A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.

Auditory neuropathy is a hearing disorder characterized by normal outer hair cell function and abnormal neural conduction of the auditory pathway. Aetiology and clinical presentation of congenital or early-onset auditory neuropathy are heterogeneous, and their correlations are not well understood. Genetic backgrounds and associated phenotypes of congenital or early-onset auditory neuropathy were investigated by systematically screening a cohort of 23 patients from unrelated Japanese families.

Functional interaction between mesenchymal stem cells and spiral ligament fibrocytes.

Spiral ligament fibrocytes (SLFs) play an important role in normal hearing as well as in several types of sensorineural hearing loss attributable to inner ear homeostasis disorders. Our previous study showed that transplantation of mesenchymal stem cells (MSCs) into the inner ear of rats with damaged SLFs significantly accelerates hearing recovery compared with rats without MSC transplantation. To elucidate this mechanism of SLF repair and to determine the contribution of transplanted MSCs in this model, we investigated the mutual effects on differentiation and proliferation between MSCs and SLFs in a coculture system.

Color picture drawings without form and eye movements: a case report of visual form agnosia in a girl.

The case of an 8-year-old girl who manifested cortical blindness and whose color drawings of faces and objects were without outlines is reported. Her birth was uneventful. When she was 10 months old, she fell down to the floor from a chair, resulting in a subarachnoidal hemorrhage.

In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.

Background: Mutation of the voltage-gated potassium channel KCNQ4 causes DFNA2-type nonsyndromic autosomal dominant sensorineural hearing loss. KCNQ4 is expressed predominantly in the auditory sensory outer hair cells, which are critical for sound amplification.

Results: We sequenced KCNQ4 from Japanese patients with sensorineural hearing loss, and identified a novel missense mutation encoding a Tyr270His located at the N-terminus of the highly conserved pore helix sequence.

A novel animal model of hearing loss caused by acute endoplasmic reticulum stress in the cochlea.

Many stimuli such as ischemia, hypoxia, heat shock, amino acid starvation, and gene mutation, exhibit a cellular response called endoplasmic reticulum (ER) stress. ER stress induces expression of a series of genes, leading to cell survival or apoptosis. Previously, we found that in an animal model of hearing loss caused by acute mitochondrial dysfunction, several ER stress markers including C/EBP homologous protein were induced in the cochlear lateral wall.

Reevaluation of serum p53 antibody as a tumor marker in colorectal cancer patients.

Purpose: We reevaluated the serum p53 antibody (S-p53Ab) ELISA kit, which was approved as a tumor marker of colon cancer in the Japanese Health Insurance System in 2007.

Methods: S-p53Ab was measured as a tumor marker in 154 colorectal cancer patients, and the results were categorized by clinical and pathological variables. We then compared the positive frequency of S-p53Ab, carcinoembryonic antigen (CEA), and carbohydrate 19-9 (CA19-9).

Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.

Background: Variants of mitochondrial DNA (mtDNA) have been evaluated for their association with hearing loss. Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA in Japanese patients with hearing loss has not been reported.

Methods: Using denaturing high-performance liquid chromatography combined with direct sequencing and cloning-sequencing, Japanese patients with prelingual (N = 54) or postlingual (N = 80) sensorineural hearing loss not having pathogenic mutations of m.

Hormonal regulation of Na+/K+-dependent ATPase activity and pump function in corneal endothelial cells.

Na- and K-dependent ATPase (Na,K-ATPase) in the basolateral membrane of corneal endothelial cells plays an important role in the pump function of the corneal endothelium. We investigated the role of dexamethasone in the regulation of Na,K-ATPase activity and pump function in these cells. Mouse corneal endothelial cells were exposed to dexamethasone or insulin.

Late-phase recovery in the cochlear lateral wall following severe degeneration by acute energy failure.

We previously reported a model of acute cochlear energy failure using a mitochondrial toxin, 3-nitropropionic acid (3-NP), to study mechanisms of inner ear disorders such as inner ear ischemia. In this model, the main cause of hearing loss is apoptosis of fibrocytes in the cochlear lateral wall. Here, we analyzed the time course of structural and hearing level changes in the cochlea from the acute phase to the chronic phase up to 2 months after surgery.

Arachnoid cysts confined to the internal auditory canal or facial nerve canal.

Objective: To illustrate the morphological characteristics and pathological significance of arachnoid cysts confined to the internal auditory canal or facial nerve canal.

Design: Retrospective case series.

Subjects: Three patients' cases were reviewed, and temporal bone sections examined histologically.

Quality of life and cost-utility assessment after strabismus surgery in adults.

Purpose: To understand the functional and psychosocial aspects of strabismus surgery, an evaluation based on the patient's perspective is essential. In this study, we assessed quality of life and utility in adult patients who had undergone strabismus surgery, and we modeled the cost of providing this intervention in order to calculate the cost-utility of strabismus surgery in adults.

Methods: The study population comprised 226 patients with strabismus aged 18 years or older who were scheduled for ocular alignment surgery at 12 facilities of the Strabismus Surgery Study Group in Japan.

Influence of aging over 10 years on auditory and vestibular functions in three patients with auditory neuropathy.

The influence of aging on hearing and vestibular function in patients with auditory neuropathy has not been investigated. The purpose of this study was to investigate how hearing and vestibular function in this disease change with aging. The subjects were three female patients with auditory neuropathy.

Temporal bone histopathological features of a worker who received high doses of radiation in a criticality accident: a case report.

In 1999, three workers received high doses of radiation in a small Japanese plant while they were preparing fuel for an experimental reactor. This criticality accident at melting point was caused by the addition of too much uranium enriched to a relatively high level, causing a 'criticality' (a limited uncontrolled nuclear chain reaction), which continued intermittently for 20 h. The three workers concerned were hospitalized, two in a critical condition.

