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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...
Are we screening enough? Genetics in adult-onset sensorineural hearing loss
Sensorineural hearing loss (SNHL) in adults can be a result of multiple factors such as age, noise exposure and autoimmune pathology. In a group of patients, no cause is identified and the SNHL is treated as idiopathic. Authors evaluate the...
Can writing reveal the timeline for future dementia diagnoses?
Frontotemporal dementia is the term for a group of dementias affecting behaviour and language. Thirty percent of FTD cases are associated with autosomal dominant mutations. There are three main genes that account for the majority of these genetic FTD cases...Endoscopic ‘syringe and cutdown’ technique for nasolacrimal duct obstruction in children
This article presents a novel yet simple technique to help in the management of congenital NLDO. The authors propose it as a valuable addition to existing standard procedures. Congenital nasolacrimal duct obstruction (NLDO) is a condition encountered within the first...OBITUARY: Dr David Pothier
David Pothier passed away on July 27, 2018 in the early hours of the morning following a struggle with recurrent brain cancer. His passing extinguished a brilliant light, the likes of which few of us will witness in our lifetime....In conversation with Diana Terry: Winner of the ‘What Does Sound Look Like to You?’ art competition
The ‘What Does Sound Look Like to You?’ art competition, supported by ENT & Audiology News and Manchester Art Gallery, attracted many impressive entries! They were judged by HUGS Chair, Richard Bircher, along with Fiona Corridan, curator of Grayson’s Art...Are we making progress on tinnitus?
One of the aspects of tinnitus that drew me into it becoming a major theme of my clinical and research work was how little work had been done when I began to see patients in the mid 1980s. This struck...Endoscopic Dacryocystorhinostomy
Epiphora, or abnormal tearing, occurs because of blockage in the lacrimal drainage system, which impairs normal tear channeling into the nose. Dacryocystorhinostomy (DCR) is used to treat patients diagnosed with lacrimal sac or nasolacrimal duct obstruction (NLDO). External DCR was...Across the pond: a tale of two fellowships
Where in the world is Halifax? Many outside of Canada have never heard of the Maritime Canadian town of Halifax. Before leaving to start a year-long fellowship there, we both had to answer many questions from family and friends about...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...In conversation with Dr Naufal Kassim
Jane and I first met you six years ago, when we were questioning the apparent high incidence of childhood deafness in Tanzania, and it is a real pleasure doing this interview with you. Your contribution to ENT and general health...
