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Hearing Disorders: HELP
Articles by Kaoru Ogawa
Based on 64 articles published since 2009
(Why 64 articles?)
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Between 2009 and 2019, Kaoru Ogawa wrote the following 64 articles about Hearing Disorders.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3
1 Article Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. 2019

Wasano, Koichiro / Takahashi, Satoe / Rosenberg, Samuel K / Kojima, Takashi / Mutai, Hideki / Matsunaga, Tatsuo / Ogawa, Kaoru / Homma, Kazuaki. ·Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Laboratory of Auditory Disorders, Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan. · The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University, Evanston, Illinois. ·Hum Mutat · Pubmed #31599023.

ABSTRACT: Thanks to the advent of rapid DNA sequencing technology and its prevalence, many disease-associated genetic variants are rapidly identified in many genes from patient samples. However, the subsequent effort to experimentally validate and define their pathological roles is extremely slow. Consequently, the pathogenicity of most disease-associated genetic variants is solely speculated in silico, which is no longer deemed compelling. We developed an experimental approach to efficiently quantify the pathogenic effects of disease-associated genetic variants with a focus on SLC26A4, which is essential for normal inner ear function. Alterations of this gene are associated with both syndromic and nonsyndromic hereditary hearing loss with various degrees of severity. We established HEK293T-based stable cell lines that express pendrin missense variants in a doxycycline-dependent manner, and systematically determined their anion transport activities with high accuracy in a 96-well plate format using a high throughput plate reader. Our doxycycline dosage-dependent transport assay objectively distinguishes missense variants that indeed impair the function of pendrin from those that do not (functional variants). We also found that some of these putative missense variants disrupt normal messenger RNA splicing. Our comprehensive experimental approach helps determine the pathogenicity of each pendrin variant, which should guide future efforts to benefit patients.

2 Article Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome. 2019

Hosoya, Makoto / Saeki, Tsubasa / Saegusa, Chika / Matsunaga, Tatsuo / Okano, Hideyuki / Fujioka, Masato / Ogawa, Kaoru. ·Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo 160-8582, Japan. · Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo 160-8582, Japan. · The Laboratory of Auditory Disorders and Division of Hearing and Balance Research, National Institute of Sensory Organs, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan. · Medical Genetics Center, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan. ·Regen Ther · Pubmed #30581897.

ABSTRACT: Introduction: Pendred syndrome is an autosomal-recessive disease characterized by congenital hearing loss and thyroid goiter. Previously, cell stress susceptibilities were shown to increase in patient-derived cells with intracellular aggregation using an Methods: In this report, we first investigated the rational minimum concentration of rapamycin using patient-specific iPS cells derived-cochlear cells with three different conditions of acute stress. We next confirmed the effects of rapamycin in long-term cell survival and phenotypes by using cochlear cells derived from three different patient-derived iPS cells. Results: We found that inner ear cells derived from Pendred syndrome patients are more vulnerable than those from healthy individuals during long-term culturing; however, this susceptibility was relieved via treatment with low-dose rapamycin. The slow progression of hearing loss in patients may be explained, in part, by the vulnerability observed in patient cells during long-term culturing. We successfully evaluated the rational minimum concentration of rapamycin for treatment of Pendred syndrome. Conclusion: Our results suggest that low-dose rapamycin not only decreases acute symptoms but may prevent progression of hearing loss in Pendred syndrome patients.

3 Article Two-Point Method for Measuring the Temporal Modulation Transfer Function. 2019

Morimoto, Takashi / Irino, Toshio / Harada, Kouta / Nakaichi, Takeshi / Okamoto, Yasuhide / Kanno, Ayako / Kanzaki, Sho / Ogawa, Kaoru. ·Wakayama University, Wakayama, Japan. · RION Co. Ltd., Tokyo, Japan. · Keio University Hospital, Tokyo, Japan. · Tokyo Saiseikai Central Hospital, Tokyo, Japan. · Inagi Municipal Hospital, Tokyo, Japan. ·Ear Hear · Pubmed #29664752.

ABSTRACT: OBJECTIVE: The temporal modulation transfer function (TMTF) has been proposed to estimate the temporal resolution abilities of listeners with normal hearing and listeners with hearing loss. The TMTF data of patients would be useful for clinical diagnosis and for adjusting the hearing instruments at clinical and fitting sites. However, practical application is precluded by the long measurement time of the conventional method, which requires several measurement points. This article presents a new method to measure the TMTF that requires only two measurement points. DESIGN: Experiments were performed to estimate the TMTF of normal listeners and listeners with hearing loss to demonstrate that the two-point method can estimate the TMTF parameter and the conventional method. Sixteen normal hearing and 21 subjects with hearing loss participated, and the difference between the estimated TMTF parameters and measurement time were compared. RESULTS: The TMTF parameters (the peak sensitivity Lps and cutoff frequency fcutoff) estimated by the conventional and two-point methods showed significantly high correlations: the correlation coefficient for Lps was 0.91 (t(45) = 14.3; p < 10) and that for fcutoff was 0.89 (t(45) = 13.2; p < 10). There were no fixed and proportional biases. Therefore, the estimated values were in good agreement. Moreover, there was no systematic bias depending on the subject's profile. The measurement time of the two-point method was approximately 10 min, which is approximately one-third that of the conventional method. CONCLUSION: The two-point method enables the introduction of TMTF measurement in clinical diagnosis.

4 Article A Surgical Procedure for the Administration of Drugs to the Inner Ear in a Non-Human Primate Common Marmoset (Callithrix jacchus). 2018

Kurihara, Sho / Fujioka, Masato / Yoshida, Tomohiko / Koizumi, Makoto / Ogawa, Kaoru / Kojima, Hiromi / Okano, Hirotaka James. ·Division of Regenerative Medicine, Jikei University School of Medicine; Department of Otorhinolaryngology, Jikei University School of Medicine. · Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine; masato@2002.jukuin.keio.ac.jp. · Laboratory Animal Facilities, Jikei University School of Medicine. · Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine. · Department of Otorhinolaryngology, Jikei University School of Medicine. · Division of Regenerative Medicine, Jikei University School of Medicine; hjokano@jikei.ac.jp. ·J Vis Exp · Pubmed #29553522.

