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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...
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...
Expanding the role of FNA in thyroid nodule decision-making
Papillary thyroid cancer, the commonest histological type, has been extensively reported as having BRAF proto-oncogene mutations (most commonly the V600E mutation). There is great interest in BRAF as a molecular marker, particularly as a prognostic factor that may guide the...Genetic research on hereditary hearing loss and clinical application in the Chinese population
Congenital deafness in China affects more people than the entire population of Australia. Prof Wang give us a comprehensive insight into one of the main congenital disabilities in China, looking into the causes of deafness and the benefits of genetic...
Clinicopathological features of follicular variant of papillary thyroid carcinoma
The follicular variant (FV) of papillary thyroid carcinoma (PTC) is characterised by the presence of nuclear features of PTC together with a follicular growth pattern. It is currently reported to make up 11.8% to 53.3% of all PTC cases. It...The integration of targeted therapy and surgery in advanced thyroid cancer clinical trials
One of the headline speakers, Mark Zafereo, will be talking at IFOS about thyroid cancer. We hear from his team about some of the areas they will be discussing. Locally advanced thyroid cancer generally refers to patients who have significant...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...Interview with Mr Vasant Oswal, Emeritus Consultant ENT H&N Surgeon
British Medical Laser Association (BMLA) held its 39th annual conference, the first in-person gathering following the COVID-19 pandemic, in the academic surrounding of the Surgeons’ Quarters of the Royal College of Surgeons in Edinburgh. Chris Henson caught up with 87-year-old...Cancer genetics and signalling pathways in ENT – a review and discussion of how this can be applied to rare tumours
Introduction Cancer cases continue to increase worldwide, and head and neck cancer is a major global health issue, with an estimated global burden of over 630,000 new cases and over 350,000 deaths per year [1]. The term ‘head and neck...
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...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...
