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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...Global health missions – not just for consultants. A guide for trainees.
Lulu Ritchie is a courageous and driven trainee in London, inspired by humanitarian missions but conscious of the usual requests for consultant level doctors. Lulu didn’t let that hold her back. She found a way and has kindly summarised her...Hearing about genes
I have been fortunate in my career to travel as an invited lecturer at many hospitals, universities and professional societies around the world. I have spoken to audiology societies, otolaryngology societies, and university communication disorders programmes in Europe, Asia, Africa,...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...In conversation with Professor Anne Schilder
Flying the flag for research in ENT, hearing and balance Anne Schilder is an NIHR Research Professor and leads the evidENT team at the Ear Institute at University College London. She also holds a Chair in Paediatric ENT at UCL...The process of medical innovation
You’ve got an amazing idea for a new device. It is going to change how your speciality of surgery is practised. It will lead to better operative results and lower risks to patients – that’s amazing, can I see it?...
Standardising videofluoroscopy assessment for bottle-fed babies
Swallowing problems in babies may occur for many reasons including complex medical problems, premature birth, and low birth-weight. Dysphagia causes several further morbidities such as poor nutrition and compromised respiration, often raising distress for both infants and their caregivers. Early...
