Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.

Background: Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional burden for the victims' families and society. Comprehensive investigations are essential to uncover its elusive causes and enable cascade family screening. This study aimed to enhance the identification of likely causative variants in juvenile SCD cases (age ≤ 50 years), particularly when autopsy findings are inconclusive.

Low HDL cholesterol and the eNOS Glu298Asp polymorphism are associated with inducible myocardial ischemia in patients with suspected stable coronary artery disease.

Background: The endothelial nitric oxide synthase (eNOS) gene deficiency is known to cause impaired coronary vasodilating capability in animal models. In the general clinical population, the eNOS gene polymorphisms, able to affect eNOS activity, were associated with cardiometabolic risk features and prevalence of coronary artery disease (CAD).

Aim: To investigate the association of eNOS Glu298Asp gene polymorphism, cardiometabolic profile, obstructive CAD and inducible myocardial ischemia in patients with suspected stable CAD.

Endocardial repolarization dispersion in BrS: A novel automatic algorithm for mapping activation recovery interval.

Introduction: Repolarization dispersion in the right ventricular outflow tract (RVOT) contributes to the type-1 electrocardiographic (ECG) phenotype of Brugada syndrome (BrS), while data on the significance and feasibility of mapping repolarization dispersion in BrS patients are scarce. Moreover, the role of endocardial repolarization dispersion in BrS is poorly investigated. We aimed to assess endocardial repolarization patterns through an automated calculation of activation recovery interval (ARI) estimated on unipolar electrograms (UEGs) in spontaneous type-1 BrS patients and controls; we also investigated the relation between ARI and right ventricle activation time (RVAT), and T-wave peak-to-end interval (Tpe) in BrS patients.

Effects of pirfenidone on scar size and ventricular remodeling after myocardial infarction: a preclinical study.

Background: An intense fibrotic response after myocardial infarction (MI) may lead to scar expansion and left ventricular (LV) remodeling. We investigated the effects of the antifibrotic drug pirfenidone in this setting.

Methods: Male Wistar rats were randomized to: sham procedure (n = 13), reperfused MI-induced by ligating the left anterior descending artery (LAD) for 45 min (n = 17), reperfused MI plus standard therapy (aspirin, angiotensin-converting enzyme inhibitor, beta blocker, and mineralocorticoid receptor antagonist) (n = 17), reperfused MI plus pirfenidone alone (n = 17), or reperfused MI plus standard therapy and pirfenidone (n = 17).

Fate of primary determinate and indeterminate target vessel endoleaks after fenestrated-branched endovascular aortic repair.

Objective: The aim of this study was to investigate the outcomes of primary determinate and indeterminate target vessel endoleaks (TVELs) after fenestrated-branched endovascular aortic repair (F-BEVAR).

Methods: We conducted a single-center retrospective study (2014-2023) on F-BEVAR for thoracoabdominal (TAAAs) or pararenal aortic aneurysms (PRAAs). TVELs were classified as "primary" if present at the first postoperative computed tomography angiogram.

50 shades of lockdown: sex workers' hidden world during COVID pandemic.

Background: The COVID-19 pandemic had a huge impact on psychological health and socioeconomic structures. The consequences of COVID-19 on the physical, psychological, and social spheres have been extensively studied, except for aspects concerning sexuality and sex workers, in terms of physical, social and economic impact, but also as a possible cause for viral transmission.

Methods: With the intention of counteracting the lack of research, from September 2020 to August 2022, we distributed an anonymous questionnaire to Sex Workers' associations aimed at investigating the impact of the pandemics on sex workers.

Echocardiographic screening in pediatric asymptomatic or paucisymptomatic coronavirus disease 2019 outpatients: is it a useful test or an excess of zeal?

Introduction: Data regarding echocardiographic findings during follow-up of asymptomatic or pauci-symptomatic coronavirus disease 2019 (COVID-19) are scarce in pediatric patients. The aim of the present study is to assess post-COVID-19 sequelae through echocardiography in children who have experienced mild SARS-CoV-2.

