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| 1 | Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss显示文摘To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics. | LIU Xin,1 DAI Pu,1* HUANG Deliang,1 YUAN Huijun,1 LI Weiming,1 YU Fei,1 ZHANG Xin,1 KANG Dongyang,1 CAO Juyang,1 YANG Weiyan,1 HAN Dongyi,1 JIN Zhengce2, GUAN Minxin3 1. Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China2. Weihai Aomaier Gene Technological CO.,LTD.,Weihai,Shandong 264200, China.3. Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA | 2006 | Journal of Otology2006，1，1： | 7 |
| 2 | Molecular pathogenetic mechanism of maternally inherited deafness显示文摘 | GUAN Min - XinDivision and Program in Human Genetics and Center for Hearing and Deafaess Research,Cincinnati Children’s Hospital Medical Center, and Department of Pediatrics, Universityof Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2003 | 中华耳科学杂志2003，1，3： | 6 |
| 3 | Backward Propagation of Otoacoustic Emissions显示文摘Normal mammalian ears not only detect but also generate sounds. The ear-generated sounds, i.e., otoacoustic emissions (OAEs), can be measured in the external ear canal using a tiny sensitive microphone. In spite of wide applications of OAEs in diagnosis of hearing disorders and in studies of cochlear functions, the question of how the cochlea emits sounds remains unclear. The current dominating theory is that the OAE reaches the cochlear base through a backward traveling wave. However, recently published works, including experimental data on the spatial pattern of basilar membrane vibrations at the emission frequency, demonstrated only forward traveling waves and no signs of backward traveling waves. These new findings indicate that the cochlea emits sounds through cochlear fluids as compression waves rather than through the basilar membrane as backward traveling waves. This article reviews different mechanisms of the backward propagation of OAEs and summarizes recent experimental results. | HE Wenxuan,1, 2 REN Tianying,1, 21. Oregon Hearing Research Center, Department of Otolaryngology and Head & Neck Surgery, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, NRC04, Portland, Oregon 97239 USA 2. School of Medicine, Xi’an Jiaotong University, Xi’an, Shaanxi 710061 China | 2006 | Journal of Otology2006，1，1： | 4 |
| 4 | Mitochondrial DNA Mutations Associated with Aminoglycoside Ototoxicity显示文摘The mitochondrial 12S rRNA has been shown to be the hot spot for mutations associated with both aminoglycoside-induced and non-syndromic hearing loss. Of all the mutations, the homoplasmic A1555G and C1494T mutations at a highly conserved decoding region in the 12S rRNA have been associated with aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. The A1555G or C1494T mutation is expected to form novel 1494C-G1555 or 1494U-A1555 base-pair at the highly conserved A-site of 12S rRNA. These transitions make the secondary structure of this RNA more closely resemble the corresponding region of bacterial 16S rRNA. Thus, the new U-A or G-C pair in 12S rRNA created by the C1494T or A1555G transition facilitates the binding of aminoglycosides, thereby accounting for the fact that the exposure to aminoglycosides can induce or worsen hearing loss in individuals carrying these mutations. Furthermore, the growth defect and impairment of mitochondrial translation were observed in cell lines carrying the A1555G or C1494T mutation in the presence of high concentration of aminoglycosides. In addition, nuclear modifier genes and mitochondrial haplotypes modulate the phenotypic manifestation of the A1555G and C1494T mutations. These observations provide the direct genetic and biochemical evidences that the A1555G or C1494T mutation is a pathogenic mtDNA mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside antibiotic therapy, and eventually to decrease the incidence of deafness. | GUAN Min-Xin Division of Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA | 2006 | Journal of Otology2006，1，2： | 3 |
