Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

Most clinical reports have suggested that patients with congenital profound hearing loss have recessive mutations in deafness genes, whereas dominant alleles are associated with progressive hearing loss (PHL). Jackson shaker (Ush1g) is a mouse model of recessive deafness that exhibits congenital profound deafness caused by the homozygous mutation of Ush1g/Sans on chromosome 11. We found that C57BL/6J-Ush1g heterozygous mice exhibited early-onset PHL (ePHL) accompanied by progressive degeneration of stereocilia in the cochlear outer hair cells.

Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation.

Most degenerative diseases begin with a gradual loss of specific cell types before reaching a threshold for symptomatic onset. However, the endogenous regenerative capacities of different tissues are difficult to study, because of the limitations of models for early stages of cell loss. Therefore, we generated a transgenic mouse line (Mos-iCsp3) in which a lox-mismatched Cre/lox cassette can be activated to produce a drug-regulated dimerizable caspase-3.

A 24-month-follow-up study of argon plasma coagulation of the inferior turbinate in patients with perennial nasal allergy.

We report a 24-month-follow-up study of argon plasma coagulation of the inferior turbinate (APC) in patients with perennial nasal allergy. This was a retrospective study, in which 41 patients with perennial allergic rhinitis were treated by inferior turbinate reduction using APC. The grades of nasal stuffiness, rhinorrhea, sneezing and the daily activity impairment caused by these nasal symptoms were evaluated before and then 6, 9, 12, 15, 18, 21, and 24 months after APC, using a questionnaire graded on a four-point scale according to the Severity Criteria of Symptoms of Nasal Allergy issued by the Japanese Society of Allergology.

Phenotypic and expression analysis of a novel spontaneous myosin VI null mutant mouse.

In humans, hearing is a major factor in quality of life. Mouse models are important tools for the discovery of genes responsible for genetic hearing loss, often enabling analysis of the processes that regulate the onset of deafness in humans. Thus far, at least 400 deafness mutants have been discovered in laboratory mouse populations and used in the study of deafness.

A Case of Descending Necrotizing MediastinitisPenetrating to the Esophagus.

Here, we present the case of a 78-year-old man with a deep neck infection that caused descending necrotizing mediastinitis that extended from the pharynx to the stomach and was accompanied by two large esophageal fistulas and multiple gastric ulcers. We believe that the series of lesions were the signs of a hidden carcinoma.

Vlgr1 is required for proper stereocilia maturation of cochlear hair cells.

Very large G-protein coupled receptor (Vlgr1b) is the largest known G-protein coupled receptor. Its function is unknown, although mice with deletion of Vlgr1 (Vlgr1b together with other splicing variants, Vlgr1c, Vlgr1d and Vlgr1e) are known to exhibit audiogenic seizure susceptibility and VLGR1 is reported to be the gene responsible for Usher type 2C syndrome. We demonstrated here that Vlgr1-mutated mice suffered from a hearing defect because of inner ear dysfunction, as indicated by auditory brainstem response (ABR) and distortion product oto-acoustic emissions (DPOAE).

Short-term effect of argon plasma coagulation of the inferior turbinate in patients with perennial nasal allergy.

The aim of this study was to clarify the short-term effects of argon plasma coagulation (APC) of the inferior turbinate in patients with perennial nasal allergy. In a retrospective study, 32 patients with perennial allergic rhinitis were treated by inferior turbinate reduction using APC. Grades of nasal stuffiness, rhinorrhea, sneezing, nasal airflow resistance (NAR) and overall seriousness were evaluated before and then 1-4 and 8 weeks after APC.

[Investigation of automated infant auditory screening using the Natus-ALGO Portable device].

The aim of this study was to compare the Natus-ALGO Portable (Portable) device with the Natus-ALGO 2e and to evaluate its usefulness. Portable, an automated ABR screener (Natus Medical, Foster City, CA, USA) was used to screen 826 neonates in our hospital between February 2002 and March 2003. The referral rate for the first automated ABR screening was 0.

[Peritonsillar abscess associated with infectious mononucleosis: retrospective study of three cases].

