A5021843146- Acute Ischemic Stroke Management
- Cardiac Valve Diseases and Treatments
- Aortic Disease and Treatment Approaches
- Metabolomics and Mass Spectrometry Studies
- Lipoproteins and Cardiovascular Health
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- Aortic aneurysm repair treatments
- Cardiovascular Issues in Pregnancy
- Peroxisome Proliferator-Activated Receptors
- Neurological Disease Mechanisms and Treatments
- Eicosanoids and Hypertension Pharmacology
- Fetal and Pediatric Neurological Disorders
- Cardiac Structural Anomalies and Repair
- Atrial Fibrillation Management and Outcomes
- Neonatal Respiratory Health Research
- Birth, Development, and Health
- Spinal Dysraphism and Malformations
- Cancer, Hypoxia, and Metabolism
- Intracerebral and Subarachnoid Hemorrhage Research
- Aortic Thrombus and Embolism
- Genomics and Rare Diseases
- Bone health and treatments
- Traditional Chinese Medicine Studies
- Cancer Genomics and Diagnostics
University of Florence
2015-2024
Azienda Ospedaliero-Universitaria Careggi
2016-2023
Background The genetic basis of stroke susceptibility remains to be elucidated. STR 1 quantitative trait locus ( 1/ QTL ) was identified on rat chromosome stroke‐prone spontaneously hypertensive SHRSP upon Japanese‐style stroke‐permissive diet JD ), and it contributes 20% the phenotype variance. Methods Results Nine hundred eighty‐six probe sets mapping were selected from Rat RAE 230A array screened through a microarray differential expression analysis in brains stroke‐resistant SHR SHRSR...
Aim We aimed to identify specific polymorphisms of genes encoding for vascular endothelial growth factor A (VEGFA), nitric oxide synthase (eNOS), renin-angiotensin system (angiotensinogen gene [AGT], angiotensinogen type 1 receptor [AGTR1], angiotensin-converting enzyme [ACE]), and heme oxygenase-1 (HMOX-1) in a cohort preterm infants correlate their presence with the development respiratory distress syndrome (RDS) requiring mechanical ventilation (MV), bronchopulmonary dysplasia (BPD),...
Next-generation sequencing (NGS)’s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by European Society Human Genetics. Factors different nature producing false-positive/negative data together with paucity internationally accepted guidelines providing specified quality metrics be followed diagnostics purpose made Sanger validation variants still mandatory. We reported analysis three cases discrepancy between a...
Abstract Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency which presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis strongly supported C1M presence numerous syndromes associated with different genes. Whole-exome sequencing (WES) 51 between isolated and syndromic pediatric cases their relatives was performed after confirmation defect brain magnetic...
Abstract Background Lipoprotein(a) [Lp(a)] level variability, related to atherothrombotic risk increase, is mainly attributed LPA gene, encoding apolipoprotein(a), with kringle IV type 2 (KIV2) copy number variation (CNV) acting as the primary genetic determinant. Genetic characterization of Lp(a) in continuous growth; nevertheless, peculiar structural characteristics this variant constitute a significant challenge development effective detection methods. The aim study was compare...
Long-term oral anticoagulation is the primary therapy for preventing ischemic stroke in patients with atrial fibrillation (AF). Different types of anticoagulant drugs can have specific effects on metabolism patients. Here we characterize, first time, serum metabolomic and lipoproteomic profiles AF treated anticoagulants: vitamin K antagonists (VKAs) or direct anticoagulants (DOACs). Serum samples 167 (median age 78 years, 62 % males, 70 DOACs treatment) were analyzed via high resolution 1H...
Here, we present an integrated multivariate, univariate, network reconstruction and differential analysis of metabolite–metabolite metabolite–lipid association networks built from array 18 serum metabolites 110 lipids identified quantified through nuclear magnetic resonance spectroscopy in a cohort 248 patients, which 22 died 82 developed poor functional outcome within 3 months acute ischemic stroke (AIS) treated with intravenous recombinant tissue plasminogen activator. We explored...
Background: To develop a tool for assessing normalcy of the thoracic aorta (TA) by echocardiography, based on either linear regression model (Z-score), or machine learning technique, namely one-class support vector (OC-SVM) (Q-score). Methods: TA diameters were measured in 1112 prospectively enrolled healthy subjects, aging 5 to 89 years. Considering sex, age and body surface area we developed two calculators traditional Z-score novel Q-score. The compared 198 adults with > 40 mm, 466...
Background: Acute ischemic stroke (AIS) represents one of the principal causes neurological morbidity and mortality worldwide. For a prompt efficient cerebral blood restoration, intravenous treatment with rt-PA is often combined mechanical thrombectomy (MT) which provides thrombi (CT) as study material, allowing investigation its cellular composition, morphological histopathological features. Indeed, determination etiology, typically defined by TOAST classification, paramount for prognostic...
In anticoagulated atrial fibrillation (AF) patients, the validity of models recommended for stratification risk ratio between benefits and hemorrhage is limited. We hypothesize that both circulating neuroimaging-based markers might improve prediction bleeding thrombotic in AF patients. The Strat-AF study an observational, prospective, single-center enrolling 170 patients with AF; recruited are evaluated by means a comprehensive protocol, clinical, cerebral magnetic resonance imaging...
Metabolic perturbations and inflammatory mediators play a fundamental role in both early late adverse post-acute ischemic stroke outcomes. Using data from the observational MAGIC (MArker bioloGici nell’Ictus Cerebrale) study, we evaluated effect of 130 serum metabolic features, using nuclear magnetic spectroscopy approach, on following outcomes: hemorrhagic transformation at 24 h after stroke, non-response to intravenous thrombolytic treatment with recombinant tissue plasminogen activator...
Abstract Size threshold for aortic surgery in bicuspid valve (BAV) is debated. Connective tissue disorders (CTDs) are claimed as a clinical turning point, suggesting early BAV patients with CTD. Thus, we aimed at developing score to detect high risk of carrying CTDs consecutive BAVs from primary care. Ninety-eight without ectopia lentis or personal/family history dissection were studied the Marfan syndrome Tuscany Referral Center. Findings compared those detected 84 matched sex and age. We...