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743 results on '"PUDDU A."'

1. Congenital Cardiac Defects, Such as Eustachian Valve, May Increase the Risk of Cryptogenic Stroke: A Case Report

Author

Giampaolo Bianchi, Marco Zoli, Chiara Bandinelli, Anna Balducci, Giovanni M. Puddu, Bandinelli, Chiara, Puddu, Giovanni Maria, Balducci, Anna, Bianchi, Giampaolo, and Zoli, Marco

Subjects
medicine.medical_specialty, business.industry, Eustachian Valve, Cryptogenic Stroke, Patent Foramen Ovale, PFO, Endocarditis, Staphylococcus aureus, Transesophageal Echocardiography, Migraine, medicine.disease, Pathophysiology, Transcranial Doppler, Shunt (medical), Eustachian Valve, Migraine, Internal medicine, otorhinolaryngologic diseases, Patent foramen ovale, medicine, Cardiology, Endocarditis, business, Stroke
Abstract

Eustachian valve is an embryonic endocardial heart structure; after birth it becomes an embryogenic residue and its persistance in adult life is unusual.The literature reports some cases of association between Eustachian valve and PFO and is known that the prominent Eustachian valve can represent a way facilitating systemic embolism. Several studies also investigated the role of Eustachian valve in the pathophysiology of both migraine and cerebral em-bolism.In addiction is known how Eustachian valve may increase the risk of endocarditis, which mostly affects intravenous drug abusers or those withimplanted medical devices or central venous catheters. The most commonly identified organism is Staphylococcus aureus(approximately 53% of cases).We present a case of a 46-year-old woman with known migraine. She was hos-pitalized in Stroke Unit for a cryptogenic stroke with a right-to -left shunt de-tected with transcranial doppler ultrasound with “bubble test” and a patent foramen ovale with right-to-left shunt with a fenestration of atrial septumand a voluminous Eustachian valve detected with transesophageal echocardiogra-phy; she developed fever with a blood cultures positive for methicillin-resis-tant Staphylococcus aureus(MRSA), even if without evidence of endocarditis vegetations. In summary, the objective of our paper is to present an example of a correlation between the persistence of the Eustachian valve with bothcryptogenetic stroke, possible valve infection and migraine

Published
2020

2. Simple versus complex carbohydrates and health: A frequently neglected problem

Author

Paolo Emilio Puddu and Alessandro Menotti

Subjects
Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Data synthesis, Medicine (miscellaneous), 030209 endocrinology & metabolism, Protective Factors, 030204 cardiovascular system & hematology, Cvd mortality, Bioinformatics, Risk Assessment, Coronary heart disease, 03 medical and health sciences, 0302 clinical medicine, Cardiovascular Diseases, Heart Disease Risk Factors, Terminology as Topic, Dietary Carbohydrates, Humans, Medicine, Cardiology and Cardiovascular Medicine, business, Nutritive Value, Dietary fat, Simple (philosophy)
Abstract

Aims For several decades, there has been a notion that dietary fat is made of different components (at least SAFA, MUFA, and PUFA) that exhibit different and sometimes contrasting effects when associated with health and diseases: coronary heart disease (CHD) and cardiovascular diseases (CVD) in general. A similar fact is not noticed in carbohydrates and their components considering that even some major recent studies on the issue did not segregate simple carbohydrates from complex carbohydrates. In this study, we aimed to stress this need. Data synthesis A small number of selected studies are presented and commented where segregation of simple from complex carbohydrates was either performed or disregarded to address the inconsistency of not disentangling them. Conclusions If only total fats were considered in investigations where fat was studied, the present notion and attitude toward different roles of the various classes of fats, at least SAFA versus unsaturated (MUFA and PUFA) would be missing. Therefore, there is a need to disentangle simple from complex carbohydrates, and this should be systematically applied when addressing CHD or CVD mortality risks and their preventive measures.

