You searched for "genetics"
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...Scientific advances in mapping syndromic hearing loss
From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...
Cochlear Implants, Third Edition
Cochlear Implants is now in its third edition with the last addition being published in 2006. With the third edition being published in 2014 there have been eight years of development and research to take in to account and as...In conversation with Chrysa Spyridakou, Robert Nash, Emma Clement, Nish Mehta and Anne GM Schilder
Jaclyn Tan interviews members of the London-based multidisciplinary hearing team, about their insights to auditory neuropathy spectrum disorder, and their vision for the future management of this challenging range of conditions. Auditory neuropathy spectrum disorder (ANSD) describes a wide range...Assessment of genetic disorders: congenital sensorineural hearing loss
Severe or profound sensorineural hearing impairment (SNHI) is a common birth defect, affecting approximately 1 in 1000 newborns [1]. SNHI may result from environmental causes or have a genetic basis. The genetic causes can be further subdivided into non-syndromic (isolated...
British Skull Base Society Clinical Consensus Document on Management of Head and Neck Paragangliomas (HNPGLs)
All forms of HNPGLs should be managed by a multidisciplinary team (MDT) of core members from skull base otolaryngology, head and neck surgery, clinical genetics, oncology, endocrinology, vascular surgery, radiology and pathology. Extended members include neurosurgery, endocrine surgery, nuclear medicine,...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...
One airway, one disease - not for everyone!
While 85% of asthmatic patients have rhinitis, only 20-30% with rhinitis have asthma. Together with atopic dermatitis (AD), rhinitis and asthma form a triad that tend to co-exist in patients (multimorbidity). This co-existence raises the possibility of genetic mechanism. Authors...Genomic testing for deafness and its implications
Gene therapies for hearing loss are rapidly advancing and will be transitioning to clinical practice. Here, the authors explain why clinicians involved in managing these disorders need to be aware of these advances. Genomic testing in England was significantly reconfigured...
The video head impulse test: an aid to the diagnosis of spinocerebellar ataxias
Spinocerebellar and Friedreich ataxias (SCA and FA) by their nature present in neuro-otology clinics. The diagnosis is ultimately genetic but the authors investigated the characteristics of the VOR using the video head impulse test (vHIT) in order to distinguish between...
