Discovery of core genes for systemic lupus erythematosus via genome-wide aggregated trans-effects analysis.

The "omnigenic" hypothesis postulates that the polygenic effects of common variants on a typical complex trait coalesce on relatively few core genes through trans-effects on their expression. Our aim was to identify core genes for systemic lupus erythematosus (SLE) by testing for association with genome-wide aggregated trans-effects (GATE) scores for gene expression in a large genetic dataset (5267/4909 SLE cases/controls). SLE was strongly associated with upregulation of expression of eight interferon-stimulated genes driven by shared trans-effects.

Cross-Trait Meta-Analysis Reveals a Genetic Link between Inflammation and Aging in Giant Cell Arteritis.

Giant cell arteritis (GCA) is a complex inflammatory disease affecting individuals over 50 suggesting a strong link with aging-related immune and vascular changes. However, the precise mechanisms underlying this age-related susceptibility remain poorly understood. Considering the relevance of aging in GCA, genetic factors influencing biological aging markers, such as telomere shortening and epigenetic age acceleration (EAA), might also contribute to its development.

Unraveling the molecular landscape of Erdheim-Chester disease: new insights from methylome and transcriptome integration.

Erdheim-Chester Disease (ECD) is a rare histiocytosis characterized by a wide spectrum of clinical manifestations. Although somatic mutations have been involved in ECD, its etiology remains poorly understood. This study aimed to identify novel molecular mechanisms involved in ECD through the first integrated methylome and transcriptome analysis.

Genome-wide DNA methylation study reveals specific signatures in the affected arterial tissue of giant cell arteritis patients.

Objectives: Giant cell arteritis (GCA) is a large-vessel vasculitis, potentially causing complications such as blindness and strokes. This study aims to gain insights into the pathogenesis of GCA by identifying specific DNA methylation signatures in the arterial tissue of patients with this vasculitis.

Methods: DNA methylation profiling was analyzed in 79 temporal artery biopsy samples (69 patients with GCA and 10 controls) by performing an epigenome-wide association study (EWAS).

Assessing the promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease.

Objective: The common gain-of-function variant rs35705950, located in the promoter of gene, has been strongly associated with interstitial lung diseases (ILDs) of different aetiology, such as idiopathic pulmonary fibrosis (IPF) and rheumatoid arthritis-associated ILD (RA-ILD). In this study, we aimed to investigate the association of this variant and its nearby single nucleotide polymorphisms (SNPs) in the largest cohort of systemic sclerosis-associated ILD (SSc-ILD) to date.

Methods: Samples were collected from blood/saliva, followed by DNA extraction and genotyping using SNP arrays.

Targeted photocatalytic whitening with LED/laser-activated hydrogen peroxide gels containing nitrogen-doped TiO: A multi-study clinical analysis of efficacy, sensitivity, and energy optimization.

Objective: This study assessed the clinical efficacy, safety, and energy parameters of 6 % and 15 % hydrogen peroxide (HP) gels containing nitrogen-doped titanium dioxide (N-TiO₂), activated by dual-wavelength light sources.

Materials And Methods: A pooled analysis was performed using data from six randomized controlled trials with harmonized protocols. All gels incorporated N-TiO₂ nanoparticles as visible-light-sensitive photocatalysts and were activated using a blue LED (450 ± 10 nm) and an infrared laser (808 ± 10 nm).

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.

Objectives: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to identify novel protein-coding variants and pathogenic pathways using exome sequencing (ES) integrated with an Evolutionary Action-Machine Learning (EAML) framework, single-cell RNA sequencing (scRNA-seq), and expression quantitative trait locus (eQTL) analysis.

Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.

Objectives: Sjögren's disease (SjD) and systemic lupus erythematosus (SLE) share genetic risk at the DDX6-CXCR5 locus (11q23.3). Identifying and functionally characterising shared SNPs spanning this locus can provide new insights into common genetic mechanisms of autoimmunity.

Color Matching and Stability of Single-Shade Chameleon Dental Composites: A Systematic Review.

Objective: This systematic review evaluates the color-matching ability (ΔE values) and chromatic stability of single-shade chameleon dental resin composites in restorative dentistry.

Methods: A comprehensive search of PubMed, Scopus, Web of Science, Embase, and Cochrane Library was conducted following PRISMA guidelines. Studies assessing color adaptation and stability of single-shade composites in vitro, in clinical trials, and in retrospective analyses were included.

