Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.
View Article and Find Full Text PDFBackground: Coronary flow capacity (CFC) is a measure that integrates hyperemic myocardial blood flow and myocardial flow reserve to quantify the pathophysiological impact of coronary artery disease on vasodilator capacity. We assessed the prognostic value of CFC derived from Rb positron emission tomography/computed tomography in patients with suspected coronary artery disease and normal myocardial perfusion imaging.
Methods: We studied 1967 patients with suspected coronary artery disease and normal myocardial perfusion at the semiquantitative analysis of stress/rest cardiac Rb positron emission tomography/computed tomography imaging.
Introduction: Single-photon emission computed tomography (SPECT) and positron emission tomography (PET) are non-invasive nuclear medicine techniques that can identify areas of abnormal myocardial perfusion. We assessed the prevalence of cardiovascular risk factors in patients with suspected coronary artery disease (CAD) undergoing SPECT or PET stress myocardial perfusion imaging (MPI). Based on significant risk factors associated with an abnormal MPI, we developed a nomogram for each cohort as a pretest that would be helpful in decision-making for clinicians.
View Article and Find Full Text PDFIn most human tumors, the MAPK pathway is constitutively activated. Since p90RSK is downstream of MAPK, it is often hyperactive and capable of phosphorylating oncogenic substrates. We have previously shown that p90RSK phosphorylates MDM2 at S166, promoting p53 degradation in follicular thyroid carcinomas.
View Article and Find Full Text PDFObjective: The aim of the present review was to highlight gender and sex differences in spondyloarthritis (SpA) to achieve a better awareness of the unmet needs of women with SpA.
Methods: A literature search of PubMed was performed, including manuscripts in English published in the last twenty years, to select and analyze articles related to SpA and sex and gender differences in epidemiology, genetics, immunology, clinical features, and response to treatment.
Results: Women and men with SpA have different disease phenotypes, and this heterogeneity mirrors anatomical, physiological, and hormonal differences, as well as peculiar variability in response to treatment.
Introduction: Bone mineral density (BMD) is reduced in patients with human immunodeficiency virus (HIV) infection. Trabecular bone score (TBS) is an additional feature calculated by dual-energy X ray absorption (DXA) that measures texture inhomogeneity at lumbar spine level, providing an index of bone microarchitecture. However, its clinical value still needs to be fully addressed.
View Article and Find Full Text PDFOver the last decades, the Campania Region in Italy has faced an environmental crisis due to the widespread illegal dumping and burning of waste. This has led to the area being notoriously known as the Land of Fires (Terra dei Fuochi - TdF), sparking serious concerns about public health and threatening the region's agricultural sector, one of its economic mainstays. In such a context, a timely, accurate, and reliable flow of information, aimed both at the population and at stakeholders, is crucial for establishing a proper dialogue between institutions and people, driving the empowerment of citizens.
View Article and Find Full Text PDFMelanomas originating within the urinary tract represent a rare and clinically challenging subset of malignancies. Despite extensive research on cutaneous melanomas, urinary tract melanomas remain relatively unexplored, presenting diagnostic dilemmas and limited treatment consensus. In this comprehensive review, we synthesize current knowledge on the epidemiology, risk factors, clinical presentation, histopathological characteristics, and treatment strategies specific to this disease.
View Article and Find Full Text PDFThe cellularity assessment in bone marrow biopsies (BMBs) for the diagnosis of Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs) is a key diagnostic feature and is usually performed by the human eyes through an optical microscope with consequent inter-observer and intra-observer variability. Thus, the use of an automated tool may reduce variability, improving the uniformity of the evaluation. The aim of this work is to develop an accurate AI-based tool for the automated quantification of cellularity in BMB histology.
View Article and Find Full Text PDFHughes-Stovin syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease without ocular involvement. HSS tends to play by a temporal pattern, starting with thrombosis and followed by formation of pulmonary aneurysms. Since its mortality can reach 25% of cases, early recognition and appropriate therapy represent the major clinical challenges.
View Article and Find Full Text PDFObjective: A monocentric cross-sectional study recruiting rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients residing in the Lazio region, Italy, to assess factors related to diagnostic delay and treatment accessibility.
