Evolution of autoimmune diagnostics over the past 10 years: lessons learned from the UK NEQAS external quality assessment EQA programs.

Objectives: External quality assessment (EQA) programs play a pivotal role in harmonizing laboratory practices, offering users a benchmark system to evaluate their own performance and identify areas requiring improvement. The objective of this study was to go through and analyze the UK NEQAS "Immunology, Immunochemistry and Allergy" EQA reports between 2012 and 2021 to assess the overall level of harmonization in autoimmune diagnostics and identify areas requiring improvement for future actions.

Methods: The EQA programs reviewed included anti-nuclear (ANA), anti-dsDNA, anti-centromere, anti-extractable nuclear antigen (ENA), anti-phospholipids, anti-neutrophil cytoplasm (ANCA), anti-proteinase 3 (PR3), anti-myeloperoxidase (MPO), anti-glomerular basement membrane (GBM), rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA), mitochondrial (AMA), liver-kidney-microsomal (LKM), smooth muscle (ASMA), APCA, and celiac disease antibodies.

Kappa Free Light Chains in Multiple Sclerosis as a Marker of Intrathecal Humoral Response: A Sex-Disaggregated Study.

Background: Kappa free light chains (KFLCs) are emerging as promising biomarkers for intrathecal B cell activity for diagnosing multiple sclerosis (MS) through cerebrospinal fluid (CSF) analysis. In this study, we evaluated the ability of KFLC formulas to identify the presence of MS and their agreement with the 'gold standard' of CSF IgG oligoclonal bands (OCBs).

Methods: A total of 233 patients were included in this study: 149, comprising 43 males and 106 females, had MS, and the remainder, 40 males and 44 females, had other neurological diseases (ONDs).

Variations of blood D-serine and D-aspartate homeostasis track psychosis stages.

Schizophrenia (SCZ) is a severe psychotic disorder characterized by a disruption in glutamatergic NMDA receptor (NMDAR)-mediated neurotransmission. Compelling evidence has revealed that NMDAR activation is not limited to L-glutamate, L-aspartate, and glycine since other free amino acids (AAs) in the atypical D-configuration, such as D-aspartate and D-serine, also modulate this class of glutamatergic receptors. Although dysregulation of AAs modulating NMDARs has been previously reported in SCZ, it remains unclear whether distinct variations of these biomolecules occur during illness progression from at-risk premorbid to clinically manifest stage.

Seasonal patterns of myositis-specific and myositis-associated autoantibodies in Italy: Seasonal patterns of myositis autoantibodies.

Objective: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic autoimmune disorders affecting skeletal muscles but also other organs. There are different forms of IIM, each with peculiar clinical manifestations and prognosis. Accordingly, several autoantibodies have been described in IIM, with different prevalence in the different forms of the disease.

Exploratory study of extracellular matrix biomarkers for non-invasive liver fibrosis staging: A machine learning approach with XGBoost and explainable AI.

Background: Novel circulating markers for the non-invasive staging of chronic liver disease (CLD) are in high demand. Although underutilized, extracellular matrix (ECM) components offer significant diagnostic potential. This study evaluates ECM-related markers in hepatitis C virus (HCV)-positive patients across varying fibrosis stages.

Challenges of preanalytical variables in erythrocyte sedimentation rate: a CUBE 30 touch evaluation.

The erythrocyte sedimentation rate (ESR) is a widely used diagnostic test, influenced by all physiological and pathological conditions that can bias blood rheology by interfering factors. This study aimed to evaluate the performance of the CUBE 30 touch ESR analyzer in samples with preanalytical variables, as lipemia, hemolysis, and icterus or in presence of fibrinogen., Moreover we focused to define the maximum time limits to ensure a reliable ESR measure.

Serum levels of free light chains and syndecan-1 in patients with rheumatoid arthritis and systemic lupus erythematosus.

Objectives: Systemic autoimmune rheumatic diseases (SARDs) are characterized by chronic inflammation. Reliable biomarkers are crucial for diagnosis, monitoring disease progression and therapeutic responses. This study explores serum Syndecan-1 (SDC-1) as a biomarker for these conditions and its relationship with free light chain (FLC) levels.

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced expression of the survival motor neuron (SMN) protein. In addition to motor neuron survival, SMN deficiency affects the integrity and function of afferent synapses that provide glutamatergic excitatory drive essential for motor neuron firing and muscle contraction. However, it is unknown whether deficits in the metabolism of excitatory amino acids and their precursors contribute to neuronal dysfunction in SMA.

An overview of hidden food allergens: need for change to the priority food allergen lists?

Many food allergens not actually included in the European priority list of allergenic foods have the potential to cause severe allergic reactions and could escape correct identification and behave as "hidden allergens". Moreover, the adoption in recent years of novel diets based on plant products and new sustainable foods or the use of specific food additives have contributed to the onset of new emerging allergens of public health importance. The knowledge of hidden allergens is important both for physicians and for patients to improve the prevention, diagnosis and treatment of food allergies, in order to decrease eventual improper diagnosis of idiopathic anaphylaxis.

Macro-FSH is a rare cause of inappropriately high FSH concentrations.

Summary: Assessment of hormone concentrations can be subjected to laboratory pitfalls. Macro-hormones are hormone-autoantibody complexes which are cleared slowly from circulation and cause a false elevation in hormones' concentrations. Macro-prolactin and macro-thyroid-stimulating hormone (TSH) are most frequently encountered while macro-follicle-stimulating hormone (FSH) has been rarely reported.

Efficacy and safety of a step-down regimen of low dosage of glucocorticoids combined with early administration of synthetic or biologic immunosuppressants in anti-synthetase syndrome: A pilot study.

