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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...

BACO – the early years

The origins of the British Academic Conference in Otolaryngology (BACO) are indelibly intertwined in the mists of time with the foundation of the British Association of Otolaryngology (BAO). For further information on the latter I can only refer the interested...

From patient to performer

Peter Cawrey lives in Harpenden, Hertfordshire, with his wife Dorothy. He had a salvage laryngectomy for squamous cell carcinoma in 2015, three years following his initial radiotherapy. Due to complications and a complex recovery, he has elected not to have...

Vocal cord dysfunction and dysfunctional breathing: an evolving clinical paradigm

Patients frequently present to the ENT department with breathing difficulties. The entity of ‘vocal cord dysfunction’ (also known as paradoxical vocal cord movement, inducible laryngeal obstruction, and many other names) is increasingly well recognised. Ravi Thevasagayam gives us an overview....

Audiology training in South Africa

There are many different ways to become an audiologist throughout the world and it is interesting to see how different some of the training routes can be. Dr Cherilee Rutherford, a lecturer in audiology at the University of Cape Town,...

Conspiring together: tinnitus and hearing loss

In this special feature, Nic Wray of the British Tinnitus Association and Zheng Yen Ng of The Ear Foundation present the results of their report into managing tinnitus for people with hearing loss. In September 2015, the British Tinnitus Association...

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...

In conversation with Dr Helen Bevan: Approaching change in the NHS with a new mindset

Dr Helen Bevan has been a leader of large scale change in the English National Health Service (NHS) for more than 20 years and was recently recognised as one of the 60 most influential people in the history of the...

From ‘patients’ to ‘participants’: a career in audiological research

Melanie Lough is a clinical audiologist-turned-research audiologist and, in this article, we hear about how she applies her transferable skills gained in audiology to her current role and future aspirations. Career background My route into audiology was unconventional to say...

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...

Genomic testing for deafness and its implications

Gene therapies for hearing loss are rapidly advancing and will be transitioning to clinical practice. Here, the authors explain why clinicians involved in managing these disorders need to be aware of these advances. Genomic testing in England was significantly reconfigured...

Patient and public involvement in research

One step further from involving patients in setting research priorities is to involve them in the planning and recruitment stages of the subsequent trials and studies. Here, Carl Philpott and Aneeka Degun explain the concept of Patient and Public Involvement...