You searched for "genetic"
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...
Basic Fundamentals in Hearing Science
The preface to this textbook explains that its inspiration came from an identified need to replace a previously discontinued hearing science textbook authored by Durrant and Lovrinic in 1995. This was an excellent resource that I used throughout my own...
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...
Tinnitus in patients on therapy with PPI and in PPI non–users
Tinnitus is a chronic and debilitating condition and approximately 10% of the population is afflicted. A myriad of pharmacological treatments for tinnitus are available but only a few controlled studies have shown positive results. The relationship between proton pump inhibitors...
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...
