Next-generation sequencing improves precision medicine in hearing loss.

An early etiological diagnosis of hearing loss positively impacts children's quality of life including language and cognitive development. Even though hearing loss associates with extremely high genetic and allelic heterogeneity, several studies have proven that Next-Generation Sequencing (NGS)-based gene panel testing significantly reduces the time between onset and diagnosis. In order to assess the clinical utility of our custom NGS GHELP panel, the prevalence of pathogenic single nucleotide variants, indels or copy number variants was assessed by sequencing 171 nuclear and 8 mitochondrial genes in 155 Spanish individuals with hearing loss.

Checklist of the temporal bone and lateral skull base CT-scan.

Computed tomography scan of the temporal bone is a fundamental imaging modality for both the diagnosis and treatment of a wide range of pathologies affecting this complex structure. Temporal bone computed tomography scan provides a more detailed depiction of bone structures, compared with magnetic resonance imaging and, for this reason computed tomography scan is the imaging modality of choice in the planning of otological surgery. The aim of this article is to present a checklist to allow the otolaryngologist to assess systematically and in an organized manner the main anatomical landmarks, anatomical variants, as well as the most common postoperative surgical changes, which can be identified before any safe otological surgery.

Realistic Environment Audiometric Booth: Development and Clinical Validation.

Background: Technological developments to treat hearing loss with different types of hearing aids and auditory implants have improved the auditory perception of patients, particularly in highly complex listening conditions. These devices can be fitted and adapted to enhance speech perception. Audiological tests that assess hearing with and without auditory devices have traditionally taken place in sound-attenuated audiometric booths.

One-Year Results for Patients with Unilateral Hearing Loss and Accompanying Severe Tinnitus and Hyperacusis Treated with a Cochlear Implant.

Objective: To show that patients with unilateral hearing loss (UHL), with one ear fulfilling cochlear implant (CI) indication criteria, and an additional severe tinnitus handicap can be treated effectively with a CI.

Method: A prospective multi-centre study was conducted in five Spanish centres. Sixteen adult patients with UHL and a mean Tinnitus Handicap Inventory (THI) score of at least 58 were implanted.

Clinical guideline on bone conduction implants.

Introduction And Goals: During the last decade there have been multiple and relevant advances in conduction and mixed hearing loss treatment. These advances and the appearance of new devices have extended the indications for bone-conduction implants. The Scientific Committee of Audiology of the Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello SEORL-CCC (Spanish Society of Otolaryngology and Head and Neck Surgery), together with the Otology and Otoneurology Committees, have undertaken a review of the current state of bone-conduction devices with updated information, to provide a clinical guideline on bone-conduction implants for otorhinolaryngology specialists, health professionals, health authorities and society in general.