A5056633560- Blood Coagulation and Thrombosis Mechanisms
- Genetic factors in colorectal cancer
- Venous Thromboembolism Diagnosis and Management
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Hemophilia Treatment and Research
- Folate and B Vitamins Research
- Acute Lymphoblastic Leukemia research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Systemic Sclerosis and Related Diseases
- MicroRNA in disease regulation
- Acute Myocardial Infarction Research
- Microscopic Colitis
- Atrial Fibrillation Management and Outcomes
- Eosinophilic Esophagitis
- Acute Myeloid Leukemia Research
- Platelet Disorders and Treatments
- CAR-T cell therapy research
- Cardiac Valve Diseases and Treatments
- Advanced biosensing and bioanalysis techniques
- Genomics and Chromatin Dynamics
- Cancer therapeutics and mechanisms
- Gene Regulatory Network Analysis
- Inflammatory Bowel Disease
Sapienza University of Rome
2013-2015
Azienda Ospedaliera Sant'Andrea
2012-2014
Istituto Superiore di Sanità
2003-2010
Università Cattolica del Sacro Cuore
1998-2004
Catholic University of America
1999-2001
Istituti di Ricovero e Cura a Carattere Scientifico
1998
Fondazione Santa Lucia
1998
Point mutations in the factor V gene (factor Leiden) and prothrombin (the substitution of A for G at position 20210) are most common causes inherited thrombophilia. Whether or not Leiden increases risk recurrent deep venous thrombosis is controversial, there no information on recurrence among carriers both mutations.
Patients with inflammatory bowel disease (IBD) have an increased risk of thrombotic complications. Moreover, a hypercoagulable state has been hypothesized as contributing factor in the pathogenesis IBD. Recently, growing amount interest focused on mild-to-moderate hyperhomocysteinemia for thromboembolic disease. We aimed to evaluate prevalence patients IBD and investigate contribution genetic defects enzymes involved homocysteine (Hcy) metabolism vitamin status determining levels plasma...
The G20210A mutation in the prothrombin gene is associated with an increased risk of a first venous thromboembolic episode; few data are available about long‐term for recurrent thromboembolism and it not known whether or carriers should be recommended lifelong anticoagulant treatment after thrombosis. We investigated 624 patients, referred previous objectively documented deep thrombosis legs pulmonary embolism, to determine heterozygous episode thromboembolism. After exclusion other...
Abstract Mismatch repair is the major pathway controlling genetic stability by removing mispairs caused faulty replication and/or mismatches containing oxidized bases. Thus, inactivation of Msh2 mismatch gene associated with a mutator phenotype and increased cancer susceptibility. The base excision Mutyh also involved in maintenance genomic integrity repairing premutagenic lesions induced oxidative DNA damage. Because evidence bacteria suggested that factors might have some overlapping...
Advanced melanoma patients have an extremely poor long term prognosis and are in strong need of new therapies. The recently developed targeted therapies resulted a marked antitumor effect, but most responses partial some degree toxicity remain the major concerns. Dendritic cells play key role activation immune system been typically used as ex vivo antigen-loaded cell drugs for cancer immunotherapy. Another approach consists intratumoral injection unloaded DCs that can exploit uptake wider...
Mild hyperhomocysteinaemia is an established risk factor for deep vein thrombosis (DVT); few data concerning its potential interaction with thrombophilic genotypes are available at the present time. We investigated 121 thrombosis-free individuals and 111 patients least one objectively confirmed episode of DVT. A condition (deficiency in antithrombin, protein C S, V Leiden, prothrombin G20210A) was detected 25.2% patients; mutant or were 6.6% controls. Hyperhomocysteinaemia found 14.4% 3. 3%...
The Mutyh DNA glycosylase is involved in the repair of oxidized bases. Mutations human MUTYH gene are responsible for colorectal cancer familial adenomatous polyposis. Since defective genes might contribute to increased risk associated with inflammatory bowel diseases, we compared response wild-type and Mutyh(-/-) mice oxidative stress.The severity colitis, changes expression inflammation, 8-oxoguanine levels microsatellite instability were analysed colon treated dextran sulfate sodium...
A hypercoagulable state has been hypothesized as a contributing factor in the pathogenesis of inflammatory bowel disease (IBD); moreover, such patients have an increased risk thrombotic complications. The aim present paper was to study prevalence two most important causes inherited thrombophilia: V Leiden and G20210A prothrombin-gene mutation with Crohn's (CD) ulcerative colitis (UC). Fifty-two affected by IBD (33 UC 19 CD, 16 female 36 male; mean age, 42 years) 156 healthy controls (48 108...
Membrane glycoprotein (GP) Ia/IIa mediates platelet adhesion to collagen. The linked C807T/G873A polymorphisms in the GP Ia gene are correlated with a variable expression of surface receptor, 807 TT/873 AA genotype being associated higher receptor density. Our study aimed evaluate possible role polymorphism as risk factor for acute coronary syndrome Italian population. We investigated 157 patients (117 myocardial infarction and 40 severe unstable angina) first manifestation disease occurring...
Microsatellite instability (MSI) in tumors is diagnostic for inactive DNA mismatch repair. It widespread among some tumor types, such as colorectal or endometrial carcinoma, but rarely found leukemia. Therapy-related acute myeloid leukemia/myelodysplastic syndrome (tAML/MDS) an exception, and MSI frequent tAML/MDS following cancer chemotherapy organ transplantation. The development of MSI+ associated with accumulation insertion/deletion mutations repetitive sequences. These events can cause...
// Francesca Grasso 1,2,* , Vitalba Ruggieri 3,* Gabriele De Luca 1 Paola Leopardi Maria Teresa Mancuso 4 Ida Casorelli 5 Pietro Pichierri Peter Karran 6 and Margherita Bignami Department of Environment Primary Prevention, Istituto Superiore di Sanità, Rome, Italy 2 Science, University Roma Tre, 3 Laboratory Pre-Clinical Translational Research, IRCCS, Referral Cancer Center Basilicata, Rionero in Vulture, Radiation Biology Biomedicine, Agenzia Nazionale per le Nuove Tecnologie,...
A 30-year-old woman affected by Mixed Connective Tissue Disease with scleroderma spectrum developed a facial eruption, clinical and histological characteristic of subacute cutaneous lupus erythematosus (SCLE). Speckled anti-nuclear antibodies, high-titer anti-ribonucleoprotein1, anti-Sm, anti-Cardiolipin (aCL) IgG/IgM, anti-Ro/SSA antibodies were positive. SCLE was resistant to Azathioprine, Hydroxychloroquine, Methotrexate while Mycophenolate Mofetil suspended due side effects....