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…
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…
Teclistamab for treatment-refractory autoimmune diseases: a multicentre case series.
This study aimed to evaluate the safety and efficacy of teclistamab, a T cell-redirecting bispecific antibody targeting B-cell maturation antigen, in a case series of severe autoimmune diseases. Data were retrospectively collected from patients with treatment-refractory systemic sclerosis (SSc), idi…
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…
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…
Lacrimal gland ultrasonography as an adjunct tool for Sjögren disease (SjD) diagnosis from undifferentiated connective tissue diseases.
Sjögren disease (SjD) is characterized by autoimmune lymphocytic infiltration of lacrimal and salivary glands, leading to dry eye and dry mouth. This study aimed to investigate the features and diagnostic value of lacrimal gland ultrasonography (LGUS) for distinguishing SjD from undifferentiate…