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Precision and personalised genomic and epigenomic medicine in audiology/hearing loss
A detailed look at the pathogenesis of acquired hearing loss due to exposure to ototoxicity during pregnancy or shortly after birth. Insights from genomic medicine have shown that, along with environmental factors causing epigenetic alterations, hearing loss may be caused...Hidden genetic disorders in children that may present to the otolaryngologist
Background Among the many hundreds of children presenting to the otolaryngology clinic are a few whose symptoms are due to an underlying genetic condition. In most cases the underlying syndrome is obvious and has already been diagnosed, such as the...
How does the Dizziness Handicap Inventory (DHI) correlate with demographics and symptoms of patients?
The DHI is widely used to assess the self-perceived emotional, functional and physical disability in subjects with dizziness and balance problems. By studying the data of 568 patients retrospectively, the authors sought to determine the gender and age differences in...
Sleep Disordered Breathing in Children: A Comprehensive Clinical Guide to Evaluation and Treatment
This book offers a very comprehensive guide to sleep disorders in childhood. It is presented in six sections covering the normal upper airway, sleep during development, diagnostic assessment of sleep and breathing in children, sleep disordered breathing in children, the...
Avoiding the sweaty cheek
Frey’s syndrome is a common (10-40%) and important complication following parotid surgery. Gustatory sweating during oral stimulation can be embarrassing as it is accompanied by flushing and a sensation of heat. This is as a direct result of regenerated parasympathetic...
A rare superior tongue tie
The authors present a very rare case of ankyloglossia superior syndrome: first described in 1911 but with only 14 case reports in English literature it was of sufficient interest to discuss the aetiology, classification and management. As the palatal shelves...The role of the respiratory physician in sleep medicine
ENT surgeons may feel that they are the first point of referral for the majority of patients with snoring and possible obstructive sleep apnoea, but in reality a significant number of patients with sleep-disordered breathing (of any cause) are seen...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...Multidisciplinary approach to managing individuals with trisomy 21
Michelle Chung and Narad Mathura outline the Down syndrome one-stop clinic; a multidisciplinary clinic introduced at the Children & Young Persons Audiology Centre (CYPAC) at Guys and St Thomas’ NHS Foundation Trust for children and young people with Down syndrome....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...
Rhinotillexomania - how bad can nose picking get?
This is a fascinating first case report of rhinotillexomania associated with empty nose syndrome (ENS). Rhinotillexomania encompasses compulsive, pathological nose picking and is a variant of self-harm. Tranchito and Chhabra describe an elderly patient presenting with longstanding symptoms of nasal...
