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    Assessment of disease activity in large-vessel vasculitis: Results of an international delphi exercise
    (Journal of Rheumatology, 2017) Aydin S.Z.; Direskeneli H.; Merkel P.A.; Toloza S.; Blockmans D.; Sato E.I.; De Souza A.W.S.; Cabral D.; Carette S.; Famorca L.; Khalidi N.; Milman N.; Yacyshyn E.; Tesar V.; Baslund B.; Faurschou M.; Guillevin L.; Puéchal X.; Aries P.; Hellmich B.; Herlyn K.; Holle J.; Lamprecht P.; Moosig F.; Neumann T.; Zwerina J.; Tómasson G.; Bambery P.; Jois R.; Rajasekhar L.; Sharma A.; Sivakumar R.; Molloy E.; Hashkes P.; Catapano F.; Cimino L.; De Fanti A.; Pipitone N.; Salvarani C.; Vaglio A.; Kobayashi S.; Suzuki K.; Flores-Suárez L.F.; Hinojosa-Azaola A.; Brouwer E.; Rutgers A.; Stegeman C.; Suppiah R.; Hollan I.; Arguis P.; Cid M.C.; Daikeler T.; Alibaz-Oner F.; Hamuryudan V.; Hatemi G.; Hazirolan T.; Inanc M.; Kalayci M.B.; Kamali S.; Kansu T.; Karaaslan Y.; Karadag O.; Keser G.; Onat A.M.; Ozbalkan Z.; Ozen S.; Ozer H.T.E.; Pamuk Ö.N.; Yilmaz S.G.; Basu N.; Casian A.; Chakravarty K.; D'Cruz D.; Edelsten C.; Harper L.; Jayne D.; Levy J.; Mason J.; Robson J.; Scott D.; Stanford M.; Watts R.; Albert D.; Amudala N.; Beckman J.; Chacko B.; Chung S.; Fessler B.; Giardino A.; Grayson P.; Hunder G.; Langford C.; Lerman M.; Liang K.; Litt H.; Mason T.; Matteson E.; Mikdashi J.; Mohler E.; Monach P.; Rice B.; Sharma A.; Sreih A.; Stone J.; Tsapatsaris N.; Villa-Forte A.; Warrington K.; Yazici Y.; Ytterberg S.
    Objective. To arrive at consensus for candidate outcomes for disease activity assessment in largevessel vasculitis (LVV) in clinical trials. Methods.A Delphi survey including 99 items was circulated among international experts for 3 rounds. Results. Fifty-seven items were accepted for both giant cell arteritis and Takayasu arteritis. Sixty-seven percent of experts voted to have a common approach for both diseases with additional disease-specific items such as weight loss, scalp tenderness/necrosis, morning stiffness, dizziness, visual symptoms, and imaging. Conclusion. This study highlights similarities and differences in experts' perspectives for assessing clinical activity in LVV and may guide a consensus-driven core set of validated outcomes. Copyright © 2017. All rights reserved.
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    Identification of susceptibility loci in IL6, RPS9/LILRB3, and an intergenic locus on chromosome 21q22 in takayasu arteritis in a genome-wide association study
    (John Wiley and Sons Inc., 2015) Renauer P.A.; Saruhan-Direskeneli G.; Coit P.; Adler A.; Aksu K.; Keser G.; Alibaz-Oner F.; Aydin S.Z.; Kamali S.; Inanc M.; Carette S.; Cuthbertson D.; Hoffman G.S.; Akar S.; Onen F.; Akkoc N.; Khalidi N.A.; Koening C.; Karadag O.; Kiraz S.; Langford C.A.; Maksimowicz-Mckinnon K.; McAlear C.A.; Ozbalkan Z.; Ates A.; Karaaslan Y.; Duzgun N.; Monach P.A.; Ozer H.T.E.; Erken E.; Ozturk M.A.; Yazici A.; Cefle A.; Onat A.M.; Kisacik B.; Pagnoux C.; Kasifoglu T.; Seyahi E.; Fresko I.; Seo P.; Sreih A.G.; Warrington K.J.; Ytterberg S.R.; Cobankara V.; Cunninghame-Graham D.S.; Vyse T.J.; Pamuk O.N.; Ercan Tunc S.; Dalkilic E.; Bicakcigil M.; Yentur S.P.; Wren J.D.; Merkel P.A.; Direskeneli H.; Sawalha A.H.
    Objective Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. Methods Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. Results We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10-9), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10-8), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10-10). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10-8). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 × 10-5) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B. Conclusion Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis. © 2015, American College of Rheumatology.