A clinicopathological study on the associations between ranulas and autoimmune diseases.
The study aimed to investigate autoimmune disease (AD) prevalence in ranula patients, analyse their clinicopathological features, and explore the associations between ADs and ranulas. This cross-sectional study enrolled surgically treated ranula patients between 2021 and 2023. AD diagnosis was estab…
Anti-centromere antibody positivity: a spectrum of clinical diagnoses and immunological patterns in a large patient cohort.
Anti-centromere antibody (ACA) positivity is recognized in diverse autoimmune diseases beyond systemic sclerosis (SSc). This study aimed to comprehensively characterize the clinical spectrum and serological profiles of ACA-positive (anti-CENP-B-positive) patients in a large cohort. This retrospectiv…
NIPT failure due to excessive chromosomal aberrations in an autoimmune pregnancy.
Noninvasive prenatal testing (NIPT) has been widely adopted in clinical practice for screening fetal aneuploidies and copy number variations (CNVs). However, a small proportion of cases exhibit unexplained test failures. This study reports a case with NIPT results showing Z-scores exceeding the refe…
The Role of Anti-Phosphatidylserine/Prothrombin Antibodies and the Lectin Complement Pathway in Anti-Phospholipid Antibody-Associated Preterm Delivery.
Antiphospholipid antibodies (aPL) may directly affect placentation and trigger local complement-mediated inflammation/thrombosis. Obstetric complications in the antiphospholipid syndrome (APS) are still frequent despite therapy/close monitoring, and the identification of new risk biomarkers is an un…
Viral metagenomic analysis of the blood virome in patients with multiple autoimmune diseases.
Autoimmune diseases are chronic and heterogeneous disorders resulting from the breakdown of immune tolerance and subsequent tissue damage. Beyond genetic predisposition, viral infections are increasingly recognized as pivotal environmental contributors to disease onset. In this study, we performed c…
Thrombocytosis in a patient with NUDT15 homozygous variant: clues in clinical pharmacogenetics.
A female patient diagnosed with an undifferentiated connective tissue disorder (UCTD) experienced progressive symptoms including hair loss, vomiting, diarrhoea and abdominal pain accompanied by haematological changes of anaemia, absolute neutropenia with thrombocytosis following 7 weeks of az…
Subclinical atherosclerosis in patients with undifferentiated connective tissue disease: comparison with rheumatoid arthritis.
To investigate the lipid profile and subclinical atherosclerosis in patients with undifferentiated connective tissue disease (UCTD), in comparison with rheumatoid arthritis (RA) and healthy individuals. This cross-sectional controlled study included 30 patients with UCTD, treated with conventional s…
Distinct immunological signatures in autoimmunity: a multi-plex analysis for the differential diagnosis of established and undifferentiated autoimmune diseases (a cross-sectional pilot study).
Clinical differentiation between systemic autoimmune diseases often relies on late-stage physical symptoms. This study evaluates whether serum cytokine "fingerprints" can provide earlier and more precise diagnostic clarity, particularly for clinically uncategorized patients. Serum samples from 60 pa…