Published
2021

3. Lifestyle as determinant of all-cause mortality and age at death. A middle-aged male population followed-up 60 years until the survivors were aged 100 years

Author

Alessandro Menotti, Paolo Emilio Puddu, and Giovina Catasta

Subjects
Male, Aging, Mediterranean diet, media_common.quotation_subject, Population, Diet, Mediterranean, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Humans, Medicine, Survivors, 030212 general & internal medicine, Mortality, education, Exercise, Life Style, Survival analysis, Proportional Hazards Models, media_common, education.field_of_study, business.industry, Proportional hazards model, Mortality rate, Smoking, Hazard ratio, Longevity, Middle Aged, Confidence interval, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Demography
Abstract

To relate major lifestyle habits with all-cause mortality in an almost extinct male middle-aged population. A 40–59 aged male population of 1712 subjects was enrolled and examined in 1960 and then followed-up for 60 years. Baseline smoking habits, working physical activity and dietary habits, each subdivided into 3 classes, were related to 60-year mortality, by Kaplan–Meier survival curves, Cox proportional hazards model and to age at death during 60 years by multiple linear regression. Death rate in 60 years was of 99.7% with only 5 survivors and 2 lost to follow-up after 50 years. Two out of three classes of each behavior were significantly protective versus the third class in all the statistical approaches. Cox hazard ratios (and their 95% confidence limits) of never smokers versus smokers was 0.71 (0.63–0.79); that of vigorous physical activity versus sedentary activity was 0.75 (0.64–0.89); that of Mediterranean diet versus Not Mediterranean diet was 0.74 (0.66–0.84). The gain of age at death for never smokers versus smokers was 3.32 years (2.05–4.54); of vigorous physical activity versus sedentary activity was 3.53 years (1.68–5.37); that of Mediterranean diet versus Not Mediterranean diet was 3.67 years (2.32–5.02). Age at death was more than 10 years longer for men with the 3 best behaviors than for those with the 3 worst behaviors. Some lifestyle habits are strongly related to lifetime mortality and longevity.

Published
2021

4. Parental Infertility: Impact of the Quality of the Relation between Parents and Adopted Children

Author

Rosaria Giampaolo, Stefania Baldassari, Alessia Puddu, Andrea Finocchi, Hyppolite K. Tchidjou, and Maria Fenicia Vescio

Subjects
Infertility, Home environment, General Arts and Humanities, media_common.quotation_subject, Mean value, Fertility, Affect (psychology), medicine.disease, Family relations, medicine, Quality (business), Psychology, Clinical psychology, media_common
Abstract

Background: Infertility-related stress is often greatest for heterosexual couples who pursue more extensive fertility treatments as In Vitro Fertilization (IVF) than other couples. Treatments can affect the development of the parent-child relationship of couples who then decided to adopt a child. Aims: This study was performed to demonstrate that the couples who underwent In Vitro Fertilization (IVF) before adopting a child, could have more difficulties in the relationship with the adopted child than the other couples. Methods: Parents were interviewed by a pediatrician and by a psychologist to collect socio-economic, clinical and psychological information regarding their own health and that of their children. A Multiple Indicators Multiple Causes (MIMIC) model was carried out. Results: Couple conflict and previous infertility treatment are directly related to Difficult Home Environment. High conflict couples and couples who underwent a fertility treatment have a higher mean value for Difficult Home Environment. Conclusions: These findings indicate that couples who underwent IVF had a higher level of stress and more difficulty in the development of a healthy parent-child relationship during and immediately after adoption.

Published
2021

5. Ischemic Stroke Due to Paradoxical Embolism in a Patient with Patent Foramen Ovale, Bilateral Distal Deep Vein Thrombosis and Platypnea-Orthodeoxia Syndrome: A Case Report

Author

Viola Tallarico, Paola Forti, Silvia Gianstefani, Giovanni M. Puddu, Marco Zoli, and Rossella Loiacono

Subjects
medicine.medical_specialty, business.industry, Heart malformation, medicine.medical_treatment, Deep vein, medicine.disease, Thrombosis, Stenosis, medicine.anatomical_structure, Paradoxical embolism, Respiratory failure, Internal medicine, medicine, Cardiology, Patent foramen ovale, cardiovascular diseases, business, Endarterectomy
Abstract

Patent foramen ovale (PFO) is a common congenital cardiac defect. It is usually asymptomatic, but it can be associated with relevant clinical manifestations such as cryptogenic stroke and platypnea-orthodeoxia syndrome. We present the case of a patient with hemodynamically significant carotid artery stenosis who underwent endarterectomy for a transient ischemic attack (TIA). After surgery, the patient presented an ischemic stroke due to M2 occlusion treated with mechanical thrombectomy. During hospitalization, a distal bilateral deep vein thrombosis was found. The patient developed respiratory failure due to a massive right-to-left shunt through a large PFO (platypnea-orthodeoxia syndrome). These findings are consistent with the hypothesis that the TIA and the subsequential ischemic stroke were related to paradoxical embolism rather than atherothromboembolism. The aim of our case report is to raise awareness of the possible complications of such a common finding as PFO.

