Five observers rated presence or absence lesion 50-point scale (0, definitely absent; 25, equivocal; 50, present)....
Mutations in the OTOF gene are a common cause of hereditary hearing loss and main auditory neuropathy spectrum disorder (ANSD). Although it is reported that most patients with mutations have stable, congenital or prelingual onset severe-to-profound loss, some show atypical clinical phenotypes, genotype-phenotype correlation not yet fully understood. In this study, we aimed to reveal detailed characteristics OTOF-related correlation. Detailed information was available for 64 our database who...
This paper describes the design and characteristics of an 8-channel (4-λ x 2) CWDM TOSA which can be built in external laser source (ELS) modules for a Co-Packaged Optics (CPO)-based network switch server. The achieves fiber-coupled power >20 dBm all channels over case temperature ranging from 25°C to 55 °C. All obtain polarization extinction ratio dB. mechanical size as small 23.5 mm 13.0 4.0 enables bult standard QSFP housing. We also fabricate pigtailed ELS using TOSA. Based on thermal...
The prognosis in lung cancer patients with a prior history of extrapulmonary is controversial. In the current multicenter joint research Japan, we focused on relationship between colorectal and its prognostic impact subsequent cancer. Between 2000 2013, designed retrospective study at three institutes Japan to evaluate factors previous surgery for cohorts consisted 123/4431 with/without median follow-up period was 6.1 years after surgery. 5-year overall survival not significantly different,...
Two comparative studies were performed in six subjects using partially implantable middle ear implants (MEI). The sound quality was evaluated by speech discrimination tests and evaluation tests. In the first experiment, performance of output transducer MEI an phone a conventional hearing aid compared. showed better results than both rating. second four kinds frequency responses for external component Sound wide response with peak at 4000 Hz superior to those present model. conclusion,...
要旨: 当院は, 耳鼻咽喉科一般診療に加え, 聞こえや言葉の遅れに対する専門外来を併設したクリニックとして, 平成26年6月に開院した。本報告では, 平成26年6月から平成27年6月までの期間に, 補聴器相談目的で受診した高齢者94例の補聴器適合の現況と, 購入後の経過について報告する。対象者の平均年齢は, 78.4歳 (±3.5) であった。94例中71例は補聴器購入に至り (以下補聴器購入群と示す), 23例は補聴器購入に至らなかった (以下, 補聴器非購入群と示す)。補聴器購入群と非購入群で聴力像を比較した。補聴器購入群における, 良聴耳の平均聴力レベルは, 52.1dB (±6.3) (四分法) で, 検査語表 57-S を用いた平均裸耳最高語音明瞭度は, 61.6% (±15.7) であった。補聴器非購入群の良聴耳の平均聴力レベル は, 48.6dB (±5.3) 平均裸耳最高語音明瞭度は, 67.1% (±10.7) であり, 両者の聴力像の比較では, 有意差を認めなかった。 ところが,「きこえについての質問紙...