Calprotectin impairs platelet survival in patients with primary antiphospholipid syndrome
ConclusionsThese data suggest that calprotectin has the potential to be a functional biomarker and a new therapeutic target for APS thrombocytopenia. (Source: Arthritis and Rheumatology)
Source: Arthritis and Rheumatology - January 16, 2024 Category: Rheumatology Authors: Claire K. Hoy,
Somanathapura K. NaveenKumar,
Sherwin A. Navaz,
Kavya Sugur,
Srilakshmi Yalavarthi,
Cyrus Sarosh,
Tristin Smith,
Katarina Kmetova,
Emily Chong,
Noah F. Peters,
Christine E. Rysenga,
Gary L. Norman,
Gabriel Figueroa ‐Parra,
Da Tags: Brief Report Source Type: research
Analysis of 245,368 diverse individuals in NIH All of Us Program finds incomplete penetrance of VEXAS ‐defining UBA1 p.Met41Leu somatic variant
ConclusionWe report the largest cohort to date of persons with the VEXAS-associated p.Met41Leu somatic variant. This cohort differed substantially from reported cohorts of patients with clinical VEXAS, having a higher proportion of persons who were young, female, and of diverse ancestry. Variant allele fractions were lower than reported in clinical VEXAS cohorts and bioinformatic analysis detected no clinical manifestations of VEXAS. Thus, theUBA1 p.Met41Leu somatic variant displayed incomplete penetrance for VEXAS. Further study is needed to determine the natural history of VEXAS-associated somatic variants in the pre-dis...
Source: Arthritis and Rheumatology - January 16, 2024 Category: Rheumatology Authors: Robert W. Corty,
James Brogan,
Kevin Byram,
Jason Springer,
Peter C. Grayson,
Alexander Bick Tags: Brief Report Source Type: research
Reply: Domain specificity and stochasticity of large language models
(Source: Arthritis and Rheumatology)
Source: Arthritis and Rheumatology - January 15, 2024 Category: Rheumatology Authors: Carrie Ye Tags: Reply Source Type: research
Analysis of 245,368 diverse individuals in NIH All of Us Program finds incomplete penetrance of VEXAS ‐defining UBA1 p.Met41Leu somatic variant
ConclusionWe report the largest cohort to date of persons with the VEXAS-associated p.Met41Leu somatic variant. This cohort differed substantially from reported cohorts of patients with clinical VEXAS, having a higher proportion of persons who were young, female, and of diverse ancestry. Variant allele fractions were lower than reported in clinical VEXAS cohorts and bioinformatic analysis detected no clinical manifestations of VEXAS. Thus, theUBA1 p.Met41Leu somatic variant displayed incomplete penetrance for VEXAS. Further study is needed to determine the natural history of VEXAS-associated somatic variants in the pre-dis...
Source: Arthritis and Rheumatology - January 15, 2024 Category: Rheumatology Authors: Robert W. Corty,
James Brogan,
Kevin Byram,
Jason Springer,
Peter C. Grayson,
Alexander Bick Tags: Brief Report Source Type: research
