You searched for "Gene"
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...
Further understanding of GJB2 hearing loss
For many years, hearing loss has been an area which has attracted the interest of clinical and academic geneticists. Genetic testing for severe-profound hearing loss is now commonplace in many healthcare systems. Understanding the genetics of hearing loss has improved...
Are we screening enough? Genetics in adult-onset sensorineural hearing loss
Sensorineural hearing loss (SNHL) in adults can be a result of multiple factors such as age, noise exposure and autoimmune pathology. In a group of patients, no cause is identified and the SNHL is treated as idiopathic. Authors evaluate the...
Genetic testing in congenital hearing loss
Advances in genetic testing over the last decade have reduced the cost and time such testing required and increased understanding of the genes involved in conditions like congenital hearing loss. This study from Atlanta looks at genetic testing from a...Hyposalivation: a review of current and future treatments
Hyposalivation remains a stubbornly difficult condition to treat, but novel therapies may not be far away. Saliva has many essential functions, including aiding digestion and swallowing, lubrication, maintaining tooth integrity and antibacterial activity. When patients experience reduced saliva production (hyposalivation),...Genetic research on hereditary hearing loss and clinical application in the Chinese population
Congenital deafness in China affects more people than the entire population of Australia. Prof Wang give us a comprehensive insight into one of the main congenital disabilities in China, looking into the causes of deafness and the benefits of genetic...Branchio Oto Renal syndrome
Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...Hearing about genes
I have been fortunate in my career to travel as an invited lecturer at many hospitals, universities and professional societies around the world. I have spoken to audiology societies, otolaryngology societies, and university communication disorders programmes in Europe, Asia, Africa,...
Assessing the impact of e-cigarette smoke on the vocal fold
While the use of electronic-cigarettes (e-cigs) is increasing rapidly, little is known about the effects this has on the health of vocal fold. In this translational research study, authors compared the effects of e-cig vapour and cigarette smoke on an...Mind the gap – developing a sustainable pipeline for hearing therapeutics
In this article, the authors describe three key challenges faced in developing hearing therapeutics. Collaboration between companies, sectors and disciplines will be key to finding solutions. The unmet need for therapies for hearing loss grows apace, with prevalence rising across...ENT in this issue...The Future of ENT (Mar/Apr19)
Chris CoulsonENT Surgeon; Managing Director of endoscope-i E: chris@endoscope-i.com The future, predict it at your peril’, said me – just now. But despite this (rather late) warning, we have managed to commission five articles from futurists within our midst. The...
