|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | GJB2 mutation spectrum in deaf population in a typical southeastern area of China显示文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible. | DAI Pu1*, YOU Yi-wen2*, CUI Jing-hong2*, YU Fei1, HAN Bing 1, KANG Dong-yang1, YUAN Hui-jun1, HAN Dong-yi1, 1. Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic China, 100853 2. Department of Otolaryngology, Nantong University Affiliated Hospital, Nantong, Jiangsu Province, People’s Republic China, 226001 *Pu Dai, Yiwen You, Jinghong Cui contribute equally to this paper | 2006 | Journal of Otology2006，1，2： | 10 |
| 2 | Applications of finite element simulation in orthopedic and trauma surgery显示文摘Research in different areas of orthopedic and trauma surgery requires a methodology that allows both a more economic approach and the ability to reproduce different situations in an easy way. Simulation models have been introduced recently in bioengineering and could become an essential tool in the study of any physiological unity, regardless of its complexity. The main problem in modeling with finite elements simulation is to achieve an accurate reproduction of the anatomy and a perfect correlation of the different structures, in any region of the human body. Authors have developed a mixed technique, joining the use of a three-dimensional laser scanner Roland Picza captured together with computed tomography(CT) and 3D CT images, to achieve a perfect reproduction of the anatomy. Finite element(FE) simulation lets us know the biomechanical changes that take place after hipprostheses or osteosynthesis implantation and biological responses of bone to biomechanical changes. The simulation models are able to predict changes in bone stress distribution around the implant, so allowing preventing future pathologies. The development of a FE model of lumbar spine is another interesting application of the simulation. The model allows research on the lumbar spine, not only in physiological conditions but also simulating different load conditions, to assess the impact on biomechanics. Different degrees of disc degeneration can also be simulated to determine the impact on adjacent anatomical elements. Finally, FE models may be useful to test different fixation systems, i.e., pedicular screws, interbody devices or rigid fixations compared with the dynamic ones. We have also developed models of lumbar spine and hip joint to predict the occurrence of osteoporotic fractures, based on densitometric determinations and specific biomechanical models, including approaches from damage and fracture mechanics. FE simulations also allow us to predict the behavior of orthopedic splints applied to the correction of deformities, providing the recovering force-displacement and angle-moment curves that characterize the mechanical behavior of the splint in the overall range of movement. | Antonio Herrera Elena Ibarz José Cego?ino Antonio Lobo-Escolar Sergio Puértolas Enrique López Jesús Mateo Luis Gracia | 2012 | World Journal of Orthopedics2012，3，4： | 8 |
| 3 | 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 |
| 4 | 4例虹膜蔓状血管瘤光学相干体层成像术血管造影特征显示文摘血管畸形中失调的TGF-β/BMP信号通路
血管树正确的结构要求调控管腔形成,血管生长和重塑的信号通路激活并达到平衡。当这一平衡被打破时,会出现血管发育畸形。该文旨在回顾转化生长因子(TGF)-β、骨形成蛋白(BMP)信号通路在血管形成和发展中的作用。胚胎期灭活这些信号通路,将导致血管组织变异。 | Chien JL Sioufi K Ferenczy S Say EAT 张凌 Cunha SI Magnusson PU Dejana E | 2017 | 中国口腔颌面外科杂志2017，15，6： | 6 |
| 5 | Summary reports of research on alkali-activated slag显示文摘 | Pu X C Gan C C Wang S D | 1988 | Cement and Concrete1988，，8： | 1 |
| 6 | A new disease in rabbits显示文摘 | Liu S J Xue H P Pu B Q | 1984 | Anima Husb Vet Med1984，16，： | 1 |
| 7 | 2-Mercaptobenzothiazole-bonded silica gel as selective adsorbent for preconcentration of gold, platinum and palladium prior to their simultaneous inductively coupled plasma optical emission spectrometric determination显示文摘 | Pu Q S Su Z X Hu Z D | 1998 | J At Anal Spectrom1998，13，4： | 1 |
| 8 | Evidence of nanocrystalline semiconducting graphene monoxide during thermal reduction of graphene oxide in vacuum显示文摘 | Mattson E C Pu H Cui S | 2011 | ACS nano2011，5，： | 1 |
| 9 | Knowledge Based Reconstruc- tion of Building Models from Terrestrial Laser Scan- ning Data 显示文摘 | Pu S Vosselman G | 2009 | ISPRS Journal of Photogrammetryand Remote Sensing2009，64，6： | 1 |
| 10 | Freeze-drying of human red blood cells: influence of carbohydrates and their concentrations显示文摘 | Yu Jianping Liu J H Pu L Q Cui Xiangdong Wang Changzheng Ouyang S L Gao Dayong | 2004 | Cell Preservation Technology2004，2，4： | 1 |
| 11 | Recognizing basic structures from mobile laser scanning data for road inventory studies显示文摘 | Pu S Rutzinger M Vosselman G | 2011 | ISPRS Journal of Photogrammetry and Remote Sensing2011，66，6： | 1 |
| 12 | Selective use of bilateral inferior petrosal sinus sampling in patients with adrenocortieotropin-dependent Cushing's syndrome prior to transsphenoidal surgery显示文摘 | Jehle S Walsh JE Freda PU | 2008 | J Clin Endocrinol Metab2008，93，： | 1 |
| 13 | Interacting appetite - regulating pathways in the hypothalamic regulation of body weight 显示文摘 | Kalra SP Dube MG Pu S | 1999 | Endocr Rev1999，20，1： | 1 |
| 14 | Application of2-mercaptobenzothiazole-modified silica gel to online preconcentration and separation of silver for its atomic absorption spectrometric determination显示文摘 | Pu Q S Sun Q Y Hu Z D | 1998 | Analyst1998，123，2： | 1 |
| 15 | Orexins, a novel family of hypothalamie neuropeptides, modulate pituitary luteinizing hormone secretion in an ovarian steroid-dependent manner 显示文摘 | Pu S Jain M R Kalra P S | 1998 | Regulatory Peptides1998，78，： | 1 |
| 16 | GATA4 is adosage-sensitive regulator of cardiac morphogenesis显示文摘 | Pu WT Ishiwata T Juraszek AL Ma Q Izumo S | 2004 | Dev Biol2004，275，1： | 1 |
| 17 | Self-trapping of a Fermi superfluid in a double-well potential in the Bose-Einstein-condensateunitarity crossover 显示文摘 | ADHIKARI S K LU H PU H | 2009 | PhysRev A2009，80，： | 1 |
| 18 | Interacting appetite-regulating pathways in the hypothalamic regulation of body weight显示文摘 | Kalra SP Dube MG Pu S | 1999 | Endocr Rev1999，20，1： | 1 |
| 19 | Isolstion and characterization of methicillin-resistant Staphylococcus aureus strains from Louisiana retail meats显示文摘 | Pu S Han F Ge B | | 0，，01： | 1 |
| 20 | Long non-coding RNA expression profiles predict clinical phenotypes in glioma 显示文摘 | Zhang X Sun S Pu JK | 2012 | Neurobial Dis2012，48，： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员