Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP.

Hearing depends on intricate morphologies and mechanical properties of diverse inner ear cell types. The individual contributions of various inner ear cell types into mechanical properties of the organ of Corti and the mechanisms of their integration are yet largely unknown. Using sub-100-nm spatial resolution atomic force microscopy (AFM), we mapped the Young's modulus (stiffness) of the apical surface of the different cells of the freshly dissected P5-P6 cochlear epithelium from wild-type and mice lacking either Trio and F-actin binding protein (TRIOBP) isoforms 4 and 5 or isoform 5 only.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-lingual ancestry in or near Ibadan, Nigeria, that had at least one individual with nonsyndromic, severe-to-profound, prelingual-onset, bilateral hearing loss not attributed to nongenetic factors. We performed a combination of exome and Sanger sequencing analyses to evaluate both nuclear and mitochondrial genomes.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation.

Variants of human CLDN9 cause mild to profound hearing loss.

Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset.

Mouse Models of Human Pathogenic Variants of Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Human pathogenic variants of are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability and seizures. Thirty-five pathogenic variants of human associated with deafness have been reported. However, functions of TBC1D24 in the inner ear and the pathophysiology of TBC1D24-related deafness are unknown.

Noncoding Microdeletion in Mouse Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Hepatocyte growth factor (HGF) is a multifunctional protein that signals through the MET receptor. HGF stimulates cell proliferation, cell dispersion, neuronal survival, and wound healing. In the inner ear, levels of HGF must be fine-tuned for normal hearing.

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.

TRIOBP remodels the cytoskeleton by forming unusually dense F-actin bundles and is implicated in human cancer, schizophrenia, and deafness. Mutations ablating human and mouse TRIOBP-4 and TRIOBP-5 isoforms are associated with profound deafness, as inner ear mechanosensory hair cells degenerate after stereocilia rootlets fail to develop. However, the mechanisms regulating formation of stereocilia rootlets by each TRIOBP isoform remain unknown.

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel-complex. Both KCNE1 and KCNQ1 are necessary for normal hearing and cardiac ventricular repolarization. Recessive variants in these genes are associated with Jervell and Lange-Nielson syndrome (JLNS1 and JLNS2), a cardio-auditory syndrome characterized by congenital profound sensorineural deafness and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death.

Audio-visual speech perception in prelingually deafened Japanese children following sequential bilateral cochlear implantation.

Objectives: An effect of audio-visual (AV) integration is observed when the auditory and visual stimuli are incongruent (the McGurk effect). In general, AV integration is helpful especially in subjects wearing hearing aids or cochlear implants (CIs). However, the influence of AV integration on spoken word recognition in individuals with bilateral CIs (Bi-CIs) has not been fully investigated so far.

Regenerative treatment for tympanic membrane perforation using gelatin sponge with basic fibroblast growth factor.

Objective: The objective of this study was to evaluate safety and efficacy of regenerative treatment using gelatin sponge with basic fibroblast growth factor (bFGF) in patients with tympanic membrane perforation (TMP).

Methods: The current study was a prospective, multicenter, open-label, single-arm, and exploratory clinical trial to evaluate the safety and efficacy of the TM regeneration procedure (TMRP). Myringotomy was used to mechanically disrupt the edge of the TMP, and a gelatin sponge immersed in bFGF was then placed over the perforation.

Audio-visual integration during speech perception in prelingually deafened Japanese children revealed by the McGurk effect.

Objective: To investigate the McGurk effect in profoundly deafened Japanese children with cochlear implants (CI) and in normal-hearing children. This was done to identify how children with profound deafness using CI established audiovisual integration during the speech acquisition period.

Methods: Twenty-four prelingually deafened children with CI and 12 age-matched normal-hearing children participated in this study.

[A case of intraorbital solitary fibrous tumor resected successfully with preoperative arterial embolization].

The solitary fibrous tumor (SFT) is a rare spindle cell neoplasm derived from mesenchymal cells. It sometimes recurs clinically, and is categorized as an 'intermediate malignancy' tumor under the WHO (World Health Organization) classification of soft tissue tumors. Several studies have reported on intraorbital SFTs, but none of them has pointed out the utility of preoperative arterial embolization in the case of an intraorbital SFT.