Modulating the spin-flip rates and emission energies through ligand design in chromium(iii) molecular rubies.

Three homoleptic spin-flip (SF) emitters, namely [Cr(Mebipzp)] (1), [Cr(IMebipzp)] (2) and [Cr(bip*)] (3), have been successfully synthesized and characterized. The weak distortion compared to a perfect octahedron imparts favourable structural properties to the three complexes, which display spin-flip (SF) luminescence at approximately 740 nm with quantum yields in the range of 9-11% for 1 and 2 in deaerated acetonitrile solutions at 25 °C. Time-resolved luminescence and transient UV-vis absorption experiments unveiled lifetimes for the lowest-lying MC (metal-centered) of 1.

The relationship between gut and nasopharyngeal microbiome composition can predict the severity of COVID-19.

Coronavirus disease 2019 (COVID-19) is a respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that displays great variability in clinical phenotype. Many factors have been described to be correlated with its severity, and microbiota could play a key role in the infection, progression, and outcome of the disease. SARS-CoV-2 infection has been associated with nasopharyngeal and gut dysbiosis and higher abundance of opportunistic pathogens.

An international perspective on the future of systemic sclerosis research.

Systemic sclerosis (SSc) remains a challenging and enigmatic systemic autoimmune disease, owing to its complex pathogenesis, clinical and molecular heterogeneity, and the lack of effective disease-modifying treatments. Despite a century of research in SSc, the interconnections among microvascular dysfunction, autoimmune phenomena and tissue fibrosis in SSc remain unclear. The absence of validated biomarkers and reliable animal models complicates diagnosis and treatment, contributing to high morbidity and mortality.

Age, anticoagulants, hypertension and cardiovascular genetic traits predict cranial ischaemic complications in patients with giant cell arteritis.

Objectives: This project aimed to determine whether cranial ischaemic complications at the presentation of giant cell arteritis (GCA) were associated with pre-existing cardiovascular (CV) risk factors, CV disease or genetic risk of CV-related traits.

Methods: 1946 GCA patients with clinicodemographic data at GCA presentation were included. Associations between pre-existing CV-related traits (including Polygenic Risk Scores (PRS) for CV traits) and cranial ischaemic complications were tested.

Cross-trait GWAS in COVID-19 and systemic sclerosis reveals novel genes implicated in fibrotic and inflammation pathways.

Objectives: Coronavirus disease 2019 (COVID-19) and SSc share multiple similarities in their clinical manifestations, alterations in immune response and therapeutic options. These resemblances have also been identified in other immune-mediated inflammatory diseases where a common genetic component has been found. Thus, we decided to evaluate for the first time this shared genetic architecture with SSc.

Detection of circulating vaccine-derived poliovirus type 2 (cVDPV2) in wastewater samples: a wake-up call, Finland, Germany, Poland, Spain, the United Kingdom, 2024.

In 2024, circulating vaccine-derived poliovirus type 2 (cVDPV2) was detected in wastewater samples in Finland, Germany, Poland, Spain and the United Kingdom (UK). All strains were genetically linked, but sequence analysis showed high genetic diversity among the strains identified within individual wastewater sites and countries and an unexpected high genetic proximity among isolates from different countries. Taken together these results, with sequential samples having tested positive in various sites, a broader geographic distribution beyond positive sampling sites must be considered.

Comparative efficacy of In-office and walking bleach techniques in whitening of non-vital teeth.

Objectives: This study aimed to compare the efficacy of two non vital whitening techniques, In-office and Walking Bleach, using 35% hydrogen peroxide. The primary research question was to determine which technique achieves greater tooth color improvement.

Materials And Methods: Fifty non-vital anterior teeth with discoloration were randomly assigned to either the In-office (n = 25) or Walking Bleach (n = 25) groups.

COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation.

Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency, marked by hypogammaglobulinemia, poor antibody responses, and increased infection susceptibility. The COVID-19 pandemic provided a unique opportunity to study the effects of prolonged viral infections on the immune responses of CVID patients. Here we use single-cell RNA-seq and spectral flow cytometry of peripheral blood samples before, during, and after SARS-CoV-2 infection showing that COVID-19 CVID patients display a persistent type I interferon signature at convalescence across immune compartments.