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CO-04 | INTEGRATING EXPERTISE: IMPLEMENTATION OF A MULTIDISCIPLINARY PATHWAY FOR GENETIC TESTING AND COUNSELLING IN INHERITED BLEEDING DISORDERS E. Zacchi1|2, L. Piscitelli1, C. Manzi1, L. Godino2, F. Riccardi3, A. Vaisfeld2|4, L. Valdrè1 | 1Inherited Bleeding Disorders Unit, IRCCS AOUBO, Bologna, Italy; 2Medical Genetics Unit, IRCCS AOUBO, Bologna, Italy; 3Regional Hub Centre for Hemophilia and Inherited Bleeding Disorders, University Hospital of Parma, Italy; 4Department of Medical and Surgical Sciences, University of Bologna, Italy
152PDF: 20 -
PO137 | SMAD3 VARIANTS IN LOEYS-DIETZ SYNDROME: RELATIONSHIP WITH NON-AORTIC CARDIOVASCULAR FEATURES E. Sticchi1, L. Squillantini1, P. Cantini1, S. Suraci1, F. Basso1, G. Barbieri1, A. Kura1, F. Gensini2, E. Fiorentini2, S. Nistri3, G. Pepe1, A.M. Gori1, M. Berteotti1, R. Marcucci1, B. Giusti1 | 1Atherothrombotic Diseases Center, Dpt. Experimental and Clinical Medicine, University of Florence - Careggi Hospital, Firenze, Italy; 2Dpt. Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Firenze, Italy; 3Cardiology Service CMSR Veneto Medica Altavilla Vicentina, Vicenza, Italy
44PDF: 29 -
PO134 | FAMILIAL HYPERCHOLESTEROLEMIA 57-GENE PANEL MUTATIONAL ANALYSIS: INSIGHT INTO CARDIOVASCULAR RISK GENETIC PREDISPOSITION A. Kura1, E. Sticchi1, G. Barbieri1, F. Basso1, P. Cantini1, S. Suraci1, M. Berteotti1, E. Lotti1, F. Crudele1, G.M. Scaturro2, A. Rogolino1, A.M. Gori1, R. Marcucci1, B. Giusti1 | 1Atherothrombotic Diseases Center, Department of Experimental and Clinical Medicine, University of Florence - Careggi Hospital, Firenze, Italy; 2Meyer Children's Hospital IRCCS, Metabolic and Neuromuscular Unit, Firenze, Italy
45PDF: 27 -
CO-03 | BEYOND CONVENTIONAL TESTING: NANOPORE LONG-READ SEQUENCING FOR RECURRENT F8 INVERSIONS IN HEMOPHILIA A A. Taiani1|2, F. Riccardi1, L. Cozzuto4, A. Delgado4, S. Busciglio1|2, G. Quintavalle1, A. Matichecchia1, I. Tassoni1, B.M. Roccon1, I. R. Cannizzaro2, A. Luberto2, J. Ponomarenko4, A. Percesepe3, V. Barili2, A. Coppola1 | 1Regional Hub Center for Hemophilia and Congenital Bleeding Disorders, University Hospital of Parma, Italy; 2Medical Genetics, Department of Medicine and Surgery, University of Parma, Italy; 3Medical Genetics, University Hospital of Parma, Italy; 4Centre Genomic Regulation, CRG, Barcelona, Spain
150PDF: 21 -
PO144 | KIV2 LPA POLYMORPHISM: ROLE IN BAV CLINICAL COMPLICATIONS ACCORDING TO DIFFERENT CLINICAL SETTINGS P. Cantini1, E. Sticchi1, G. Barbieri1, R. Orsi1, A. Kura1, F. Basso1, A. Rogolino1, M. Berteotti1, S. Nistri2, P. Stefàno3, R. Marcucci1, B. Giusti1 | 1Atherothrombotic Diseases Center, Dep. of Experimental and Clinical Medicine, University of Florence, Careggi Hospital, Firenze, Italy; 2Cardiology Service CMSR Veneto Medica Altavilla Vicentina, Vicenza, Italy; 3Cardiac Surgery Unit, Department of Experimental and Clinical Medicine, University of Florence, Careggi Hospital, Firenze, Italy
41PDF: 24 -
CO47 | Genetic characterization of the KIV2 LPA polymorphism in subjects with bicuspid aortic valve with different clinical complications R. Orsi1, G. Barbieri1, E. Sticchi1,2, A. Kura1, L. Squillantini1, P. Cantini1, A. Rogolino2, M. Berteotti1,2, S. Nistri3, P. Stefàno4, R. Marcucci1,2, B. Giusti1,2 | 1Department of Experimental and Clinical Medicine, University of Firenze; 2Centre for Atherothrombotic Diseases, AOU Careggi, Firenze; 3Cardiology, CMSR Veneto Medica, Altavilla Vicentina; 4Cardiac Surgery, AOU-Careggi, Firenze, Italy
633PDF: 22 -
CO027 | PREIMPLANTATION GENETIC TESTING IN FAMILIES AT RISK OF HEMOPHILIA: RESULTS FROM A SINGLE CENTER M. Mortarino1, I. Garagiola1, V. Nicotra2, A. Riccaboni3, C. Guarneri3, E. Somigliana3, F. Peyvandi1|4 | 1Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milano, Italy; 2Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy; 3Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy; 4Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milano, Italy
