Publications by authors named "Koichiro Wasano"

25 Publications

  • Page 1 of 1

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers (Basel) 2021 Aug 9;13(16). Epub 2021 Aug 9.

Laboratory of Laboratory/Sports Medicine, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba 305-8577, Ibaraki, Japan.

The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype-phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (, , , , , , and ) were tested using Sanger sequencing. Overall, 120/370 (32.4%) patients had pathogenic or likely pathogenic variants, with 81/327 (24.8%) in AS presentation. was the most frequently mutated gene (57, 15.4%), followed by (27, 7.3%), and (18, 4.9%). The incidence of metastatic PPGL was high in carriers (21/57, 36.8%). A few unique recurrent variants ( c.137G>A and c.470delT) were detected in this Japanese cohort, highlighting ethnic differences. In summary, almost a quarter of patients with apparently sporadic PPGL in Japan harboured germline variants of the targeted genes. This study reinforces the recommendation in Western guidelines to perform genetic testing for PPGL and genotype-based clinical decision-making in the Japanese population.
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http://dx.doi.org/10.3390/cancers13164014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394264PMC
August 2021

Patterns of hearing changes in women and men from denarians to nonagenarians.

Lancet Reg Health West Pac 2021 Apr 24;9:100131. Epub 2021 Mar 24.

Department of Otolaryngology-Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi Shinjuku, Tokyo 160-8582, Japan.

Background: Hearing loss needs to be diagnosed and treated early, especially in older individuals, since presbycusis potentially increases the risk of depression and dementia. However, standard data on hearing thresholds across the life-span in Japanese individuals are lacking.

Methods: In a retrospective consecutive sample of 10681 native-Japanese speakers (37.3% men; 10-99 years; left-right hearing threshold difference of <15 dB for all tested pure tones; free of external, middle, or inner ear disease), we determined standard age-decade and sex-specific pure-tone air-conduction (125, 250, 500, 1000, 2000, 4000, and 8000 Hz) hearing threshold norms. The main outcome measures were pure-tone averages for both ears by age-decade and sex.

Findings: For participants in their 20s, hearing thresholds at higher frequencies (>1000 Hz) were significantly worse in men than in women. For participants ≥70 years, hearing thresholds at low frequencies were higher in women. Hearing thresholds at 1000, 2000, and 4000 Hz tended to deteriorate, starting in the teenage years through the 50s, with some decades showing significantly worse decline. Sex differences were absent in the youngest and oldest groups.

Interpretation: Standard age- and sex-specific audiometric data reported here for Japanese individuals over nine age-decades are based on the largest dataset analyzed to date. While hearing thresholds of men and women in the very young and the very old age groups were indistinguishable in their cohorts, patterns of hearing changes for other age cohorts differed by direction and sex.

Funding: The authors had no outside funding for this study.
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http://dx.doi.org/10.1016/j.lanwpc.2021.100131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8315603PMC
April 2021

Effects on cervical vestibular-evoked myogenic potentials of four clinically used head and neck measurement positions in healthy subjects.

Acta Otolaryngol 2021 Aug 27;141(8):729-735. Epub 2021 Jul 27.

Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

Background: The most reliable head and neck position for cervical vestibular-evoked myogenic potentials (cVEMPs) measurements yet to be determined.

Aims/objectives: To assess how four body positions used during clinical recordings of cVEMPs affect cVEMP parameters.

Material And Method: cVEMPs of 10 healthy subjects (26-50 years old) were recorded in four body positions: sitting/head rotated; supine/head rotated; semi-recumbent/head rotated and elevated; supine/head elevated.

Results: Mean background sternocleidomastoid muscle (SCM) electrical activity was significantly higher in positions C and D than in positions A and B. The latencies of p13 and n23 differed significantly among the four positions. Raw p13-n23 complex amplitude was significantly greater in positions C and D than in A and B. These differences were reduced when amplitudes were corrected by SCM activity. For positions A and B, one and two subjects, respectively, had an abnormal raw asymmetry ratio (AR). After correction, all subjects had normal ARs in all positions.