Introduction: Anti-synthetase syndrome (ASS) is a rare autoimmune disease characterized by the presence of anti-aminoacyl-transfer-RNA synthetase antibodies (ARS) and the involvement of muscles, skin, joints, and lungs. Despite increasing interest and evidence, optimal clinical management remains unclear due to a lack of randomized control trials. This study aims to evaluate the efficacy and safety of a treatment regimen involving early co-administration of glucocorticoids and immunosuppressants, with rapid prednisone tapering.

Performance Evaluation of Automated Erythrocyte Sedimentation Rate (ESR) Analyzers in a Multicentric Study.

Background: Erythrocyte Sedimentation Rate (ESR) is an easy test used to diagnose and monitor inflammatory and infectious diseases. The aim of this study was the evaluation of the performance of three ESR automated analyzers, VES-MATIC 5, CUBE 30 TOUCH, and MINI-CUBE, involving four Italian polyclinics in Rome, Siena, Como, and Arezzo, as well as inter-site variability assessment to detect possible device-dependent and operator-dependent influences.

Methods: Accuracy analysis was carried out by analyzing the same samples with all three instruments and comparing them with the Westergren method.

Validation of monocyte CD169 expression as a valuable rapid diagnostic marker of SARS-CoV-2 and other acute viral infections.

Objectives: Acute infectious diseases are some of the most common reasons for receiving medical care, and analysis of the host immune response is an attractive approach for their diagnosis. The present study aimed to evaluate the potential usefulness of CD169 expression on peripheral monocytes (mCD169) as a marker of viral-associated host immune response.

Methods: In a large mono-institutional cohort of 4,025 patients evaluated for SARS-CoV-2 (CoV2) and other viral infections, mCD169 analysis was performed by rapid flow cytometry assay.

Evaluation of Known Markers of Ferroptosis in Semen of Patients with Different Reproductive Pathologies and Fertile Men.

This study aims to investigate the role of ferroptosis, an iron-dependent form of regulated cell death, in male infertility. The motivation behind this research stems from the increasing recognition of oxidative stress and iron metabolism dysregulation as critical factors in male reproductive health. In this study, 28 infertile patients (grouped by the presence of urogenital infections or varicocele) and 19 fertile men were selected.

The Case of Dolutegravir Plus Darunavir Antiretroviral Regimens: Is It Always Useful to Double the Drug Doses? A Short Communication.

Background: Antiretroviral drug combinations affect dolutegravir trough concentrations. Here, the authors focused on dolutegravir plus booster darunavir antiretroviral regimens to investigate the effect of the booster and/or timing of drug administration on dolutegravir and darunavir plasma trough concentrations.

Methods: This retrospective observational study included consecutive people with HIV (PWH) receiving dolutegravir plus booster darunavir antiretroviral regimens for at least 3 months, with at least one assessment of dolutegravir and darunavir plasma trough concentrations.

A Heuristic Approach to Analysis of the Genetic Susceptibility Profile in Patients Affected by Airway Allergies.

Allergic respiratory diseases such as asthma might be considered multifactorial diseases, having a complex pathogenesis that involves environmental factors and the activation of a large set of immune response pathways and mechanisms. In addition, variations in genetic background seem to play a central role. The method developed for the analysis of the complexities, as association rule mining, nowadays may be applied to different research areas including genetic and biological complexities such as atopic airway diseases to identify complex genetic or biological markers and enlighten new diagnostic and therapeutic targets.

New Biomarkers in Liver Fibrosis: A Pass through the Quicksand?

Chronic liver diseases (CLD) stem from various causes and lead to a gradual progression that ultimately may result in fibrosis and eventually cirrhosis. This process is typically prolonged and asymptomatic, characterized by the complex interplay among various cell types, signaling pathways, extracellular matrix components, and immune responses. With the prevalence of CLD increasing, diagnoses are often delayed, which leads to poor prognoses and in some cases, the need for liver transplants.

Microbiota and plasticity of antigen-presenting ILC3s: impact on antitumor immune response.

Growing evidence highlights the pivotal role of RORγt-innate lymphoid cells (ILCs) in the establishment of antitumor immune response and in enhancing tumor sensitivity to immunotherapy. Noteworthy, type 3 ILCs (ILC3s) have been recently acknowledged as an important class of antigen-presenting cells (APCs) in the context of host-microorganism interactions shaping the adaptive immune response in the intestinal mucosa. Although a broad range of mouse models has led to significant progress in untangling the role of ILC3s as APCs, the outcome of major histocompatibility complex (MHC)-dependent ILC-T cell crosstalk in colorectal cancer (CRC) remains underexplored in human.

Tumor Necrosis Factor-Alpha: Ally and Enemy in Protean Cutaneous Sceneries.

Skin is the forestage for a series of many-sided functions of tumor necrosis factor-alpha (TNF-α), a proinflammatory cytokine with staggering versatility and sizable implications for tissue homeostasis, immune responses, angiogenesis, apoptosis, local and systemic inflammation. An aberrant TNF-α-mediated crosstalk has been linked to the pathogenesis of acute and chronic skin inflammatory diseases, and indeed, TNF-α dysregulation can contribute to the development and progression of psoriasis, vitiligo, local damage following exposition to ultraviolet light radiations, cutaneous lupus erythematosus, and acne vulgaris. Therapies that target TNF-α are conspicuously used in the treatment of different skin disorders, aiming to modulate the in vivo immune functions triggered by many cutaneous cells, including keratinocytes, mast cells, or Langerhans cells, and reduce inflammation taking place within the skin.