OBJECTIVE: Evaluation of the effectiveness of imaging and genetic testing, and establishment of a cost-effective diagnostic protocol for the etiologic diagnosis of sensorineural hearing loss (SNHL) in Brazil. DESIGN: Prospective cohort study. STUDY SAMPLE: Analysis of 100 unrelated Brazilian patients with severe to profound bilateral SNHL submitted to cochlear implant (CI) between 2002 and 2010 at the University of Campinas hospital. The study was based upon three groups: individuals with congenital, progressive, and sudden SNHL. RESULTS: After the diagnostic investigation, the number of cases with unknown etiology was reduced from 72 to 42 (a 42% reduction); 25% of cases were due to environmental factors, 19% to genetic causes, and 14% to inner-ear abnormalities or other clinical features. The genetic and imaging findings contributed to the diagnosis of SNHL in 19% and 20% of the cases analysed, respectively. Molecular testing mainly contributed to the diagnosis of patients with congenital SNHL, while the contribution of radiologic examination was higher for individuals with progressive or sudden SNHL. A sequential diagnostic protocol was proposed based on these data. CONCLUSIONS: The proposed diagnostic workup algorithm could provide better optimization of etiologic diagnosis, as well as reduced costs, compared to a simultaneous testing approach.
OBJECTIVE: Evaluation of the effectiveness of imaging and genetic testing, and establishment of a cost-effective diagnostic protocol for the etiologic diagnosis of sensorineural hearing loss (SNHL) in Brazil. DESIGN: Prospective cohort study. STUDY SAMPLE: Analysis of 100 unrelated Brazilian patients with severe to profound bilateral SNHL submitted to cochlear implant (CI) between 2002 and 2010 at the University of Campinas hospital. The study was based upon three groups: individuals with congenital, progressive, and sudden SNHL. RESULTS: After the diagnostic investigation, the number of cases with unknown etiology was reduced from 72 to 42 (a 42% reduction); 25% of cases were due to environmental factors, 19% to genetic causes, and 14% to inner-ear abnormalities or other clinical features. The genetic and imaging findings contributed to the diagnosis of SNHL in 19% and 20% of the cases analysed, respectively. Molecular testing mainly contributed to the diagnosis of patients with congenital SNHL, while the contribution of radiologic examination was higher for individuals with progressive or sudden SNHL. A sequential diagnostic protocol was proposed based on these data. CONCLUSIONS: The proposed diagnostic workup algorithm could provide better optimization of etiologic diagnosis, as well as reduced costs, compared to a simultaneous testing approach.
Authors: Vanessa C S de Moraes; Emanuele Bernardinelli; Nathalia Zocal; Jhonathan A Fernandez; Charity Nofziger; Arthur M Castilho; Edi L Sartorato; Markus Paulmichl; Silvia Dossena Journal: Mol Med Date: 2016-01-04 Impact factor: 6.354
Authors: Uirá S Melo; Silvana Santos; Hannalice G Cavalcanti; Wagner T Andrade; Vitor G Dantas; Marine Rd Rosa; Regina C Mingroni-Netto Journal: Int J Mol Epidemiol Genet Date: 2014-02-17
Authors: Gabrielle N Manzoli; Guney Bademci; Angelina X Acosta; Têmis M Félix; F Basak Cengiz; Joseph Foster; Danniel S Dias Da Silva; Ibis Menendez; Isalis Sanchez-Pena; Demet Tekin; Susan H Blanton; Kiyoko Abe-Sandes; Xue Zhong Liu; Mustafa Tekin Journal: Ann Hum Genet Date: 2016-11 Impact factor: 1.670