Authors’ reply Ana B Gago-Veiga, Josué Pagán, Kevin Henares, Patricia Heredia, Nuria González-García, María- Irene De Orbe, Jose L Ayala, Mónica Sobrado, Jose Vivancos Headache Unit, Department of Neurology, Instituto de Investigación Sanitaria Hospital Universitario de la Princesa, Madrid 28006, Spain We value Fang et al’s comments, and thank them for the insights provided on our recent work. We understand some of the comments, but we would like to let you know why we decided to present the results in the most suitable way from the perspective of the analysis performed using machine-learning techniques. View the original paper by Gago-Veiga and colleagues.
Abstract Background The development of cognitive impairment may be delayed if its risk factors are identified and detected, if its developmental trend can be predicted, and if early intervention can be performed. This study primarily aimed to investigate the association between global cognitive function and hearing loss, educational level, and occupation type and to determine any differences in such associations according to sex among older Chinese adults. Methods In this cross-sectional study, we prospectively recruited 219 individuals above 55 years old in an otolaryngology outpatient clinic who could write independently and had no severe vision impairment. Audiometric examinations included otoscopy, acoustic immittance, pure-tone audiometry, and speech audiometry for each ear. Cognitive function was evaluated by using the Chinese version of the Mini-Mental State Examination (MMSE). Multivariable linear regression analyses were performed to evaluate the relationship between variables and MMSE scores after adjusting for independent variables that were statistically significant in the univariable analyses. Results We enrolled 219 individuals: 98 men (mean ± standard deviation age, 63.08 ± 6.64 years) and 121 women (62.64 ± 7.17 years). The overall MMSE scores of the normal hearing group and the mild, moderate, and severe-to-profound hearing loss groups were 24.00 (5.00), 24.00 (5.00), 23.00 (5.00), and 23.00 (13.00), respectively. MMSE scores were higher among participants with higher educational levels ( p < 0.001) and were significantly correlated with occupation type ( p < 0.001). MMSE scores were significantly higher in men than in women ( p < 0.001). However, after the analysis of the five subdomains, significant differences were only observed for attention and calculation ( p < 0.001) and language ( p = 0.011). We further compared the distribution of educational levels between men and women by using the chi-square test; there was no significant difference in educational level between the sexes ( p = 0.070). Conclusions We reported statistically significant relationships between global cognitive function and sex, educational level, and occupation type. Sex-specific strategies may be required to improve healthcare policies.
Objective:To investigate the spectrum and incidence of the hot-spot deafness gene mutations of 277 patients with cochlear implantation in Sichuan province, and to provide information of the prevention and treatment for clinical application. Method: The data of the hotspot deafness gene mutations screening of 277 patients with cochlear implantation was analyzed retrospectively. A deafness related gene mutations detection kit was used to detect 9 mutation sites in four deafness-associated genes,including GJB2(35delG,176del16,235delC,299delAT), GJB3(538C>T),SLC26A4(2168A>G, IVS7-2A>G), Mitochondrial 12SrRNA(1494C>T, 1555A>G). Result: ① A total of 122 patients with hot-spot Deafness Gene Mutations were detected in 277 cochlear implantation patients(44.04%),among which there were 39 patients were GJB2235delC homozygous mutation(14.08%), 23 patients were GJB2 235delC heterozygous mutation(8.30%), 1 patient was GJB2 299delAT homozygous mutation(0.36%), 2 patients were GJB2 176del16& 235delC compound heterozygous mutation(0.72%), 13 patients were GJB2 235delC& 299delAT compound heterozygous mutation(4.69%), 2 patients were SLC26A4 2168A>G heterozygous mutation(0.72%), 16 patients were SLC26A4 IVS7-2A>G homozygous mutation(5.78%), 22 patient were SLC26A4 IVS7-2A>G heterozygous mutation(7.94%), 1 patients was SLC26A4 2168A>G& IVS7-2A>G compound heterozygous mutation(0.36%), 2 patients were mitochondrial 12SrRNA gene 1555A>G homogenous mutation(0.72%), 1 patient carried both GJB2 235delC homozygous mutation and SLC26A4 IVS7-2A>G heterozygous mutation(0.36%). ②A total of 49 patients with LVAS were found in 277 cochlear implantation patients: including 15 patients with IVS7-2A>G homozygous mutation(30.61%), 22 patients with IVS7-2A>G heterozygous mutation(44.90%), 1 patient with 2168A>G heterozygous mutation(2.04%), 1 patient with complex heterozygosis mutations of 2168A>G and IVS7-2A>G(2.04%), 1 patient with GJB2 235delC homozygous mutation(2.04%) and 1 patient with GJB2 235delC&299delAT compound heterozygous mutation(2.04%), and no hotspot deafness gene mutations were found in 8 patients. ③There were 40 out of 277 cochlear implantation patients with definite family history.There was no statistic difference of the detection rate of hot-spot deafness gene mutations between in patients with family deafness history (57.50%) and in patients without family deafness history (41.77%). ④A total of 273 patients with profound binaural deafness were found among 277 cochlear implantation patients. Three patients with profound deafness in right ear and severe deafness in left ear were found among 277 cochlear implantation patients.Two patients of three were SLC26A4 IVS7-2A>G heterozygosis mutations, and one patient of three was GJB2 235delC heterozygosis mutations; 1 patient with profound deafness in left ear and severe deafness in right ear was found among 277 cochlear implantation patients,and was GJB2 235delC heterozygosis mutations. Conclusion:① The detection rate of hotspot deafness gene mutations in 277 cochlear implantation patients is 44.04%(122/277). GJB2 Mutation is the most common, SLC26A4 mutation takes the second place, mitochondrial 12SrRNAgene mutation is not common and GJB3 mutation is not found in this study.② SLC26A4 mutation may not be the sole pathogenic factor of LVAS. ③ The results of this study suggest that the genetic background of cochlear implants patients has little effect on the data of the hotspot deafness gene mutations screening.