We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants. Genetic sequencing revealed a homozygous mutation at the otoferlin splice donor site of exon 28 (IVS28 + 1G>T) in both siblings. Functional investigation showed that the intronic sequence between exo...

the  main  clinical presentation  of  patients  with  primary antibody  deficiency (pad) incorporates upper respiratory tract infections comprising otitis media, sinusitis and pneumonia.  this  study  was  designed  to  investigate clinical and  paraclinical otological complications in major types of pad.  a cross sectional study was conducted on 55 pad patients with diagnosis of selective iga ...

The effects of inner ear abnormality on audibility have been explored since the early 20th century when sound detection measures were first used to define and quantify 'hearing loss'. The development in the 1970s of objective measures of cochlear hair cell function (cochlear microphonics, otoacoustic emissions, summating potentials) and auditory nerve/brainstem activity (auditory brainstem resp...