Conclusions And Significance: Body positions in which the head is elevated produce a quicker and larger cVEMP response compared to positions in which the head is not elevated. The difference in ARs among positions can be ignored as long as the correction is made.
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http://dx.doi.org/10.1080/00016489.2021.1943520DOI Listing
August 2021

Sudden sensorineural hearing loss in patients with vestibular schwannoma.

Sci Rep 2021 01 21;11(1):1624. Epub 2021 Jan 21.

Department of Otolaryngology-Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan.

Clinical features of sudden sensorineural hearing loss (SSNHL) associated with vestibular schwannoma (VS) are not fully understood. Determining a treatment plan and explaining it to patients requires clinicians to clearly understand the clinical features related to the tumor, including SSNHL. To identify the full range of clinical features of VS-associated SSNHL, especially recovery of hearing following multiple episodes of SSNHL and what factors predict recovery and recurrence. A multicenter retrospective chart review was conducted in seven tertiary care hospitals between April 1, 2011, and March 31, 2020. We collected and analyzed dose of administered steroid, pure-tone audiometry results, and brain MRIs of patients diagnosed with VS-associated SSNHL. Seventy-seven patients were included. They experienced 109 episodes of audiogram-confirmed SSNHL. The highest proportion of complete recoveries occurred in patients with U-shaped audiograms. The recovery rates for the first, second, and third and subsequent episodes of SSNHL were 53.5%, 28.0%, and 9.1%, respectively. Recovery rate decreased significantly with increasing number of SSNHL episodes (P =0 .0011; Cochran-Armitage test). After the first episode of SSNHL, the recurrence-free rate was 69.9% over 1 year and 57.7% over 2 years; the median recurrence time was 32 months. Logarithmic approximation revealed that there is a 25% probability that SSNHL would recur within a year. SSNHL in patients with VS is likely to recur within one year in 25% of cases. Also, recovery rate decreases as a patient experiences increasing episodes of SSNHL.
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http://dx.doi.org/10.1038/s41598-020-80366-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820278PMC
January 2021

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

PLoS Genet 2020 04 15;16(4):e1008643. Epub 2020 Apr 15.

Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro, Tokyo, Japan.

Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss have yet to be identified. Using whole-exome analysis of three families with congenital, severe-to-profound hearing loss, we identified a missense variant of SLC12A2 in five affected members of one family showing a dominant inheritance mode, along with de novo splice-site and missense variants of SLC12A2 in two sporadic cases, as promising candidates associated with hearing loss. Furthermore, we detected another de novo missense variant of SLC12A2 in a sporadic case. SLC12A2 encodes Na+, K+, 2Cl- cotransporter (NKCC) 1 and plays critical roles in the homeostasis of K+-enriched endolymph. Slc12a2-deficient mice have congenital, profound deafness; however, no human variant of SLC12A2 has been reported as associated with hearing loss. All identified SLC12A2 variants mapped to exon 21 or its 3'-splice site. In vitro analysis indicated that the splice-site variant generates an exon 21-skipped SLC12A2 mRNA transcript expressed at much lower levels than the exon 21-included transcript in the cochlea, suggesting a tissue-specific role for the exon 21-encoded region in the carboy-terminal domain. In vitro functional analysis demonstrated that Cl- influx was significantly decreased in all SLC12A2 variants studied. Immunohistochemistry revealed that SLC12A2 is located on the plasma membrane of several types of cells in the cochlea, including the strial marginal cells, which are critical for endolymph homeostasis. Overall, this study suggests that variants affecting exon 21 of the SLC12A2 transcript are responsible for hereditary hearing loss in humans.
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http://dx.doi.org/10.1371/journal.pgen.1008643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159186PMC
April 2020

Age-related change of auditory functional connectivity in Human Connectome Project data and tinnitus patients.

Laryngoscope Investig Otolaryngol 2020 Feb 5;5(1):132-136. Epub 2020 Feb 5.

Department of Otolaryngology, Head and Neck Surgery Keio University, School of Medicine Shinjuku City Tokyo Japan.

Background: We reported that tinnitus patients showed reduced levels of auditory functional connectivity (FC) in comparison with normal hearing control subjects, and that we succeeded in objective diagnosis of tinnitus with 86% sensitivity and 74% specificity by focusing only on auditory-related FC. However, the age-related change of auditory FC is not clarified. In this study, we examine age-related change of the auditory FC using the database of Human Connectome Project (HCP) and compared with our database of tinnitus patients.

