You searched for "genomics"

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Recurrent ENT infections in children – is it a sign of primary immunodeficiency disease?

ENT clinicians often come across children with recurrent ear, sinus and pulmonary infections. These recurrent infections, albeit common in childhood, can represent an early sign of primary immunodeficiency diseases (PIDD). PIDD is an underdiagnosed group of genetic disorders involving absent...

Clinicopathological features of follicular variant of papillary thyroid carcinoma

The follicular variant (FV) of papillary thyroid carcinoma (PTC) is characterised by the presence of nuclear features of PTC together with a follicular growth pattern. It is currently reported to make up 11.8% to 53.3% of all PTC cases. It...

Development of a new negative-pressure ventilatory support device: Exovent

The pandemic has driven innovation in ways that we have not seen for many decades. Intensive care medicine and ENT have been at the forefront of these advances, and our good friends David Howard (never one to put his feet...

A patient-centred approach from the patient’s point of view

Seeking help for hearing loss is often a big step for patients. Shari Eberts, a hearing health advocate living with hearing loss, explains why, and gives us her five top tips to improve patient-centred care in such cases. Sensorineural hearing...

Hearing loss and Alport syndrome

Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...

In memory of Robert Allan Yorston (10th March 1920 – 1st October 2016)

In this special feature article, Alan Gibb writes a touching tribute to his friend and colleague Dr Bob Yorston, a Dundee otolaryngologist, who had a special talent for humour and art. In addition to illustrating the eighth, ninth and tenth...

Adjoin™ bone conduction system

Patrik Westerkull (PW), Otorix AB, and Ann-Louise McDermott (A-LM), ENT Consultant at Birmingham Children’s Hospital, tell us about the Adjoin bone conduction device, a non-surgical bone-conduction option developed by Otorix. They explain how the product works, the background to the...

In conversation with Dr John Woo and Mr Derek Skinner

Dr John Woo and Mr Derek Skinner have between them an absolute wealth of experience and expertise in the fields of surgical training and specialist examinations. Here, they tell us about their involvement in surgical education, and explain some of...

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...

JAMA Network Reader

Accessing content from The Journal of the American Medical Association (JAMA) and its nine specialty journals (including JAMA Otolaryngology – Head & Neck Surgery) has now become a bit easier, thanks to an app designed for viewing JAMA articles on...

The ORL App: I challenge you to duel!

'Every day is a school day’ – an age-old saying that is as much a proverb as it is an instruction for allied health professionals. These days, it is hard to keep up with any sort of news - whether...

Biologics for deafness

Cochlear implants and hearing aids are inherently limited in their ability to restore ‘natural’ hearing. Biological therapy to treat inner ear pathology still is evolving rapidly with several ongoing clinical trials, though none are available for clinical practice to date....