Published
2021

6. Second asymptomatic carotid surgery trial (ACST-2): a randomised comparison of carotid artery stenting versus carotid endarterectomy

Author

Alison Halliday, Richard Bulbulia, Leo H Bonati, Johanna Chester, Andrea Cradduck-Bamford, Richard Peto, Hongchao Pan, John Potter, Hans Henning Eckstein, Barbara Farrell, Marcus Flather, Averil Mansfield, Boby Mihaylova, Kazim Rahimi, David Simpson, Dafydd Thomas, Peter Sandercock, Richard Gray, Andrew Molyneux, Cliff P Shearman, Peter Rothwell, Anna Belli, Will Herrington, Parminder Judge, Peter Leopold, Marion Mafham, Michael Gough, Piergiorgio Cao, Sumaira MacDonald, Vasha Bari, Clive Berry, S Bradshaw, Wojciech Brudlo, Alison Clarke, Robin Cox, Susan Fathers, Kamran Gaba, Mo Gray, Elizabeth Hayter, Constance Holliday, Rijo Kurien, Michael Lay, Steffi le Conte, Jessica McManus, Zahra Madgwick, Dylan Morris, Andrew Munday, Sandra Pickworth, Wiktor Ostasz, Michiel Poorthuis, Sue Richards, Louisa Teixeira, Sergey Tochlin, Lynda Tully, Carol Wallis, Monique Willet, Alan Young, Renato Casana, Chiara Malloggi, Andrea Odero Jr, Vincenzo Silani, Gianfranco Parati, Giuseppe Malchiodi, Giovanni Malferrari, Francesco Strozzi, Nicola Tusini, Enrico Vecchiati, Gioacchino Coppi, Antonio Lauricella, Roberto Moratto, Roberto Silingardi, Jessica Veronesi, Andrea Zini, Emanuele Ferrero, Michelangelo Ferri, Andrea Gaggiano, Carmelo Labate, Franco Nessi, Daniele Psacharopulo, Andrea Viazzo, Giovanni Malacrida, Daniela Mazzaccaro, Giovanni Meola, Alfredo Modafferi, Giovanni Nano, Maria Teresa Occhiuto, Paolo Righini, Silvia Stegher, Stefano Chiarandini, Filippo Griselli, Sandro Lepidi, Fabio Pozzi Mucelli, Marcello Naccarato, Mario D'Oria, Barbara Ziani, Andrea Stella, Mortalla Dieng, Gianluca Faggioli, Mauro Gargiulo, Sergio Palermo, Rodolfo Pini, Giovanni Maria Puddu, Andrea Vacirca, Domenico Angiletta, Claudio Desantis, Davide Marinazzo, Giovanni Mastrangelo, Guido Regina, Raffaele Pulli, Paolo Bianchi, Lea Cireni, Elisabetta Coppi, Rocco Pizzirusso, Filippo Scalise, Giovanni Sorropago, Valerio Tolva, Valeria Caso, Enrico Cieri, Paola DeRango, Luca Farchioni, Giacomo Isernia, Massimo Lenti, Gian Battista Parlani, Guglielmo Pupo, Grazia Pula, Gioele Simonte, Fabio Verzini, Federico Carimati, Maria Luisa Delodovici, Federico Fontana, Gabriele Piffaretti, Matteo Tozzi, Efrem Civilini, Giorgio Poletto, Bernhard Reimers, Barbara Praquin, Sonia Ronchey, Laura Capoccia, Wassim Mansour, Enrico Sbarigia, Francesco Speziale, Pasqualino Sirignano, Danilo Toni, Roberto Galeotti, Vincenzo Gasbarro, Francesco Mascoli, Tiberio Rocca, Elpiniki Tsolaki, Giulia Bernardini, Ester DeMarco, Alessia Giaquinta, Francesco Patti, Massimiliano Veroux, Pierfrancesco Veroux, Carla Virgilio, Nicola Mangialardi, Matteo Orrico, Vincenzo Di Lazzaro, Nunzio Montelione, Francesco Spinelli, Francesco Stilo, Carlo Cernetti, Sandro Irsara, Giuseppe Maccarrone, Diego Tonello, Adriana Visonà, Beniamino Zalunardo, Emiliano Chisci, Stefano Michelagnoli, Nicola Troisi, Maela Masato, Massimo Dei Negri, Andrea Pacchioni, Salvatore Saccà, Giovanni Amatucci, Alfredo Cannizzaro, Federico Accrocca, Cesare