You searched for "genetic"

1498 results found

What’s new in the cochlea?

Prof Furness in this article rounds up the steps and leaps being made by the scientific community to develop therapies to support, rejuvenate and / or replace the cochlear structures. David’s electron microscope images of the cochlear structures are world...

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...

Focus on ENT trainees with additional qualifications

In this Trainee Matters, we focus on ENT trainees with additional qualifications. Eight accomplished trainees tell Emma Stapleton how their achievements have benefitted them both professionally and personally. Their professional achievements have included a National Training Number in ENT, presentations,...

Government Guidance on Hearing Aids

The UK Government’s Department of Health and Social Care (DHSC) has announced that tens of thousands of people with hearing loss will have access to new hearing aid devices, thanks to fresh guidance allowing businesses around the world to sell certain pioneering hearing aids in the UK.

Hearing loss in the young and self-esteem

How can those involved in the care of children with hearing loss identify those at risk of low self-esteem? This study provides some guidance. Overall differences from hearing peers in terms of communication skills, physical appearance and social maturity place...

Stell & Maran’s Head and Neck Surgery and Oncology – Sixth Edition

After a wait of 14 years, Professors Vin Paleri, Terry Jones and Prathemesh Pai have edited and published the sixth edition of Stell & Maran’s Head and Neck Surgery and Oncology. For head and neck surgeons, this was a welcome...

eNOS and OME

The pathophysiology of otitis media with effusion (OME) is multifaceted. The authors tackled the nitrous oxide (NO) and platelet activating factor (PAF) pathways and the genetic polymorphism of endothelial nitrous oxide synthetase (eNOS). DNA analysis by PCR and restriction fragment...

Hereditary haemorrhagic telangiectasia

This is a very nicely written overview of this difficult condition by two expert rhinologists with a tertiary practice. The genetic basis, pathophysiology, diagnosis, natural history and available management options are all discussed. Clearly there is a large spectrum of...

Sulcus vocalis in patients attending voice clinics: A retrospective study

Sulcus vocalis was first described by Giacomini. This includes a variety of anatomic indentations of the vocal fold, ranging from shallow longitudinal furrows to deep vocal cord pits. This retrospective study was conducted at King Saud University between 2006 and...

Surviving oropharyngeal squamous cell carcinoma – does subsite matter?

Human papilloma virus (HPV) status is a known prognostic factor in oropharyngeal squamous cell carcinoma (OPSCC). The eighth edition of American Joint Cancer Committee (AJCC) has modified the TNM staging to reflect this. However, subsite as an independent prognostic factor...

Genetics of IP-III

The authors provide a literature review of the genetic basis and clinical features of incomplete partition (IP)-type III. The condition is seen typically in males and is due to mutation in the POU class 3 homeobox 4 (POU3F4) gene which...

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...