Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.

Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.

Feasibility of Comprehensive Genomic Profiling (CGP) in Real-Life Clinical Practice.

In advanced or metastatic settings, Comprehensive Genomic Profiling (CGP) allows the evaluation of thousands of gene alterations with the goal of offering new opportunities for personalized treatment in solid tumors. This study evaluated the CGP in a real-life cohort of 184 patients enrolled in a prospective clinical trial. CGP data were compared with the routine molecular testing strategy adopted in-house.

DOG-1 positive primary acinic cell carcinoma of the lung and investigation of molecular status.

Primary acinic cell carcinoma (ACC) of the lung is an extremely rare neoplasm that more often arises near to a right bronchus. It is characterized by two populations of clear and dark eosinophilic cells, arranged in a glandular acinar pattern. Mitosis are rare and tumor cells show small and eccentric nuclei.

A decade of insertable cardiac monitors with remote monitoring in pediatric patients.

Background: Remote monitoring-enabled insertable cardiac monitors (ICMs) are useful tools for arrhythmias and symptom management. This study sought to evaluate the outcome of ICM implantation in a large, heterogeneous cohort of pediatric and young adult patients.

Methods: Single centre, retrospective analysis of patients who underwent ICM implantation in 2010-2019.

Next generation diagnostic algorithm in non-small cell lung cancer predictive molecular pathology: The KWAY Italian multicenter cost evaluation study.

Aims: The KWAY project aims to investigate the economic sustainability of the up-front NGS technologies adoption in the analysis of clinically relevant molecular alterations in NSCLC patients.

Methods: The diagnostic workflow and the related sustained costs of five Italian referral centers were assessed in four different evolving scenarios were analyzed. For each scenario, two alternative testing strategies were evaluated: the Maximized Standard strategy and the Maximized NGS strategy.

Clinical characteristics and risk of arrhythmic events in patients younger than 12 years diagnosed with Brugada syndrome.

Background: Brugada syndrome (BrS) is an inheritable disease with an increased risk of sudden cardiac death. Although several score systems have been proposed, the management of children with BrS has been inconsistently described.

Objective: The purpose of this study was to identify the characteristics, outcome, and risk factors associated with cardiovascular and arrhythmic events (AEs) in children younger than 12 years with BrS.

Fragile X mental retardation protein in intrahepatic cholangiocarcinoma: regulating the cancer cell behavior plasticity at the leading edge.

Intrahepatic cholangiocarcinoma (iCCA) is a rare malignancy of the intrahepatic biliary tract with a very poor prognosis. Although some clinicopathological parameters can be prognostic factors for iCCA, the molecular prognostic markers and potential mechanisms of iCCA have not been well investigated. Here, we report that the Fragile X mental retardation protein (FMRP), a RNA binding protein functionally absent in patients with the Fragile X syndrome (FXS) and also involved in several types of cancers, is overexpressed in human iCCA and its expression is significantly increased in iCCA metastatic tissues.

Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?

Aims: The aims of this study are to evaluate the progressive involvement of the cardiac conduction system in the Kearn-Sayre syndrome (KSS) and to establish criteria for the prevention of episodes of syncope or sudden cardiac death.

Methods And Results: This is a prospective monocentric study including KSS patients, with diagnosis based on clinical manifestations, muscle biopsy, and genetic tests, before the age of 18. All patients underwent cardiac screening examination with 12-lead electrocardiogram (ECG), 24-h Holter monitoring, and pacemaker (PM) interrogation twice a year.

A Pathology-Based Combined Model to Identify PAM50 Non-luminal Intrinsic Disease in Hormone Receptor-Positive HER2-Negative Breast Cancer.

In hormone receptor-positive (HR+)/HER2-negative breast cancer, the HER2-enriched and Basal-like intrinsic subtypes are associated with poor outcome, low response to anti-estrogen therapy and high response to chemotherapy. To date, no validated biomarker exists to identify both molecular entities other than gene expression. PAM50 subtyping and immunohistochemical data were obtained from 8 independent studies of 1,416 HR+/HER2-negative early breast tumors.

Histologic transformation to small-cell lung cancer following gefitinib and radiotherapy in a patient with pulmonary adenocarcinoma.

Introduction: Targeted therapies against epidermal growth factor receptor (EGFR) have revolutionized the treatment of a subset of lung adenocarcinomas that have EGFR-activating mutations; however, all patients treated with EGFR tyrosine kinase inhibitors (TKIs) ultimately develop resistance. Histologic transformation of EGFR-mutant adenocarcinoma to small cell lung cancer (SCLC) is a resistance mechanism rarely reported in the literature.

Case Presentation: We describe the case of a woman with metastatic lung cancer adenocarcinoma with mutated EGFR with an initial response to gefitinib and radiation therapy, who progressed after 18 months due to the development of a resistance mechanism.

Use of a Pediatric Syncope Unit Improves Diagnosis and Lowers Costs: A Hospital-Based Experience.

Objectives: To assess the effect of a dedicated pediatric syncope unit on the diagnostic and therapeutic management of children with suspected syncope. We also evaluated the effectiveness of the pediatric syncope unit model in decreasing unnecessary tests and hospitalizations, minimizing social costs, and improving diagnostic yield.

Study Design: This single-center cohort observational, prospective study enrolled 2278 consecutive children referred to Bambino Gesù Children's Hospital from 2012 to 2017.

Reelin expression in human liver of patients with chronic hepatitis C infection.

