Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.

DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood.

Generalized SAMPLE SIZE Determination Formulas for Investigating Contextual Effects by a Three-Level Random Intercept Model.

Behavioral and psychological researchers have shown strong interests in investigating contextual effects (i.e., the influences of combinations of individual- and group-level predictors on individual-level outcomes).

Trends in psychological distress and alcoholism after The Great East Japan Earthquake of 2011.

Aims: Many studies have shown that natural disasters affect mental health; however, longitudinal data on post-disaster mental health problems are scarce. The aims of our study were to investigate the trend in psychological distress and alcoholism after The Great East Japan Earthquake and tsunami in north eastern Japan, in March 2011.

Methods: A longitudinal study was conducted using annual health check data for the general population, in the city of Higashi-Matsushima, which was affected by the high impact of tsunami.

Reliability and validity of the Japanese version of the Emotion Regulation Skills Questionnaire.

Background: The Emotion Regulation Skills Questionnaire (ERSQ) comprehensively assesses nine aspects of emotion regulation skills: awareness, clarity, sensation, understanding, compassionate self-support, modification, acceptance, tolerance, and readiness to confront. However, it is unknown about the levels of emotion regulation skills in various mental disorders, and its cross-cultural validity. We developed a Japanese version of the ERSQ, then examined its validity and reliability in clinical and non-clinical populations.

Histological investigation of common insensate flaps obtained from the hand and forearm regions for use in fingertip reconstruction.

Objective: Many skin flaps have been described for fingertip reconstruction; however, they have not been compared histologically. The aim of this study is to compare the histological features of common insensate flaps that are used for fingertip reconstruction.

Method: Skin from fingertips and common flap donor sites on the hand and forearm of cadavers were harvested.

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes.

Enuresis and Hyperactivity-Inattention in Early Adolescence: Findings from a Population-Based Survey in Tokyo (Tokyo Early Adolescence Survey).

Background: Enuresis (9% at age 9.5) negatively affects children's psychosocial status. Clinically-diagnosed enuresis (2% at the age) is associated with hyperactivity-inattention, and common neural bases have been postulated to underlie this association.

Esthetic Craniofacial Bony and Skull Base Reconstruction Using Flap Wrapping Technique.

For a safe and esthetic skull base reconstruction combined with repair of craniofacial bone defects, the authors introduce the flap wrapping technique in this study. This technique consists of skull base reconstruction using the vastus lateralis muscle of an anterolateral thigh (ALT) free flap, and structural craniofacial bony reconstruction using an autologous calvarial bone graft. The key to this technique is that all of the grafted autologous bone is wrapped with the vascularized fascia of the ALT free flap to protect the grafted bone from infection and exposure.

Vascularized Nerve Bypass Graft: A Case Report of an Additional Treatment for Poor Sensory Recovery.

End-to-side neurorrhaphy has proven effective in basic research and in clinical application. One of the methods of end-to-side neurorrhaphy, nerve bypass technique, has been reported and axon regeneration has been proven. In clinical application, the utility of the nerve bypass technique has been revealed in some cases; however, these bypasses were performed using nonvascularized nerves.

Dissociation mediates the relationship between peer victimization and hallucinatory experiences among early adolescents.

Peer victimization increases the risk of experiencing psychotic symptoms among clinical and general populations, but the mechanism underlying this association remains unclear. Dissociation, which is related to peer victimization and hallucinatory experiences, has been demonstrated as a significant mediator in the relation between childhood victimization and hallucinatory experience among adult patients with psychosis. However, no studies have examined the mediating effect of dissociation in a general early adolescent population.

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

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.

The Recognition of Mental Illness, Schizophrenia Identification, and Help-Seeking from Friends in Late Adolescence.

Objective: The recognition of mental illness without anticipating stigma might encourage adolescents' help-seeking behavior. We aimed to identify the relationship between mental illness identification and adolescents' intention to seek help if faced with mental illness.

Method: We examined the relationships between help-seeking intentions and recognition of mental illness (RMI) without correctly identifying the disease name, as well as correct labelling of schizophrenia (LSC) using a vignette about a person with schizophrenia in a cross-sectional survey of 9,484 Japanese high-school students aged 15-18 years.

[Evaluation of the Effectiveness and Safety in a Multi-center Clinical Trial of VIBRANT SOUNDBRIDGE in Japan].