Ambrogi, Renzo Barbazza, Giustino Marcucci, Andrea Siani, Guido Bajardi, Giovanni Savettieri, Angelo Argentieri, Riccardo Corbetta, Attilio Odero, Pietro Quaretti, Federico Z Thyrion, Alessandro Cappelli, Domenico Benevento, Gianmarco De Donato, Maria Agnese Mele, Giancarlo Palasciano, Daniela Pieragalli, Alessandro Rossi, Carlo Setacci, Francesco Setacci, Domenico Palombo, Maria Cecilia Perfumo, Edoardo Martelli, Aldo Paolucci, Santi Trimarchi, Viviana Grassi, Luigi Grimaldi, Giuliana La Rosa, Domenico Mirabella, Matteo Scialabba, Leonildo Sichel, Costantino L D'Angelo, Gian Franco Fadda, Holta Kasemi, Mario Marino, Francesco Burzotta, Francesco Alberto Codispoti, Angela Ferrante, Giovanni Tinelli, Yamume Tshomba, Claudio Vincenzoni, Deborah Amis, Dawn Anderson, Martin Catterson, Mike Clarke, Michelle Davis, Anand Dixit, Alexander Dyker, Gary Ford, Ralph Jackson, Sreevalsan Kappadath, David Lambert, Tim Lees, Stephen Louw, James McCaslin, Noala Parr, Rebecca Robson, Gerard Stansby, Lucy Wales, Vera Wealleans, Lesley Wilson, Michael Wyatt, Hardeep Baht, Ibrahim Balogun, Ilse Burger, Tracy Cosier, Linda Cowie, Gunaratnam Gunathilagan, David Hargroves, Robert Insall, Sally Jones, Hannah Rudenko, Natasha Schumacher, Jawaharlal Senaratne, George Thomas, Audrey Thomson, Tom Webb, Ellen Brown, Bernard Esisi, Ali Mehrzad, Shane MacSweeney, Norman McConachie, Alison Southam, Wayne Sunman, Ahmed Abdul-Hamiq, Jenny Bryce, Ian Chetter, Duncan Ettles, Raghuram Lakshminarayan, Kim Mitchelson, Christopher Rhymes, Graham Robinson, Paul Scott, Alison Vickers, Ray Ashleigh, Stephen Butterfield, Ed Gamble, Jonathan Ghosh, Charles N McCollum, Mark Welch, Sarah Welsh, Leszek Wolowczyk, Mary Donnelly, Stephen D'Souza, Anselm A Egun, Bindu Gregary, Thomas Joseph, Christine Kelly, Shuja Punekar, M Asad Rahi, Sonia Raj, Dare Seriki, George Thomson, James Brown, Ragunath Durairajan, Iris Grunwald, Paul Guyler, Paula Harman, Matthew Jakeways, Christopher Khuoge, Ashish Kundu, Thayalini Loganathan, Nisha Menon, Raji O Prabakaran, Devesh Sinha, Vicky Thompson, Sharon Tysoe, Dennis Briley, Chris Darby, Linda Hands, Dominic Howard, Wilhelm Kuker, Ursula Schulz, Rachel Teal, David Barer, Andrew Brown, Susan Crawford, Paul Dunlop, Ramesh Krishnamurthy, Nikhil Majmudar, Duncan Mitchell, Min P Myint, Richard O'Brien, Janice O'Connell, Naweed Sattar, Shanmugam Vetrivel, Jonathan Beard, Trevor Cleveland, Peter Gaines, John Humphreys, Alison Jenkins, Craig King, Daniel Kusuma, Ralph Lindert, Robbie Lonsdale, Raj Nair, Shah Nawaz, Faith Okhuoya, Douglas Turner, Graham Venables, Paul Dorman, Andrea Hughes, Deborah Jones, David Mendelow, Helen Rodgers, Aidas Raudoniitis, Peter Enevoldson, Hans Nahser, Imelda O'Brien, Francesco Torella, Dave Watling, Richard White, Pauline Brown, Dipankar Dutta, Lorraine Emerson, Paula Hilltout, Sachin Kulkarni, Jackie Morrison, Keith Poskitt, Fiona Slim, Sarah Smith, Amanda Tyler, Joanne Waldron, Mark Whyman, Milda Bajoriene, Lucy Baker, Amanda Colston, Bekky Eliot-Jones, Gita Gramizadeh, Catherine Lewis-Clarke, Laura McCafferty, Deborah Oliver, Debbie Palmer, Abhijeet Patil, Suzannah Pegler, Gopi Ramadurai, Aisling