Harmonization of anti-nuclear antibody testing (ANA) by indirect immunofluorescence assay: Results from ten years of UK NEQAS external quality assessment.

External quality assurance (EQA) programs play a pivotal role in monitoring laboratory practices, allowing each laboratory to evaluate the consistency of results across different methods as well the ability of individual laboratories to compare and improve over time their own performance. The objective of our study was to analyze the UK NEQAS EQA reports for the "Antibodies to Nuclear and Related Antigens" program from 2013 to 2023, to assess the overall level of harmonization of the responses for anti-nuclear antibody (ANA) testing by indirect immunofluorescence (IIF), in terms of both pattern and titer consensus. As a second aim, we analyzed the impact of the introduction in UK NEQAS EQA reports of the International Consensus on ANA Patterns (ICAP) nomenclature and of digital image recognition on the harmonization of the ANA HEp-2 IIF test.

Leishmaniasis in Humans and Animals: A One Health Approach for Surveillance, Prevention and Control in a Changing World.

Leishmaniasis is classified as a neglected tropical disease (NTD), caused by protozoan parasites of the genus , which are transmitted to humans and other animals through the bite of infected female phlebotomine sandflies. There are three forms of the disease: cutaneous leishmaniasis (CL) manifested by ulcers and scars; systemic or visceral leishmaniasis (VL), which can lead to life-threatening complications if left untreated; and mucocutaneous leishmaniasis (MCL), which can destroy the mucous membranes of the nose, mouth and throat. Human leishmaniasis is endemic in many countries across Africa, Asia, Southern Europe, the Middle East, and Central and South America.

Differential methylation of circulating free DNA assessed through cfMeDiP as a new tool for breast cancer diagnosis and detection of BRCA1/2 mutation.

Background: Recent studies have highlighted the importance of the cell-free DNA (cfDNA) methylation profile in detecting breast cancer (BC) and its different subtypes. We investigated whether plasma cfDNA methylation, using cell-free Methylated DNA Immunoprecipitation and High-Throughput Sequencing (cfMeDIP-seq), may be informative in characterizing breast cancer in patients with BRCA1/2 germline mutations for early cancer detection and response to therapy.

Methods: We enrolled 23 BC patients with germline mutation of BRCA1 and BRCA2 genes, 19 healthy controls without BRCA1/2 mutation, and two healthy individuals who carried BRCA1/2 mutations.

Therapeutic inhibition of isocitrate dehydrogenase mutations in glioma and cholangiocarcinoma: new insights and promises-a narrative review.

Background And Objective: The identification of mutation hot spots in the isocitrate dehydrogenase (IDH) genes is one of the most important cancer genome-wide sequencing discoveries with relevant impact in the treatment of some orphan tumors. These genes were mostly found mutated in lower-grade gliomas (LGGs), acute myeloid leukaemia (AML), myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPNs) and in cholangiocarcinoma. This aberrant genomic condition represents a therapeutic target of great interest in cancer research, especially in AML, given the limitations of currently approved therapies in this field.

Predictive biomarkers of response to tocilizumab in giant cell arteritis (GCA): correlations with imaging activity.

In the recent EULAR recommendations, ultrasound examination is now recommended as a first-line imaging test in all patients with suspected giant cell arteritis (GCA) and the axillary arteries should be included in the standard exam. As an alternative to ultrasound evaluation, cranial and extracranial arteries can be examined using FDG-PET or MRI. The aim of our study was to observe in a retrospective case series whether there is a correlation between biomarkers and imaging activity in a population of patients followed in real life with GCA treated with prednisone (PDN) and tocilizumab (TCZ).

Issues in autoantibody tests used in the classification criteria for autoimmune rheumatic diseases: the laboratory autoimmunologist's perspective.

Classification criteria of autoimmune rheumatic diseases are an important means to define homogenous groups of patients that can be compared across studies for clinical trials and research purposes. The measurement of autoantibodies is a relevant aspect in the definition of classification criteria, with a significant weight in the scores necessary to classify patients with autoimmune rheumatic diseases. The impact of autoantibodies has gradually increased over the years, contributing to the evolution and improvement of the classification criteria.

Efficacy and Safety of Filgotinib in Rheumatoid Arthritis Patients Aged over and under 65 Years (ENANTIA-65).

Background: According to recent data, the age of patients could represent an important risk factor for MACE (major cardiovascular events), cancer, and VTE (venous thromboembolism) during treatment with JAK inhibitors in rheumatoid arthritis. We decided to analyze the population involved in the ReLiFiRa study by identifying two groups of patients: 65 years or more and less than 65 years of age, evaluating the efficacy and tolerability of 200 mg of Filgotinib daily.

Methods: Of the 120 ReLiFiRa patients, 54 were younger than 65 years old and 66 patients were 65 years old or older.

Prevalence of delivery mode in an Italian nationwide cohort with celiac disease: a SIGENP multicenter retrospective study (the CD-deliver-IT).

