De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Elevated Neutrophil-to-Lymphocyte Ratio Predicts Prognosis in Acute Myocarditis.

Background: Neutrophil-to-lymphocyte ratio (NLR) is an easy-to-use inflammatory biomarker. Baseline NLR is independently associated with incident cardiovascular events and all-cause mortality. However, whether this applies to acute myocarditis (AM) has not been evaluated.

Cardiac amyloidosis: when to suspect and how to confirm.

Diagnosing cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multiorgan involvement requiring interaction among experts in different specialties and subspecialties, lack of a single noninvasive diagnostic tool, and still limited awareness in the medical community. Missing or delaying the diagnosis of CA may profoundly impact on patients' outcomes, as potentially life-saving treatments may be omitted or delayed. The suspicion of CA should arise when "red flags" for this condition are present, together with increased left ventricular wall thickness.

Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.

Importance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.

Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.

Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.

Ascending aortic replacement versus aortic root replacement in patients with type A aortic dissection involving the aortic root.

Background: Extensive surgical resection of the thoracic aorta in patients with type A aortic dissection (TAAD) is thought to reduce the risk of late aortic wall degeneration and the need for repeat aortic operations.

Objectives: We evaluated the early and late outcomes after aortic root replacement and supracoronary ascending aortic replacement in patients with TAAD involving the aortic root.

Design: Retrospective, multicenter cohort study.

Predicting survival in patients with severe heart failure: Risk score validation in the HELP-HF cohort.

Aims: Accurate selection of patients with severe heart failure (HF) who might benefit from advanced therapies is crucial. The present study investigates the performance of the available risk scores aimed at predicting the risk of mortality in patients with severe HF.

Methods And Results: The risk of 1-year mortality was estimated in patients with severe HF enrolled in the HELP-HF cohort according to the MAGGIC, 3-CHF, ADHF/NT-proBNP, and GWTG-HF risk scores, the number of criteria of the 2018 HFA-ESC definition of advanced HF, I NEED HELP markers, domains fulfilled of the 2019 HFA-ESC definition of frailty, the frailty index, and the INTERMACS profile.

Impact of Pre-Treatment Comorbidity Burden on Survival in Patients Receiving Venetoclax Plus Hypomethylating Agents.

Expectation of survival of patients receiving HMA + VEN is influenced by pre-treatment comorbidity burden.

Association between psychophysically measured olfactory dysfunction and mental health status in long COVID patients.

Background: Long COVID frequently presents with persistent olfactory dysfunction (OD), affecting both physical and psychological well-being. This study aims to evaluate the mental health consequences of OD in long COVID patients.

Methodology: A cross-sectional study involved 86 adult patients.

Large clones of Clonal Hematopoiesis affect outcome in Mantle Cell Lymphoma: Results from The FIL MCL0208 Clinical Trial.

Although recent evidence suggests that myeloid clonal hematopoiesis (M-CH) may influence lymphoma clinical outcome, its impact in mantle cell lymphoma (MCL) remains unclear. Here, we report a comprehensive NGS-based analysis of the M-CH mutational landscape at baseline and follow-up in patients enrolled in the Fondazione Italiana Linfomi (FIL) MCL0208 phase 3 trial (NCT02354313), evaluating lenalidomide maintenance versus observation after chemoimmunotherapy and autologous stem cell transplantation (ASCT) in untreated young MCL patients. Overall, 254/300 (85%) enrolled patients (median age 57 years [32-66]) had a baseline sample available for CH analysis.

Comprehensive analysis of parvovirus B19 infection in blood donors: epidemiological trend and implications for transfusion safety and management strategies in Italy.

Parvovirus B19 (B19V) presents a significant concern in the context of blood transfusion safety, given its potential for transmission through contaminated blood products, and the increased viral circulation recently reported across Europe. This study examines the recent epidemiological trends of B19V in Italy, where a notable increase in B19V-positive plasma units was observed during early 2024. While routine NAT testing for B19V in individual blood donations is not currently justified, the existing screening protocols for plasma intended for industrial fractionation are crucial to ensure the safety of plasma-derived medicinal products.

Biomarkers of Importance in Monitoring Heart Condition After Acute Myocardial Infarction.

Despite notable advancements in cardiovascular medicine, morbidity and mortality rates associated with myocardial infarction (MI) remain high. The unfavourable prognosis and absence of robust post-MI protocols necessitate further intervention. In this comprehensive review, we will focus on well-established and novel biomarkers that can provide insight into the processes that occur after an ischemic event.

Prognostic Value of Myocardial CT-ECV in Severe Aortic Stenosis Requiring Aortic Valve Replacement: A Systematic Review and Meta-analysis.

Aim: Computed tomography (CT)-derived extracellular volume fraction (ECV) is a non-invasive method to quantify myocardial fibrosis. Evaluating CT-ECV during aortic valve replacement (AVR) planning CT in severe aortic stenosis (AS) may aid prognostic stratification. This meta-analysis evaluated the prognostic significance of CT-ECV in severe AS necessitating AVR.

Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.

Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.

Establishing minimal clinically important difference of modified dynamic gait index in people with subacute stroke.

Background: People with stroke (PwST) often have significant balance limitations, making it crucial to focus rehabilitation on improving mobility and reducing the risk of falls. The Modified Dynamic Gait Index (MDGI) is recommended for measuring balance in various neurological conditions, but a minimal clinically important difference (MCID) score specific to PwST is missing.

Objectives: To calculate the MCID of the MDGI in PwST during the subacute phase.

