You searched for "genetic"

1085 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...

Basic Fundamentals in Hearing Science

The preface to this textbook explains that its inspiration came from an identified need to replace a previously discontinued hearing science textbook authored by Durrant and Lovrinic in 1995. This was an excellent resource that I used throughout my own...

Quality of life measurement tools in children with speech and language difficulties

The authors of this paper reviewed various quality of life measurement tools which are used to assess the effects of speech and language difficulties in children and adolescents. Measuring quality of life outcomes in children with these difficulties is not...

Tinnitus in patients on therapy with PPI and in PPI non–users

Tinnitus is a chronic and debilitating condition and approximately 10% of the population is afflicted. A myriad of pharmacological treatments for tinnitus are available but only a few controlled studies have shown positive results. The relationship between proton pump inhibitors...

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...

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,...

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...

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...