Method: From the HCP database HCP Lifespan Pilot project, we studied five age groups, 8 to 9 years old, 14 to 15, 25 to 35, 45 to 55, and 65 to 75. We also applied our tinnitus patients' resting-state functional magnetic resonance imaging (fMRI) database, which is divided into three generations; 20 to 40 years old, 40 to 60, and 60 to 80 to compare with the HCP database. The resting state fMRI analyses were performed using the CONN toolbox version 18. As auditory-related regions, Heschl's gyrus, planum temporale, planum polare, operculum, insular cortex, and superior temporal gyrus were set as the regions of interest from our previous reports.

Result: Auditory FC is strongest among adolescents and reduces with age. But the auditory FC of tinnitus patients were significantly less than those of HCP data in each generation.

Conclusion: Although auditory FC decreases with age, tinnitus patients have less auditory FC compared with age-matched controls. The age-matched cutoff values are necessary for an objective diagnosis of tinnitus with resting state fMRI.
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http://dx.doi.org/10.1002/lio2.338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042643PMC
February 2020

Thyroid lobe size predicts risk of postoperative temporary recurrent laryngeal nerve paralysis.

Laryngoscope Investig Otolaryngol 2019 Dec 6;4(6):708-713. Epub 2019 Nov 6.

Department of Otolaryngology Head and Neck Surgery, Keio University School of Medicine Tokyo Japan.

Objectives: In patients who had undergone thyroidectomy in Japan for benign tumor, we determined whether thyroid lobe size correlates with temporary recurrent laryngeal nerve paralysis (T-RLNP).

Methods: We retrospectively collected medical record data on usage of intraoperative neuromonitoring, laterality of thyroidectomy, amount of bleeding during surgery, duration of surgery, and whether the surgeon was a board certified otorhinolaryngologist as determined by the Oto-Rhino-Laryngological Society of Japan. Thyroid size was measured in preoperative axial computed tomography (CT) images. Receiver operating characteristic (ROC) curve analysis was used to determine the thyroid size that predicted a high risk of T-RLNP or permanent recurrent laryngeal nerve paralysis (P-RLNP).

Results: Of the 146 eligible patients identified, 9 (6.2%) developed T-RLNP and 2 (1.4%) developed P-RLNP. The amount of bleeding during thyroidectomy was significantly greater in T-RLNP patients than in P-RLNP patients. Thyroid sizes in CT images were significantly larger in T-RLNP patients compared to patients who did not develop RLNP (referred to hereafter as N-RLNP). ROC analysis revealed that 1.3% of thyroid lobes with an area of less than 1000.0 mm, and 9.9% of thyroid lobes with an area of greater than 1000.0 mm were at risk for T-RLNP.

Conclusion: We presented evidence that thyroid sizes, as measured on preoperative axial CT images, were larger in T-RLNP patients than in N-RLNP patients. Our results indicate a connection between benign thyroid tumor stretch injuries and T-RLNP.

Level Of Evidence: IV.
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http://dx.doi.org/10.1002/lio2.321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929579PMC
December 2019

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Hum Mutat 2020 01 26;41(1):316-331. Epub 2019 Oct 26.

Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.

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.
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http://dx.doi.org/10.1002/humu.23930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930342PMC
January 2020

Acquisition of resistance to androgen deprivation therapy in salivary duct carcinoma: A case report.

Rare Tumors 2018 19;10:2036361318798867. Epub 2018 Sep 19.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Salivary duct carcinoma is a relatively rare salivary cancer, and most cases are androgen receptor -positive. Salivary duct carcinoma growth is suggested to be androgen dependent, which can reportedly be controlled by androgen deprivation therapy. However, the effectiveness and underlying molecular mechanisms of androgen deprivation therapy for salivary duct carcinoma remain unknown. We report a salivary duct carcinoma case (65-year-old man) arising from the parotid gland with metastasis to the neck lymph nodes and lungs. Androgen deprivation therapy was performed according to the same protocol for prostate cancer treatment. Expression levels of androgen receptor and FOXA1 (forkhead box A1) were immunohistochemically analyzed before and after androgen deprivation therapy. Although the tumor volume was partially diminished during the first 3 months, acquired resistance to androgen deprivation therapy occurred. FOXA1 was not detected in parotid gland after androgen deprivation therapy, whereas androgen receptor expression was positive. FOXA1 expression might be related to acquired androgen deprivation therapy resistance in salivary duct carcinoma.
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http://dx.doi.org/10.1177/2036361318798867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149030PMC
September 2018

The extracellular loop of pendrin and prestin modulates their voltage-sensing property.

