You searched for "Usher"

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Living with Usher syndrome

“Usher people often still have sharp, clear central vision. It is the corner of their eye that is missing. This is why the Usher person often does not feel or look blind. In the early days they may not even...

Endoscopic stapes surgery - pearls and pitfalls

Endoscopic ear surgery has gained popularity in recent years with wide panoramic visualisation of the operative field one of its key strengths. This article summarises the approach, set-up and outcomes of patients undergoing endoscopic stapes surgery. A key step during...

Scientific advances in mapping syndromic hearing loss

From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...

Assessment of genetic disorders: congenital sensorineural hearing loss

Severe or profound sensorineural hearing impairment (SNHI) is a common birth defect, affecting approximately 1 in 1000 newborns [1]. SNHI may result from environmental causes or have a genetic basis. The genetic causes can be further subdivided into non-syndromic (isolated...

Cochlear implantation in enlarged vestibular aqueduct patients

In this systematic review, the authors describe the complications and outcomes of cochlear implantation in patients with enlarged vestibular aqueduct (EVA). The authors reviewed five major databases and included 4035 patients from 34 studies. Of these, 853 patients (21.14%) had...

A Treatise on Otosclerosis and its Treatment

Rinze Tange and I were co-authors for the otosclerosis chapters of both the seventh and eighth editions of Scott-Brown’s Otorhinolaryngology which he references in his book. It was particularly exciting therefore to receive this beautiful 363-page treatise on all that...

Genetics of IP-III

The authors provide a literature review of the genetic basis and clinical features of incomplete partition (IP)-type III. The condition is seen typically in males and is due to mutation in the POU class 3 homeobox 4 (POU3F4) gene which...

What’s new in genetic testing for hearing impairment?

Often the first question following the diagnosis of a hearing loss is ‘why?’ In this article Ali Danesh explores the advances made in uncovering ‘why’ from a genetics perspective. Ali describes the panel of genetic tests now commercially available to...

Is endoscopic stapes surgery safe and are outcomes comparable to microscopic stapes surgery

Endoscopic techniques for visualisation of the middle ear were described in 1967 by Mer and colleagues, and the use of transcanal endoscopic ear surgery (TEES) has since expanded to a wider range of otologic applications including tympanoplasty and excision of...

Hypoglossal nerve stimulation for OSA

Hypoglossal nerve stimulation has been lauded as the great new surgical treatment panacea for obstructive sleep apnoea (OSA). This meta-analysis includes 12 studies with a total of 350 patients, including the five-year follow-up data from the STAR trial which was...

Effects of air pollution and climate change on the upper airways

Dr Alexander Simidchiev is a specialist in internal medicine, pulmonary medicine and public health. He is the Co-Founder and President of Air for Health, a non-profit organisation aimed at educating medical professionals about the impact of air pollution and climate...

Internet-based aural rehabilitation (IAR)

Rapid information technology development allows use of the internet in several areas. It is therefore not surprising that online rehabilitation programmes attract a large interest of researchers worldwide. This study aimed to analyse what participants’ experiences of IAR are. The...