Results 31 to 40 of about 1,474,438 (314)
Rare ophthalmology diseases
romanian journal of ophthalmology, 2019 Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis, Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu +9 moreopenaire +2 more sourcesMeasuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease
, 2022 Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘the ...Hampson, Caitlin, Caitlin Hampson, Lara Menzies, Evans, William, William Evans, Lucy McKay, McKay, Lucy, Menzies, Lara +7 morecore +1 more sourceRare disease education in Europe and beyond: time to act [PDF]
, 2022 People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently ...Baynam G., Fatkulina N., Graessner H., Hermanns S., Tumiene B., Ashton S., Scarpa M., Peterlin B., Utkus A., Pfliegler G., Blay J. -Y., McKay L., Melegh B., Peters H. +13 morecore +1 more sourceBiomarkers in Rare Diseases [PDF]
International Journal of Molecular Sciences, 2021 There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]openaire +2 more sourcesDeep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [PDF]
, 2013 Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These Vermeire, S, Richard H. Duerr (107855), Steve R. Brant, Barclay, M, Sharma, Y., Alikashani, Azadeh, Rutgeerts, P, Colombel, JF, Philippe Goyette, Franke, Andre,, Gautam Goel (457889), Sharma, Yashoda,, Targan, SR, Bresso, Francesca,, Lawrance, I, Ken Sin Lo (457887), Xavier, Ramnik, Jonas Halfvarson, Levine, A, International IBD Genetics Consortium, [missing], McGovern, Dermot P. B., Lo, KS, Regueiro, M, Ellinghaus, David, Stevens, Christine,, International IBD Genetics Consortium, Ahmad, T, D'Inca, R, Bitton, A., Ramnik J. Xavier (153776), Sharma, Y, Lo, K.S., International, I.B.D.G.C., Judy H Cho, Silverberg, MS, Franke, A., Beaudoin, Melissa,, Goel, G, Griffiths, AM, Törkvist, L, Quebec IBD Genetics Consortium, [missing], Azadeh Alikashani (457888), Caroline Lagacé, Weersma, Rinse K., D'Amato, M., Glas, J, Sharma, Yashoda, Weersma, Rinse K.,, Philip L Schumm, Lettre, G., Mowat, Craig; id_orcid, Panés, J, Gautam Goel, Ellinghaus, D., Stevens, C., Beaudoin, Melissa, Jostins, L, Vermeire, S., Guthery, SL, Annese, V, Bis, JC, Lettre, Guillaume, Mélissa Beaudoin, Radford-Smith, G., Azadeh Alikashani, Duerr, RH, Lagacé, C, Boucher, Gabrielle,, Radford-Smith, GL, Newman, W, Florin, T, Phillips, A, Philip L. Schumm (457892), Guillaume Lettre (163230), Weersma, R.K., Gearry, R, Goyette, P., van Gossum, A, Rioux, J.D., Silverberg, Mark S., Lee, J, Vermeire, Severine, Franchimont, Denis, Yashoda Sharma, Mark S Silverberg, Goel, Gautam,, Mauro D'Amato (191109), Daly, Mark J.,, Georges, M, Latiano, A, Duerr, R.H., Proctor, DD, Quebec IBD Genetics Consortium, Duerr, Richard H., Begun, Jakob,, Schreiber, Stefan, John D Rioux, Stevens, Christine, Bresso, F, Cho, Judy H., Schreiber, S., Leif Törkvist (191104), Rivas, M. A., Severine Vermeire, McGovern, D.P.B., Weersma, Rinse K.; id_orcid, Ladouceur, Martin,, Mitrovic, M, Halfvarson, J., Laukens, D, Brant, Steve R., Halfvarson, J, Halfvarson, Jonas, David Ellinghaus (87596), ?, ?, Yashoda Sharma (362205), , K.S. lo, Parkes, M, Mark J Daly, Vito Annese (212128), Lo, Ken Sin,, Rioux, JD, Guillaume Lettre, Manuel A. Rivas, Philip L. Schumm, Goyette, P, Silverberg, M.S., et al., Schumm, PL, Bitton, Alain, Goel, G., Brand, S, Xavier, Ramnik J.,, Christine Stevens (401796), John D. Rioux, Aumais, G, Martin Ladouceur (144366), Cohen, A, Van Gossum, André, Rivas, M.A., Cho, JH, Rivas, Manuel A.,, Cottone, M, Steve R Brant, Ramnik J