| 5 | Effects of Delayed Second Cochlear Implant显示文摘Objective Since Helms' successful bilateral cochlear implantation with good results in 1996, there have been increasing number of reports on bilateral cochlear implantation. Most second device have been implantated within one year after the first. Considering effects of long time auditory deprivation, it is not clear whether a delayed second cochlear implant serves to add additional benefits and how it may interact with central nervous system plasticity. Methods Three cases who received delayed second cochlear implants at People's Hospital of Peking University from 2002 to 2005 were reviewed. The interval between the first and second implants was longer than 2 years in all three patients. Sound perception, and unilateral/bilateral speech discrimination in quiet and noise were evaluated. In addition, GAP detection test was conducted in one patient. Results In one case, having both implants on provided improved performance compared to using only one implant both in quiet and noise. Presumably due to visual interference from lip-reading or short interval between second implant and testing, one patient showed no improvement from using the second implant either in quiet or noise, while the last case demonstrated additional benefits from the second implant only in quiet. In all three patients, performance in recognizing the four tones in Mandarin was superior over word recognition. Conclusions Considerable plasticity in the cerebral auditory center is preserved, despite long acoustic deprivation in some children who have received unilateral cochlear implant. Delayed second implants can result in significant improvements in some of these children. Visual interference from lip-reading may be an obstacle during retraining. The better recognition of tones in the Mandarin language may represent a different sound discrimination mechanism in the auditory system, although it may also be related to the signal processing mechanisms of the implant used (MED-EL COMBI 40+). | XIA Rui-ming1, WU Xi-hong2, JANG Zi-gang1, JING Yuan-yuan1, LIN Yun-juan1, YU Li-sheng1 1. Department of Otolaryngology, People’s Hospital, Peking University, P. R. China 11, Xizhimen South St, 100044 Beijing, P.R. China 2. Speech and Hearing Research Center, Peking University, China R.M. Xia, X.H. Wu, Z.G. Jang, Y.Y. Jing, Y.J. Lin, L.S.Yu | 2006 | Journal of Otology2006，1，2： | 2 |
| 6 | Newborn and infant hearing loss: Detection and intervention显示文摘 | American Academy of Pediatrics-- task force on newborn and infant hearing | 1999 | Pediatrics1999，103，： | 1 |
| 7 | Co-culture of mouse epidermal cells for studies of pigmentation显示文摘 | Yoon TJ Hearing VJ | 2003 | Pigment Cell Research2003，16，2： | 1 |
| 8 | Year 2000position statement:principles and guidelines for early hearing detection and intervention programs显示文摘 | JOINT COMMITTEE ON INFANT HEARING | 2000 | Pediatrics2000，106，： | 1 |
| 9 | Joint Committee on Lnfant HearingAmerican Academy of Audiology,American Academy of Pediatrics,American Speech-Language-Hearing Association,and Directors of Speech and Hearing Programs in State Health and Welfate Agencies显示文摘 | | 2000 | Pediatrics2000，106，4： | 1 |
| 10 | Year 2007 position statement:Principles and guidelines for early hearing detection and intervention programs显示文摘 | Joint Committee on Infant Hearing | 2007 | Pediatries2007，120，： | 1 |
| 11 | Immunization of mice with melanoma cells transfected to secrete the superantigen, staphylococcal enterotoxin A显示文摘 | David P. Shrayer Nicolas Kouttab Vincent J. Hearing Harold J. Wanebo | | 0，1998，： | 1 |
| 12 | Year 2007position statement:principles and guidelines for early hearing detection and intervention programs显示文摘 | JOINT COMMITTEE ON INFANT HEARING | 2007 | Pediatrics2007，120，： | 1 |
| 13 | Immunization of mice with melanoma cells transfected to secrete the superantigen, staphylococcal enterotoxin A显示文摘 | Kouttab N Hearing VJ Wanebo HJ | 1998 | Cancer Immunol Immunother1998，46，1： | 1 |
| 14 | Coculture of mouse epidermal cells for studies of pigmentation显示文摘 | Yoon TJ Hearing VJ | 2003 | Pigment Cell Res2003，16，： | 1 |
| 15 | Year 2007 position statement:Principles and guidelines for eary hearing detection and intervention programs 显示文摘 | American Academy of Pediatricas Joint Committee on Infant Hearing | 2007 | Pediatricas2007，120，： | 1 |
| 16 | Supplement to the JCIH 2007 position statement:principles and guidelines for early intervention after confirmation that a child Is deaf or hard of hearing显示文摘 | JOINT COMMITTEE ON INFANT HEARING | 2013 | Pediatrics2013，131，： | 1 |
| 17 | Committee on hearing and Equilibrium guidelines for the diagnosis and evaluation of therapy in Meniere's disease显示文摘 | Committee on Hearing and Equilibrium | 1995 | Otolaryng-Head-Neck Surg1995，113，： | 1 |
| 18 | Guide-lines for the identification of hearing impairment/handicap in a-dult/ elderly persons显示文摘 | American Speech - Language - Hearing Association | 1989 | ASHA1989，31，： | 1 |
| 19 | Biochemical control of melanogenesis and melanosomal organization 显示文摘 | Hearing VJ | 1999 | J Investig Dermatol Symp Proc1999，4，1： | 1 |
| 20 | Co - Culture of mouse epidermal cells for studies of pigmentation 显示文摘 | Yoon T J Hearing V J | 2003 | Pigment cell research2003，16，2： | 1 |
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