Methods: Clinical/serological data, including the time between symptom onset, diagnosis, and the beginning of treatment, were collected. Residence, referral to a rheumatologic center, physician who made the diagnosis, and previous misdiagnosis were also evaluated.
Objectives: To develop an intensive training programme for ultrasound (US)-guided synovial tissue (ST) biopsy on knees and wrists in inflammatory arthritis and to assess the learning curve, patient tolerability, sample quality and trainees' expectations.
Methods: Active or remission rheumatoid arthritis patients were enrolled. Nine trainees joined the 4-month programme in a centre experienced in performing US-guided ST biopsies consisting of four sequential phases: (1) observation, (2) performance of guided step-by-step phases, (3) execution of the whole procedure on paired joints (knees or wrists) of the same patient in parallel with the trainer and (4) performance of the procedure autonomously.
Objective: Evaluate spondyloarthritis (SpA) incidence in inflammatory bowel diseases (IBD) between patients treated with biological disease-modifying antirheumatic drugs (bDMARDs) and conventional DMARDs (cDMARDs) and define risk factors associated with SpA development.
Methods: Retrospective cohort study was conducted on patients with Crohn's disease (CD) or ulcerative colitis (UC) and divided into two cohorts: cDMARDs or bDMARDs/targeted synthetic (ts) DMARDs treated patients. Rheumatological assessment was performed in patients presenting musculoskeletal symptoms.
Purpose: We evaluated the impact on cardiovascular outcome of coronary revascularization-induced changes in ischemic total perfusion defect (ITPD) and myocardial flow reserve (MFR) as assessed by Rb positron emission tomography (PET)/computed tomography (CT) imaging.
Methods: The study included 102 patients referred to Rb PET/CT myocardial perfusion imaging before and after coronary revascularization. All patients were followed for the occurrence of cardiovascular events (cardiac death, nonfatal myocardial infarction, repeated revascularization, and heart failure) after the second imaging study.
Eosinophilic esophagitis (EoE) is increasingly diagnosed in patients with dysphagia. Type-2 immunity can induce EoE histopathology via non-IgE-dependent mechanisms, possibly involving IgG4 and IL-10. To elucidate the contribution of this response to EoE pathogenesis, we examined its association with clinical and histologic endpoints in adult EoE patients given a two-food elimination diet.
View Article and Find Full Text PDFIntroduction: Fine needle aspiration cytology (FNAC) combined with rapid on-site evaluation (ROSE) and ancillary techniques is an accurate diagnostic tool for many pathologies. However, in some cases, it may not be sufficient for actionable diagnoses or molecular testing, especially for cases that require large immunohistochemical panels or cases in which histological features are mandatory for the diagnosis. Core needle biopsy (CNB), on the contrary, provides samples that are suitable for histological features and sufficient for all ancillary studies.
View Article and Find Full Text PDFBackground: The prevalence of traditional cardiovascular risk factors shows different age-specific patterns. It is not known whether the prognostic impact of risk factors is similarly age-specific. We evaluated the profiles of cardiovascular risk factors and their prognostic impact on coronary artery disease (CAD) in relation to age.
View Article and Find Full Text PDFBackground: Recent studies have evaluated the upper esophageal sphincter (UES) with high-resolution manometry (HRM) in some esophageal diseases, but not eosinophilic esophagitis (EoE). The aim of our study was to evaluate the function of the UES across EoE, gastroesophageal reflux disease (GERD), functional dysphagia (FD), and the relationship with esophageal symptoms, esophageal body contraction, and esophagogastric junction (EGJ) metrics.
Methods: HRM was performed on 30 EoE, 18 GERD, and 29 FD patients according to the Chicago Classification 3.
Background: Aim of this study was to define the prognostic value of stress myocardial perfusion imaging by cadmium zinc telluride (CZT) single-photon emission computed tomography (SPECT) for prediction of adverse cardiovascular events in patients with known or suspected coronary artery disease (CAD).
Methods And Results: Studies published until November 2022 were identified by database search. We included studies using stress myocardial perfusion imaging by CZT-SPECT to evaluate subjects with known or suspected CAD and providing primary data of adverse cardiovascular events.