Methods: This single-center, retrospective, observational study enrolled a cohort of 133 pediatric outpatients, born between 2005 and 2022, with a history of asymptomatic or paucisymptomatic SARS-CoV-2 infection, who underwent transthoracic echocardiographic (TTE) evaluation at an outpatient pediatric clinic in Northern Italy.

Information and Training on the Use of Telemedicine in Pediatric Population: Consensus Document of the Italian Society of Telemedicine (SIT), of the Italian Society of Preventive and Social Pediatrics (SIPPS), of the Italian Society of Pediatric Primary Care (SICuPP), of the Italian Federation of Pediatric Doctors (FIMP), and of the Syndicate of Family Pediatrician Doctors (SIMPeF).

Telemedicine has entered the daily lives of doctors, although the digital skills of healthcare professionals still remain a goal to be achieved. For the purpose of a large-scale development of telemedicine, it is necessary to create trust in the services it can offer and to favor their acceptance by healthcare professionals and patients. In this context, information for the patient regarding the use of telemedicine, the benefits that can be derived from it, and the training of healthcare professionals and patients for the use of new technologies are fundamental aspects.

Use of Telemedicine Healthcare Systems in Children and Adolescents with Chronic Disease or in Transition Stages of Life: Consensus Document of the Italian Society of Telemedicine (SIT), of the Italian Society of Preventive and Social Pediatrics (SIPPS), of the Italian Society of Pediatric Primary Care (SICuPP), of the Italian Federation of Pediatric Doctors (FIMP) and of the Syndicate of Family Pediatrician Doctors (SIMPeF).

Telemedicine is considered an excellent tool to support the daily and traditional practice of the health profession, especially when referring to the care and management of chronic patients. In a panorama in which chronic pathologies with childhood onset are constantly increasing and the improvement of treatments has allowed survival for them into adulthood, telemedicine and remote assistance are today considered effective and convenient solutions both for the chronic patient, who thus receives personalized and timely assistance, and for the doctors, who reduce the need for direct intervention, hospitalizations and consequent management costs. This Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, has the objectives to propose an organizational model based on the relationships between the actors who participate in the provision of a telemedicine service aimed at minors with chronic pathologies, identifying specific project links between the areas of telemedicine in the developmental age from the first 1000 days of life to the age adult.

Use of Telemedicine Healthcare Systems in Pediatric Assistance at Territorial Level: Consensus Document of the Italian Society of Telemedicine (SIT), of the Italian Society of Preventive and Social Pediatrics (SIPPS), of the Italian Society of Pediatric Primary Care (SICuPP), of the Italian Federation of Pediatric Doctors (FIMP) and of the Syndicate of Family Pediatrician Doctors (SIMPeF).

Technological innovation can contribute to a reorganization of healthcare, particularly by supporting the shift in the focus of care from the hospital to the territory, through innovative citizen-centered models, and facilitating access to services in the territory. Health and social care delivery modalities, enabled by telemedicine, are crucial in this regard. The objective of this Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, is to define a standard for its use at the territorial level in various declinations in the pediatric field; this paper also identifies priority areas for its application and the types of services that most require intervention and investment.

3D In Vitro Blood-Brain-Barrier Model for Investigating Barrier Insults.

Blood-brain-barrier (BBB) disruption has been associated with a variety of central-nervous-system diseases. In vitro BBB models enable to investigate how the barrier reacts to external injury events, commonly referred to as insults. Here, a human-cell-based BBB platform with integrated, transparent electrodes to monitor barrier tightness in real time at high resolution is presented.

Microphysiological Drug-Testing Platform for Identifying Responses to Prodrug Treatment in Primary Leukemia.

Despite increasing survival rates of pediatric leukemia patients over the past decades, the outcome of some leukemia subtypes has remained dismal. Drug sensitivity and resistance testing on patient-derived leukemia samples provide important information to tailor treatments for high-risk patients. However, currently used well-based drug screening platforms have limitations in predicting the effects of prodrugs, a class of therapeutics that require metabolic activation to become effective.

