↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Sebnem S) "

Search: WFRF:(Sebnem S)

Result 1-2 of 2

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Corbalan, R, et al. (author) Analysis of Outcomes in Ischemic vs Nonischemic Cardiomyopathy in Patients With Atrial Fibrillation: A Report From the GARFIELD-AF Registry 2019 In: JAMA cardiology. - : American Medical Association (AMA). - 2380-6591 .- 2380-6583. ; 4:6, s. 526-548 Journal article (peer-reviewed)
2.	Vallée, Tanja C, et al. (author) Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity. 2024 In: Blood. - 1528-0020. Journal article (peer-reviewed)abstract WAS is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% CI 78-87) at 15 years and 70% (61-80) at 30 years of age. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hotspot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared to 71% (62-81) and 48% (34-68) in patients with any other variant (class II; p<0.0001). The cumulative incidence rates of disease-related complications such as severe bleeding (p=0.007), life-threatening infection (p<0.0001), and autoimmunity (p=0.004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (p=0.6) was not different between classes I and II. This study represents the largest cohort of WAS patients studied so far. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of variant is a biomarker to predict the outcome for WAS patients.

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-2 of 2

Refine your search

Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Gjertsen, E (1); Chen, X. (1); Endo, M. (1); Ferrer, A. (1); Fournier, D. (1); Hirose, M. (1); show more...; Howard, J. (1); Jackson, P. (1); Kim, H. (1); Kobayashi, T. (1); Lee, H. (1); Li, H. (1); Li, L. (1); Liu, B. (1); Love, J. (1); Mueller, K. (1); Mueller, T. (1); Nakamura, T. (1); Nielsen, J. (1); Nowak, S. (1); Takeda, H. (1); Yamaguchi, H. (1); Yamamoto, K. (1); Zhang, R. (1); Haas, S. (1); Mazur, M. (1); Novakova, J. (1); Patel, N. (1); Davies, E. (1); Saito, T (1); Suzuki, S (1); Nikolaev, K. (1); Mori, T. (1); Kuznetsova, E. (1); Li, J. (1); Lutz, G. (1); Wright, D. (1); Kumar, S (1); Zhang, Y. (1); Clark, M. (1); Sharma, S. (1); Gustavsson, M (1); Kato, Y. (1); Ross, A. (1); Schwarz, T. (1); Wilson, P. (1); Yoshida, T. (1); Berge, T. (1); Dominguez, I. (1); Jacobs, P. (1); show less...

University: University of Gothenburg (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view