ABSTRACT: Hearing research has long been facilitated by rodent models, although in some diseases, human symptoms cannot be recapitulated. The common marmoset (Callithrix jacchus) is a small, easy-to-handle New World monkey which has a similar anatomy of the temporal bone, including the middle ear ossicular chains and inner ear to humans, than in comparison with that of rodents. Here, we report a reproducible, safe, and rational surgical approach to the cochlear round window niche for the drug delivery to the inner ear of the common marmoset. We adopted posterior tympanotomy, a procedure used clinically in human surgery, to avoid manipulation of the tympanic membrane that may cause conductive hearing loss. This surgical procedure did not lead to any significant hearing loss. This approach was possible due to the large bulla structure of the common marmoset, although the lateral semicircular canal and vertical portion of the facial nerve should be carefully considered. This surgical method allows us to perform the safe and accurate administration of drugs without hearing loss, which is of great importance in obtaining pre-clinical proof of concept for translational research.

5 Article Auditory Related Resting State fMRI Functional Connectivity in Tinnitus Patients: Tinnitus Diagnosis Performance. 2018

Minami, Shujiro B / Oishi, Naoki / Watabe, Takahisa / Uno, Kimiichi / Ogawa, Kaoru. ·National Tokyo Medical Center, National Institute of Sensory Organs. · Department of Otolaryngology, Head and Neck Surgery, School of Medicine, Keio University. · Gaienhigashi Clinic, Tokyo, Japan. ·Otol Neurotol · Pubmed #29210942.

ABSTRACT: OBJECTIVE: The purpose of the present study was to investigate functional connectivity in tinnitus patients with and without hearing loss, and design the tinnitus diagnosis performance by resting state functional magnetic resonance imaging (rs-fMRI). SUBJECTS AND METHODS: Nineteen volunteers with normal hearing without tinnitus, 18 tinnitus patients with hearing loss, and 11 tinnitus patients without hearing loss were enrolled in this study. The subjects were evaluated with rs-fMRI, and region of interests (ROIs) based correlation analyses were performed using the CONN toolbox version 16 and SPM version 8. The correlation coefficients from individual level results were converted into beta values. RESULTS: With a beta threshold of more than 0.2, 91% of all possible connections between auditory-related ROIs (Heschl's gyrus, planum temporale, planum polare, operculum, insular cortex, superior temporal gyrus) in the control group remained intact, whereas 83 and 66% of such connections were present in the hearing loss and the normal-hearing tinnitus group. However, between non-auditory-related ROIs, the rates of intact connections at a beta threshold of more than 0.2 were 17% in the control group, and 16 and 15% in the tinnitus groups. When resting state fMRI positive is defined as less than 9% of all possible connections between auditory-related ROIs with a beta threshold of more than 0.7, the sensitivity and specificity of tinnitus diagnosis is 86 and 74%, respectively. CONCLUSIONS: The associations between auditory-related networks are weakened in tinnitus patients, even if they have normal hearing. It is possible that rs-fMRI can be a tool for objective examination of tinnitus, by focusing the auditory-related areas.

6 Article Effects of tinnitus treatments on sleep disorders in patients with tinnitus. 2018

Wakabayashi, Satoko / Saito, Hideyuki / Oishi, Naoki / Shinden, Seiichi / Ogawa, Kaoru. ·a Department of Otolaryngology-Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. ·Int J Audiol · Pubmed #28906162.

ABSTRACT: OBJECTIVE: To assess the effects of tinnitus treatments on sleep disorders in patients with tinnitus. DESIGN: Subjects completed the Pittsburg Sleep Quality Index (PSQI), Tinnitus Handicap Inventory (THI), Self-rating Depression Scale (SDS), and State Trait Anxiety Inventory (STAI). The questionnaire results and the patients' sex, age, time since the onset of tinnitus, and mean hearing level were examined, and differences between a sleep disorder group and a normal sleep group were examined. Patients completed the questionnaires again after initiating tinnitus treatments (counselling and use of sound generators), and the change in questionnaire scores at follow-up was evaluated. STUDY SAMPLE: Patients (N = 100) with tinnitus who visited Keio University Hospital and started treatment without medication between 2005 and 2008. RESULTS: Sixty-six percent of the patients had sleep disorders. Compared with patients without sleep disorders, patients with sleep disorders had significantly higher SDS and STAI scores at the first visit. The mean PSQI scores showed significant improvement at follow-up. CONCLUSIONS: Sleep disorders in patients with tinnitus improved after tinnitus treatments. Complex interactions between depressive symptoms and anxiety may occur in these patients. The improvement in sleep disorders at follow-up was correlated with improvements in tinnitus severity and state anxiety.

7 Article Time-controllable Nkcc1 knockdown replicates reversible hearing loss in postnatal mice. 2017

Watabe, Takahisa / Xu, Ming / Watanabe, Miho / Nabekura, Junichi / Higuchi, Taiga / Hori, Karin / Sato, Mitsuo P / Nin, Fumiaki / Hibino, Hiroshi / Ogawa, Kaoru / Masuda, Masatsugu / Tanaka, Kenji F. ·Department of Otolaryngology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. · Department of Neuropsychiatry, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. · Department of Neurophysiology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu city, Shizuoka, 431-3192, Japan. · Division of Homeostatic Development, National Institute for Physiological Sciences, 38 Nishigonaka Myodaiji, Okazaki, Aichi, 444-8585, Japan. · Department of Molecular Physiology, Niigata University School of Medicine, 757 Ichibancho, Asahimachi-dori, Chuo-ku, Niigata-shi, Niigata, 951-8510, Japan. · Center for Transdisciplinary Research, Niigata University, 8050 Ikarashi 2-no-cho, Nishi-ku, Niigata, 950-2181, Japan. · Department of Otolaryngology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. masoeur13@mac.com. · Department of Otolaryngology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka-shi, Tokyo, 181-8611, Japan. masoeur13@mac.com. · Department of Neuropsychiatry, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. kftanaka@keio.jp. ·Sci Rep · Pubmed #29051615.

ABSTRACT: Identification of the causal effects of specific proteins on recurrent and partially reversible hearing loss has been difficult because of the lack of an animal model that provides reversible gene knockdown. We have developed the transgenic mouse line Actin-tTS::Nkcc1

8 Article Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss. 2017

Yamamoto, Nobuko / Mutai, Hideki / Namba, Kazunori / Morita, Noriko / Masuda, Shin / Nishi, Yasuyuki / Nakano, Atsuko / Masuda, Sawako / Fujioka, Masato / Kaga, Kimitaka / Ogawa, Kaoru / Matsunaga, Tatsuo. ·Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. · Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan. · Department of Otolaryngology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi, Tokyo, 173-8606, Japan. · Department of Pediatric Rehabilitation, Hiroshima Prefectural Hospital, 1-5-54 Ujina-Kanda, Minami, Hiroshima, 734-8530, Japan. · Department of Otolaryngology, National Hospital Organization Kure Medical Center, 3-1 Aoyama, Kure, Hiroshima, 737-0023, Japan. · Division of Otorhinolaryngology, Chiba Children's Hospital, 579-1 Heta, Midori, Chiba, 266-0007, Japan. · Department of Otorhinolaryngology, National Mie Hospital, 357 Osato-Kubota, Tsu, Mie, 514-0125, Japan. · Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. matsunagatatsuo@kankakuki.go.jp. · Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. matsunagatatsuo@kankakuki.go.jp. ·Orphanet J Rare Dis · Pubmed #28946916.