Three cases with infectious mononuculeosis associated with peritonsillar abscess were reviewed. The initial diagnoses in these three cases were tonsillitis or peritonsillitis. However, infectious mononucleosis was suspected because of an elevation in aminotransferases and was later confirmed by elevations in the titers of antibodies for Epstein-Barr virus.

Comparison of acute low-tone sensorineural hearing loss versus Meniere's disease by electrocochleography.

To clarify the pathogenesis of acute low-tone sensorineural hearing loss (ALHL), we retrospectively compared the electrocochleographic findings from 20 patients with ALHL with those from 58 patients with Meniere's disease (MD) classified into 4 groups (MD1 through MD4) according to their pure tone average. The mean summating potential-action potential ratio in the ALHL group was 0.35 +/- 0.

Six1 controls patterning of the mouse otic vesicle.

Six1 is a member of the Six family homeobox genes, which function as components of the Pax-Six-Eya-Dach gene network to control organ development. Six1 is expressed in otic vesicles, nasal epithelia, branchial arches/pouches, nephrogenic cords, somites and a limited set of ganglia. In this study, we established Six1-deficient mice and found that development of the inner ear, nose, thymus, kidney and skeletal muscle was severely affected.

[Bone-anchored hearing aid (BAHA): report of 2 cases].

In this first case report in Japan, we described 2 patients treated using a bone conductive hearing aid with skin-penetrating implant, or bone-anchored hearing aid (BAHA). Both suffered from chronic otitis media and had received bilateral canal down tympanomastoidectomy. Case 1 was a 61-year-old woman with a conventional air conductive hearing aid in her right ear.

Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.

The Jackson shaker (js) mouse carries a recessive mutation causing phenotypes such as deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia. Two alleles have been identified so far, the original js and js(seal). A contig of three BAC clones was isolated by positional cloning.

Sequential computed tomography images demonstrating characteristic changes in fibrous dysplasia.

Images of fibrous dysplasia (FD) on computed tomography (CT) or magnetic resonance imaging (MRI) vary depending on the relative proportions of the fibrous and osseous components. Based on analysis of the literature, Camilleri suggested that structural changes revealed by conventional radiography may be indicative of the progression of FD. Here we describe the case of a boy who presented at 12 years of age with monostotic FD located in the right maxilla.

Postoperative vestibular-evoked myogenic potentials in cases with vestibular schwannomas.

Although still the subject of discussion, vestibular-evoked myogenic potentials (VEMPs) have been considered to reflect the function of the saccular and, more recently, the cochlear tracts. To accurately determine the precise afferent pathway carrying VEMPs, we studied the outcomes of VEMPs and other examinations in patients with unilateral vestibular schwannomas. Eleven patients with unilateral vestibular schwannomas resected using a middle cranial fossa approach were included in the study.

Solitary infantile myofibromatosis in the lateral orbit floor showing spontaneous regression.

Infantile myofibromatosis is a rare benign tumour usually occurring early in infancy. We describe the case of a 10-year-old boy with solitary infantile myofibromatosis in the left lateral orbit floor which regressed spontaneously. Although our patient was older than previously reported cases and showed bony destruction confirmed by computed tomography (CT), this tumour was diagnosed as infantile myofibromatosis based on immunohistochemical findings.

Meningioma of the internal auditory canal with extension into the vestibule.

Meningiomas account for approximately 18 to 19 per cent of all brain tumours. Although they can arise in numerous locations, meningiomas of the internal auditory canal (IAC) are rare. Most tumours that originate in the IAC are schwannomas of the VIIIth cranial nerve (acoustic neuromas).

Three-dimensional imaging of ENT diseases with helical computed tomography.

We have employed helical computed tomography (CT) to evaluate ear, nose and throat diseases, and present herein seven typical cases: middle ear surgery, osteoma of the external ear canal, maxillary fracture, tripod fracture, submandibular gland calculus, epiglottic abscess and vocal fold palsy. Helical (CT) facilitates the assessment of these diseases and its high diagnostic value is described.