A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.

Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.

Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.

Audiovestibular Manifestations in Patients with Primary Raynaud's Phenomenon and Raynaud's Phenomenon Secondary to Systemic Sclerosis.

Objectives: To address the prevalence of audiovestibular disorders in patients with primary Raynaud's Phenomenon (RP). A series of patients with primary RP and secondary RP in the context of systemic sclerosis (SSc) were compared with healthy controls.

Methods: A prospective multicenter observational cross-sectional study was conducted in several Otolaryngology and Rheumatology Divisions of tertiary referral hospitals, recruiting 57 patients with RP and 57 age- and gender-matched controls.

Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.

Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D, and DPT have been involved in single families, suggesting genetic heterogeneity. In this study, the authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD.

Strategies for the practice of otolaryngology and head and neck surgery during the monitoring phase of COVID-19.

The appearance of a new coronavirus disease called COVID-19 at the end of 2019 and its pandemic expansion in the world has changed the usual practice of the specialty of Otorhinolaryngology (ENT). After a phase of exponential growth of infections, it has been possible to enter a phase of control of the spread of the disease in which the possibility of infection persists, and the appearance of new cases is considered acceptable by the health system. The aim of this document is to review the available evidence and propose strategies and recommendations for the medical-surgical practice of otorhinolaryngology and head and neck surgery, which allow establishing the usual activity, adapting the safety and efficacy standards to the current situation.

Differential Proinflammatory Signature in Vestibular Migraine and Meniere Disease.

Vestibular Migraine (VM) and Meniere's Disease (MD) are episodic vestibular syndromes defined by a set of associated symptoms such as tinnitus, hearing loss or migraine features during the attacks. Both conditions may show symptom overlap and there is no biological marker to distinguish them. Two subgroups of MD patients have been reported, according to their IL-1β profile.

Proinflammatory cytokines and response to molds in mononuclear cells of patients with Meniere disease.

Epidemiological studies have found a higher prevalence of allergic symptoms and positive prick tests in patients with Meniere's disease (MD); however the effect of allergenic extracts in MD has not been established. Thus, this study aims to determine the effect of Aspergillus and Penicillium stimulation in cytokine release and gene expression profile in MD. Patients with MD showed higher basal levels of IL-1β, IL-1RA, IL-6 and TNF-α when compared to healthy controls.

Practice Guidelines for the Diagnosis and Management of Benign Paroxysmal Positional Vertigo Otoneurology Committee of Spanish Otorhinolaryngology and Head and Neck Surgery Consensus Document.

Benign Paroxysmal Positional Vertigo is the most frequent episodic vestibular disorder. The purpose of this guide, requested by the committee on otoneurology of the Spanish Society of Otolaryngology and Head and Neck Surgery, is to supply a consensus document providing practical guidance for the management of BPPV. It is based on the Barany Society criteria for the diagnosis of BPPV.

Oculographic, Clinical Test of Sensory Integration and Balance and Computerized Dynamic Posturography Findings in Patients With Psoriatic Arthritis.

Objective: To assess the frequency and characteristics of the oculographic findings and the usefulness of the clinical test of sensory integration and balance (CTSIB) for the evaluation of balance in patients with psoriatic arthritis (PsA) by comparing this test with the computerized dynamic posturography (CDP).

Study Design: A series of consecutive patients that fulfilled the Moll and Wright criteria for PsA and matched controls were studied.

Setting: The study was performed at the Otolaryngology Division of a tertiary reference center.

Particle repositioning maneuver versus Brandt-Daroff exercise for treatment of unilateral idiopathic BPPV of the posterior semicircular canal: a randomized prospective clinical trial with short- and long-term outcome.

Objective: To compare the outcome and probability of recurrence in a series of patients with unilateral idiopathic benign paroxysmal positional vertigo of the posterior canal (PC-BPPV) that were randomly treated by Brandt-Daroff exercise (B-D exercise) or by particle repositioning maneuver (PRM).

Study Design: Randomized prospective clinical trial.

Setting: Tertiary referral center.

[Audiovestibular manifestations in systemic vasculitis].

Systemic vasculitides constitute a heterogeneous group of diseases with frequent overlapping in their clinical findings and the size of the vessels involved. They may be primary or secondary to other diseases. Their common characteristic is the inflammation of blood vessels, giving rise to ischaemia.