You searched for "genomics"
Can writing reveal the timeline for future dementia diagnoses?
Frontotemporal dementia is the term for a group of dementias affecting behaviour and language. Thirty percent of FTD cases are associated with autosomal dominant mutations. There are three main genes that account for the majority of these genetic FTD cases...From the editor January/February 2024
Declan Costello, MA, MBBS, FRCS(ORL-HNS),Consultant Ear, Nose and Throat Surgeon, Wexham Park Hospital, Slough, Berkshire, UK. E: d.costello@nhs.netTw: @Voicedoctor_uk Welcome to January/February 2024 – I hope you have had a restful Christmas break and that you are raring to go...ENT and audiology in the Land of a Thousand Hills
Rwanda is a beautiful country known as the ‘Land of a Thousand Hills’. It is located in the Great Rift Valley in East Africa and shares borders with Uganda, Tanzania, Burundi, and the Democratic Republic of Congo, all offering direct...Minimally invasive craniotomy for middle fossa dura repair using the exoscope
A minimally invasive temporal craniotomy using an exoscope offers improved visualisation, ergonomics and recovery for middle fossa dural CSF leak repair. Cerebrospinal fluid (CSF) leak through a dural defect, regardless of the cause, typically requires surgical repair. Depending on the...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...
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...AUDIOLOGY - In conversation with Hans Henrik Philipsen
So your background is in social research, how did you develop an interest in this area? I have always had an immense curiosity when it comes to understanding other people and other cultures. My early experience as a teenager in...
Molecular and genetic nature of skull base tumours drives management
This article reviews the molecular basis and paradigm shift in the diagnosis and management of skull base tumours. It is now known that the phenotype of meningiomas is influenced by their genotype. Endolymphatic sac tumours are observed in up to...
Evolution of salivary gland pathology classifications
Targeted therapies for malignant salivary gland tumours have changed the treatment paradigm and therapy approaches. Better outcomes are now feasible. Choosing the treatment method requires a clear classification of the lesions. The authors of this paper reviewed the World Health...
Audiological symptoms in children with 18q deletion
18q deletion is a rare genetic condition that occurs in approximately one in 40,000 live births. Those born with this deletion often are born with a range of symptoms, including developmental delay, facial dysmorphism, autoimmune disorders and hearing loss. The...
