Ten-year update of HOBOE phase III trial comparing triptorelin plus either tamoxifen or letrozole or zoledronic acid + letrozole in premenopausal hormone receptor-positive early breast cancer patients.

Background: The Hormonal Bone Effects (HOBOE) study tested whether adjuvant triptorelin plus either letrozole (L) or zoledronic acid (Z) plus L (ZL) was more effective than tamoxifen (T) in premenopausal patients with hormone receptor-positive (HR+) early breast cancer (BC). Here we report the long-term follow-up analysis.

Patients And Methods: HOBOE (ClinicalTrials.

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.

Stroke thrombectomy in the elderly: A propensity score matched study on a nationwide real-world registry.

Introduction: Data on safety and efficacy of endovascular thrombectomy (EVT) for acute ischemic stroke in older patients are limited and controversial, and people aged 80 or older were under-represented in randomized trials. Our aim was to assess EVT effect for ischemic stroke patients aged ⩾80 at a nationwide level.

Patients And Methods: The cohort included stroke patients undergoing EVT from the Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS).

Differentiating sensor changes in a composite heart failure ICD monitoring index: clinical correlates and implications.

Background: The HeartLogic algorithm (Boston Scientific, St Paul, MN) integrates data from implantable cardioverter-defibrillator (ICD) sensors to predict heart failure (HF) decompensation: first (S1) and third (S3) heart sounds, intrathoracic impedance, respiration rate, ratio of respiration rate to tidal volume (RSBI), and night heart rate.

Objective: This study assessed the relative changes in ICD sensors at the onset of HeartLogic alerts, their association with patient characteristics, and outcomes.

Methods: The study included 568 patients with HF carrying ICDs (CRT-D, n = 410) across 26 centers, with a median follow-up of 26 months.

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).

Safety and efficacy of single antiplatelet therapy in a large cohort of patients treated with sirolimus-coated balloon: Post hoc analysis from the prospective EASTBOURNE registry.

Background: Drug coated balloons (DCB) are potentially less thrombogenic than drug eluting stents (DES).

Aims: To explore the safety and the feasibility of single antiplatelet therapy in percutaneous coronary intervention with sirolimus-coated balloons.

Methods: The All-comers Sirolimus-coated Balloon European Registry (EASTBOURNE) is a prospective investigator-driven registry assessing the performance of a novel sirolimus-coated balloon (SCB) in a real-world population.

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.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells.

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.

Effects of Emergent Carotid Stenting Performed before or after Mechanical Thrombectomy in the Endovascular Management of Patients with Tandem Lesions: A Multicenter Retrospective Matched Analysis.

Background And Purpose: Mechanical thrombectomy (MT) along with emergent carotid stent placement (eCAS) has been suggested to have a greater benefit in patients with tandem lesions (TL), compared with other strategies of treatment. Nonetheless, there is no agreement on whether the intracranial occlusion should be treated before the cervical ICA lesion, or vice versa. In this retrospective multicenter study, we sought to compare clinical and procedural outcomes of the 2 different treatment approaches in patients with TL.

AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges.

The co-occurrence of genetic myopathies with myasthenia gravis (MG) is extremely rare, however a few studies have been reported. We aim to explore the link between genetically inherited muscle disorders and immune-mediated neuromuscular junction conditions, taking into account the diagnostic and therapeutic implications posed by these combined conditions. We searched all English medical papers registered in Web of Knowledge, PubMed, Google Scholar, and Science Direct between January 1987 concerning the association between muscular dystrophies (MD) and MG, also adding three new cases to the series reported so far.

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.