J Biol Chem 2018 06 18;293(26):9970-9980. Epub 2018 May 18.

the Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611,

Pendrin and prestin belong to the solute carrier 26 (SLC26) family of anion transporters. Prestin is unique among the SLC26 family members in that it displays voltage-driven motor activity (electromotility) and concurrent gating currents that manifest as nonlinear cell membrane electrical capacitance (nonlinear capacitance (NLC)). Although the anion transport mechanism of the SLC26 proteins has begun to be elucidated, the molecular mechanism of electromotility, which is thought to have evolved from an ancestral ion transport mechanism, still remains largely elusive. Here, we demonstrate that pendrin also exhibits large NLC and that charged residues present in one of the extracellular loops of pendrin and prestin play significant roles in setting the voltage-operating points of NLC. Our results suggest that the molecular mechanism responsible for sensing voltage is not unique to prestin among the members of the SLC26 family and that this voltage-sensing mechanism works independently of the anion transport mechanism.
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http://dx.doi.org/10.1074/jbc.RA118.001831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028957PMC
June 2018

Microbiomes of the normal middle ear and ears with chronic otitis media.

Laryngoscope 2017 10 11;127(10):E371-E377. Epub 2017 Apr 11.

National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs, Tokyo, Japan.

Objective: The aim of this study was to profile and compare the middle ear microbiomes of human subjects with and without chronic otitis media.

Study Design: Prospective multicenter cohort study.

Methods: All consecutive patients undergoing tympanoplasty surgery for chronic otitis media or ear surgery for conditions other than otitis media were recruited. Sterile swab samples were collected from the middle ear mucosa during surgery. The variable region 4 of the 16S rRNA gene in each sample were amplified using region-specific primers adapted for the Illumina MiSeq sequencer (Illumina, CA, USA)). The sequences were subjected to local blast and classified using [email protected] (World Fusion, Tokyo, Japan).

Results: In total, 155 participants were recruited from seven medical centers. Of these, 88 and 67 had chronic otitis media and normal middle ears, respectively. The most abundant bacterial phyla on the mucosal surfaces of the normal middle ears were Proteobacteria, followed by Actinobacteria, Firmicutes, and Bacteroidetes. The children and adults with normal middle ears differed significantly in terms of middle ear microbiomes. Subjects with chronic otitis media without active inflammation (dry ear) had similar middle ear microbiomes as the normal middle ears group. Subjects with chronic otitis media with active inflammation (wet ear) had a lower prevalence of Proteobacteria and a higher prevalence of Firmicutes than the normal middle ears.

Conclusion: The human middle ear is inhabited by more diverse microbial communities than was previously thought. Alteration of the middle ear microbiome may contribute to the pathogenesis of chronic otitis media with active inflammation.

Level Of Evidence: 2b. Laryngoscope, 127:E371-E377, 2017.
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http://dx.doi.org/10.1002/lary.26579DOI Listing
October 2017

Utility of clinico-biological data for long-term prognosis of head and neck terminal cancer.

Acta Otolaryngol 2017 Aug 16;137(8):895-898. Epub 2017 Mar 16.

b Department of Otorhinolaryngology, Head and Neck Surgery , Keio University, School of Medicine , Tokyo , Japan.

Objective: The prognosis of terminal head and neck cancer is traditionally determined using indices such as the palliative prognosis index. We aimed to develop an alternative prognosis index using clinico-biological data.

Methods: This retrospective case-series study included 33 head and neck cancer patients whose cancer recurred despite receiving radiation therapy between April 2010 and April 2014. Clinico-biological data were collected the day patients were diagnosed as terminal. Bivariate correlation analyses were performed on survival times and clinico-biological data. For multivariate regression analyses, patients were divided into two groups: (1) patients who survived >120 days, and (2) those who survived <120 days. Group clinico-biological data were used to determine survival-time cutoff points for the prognosis index.