ABSTRACT: BACKGROUND: To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL. METHODS: Subjects with bilateral non-syndromic hearing loss were prescreened for GJB2 and m.1555A > G and m.3243A > G mitochondrial DNA mutations, and patients with inner ear malformations were excluded. We selected MFSNHL patients whose audiograms met the U-shaped criterion proposed by the GENDEAF study group, along with those with shallow U-shaped audiograms, for TECTA analysis. All TECTA exons were analyzed by Sanger sequencing. Novel missense variants were classified as possibly pathogenic, non-pathogenic, and variants of uncertain significance, based on genetic data. To evaluate novel possibly pathogenic variants, we predicted changes in protein structure by molecular modeling. RESULTS: Pathogenic and possibly pathogenic variants of TECTA were found in 4 (6.0%) of 67 patients with MFSNHL. In patients with U-shaped audiograms, none (0%) of 21 had pathogenic or possibly pathogenic variants. In patients with shallow U-shaped audiograms, four (8.7%) of 46 had pathogenic or possibly pathogenic variants. Two novel possibly pathogenic variants were identified and two previously reported mutations were considered as variant of unknown significance. The clinical features of patients with pathogenic and possibly pathogenic variants were consistent with those in previous studies. Pathogenic or possibly pathogenic variants were identified in 3 of 23 families (13.0%) which have the family histories compatible with autosomal dominant and 1 of 44 families (2.3%) which have the family histories compatible with sporadic or autosomal recessive. CONCLUSIONS: TECTA mutations were identified in 6.0% of MFSNHL. These mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive.

9 Article Clinical characteristics of patients with tinnitus evaluated with the Tinnitus Sample Case History Questionnaire in Japan: A case series. 2017

Kojima, Takashi / Kanzaki, Sho / Oishi, Naoki / Ogawa, Kaoru. ·Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan. · Department of Otorhinolaryngology, Machida Municipal Hospital, Machida-shi, Tokyo, Japan. ·PLoS One · Pubmed #28841656.

ABSTRACT: BACKGROUND: The Tinnitus Sample Case History Questionnaire was determined as a standardized questionnaire for obtaining patient case histories and for characterizing patients into subgroups at the Tinnitus Research Initiative in 2006. In this study, we developed a Japanese version of this questionnaire for evaluating the clinical characteristics of patients with tinnitus. The Japanese version of the questionnaire will be available for evaluating treatments for tinnitus and for comparing data on tinnitus in research centers. AIMS/OBJECTIVES: To evaluate the clinical characteristics of patients with tinnitus in Japan using a newly developed Japanese version of Tinnitus Sample Case History Questionnaire. STUDY DESIGN: This was a prospective study based on patient records. SETTING: University hospitals, general hospitals, and clinics. SUBJECTS AND METHODS: We collected patient data using a Japanese translated version of the Tinnitus Sample Case History Questionnaire. In total, 584 patients who visited our institutions in Japan between August 2012 and March 2014 were included (280 males and 304 females; age 13-92 years; mean age, 60.8). We examined patients after dividing them into two groups according to the presence or absence of hyperacusis. The collected results were compared with those from the Tinnitus Research Initiative database. RESULTS: Compared with the TRI database, there were significantly more elderly female patients and fewer patients with trauma-associated tinnitus. There was a statistically lower ratio of patients with hyperacusis. We found that patients with tinnitus in addition to hyperacusis had greater tinnitus severity and exhibited higher rates of various complications. CONCLUSION: The Japanese version of the Tinnitus Sample Case History Questionnaire developed in this study can be a useful tool for evaluating patients with tinnitus in Japan. The results of this multicenter study reflect the characteristics of patients with tinnitus who require medical care in Japan. Our data provides a preliminary basis for an international comparison of tinnitus epidemiology.

10 Article Assessment of hyperacusis with a newly produced Japanese version of the Khalfa hyperacusis questionnaire. 2017

Oishi, Naoki / Yamada, Hiroyuki / Kanzaki, Sho / Kurita, Akihiro / Takiguchi, Yoichiro / Yuge, Isamu / Asama, Yoji / Masuda, Masatsugu / Ogawa, Kaoru. ·a Department of Otolaryngology, Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · b Department of Otolaryngology , Saitama Red Cross Hospital , Saitama , Japan. · c Department of Otolaryngology , Eiju Sogo Hospital , Tokyo , Japan. · d Department of Otolaryngology , Yuge E.N.T. Clinic , Kanagawa , Japan. · e Department of Otolaryngology , Asama Jibiinkoka Clinic , Ibaragi , Japan. · f Department of Otolaryngology, Head and Neck Surgery , Kyorin University School of Medicine , Tokya , Japan. ·Acta Otolaryngol · Pubmed #28394666.

ABSTRACT: OBJECTIVES: The purpose of this study was to determine the validity and reliability of a Japanese version of the Khalfa hyperacusis questionnaire (KHQ) and proposed a threshold KHQ score for classifying hyperacusis. METHODS: In total, 112 patients with hyperacusis (group A) and 103 patients without hyperacusis (group B). The patients in group A were further classified into the following subgroups: subjects with hyperacusis as their chief complaint (n = 26, group A1) and subjects with hyperacusis accompanied by chief complaints of tinnitus and/or hearing loss (n = 86, group A2). RESULTS: The average total questionnaire score for patients in group A was 11.8 ± 9.7, which was statistically significantly higher than that of patients in group B, 5.7 ± 4.8. Cronbach's coefficients for internal consistency were high for the total score (0.92). The average total scores for groups A1 and A2 were 18.1 ± 11.1 and 9.9 ± 8.4, respectively, and the difference between the groups was statistically significant. CONCLUSIONS: We developed a Japanese version of the KHQ. It showed high reliability and validity; suggesting its usefulness in clinical practice. We propose that a total KHQ score of 16 is an appropriate cutoff for classifying hyperacusis.