[A sub-merged arrhythmia... and an up-emerged female swimmer. A case of atrioventricular nodal reentry tachycardia in a young female swimmer surfacing from dynamic apnea].

The irrefutable benefits of physical activity as a tool for the prevention and treatment of several clinical conditions, including cardiovascular diseases, are nowadays widely recognized. However, physical exercise may trigger adverse events in subjects with underlying heart disease, often undiagnosed and asymptomatic. It is fundamental to consider that various sports disciplines have peculiar and specific physiological and metabolic adaptations, and it is essential to consider the individual profile of the subject, including gender.

SMG-6 mRNA cleavage stalls ribosomes near premature stop codons in vivo.

Nonsense-mediated mRNA decay (NMD) protects cells from the toxic and potentially dominant effects of truncated proteins. Targeting of mRNAs with early stop codons is mediated by the ribosome and spatiotemporally aligned with translation termination. Previously we identified a novel NMD intermediate: ribosomes stalled on cleaved stop codons, raising the possibility that NMD begins even prior to ribosome removal from the stop codon.

Impedance Imaging of Cells and Tissues: Design and Applications.

Due to their label-free and noninvasive nature, impedance measurements have attracted increasing interest in biological research. Advances in microfabrication and integrated-circuit technology have opened a route to using large-scale microelectrode arrays for real-time, high-spatiotemporal-resolution impedance measurements of biological samples. In this review, we discuss different methods and applications of measuring impedance for cell and tissue analysis with a focus on impedance imaging with microelectrode arrays in applications.

Real-time and automated monitoring of antischistosomal drug activity profiles for screening of compound libraries.

Schistosomiasis is a neglected tropical disease that affects over 200 million people annually. As the antischistosomal drug pipeline is currently empty, repurposing of compound libraries has become a source for accelerating drug development, which demands the implementation of high-throughput and efficient screening strategies. Here, we present a parallelized impedance-based platform for continuous and automated viability evaluation of schistosomula in 128 microwells during 72 h to identify antischistosomal hits .

Modeling and measuring glucose diffusion and consumption by colorectal cancer spheroids in hanging drops using integrated biosensors.

As 3D in vitro tissue models become more pervasive, their built-in nutrient, metabolite, compound, and waste gradients increase biological relevance at the cost of analysis simplicity. Investigating these gradients and the resulting metabolic heterogeneity requires invasive and time-consuming methods. An alternative is using electrochemical biosensors and measuring concentrations around the tissue model to obtain size-dependent metabolism data.

A model for DHX15 mediated disassembly of A-complex spliceosomes.

A critical step of pre-mRNA splicing is the recruitment of U2 snRNP to the branch point sequence of an intron. U2 snRNP conformation changes extensively during branch helix formation, and several RNA-dependent ATPases are implicated in the process. However, the molecular mechanisms involved remain to be fully dissected.

Updated Recommendations on Cardiovascular Prevention in 2022: An Executive Document of the Italian Society of Cardiovascular Prevention.

This executive document reflects and updates the key points of a Consensus document on Cardiovascular (CV) Prevention realized through the contribution of a number of Italian Scientific Societies and coordinated by the Italian Society of Cardiovascular Prevention (SIPREC). The aim of this executive document is to analyze and discuss the new recommendations introduced by international guidelines for the management of major CV risk factors, such as hypertension, dyslipidemias and type 2 diabetes, consisting in the identification of lower therapeutic targets, in the promotion of combination fixed drug therapies and in the introduction in routine clinical practice of new effective pharmacological classes. Moreover, the document highlights the importance of effective CV prevention strategies during the the coronavirus disease 2019 (COVID-19) outbreak which has dramatically changed the priorities and the use of available resources by the national healthcare systems and have caused a reduction of programmed follow-up visits and procedures and even of hospital admissions for severe acute pathologies.