You searched for "genomics"

288 results found

Feeling like a fraud — imposter syndrome: what it is and what to do about it

Have you ever been plagued by feelings of incompetence despite evidence to the contrary, then this article is for you. Dr Dunay Schmulian provides insight into imposter syndrome and what to do about it. Excerpt 1 Senior Audiologist: That was...

Superior semicircular canal dehiscence syndrome

In this article, Hannah North and Simon Lloyd give us an overview of the complex condition of superior semicircular canal dehiscence (SSCD) syndrome, including diagnosis, treatment and management. Superior semicircular canal dehiscence (SSCD) is a bony defect of the otic...

The ear-brain connection in cochlear implant users: learning to listen again

While the cochlear implant (CI) has been a tremendous success in restoring hearing to deaf individuals, the implantation outcome still varies across CI users [1]. Some demographic factors, such as duration of deafness, and peripheral factors, such as electrode placement,...

Observations and ruminations - a week of collaboration and learning in Ghana

A week of surgical exchange in Ghana reveals the power of collaboration, resilience and mutual learning in advancing global ENT care. Isabelle JM Williams. Isabelle’s perspective It was a Saturday lunchtime at Heathrow airport, terminal 3. Professor David Howard, Miss...

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...

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...

A higher aspiration for fine needles

Fine needle aspiration biopsy (FNAB) has aided in the diagnosis and management of thyroid nodules for decades. Now a rapid evolution is hoped to benefit an increasing cohort of patients with small nodules and non-diagnostic investigations. This review discusses the...

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...

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...

The changing landscape for hearing loss therapeutics: novel advances of gene and cell therapies

Recent years have seen advances in hearing loss therapeutics, with novel treatments trialled in humans, and others nearing promising first-in-kind clinical trials. First successful clinical trials for a specific form of genetic hearing loss Very exciting news has emerged in...