Assessment of choroidal vessels in healthy eyes using 3-dimensional vascular maps and a semi-automated deep learning approach.

To assess the choroidal vessels in healthy eyes using a novel three-dimensional (3D) deep learning approach. In this cross-sectional retrospective study, swept-source OCT 6 × 6 mm scans on Plex Elite 9000 device were obtained. Automated segmentation of the choroidal layer was achieved using a deep-learning ResUNet model along with a volumetric smoothing approach.

First-line immune-based combinations or sunitinib in favorable-risk metastatic renal cell carcinoma: a real-world retrospective comparison from the ARON-1 study.

Introduction: Renal cell carcinoma (RCC) is one of the most common types of urogenital cancer. The introduction of immune-based combinations, including dual immune-checkpoint inhibitors (ICI) or ICI plus tyrosine kinase inhibitors (TKIs), has radically changed the treatment landscape for metastatic RCC, showing varying efficacy across different prognostic groups based on the International Metastatic RCC Database Consortium (IMDC) criteria.

Materials And Methods: This retrospective multicenter study, part of the ARON-1 project, aimed to evaluate the outcomes of favorable-risk metastatic RCC patients treated with immune-based combinations or sunitinib.

Basic Science and Pathogenesis.

Background: We researched the occurrence, neuropathology, and clinical features of spastic paraplegia (SP) associated to dementia in presenilin 1 (PSEN1) Italian patients related to familial Alzheimer's disease (AD).

Methods: We carried out whole exome sequencing in 33 familial AD probands with hereditary spastic paraplegia (HSP) that resulted negative for the identification of pathogenetic variants in known HSP genes. One patient was identified with a DNA variant in PSEN1, and bioinformatic analysis was conducted to characterize its pathogenetic nature.

DNA methylation analysis from oral brushing reveals a field cancerization effect in proliferative verrucous leukoplakia.

Objectives: The aim of the present study was to analyze the methylation status in patients who presented with an Oral Squamous Cell Carcinoma (OSCC) concomitantly with multifocal Proliferative Verrucous Leukoplakia (PVL)(PVL-OSCC).

Methods: Nine patients with OSCC and concomitant PVL lesions were selected. Two brushing samples were collected simultaneously from OSCC and PVL lesions in contralateral mucosa from each patient.

PD-L1 and IFN-γ modulate Non-Small Cell Lung Cancer (NSCLC) cell plasticity associated to immune checkpoint inhibitor (ICI)-mediated hyperprogressive disease (HPD).

Background: Non-Small Cell Lung Cancer (NSCLC) is the leading cause of cancer death worldwide. Although immune checkpoint inhibitors (ICIs) have shown remarkable clinical efficacy, they can also induce a paradoxical cancer acceleration, known as hyperprogressive disease (HPD), whose causative mechanisms are still unclear.

Methods: This study investigated the mechanisms of ICI resistance in an HPD-NSCLC model.

Exploring the competencies of nephrology nurses: A comprehensive scoping review.

Background: Chronic kidney disease (CKD) presents a significant global health challenge. Nephrology nurses, possessing specialized competencies, play an essential role in providing high-quality care to CKD patients.

Aim: This scoping review aims to comprehensively map and synthesize literature on the competencies of nephrology nurses worldwide.

Metastatic sites and clinical outcomes in renal cell carcinoma patients receiving immune-based combinations: the MOUSEION-08 study.

Immune-based combinations have significantly improved the treatment of metastatic renal cell carcinoma (mRCC); however, immunotherapy has reported varying degrees of efficacy across different metastatic sites, with liver and bone metastases traditionally considered more challenging to treat. In MOUSEION-08 study, we aimed to investigate the association between lung, liver, and bone metastases and clinical outcomes such as Overall Survival (OS) and Progression- Free Survival (PFS) in mRCC patients receiving immune-based combinations. The present systematic review and study-level meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA).

Prognostic role of aetiological agent vs. clinical pattern in candidates to lead extraction for cardiac implantable electronic device infections.

Cardiac implantable electronic devices infections (CIEDI) are associated with poor survival despite the improvement in transvenous lead extraction (TLE). Aetiology and systemic involvement are driving factors of clinical outcomes. The aim of this study was to explore their contribute on overall mortality.

Parallel single-cell metabolic analysis and extracellular vesicle profiling reveal vulnerabilities with prognostic significance in acute myeloid leukemia.

Acute myeloid leukemia (AML) is an aggressive disease with a high relapse rate. In this study, we map the metabolic profile of CD34(CD38) AML cells and the extracellular vesicle signatures in circulation from AML patients at diagnosis. CD34 AML cells display high antioxidant glutathione levels and enhanced mitochondrial functionality, both associated with poor clinical outcomes.

Updating Primary Antibiotic Resistance in Helicobacter pylori Strains Isolated in Italy.

Background And Aims: Bacterial resistance toward the most used antibiotics is increasing in Helicobacter pylori (H. pylori) strains worldwide. The emergence of multidrug resistance significantly affects the efficacy of standard therapy regimens.

The 36-week preeclampsia risk by the Fetal Medicine Foundation algorithm is associated with fetal compromise following induction of labor.