Roberts, Tracey Sargent, Shivaprasad Siddegowda, Ravi Singh-Ranger, Akintunde Williams, Lucy Williams, Steve Windebank, Tadas Zuromskis, Lanka Alwis, Jane Angus, Asaipillai Asokanathan, Caroline Fornolles, Diana Hardy, Sophy Hunte, Frances Justin, Duke Phiri, Marie Mitabouana-Kibou, Lakshmanan Sekaran, Sakthivel Sethuraman, Margaret L Tate, Joyce Akyea-Mensah, Stephen Ball, Angela Chrisopoulou, Elizabeth Keene, Alison Phair, Steven Rogers, John V Smyth, Colin Bicknell, Jeremy Chataway, Nicholas Cheshire, Andrew Clifton, Caroline Eley, Richard Gibbs, Mohammad Hamady, Beth Hazel, Alex James, Michael Jenkins, Nyma Khanom, Austin Lacey, Maz Mireskandari, Joanna O'Reilly, Antony Pereira, Tina Sachs, John Wolfe, Philip Davey, Gill Rogers, Gemma Smith, Gareth Tervit, Ian Nichol, Andrew Parry, Gavin Young, Simon Ashley, James Barwell, Francis Dix, Azlisham M Nor, Chris Parry, Angela Birt, Paul Davies, Jim George, Anne Graham, Leon Jonker, Nicci Kelsall, Caroline Potts, Toni Wilson, Jamie Crinnion, Larissa Cuenoud, Nikola Aleksic, Srdan Babic, Nenad Ilijevski, Đorde Radak, Dragan Sagic, Slobodan Tanaskovic, Momcilo Colic, Vladimir Cvetic, Lazar Davidovic, Dejana R Jovanovic, Igor Koncar, Perica Mutavdžic, Miloš Sladojevic, Ivan Tomic, Eike S Debus, Ulrich Grzyska, Dagmar Otto, Götz Thomalla, Jessica Barlinn, Johannes Gerber, Kathrin Haase, Christian Hartmann, Stefan Ludwig, Volker Pütz, Christian Reeps, Christine Schmidt, Norbert Weiss, Sebastian Werth, Simon Winzer, Janine Gemper, Albrecht Günther, Bianka Heiling, Elisabeth Jochmann, Panagiota Karvouniari, Carsten Klingner, Thomas Mayer, Julia Schubert, Friederike Schulze-Hartung, Jürgen Zanow, Yvonne Bausback, Franka Borger, Spiridon Botsios, Daniela Branzan, Sven Bräunlich, Henryk Hölzer, Janin Lenzer, Christopher Piorkowski, Nadine Richter, Johannes Schuster, Dierk Scheinert, Andrej Schmidt, Holger Staab, Matthias Ulrich, Martin Werner, Hermann Berger, Gábor Biró, Hans-Henning Eckstein, Michael Kallmayer, Kornelia Kreiser, Alexander Zimmermann, Bärbel Berekoven, Klaus Frerker, Vera Gordon, Giovanni Torsello, Sebastian Arnold, Cora Dienel, Martin Storck, Bernhard Biermaier, Hans Martin Gissler, Christof Klötzsch, Tomas Pfeiffer, Ralph Schneider, Leander Söhl, Michael Wennrich, Angelika Alonso, Michael Keese, Christoph Groden, Andreas Cöster, Andreas Engelhardt, Christoph-Maria Ratusinski, Bengt Berg, Martin Delle, Johan Formgren, Peter Gillgren, Lotta Jarl, Torbjörn B Kall, Peter Konrad, Niklas Nyman, Claes Skiöldebrand, Johnny Steuer, Rabbe Takolander, Jonas Malmstedt, Stefan Acosta, Katarina Björses, Kerstin Brandt, Nuno Dias, Anders Gottsäter, Jan Holst, Thorarinn Kristmundsson, Tobias Kühme, Tilo Kölbel, Bengt Lindblad, Mats Lindh, Martin Malina, Tomas Ohrlander, Tim Resch, Viola Rönnle, Björn Sonesson, Margareta Warvsten, Zbigniew Zdanowski, Erik Campbell, Per Kjellin, Hans Lindgren, Johan Nyberg, Björn Petersen, Gunnar Plate, Håkan Pärsson, Peter Qvarfordt, Pavel Ignatenko, Andrey Karpenko, Vladimir Starodubtsev, Mikhail A Chernyavsky, Maria S Golovkova, Boris B Komakha, Nikolay N Zherdev, Andrey Belyasnik, Pavel Chechulov, Dmitry Kandyba, Igor