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Time to professionalise medical leadership

For a profession proud of its adherence to an evidence base, medicine has been remarkably slow to acknowledge and to act on the evidence which underpins the value of good leadership to patients and the healthcare system. Mr Robert Francis...

Precision and personalised genomic and epigenomic medicine in audiology/hearing loss

A detailed look at the pathogenesis of acquired hearing loss due to exposure to ototoxicity during pregnancy or shortly after birth. Insights from genomic medicine have shown that, along with environmental factors causing epigenetic alterations, hearing loss may be caused...

Genetic testing in congenital hearing loss

Advances in genetic testing over the last decade have reduced the cost and time such testing required and increased understanding of the genes involved in conditions like congenital hearing loss. This study from Atlanta looks at genetic testing from a...

Facing changes after surgery through portraiture

‘Facing Out: Life After Treatment for Facial Cancer’ was a two-year arts-for-health project funded by Arts Council England and The National Lottery which culminated in an exhibition at The Whitworth Art Gallery, Manchester, in February 2019. Here, artist and project...

The role of the multidisciplinary team in laryngology and airway – the Charing Cross experience

As the National Centre for Airway Reconstruction, the Charing Cross laryngology MDT provides expert care to patients with airway problems as well as voice and swallowing disorders. In this article, the team explain their raison d’etre and why the MDT...

The workplace environment and doctors’ health (ENT)

It is well established that doctors have higher levels of stress, depression and suicide than the general population [1] and most other professional groups (Figure 1 illustrates the factors that can make us ill). In addition they have high levels...

Non-absorbable synthetic material for middle fossa repair using a combined transmastoid/middle fossa approach

Repair of CSF leaks can be a challenging technical undertaking. In this article, the authors describe their use of a synthetic material to help with the successful repair of these leaks from the middle cranial fossa. Erosion of the middle...

Scientific advances in mapping syndromic hearing loss

From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...

Hearing loss and Alport syndrome

Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...

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...