11 Article Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan. 2017

Kitoh, Ryosuke / Nishio, Shin-Ya / Ogawa, Kaoru / Kanzaki, Sho / Hato, Naohito / Sone, Michihiko / Fukuda, Satoshi / Hara, Akira / Ikezono, Tetsuo / Ishikawa, Kotaro / Iwasaki, Satoshi / Kaga, Kimitaka / Kakehata, Seiji / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nakagawa, Takashi / Nishizaki, Kazunori / Noguchi, Yoshihiro / Sano, Hajime / Sato, Hiroaki / Suzuki, Mikio / Shojaku, Hideo / Takahashi, Haruo / Takeda, Hidehiko / Tono, Testuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan. · b Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · c Department of Otolaryngology , Ehime University School of Medicine , Toon , Japan. · d Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Nagoya , Japan. · e Department of Otolaryngology-Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · f Department of Otolaryngology, Faculty of Medicine , University of Tsukuba , Tsukuba , Japan. · g Department of Otorhinolaryngology , Saitama School of medicine , Moroyama , Japan. · h Department of Otolaryngology, Hospital , National Rehabilitation Center for Persons with Disabilities , Tokorozawa , Japan. · i Department of Otolaryngology , International University of Health and Welfare, Mita Hospital , Tokyo , Japan. · j Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan. · k Department of Otorhinolaryngology , Yamagata University School of Medicine , Yamagata , Japan. · l Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine , Hirosaki , Japan. · m Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi , Japan. · n Department of Otolaryngology , Kobe City Medical Center General Hospital , Kobe , Japan. · o Department of Otorhinolaryngology , Kyushu University Graduate School of Medical Sciences , Fukuoka , Japan. · p Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · q Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Japan. · r Department of Otorhinolaryngology , Iwate Medical University , Morioka , Japan. · s Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine , University of the Ryukyus , Nishihara , Japan. · t Department of Otorhinolaryngology, Head and Neck Surgery , University of Toyama , Toyama , Japan. · u Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki , Japan. · v Department of Otolaryngology , Okinaka Memorial Institute for Medical Research, Toranomon Hospital , Tokyo , Japan. · w Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki , Japan. · x Department of Otolaryngology , Yamaguchi University Graduate School of Medicine , Ube , Japan. · y Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28394652.

ABSTRACT: OBJECTIVES: Using a large-scale nationwide survey database, we investigated the epidemiological characteristics for idiopathic SSNHL in Japan. METHODS: The subjects for this analysis were patients registered in a Japanese multicentre database between April 2014 and March 2016. A total of 3419 idiopathic SSNHL patients were registered in the database, and the clinical characteristics of the idiopathic SSNHL patients were obtained. Several factors associated with the severity of hearing impairment and prognosis were then investigated. Statistical analysis was performed to clarify the factors associated with the severity of hearing impairment and prognosis. RESULTS: There were significant correlations between the severity of hearing loss and diabetes mellitus, kidney disease, past history of brain infarction, heart disease, age (under 16 years/elderly), and symptoms of vertigo/dizziness. We also analyzed the prognostic factors for idiopathic SSNHL, and found that the severity of hearing loss (Grade 3 or 4), heart disease, aged 65 years or over, time from onset to treatment (over 7 days), and symptoms of vertigo/dizziness were all significantly related to poor prognosis. CONCLUSION: The present large-scale clinical survey revealed current epidemiological trends for idiopathic sudden sensorineural hearing loss (SSNHL) and various factors associated with the severity of hearing impairment and prognosis.

12 Article Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan. 2017

Yoshida, Tadao / Sone, Michihiko / Kitoh, Ryosuke / Nishio, Shin-Ya / Ogawa, Kaoru / Kanzaki, Sho / Hato, Naohito / Fukuda, Satoshi / Hara, Akira / Ikezono, Tetsuo / Ishikawa, Kotaro / Iwasaki, Satoshi / Kaga, Kimitaka / Kakehata, Seiji / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nakagawa, Takashi / Nishizaki, Kazunori / Noguchi, Yoshihiro / Sano, Hajime / Sato, Hiroaki / Suzuki, Mikio / Shojaku, Hideo / Takahashi, Haruo / Takeda, Hidehiko / Tono, Testuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Nagoya , Japan. · b Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan. · c Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · d Department of Otolaryngology , Ehime University School of Medicine , Toon , Japan. · e Department of Otolaryngology-Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · f Department of Otolaryngology, Faculty of Medicine , University of Tsukuba , Tsukuba , Japan. · g Department of Otorhinolaryngology , Saitama School of Medicine , Moroyama , Japan. · h Department of Otolaryngology, Hospital , National Rehabilitation Center for Persons with Disabilities , Tokorozawa , Japan. · i Department of Otolaryngology , International University of Health and Welfare, Mita Hospital , Minato , Tokyo , Japan. · j Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan. · k Department of Otorhinolaryngology , Yamagata University School of Medicine , Yamagata , Japan. · l Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine , Hirosaki , Japan. · m Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi-City , Japan. · n Department of Otolaryngology , Kobe City Medical Center General Hospital , Kobe , Japan. · o Department of Otorhinolaryngology , Kyushu University Graduate School of Medical Sciences , Fukuoka , Japan. · p Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · q Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Japan. · r Department of Otorhinolaryngology , Iwate Medical University , Morioka , Japan. · s Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine , University of the Ryukyus , Nishihara , Japan. · t Department of Otorhinolaryngology, Head and Neck Surgery , University of Toyama , Toyama , Japan. · u Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki , Japan. · v Department of Otolaryngology , Okinaka Memorial Institute for Medical Research, Toranomon Hospital , Tokyo , Japan. · w Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki , Japan. · x Department of Otolaryngology, Yamaguchi University Graduate School of Medicine , Ube , Yamaguchi , Japan. · y Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28366083.

ABSTRACT: OBJECTIVES: The aim of this study was to investigate the differences between idiopathic sudden sensorineural hearing loss (SSNHL), and acute low-tone sensorineural hearing loss (ALHL) using the results of a nationwide survey database in Japan and to analyze the variables associated with their clinical features and the severity of hearing impairment, treatment, and prognosis. METHODS: Participants were patients registered between April 2014 and March 2016 in a multicenter epidemiological survey database involving 30 university hospitals and medical centers across Japan. Statistical analysis was performed to clarify the factors associated with their clinical characteristics and the severity of hearing impairment, treatment, and prognosis. RESULTS: Idiopathic SSNHL and ALHL differed significantly in terms of male-to-female ratio, age distribution, and time from onset to start of treatment. The treatment methods and hearing prognosis also differed markedly between the two diseases. A majority (92%) of idiopathic SSNHL patients were administered some type of corticosteroid, while half of the ALHL patients received corticosteroids and a diuretic agent. CONCLUSION: The results suggested that idiopathic SSNHL and ALHL belonged to different categories of inner ear disease.