Results: Bivariate analyses revealed significant correlations between survival time and BMI, hemoglobin, albumin, C-reactive protein (CRP), Onodera's Prognostic Nutritional Index (O-PNI), modified Glasgow Prognostic Score (mGPS), and Performance Status (PS). Multivariate analyses showed a strong correlation between survival time and BMI. The two groups differed significantly in BMI, albumin, CRP, O-PNI, and mGPS. In multivariate analyses BMI, CRP, and O-PNI differed significantly in the two groups.

Conclusion: BMI ≤16.4, CRP ≥1.01, and O-PNI ≤33.4 are significant predictors of long-term survival in terminal cancer patients.
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http://dx.doi.org/10.1080/00016489.2017.1299940DOI Listing
August 2017

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

Auris Nasus Larynx 2017 Aug 20;44(4):489-492. Epub 2016 Aug 20.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

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.
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http://dx.doi.org/10.1016/j.anl.2016.07.019DOI Listing
August 2017

Pretreatment Hematologic Findings as Novel Predictive Markers for Facial Palsy Prognosis.

Otolaryngol Head Neck Surg 2016 10 10;155(4):581-7. Epub 2016 May 10.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Objective: To examine the relationship between prognosis of 2 different facial palsies and pretreatment hematologic laboratory values.

Study Design: Multicenter case series with chart review.

Setting: Three tertiary care hospitals.

Subjects And Methods: We examined the clinical records of 468 facial palsy patients who were treated with an antiviral drug in combination with either oral or intravenous corticosteroids in participating hospitals between 2010 and 2014. Patients were divided into a Bell's palsy group or a Hunt's palsy group. We used the Yanagihara facial nerve grading system to grade the severity of facial palsy. "Recovery" from facial palsy was defined as achieving a Yanagihara score ≥36 points within 6 months of onset and having no accompanying facial contracture or synkinesis. We collected information about pretreatment hematologic findings, demographic data, and electrophysiologic test results of the Bell and Hunt group patients who recovered and those who did not. We then compared these data across the 2 palsy groups.

Results: In the Bell's palsy group, recovered and unrecovered patients differed significantly in age, sex, electroneuronography score, stapedial muscle reflex, neutrophil rate, lymphocyte rate, neutrophil-to-lymphocyte ratio, and initial Yanagihara score. In the Hunt's palsy group, recovered and unrecovered patients differed in age, electroneuronography score, stapedial muscle reflex, monocyte rate, platelet count, mean corpuscular volume, and initial Yanagihara score.

Conclusions: Pretreatment hematologic findings, which reflect the severity of inflammation and bone marrow dysfunction caused by a virus infection, are useful for predicting the prognosis of facial palsy.
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http://dx.doi.org/10.1177/0194599816646552DOI Listing
October 2016

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

Eur Arch Otorhinolaryngol 2016 Nov 4;273(11):3547-3552. Epub 2016 Mar 4.

Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, 4-1-1 Sannomaru, Naka-ku, Nagoya, Aichi, 460-0001, Japan.

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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http://dx.doi.org/10.1007/s00405-016-3954-0DOI Listing
November 2016

Modified endoscopic transnasal-transmaxillary-transpterygoid approach to parapharyngeal space tumor resection.

Head Neck 2016 06 8;38(6):933-8. Epub 2016 Feb 8.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Background: Conventional approaches for removing parapharyngeal space tumors require a cervical skin incision and resection of soft tissues between the skin and parapharyngeal space. The surgical visual field for this conventional approach is limited.

Methods: To decrease invasiveness during removal of benign parapharyngeal space tumors and to enhance the visual field, we devised a new approach called the modified endoscopic transnasal-transmaxillary-transpterygoid approach (MENMAP). The "surgical corridor" to the parapharyngeal space consists of the maxillary sinus, submucous tunnel under the lateral nasal wall, and the space created by removing the pterygoid process.

Results: We successfully performed en bloc removal of a parapharyngeal space tumor using the MENMAP approach. The only surgical complication was hypoesthesia of the right hard palate and maxillary gingiva, which gradually improved.

