Publications by authors named "Mejbri M"
Article Synopsis
- A study on European FMF patients found that 20% experienced a diagnostic delay of over 10 years, with affected individuals being significantly older.
- Women were more likely to have this diagnostic delay compared to men, and specific symptoms like erysipelas-like erythema were more prevalent in delayed diagnosis cases.
- Delayed-diagnosis patients also had higher occurrences of AA amyloidosis and were more frequently treated with biotherapy, indicating more severe disease consequences.
Disease evolution in systemic juvenile idiopathic arthritis: an international, observational cohort study through JIRcohort.
Pediatr Rheumatol Online J
September 2023
Background: Systemic juvenile idiopathic arthritis (systemic JIA) is a severe disease with both systemic and joint inflammation. This study aims to identify predictors of disease evolution within the systemic JIA population enrolled in the Juvenile Inflammatory Rheumatism cohort (JIRcohort).
Methods: Observational patient cohort study with 201 recruited children from 4 countries (3 European, 1 North Africa) from 2005 until 2019, using retrospectively (2005-2015) and prospectively (2015-2019) routine care collected data.
PSTPIP1 (proline-serine-threonine phosphatase-interactive protein 1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome, previously known as Hyperzincemia/Hypercalprotectinemia (Hz/Hc) syndrome, is a recently described, rare auto-inflammatory disorder caused by specific deleterious variants in the gene (p.E250K and p.E257K).
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- Interleukin inhibitors are key treatments for conditions like colchicine-resistant familial Mediterranean fever (crFMF), mevalonate kinase deficiency (MKD), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), but the reasons for their use remain unclear.
- An analysis of data from an international registry and literature review revealed that the primary reasons for using IL-1 blockers include treatment failure, persistent disease activity, severe complications, and a decline in patients' quality of life.
- The study highlights the need for standardized treatment guidelines, suggesting that the findings could help develop a clear strategy for using IL-1 inhibitors in these hereditary recurrent fevers.
Chronic nonbacterial osteomyelitis (CNO) is an auto-inflammatory bone disorder with a wide spectrum of clinical manifestations, from unifocal to multifocal lesions. When it manifests with multifocal lesions, it is also referred to as chronic recurrent multifocal osteomyelitis (CRMO). CNO/CRMO can affect all age groups, with the pediatric population being the most common.
View Article and Find Full Text PDFSystemic juvenile idiopathic arthritis (sJIA) is a severe disorder now linked more to autoinflammation than to autoimmunity. Clinical and laboratory evidence support the pathogenetic role of interleukin-1 (IL-1), and blockade of this cytokine has proved to be very effective in the treatment of sJIA. There are now several agents that block IL-1 available on the market.
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