Reelin is a secreted extracellular glycoprotein that plays a critical role during brain development. Several studies have described Reelin expression in hepatic stellate cells of the human liver. In order to investigate the possible role of Reelin in the process of hepatic fibrogenesis, in this study we investigated Reelin expression in the liver tissue of patients infected with the Hepatitis C Virus (HCV).

Radiofrequency catheter ablation of left-sided accessory pathways in children using a new fluoroscopy integrated 3D-mapping system.

Introduction: Advances in 3D electroanatomic-mapping technologies have resulted in a safe and effective profile of radiofrequency (RF) catheter ablation. The aim of this study was to evaluate a different catheter ablation approach in patients with left-sided accessory pathways (APs).

Methods And Results: From January 2015 to December 2015, 30 patients (median age 11 years, median weight 45 kg) with manifest or concealed left-sided APs underwent RF catheter ablation with a new protocol.

HER2 Status in Gastric Cancer: Comparison between Primary and Distant Metastatic Disease.

HER2 (human epidermal growth factor receptor-2) assessment in histological samples of gastric cancer is essential to determine which patients might benefit from trastuzumab therapy. HER2 is often evaluated in primary tumor even if trastuzumab therapy is used to treat metastatic disease. However, the exact relationship in terms of HER2 status between primary and metastatic tumors has not been fully clarified.

Miniaturized Implantable Loop Recorder in Small Patients: An Effective Approach to the Evaluation of Subjects at Risk of Sudden Death.

Background: The etiological diagnosis of syncope and/or palpitations in children is often challenging. However, when noninvasive conventional examinations are inconclusive, the subcutaneous miniaturized implantable loop recorder (ILR) is recommended. The aim of our study was to evaluate the efficacy of miniaturized cardiac implantable devices in the early diagnosis of arrhythmias in children ≤6 years.

Comparison of cryoablation with 3D mapping versus conventional mapping for the treatment of atrioventricular re-entrant tachycardia and right-sided paraseptal accessory pathways.

Unlabelled: Aim Transcatheter cryoablation is a well-established technique for the treatment of atrioventricular nodal re-entry tachycardia and atrioventricular re-entry tachycardia in children. Fluoroscopy or three-dimensional mapping systems can be used to perform the ablation procedure. The aim of this study was to compare the success rate of cryoablation procedures for the treatment of right septal accessory pathways and atrioventricular nodal re-entry circuits in children using conventional or three-dimensional mapping and to evaluate whether three-dimensional mapping was associated with reduced patient radiation dose compared with traditional mapping.

Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem.

We describe the case of an asymptomatic girl with sinus bradycardia and short QT interval at birth, junctional bradycardia in infancy requiring single-chamber pacemaker, atrial fibrillation in adolescence, and V141M mutation in the KCNQ1 gene. Atrial fibrillation recurred and became unresponsive to electrical or anti-arrhythmic therapy. During 20 years of follow-up, a progressive evolution from sinus node dysfunction to low-rate atrial fibrillation was observed.

Results of remote follow-up and monitoring in young patients with cardiac implantable electronic devices.

Background: Remote monitoring is increasingly used in the follow-up of patients with cardiac implantable electronic devices. Data on paediatric populations are still lacking. The aim of our study was to follow-up young patients both in-hospital and remotely to enhance device surveillance.

First report of image integration of cine-angiography with 3D electro-anatomical mapping of the right ventricle in postoperative tetralogy of Fallot.

Ventricular tachycardia and, more rarely, sudden cardiac death are potential complications affecting the long-term outcome after Tetralogy of Fallot (ToF) repair. Intraventricular septal scar, fibro-fatty substitution around infundibular resection and patchy myocardial fibrosis may provide anatomical substrates of abnormal depolarization and repolarization causing reentrant ventricular arrhythmias. Recently, three-dimensional electro-anatomical mapping (3D EAM) has allowed to investigate the electro-anatomical status of the right ventricle.

Ventricular pre-excitation: symptomatic and asymptomatic children have the same potential risk of sudden cardiac death.

Aims: Children and adolescents with ventricular pre-excitation (VPE) are at increased risk for sudden cardiac death (SCD). Although antiarrhythmic therapy and catheter ablation are well established temporary or definitive treatments for patients with Wolff-Parkinson-White (WPW) syndrome, the optimal management of children with asymptomatic VPE remains to be clearly defined. On the basis of the most recent guidelines and recommendations, the aim of this study was to determine the electrophysiological characteristics of young patients with VPE and WPW syndrome to assess and compare their potential risk of SCD.

Evaluation of microRNA-10b prognostic significance in a prospective cohort of breast cancer patients.

Background: MicroRNA-10b (miR-10b) has a prominent role in regulating tumor invasion and metastasis by targeting the HOXD10 transcriptional repressor and has been found up-regulated in several tumor types.

Methods: We evaluated the expression of miR-10b in paired tumor and normal specimens obtained from a prospective cohort of breast cancer patients with at least 36 months follow-up enrolled according to the REMARK guidelines (n = 150). RNA quality was measured and only samples with RNA Integrity Number (RIN) ≥7.

Cryoablation of AVNRT in children and adolescents: early intervention leads to a better outcome.

Introduction: Currently, transcatheter cryoablation is a well-established technique for the treatment of atrioventricular nodal reentry tachycardia (AVNRT) in children. In the past decade, many studies have focused on identifying factors that may affect acute and long-term outcome, but none has been shown to be strongly predictive of treatment success. The aim of our study was to determine whether patient age and cryoablation method correlate with acute and long-term success.