Conclusion: The MENMAP approach is a viable alternative for removing parapharyngeal space tumors, as it is safe, feasible, and less invasive. © 2016 Wiley Periodicals, Inc. Head Neck 38: 933-938, 2016.
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http://dx.doi.org/10.1002/hed.24399DOI Listing
June 2016

[Usefulness of Clinicobiological Data Obtained Prior to Cervical Lymph Node Biopsy].

Nihon Jibiinkoka Gakkai Kaiho 2015 Mar;118(3):206-12

Introduction: We commonly use data obtained prior to cervical lymph node biopsy for the diagnosis of malignant lymphoma. Based on such data, we can confirm whether a biopsy should be performed in some cases. Currently, the parameters used to indicate a presurgery examination prior to biopsy have been very few. So, we retrospectively analyzed cases of cervical lymph node biopsy. Moreover, we examined the usefulness of clinicobiological data obtained prior to cervical lymph node biopsy to evaluate various factors related to the diagnosis of malignant lymphoma.

Methods: This study included 77 patients for whom the initial diagnostic impression was malignant lymphoma before surgery. Of the 77 cases, 40 were diagnosed as having malignant lymphoma and 37 were diagnosed as having non-malignant lymphoma. We performed a case-controlled study to evaluate the differences in clinicobiological data between malignant and non-malignant lymphoma in terms of the following parameters: (1) age, (2) sex, (3) number of white blood cells, (4) white blood cell lymphocyte count, (5) percentage of white blood cell lymphocytes, (6) percentage of eosinophils (%), (7) percentage of monocytes (%), (8) atypical lymphocytes (%), (9) hemoglobin level, (10) lactate dehydrogenase level, (11) C-reactive protein level, (12) soluble interleukin-2 receptor (IL-2R) level, and (13) cytological findings. We used multivariate and univariate analyses to study the data statistically.

Results: The following 5 factors were found to be significant in a Wilcoxon t-test for malignant lymphoma: percentage of white blood cell lymphocytes, sIL-2R level, age, white blood cell lymphocyte count, and cytological findings; these factors were also significant when examined using a Pearson χ2 test. The other factors did not differ significantly between the malignant and non-malignant lymphomas. The percentage of white blood cell lymphocytes and the cytological findings were identified as significant independent factors for the diagnosis of malignant lymphoma in a multivariate analysis, whereas the other factors were not found to be significant.

Conclusion: Based on the results of the univariate and multivariate analyses performed in the present study, the decline in the percentage of white blood cell lymphocytes and the cytological findings obtained prior to cervical lymph node biopsy are significant indicators of malignant lymphoma.
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http://dx.doi.org/10.3950/jibiinkoka.118.206DOI Listing
March 2015

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

Biochem Biophys Res Commun 2015 Aug 31;463(4):582-6. Epub 2015 May 31.

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. Electronic address:

Mutation of KCNQ4 has been reported to cause autosomal dominant non-syndromic hearing loss (DFNA2A) that usually presents as progressive hearing loss starting from mild to moderate hearing loss during childhood. Here, we identified a novel KCNQ4 mutation, c.1044_1051del8, in a family with autosomal recessive non-syndromic hearing loss. The proband was homozygous for the mutation and was born to consanguineous parents; she showed severe hearing loss that was either congenital or of early childhood onset. The proband had a sister who was heterozygous for the mutation but showed normal hearing. The mutation caused a frameshift that eliminated most of the cytoplasmic C-terminus, including the A-domain, which has an important role for protein tetramerization, and the B-segment, which is a binding site for calmodulin (CaM) that regulates channel function via Ca ions. The fact that the heterozygote had normal hearing indicates that sufficient tetramerization and CaM binding sites were present to preserve a normal phenotype even when only half the proteins contained an A-domain and B-segment. On the other hand, the severe hearing loss in the homozygote suggests that complete loss of the A-domain and B-segment in the protein caused loss of function due to the failure of tetramer formation and CaM binding. This family suggests that some KCNQ4 mutations can cause autosomal recessive hearing loss with more severe phenotype in addition to autosomal dominant hearing loss with milder phenotype. This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel.
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http://dx.doi.org/10.1016/j.bbrc.2015.05.099DOI Listing
August 2015

Closure of tracheoesophageal puncture with pedicled fascia flap of the sternocleidomastoid muscle.