Biatrial and Biventricular Reference Ranges Based on Cardiac Magnetic Resonance in Sickle Cell Disease Patients Without Heart Damage.

Background/objectives: We aimed to establish biatrial and biventricular reference ranges using cardiac magnetic resonance (CMR) parameters in SCD patients without heart damage.

Methods: This study compared CMR parameters, quantified by cine SSFP sequences, in 48 adult SCD patients without apparent cardiac involvement (defined by the absence of known risk factors, normal electrocardiogram, and no macroscopic myocardial fibrosis or significant cardiac iron on T2* CMR) to matched cohorts of 96 healthy controls and 96 thalassemia major (TM) patients without cardiac damage. Nine paediatric SCD patients were also analysed and compared to age- and gender-matched groups of nine TM patients and nine healthy subjects.

Obsessive-Compulsive Symptoms in the General Population Under Stressful Conditions: Lessons Learned from the COVID-19 Pandemic.

: The COVID-19 pandemic had a negative impact on mental health in the general population. The fear, stress, and uncertainty surrounding that traumatic period could have contributed to the aggravation or possible new onset of obsessive-compulsive symptoms. The COvid Mental hEalth Trial (COMET) is a nationwide project organized by the University of Campania "Luigi Vanvitelli", designed as an observational investigation that aimed to gather data from a representative sample of the Italian general population.

Initial Glutathione Depletion During Short-Term Bed Rest: Pinpointing Synthesis and Degradation Checkpoints in the γ-Glutamyl Cycle.

Hypokinesia triggers oxidative stress and accelerates the turnover of the glutathione system via the γ-glutamyl cycle. Our study aimed to identify the regulatory checkpoints controlling intracellular glutathione levels. We measured the intermediate substrates of the γ-glutamyl cycle in erythrocytes from 19 healthy young male volunteers before and during a 10-day experimental bed rest.

Survival after surgery for acute type A aortic dissection in octogenarians.

Objective: To evaluate the benefits of surgical repair acute type A aortic dissection (ATAAD) on survival of octogenarians.

Methods: Patients who underwent surgery for acute ATAAD from the multicenter European Registry of Type A Aortic Dissection (ERTAAD) were the subjects of the present analysis.

Results: 326 (8.

A simplified multidimensional scale approach is effective in predicting mortality in hospitalized older adults and highlights the role of nutrition.

Background & Aims: Malnutrition and cognitive impairment are among the major contributors to frailty, that significantly increases the risk of mortality of older hospitalized patients. Multidimensional frailty assessment tools, such as the multidimensional prognostic index-MPI, a tool based on a standard comprehensive geriatric assessment (CGA), have proven valuable for predicting adverse outcomes, including mortality of older adults following acute illness but its application in everyday clinical practice is limited. We hypothesized that removing parameters not closely associated with mortality and sorting the patient population according to the presence or not of cognitive impairment with possible integration of common laboratory markers, could provide a simplified approach that could improve practicability in all settings with at least comparable 1-year mortality predictive value.

The dark side of the fibroblastic sleeve: Case report and literature review.

The fibroblastic sleeve is a structure potentially enveloping any intravascular device. At ultrasound scan, it typically presents as a thin layer of variably echogenic material covering the catheter surface, which usually tends to remain into the vessel after the catheter removal. However, several case reports have documented its migration toward the heart or pulmonary artery after a central venous catheter removal.

[Mineralocorticoid receptor antagonists in heart failure with preserved/mildly reduced ejection fraction: from TOPCAT to FINEARTS-HF].

Mineralocorticoid receptor antagonists (MRAs) represent one of the cornerstones of treatment for heart failure with reduced ejection fraction. Post-hoc data from the TOPCAT trial, conducted in patients with heart failure mildly reduced or preserved ejection fraction (HFmrEF/HFpEF), suggest the possible clinical benefit of MRAs, particularly for slightly reduced ejection fraction values. The advent of non-steroidal MRAs, including finerenone, seems to represent a turning point in the treatment for HFmrEF/HFpEF.

[Multidisciplinary and multiprofessional care to multimorbid chronic patients with cardiovascular disease: the experience of the Azienda Sanitaria Universitaria Giuliano Isontina].

The world of chronic non-communicable diseases is progressively growing epidemiologically, requiring a significant commitment of resources, continuity of care, and strong integration between healthcare professionals and care settings. The National Recovery and Resilience Plan, in the Ministerial Decree 77 of 23/5/2022, identifies Community Homes as the privileged location for providing integrated, multidisciplinary and multiprofessional interventions, involving specialists and nursing clinics, general practitioners and district structures, utilizing all the necessary technological equipment, including digital platforms for telemedicine. In this context, cardiology is facing a complicated challenge: cardiologists must take care of patients with cardiovascular diseases who have also complex comorbidities and are required to extend their knowledge beyond the specific, sometimes super-specialistic, cardiovascular field, to avoid fragmentation, redundancy, and potential conflicts in the diagnostic-therapeutic care pathways.

Needs, rights and perspectives in the Birth Care Pathway during COVID-19 lockdown in Italy: the BiSogni Study, an exploratory qualitative research.

Background: With the COVID-19 emergency, the provision of healthcare had to be reorganized. Community Health Services for Families of Trieste adopted new methods to ensure continuity of care and the maintenance of the Standards and Good Practices of the Baby Friendly Initiative of UNICEF for the Birth Care Pathway. The aim of the study was to identify the perceived needs of women, couples, caregivers, and health professionals during the COVID-19 pandemic and evaluate new healthcare strategies, identifying weaknesses and strengths, and future developments.