You searched for "genetics"

735 results found

Molecular and genetic nature of skull base tumours drives management

This article reviews the molecular basis and paradigm shift in the diagnosis and management of skull base tumours. It is now known that the phenotype of meningiomas is influenced by their genotype. Endolymphatic sac tumours are observed in up to...

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...

Audiological symptoms in children with 18q deletion

18q deletion is a rare genetic condition that occurs in approximately one in 40,000 live births. Those born with this deletion often are born with a range of symptoms, including developmental delay, facial dysmorphism, autoimmune disorders and hearing loss. The...

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...

Current practice in cochlear implantation

From candidacy to surgery and rehabilitation, cochlear implant practice is evolving, with new technologies shaping outcomes for patients worldwide. Image courtesy of MED-EL. Cochlear implants restore a sense of hearing in the profoundly deaf, representing the most successful neuroprostheses available,...

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....

Database WG2. The Tinnitus Patient Database in the TINNET COST Action BM1306

Berthold Langguth describes an innovative project that is creating the world’s largest multi-national patient database containing standardised information on tinnitus and medical history, otological examination and psycho-acoustic measures of tinnitus. A challenge for tinnitus treatment and tinnitus research is the...

Physician illness

Getting in the zone, recognising our personal stress limits and looking after ourselves are vital components in our efforts to stay healthy advises Abbie Lane, after almost a generation of de-stressing others. They say a rugby player like Brian O’Driscoll...

Chronic rhinosinusitis management: back to the future?

Immunology is a dim and distant medical school memory to many ENT surgeons, but the increasingly complex immunology of chronic rhinosinusitis is fascinating (honestly!). Medical management options in CRS no longer just involves saline and steroids, and we need to...

From India to Bonnie Scotland

Not many people know that one of the UK’s first cochlear implant surgeons was Raj Singh, OBE, an Indian immigrant whose passions for otology and technology led him to found the Scottish Cochlear Implant Programme, and the Help to Hear...

The structure and function of DNA

DNA structure and replication Genetic information within multicellular organisms, including man, is stored in molecules of deoxyribonucleic acid (DNA), which reside within the chromosomes of each cell nucleus. A DNA molecule consists of two very long chains, or strands, of...

Genetic foundations of Ménière’s disease: changing the game

Sydney researchers reveal genetic roots of Ménière’s disease. Familial patterns and gene discoveries highlight autosomal inheritance in rare cases, transforming molecular insights. Ménière’s disease (MD) is a chronic disorder of the inner ear defined by clinical criteria of episodic vertigo...