Auris Nasus Larynx 2015 Aug 21;42(4):318-21. Epub 2015 Feb 21.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Objective: Closure of a tracheoesophageal puncture (TEP) formed during voice prosthesis implantation may sometimes be required. We report a new method of closure that we have termed the RESET method.

Methods: We used the RESET method for four patients. An initial incision was made at the mucocutaneous junction of the tracheostoma, and the trachea and esophagus were separated. The TEP was sectioned, and the tracheal and esophageal sides were sutured into separate layers. A pedicled fascia flap lifted from the sternocleidomastoid muscle was sandwiched between the trachea and the esophagus, and subsequently secured.

Results: The TEP was closed in all patients, and no complications were observed.

Conclusion: The RESET method, using a pedicled fascia flap with stable perfusion, is a simple, reliable method of TEP closure.
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http://dx.doi.org/10.1016/j.anl.2015.02.004DOI Listing
August 2015

[Long-term effects of tinnitus retraining therapy involving monaural noise generators].

Nihon Jibiinkoka Gakkai Kaiho 2014 Feb;117(2):116-21

We have previously reported on the effects of tinnitus retraining therapy (TRT) involving monaural noise generators (NGs) up to 24 months after the start of treatment (Eur Arch Otorhinolaryngol. 2013 Feb; 270(2) : 443-8.) but very few reports exist about the long-term effects of TRT for periods of over 2 years. The aim of this study was to report the effects of TRT involving monaural NGs more than 24 months after the start of treatment. Thirty-three patients with chronic tinnitus were included in this study. All received directive counseling and monaural NGs without any other combination treatment. Effects were evaluated with the Tinnitus Handicap Inventory (THI) at their final visits to our clinic (average 31 months after the start of treatment). The average THI scores significantly improved from 55.3 +/- 19.7 at baseline to 33.5 +/- 23.3 at their final visits. Seventeen patients (52%) improved by more than 20 points from the baseline. Eleven patients who were treated with TRT for more than 3 years were individually observed in a detailed manner. Some of them experienced aggravation of their symptoms after 2 years' successful treatments. This study suggests that, although TRT seems effective more than 2 years after the start of treatment, the clinical course of each patient can vary and we need to follow them periodically depending on their situations and symptoms.
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http://dx.doi.org/10.3950/jibiinkoka.117.116DOI Listing
February 2014

Bilateral congenital conductive hearing loss due to ossification of the stapedius tendon.

Otol Neurotol 2014 Mar;35(3):e119-20

*Department of Otolaryngology, Head, and Neck Surgery, Keio University School of Medicine, Shinjuku, Tokyo; and †Department of Otolaryngology, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan.

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http://dx.doi.org/10.1097/MAO.0000000000000188DOI Listing
March 2014

Transoral closure of pharyngeal perforation caused by gastrointestinal endoscopy.

Auris Nasus Larynx 2014 Feb 1;41(1):113-7. Epub 2013 Aug 1.

Department of Otolaryngology, Head, and Neck Surgery Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan.

Objective: We present a case of pharyngeal perforation caused by gastrointestinal endoscopy that was successfully repaired with transoral mucosal sutures. This is the first report of a transoral surgical closure of a perforation caused by an endoscope. We describe the repair procedure, the necessary equipment, and the effectiveness of suturing pharyngeal perforations.

Patient: An 87-year-old woman brought to our emergency department by ambulance because of hematemesis and endoscopic hemostasis was successfully performed. But after hemostasis, CT scan showed emphysema extending from the right lower jaw to the superior mediastinum and pharyngeal perforation was observed by laryngeal fiberscope.

Intervention: Even though she had received conservative treatment, exacerbation of inflammation was observed and therefore we performed transoral surgery for closing the pharyngeal perforation.

Main Outcome Measure: We followed up with CT scans, blood test and vital signs.

Results: The pharyngeal perforation smoothly closed and exacerbation of inflammation was not observed, even after oral ingestion began.

Conclusion: Transoral closure of a pharyngeal perforation is less invasive and performing this procedure at an early stage can lead to a favorable outcome.
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http://dx.doi.org/10.1016/j.anl.2013.07.005DOI Listing
February 2014

Keratinic amyloidosis of the external auditory canal.

