Publications by authors named "Joana Marques-Soares"

Background: Classification criteria for antiphospholipid syndrome (APS) issued by the American College of Rheumatology/European Alliance of Associations for Rhuematology necessitate a positivity for any of the 3 molecular targets: lupus anticoagulant, anticardiolipin (aCL) immunoglobulin G, or anti-β2 glycoprotein I (aβ2GPI) immunoglobulin G, with the latter 2 requiring concentrations > 40 units. This specification implies having standardized and comparable calibration strategies to achieve proper patient classification. In the past, calibrator tests suffered from poor standardization; thus, the 99th percentile was established as the cutoff point.

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Importance: Central retinal artery occlusion (CRAO) is typically associated with older patients with cardiovascular risk factors. However, its occurrence in younger patients without these risk factors suggests the need to explore rare genetic conditions. Identifying genetic disorders like adenosine deaminase 2 deficiency (DADA2), a vasculitic disease, can be critical in such cases to prevent further complications.

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Juvenile Temporal Arteritis (JTA) is a rare non-granulomatous vasculitis affecting the superficial temporal arteries, mostly in individuals under 45 years old. It is often misdiagnosed due to its benign nature and the absence of systemic symptoms. Herein, we present a case report of a 40-year-old woman who initially presented with painless nodules in the left temporal area.

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In Long COVID, dysfunction in the pituitary-adrenal axis and alterations in immune cells and inflammatory status are warned against. We performed a prospective study in a cohort of 42 patients who suffered COVID-19 at least 6 months before attending the Long COVID unit at Althaia Hospital. Based on Post-COVID Functional Status, 29 patients were diagnosed with Long COVID, while 13 were deemed as recovered.

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Article Synopsis
  • - CAPS is an autoinflammatory condition caused by specific genetic variants (NLRP3) that lead to excessive production of the inflammatory protein IL-1β, resulting in spontaneous inflammatory episodes even without external triggers.
  • - The study reveals that these NLRP3 variants create an always-active inflammasome that causes cell death (pyroptosis) and releases damaging substances like IL-18, while also showing that this process can be controlled by a selective inhibitor (MCC950) and is influenced by cellular signaling pathways (NF-κB).
  • - CAPS variants not only trigger inflammation but also impact metabolic pathways in immune cells, which helps modulate the immune response to balance defense against infections and prevent excessive inflammation linked to IL
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  • * Among 46 patients, conjunctivitis (56.5%) and uveitis (50%) were the most common eye conditions, with cataracts and posterior synechiae being the primary structural complications.
  • * The findings indicate that this cohort experienced less severe eye involvement compared to previous studies primarily focused on children, with effective treatment leading to good visual outcomes for most patients.
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  • Obstetric antiphospholipid syndrome (OAPS) is an autoimmune disorder that involves the formation of blood clots and has links to low complement levels during pregnancy.
  • A study of 1,048 women with OAPS found that those with low complement levels experienced shorter pregnancies, higher fetal loss rates, and more complications like fetal growth restriction compared to those with normal complement levels.
  • The findings suggest that addressing low complement levels through appropriate treatment could potentially reduce the adverse pregnancy outcomes associated with OAPS.
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Our report shows a case of primary light-chain amyloidosis in a young patient that reflects the potential severity of bleeding diathesis associated with this plasma cell dyscrasia and the difficulty of diagnosis when only hemorrhagic manifestations are present at the onset of disease. The patient presented with recurrent and severe muscular bleeding secondary to associated acquired von Willebrand disease and fibrinolysis dysfunction. Treatment with bortezomib-cyclophosphamide and sequential hematopoietic stem cell transplantation solved coagulation alterations.

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Antiphospholipid syndrome is an autoimmune disorder characterized by vascular thrombosis and/or pregnancy morbidity associated with persistent antiphospholipid antibody positivity. Cases fulfilling the Sydney criteria for obstetric morbidity with no previous thrombosis are known as obstetric antiphospholipid syndrome (OAPS). OAPS is the most identified cause of recurrent pregnancy loss and late-pregnancy morbidity related to placental injury.

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Identification of differentially expressed proteins in antiphospholipid syndrome (APS) is a developing area of research for unique profiles of this pathology. Advances in technologies of mass spectrometry brings improvements in proteomics and results in assessment of soluble or cellular proteins which could be candidates for clinical biomarkers of primary APS. The use of blood as a source of proteins ease the acquisition of samples for proteomics analyses and later for disease diagnosis.

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Article Synopsis
  • The study aims to assess how thrombocytopenia affects survival rates in patients with Antiphospholipid Syndrome (APS) over a 38-year period.
  • Among 114 patients studied, factors like thrombocytopenia, acute arterial events, and myocardial infarctions were linked to mortality risk, with thrombocytopenia showing a strong correlation even after adjusting for other factors.
  • The findings suggest that thrombocytopenia indicates a severe disease phenotype in APS patients and is associated with reduced long-term survival, especially when persistent or of low-moderate severity.
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