You searched for "hereditary"
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...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...
Vestibular functions of hereditary hearing loss patients with GJB2 mutations
Mutations of the GJB2 gene are a common cause of deafness, being found in 15-25% of cases of congenital deafness. Over 100 mutations are now recognised and may be associated with a hearing loss ranging from mild to profound. This...
Argon plasma coagulation for epistaxis in HHT
In this study from the Czech Republic, the authors looked at the effectiveness of argon plasma coagulation (a non-contact form of monopolar electrocoagulation) in treating recurrent epistaxis in patients with hereditary haemorrhagic telangiectasia (HHT). The advantage of argon plasma coagulation...
Thalidomide in HHT
An interesting paper from a specialist centre in the Netherlands regarding the use of thalidomide in HHT patients. The St Antonius hospital has 1238 patients with HHT and 1% of these use thalidomide. The aim was to assess the benefits,...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...
Age and sleep disorders as risk factors for Ménière’s disease
Decades after it was first described, the pathophysiology of Ménière’s disease is still a subject for research and discussion, with several controversies regarding its management. Several factors have been reported to cause Ménière’s disease including viral infections, allergies, genetic factors,...
An inherited platelet disorder in a post- tonsillectomy haemorrhage
Unexplained bleeding after any surgery is least desirable and to identify a cause for this preoperatively can be a very useful safeguarding measure. By looking for inherited platelet disorders in patients who bled after tonsillectomy, the authors of this publication...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...Genetic discovery using animal models: presbyacusis
By their very nature, late-onset hereditary disorders offer a large window of opportunity for therapeutic intervention. However, before we can begin to think about strategies we need knowledge of the genetics and pathology underlying the condition. In this article we...