13 Article Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients. 2017

Umesawa, Mitsumasa / Kobashi, Gen / Kitoh, Ryoshuke / Nishio, Shin-Ya / Ogawa, Kaoru / Hato, Naohito / Sone, Michihiko / Fukuda, Satoshi / Hara, Akira / Ikezono, Tetsuo / Ishikawa, Kotaro / Iwasaki, Satoshi / Kaga, Kimitaka / Kakehata, Seiji / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nakagawa, Takashi / Nishizaki, Kazunori / Noguchi, Yoshihiro / Sano, Hajime / Sato, Hiroaki / Suzuki, Mikio / Shojaku, Hideo / Takahashi, Haruo / Takeda, Hidehiko / Tono, Tetsuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Public Health , Dokkyo Medical University, School of Medicine , Mibu , Japan. · b Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan. · c Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · d Department of Otolaryngology , Ehime University School of Medicine , Toon , Japan. · e Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Nagoya , Japan. · f Department of Otolaryngology-Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · g Department of Otolaryngology, Faculty of Medicine , University of Tsukuba , Tsukuba , Japan. · h Department of Otorhinolaryngology , Saitama School of Medicine , Moroyama , Japan. · i Department of Otolaryngology , Hospital, National Rehabilitation Center for Persons with Disabilities , Tokorozawa , Japan. · j Department of Otolaryngology , International University of Health and Welfare, Mita Hospital , Tokyo , Japan. · k Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan. · l Department of Otorhinolaryngology , Yamagata University School of Medicine , Yamagata , Japan. · m Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine , Hirosaki , Japan. · n Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi , Japan. · o Department of Otolaryngology , Kobe City Medical Center General Hospital , Kobe , Japan. · p Department of Otorhinolaryngology , Kyushu University Graduate School of Medical Sciences , Fukuoka , Japan. · q Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · r Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Japan. · s Department of Otorhinolaryngology , Iwate Medical University , Morioka , Japan. · t Department of Otorhinolaryngology, Head and Neck Surgery , Graduate School of Medicine, University of the Ryukyus , Nishihara , Japan. · u Department of Otorhinolaryngology, Head and Neck Surgery , University of Toyama , Toyama , Japan. · v Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki , Japan. · w Department of Otolaryngology , Okinaka Memorial Institute for Medical Research, Toranomon Hospital , Tokyo , Japan. · x Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki , Japan. · y Department of Otolaryngology , Yamaguchi University Graduate School of Medicine , Ube , Japan. · z Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28366076.

ABSTRACT: 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/m 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.

14 Article Epidemiological survey of acute low-tone sensorineural hearing loss. 2017

Sato, Hiroaki / Kuwashima, Shigeru / Nishio, Shin-Ya / Kitoh, Ryosuke / Fukuda, Satoshi / Hara, Akira / Hato, Naohito / Ikezono, Tetsuo / Ishikawa, Kotaro / Iwasaki, Satoshi / Kaga, Kimitaka / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nakagawa, Takashi / Nishizaki, Kazunori / Noguchi, Yoshihiro / Ogawa, Kaoru / Sano, Hajime / Sone, Michihiko / Shojaku, Hideo / Takahashi, Haruo / Tono, Testuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Otolaryngology-Head & Neck Surgery , Iwate Medical University , Morioka , Japan. · b Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan. · c Department of Otolaryngology-Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · d Department of Otolaryngology, Faculty of Medicine , University of Tsukuba , Tsukuba , Japan. · e Department of Otolaryngology , Ehime University School of Medicine , Toon , Japan. · f Department of Otorhinolaryngology , Saitama School of Medicine , Moroyama , Japan. · g Department of Otolaryngology, Hospital , National Rehabilitation Center for Persons with Disabilities , Tokorozawa , Japan. · h Department of Otolaryngology , International University of Health and Welfare, Mita Hospital , Tokyo , Japan. · i Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan. · j Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine , Hirosaki , Japan. · k Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi , Japan. · l Department of Otolaryngology , Kobe City Medical Center General Hospital , Kobe , Japan. · m Department of Otorhinolaryngology , Kyushu University Graduate School of Medical Sciences , Fukuoka , Japan. · n Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · o Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · p Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Japan. · q Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Nagoya , Japan. · r Department of Otorhinolaryngology, Head and Neck Surgery , University of Toyama , Toyama , Japan. · s Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki , Japan. · t Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki , Japan. · u Department of Otolaryngology , Yamaguchi University Graduate School of Medicine , Ube , Yamaguchi , Japan. · v Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28366042.

ABSTRACT: OBJECTIVES: A nationwide epidemiological survey involving 23 hospitals in Japan was conducted and the predictive values of demographic data were examined statistically. METHODS: A total of 642 patients from 23 hospitals, including 20 university hospitals, in Japan were enrolled in the study. Age ranged from 8 to 87 years, and all were diagnosed with acute low-tone sensorineural hearing loss (ALHL) between 1994 and 2016. Demographic data for the patients, such as symptoms, gender, mean age, and distribution of ALHL grading, were collected and analyzed in relation to prognosis using Student's t-test, χ RESULTS: Female gender (p < .013), younger age (p < .001), low-grade hearing loss (p < .001), and shorter interval between onset and initial visit (p < .004) were significantly predictive of a good prognosis. The prognosis for definite ALHL was significantly better than that for probable ALHL (p < .007). CONCLUSIONS: The severity of initial hearing loss, interval between onset and initial visit and age were important prognostic indicators for ALHL, while female gender was an important prognostic indicator peculiar to ALHL.

15 Article The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. 2017

Okada, Masahiro / Hato, Naohito / Nishio, Shin-Ya / Kitoh, Ryosuke / Ogawa, Kaoru / Kanzaki, Sho / Sone, Michihiko / Fukuda, Satoshi / Hara, Akira / Ikezono, Tetsuo / Ishikawa, Kotaro / Iwasaki, Satoshi / Kaga, Kimitaka / Kakehata, Seiji / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nakagawa, Takashi / Nishizaki, Kazunori / Noguchi, Yoshihiro / Sano, Hajime / Sato, Hiroaki / Suzuki, Mikio / Shojaku, Hideo / Takahashi, Haruo / Takeda, Hidehiko / Tono, Tetsuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Otolaryngology , Ehime University School of Medicine , Toon , Japan. · b Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan. · c Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · d Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Nagoya , Japan. · e Department of Otolaryngology-Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · f Department of Otolaryngology, Faculty of Medicine , University of Tsukuba , Tsukuba , Japan. · g Department of Otorhinolaryngology , Saitama School of Medicine , Moroyama , Japan. · h Department of Otolaryngology, Hospital , National Rehabilitation Center for Persons with Disabilities , Tokorozawa , Japan. · i Department of Otolaryngology , International University of Health and Welfare, Mita Hospital , Tokyo , Japan. · j Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan. · k Department of Otorhinolaryngology , Yamagata University School of Medicine , Yamagata , Japan. · l Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine , Hirosaki , Japan. · m Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi , Japan. · n Department of Otolaryngology , Kobe City Medical Center General Hospital , Kobe , Japan. · o Department of Otorhinolaryngology , Kyushu University Graduate School of Medical Sciences , Fukuoka , Japan. · p Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · q Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Japan. · r Department of Otorhinolaryngology , Iwate Medical University , Morioka , Japan. · s Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine , University of the Ryukyus , Nishihara , Japan. · t Department of Otorhinolaryngology, Head and Neck Surgery , University of Toyama , Toyama , Japan. · u Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki , Japan. · v Department of Otolaryngology , Okinaka Memorial Institute for Medical Research, Toranomon Hospital , Tokyo , Japan. · w Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki , Japan. · x Department of Otolaryngology , Yamaguchi University Graduate School of Medicine , Ube , Japan. · y Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28359220.