Background: Previous studies demonstrated that placental dysfunction leads to intrapartum fetal distress, particularly when an abnormal pattern of angiogenic markers is demonstrated at 36 weeks of gestation. Prediction of intrapartum fetal compromise is particularly important in patients undergoing induction of labor due to different indications for delivery, as this can be a useful in optimizing the method and timing of the induction.

Objective: To examine whether the risk of preeclampsia assessed by the Fetal Medicine Foundation (FMF) algorithm (derived from a combination of maternal risk factors, mean arterial pressure, placental growth factor and soluble fms-like tyrosine kinase-1), associates with the risk of intrapartum fetal compromise requiring cesarean delivery, in a population of singleton pregnancies undergoing labor induction for various indications.

Evaluating the feasibility of modern external beam radiotherapy as an alternative approach to brachytherapy in endometrial cancer treatment: A systematic review.

Purpose: This systematic review aimed to assess the feasibility, safety, and efficacy of using modern external beam radiotherapy (EBRT) techniques, such as intensity-modulated radiotherapy (IMRT), volumetric modulated arc therapy (VMAT), and stereotactic body radiotherapy (SBRT) as alternative approaches to brachytherapy (BRT) in adjuvant treatment of endometrial cancer (EC).

Material And Methods: A systematic review was conducted following PRISMA guidelines. The research question was framed using the PICO method, focusing on patients with EC [P] and comparing modern EBRT techniques (IMRT, VMAT, SBRT) [I] vs.

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

[Subepicardial hematoma: a rare complication after percutaneous coronary intervention].

We report the case of a 78-year-old patient with acute ST-elevation myocardial infarction treated with primary percutaneous coronary intervention (PCI) of the right coronary artery, subsequently found to have a large subepicardial mass. The patient underwent a non-invasive multimodal diagnostic work-up including cardiac computed tomography and cardiac magnetic resonance imaging, which led to the diagnosis of subepicardial hematoma following coronary perforation during primary PCI. Due to clinical stability and absence of active bleeding sources, the patient was managed conservatively with gradual absorption of the mass and favorable prognostic outcome.

Brexucabtagene autoleucel in-vivo expansion and BTKi refractoriness have a negative influence on progression-free survival in mantle cell lymphoma: Results from CART-SIE study.

Brexucabtagene autoleucel (brexu-cel) has revolutionized the treatment of patients affected by mantle cell lymphomas. In this prospective, observational multicentre study, we evaluated 106 patients, with longitudinal brexu-cel kinetics in peripheral blood monitored in 61 of them. Clinical outcomes and toxicities are consistent with previous real-world evidence studies.

Seventeen cases of Mycobacterium marinum infection in Italy: A multicenter retrospective study.

Mycobacterium marinum infection is rare, misrecognized and underdiagnosed but can cause severe clinical pictures, especially if the diagnosis is late and the patient is immunocompromised. Treatment includes long-term antibiotic therapy combined with surgical therapy when necessary. We performed a multicenter retrospective study with data from five Italian hospitals describing the epidemiological, clinical, bacteriological characteristics, and treatment outcome of subjects diagnosed with M.

STK11 mutations correlate with poor prognosis for advanced NSCLC treated with first-line immunotherapy or chemo-immunotherapy according to KRAS, TP53, KEAP1, and SMARCA4 status.

Background: The upfront treatment of non-oncogene-addicted NSCLC relies on immunotherapy alone (ICI) or in combination with chemotherapy (CT-ICI). Genomic aberrations such as KRAS, TP53, KEAP1, SMARCA4, or STK11 may impact survival outcomes.

Methods: We performed an observational study of 145 patients treated with first-line IO or CT-ICI for advanced non-squamous (nsq) NSCLC at our institution tested with an extensive lab-developed NGS panel.

Prognostic factors and impact of management strategies for status epilepticus: The STEPPER study in the Emilia-Romagna region, Italy.

Objective: The STEPPER (Status Epilepticus in Emilia-Romagna) study aimed to investigate the clinical characteristics, prognostic factors, and treatment approaches of status epilepticus (SE) in adults of the Emilia-Romagna region (ERR), Northern Italy.

Methods: STEPPER, an observational, prospective, multicentric cohort study, was conducted across neurology units, emergency departments, and intensive care units of the ERR over 24 months (October 2019-October 2021), encompassing incident cases of SE. Patients were followed up for 30 days.

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics.

Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure. Specific treatment is indicated upon observed or predicted rapid progression. For the latter, risk stratification tools have been developed independently based on either total kidney volume or genotyping as well as clinical variables.

Community-onset pediatric status epilepticus: Barriers to care and outcomes in a real-world setting.

Objective: Status epilepticus (SE) is a neurological emergency in childhood, often leading to neuronal damage and long-term outcomes. The study aims to identify barriers in the pre-hospital and in-hospital management of community-onset pediatric SE and to evaluate the effectiveness of pediatric scores on outcomes prediction.

Methods: This monocentric observational retrospective cohort study included patients treated for community-onset pediatric SE in a tertiary care hospital between 2010 and 2021.