Middle ear implants (MEIs) such as the Vibrant Soundbridge (VSB) are attractive and alternative treatments for patients with conductive, sensorineural, and mixed hearing loss who do not benefit from, or who choose not to wear, conventional hearing aids (HAs). Recent studies suggest that MEIs can provide better improvements in functional gain, speech perception, and quality of life than HAs, although there are certain risks associated with the surgery which should be taken into consideration, including facial nerve or chorda tympanic nerve damage, dysfunctions of the middle and inner ears, and future device failure/explantation. In Japan, a multi-center clinical trial of VSB was conducted between 2011-2014.

SOD1 gene polymorphisms in sudden sensorineural hearing loss.

Conclusion: The results suggest that SOD1 rs4998557 could be associated with susceptibility to SSNHL in the Japanese population.

Objectives: To assess the gene association with sudden sensorineural hearing loss (SSNHL).

Methods: A two-stage case control study was conducted to explore the relationship of the candidate genes to SSNHL.

The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports.

Conclusion: Cochlear implantation (CI) for Japanese single-sided deafness patients resulted in improved speech perception, increased sound localization accuracy, and reduced tinnitus handicap.

Objectives: This study reports results for five adult SSD cases with CI, focusing on the benefits they obtained in terms of speech recognition, sound localization, and tinnitus handicap.

Methods: Five Japanese patients meeting the eligibility criteria were included in this study.

Annual longitudinal survey at up to five time points reveals reciprocal effects of bedtime delay and depression/anxiety in adolescents.

Objective: To investigate the longitudinal relationship between sleep habits and mental health in adolescents.

Methods: Multipoint observation data of up to five years were employed from a prospective cohort study of sleep habits and mental health status conducted from 2009 to 2013 in a unified junior and senior high school (grades 7-12) in Tokyo, Japan. A total of 1078 students answered a self-report questionnaire, including items on usual bed and wake-up times on school days, and the Japanese version of the 12-item General Health Questionnaire (GHQ-12).

[Multicenter Clinical Study of Vibrant Soundbridge in Japan: Analysis of Subjective Questionnaires].

The Vibrant Soundbridge (VSB) is an active middle ear implant with the Floating Mass Transducer (FMT). We performed a multicenter study to study the efficacy of the VSB by means of "the 10 Questionnaire on Hearing 2002" and "the APHAB questionnaire" at 13 hospitals between 2011 and 2013. In all, 23 patients with mixed or conductive hearing loss received VSB implantation by the round window placement technique.

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA sequencing (MPS) technology enables clinicians to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis.

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection.

Background: It is well known that congenital cytomegalovirus infection exhibits white matter and other types of lesions in magnetic resonance imaging (MRI), but little is known on the clinical significance of white matter lesions because they are also present in asymptomatic congenital cytomegalovirus infection. We investigated for relationships among white matter lesions, intelligence quotient, and other neurodevelopmental features.

Methods: Nine children (five boys and four girls; mean age: 87.

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

The diagnosis of the genetic etiology of deafness contributes to the clinical management of patients. We performed the following four genetic tests in three stages for 52 consecutive deafness subjects in one facility. We used the Invader assay for 46 mutations in 13 genes and Sanger sequencing for the GJB2 gene or SLC26A4 gene in the first-stage test, the TaqMan genotyping assay in the second-stage test and targeted exon sequencing using massively parallel DNA sequencing in the third-stage test.

A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.

Objective: Cochlear implantation is the most important treatment currently available for profound sensorineural hearing loss. The aim of this study was to investigate the etiology of hearing loss in patients with cochlear implantation, and to compare outcomes.

Methods: Japanese hearing loss patients who received cochlear implants (CIs) or electric acoustic stimulation (EAS) in Shinshu University hospital (n = 173, prelingual onset: 92, postlingual onset: 81) participated in this study.

Prognostic impact of salvage treatment on hearing recovery in patients with sudden sensorineural hearing loss refractory to systemic corticosteroids: A retrospective observational study.

Objective: To determine the prognostic factors for hearing recovery in patients with sudden sensorineural hearing loss (SSHL) refractory to systemic corticosteroids following salvage treatment.

Methods: This is a retrospective observational study at nine tertiary referral hospitals. A total of 120 patients with sudden deafness refractory to systemic corticosteroids were enrolled.

On the Mathematical Relationship Between Latent Change Score and Autoregressive Cross-Lagged Factor Approaches: Cautions for Inferring Causal Relationship Between Variables.

The present paper focuses on the relationship between latent change score (LCS) and autoregressive cross-lagged (ARCL) factor models in longitudinal designs. These models originated from different theoretical traditions for different analytic purposes, yet they share similar mathematical forms. In this paper, we elucidate the mathematical relationship between these models and show that the LCS model is reduced to the ARCL model when fixed effects are assumed in the slope factor scores.