De novo DNA methylation induced by circulating extracellular vesicles from acute coronary syndrome patients.

Background And Aims: DNA methylation is associated with gene silencing, but its clinical role in cardiovascular diseases (CVDs) remains to be elucidated. We hypothesized that extracellular vesicles (EVs) may carry epigenetic changes, showing themselves as a potentially valuable non-invasive diagnostic liquid biopsy. We isolated and characterized circulating EVs of acute coronary syndrome (ACS) patients and assessed their role on DNA methylation in epigenetic modifications.

Carriers of Rare Variants Are at High Risk of Life-Threatening COVID-19.

Thrombosis of small and large vessels is reported as a key player in COVID-19 severity. However, host genetic determinants of this susceptibility are still unclear. Congenital Thrombotic Thrombocytopenic Purpura is a severe autosomal recessive disorder characterized by uncleaved ultra-large vWF and thrombotic microangiopathy, frequently triggered by infections.

Physiologic Range of Myocardial Mechano-Energetic Efficiency among Healthy Subjects: Impact of Gender and Age.

Background: Myocardial mechano-energetic efficiency (MEE) is the capability of the left ventricle (LV) to convert the chemical energy obtained from the cardiac oxidative metabolism into mechanical work. The aim of present study was to establish normal non-invasive MEE and MEEi reference values.

Methods: In total, 1168 healthy subjects underwent physical examinations, clinical assessment, and standardized transthoracic echocardiographic (TTE) examination.

David Against Goliath: Direct Comparison of Handheld Bowel Sonography and Magnetic Resonance Enterography for Diagnosis of Crohn's Disease.

Background: Diagnosis of Crohn's disease (CD) requires ileo-colonoscopy (IC) and cross-sectional evaluation. Recently, "echoscopy" has been used effectively in several settings, although data about its use for CD diagnosis are still limited. Our aim was to evaluate the diagnostic accuracy of handheld bowel sonography (HHBS) in comparison with magnetic resonance enterography (MRE) for CD diagnosis.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively.

Towards personalized treatment of T2N0 rectal cancer: A systematic review of long-term oncological outcomes of neoadjuvant therapy followed by local excision.

Background And Aim: Total mesorectal excision (TME) remains the treatment of choice in T2N0 tumors. However, evidence suggest that one-size-fits-all approach is not always beneficial for this group of patients. The aim of this study is to synthesize data on long-term outcomes after neoadjuvant therapy (NAT) followed by local excision (LE) in T2N0 rectal cancer patients in the perspective of a rectal-preserving strategy.

Compassionate Use Program of Ipilimumab and Nivolumab in Intermediate or Poor Risk Metastatic Renal Cell Carcinoma: A Large Multicenter Italian Study.

This is a retrospective analysis on the safety and activity of compassionate Ipilimumab and Nivolumab (IPI-NIVO) administered to patients with metastatic Renal Cell Carcinoma (mRCC) with intermediate or poor International Metastatic RCC Database Consortium (IMDC) score as a first-line regimen. IPI was infused at 1 mg/kg in combination with Nivolumab 3 mg/kg every three weeks for four doses, followed by maintenance Nivolumab (240 or 480 mg flat dose every two or four weeks, respectively) until disease progression or unacceptable toxicity. A total of 324 patients started IPI-NIVO at 86 Italian centers.

The Impact of a Training Intervention on Detection of Patient-Ventilator Asynchronies in Nursing Students.

Background And Aim: Patient-ventilator asynchronies (PVA) are associated to negative outcomes for patients: increased respiratory work, mechanical ventilation time and ICU length of stay, and mortality. Some studies described the positive impact of a training intervention on the knowledge and attitudes of nurses in detecting PVA. The aim of this study was to evaluate the efficacy of a training intervention focused on detection of PVA.

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Purpose: Emerging evidence suggest that infection-dependent hyperactivation of complement system (CS) may worsen COVID-19 outcome. We investigated the role of predicted high impact rare variants - referred as qualifying variants (QVs) - of CS genes in predisposing asymptomatic COVID-19 in elderly individuals, known to be more susceptible to severe disease.

Methods: Exploiting exome sequencing data and 56 CS genes, we performed a gene-based collapsing test between 164 asymptomatic subjects (aged ≥60 years) and 56,885 European individuals from the Genome Aggregation Database.

Prognostic Markers of Ocrelizumab Effectiveness in Multiple Sclerosis: A Real World Observational Multicenter Study.

