Title |
Cochlear implantation is safe and effective in patients with MYH9-related disease
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, June 2014
|
DOI | 10.1186/1750-1172-9-100 |
Pubmed ID | |
Authors |
Alessandro Pecci, Eva JJ Verver, Nicole Schlegel, Pietro Canzi, Carlos M Boccio, Helen Platokouki, Eike Krause, Marco Benazzo, Vedat Topsakal, Andreas Greinacher |
Abstract |
MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant platelets and have a variable risk of developing sensorineural deafness, kidney damage, presenile cataract, and liver abnormalities. Almost all MYH9-RD patients develop the hearing defect, which, in many individuals, progresses to severe to profound deafness with high impact on quality of life. These patients are potential candidates for cochlear implantation (CI), however, no consistent data are available about the risk to benefit ratio of CI in MYH9-RD. The only reported patient who received CI experienced perisurgery complications that have been attributed to concurrent platelet defects and/or MYH9 protein dysfunction. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Venezuela, Bolivarian Republic of | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 2% |
Unknown | 63 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 17 | 27% |
Student > Ph. D. Student | 7 | 11% |
Unspecified | 5 | 8% |
Student > Doctoral Student | 5 | 8% |
Student > Bachelor | 5 | 8% |
Other | 13 | 20% |
Unknown | 12 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 23 | 36% |
Nursing and Health Professions | 8 | 13% |
Unspecified | 5 | 8% |
Psychology | 5 | 8% |
Biochemistry, Genetics and Molecular Biology | 2 | 3% |
Other | 7 | 11% |
Unknown | 14 | 22% |