|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 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 | 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 |
| 4 | 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 |
| 5 | Glycoprotein nonmetastatic melanoma protein b,a melanocytic cell marker,is a melanosome-specffic and proteolytically released protein显示文摘 | Hoashi T Sato S Yamaguchi Y Passeron T Tamaki K Hearing VJ | | 0，，5： | 1 |
| 6 | Complication avoid- ance: thoraeolumbar and lumbar burst fractures 显示文摘 | Hear RF Salas S Bono CM | 2006 | Neurosurg Clin N Am2006，17，3： | 1 |
| 7 | American A- cademy of Otolaryngology-Head and Neck Foundation显示文摘 | Committee on Hearing and Equilibrium guidelines for the diagno- sis and evaluation of therapy in Meniere's disease | 1995 | Oto- laryngol Head Neck Surg1995，113，3： | 1 |
| 8 | The adenovirus E1A oncoprotein recruits the cellular TRRAP/GCN5 histone acetyltransferase complex 显示文摘 | Lang S E Hearing P | 2003 | Oncogene2003，22，18： | 1 |
| 9 | Different cytokine mRNA profile in Grave's disease, Hashimoto's thyroiditis and nonautoimmune thyroid disorders determined by quantitive reverse transcriptase polymerase chain reaction (RT-PCR) 显示文摘 | Hear M Aust G Ode-Halcim S | 1996 | Thyroid1996，6，： | 1 |
| 10 | The replicator of the EpsteinBarr virus latent cycle origin of DNA replication,OriP, is composed of multiple functional elements显示文摘 | Koons MD Van Scoy S Hearing J | 2001 | J Virol2001，75，10： | 1 |
| 11 | American Academy of Otolaryngology-Head and Neck Foundation,Inc显示文摘 | Committee on Hearing and Equilibrium guidelines for the diagnosis and evaluation of therapy in Meniere's disease | 1995 | Otolaryngol Head Neck Surg1995，113，： | 1 |
| 12 | American Academy of Otolaryngology-Head and Neck Foundation显示文摘 | Committee on Hearing and Equilibrium guidelines for the diagnosis and evaluation of therapy in Meniere′s disease | 1995 | Otolaryngol Head Neck Surg1995，5，： | 1 |
| 13 | Environmental Impacts and Use of BrominatedFlame Retardants in Electrical and Electronic Equipment显示文摘 | HEAR S | 2008 | The Environmentalist2008，28，3： | 1 |
| 14 | Outbreak of hepatitis A in the injecting drug user and homeless populations in Bristol: control by a targeted vaccination programme and possible parenteral transmission显示文摘 | Syed Naveed A Hearing Stephen D Shaw Ian S etal | 2003 | Eur J Gastroenterol Hepatol2003，15，8： | 1 |
| 15 | American Academy of Otolaryngology-Head and Neck Foundation,Inc显示文摘 | Committee on Hearing and Equilibrium guidelines for the diagnosis and evaluation of therapy in Meniere's disease | 1995 | Otolaryngol Head Neck Surg1995，113，： | 1 |
| 16 | Bone tumors : osteosarcoma and Ewing's sarcoma显示文摘 | Heare T Hensley MA Dell'Orfano S | 2009 | Curr Opin Pediatr2009，21，3： | 1 |
| 17 | American Academy of Otolaryngology-Head and Neck Foundation, Inc 显示文摘 | Committee on Hearing and Equilibrium guidelines for the diagnosis and evaluation of therapy in M~ni~re' s disease | 1995 | Otolaryngol Head Neck Surg1995，113，3： | 1 |
| 18 | Infliximab in moderately severe glucocorticoid resistant ulcerative colitis: a randomised controlled trial 显示文摘 | Probert CSJ Hearing SD Schreiber S | 2003 | Gut2003，52，： | 1 |
| 19 | Refeeding syndrome 显示文摘 | Hearing S D | 2004 | BMJ2004，328，7445： | 1 |
| 20 | Severe theophylline poi- soning : charcoal haemoperfusion or haemodialysis? 显示文摘 | Higgins RM Hearing S Goldsmith D J | 1995 | Postgrad Med J1995，71，834： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员