60PDF: 35 -
CO13 | Genetic background in hypercholesterolemic patients framing cardiovascular risk A. Kura1, E. Sticchi2, G. Barbieri1, R. Orsi1, S. Suraci1, G.M. Scaturro3, E. Lotti4, F. Crudele4, M. Berteotti2, A.M. Gori2, R. Marcucci2, B. Giusti2 | 1Department of Experimental and Clinical Medicine, Firenze; 2Department of Experimental and Clinical Medicine, Atherothrombotic Diseases Center, Careggi Hospital, Firenze; 3Meyer Children’s Hospital IRCCS, Firenze; 4Atherothrombotic Diseases Center, Careggi Hospital, Firenze, Italy
733PDF: 34 -
CO021 | TIME COURSE OF LP(a) LEVELS AFTER ACUTE CORONARY SYNDROME: A LONGITUDINAL STUDY G. Barbieri1, A.M. Gori1, G. Ciarrocca Taranta1, M. Di Gioia1, F. Alfano1, E. Lotti1, A. Rogolino1, F. Cesari1, B. Giusti1, M. Berteotti1, R. Marcucci1 | 1Atherothrombotic Diseases Center, Department of Experimental and Clinical Medicine, University of Florence - Careggi Hospital, Firenze, Italy
60PDF: 24 -
CO003 | GENOMIC INCIDENTAL FINDINGS IN DISORDERS OF HEMOSTASIS M. D'Apolito, G D'Andrea, G.P. Palladino, C. Ceccarini, G. Cordisco, A. Leccese, I. Adipietro, P. Stanziale, M. Margaglione, R. Santacroce | Medical Genetics, Dept. of Clinical and Experimental Medicine, University of Foggia, Italy
148PDF: 25 -
PO097 | DETERMINANTS OF PLATELET COUNT IN A LARGE SINGLE TERTIARY CARE COHORT: IMPACT OF AGE, SEX, PLATELET REACTIVITY, CARDIOVASCULAR RISK FACTORS AND ANTIPLATELET THERAPY S. De Corci, N. Manganello, E. Schiera, S. Terracina, A. Di Battista, F.M. Pulcinelli | Experimental Medicine, Sapienza University of Rome, Italy
60PDF: 21 -
PO081 | FROM VON WILLEBRAND DISEASE TO MILD HEMOPHILIA A AND BACK: THREE ILLUSTRATIVE CASES HIGHLIGHTING THE ROLE OF GENETIC TESTING IN IMPROVING DIAGNOSTIC ACCURACY E. Zacchi1|2, L. Piscitelli1, A. Vaisfeld2|3, C. Manzi1, L. Godino2, P. Magini2, F. Riccardi4, L. Valdrè1 | 1Inherited Bleeding Disorders Unit, IRCCS AOUBO, Bologna, Italy; 2Medical Genetics Unit, IRCCS AOUBO, Bologna, Italy; 3Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; 4Regional Reference Centre for Inherited Bleeding Disorders, University Hospital of Parma, Parma, Italy
66PDF: 23 -
CO075 | PLATELET ACTIVATION PROFILE IN RELAPSING-REMITTING MULTIPLE SCLEROSIS AND ITS RELATIONSHIP WITH NEURONAL AND ASTROGLIAL BIOMARKERS A. Fioretti1, M. Scavone1, A. Mingione2|3, C. Monzani2|3, M. Miozzo4, F. Martinelli-Boneschi2|3|5, G.M. Podda1 | 1Division of Medicina Generale SP, ASST Santi Paolo e Carlo, Laboratory of Haemostasis and Thrombosis, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy; 2Laboratory of Precision Medicine of Neurological Diseases, Department of Health Science, University of Milano, Milano, Italy; 3CRC “Aldo Ravelli” for Experimental Brain Therapeutics, Department of Health Science, University of Milano, Milano, Italy; 4Department of Health Sciences, Division of Medical Genetics, University of Milano, ASST Santi Paolo e Carlo, Milano, Italy; 5Clinical Neurology Unit, ASST Santi Paolo e Carlo and Department of Health Sciences, University of Milano, Milano, Italy
69PDF: 23 -
CO060 | LP(a) AND CARDIOVASCULAR RISK IN FAMILIAL HYPERCHOLESTEROLEMIA F. Basso1, G. Barbieri1, E. Sticchi1, A. Kura1, P. Cantini1, S. Suraci1, M. Berteotti1, E. Lotti1, F. Crudele1, G.M. Scaturro2, A. Rogolino1, A.M. Gori1, R. Marcucci1, B. Giusti1 | 1Atherothrombotic Diseases Center, Department of Experimental and Clinical Medicine, University of Florence, Careggi Hospital, Firenze, Italy; 2Meyer Children's Hospital IRCCS, Metabolic and Neuromuscular Unit, Firenze, Italy
56PDF: 31
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