ABSTRACT: OBJECTIVE: To investigate the hearing prognosis of idiopathic sudden sensorineural hearing loss (SSNHL) treated with different initial therapies. METHODS: Subjects consisted of patients diagnosed with idiopathic SSNHL within 7 days from onset and showing severe hearing loss (≥60 dB), who were registered in a Japanese multicenter database between April 2014 and March 2016. Subjects were divided into four groups according to initial therapy: (1) steroids, (2) steroids + Prostaglandins (PGs), (3) intratympanic steroids (ITS), and (4) no steroids. Hearing outcomes were compared among the groups. RESULTS: In total, 1305 patients were enrolled. The final hearing level and hearing gain of patients treated with steroids + PGs were significantly higher than those of patients treated with steroids alone or no steroids. The ratio of good prognosis (complete recovery or marked improvement) in patients treated with steroids + PGs was higher than that in patients treated with steroids alone or no steroids. There was no difference in the prognosis of patients treated with steroids alone or no steroids. CONCLUSION: A large number of patients with idiopathic SSNHL were registered in a multicenter database. PG use in combination with steroid administration was associated with a good hearing prognosis in patients with severe hearing loss.

16 Article The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan. 2017

Morita, Shinya / Fujiwara, Keishi / Fukuda, Atsushi / Fukuda, Satoshi / Nishio, Shin-Ya / Kitoh, Ryosuke / Hato, Naohito / Ikezono, Tetsuo / Ishikawa, Kotaro / Kaga, Kimitaka / Matsubara, Atsushi / Matsunaga, Tatsuo / Murata, Takaaki / Naito, Yasushi / Nishizaki, Kazunori / Ogawa, Kaoru / Sano, Hajime / Sato, Hiroaki / Sone, Michihiko / Suzuki, Mikio / Takahashi, Haruo / Tono, Tetsuya / Yamashita, Hiroshi / Yamasoba, Tatsuya / Usami, Shin-Ichi. ·a Department of Otolaryngology - Head and Neck Surgery , Hokkaido University Graduate School of Medicine , Sapporo , Japan. · b Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto, Nagano , Japan. · c Department of Otolaryngology , Ehime University School of Medicine, Shigenobu-cho, Toon City , Ehime , Japan. · d Department of Otorhinolaryngology , Saitama School of Medicine , Iruma-gun, Saitama , Japan. · e Department of Otolaryngology, Hospital , National Rehabilitation Center for Persons with Disabilities , Tokorozawa City , Saitama Prefecture , Japan. · f Division of Hearing and Balance Research , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Meguro-ku , Tokyo , Japan. · g Department of Otorhinolaryngology , Hirosaki University Graduate School of Medicine, Bunkyo-cho , Hirosaki-shi , Japan. · h Department of Otolaryngology , Gunma University Graduate School of Medicine , Maebashi-City , Japan. · i Department of Otolaryngology , Kobe City Medical Center General Hospital , Chuo-ku, Kobe-City , Hyogo , Japan. · j Department of Otolaryngology-Head and Neck Surgery , Okayama University Graduate School of Medicine, Dentistry and Pharmacy , Okayama , Japan. · k Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan. · l Department of Otolaryngology , Kitasato University School of Medicine , Sagamihara , Kanagawa , Japan. · m Department of Otorhinolaryngology , Iwate Medical University , Morioka , Iwate , Japan. · n Department of Otorhinolaryngology , Nagoya University, Graduate School of Medicine , Showa-ku, Nagoya , Japan. · o Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine , University of Ryukyu , Nishihara-cho , Nakagami-gun, Okinawa , Japan. · p Department of Otolaryngology , Nagasaki University Faculty of Medicine , Nagasaki-shi, Nagasaki , Japan. · q Department of Otolaryngology, Faculty of Medicine , University of Miyazaki , Miyazaki-shi, Miyazaki , Japan. · r Department of Otolaryngology , Yamaguchi University Graduate School of Medicine , Ube City , Yamaguchi , Japan. · s Department of Otolaryngology, Faculty of Medicine , University of Tokyo , Bunkyo-ku , Tokyo , Japan. ·Acta Otolaryngol · Pubmed #28338374.

ABSTRACT: CONCLUSIONS: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare cases of bilateral total deafness, cochlear implants were beneficial for speech perception. Vaccination against mumps is recommended to prevent mumps-associated hearing loss. OBJECTIVE: The objective of this study is to investigate the clinical characteristics of hearing loss due to mumps and to evaluate hearing outcomes. SUBJECTS AND METHODS: The clinical parameters were analyzed under a retrospective multi-institutional study design in patients diagnosed with hearing loss due to mumps at the Otolaryngology departments of 19 hospitals between 1987 and 2016. RESULTS: Sixty-seven patients with hearing loss due to mumps were enrolled. The study population consisted of 35 males and 32 females, ranging in age from 1 to 54, with a median age of 9.5 years. Sixty-three patients presented with unilateral, and 4 with bilateral hearing loss. Profound hearing loss was observed in 65 ears. Only one ear with severe hearing loss showed complete recovery. Four patients with bilateral hearing loss received cochlear implant surgery. Most of the patients with hearing loss due to mumps had no history of vaccination.

17 Article Mitochondrial mutations in maternally inherited hearing loss. 2017

Mutai, Hideki / Watabe, Takahisa / Kosaki, Kenjiro / Ogawa, Kaoru / Matsunaga, Tatsuo. ·Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan. · Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan. · Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. matsunagatatsuo@kankakuki.go.jp. ·BMC Med Genet · Pubmed #28320335.

