Koichiro Wasano

Keratinic amyloidosis of the external auditory canal.

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.

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

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

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

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.

Transoral closure of pharyngeal perforation caused by gastrointestinal endoscopy

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.

Pretreatment Hematologic Findings as Novel Predictive Markers for Facial Palsy Prognosis

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.

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

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.

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

Abstract 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.

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

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.

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

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.

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

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 patients 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.