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Audiology in this issue...Genomics

Priya Carling, AuD, Director and Consultant Audiologist, Kent Hearing Ltd, UK. E: priya@Kenthearing.com As a working clinical audiologist, my focus every day is predominantly diagnostics of hearing loss, closely followed by management of ear pathology and rehabilitation of hearing loss...

Genetics and the newborn hearing screen: the future is now

Eliot Shearer shares the progress being made with newborn hearing screening 60 years on from where it started, and future directions for identifying hearing loss using physiologic, genetic and cCMV screening. Newborn screening had its birth in the early 1960s,...

Further understanding of GJB2 hearing loss

For many years, hearing loss has been an area which has attracted the interest of clinical and academic geneticists. Genetic testing for severe-profound hearing loss is now commonplace in many healthcare systems. Understanding the genetics of hearing loss has improved...

Cochlear Implants, Third Edition

Cochlear Implants is now in its third edition with the last addition being published in 2006. With the third edition being published in 2014 there have been eight years of development and research to take in to account and as...

One airway, one disease - not for everyone!

While 85% of asthmatic patients have rhinitis, only 20-30% with rhinitis have asthma. Together with atopic dermatitis (AD), rhinitis and asthma form a triad that tend to co-exist in patients (multimorbidity). This co-existence raises the possibility of genetic mechanism. Authors...

Innovative approaches to treating deafness

Shahar Taiber and Karen Avraham give us a summary of gene therapies for hearing loss, with an overview of limitations and what the future holds. Hearing loss is the most common sensory disorder. The last two decades have seen a...

The video head impulse test: an aid to the diagnosis of spinocerebellar ataxias

Spinocerebellar and Friedreich ataxias (SCA and FA) by their nature present in neuro-otology clinics. The diagnosis is ultimately genetic but the authors investigated the characteristics of the VOR using the video head impulse test (vHIT) in order to distinguish between...

Branchio Oto Renal syndrome

Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...

British Skull Base Society Clinical Consensus Document on Management of Head and Neck Paragangliomas (HNPGLs)

All forms of HNPGLs should be managed by a multidisciplinary team (MDT) of core members from skull base otolaryngology, head and neck surgery, clinical genetics, oncology, endocrinology, vascular surgery, radiology and pathology. Extended members include neurosurgery, endocrine surgery, nuclear medicine,...

Harnessing head and neck cancer genomics for personalised medicine

Luc Morris updates us on the future of cancer diagnosis and treatment, which lies in “personalised oncology”, where specific molecular alterations of each tumour will be identified, and matched with actionable alterations in existing therapies, ushering in the era of...

On the influence of sex on tinnitus burden and its phenotypes

One important aspect of the new paradigm in tinnitus research is to question basic assumptions. What associations does the sex of a person have with their experience of and reaction to tinnitus? Chris Cederroth raises the question and tells us...

Quality of life after cochlear implantation in the older population

Cochlear implants (CI) have been increasingly adopted in older adults with severe to profound hearing loss as a result of the growing and ageing world population. There is much interest in the cost-effectiveness and quality of life in CI users....