Detection of subclinical recurrence or second primary cancer using (18) F-FDG PET/CT in patients treated curatively for head and neck squamous cell carcinoma.

Background: The efficacy of posttreatment surveillance (18) F-fluorodeoxyglucose positron emission tomography ((18) F-FDG PET)/CT was evaluated in patients with head and neck squamous cell carcinoma (HNSCC).

Methods: The subjects were 158 patients with HNSCC who underwent PET/CT after definitive treatment. PET/CT detection of subclinical recurrence or a second primary cancer and the effect of timing of PET/CT scans on survival were analyzed.

A case of angiosarcoma arising from internal jugular vein.

Primary angiosarcoma is a rare disease with a poor prognosis. It most commonly arises in the head and neck region; localization in the deep soft tissue of the neck is extremely rare. We herein present a case of angiosarcoma derived from the right internal jugular vein.

Risk factors for retropharyngeal cellulitis in Kawasaki disease.

Objective: Kawasaki disease (KD) is an acute multisystemic vasculitis of unknown etiology that occurs in infants and children. Retropharyngeal cellulitis has been reported as a rare manifestation of KD. This study investigated the frequency and characteristics of patients with KD manifesting as retropharyngeal soft-tissue swelling.

Prognostic value of pretreatment 18F-fluorodeoxyglucose positron emission tomography/CT volume-based parameters in patients with oropharyngeal squamous cell carcinoma with known p16 and p53 status.

Background: The purpose of this study was to determine whether pretreatment 18F-fluorodeoxyglucose-positron emission tomography (18F-FDG PET/CT) volume-based parameters, such as metabolic tumor volume and total lesion glycolysis, add more prognostic information in patients with oropharyngeal squamous cell carcinoma (SCC).

Methods: The subjects were 47 patients with oropharyngeal SCC who underwent 18F-FDG PET/CT before any treatment and followed by definitive therapy. PET parameters (metabolic tumor volume and total lesion glycolysis) and tumor p16/p53 status were evaluated retrospectively.

Prognostic impact of p16 and p53 expression in oropharyngeal squamous cell carcinomas.

Backgrounds: A p16 protein is known to be overexpressed in human papillomavirus-positive head and neck squamous cell carcinoma specimens. p53 is a tumor suppressor protein detectable by immunohistochemistry in carcinogen-associated head and neck squamous cell carcinoma as a result of gene mutations. The purpose of this study is to investigate the prognostic impact of p16 and p53 expression in oropharyngeal squamous cell carcinomas.

Intra-arterial administration of antibiotics for refractory skull base osteomyelitis.

We report two cases of elderly diabetic men with skull base osteomyelitis (SBO) originating from malignant external otitis (MEO). In both, a devastating infection and neural paralysis deteriorated after conventional therapy, including long-term intravenous administration of culture-directed antibiotics with strict control of blood sugar levels and surgical debridement of infectious granulation tissue. Since poor perfusion of antibiotics in the lesion may be associated with serious nature of MEO/SBO, we administered antibiotics intra-arterially via a retrograde catheter with the tip set at the proximal point of the external carotid artery to increase the tissue drug concentration in the maxillary artery (MA) and ascending pharyngeal artery (APA) supply areas, in which intense inflammation was observed.

Predictive value of middle ear aeration before second-stage operation in staged tympanoplasty with soft-wall reconstruction.

Conclusion: The extent of middle ear aeration before second-stage canal wall-down (CWD) tympanoplasty was correlated with postoperative middle ear stability.

Objective: To evaluate middle ear aeration before second-stage CWD tympanoplasty as a predictor of postoperative re-aeration potential and external auditory canal (EAC) stability in staged CWD tympanoplasty with soft-wall reconstruction (SWR).

Methods: Middle ear aeration was evaluated before and at 1 year after the second-stage operation in patients who underwent staged CWD tympanoplasty with SWR for middle ear cholesteatoma.

Clinical features of rapidly progressive bilateral sensorineural hearing loss.

Conclusion: Rapidly progressive bilateral sensorineural hearing loss (SNHL) often develops as a symptom of intracranial diseases or systemic vasculitis. For early diagnosis and treatment of these potentially fatal diseases, a history of hearing deterioration within 2 months and associated symptoms may be important.

Objectives: To reveal clinical features and causative diseases for rapidly progressive bilateral SNHL.