Coronary artery calcification as an incremental predictive risk: Research perspectives in primary prevention.

Coronary artery calcium (CAC) score is a neglected biomarker that can be derived from non-cardiac chest computed tomography scan and represents a surrogate for atherosclerosis. We created a simulation model using different CAC score values in the MESA coronary artery risk score in a population derived from the Fourier Trial. CAC score could modulate the sample sizes of cardiovascular trials in primary and secondary prevention and offer new primary prevention treatments to high-risk subjects with reasonable numbers needed to treat comparable to secondary prevention trials.

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.

Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.

Urgent Coronary Angiography Following Cardiac Surgery: Insights from a High-Volume Cardiac Surgery Center.

Background: Post-operative myocardial infarction is a possible complication following cardiac surgery. Data on the incidence, predictors and prognosis of urgent coronary angiography (UCA) after cardiac surgery are scarce.

Aims (objectives): This study aims to report in hospital and 1-year follow-up outcomes of a recent large cohort of patients undergoing UCA after cardiac surgery.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.

Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023.

Long Stent Implantation on the Left Anterior Descending Coronary Artery at a Follow-Up of More Than Five Years.

Background: Stent implantation represents the standard of care in coronary intervention. While a short stent implanted on a focal lesion located on the left anterior descending artery (LAD) seems a reasonable alternative to an internal mammary implant, the same for long stents is still debated.

Methods: We reported the long-term data of 531 consecutive patients who underwent Percutaneous Coronary Intervention (PCI) with long stents in two highly specialized centres.

Double somatic mosaicism in Cornelia de Lange syndrome.

Post-zygotic mosaicism is a well-known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post-zygotic de novo mutational events. It has been identified in about 13% of Cornelia de Lange (CdLS) syndrome patients with a molecular diagnosis, an unusual high frequency. Here, we report the case of a patient affected by classic CdLS harboring post-zygotic mosaicism for two different likely pathogenic variants at the same nucleotide position in NIPBL.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Background: The recent guidelines suggest the use of genome-wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However, in many realities it still provides for the execution of a multi-step pathway, thus requiring several genetic tests to end the so-called 'diagnostic odyssey'.

Methods: We reported the results of GENE Project (Genomic analysis Evaluation NEtwork): a multicentre prospective cohort study on 125 paediatric outpatients with a suspected genetic disease in which we performed first-tier trio-WES, including exome-based copy number variation analysis, in parallel to a 'traditional approach' of two/three sequential genetic tests.

Systematic Review and Meta-Analysis of Oral Anticoagulant Therapy in Atrial Fibrillation Cancer Patients.

(1) Introduction: Cancer and atrial fibrillation (AF) are increasingly coexisting medical challenges. These two conditions share an increased thrombotic and bleeding risk. Although optimal regimens of the most suitable anti-thrombotic therapy are now affirmed in the general population, cancer patients are still particularly understudied on the matter; (2) Aims And Methodology: This metanalysis (11 studies (incl.

Chest CT opportunistic biomarkers for phenotyping high-risk COVID-19 patients: a retrospective multicentre study.

Objective: To assess the value of opportunistic biomarkers derived from chest CT performed at hospital admission of COVID-19 patients for the phenotypization of high-risk patients.

Methods: In this multicentre retrospective study, 1845 consecutive COVID-19 patients with chest CT performed within 72 h from hospital admission were analysed. Clinical and outcome data were collected by each center 30 and 80 days after hospital admission.

Red cell distribution width (RDW) is correlated to time of oxygen desaturation < 90% and length of sleep apneas in patients with sleep disorder breathing (SDB) and acute heart failure with preserved ejection fraction (HFpEF).

Background: Heart failure with preserved ejection fraction (HFpEF) is very frequently associated to sleep breathing disorders (SDB). Red blood cell distribution width (RDW) has been shown to be a potential inflammatory index linked to the degree of hypoxia and oxidative stress.

Aim: To identify the existence of a possible relationship between sleep apnea, oxygen saturation (SaO2) and RDW in a population of subjects affected by acute HFpEF (AHFpEF).

Rock around DYRK1A: Ethnic diversity, clinical challenges.

DYRK1A-related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance could make it less recognizable.

Determinants and long-term outcomes of largely uncovered struts in thin-struts drug-eluting stents assessed by optical coherence tomography.

Background: Uncovered struts are a determinant of stent failure. The impact of plaque composition and procedural factors on the occurrence, evolution, and outcomes of uncovered struts in a high-risk setting has not been investigated.

Objective: To investigate the determinants and long-term clinical impact of largely uncovered struts (LUS) in thin-struts drug-eluting stents (DES) implanted in complex lesions by intracoronary optical coherence tomography (OCT).

Multidisciplinary Integrated Care in Atrial Fibrillation (MICAF): A Systematic Review and Meta-Analysis.

To assess the effectiveness of multidisciplinary integrated care in the clinical outcomes of atrial fibrillation patients. Medline, EMBASE, and the CENTRAL trials registry of the Cochrane Collaboration were searched for articles on multidisciplinary integrated care in atrial fibrillation patients. The systematic review and meta-analysis included six and five articles, respectively, that compared the outcomes between the integrated care group and control group.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare germline missense variants in ; one identical variant was found in five individuals and another variant in two individuals.

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years).

Coronary access following ACURATE neo implantation for transcatheter aortic valve-in-valve implantation: analysis in patient-specific anatomies.

Background: Coronary access after transcatheter aortic valve implantation (TAVI) with supra-annular self-expandable valves may be challenging or un-feasible. There is little data concerning coronary access following transcatheter aortic valve-in-valve implantation (ViV-TAVI) for degenerated surgical bioprosthesis.

Aims: To evaluate the feasibility and challenge of coronary access after ViV-TAVI with the supra-annular self-expandable ACURATE neo valve.

AI-SCoRE (artificial intelligence-SARS CoV2 risk evaluation): a fast, objective and fully automated platform to predict the outcome in COVID-19 patients.

Purpose: To develop and validate an effective and user-friendly AI platform based on a few unbiased clinical variables integrated with advanced CT automatic analysis for COVID-19 patients' risk stratification.

Material And Methods: In total, 1575 consecutive COVID-19 adults admitted to 16 hospitals during wave 1 (February 16-April 29, 2020), submitted to chest CT within 72 h from admission, were retrospectively enrolled. In total, 107 variables were initially collected; 64 extracted from CT.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of known diseases. Multiple disorders in a single patient have been estimated to occur in approximately 2-7.5% of diagnosed cases, with higher frequency in consanguineous families.

[Left atrial appendage occlusion as replacement of coumarin anticoagulants in calciphylaxis].

Calcific uremic arteriolopathy (CUA), often referred to as calciphylaxis, is a rare condition potentially life-threatening seen in 1-4% of patients with kidney failure on chronic dialysis. Pathogenesis is not clear, but several risk factors have been identified, one of the most known among them is coumarin anticoagulants therapy (tAC). When CUA occurs, tAC is contraindicated: the left atrial appendage occlusion, in dialysed patients affected by non-valvular atrial fibrillation, could be contemplated in replacement of tAC, that should be considered by nephrologist and discussed by a multidisciplinary team including cardiologists.