Publications by authors named "J L Mege"
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.
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- The study investigates the presence and importance of autoantibodies against lysobisphosphatidic acid (aLBPA) in patients with antiphospholipid syndrome (APS).
- It compares 91 patients with antiphospholipid antibodies—60 symptomatic and 31 asymptomatic—to 33 controls, finding a higher prevalence of aLBPA among patients.
- The research suggests that testing for aLBPA alongside conventional antiphospholipid antibodies may help in managing APS, especially in deciding if asymptomatic patients should receive preventive treatment.
Objectives: This review aims to identify biological markers associated with the risk of recurrence of thrombotic and/or obstetric events in patients with antiphospholipid syndrome (APS).
Methods: A comprehensive review of literature was conducted to evaluate established and potential novel biological markers associated with thrombosis in APS. To this end, a PubMed literature search was conducted for the last twenty years using the following keywords or their combinations: thrombotic risk, recurrence of thrombosis, risk stratification, severity, predictive value.
Article Synopsis
- The study investigates the role of anti-RNP autoantibodies in diagnosing mixed connective tissue disease (MCTD) and distinguishing it from systemic lupus erythematosus (SLE).
- Researchers analyzed samples from 74 patients with anti-RNP autoantibodies, identifying that the ratio of autoantibodies targeting the U1-snRNP complex was significantly higher in MCTD patients compared to those with SLE.
- Findings suggest that assessing the overall RNP index is a more reliable diagnostic tool than evaluating individual autoantibodies, with potential implications for predicting disease progression.
Pregnant women represent a high-risk population for Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) infection. The presence of SARS-CoV-2 has been reported in placenta from infected pregnant women, but whether the virus influences placenta immune response remains unclear. We investigated the properties of maternal-fetal interface macrophages (MFMs) in a cohort of unvaccinated women who contracted coronavirus disease 2019 (COVID-19) during their pregnancy.
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