Publications by authors named "C Dieval"
Article Synopsis
- Giant cell arteritis (GCA) is a common condition in individuals over 50 that can lead to serious issues like vision loss if not diagnosed quickly.
- This study assesses the effectiveness of using color Doppler ultrasound as the first step for diagnosing GCA, followed by temporal artery biopsy for those who test negative on the ultrasound.
- The findings showed that ultrasound confirmed GCA in 44% of cases, compared to 17% for biopsy and 21% for other methods, but the study had limitations like a small sample size and no objective gold-standard for comparison.
Background: The vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly identified autoinflammatory disorder related to somatic UBA1 mutations. Up to 72% of patients may show lung involvement.
Research Question: What are the pleuropulmonary manifestations in VEXAS syndrome?
Study Design And Methods: One hundred fourteen patients were included in the French cohort of VEXAS syndrome between November 2020 and May 2021.
Article Synopsis
- Systemic inflammatory and autoimmune diseases (SIADs) affect 10-20% of patients with myelodysplastic syndrome (MDS), with VEXAS syndrome being a newly identified condition linked to specific genetic mutations.
- This study aimed to analyze myeloid immune cell types (dendritic cells and monocytes) in MDS patients with and without SIADs, revealing significant reductions in these cells in those with SIADs, particularly in those with VEXAS syndrome.
- The findings suggest potential causes for the decreased immune cell counts, including movement to areas of inflammation, increased cell death, or issues with cell formation in the bone marrow.
Background: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome').
Objectives: To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome.
Methods: One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021.
Article Synopsis
- Primary or secondary immune deficiency (ID) is a rare risk factor for developing Waldenström macroglobulinemia (WM), with a study showing 3.6% of WM patients had a history of ID.
- Among these patients, half required treatment for WM within a median of 1.5 years after diagnosis, while the progression to active disease typically occurred 8 years after ID onset.
- The research suggests that while WM can arise from ID, the outcomes are generally not poor, with many cases remaining indolent despite the associated immune deficiency.