Background: Studies have indicated an association between cesarean section (CS), especially elective CS, and an increased risk of celiac disease (CD), but the conclusions of other studies are contradictory. The primary aim of this study (CD-deliver-IT) was to evaluate the rate of CS in a large population of CD patients throughout Italy.  METHODS: This national multicenter retrospective study was conducted between December 2020 and November 2021.

Evaluation of a New Multiparametric Microdot Array-Based Immunoassay Panel for Systemic Autoimmune Disease Diagnosis.

Background: The early reliable detection and quantification of autoantibodies play an important role in autoimmune disease diagnosis and in disease-course monitoring. New technologies, such as the multiplexed determination of autoantibodies, have recently been introduced and are being adopted more frequently. The aim of this study was to evaluate the ability of a new microdot array-based multiparametric assay (ZENIT AMiDot CTD panel, A.

Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the Gene.

Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated.

Exosomes multiplex profiling, a promising strategy for early diagnosis of laryngeal cancer.

Background: Exosomes are nanosized vesicles released from all cells into surrounding biofluids, including cancer cells, and represent a very promising direction in terms of minimally invasive approaches to early disease detection. They carry tumor-specific biological contents such as DNA, RNA, proteins, lipids, and sugars, as well as surface molecules that are able to pinpoint the cellular source. By the above criteria, exosomes may be stratified according to the presence of tissue and disease-specific signatures and, due to their stability in such biofluids as plasma and serum, they represent an indispensable source of vital clinical insights from liquid biopsies, even at the earliest stages of cancer.

Corrigendum: Adherence to European society of gastrointestinal endoscopy quality performance measures for upper and lower gastrointestinal endoscopy: a nationwide survey from the Italian society of digestive endoscopy.

[This corrects the article DOI: 10.3389/fmed.2022.

Comparison of ELISA with automated ECLIA for IL-6 determination in COVID-19 patients: An Italian real-life experience.

Objectives: Coronavirus disease 2019 (COVID-19) has a wide spectrum of clinical severity. A cytokine storm is associated with COVID-19 severity. Of these, IL-6 is significantly associated with higher mortality and is also a marker for predicting disease prognosis.

Real-Life Comparison of Four JAK Inhibitors in Rheumatoid Arthritis (ELECTRA- Study).

Real-world evidence of the efficacy and adverse events of JAK inhibitor treatment (Tofacitinib, Baricitinib, Upadacitinib, and Filgotinib) in rheumatoid arthritis is still limited. We studied 115 patients from the Rheumatology Unit of S. Giovanni di Dio Hospital affected by D2T-RA, according to the 2010 EULAR criteria.

Upper Gastrointestinal Endoscopy Quality in Italy: A Nationwide Study.

Background And Aims: International guidelines advise improving esophagogastroduodenoscopy (EGD) quality in Western countries, where gastric cancer is still diagnosed in advanced stages. This nationwide study investigated some indicators for the quality of EGD performed in endoscopic centers in Italy.

Methods: Clinical, endoscopic, and procedural data of consecutive EGDs performed in one month in the participating centers were reviewed and collected in a specific database.

Identification of IncA Plasmid, Harboring Gene, in Goldcoast ST358 and ST62 Isolated in a Hospitalized Patient.

In the present study, we analyzed the genome of two strains TS1 and TS2 from stool and blood cultures, respectively, and one strain of TS3, isolated from a single hospitalized patient with acute myeloid leukemia. The Goldcoast ST358 (O:8 (C2-C3) serogroup), sequenced by the MiSeq Illumina system, showed the presence of β-lactamase genes (, and ), , , , , , , and several incompatibility plasmids. A wide variety of insertion sequences (ISs) and transposon elements were identified.

Guidelines on the diagnosis, treatment and management of visceral and renal arteries aneurysms: a joint assessment by the Italian Societies of Vascular and Endovascular Surgery (SICVE) and Medical and Interventional Radiology (SIRM).

The objective of these Guidelines is to provide recommendations for the classification, indication, treatment and management of patients suffering from aneurysmal pathology of the visceral and renal arteries. The methodology applied was the GRADE-SIGN version, and followed the instructions of the AGREE quality of reporting checklist. Clinical questions, structured according to the PICO (Population, Intervention, Comparator, Outcome) model, were formulated, and systematic literature reviews were carried out according to them.

Older Age, a High Titre of Neutralising Antibodies and Therapy with Conventional DMARDs Are Associated with Protection from Breakthrough Infection in Rheumatoid Arthritis Patients after the Booster Dose of Anti-SARS-CoV-2 Vaccine.

: We aimed to analyse the incidence and severity of breakthrough infections (BIs) in rheumatoid arthritis (RA) patients after a COronaVIrus Disease 2019 (COVID-19) vaccination booster dose. : We enrolled 194 RA patients and 1002 healthcare workers (HCWs) as controls. Clinical, lifestyle and demographic factors were collected at the time of the third dose, and immunogenicity analyses were carried out in a subgroup of patients at 4-6 weeks after the third dose.