Stepanishchev, Csaba Csobay-Novák, Edit Dósa, László Entz, Balázs Nemes, Zoltán Szeberin, Pál Barzó, Mihaly Bodosi, Eniko Fákó, Béla Fülöp, Tamás Németh, Szilárd Pazdernyik, Krisztina Skoba, Erika Vörös, Eleni Chatzinikou, Athanasios Giannoukas, Christos Karathanos, Stylianos Koutsias, Georgios Kouvelos, Miltiadis Matsagkas, Styliani Ralli, Christos Rountas, Nikolaos Rousas, Konstantinos Spanos, Elias Brountzos, John D Kakisis, Andreas Lazaris, Konstantinos G Moulakakis, Leonidas Stefanis, Georgios Tsivgoulis, Spyros Vasdekis, Constantine N Antonopoulos, Ion Bellenis, Dimitrios Maras, Antonios Polydorou, Victoria Polydorou, Antonios Tavernarakis, Nikolaos Ioannou, Maria Terzoudi, Miltos Lazarides, Michalis Mantatzis, Kostas Vadikolias, Lukasz Dzieciuchowicz, Marcin Gabriel, Zbigniew Krasinski, Grzegorz Oszkinis, Fryderyk Pukacki, Maciej Slowinski, Michal-Goran Stanišic, Ryszard Staniszewski, Jolanta Tomczak, Maciej Zielinski, Piotr Myrcha, Dorota Rózanski, Stanislaw Drelichowski, Wojciech Iwanowski, Katarzyna Koncewicz, Pawel Bialek, Zbigniew Biejat, Wojciech Czepel, Anna Czlonkowska, Anatol Dowzenko, Julia Jedrzejewska, Adam Kobayashi, Jerzy Leszczynski, Andrzej Malek, Jerzy Polanski, Robert Proczka, Maciej Skorski, Mieczyslaw Szostek, Piotr Andziak, Maciej Dratwicki, Robert Gil, Miroslaw Nowicki, Jaroslaw Pniewski, Jaroslaw Rzezak, Piotr Seweryniak, Pawel Dabek, Michal Juszynski, Grzegorz Madycki, Bartosz Pacewski, Witold Raciborski, Piotr Slowinski, Walerian Staszkiewicz, Martin Bombic, Vladimír Chlouba, Jirí Fiedler, Karel Hes, Petr Koštál, Jindrich Sova, Zdenek Kríž, Mojmír Prívara, Michal Reif, Robert Staffa, Robert Vlachovský, Bohuslav Vojtíšek, Tomáš Hrbác, Martin Kuliha, Václav Procházka, Martin Roubec, David Školoudík, David Netuka, Anna Šteklácová, Vladimír Beneš III, Pavel Buchvald, Ladislav Endrych, Miroslav Šercl, Walter Campos Jr, Ivan B Casella, Nelson de Luccia, André E V Estenssoro, Calógero Presti, Pedro Puech-Leão, Celso R B Neves, Erasmo S da Silva, Cid J Sitrângulo Jr, José A T Monteiro, Gisela Tinone, Marcelo Bellini Dalio, Edwaldo E Joviliano, Octávio M Pontes Neto, Mauricio Serra Ribeiro, Patrick Cras, Jeroen M H Hendriks, Mieke Hoppenbrouwers, Patrick Lauwers, Caroline Loos, Laetitia Yperzeele, Mia Geenens, Dimitri Hemelsoet, Isabelle van Herzeele, Frank Vermassen, Parla Astarci, Frank Hammer, Valérie Lacroix, André Peeters, Robert Verhelst, Silvana Cirelli, Pol Dormal, Annelies Grimonprez, Bart Lambrecht, Philipe Lerut, Eddy Thues, Guy De Koster, Quentin Desiron, Alain Maertens de Noordhout, Danielle Malmendier, Mireille Massoz, Georges Saad, Marc Bosiers, Joren Callaert, Koen Deloose, Estrella Blanco Cañibano, Beatriz García Fresnillo, Mercedes Guerra Requena, Pilar C Morata Barrado, Miguel Muela Méndez, Antonio Yusta Izquierdo, Fernando Aparici Robles, Paula Blanes Orti, Luis García Dominguez, Rafael Martínez López, Manuel Miralles Hernández, José I Tembl Ferrairo, Ángel Chamorro, Juan Macho, Víctor Obach, Vincent Riambau, Luis San Román, Frank J Ahlhelm, Kristine Blackham, Stefan Engelter, Thomas Eugster, Henrik Gensicke, Lorenz Gürke, Philippe Lyrer, Luigi Mariani, Marina Maurer, Edin