| 1 | Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China显示文摘Hearing loss is the most frequent sensory disorder involving a multitude of factors,and at least 50% of cases are due to genetic etiology.To further characterize the molecular etiology of hearing loss in the Chinese population,we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2,GJB3,GJB6,SLC26A4,SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA,tRNA Ser(UCN) by PCR amplification and direct DNA sequencing.The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2,3.70% in GJB6,15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA,respectively.The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic hearing loss. | Yajie Lu Dachun Dai Zhibin Chen Xin Cao Xingkuan Bu Qinjun Wei Guangqian Xing | 2011 | The Journal of Biomedical Research2011，25，5： | 30 |
| 3 | Study of hearing screening for rural school children显示文摘Objective:To develop an appropriate mass screening system to evaluate hearing loss for primary school children,especially in rural areas.Methods:In Jiangsu Province,at a rural primary school-Longdu Primary School,317 of 479 rural students(from Grade 1 to Grade 6,over 50 students for each grade)were screened by,using the Chinese Hearing Questionnaire for School Children(CHQS).Two weeks later,they accepted transiently evoked otoacoustic emissions(TEOAEs)test.At the same time,all participants were given a ’gold standard’ audiological assessment that comprised of otoscopy,pure tone,and tympanometry.After eight weeks,103 out of the 317 students accepted the second TEOAEs and ’gold standard’ test to confirm the results.Results:There was no statistical difference in the results of two ’gold standard’ test(χ2 = 0.14,0.5 < P < 0.75).Compared with the ’gold standard’ results,the hit rate,sensitivity,specificity of the CHQS was 57% ± 2.78%,61% ± 10.18%,57% ± 2.89% respectively(α = 0.43,β = 0.39).Youden Index J,LR+,LR-,PV+ and PV-was 0.18 ± 0.11,1.42,0.68,0.10,0.95(Az < 0.54,EF = 0.75-0.95).While a higher system accuracy was obtained by TEOAEs[HR = 97 ± 0.71%,Sen = 69 ± 7.8%,Spe = 98 ± 0.52%(α = 0.02,β = 0.31),Youden Index J = 0.67 ± 0.08,LR+ = 34.5,LR-= 0.32,PV+ = 0.71,PV-= 0.99(Az = 0.85,EF = 0.97)].Conclusion:TEOAEs got a high efficiency and specificity values with reasonable sensitivity.However,CHQS needs substantial modifications to improve its sensitivity in evaluating hearing loss. | Xiaolu Li Xingkuan Bu Carlie Driscoll | 2006 | Journal of Nanjing Medical University2006，20，4： | 0 |
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