ABSTRACT: BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL. Sequencing of additional mtDNA regions was performed for five subjects meeting the clinical criteria, but the screening results were negative. RESULTS: Among the nine cases meeting the five clinical criteria detailed above, three had the m.1555A > G mutation in MTRNR1, one had a m.3243A > G mutation in MTTL1, and one case had a m.7511T > C mutation in MTTS1. In the family with the m.7511T > C mutation, penetrance of SNHL among maternally related subjects was 9/17 (53%). The age at onset varied from birth (congenital) to adulthood. Hearing levels varied from normal to moderately impaired, unlike previously reported subjects with this mutation, where some maternal family members presented with profound SNHL. Family members with the m.7511T > C mutation and SNHL did not exhibit any specific clinical characteristics distinct from those of other individuals with SNHL and different mtDNA mutations. Among the 136 probands who did not meet the criteria detailed above, one case had the m.1555A > G mutation, and three cases had the m.3243A > G mutation. CONCLUSIONS: Since five of nine probands with the clinical criteria used in this study had mtDNA mutations, these criteria may be helpful for identification of candidate patients likely to have mtDNA mutations.

18 Article Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss. 2017

Hosoya, Makoto / Fujioka, Masato / Sone, Takefumi / Okamoto, Satoshi / Akamatsu, Wado / Ukai, Hideki / Ueda, Hiroki R / Ogawa, Kaoru / Matsunaga, Tatsuo / Okano, Hideyuki. ·Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. · Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. · Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan; Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. · Laboratory for Synthetic Biology, RIKEN Quantitative Biology Center, 2-2-3 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo 650-0047, Japan. · Laboratory for Synthetic Biology, RIKEN Quantitative Biology Center, 2-2-3 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo 650-0047, Japan; Department of Systems Pharmacology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan; CREST, Japan Science and Technology Agency, 4-1-8 Honcho, Kawaguchi, Saitama 332-0012, Japan. · The Laboratory of Auditory Disorders and Division of Hearing and Balance Research, National Institute of Sensory Organs, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan; Medical Genetics Center, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan. · Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. Electronic address: hidokano@a2.keio.jp. ·Cell Rep · Pubmed #28052261.

ABSTRACT: Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin. Loss of pendrin function as an anion exchanger is thought to be causative, but rodent models do not exhibit progressive deafness. Here, we report a degenerative phenotype exhibiting mutant pendrin aggregates and increased susceptibility to cellular stresses in cochlear epithelial cells induced from patient-derived induced pluripotent stem cells (iPSCs). These degenerative phenotypes were rescued by site-specific gene corrections. Moreover, low-dose rapamycin and metformin reduced aggregation and cell death. Our results provide an unexpected, comprehensive understanding of deafness due to "degenerative cochlear disease" and may contribute to rational therapeutic development. This iPSC-based disease model provides an approach to the study of pathogenesis and therapeutic development for hereditary hearing loss.

19 Article Tympanoplasty for chondrodysplasia punctata: Case report. 2017

Hosoya, Makoto / Kanzaki, Sho / Wakabayashi, Satoko / Ogawa, Kaoru. ·Department of Otorhinolaryngology-Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. · Department of Otorhinolaryngology-Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Electronic address: skan@a7.keio.jp. ·Auris Nasus Larynx · Pubmed #27666342.

ABSTRACT: Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty.

20 Article Frequency and specific characteristics of the incomplete partition type III anomaly in children. 2017

Kanno, Ayako / Mutai, Hideki / Namba, Kazunori / Morita, Noriko / Nakano, Atsuko / Ogahara, Noboru / Sugiuchi, Tomoko / Ogawa, Kaoru / Matsunaga, Tatsuo. ·Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. · Department of Otolaryngology, Inagi Municipal Hospital, Tokyo, Japan. · Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan. · Department of Otolaryngology, Kobari General Hospital, Chiba, Japan. · Division of Otolaryngology, Chiba Children's Hospital, Chiba, Japan. · Department of Otorhinolaryngology, Kanagawa Children's Medical Center, Kanagawa, Japan. · Department of Otolaryngology, Kanto Rosai Hospital, Kanagawa, Japan. · Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. ·Laryngoscope · Pubmed #27577114.

ABSTRACT: OBJECTIVES/HYPOTHESIS: To determine the frequency of the incomplete partition type III anomaly and the genetic and clinical features associated with POU3F4 mutations in children with hearing loss. STUDY DESIGN: Retrospective case series from 2000 to 2014 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals. METHODS: A total of 1,004 patients (from 938 families) who had hearing loss by 10 years of age and had undergone computed tomography scanning of their temporal bones were enrolled in this genetic, clinical, and radiological study. RESULTS: The incomplete partition type III anomaly was identified in six patients (0.6%), each of whom had an enlargement of the vestibular aqueduct at the end close to the vestibule. The six patients also had POU3F4 variants, and a genetic analysis revealed frameshift deletions in three patients, a missense variant in two patients of the same family, and a large deletion in one patient. Three of the six patients with POU3F4 variants were sporadic cases, and in one patient the genetic mutation occurred de novo. CONCLUSIONS: It was indicated that POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1663-1669, 2017.

21 Article Successful continual intratympanic steroid injection therapy in a patient with refractory sensorineural hearing loss accompanied by relapsing polychondritis. 2017

Wasano, Koichiro / Tomisato, Shuta / Yamamoto, Sayuri / Suzuki, Noriomi / Kawasaki, Taiji / Ogawa, Kaoru. ·Department of Otolaryngology, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan; Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan. Electronic address: wasano@a5.keio.jp. · Department of Otolaryngology, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan. ·Auris Nasus Larynx · Pubmed #27552828.

ABSTRACT: OBJECTIVE: To report the treatment efficacy of continual intratympanic steroid injection (ITSI) therapy in a patient with refractory sensorineural hearing loss accompanied by relapsing polychondritis. PATIENT: A 49-year-old female diagnosed with relapsing polychondritis at the age of 45 years and who had been treated with corticosteroids and immunosuppressants developed sensorineural hearing loss in the left ear. INTERVENTION: Her unilateral hearing loss did not recover despite receiving one cyclophosphamide pulse treatment, one methylprednisolone pulse treatment, and weekly leukapheresis. Thus, we decided to initiate weekly ITSI therapy. MAIN OUTCOME MEASURE: Pure tone audiometry. RESULTS: A week after the first ITSI treatment, the patient's hearing improved. We continued ITSI therapy and attempted to extend the interval between treatments, but her hearing worsened when ITSI therapy was delivered at 2- to 3-week intervals. Thus, we returned ITSI therapy to once per week for 21 months (total of 71 treatments). She experienced no adverse events, like tympanic perforation, and 1 year after terminating the therapy, her hearing remained stable and did not worsen. CONCLUSIONS: Continual, weekly ITSI therapy was effective in treating sensorineural hearing loss accompanied by relapsing polychondritis. ITSI therapy may be a promising treatment option for sensorineural hearing loss caused by autoimmune disease.

