You searched for "genetic"
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...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...
Impact of delaying otologic surgery
In this Belgian study, the authors looked at the impact of delaying otologic surgery by sending an online survey to 44 adult patients diagnosed with benign ear pathology whose surgery was postponed due to the COVID-19 pandemic. The questionnaire was...
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...
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...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...
