Pharmacological inhibition of cochlear mitochondrial respiratory chain induces secondary inflammation in the lateral wall: a potential therapeutic target for sensorineural hearing loss.

Cochlear lateral wall has recently been reported as a common site of inflammation, yet precise molecular mechanisms of the inflammatory responses remain elucidated. The present study examined the inflammatory responses in the lateral wall following acute mitochondrial dysfunction induced by a mitochondrial toxin, 3-nitropropionic acid (3-NP). Reverse-transcription (RT)-PCR revealed increases in the expression of the proinflammatory cytokines interleukin (IL)-1β and IL-6.

Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.

Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease.

Appearance of ocular vestibular evoked myogenic potential elicited by bone-conducted vibration in a patient with CHARGE syndrome with aplasia of all semicircular canals.

We report VEMP results in a patient with aplasia of bilateral semicircular canals and a small vestibular cavity. The patient was a 27-year-old male. The computed tomograph showed absolutely no formation of his semicircular canals, together with hypoplasia of his vestibular cavity and cochlea in both ears.

[Current status and perspectives of the research in Pendred syndrome].

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter, and a partial defect in iodide organification, and is the most common syndromic hearing loss. Hearing loss is congenital in most cases and is accompanied by an enlarged vestibular aqueduct and a Mondini cochlea. Pendred syndrome and autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct comprise a phenotypic spectrum caused by mutations in SLC26A4.

ABCA4 gene screening by next-generation sequencing in a British cohort.

Purpose: We applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations.

Methods: We identified 79 patients with a clinical diagnosis of ABCA4-associated disease who had a single variant identified by the ABCA4 microarray. Comprehensive phenotypic data were obtained, and the NGS strategy was applied to identify the second allele by means of sequencing the entire coding region and adjacent intronic sequences of the ABCA4 gene.

The effect of a first-generation H1-antihistamine on postural control: a preliminary study in healthy volunteers.

First-generation H1-antihistamines are known to cause fatigue and drowsiness, due to their poor receptor selectivity and their high penetration rate of the blood-brain barrier. However, little is known about the effects of first-generation H1-antihistamines on postural stability. The purpose of this study was to evaluate the effects of d-chlorpheniramine on postural stability using posturography with and without foam rubber.

Large cell neuroendocrine carcinoma of the submandibular gland: case report and literature review.

Large cell neuroendocrine carcinoma (LCNEC) of the salivary gland is extremely rare. We report on a case of LCNEC in the submandibular gland. A 58-year-old male had a four-month history of an enlarging mass in his left submandibular region.

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

Purpose: To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype.

Design: Retrospective case series.

Methods: The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease.

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.

Purpose: To describe the molecular characteristics of four Japanese patients with cone dystrophy with supernormal rod responses (CDSRR).

Methods: Four individuals with a clinical and electrophysiological diagnosis of CDSRR were ascertained. The pathognomonic findings of the full-field electroretinograms (ERGs) included a decrease in the rod responses, a square-shaped a-wave, an excessive increase in the b-wave in the bright flash responses, and decreased cone-derived responses.

Long-lasting changes in the cochlear K+ recycling structures after acute energy failure.

Fibrocytes in the cochlear lateral wall and spiral limbus play an important role in transporting K(+) and have the capacity of self-renewal. We showed that acute energy failure in the rat cochlea induced by local administration of the mitochondrial toxin 3-nitropropionic acid (3NP) caused hearing loss in a concentration-dependent manner, mainly due to degeneration of cochlear fibrocytes. We produced long-lasting profound cochlear damage in this model by modifying the 3NP administration protocol and observed morphological changes at 16 weeks after the administration.

The clinical effect of homozygous ABCA4 alleles in 18 patients.

Purpose: To describe the phenotypic presentation of a cohort of individuals with homozygous disease-associated ABCA4 variants.

Design: Retrospective case series.

Participants: Eighteen affected individuals from 13 families ascertained from a total cohort of 214 families with ABCA4-related retinal disease presenting to a single center.

Outer retinal morphology and visual function in patients with idiopathic epiretinal membrane.

Objective: To determine the relationship between the morphology of the fovea and visual acuity in patients with an untreated idiopathic epiretinal membrane (ERM).

Methods: We examined 52 eyes of 45 patients diagnosed with an ERM. The morphology of the foveal area was determined by spectral-domain optical coherence tomography.

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.

Conclusion: PAX3 genetic analysis increased the diagnostic accuracy for Waardenburg syndrome type I (WS1). Analysis of the three-dimensional (3D) structure of PAX3 helped verify the pathogenicity of a missense mutation, and multiple ligation-dependent probe amplification (MLPA) analysis of PAX3 increased the sensitivity of genetic diagnosis in patients with WS1.

Objectives: Clinical diagnosis of WS1 is often difficult in individual patients with isolated, mild, or non-specific symptoms.

Unilateral cochlear nerve hypoplasia in children with mild to moderate hearing loss.

Conclusion: Even if hearing loss is mild to moderate, the presence of cochlear nerve (CN) hypoplasia associated with retrocochlear disorders should be considered.

Objectives: CN hypoplasia is a term that refers to an absent cochlear nerve on high-resolution magnetic resonance imaging (MRI). Most cases of CN hypoplasia are associated with profound hearing loss.

Annual direct cost of dry eye in Japan.

Background: This study was performed to estimate the annual direct cost incurred by dry eye patients, which includes expenses for treatment and drugs, as well as the cost of punctal plugs.

Methods: The study group consisted of 118 dry eye patients aged 20 years or older who visited any of the 15 medical care facilities that participated in this prospective cohort dry eye study. We estimated annual direct costs from outpatient medical records and survey questionnaires obtained from patients.