Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Autor: Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham

Publikováno v: Case Reports in Genetics, Vol 2022 (2022)

Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-assoc

Externí odkaz: https://doaj.org/article/d5aaa8b618f342bcaf2d01ac4e626ada

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An international Delphi exercise to identify items of importance for measuring response to treatment in ANCA-associated vasculitis

Autor: Kaitlin A. Quinn, Sara Monti, Robin Christensen, David Jayne, Carol A. Langford, Georgia E. Lanier, Alfred Mahr, Christian Pagnoux, Beverley Shea, Maria Bjork Viðarsdóttir, Gunnar Tomasson, Peter A. Merkel

Publikováno v: Quinn, K A, Monti, S, Christensen, R, Jayne, D, Langford, C A, Lanier, G E, Mahr, A, Pagnoux, C, Shea, B, Viðarsdóttir, M B, Tomasson, G & Merkel, P A 2022, ' An international Delphi exercise to identify items of importance for measuring response to treatment in ANCA-associated vasculitis ', Seminars in Arthritis and Rheumatism, vol. 55, 152021 . https://doi.org/10.1016/j.semarthrit.2022.152021

Objective: ANCA-associated vasculitis (AAV) is characterized by fluctuating levels of disease activity, but no formal criteria exist to measure response to treatment. This Delphi exercise aimed to reach consensus about which measures are considered b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3830364386ccd676370a5058fd36234c
https://pubmed.ncbi.nlm.nih.gov/35523065

Developing a composite outcome tool to measure response to treatment in ANCA-associated vasculitis: A mixed methods study from OMERACT 2020

Autor: Robin Christensen, Christian Pagnoux, Gunnar Tomasson, Carol A. Langford, Georgia Lanier, Sara Monti, Beverley Shea, Peter A. Merkel, Peter Tugwell, Maria Bjork Viðarsdóttir, A. Mahr, Kaitlin A. Quinn, David Jayne

Publikováno v: Quinn, K A, Monti, S, Christensen, R, Jayne, D, Langford, C A, Lanier, G E, Mahr, A, Pagnoux, C, Shea, B, Tugwell, P, Viðarsdóttir, M B, Tomasson, G & Merkel, P A 2021, ' Developing a composite outcome tool to measure response to treatment in ANCA-associated vasculitis : A mixed methods study from OMERACT 2020 ', Seminars in Arthritis and Rheumatism, vol. 51, no. 5, pp. 1134-1138 . https://doi.org/10.1016/j.semarthrit.2021.07.001

Objective The Outcome Measures in Rheumatology (OMERACT) Vasculitis Working Group aims to develop composite response criteria for ANCA-Associated Vasculitis (AAV). Methods The project follows the OMERACT approach for composite measures: (i) choose re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4c4061a237db0a734cfe792dd10cc8
https://pubmed.ncbi.nlm.nih.gov/34274125

Large-scale systematic review support for guideline development in diabetes precision medicine

Autor: Maria Björklund, Krister Aronsson

Publikováno v: Journal of the Medical Library Association, Vol 112, Iss 3 (2024)

Background: Involving librarians as team members can lead to better quality in reviews. To improve their search results, an international diabetes project involved two medical librarians in a large-scale project planning of a series of systematic rev

Externí odkaz: https://doaj.org/article/f96dbfbb3b5e43c0b94c8df1aacadaf3