Prolapse of Intussusception through the Anus as a Result of Sigmoid Colon Cancer.

Adult intussusception is rare and most often associated with cancer. We report a case of intussuscepted sigmoid colon into the rectum protruding from the anus of a 47-year-old woman. The cause of the intussusception was sigmoid colon cancer.

Repetitive transcranial magnetic stimulation (rTMS) for treatment of chronic tinnitus.

Objective: There is compelling evidence that tinnitus is associated with functional alterations in the central nervous system. Repetitive transcranial magnetic stimulation (rTMS) is a potent tool for modifying neural activity at the stimulated area and at a distance along the functional anatomical connections. Depending on the stimulation parameters, cortical networks can be functionally disturbed or modulated in their activities.

Evaluation of ocular surface glycocalyx using lectin-conjugated fluorescein.

Purpose: A glycocalyx plays important roles in the ocular surface epithelium, but there is no direct simple method to evaluate ocular surface glycocalyx. We tested a wheat germ agglutinin conjugate of fluorescein (F-WGA) as a marker to demonstrate ocular surface glycocalyx in vivo.

Methods: After a 5% F-WGA solution was applied to the eyes of eight healthy volunteers, fluorescent intensities of the central cornea and bulbar conjunctiva were measured by fluorophotometry.

Association between clinical diagnostic tests and health-related quality of life surveys in patients with dry eye syndrome.

Purpose: This study was performed to assess the impact of dry eye on patients' quality of life (QOL) and to analyze the association between subjective symptoms and ocular surface findings of dry eye.

Methods: The study population consisted of 158 patients with dry eye aged 20 years or older who visited any of the 15 medical care facilities enrolled in the study. The backgrounds and ocular findings of the patients were investigated, and their QOL was evaluated with the Japanese version of the 25-item National Eye Institute Visual Functioning Questionnaire (VFQ-25) and of the Medical Outcomes Study (MOS) 8-item Short-Form Health Survey (SF-8) to examine the association between subjective symptoms and ocular surface findings.

Identification of stem-like cells in head and neck cancer cell lines.

This study investigated the existence of stem-like cells in established head and neck squamous cell carcinoma (HNSCC) lines, HSC3 and HSC4. Flow cytometric analysis confirmed the presence of side population (SP) cells excluding Hoechst 33342 in HSC4 cells (0.37+/-0.

Role of insulin in regulation of Na+-/K+-dependent ATPase activity and pump function in corneal endothelial cells.

Purpose: The Na(+)-/K(+)-dependent ATPase (Na,K-ATPase) expressed in the basolateral membrane of corneal endothelial cells plays an important role in the pump function of the corneal endothelium. The role of insulin in the regulation of Na,K-ATPase activity and pump function in corneal endothelial cells was investigated.

Methods: Confluent monolayers of mouse corneal endothelial cells were exposed to insulin.

Vestibular myogenic potentials of athletes for the Deaf Olympic Games with congenital profound hearing loss.

Conclusions: Our study revealed that VEMPs in responses to clicks and 500 Hz STB were abnormal in 25% of athletes with congenital profound sensorineural hearing loss for the Deaf Olympic Games. These results confirm that a part of deaf athletes with congenital vestibular failure is well compensated for higher level sport activities.

Objectives: The aim of this study was to investigate the appearance rate of VEMP, vestibular failure and its compensation in Japanese deaf athletes by the VEMP test, caloric test and balance test.

Prevalence of visual impairment in the adult Japanese population by cause and severity and future projections.

Purpose: To present a comprehensive estimate of the total number of people with visual impairment in the adult Japanese population by age, gender, severity and cause, and to estimate future prevalence based on population projections and expected demographic changes.

Methods: Definitions of visual impairment used in this study were based on the United States criteria. Total visual impairment was calculated as the sum of low vision and blindness.

Value of genetic testing in the otological approach for sensorineural hearing loss.

Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect for SNHL, especially in children. In recent 10 years, our knowledge in genetic causes of SNHL has made a significant advance, and now it is used for diagnosis and other clinical practices. Hereditary hearing loss can be classified into syndromic and nonsyndromic hearing loss.

Enhanced expression of C/EBP homologous protein (CHOP) precedes degeneration of fibrocytes in the lateral wall after acute cochlear mitochondrial dysfunction induced by 3-nitropropionic acid.

We previously reported that treatment of the rat cochlea with a mitochondrial toxin, 3-nitropropionic acid (3-NP), causes temporary to permanent hearing loss depending on the amount of the drug. Furthermore, apoptosis of cochlear lateral wall fibrocytes, which are important for maintaining the endolymph, is a predominant pathological feature in this animal model. 3-NP is known to induce oxidative stress as well as neuronal apoptosis.

Phase I/II study of s-1 plus cisplatin combination chemotherapy in patients with advanced/recurrent head and neck cancer.

Objective: The objectives of this study were to determine the maximum tolerated dose (MTD) and recommended dose (RD) of S-1 plus cisplatin (CDDP) and to evaluate safety and efficacy using the defined RD in advanced/recurrent head and neck cancer (HNC).

Methods: S-1 was administered orally at 40 mg/m(2) twice daily for 14 consecutive days, and CDDP was infused on day 8 at a dose of 60 and 70 mg/m(2). Each course was repeated every 4 weeks.

Balance dysfunction resulting from acute inner ear energy failure is caused primarily by vestibular hair cell damage.

Inner ear energy failure is associated with disorders such as inner ear ischemia. Recently, we used the mitochondrial toxin 3-nitropropionic acid (3-NP) to establish an animal model of inner ear energy failure that presents with auditory dysfunction. Here we investigated the mechanisms underlying balance disorders in the 3-NP animal model.