Pivotal trials showed the effectiveness of the monoclonal antibody ocrelizumab in relapsing and progressive multiple sclerosis (MS). However, data on everyday practice in MS patients and markers of treatment effectiveness are scarce. We aimed to collect real-world data from ocrelizumab-treated MS patients, relapsing-remitting (RR) and progressive MS patients (PMS), including active secondary progressive MS (aSPMS) and primary progressive MS (PPMS) patients, and to explore potential prognostic factors of clinical outcome.

Pelvic Pain in Reproductive Age: US Findings.

Pelvic pain in reproductive age often represents a diagnostic challenge due to the variety of potential causes characterized by overlapping clinical symptoms, including gynecological and other disorders (e.g., entero-colic or urological).

Machine Learning and Regression Analysis to Model the Length of Hospital Stay in Patients with Femur Fracture.

Fractures of the femur are a frequent problem in elderly people, and it has been demonstrated that treating them with a diagnostic-therapeutic-assistance path within 48 h of admission to the hospital reduces complications and shortens the length of the hospital stay (LOS). In this paper, the preoperative data of 1082 patients were used to further extend the previous research and to generate several models that are capable of predicting the overall LOS: First, the LOS, measured in days, was predicted through a regression analysis; then, it was grouped by weeks and was predicted with a classification analysis. The KNIME analytics platform was applied to divide the dataset for a hold-out cross-validation, perform a multiple linear regression and implement machine learning algorithms.

Role of Ultrasound in the Assessment and Differential Diagnosis of Pelvic Pain in Pregnancy.

Pelvic pain (PP) is common in pregnant women and can be caused by several diseases, including obstetrics, gynaecological, gastrointestinal, genitourinary, and vascular disorders. Timely and accurate diagnosis as well as prompt treatment are crucial for the well-being of the mother and foetus. However, these are very challenging.

Common and Uncommon Errors in Emergency Ultrasound.

Errors in emergency ultrasound (US) have been representing an increasing problem in recent years thanks to several unique features related to both the inherent characteristics of the discipline and to the latest developments, which every medical operator should be aware of. Because of the subjective nature of the interpretation of emergency US findings, it is more prone to errors than other diagnostic imaging modalities. The misinterpretation of US images should therefore be considered as a serious risk in diagnosis.

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed.

Dose-Tracking Software: A Retrospective Analysis of Dosimetric Data in CT Procedures.

The increasing use of ionizing radiation in healthcare is causing growing alarm about radiation protection of patients and the doses they receive during procedures. Radiation dose assessment for patients in radiodiagnostic procedures is the subject of interest in view of the recent Italian D.Lgs 31 July 2020, n.

The Technique and Advantages of Contrast-Enhanced Ultrasound in the Diagnosis and Follow-Up of Traumatic Abdomen Solid Organ Injuries.

Trauma is one of the most common causes of death or permanent disability in young people, so a timely diagnostic approach is crucial. In polytrauma patients, CEUS (contrast enhanced ultrasound) has been shown to be more sensitive than US (ultrasound) for the detection of solid organ injuries, improving the identification and grading of traumatic abdominal lesions with levels of sensitivity and specificity similar to those seen with MDCT (multidetector tomography). CEUS is recommended for the diagnostic evaluation of hemodynamically stable patients with isolated blunt moderate-energy abdominal traumas and the diagnostic follow-up of conservatively managed abdominal traumas.

The Use of Ceus Software with No Contrast Media Administration in the Diagnosis of Pneumoperitoneum.

Background: Pneumoperitoneum is defined by the presence of free air in the abdominal cavity; gastrointestinal perforation is an important cause of this pathological condition. In emergency situations, radiology is considered vital in the early detection and identification of the site and cause of the perforation, which is critical for proper surgical planning.

Aim: The aim of our study was to evaluate a new diagnostic US tool, based on the US contrast-specific software generally used during contrast-enhanced US examination (CEUS), without the administration of sonographic contrast media, and to describe the specific imaging features in the detection of free intra-peritoneal air.

PANHER study: a 20-year treatment outcome analysis from a multicentre observational study of HER2-positive advanced breast cancer patients from the real-world setting.

Background: The evolution of therapeutic landscape of human epidermal growth factor receptor-2 (HER2)-positive breast cancer (BC) has led to an unprecedented outcome improvement, even if the optimal sequence strategy is still debated. To address this issue and to provide a picture of the advancement of anti-HER2 treatments, we performed a large, multicenter, retrospective study of HER2-positive BC patients.

Methods: The observational PANHER study included 1,328 HER2-positive advanced BC patients treated with HER2 blocking agents since June 2000 throughout July 2020.