Xavier, Schumm, Philip L.,, Ken Sin Lo, Cho, Judy H.,, Palmieri, O, Jakob Begun, Gabrielle Boucher, Xavier, R.J., Christine Stevens, Lettre, G, Halfvarson, Jonas,, Brant, S.R., McGovern, Dermot P. B.,, Daly, Mark J., Manuel A Rivas, Potocnik, U, Stevens, C, Begun, J., Philippe Goyette (215465), Ladouceur, M, Bitton, Alain,, Silverberg, Mark S.,, Dermot P B McGovern, McGovern, DPB, Lo, Ken Sin, Alain Bitton (259250), Balschun, T, Prescott, NJ, Boucher, Gabrielle, Anderson, CA, Bresso, F., Schreiber, S, Annese, Vito,, Lo, K. S., International IBD Genetics Consortium,, Schreiber, Stefan,, Francesca Bresso, Mark S. Silverberg, Montgomery, GW, Ladouceur, M., Lees, CW, David Ellinghaus, Mansfield, JC, Mathew, CG, Judy H. Cho, Kugathasan, S, Caroline Lagacé (215515), Franke, Andre, Satsangi, Jack, Weersma, RK, Bresso, Francesca, Mauro D'Amato, Ellinghaus, D, John D. Rioux (215621), McGovern, D.P., Lagace, C., D'Amato, Mauro, Lemann, M, Franke, A, Gabrielle Boucher (215508), Alikashani, Azadeh,, Begun, Jakob, Graham Radford-Smith, Lettre, Guillaume,, Leif Törkvist, Alain Bitton, Mark J. Daly, Deslandres, C, Mowat, C, Steinhart, AH, NIDDK IBD Genetics Consortium, [missing], Xavier, RJ, Boucher, G, Libioulle, C, Lees, Charlie, Rinse K. Weersma (131692), Richard H Duerr, Schumm, P.L., Ellinghaus, David,, Judy H. Cho (159806), Goel, Gautam, Martin Ladouceur, Kullak-Ublick, G, Törkvist, Leif,, Vito Annese, Lagace, Caroline,, D'Amato, Mauro,, Jakob Begun (273749), Begun, J, Alikashani, A., Annese, Vito, Brant, Steve R.,, Int IBD Genetics Consortium, Ponsioen, CY, Ladouceur, Martin, Graham Radford-Smith (457891), Radford-Smith, Graham L., Duerr, Richard H.,, Daly, M.J., Beaudoin, M., Goyette, Philippe, Torkvist, L., Lahaie, R, Dermot P. B. McGovern (179863), Rivas, Manuel A., Brant, SR, Edwards, C, Bayless, TM, Hakonarson, H, Ramnik J. Xavier, Gibson, Greg, Stefan Schreiber, Radford-Smith, Graham,, Louis, E, Mark S. Silverberg (179888), Annese, V., Beaudoin, M, Bernard, EJ, de Jong, DJ, Rivas, MA, Buning, C, Jong, D.J. de, Manuel A. Rivas (228371), Dermot P. B. McGovern, Haritunians, T, Goyette, Philippe,, Consortium, N.I.G., Rinse K. Weersma, Cho, J.H., Baldassano, RN, Mark J. Daly (210204), Andre Franke (77511), Lagace, Caroline, Denson, T, Franchimont, D, Mélissa Beaudoin (457886), NIDDK IBD Genetics Consortium, Alikashani, A, Boucher, G., D'Amato, M, Hugot, JP, Bitton, A, Severine Vermeire (5649814), Schumm, Philip L., Barrett, JC, Richard H. Duerr, Quebec, I.B.D.G.C., Rioux, John D., Steve R. Brant (457890), Andre Franke, Dubinsky, M, Stefan Schreiber (36915), Laukens, Debby, Daly, MJ, Bumpstead, S, Francesca Bresso (191101), Rinse K Weersma, Xavier, Ramnik J., Daly, Mark, Torkvist, Leif, Jonas Halfvarson (117749), Radford-Smith, Graham, Paré, P, Rioux, John D.,, Vermeire, Severine, +308 morecore +1 more sourceIncreased serum IL-2, IL-4, IL-5 and IL-12p70 levels in AChR subtype generalized myasthenia gravis
BMC Immunology, 2022 Background Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular junctions. Cytokines play important roles in facilitating the immune response and augmenting the pathogenic antibody production.Xiao Huan, Rui Zhao, Jie Song, Huahua Zhong, Manqiqige Su, Chong Yan, Ying Wang, Sheng Chen, Zhirui Zhou, Jiahong Lu, Jianying Xi, Sushan Luo, Chongbo Zhao +12 moredoaj +1 more sourceLipedema, a Rare Disease [PDF]
Annals of Rehabilitation Medicine, 2011 Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.Shin, Bae Wook, Sim, Young-Joo, Jeong, Ho Joong, Kim, Ghi Chan +3 moreopenaire +2 more sources
