Publications by authors named "I Lemelle"
Objective: Data on the long-term outcome of patients with childhood-onset Systemic Lupus Erythematosus (cSLE) are scarce. Aims of this study were to describe the long-term outcomes of cSLE and to identify factors associated with the development of damage and persistent disease activity.
Methods: We conducted a retrospective multicentre study using data from the PEDIALUP registry of the Juvenile Inflammatory Rheumatism (JIR) cohort database.
Objectives: We aimed to compare clinical spectrum and outcome between adults and children with Takayasu's arteritis (TAK) in a European population.
Methods: We made a nationwide retrospective observational study between 1988 and 2019. All adult patients met the ACR diagnostic criteria for TAK and all children met the EULAR/PRINTO/PRES criteria for paediatric TAK.
Article Synopsis
- NLRP3-associated autoinflammatory disease is a collection of genetic disorders caused by mutations that lead to increased activity of the NLRP3 protein, which complicates diagnosis despite effective treatments available.
- The study explores 34 different NLRP3 mutations, illustrating their functional differences based on how they respond to various signals that activate them, and highlights their link to symptom severity and misdiagnosis.
- Findings reveal critical areas in the NLRP3 protein that affect its activity and response to treatments, offering new perspectives on the disorder's variability and potential directions for improving diagnosis and therapy.
The purpose of the study is to highlight clinical signs that are either suggestive of or against the diagnosis of AHEI to improve diagnosis and management. The medical records of children under 3 years old diagnosed with AHEI were retrospectively reviewed. Clinical data and photographs were reviewed by three independent experts, and the cases were classified as probable, doubtful, or unclear AHEI.
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- - Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene, particularly in exon 10, which codes for the B30.2 domain of the pyrin protein, a key player in the body’s inflammatory response.
- - Researchers found that the B30.2 domain is not essential for activating the pyrin inflammasome in response to bacterial toxins; instead, it acts as a negative regulator.
- - They also identified the central helical scaffold (CHS) domain, which, along with B30.2, provides distinct regulatory controls on the inflammasome activation, revealing how different mutations can affect inflammation responses in FMF patients.