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| 1 | SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct显示文摘Pendred syndrome(PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct(EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PSor SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are detected in the other 1/2. The presence of two mutant alleles of SLC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling. | Taku Ito Julie Muskett Parna Chattaraj Byung Yoon Choi Kyu Yup Lee Christopher K Zalewski Kelly A King Xiangming Li Philine Wangemann Thomas Shawker Carmen C Brewer Seth L Alper Andrew J Griffith | 2013 | World Journal of Otorhinolaryngology2013，3，2： | 2 |
| 2 | 卒中介入治疗培训指南:国际多学会共识文件显示文摘1背景
缺血性卒中是全球人口死亡和残疾的首要原因。很多急性大血管闭塞(emergent large vesselocclusion,ELVO)患者都会遗留长期残疾。事实上,这些颅内大动脉闭塞经常会导致大面积脑损伤,进而造成患者死亡或严重致残。 | Lavine SD Cockroft K Hoh B Bambakidis N Khalessi AA Woo H Riina H Siddiqui A Hirsch JA Chong W Rice H Wenderoth J Mitchell P Coulthard A Signh TJ Phatorous C Khangure M Klurfan P ter Brugge K Iancu D Gunnarsson T Pongpech S Rodesch G Soderman M Taylor A Krings T Orbach D Picard L Suh DC Zheng HQ Jansen O Muto M Szikora I Pierot L Brouwer P Gralla J Renowden S Andersson T Fiehler J Turjman F White P Januel AC Spelle L Kulcsar Z Chapot R Biondi A Dima S Taschner C Szajner M Krajina A Sakai N Matsumaru Y Yoshknura S Ezura M Fujinaka T Iihara K Ishii A Higashi T Hirohata M Hyodo A Ito Y Kawanishi M Kiyosue H Kobayashi E Kobayashi S Kuwayama N Matsumoto Y Miyachi S Murayama Y Nagata I Nakahara I Nemoto S Niimi Y Oishi H Satomi J Satow T Sugiu K Tanaka M Terada T Yamagami H Diaz O Lylyk P Jayaraman MV Patsalides A Gandhi CD Lee SK Abruzzo T Albani B Ansari SA Arthur AS Baxter BW Bulsara KR Chen M Almandoz JE Fraser JF Heck DV Hetts SW Hussain MS Klucznik RP Leslie-Mawzi TM Mack WJ McTaggart RA Meyers PM Mocco J Prestigiacomo CA Pride GL Rasmussen PA Starke RM Sunenshine PJ Tarr RW Frei DF Pabo M Nogueira RG Zaidat OO Jovin T Linfante I Yavagal D Liebeskind D Novakovic R Pongpech S 许岩 孙瑞 郭芮兵 | 2017 | 国际脑血管病杂志2017，25，5： | 2 |
| 3 | In vitro determination of drrect antimicrobial effect of calcium hydroxide显示文摘 | Estrela C Pimenta FC Ito IY | 1998 | J Endod1998，24，5： | 1 |
| 4 | RANKL, osteopontin, and osteoclast homeostasis in a hyper - occlusion mouse model 显示文摘 | Walker C Ito Y Dangaria S | 2008 | Eur J Oral Sci2008，116，4： | 1 |
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| 6 | Hyperdiploid acute lymphoblastic leukemia with 51 ~65 chromosomes: A distinct biological entity with a marked propensity to undergo apoptosis 显示文摘 | Ito C Kumagai M Manabe A | 1999 | Blood1999，93，1： | 1 |
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| 12 | Ag- ing affects lipopolysaccharide-induced upregulation of heme oxyge- nase-1 in the lungs and alveolar macrophages显示文摘 | Ito Y Betsuyaku T Moriyama C Nasuhara Y Nishimura M | 2009 | Biogerontology2009，10，2： | 1 |
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| 15 | Causal relationship between the loss of RUNX3 expression and gastric cancer显示文摘 | Li Q L Ito K Sakakura C | 2002 | Cell2002，109，1： | 1 |
| 16 | Three new coumarins from Murraya exotica 显示文摘 | Ito C Furukawa H | 1987 | Heterocycles1987，26，7： | 1 |
| 17 | Gastric bypass显示文摘 | Mason EE Ito C | 1969 | Ann Surg1969，170，3： | 1 |
| 18 | Steroid-resistant neutrophilic inflammation in a mouse model of an acute exacerbation of asthma显示文摘 | Ito K Herbert C Siegle JS | 2008 | Am J Respir Cell Mol Biol2008，39，5： | 1 |
| 19 | Staphylococcal cassette chromosome mec (SCCmec) typing of methicillin-resistant Staphylococcus aureus strains isolated in 11 asian countries:a proposal for a new nomenclature for SCCmec elements显示文摘 | Piriyapom C Ito T Xiaoxue M | 2006 | Antimicrob Agents Chemother2006，50，3： | 1 |
| 20 | Cancer chemoprovenfive agents, 4 -phenylcoumarins from Calophyllum inophyllum显示文摘 | Itoigawa M Ito C Tan H T Kuchide M etal | 2001 | Cancer Letters2001，169，1： | 1 |
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