Auris Nasus Larynx 2014 Feb 22;41(1):97-100. Epub 2013 May 22.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Objective: We present a rare case of keratinic amyloidosis of the external auditory canal. This is only the seventh case reported of localized cutaneous amyloidosis of the external auditory canal with no systemic symptoms.

Patient: A 62-year-old man, who had complained of an itchy external auditory canal and left-side hearing loss, was referred to our hospital because of a bilateral external auditory canal mass.

Intervention: Biopsy of the external auditory canal mass suggested a diagnosis of amyloidosis. However, total systemic examination failed to identify any disease due to systemic amyloidosis. This led us to diagnose him with localized cutaneous amyloidosis of the external auditory canal.

Main Outcome Measure: We follow up periodically with systemic examination and local observation.

Results: Thirty months after the initial diagnosis, he remains in follow-up and has not shown any significant aggravation of the disease.

Conclusion: In previous cases, the chief complaints were itching sensations and pain in the external auditory canal as well as a sense of discomfort when wearing a hearing aid. This suggests that chronic stimulation and inflammation of the skin lining the external auditory canal induced amyloidosis.
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http://dx.doi.org/10.1016/j.anl.2013.04.009DOI Listing
February 2014

A psychometric validation of the Japanese versions of new questionnaires on tinnitus (THI-12, TRS, TRSw, TSS, and TSSw).

Acta Otolaryngol 2013 May 15;133(5):491-8. Epub 2013 Jan 15.

Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, Japan.

Conclusion: The Japanese version of the Tinnitus Handicap Inventory-12 (THI-12), Tinnitus Rating Scale (TRS), TRS 1-week version (TRSw), Tinnitus Severity Scale (TSS), and TSS 1-week version (TSSw), which were developed in this study, showed high reliability and validity, suggesting their usefulness in clinical practice. Based on the THI severity grades, we propose that the severity grades of THI-12 (draft) are categorized into four groups: 0-4 points, 5-9 points, 10-14 points, and 15-24 points.

Objectives: We developed Japanese versions of new questionnaires for evaluating the level of psychological distress and difficulty in activities of daily living due to tinnitus, and performed their psychometric validation to determine the reliability and validity. The THI-12 is an assessment consisting of 12 items, each of which is rated on a 3-point scale that was created by reducing the number of questions from the 25 items of the THI. The TRS, TRSw, TSS, and TSSw, which were self-evaluation questionnaires of tinnitus on an 11-grade integer Likert scale from 0 to10 points, were used as additional instruments to assess tinnitus severity and distress.

Methods: The subjects were healthy adults, and patients with subjective tinnitus who were examined at the Otolaryngology Department of Keio University Hospital, Osaka City University Hospital, or Nagoya City University Hospital with a chief complaint of tinnitus between September 2010 and January 2011. In all, 38 healthy adult subjects and 113 patients with subjective tinnitus were included. We examined the reproducibility and the internal consistency for reliability. We also examined the relationship with the available scales (THI and Hospital Anxiety and Depression Scale, HADS) and group divergence for validity.

Results: The psychometric validation showed high reliability and validity of the THI-12, TRS, TRSw, TSS, and TSSw.
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http://dx.doi.org/10.3109/00016489.2012.757799DOI Listing
May 2013

[POEMS syndrome diagnosed by detection of M-protein on immunofixation and increased level of vascular endothelial growth factor].

Rinsho Ketsueki 2011 Apr;52(4):219-22

Department of Hematology, Japan Red Cross Shizuoka Hospital.

A 48-year-old male with Castleman disease developed symptoms typical of POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal-protein and skin changes) but M-protein was not detected by immunoelec-trophoresis. He was diagnosed as having POEMS syndrome based on IgA-λ detected by immunofixation electrophoresis and an increased level (3,170 pg/ml) of vascular endothelial growth factor (VEGF). After diagnosis, the patient underwent autologous peripheral blood stem cell transplantation safely and remained relapse-free and in good condition for 15 months. This case suggests that immunofixation electrophoresis and detection of elevated serum VEGF level are useful methods for earlier diagnosis of POEMS syndrome.
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April 2011
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