Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.

Nasal symptoms in patients with obstructive sleep apnea and their impact on therapeutic compliance with continuous positive airway pressure.

Continuous positive airway pressure (CPAP) is the first line treatment for moderate to severe obstructive sleep apnea syndrome. Despite the high effectiveness of this treatment, its use is often limited by suboptimal compliance and/or intolerance. Nasal side effects are considered a major cause of low therapeutic compliance.

Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?

Hypothesis: Focal sclerosis of one or more semicircular canals on computed tomographic (CT) scans and a corresponding signal loss on magnetic resonance (MR) imaging are radiologic lesions that are linked to patients who are suffering from advanced otovestibular impairment caused by hereditary DFNA9 hearing loss.

Background: DFNA9 is a hereditary hearing loss that is characterized by late-onset progressive imbalance and hearing deterioration, caused by mutations in the COCH gene. To date, no radiologic lesions have been associated with this condition.

Specific medical and surgical treatment for chronic inflammatory diseases in children.

Treatment for chronic inflammatory conditions in children should take into account the specific pathophysiological and clinical processes underlying these disorders. These guidelines provide a framework for both the medical and surgical treatment of chronic inflammatory diseases such as otitis media, allergic rhinitis and chronic rhinosinusitis, chronic inflammation of tonsils and adenoids, and laryngitis. In addition, the role of vaccinations and immunomodulatory therapies is discussed.

Fixation of cochlear implants: an evidence-based review of literature.

Hypothesis: There are numerous cochlear implant fixation techniques to prevent soft tissue complications related to device migration. The literature does not provide sufficient evidence to determine the most suitable fixation method.

Background: Cochlear implants (CI) are becoming a routine treatment for patients with severe to profound deafness.