You searched for "Genetic"
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...
Age and sleep disorders as risk factors for Ménière’s disease
Decades after it was first described, the pathophysiology of Ménière’s disease is still a subject for research and discussion, with several controversies regarding its management. Several factors have been reported to cause Ménière’s disease including viral infections, allergies, genetic factors,...
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...
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...
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....
Evolution of salivary gland pathology classifications
Targeted therapies for malignant salivary gland tumours have changed the treatment paradigm and therapy approaches. Better outcomes are now feasible. Choosing the treatment method requires a clear classification of the lesions. The authors of this paper reviewed the World Health...