22 Article A nationwide study on enlargement of the vestibular aqueduct in Japan. 2017

Noguchi, Yoshihiro / Fukuda, Satoshi / Fukushima, Kunihiro / Gyo, Kiyofumi / Hara, Akira / Nakashima, Tsutomu / Ogawa, Kaoru / Okamoto, Makito / Sato, Hiroaki / Usami, Shin-Ichi / Yamasoba, Tatsuya / Yokoyama, Tetsuji / Kitamura, Ken. ·Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan; Department of Otolaryngology, Tokyo Medical and Dental University School of Medicine, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan. Electronic address: noguchi.oto@gmail.com. · Department of Otolaryngology Head and Neck Surgery, Graduate School of Medicine, University of Hokkaido, Kita 15, Nishi 7, Kita-ku, Sapporo, Hokkaido 060-8683, Japan. · Department of Otolaryngology, School of Medicine, Fukuoka University, 8-19-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan. · Department of Otolaryngology, Takanoko Hospital, Takanoko-Cho 525-1, Matsuyama City, Ehime 790-0925, Japan. · Department of Otolaryngology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan. · Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550, Japan; Ichinomiya Medical Treatment & Habilitation Center, 1679-2 Tomida, Ichinomiya, Aichi 496-0018, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University, School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160-8582, Japan. · Department of Otolaryngology, Kitasato University, School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 228-8555, Japan. · Department of Otolaryngology-Head & Neck Surgery, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate 020-8505, Japan. · Department of Otolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. · Department of Otolaryngology-Head & Neck Surgery, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. · Department of Health Promotion, National Institute of Public Health, 2-3-6 Minami, Wako, Saitama 351-0197, Japan. · Department of Otolaryngology, Tokyo Medical and Dental University School of Medicine, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan. ·Auris Nasus Larynx · Pubmed #27160786.

ABSTRACT: 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.

23 Article Distinct Expression Pattern of a Deafness Gene, KIAA1199, in a Primate Cochlea. 2016

Hosoya, Makoto / Fujioka, Masato / Okano, Hideyuki / Ogawa, Kaoru. ·Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. · Department of Physiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. ·Biomed Res Int · Pubmed #27403418.

ABSTRACT: Deafness is one of the most common types of congenital impairments, and at least half of the cases are caused by hereditary mutations. Mutations of the gene KIAA1199 are associated with progressive hearing loss. Its expression is abundant in human cochlea, but interestingly the spatial expression patterns are different between mouse and rat cochleae; the pattern in humans has not been fully investigated. We performed immunohistochemical analysis of a nonhuman primate, common marmoset (Callithrix jacchus), cochlea with a KIAA1199-specific antibody. In the common marmoset cochlea, KIAA1199 protein expression was more widespread than in rodents, with all epithelial cells, including hair cells, expressing KIAA1199. Our results suggest that the primate pattern of KIAA1199 expression is wider in comparison with rodents and may play an essential role in the maintenance of cochlear epithelial cells.

24 Article Overlapping expression of anion exchangers in the cochlea of a non-human primate suggests functional compensation. 2016

Hosoya, Makoto / Fujioka, Masato / Kobayashi, Reona / Okano, Hideyuki / Ogawa, Kaoru. ·Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi, Shinjuku-ku 160-8582, Japan. · Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi, Shinjuku-ku 160-8582, Japan. Electronic address: masato@2002.jukuin.keio.ac.jp. · Keio University School of Medicine, Department of Physiology, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. ·Neurosci Res · Pubmed #27091614.

ABSTRACT: Ion homeostasis in the inner ear is essential for proper hearing. Anion exchangers are one of the transporters responsible for the maintenance of homeostasis, but their expression profile in the primate cochlea has not been fully characterized. However, species-specific overlapping expression patterns and functional compensation in other organs, such as the kidney, pancreas and small intestine, have been reported. Here, we determined the expression patterns of the anion exchangers SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A11, SLC4A2 and SLC4A3 in the cochlea of a non-human primate, the common marmoset (Callithrix jacchus). Although the pattern of expression of SLC26A4 and SLC26A5 was similar to that in rodents, SLC26A7, SLC4A2, SLC4A3 exhibited different distributions. Notably, five transporters, SLC26A4, SLC26A6, SLC26A11 SLC4A2 and SLC4A3, were expressed in the cells of the outer sulcus. Our results reveal a species-specific distribution pattern of anion exchangers in the cochlea, particularly in the outer sulcus cells, suggesting functional compensation among these exchangers. This "primate-specific" pattern may be related to the human-specific hearing loss phenotypes of channelopathy disorders, including the SLC26A4-related diseases Pendred syndrome/DFNB4.

25 Article Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder. 2016

Wasano, Koichiro / Matsunaga, Tatsuo / Ogawa, Kaoru / Kunishima, Shinji. ·Department of Otolaryngology, Japanese Red Cross Shizuoka Hospital, 8-2 Outemachi, Aoi-ku, Shizuoka, 420-0853, Japan. wasano@a5.keio.jp. · Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. wasano@a5.keio.jp. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan. wasano@a5.keio.jp. · Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. · Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan. · Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan. · Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, 4-1-1 Sannomaru, Naka-ku, Nagoya, Aichi, 460-0001, Japan. ·Eur Arch Otorhinolaryngol · Pubmed #26942920.

ABSTRACT: MYH9 disorder is a rare autosomal-dominant disorder. We previously reported that it is caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9 disorder causes congenital macrothrombocytopenia accompanied by progressive sensorineural hearing loss, nephropathy, and cataract. However, there are few reports that describe the audiological features of MYH9 disorder. The objective of this study was to characterize auditory and other phenotypes of patients with MYH9 disorder. We examined nine subjects from one Japanese family. Audiological, ophthalmological, hematological, and imaging examinations were used to assess clinical features. We carried out genetic analysis of the causative gene, MYH9. Five subjects exhibited macrothrombocytopenia and neutrophil cytoplasmic inclusion bodies. Immunofluorescence analysis of neutrophil NMMHC-IIA revealed abnormal type II localization. Two subjects had high-frequency dominant hearing loss, which was adult onset and progressive. Only one subject had cataract. MYH9 sequencing analysis of all thrombocytopenic subjects revealed a heterozygous c.4270G>A mutation in exon 30 (p.D1424N). We identified five patients with MYH9 disorder from the family. The hearing impairment associated with MYH9 disorder in this family was characterized as adult onset, progressive, and high-frequency dominant. Hematological manifestations of MYH9 disorder show complete penetrance, whereas extra-hematological manifestations show incomplete penetrance and variable expressivity in this family.

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