You searched for "Genetics"

693 results found

Cochlear implantation in children with congenital long QT syndrome

Jervell and Lange-Neilsen syndrome is a condition where sensorineural deafness coincides with inherited abnormalities of the heart, resulting in prolonged ventricular repolarisation, frequently shown on an ECG with a prolonged QT interval. These children can present at implant centres for...

Intratympanic steroids - to give or not to give?

The treatment of idiopathic sudden sensorineural hearing loss (ISSNHL) is controversial and different modes of steroids have been tried without any universal consensus. Various authors have reported combined oral and intratympanic steroid therapy in SSNHL, with consistent results in several...

A novel scale for the assessment of tracheoesophageal voice quality – the SToPS

There is currently no assessment tool in widespread use that permits a valid and reliable perceptual assessment of voice quality following laryngectomy. Such a scale is needed to investigate the functional outcomes of surgical voice restoration and rehabilitation regimes. Existing...

Silent sinus syndrome: which approach offers the best outcome?

Silent sinus syndrome (SSS) is a rare condition with patients presenting as spontaneous, painless enophthalmos, hypoglobus, orbital asymmetry, and maxillary sinus collapse on the ipsilateral side. The orbital resorption occurs secondary to negative pressure created in the maxillary sinus by...

Multiple surgeries for RRP – does a greater number of operations result in a worse voice outcome?

Recurrent respiratory papillomatosis (RRP) of the larynx remains a challenging condition to treat, with a number of affected patients requiring multiple operations to remove recurrent disease over the course of their lifetime. At the most severe end of the spectrum,...

Bringing aged care back

Worldwide, our older population is increasing, and thus a need for the provision of care to older people is also increasing. Aged care may be informal, provided by unpaid carers; or formal, provided or subsidised by government or other organisations....

Compress to suppress the venous tinnitus

This interesting retrospective case series analyses the effectiveness of a modified surgical technique with retromastoid reconstruction of the sigmoid sinus by mechanical compression with Surgicel and bone wax packing under local anaesthesia for patients with venous pulsatile tinnitus related to...

Biologicals for severe chronic rhinosinusitis with nasal polyps. Any use?

Recent advances and knowledge of inflammatory endotypes of chronic rhinosinusitis with nasal polyps (CRSwNP) led to introduction of biological agents such as monoclonal antibodies targeting IgE (omalizumab) and Interleukins (ILs) such as IL4R alpha (dupilumab) and IL5. The European Academy...

Gastrostomy tube dependence following TORS

Transoral robotic surgery (TORS) for oropharyngeal squamous cell carcinoma (OPSCC) is now a well-established treatment modality for early (T1-T2) disease. Accumulating evidence suggests that one of its main benefits relative to conventional chemoradiotherapy is superior long-term functional outcome, especially with...

Training people with Parkinson’s disease and their partners to have better conversations

Parkinson’s disease is predominantly considered a motor disorder, impacting speech, particularly voice volume, amongst other physical functions. Language and cognitive difficulties, such as difficulties in word finding and social pragmatics are also a key feature of Parkinson’s disease. Given the...

Early results of the Cochlear Osia (active transcutaneous bone-conduction implant) in teenagers

This funded research trial involving 14 adolescents, aged 10 to 17 years, in the Toronto Hospital for Sick Kids was carried out just prior to the new Osia implant obtaining FDA approval for use in the USA. The majority had...

Balloon eustachian tuboplasty and inferior turbinectomy

This Taiwanese prospective case-control study looked at concurrent inferior turbinectomy (via submucosal turbinectomy) and balloon eustachian tuboplasty on symptoms related to eustachian tube dysfunction. A total of 50 patients who underwent inferior turbinectomy with balloon eustachian tuboplasty were recruited prospectively...