Mujagic, Mandy Müller, Marios Psychogios, Peter Stierli, Christoph Stippich, Christopher Traenka, Thomas Wolff, Benjamin Wagner, Martina M Wiegert, Sandra Clarke, Michael Diepers, Ernst Gröchenig, Philipp Gruber, Andrej Isaak, Timo Kahles, Regula Marti, Krassen Nedeltchev, Luca Remonda, Nadir Tissira, Martina Valença Falcão, Gert J de Borst, Rob H Lo, Frans L Moll, Raechel Toorop, Bart H van der Worp, Evert J Vonken, Jaap L Kappelle, Ommid Jahrome, Floris Vos, Wouter Schuiling, Hendrik van Overhagen, Rudolf W M Keunen, Bob Knippenberg, Jan J Wever, Jan W Lardenoije, Michel Reijnen, Luuk Smeets, Steven van Sterkenburg, Gustav Fraedrich, Elke Gizewski, Ingrid Gruber, Michael Knoflach, Stefan Kiechl, Barbara Rantner, Timur Abdulamit, Patrice Bergeron, Raymond Padovani, Jean-Christophe Trastour, Jean-Marie Cardon, Anne Le Gallou-Wittenberg, Eric Allaire, Jean-Pierre Becquemin, Frédéric Cochennec-Paliwoda, Pascal Desgranges, Hassan Hosseini, Hicham Kobeiter, Jean Marzelle, Mohammed A Almekhlafi, Simerpreet Bal, Phillip A Barber, Shelagh B Coutts, Andrew M Demchuk, Muneer Eesa, Michelle Gillies, Mayank Goyal, Michael D Hill, Mark E Hudon, Anitha Jambula, Carol Kenney, Gary Klein, Marie McClelland, Alim Mitha, Bijoy K Menon, William F Morrish, Steven Peters, Karla J Ryckborst, Greg Samis, Supriya Save, Eric E Smith, Peter Stys, Suresh Subramaniam, Garnette R Sutherland, Tim Watson, John H Wong, L Zimmel, Vojko Flis, Jože Matela, Kazimir Miksic, Franko Milotic, Božidar Mrdja, Barbara Stirn, Erih Tetickovic, Mladen Gasparini, Anton Grad, Ingrid Kompara, Zoren Miloševic, Veronika Palmiste, Toomas Toomsoo, Balzhan Aidashova, Nursultan Kospanov, Roman Lyssenko, Daulet Mussagaliev, Rafi Beyar, Aaron Hoffman, Tony Karram, Arthur Kerner, Eugenia Nikolsky, Samy Nitecki, Silva Andonova, Chavdar Bachvarov, Vesko Petrov, Ivan Cvjetko, Vinko Vidjak, Damir Halužan, Mladen Petrunic, Bao Liu, Chang-Wei Liu, Daniel Bartko, Peter Beno, František Rusnák, Kamil Zelenák, Masayuki Ezura, Takashi Inoue, Naoto Kimura, Ryushi Kondo, Yasushi Matsumoto, Hiroaki Shimizu, Hidenori Endo, Eisuke Furui, Søren Bakke, Kristen Krohg-Sørensen, Terje Nome, Mona Skjelland, Bjørn Tennøe, João Albuquerque e Castro, Gonçalo Alves, Frederico Bastos Gonçalves, José de Aragão Morais, Ana C Garcia, Hugo Valentim, Leonor Vasconcelos, Fernando Belcastro, Fernando Cura, Patricio Zaefferer, Foad Abd-Allah, Mohamed H Eldessoki, Hussein Heshmat Kassem, Haytham Soliman Gharieb, Mary P Colgan, Syed N Haider, Joe Harbison, Prakash Madhavan, Dermot Moore, Gregor Shanik, Viviane Kazan, Munier Nazzal, Vicki Ramsey-Williams, ACST-2 Collaborative Group, Group, ACST-2 Collaborative, Halliday A., Bulbulia R., Bonati L.H., Chester J., Cradduck-Bamford A., Peto R., Pan H., Potter J., Henning Eckstein H., Farrell B., Flather M., Mansfield A., Mihaylova B., Rahimi K., Simpson D., Thomas D., Sandercock P., Gray R., Molyneux A., Shearman C.P., Rothwell P., Belli A., Herrington W., Judge P., Leopold P., Mafham M., Gough M., Cao P., MacDonald S., Bari V., Berry C., Bradshaw S., Brudlo W., Clarke A., Cox R., Fathers S., Gaba K., Gray M., Hayter E., Holliday C., Kurien R., Lay M., le Conte S., McManus J., Madgwick Z., Morris D., Munday A., Pickworth S., Ostasz W., Poorthuis M., Richards S., Teixeira L., Tochlin S., Tully L., Wallis C., Willet M., Young A., Casana R., Malloggi C., Odero A., Silani V., Parati G., Malchiodi G., Malferrari G., Strozzi F., Tusini N., Vecchiati E., Coppi G., Lauricella A., Moratto R., Silingardi R., Veronesi J., Zini A., Ferrero E., Ferri M., Gaggiano A., Labate C., Nessi F., Psacharopulo D., Viazzo A., Malacrida G., Mazzaccaro D., Meola G., Modafferi A., Nano G., Occhiuto M.T., Righini P., Stegher S., Chiarandini S., Griselli F., Lepidi S., Pozzi Mucelli F., Naccarato M., D'Oria M., Ziani B., Stella A., Dieng M., Faggioli G., Gargiulo M., Palermo S., Pini R., Puddu G.M., Vacirca A., Angiletta D., Desantis C., Marinazzo D., Mastrangelo G., Regina G., Pulli R., Bianchi P., Cireni L., Coppi E., Pizzirusso R., Scalise F., Sorropago G., Tolva V., Caso V., Cieri E., DeRango P., Farchioni L., Isernia G., Lenti M., Parlani G.B., Pupo G., Pula G., Simonte G., Verzini F., Carimati F., Delodovici M.L., Fontana F., Piffaretti G., Tozzi M., Civilini E., Poletto G., Reimers B., Praquin B., Ronchey S., Capoccia L., Mansour W., Sbarigia E., Speziale F., Sirignano P., Toni D., Galeotti R., Gasbarro V., Mascoli F., Rocca T., Tsolaki E., Bernardini G., DeMarco E., Giaquinta A., Patti F., Veroux M., Veroux P., Virgilio C., Mangialardi N., Orrico M., Di Lazzaro V., Montelione N., Spinelli F., Stilo F., Cernetti C., Irsara S., Maccarrone G., Tonello D., Visona A., Zalunardo B., Chisci E., Michelagnoli S., Troisi N., Masato M., Dei Negri M., Pacchioni A., Sacca S., Amatucci G., Cannizzaro A., Accrocca F., Ambrogi C., Barbazza R., Marcucci G., Siani A., Bajardi G., Savettieri G., Argentieri A., Corbetta R., Quaretti P., Thyrion F.Z., Cappelli A., Benevento D., De Donato G., Mele M.A., Palasciano G., Pieragalli D., Rossi A., Setacci C., Setacci F., Palombo D., Perfumo M.C., Martelli E., Paolucci A., Trimarchi S., Grassi V., Grimaldi L., La Rosa G., Mirabella D., Scialabba M., Sichel L., D'Angelo C.L., Fadda G.F., Kasemi H., Marino M., Burzotta F., Codispoti F.A., Ferrante A., Tinelli G., Tshomba Y., Vincenzoni C., Amis D., Anderson D., Catterson M., Clarke M., Davis M., Dixit A., Dyker A., Ford G., Jackson R., Kappadath S., Lambert D., Lees T., Louw S., McCaslin J., Parr N., Robson R., Stansby G., Wales L., Wealleans V., Wilson L., Wyatt M., Baht H., Balogun I., Burger I., Cosier T., Cowie L., Gunathilagan G., Hargroves D., Insall R., Jones S., Rudenko H., Schumacher N., Senaratne J., Thomas G., Thomson A., Webb T., Brown E., Esisi B., Mehrzad A., MacSweeney S., McConachie N., Southam A., Sunman W., Abdul-Hamiq A., Bryce J., Chetter I., Ettles D., Lakshminarayan R., Mitchelson K., Rhymes C., Robinson G., Scott P., Vickers A., Ashleigh R., Butterfield S., Gamble E., Ghosh J., McCollum C.N., Welch M., Welsh S., Wolowczyk L., Donnelly M., D'Souza S., Egun A.A., Gregary B., Joseph T., Kelly C., Punekar S., Rahi M.A., Raj S., Seriki D., Thomson G., Brown J., Durairajan R., Grunwald I., Guyler P., Harman P., Jakeways M., Khuoge C., Kundu A., Loganathan T., Menon N., Prabakaran R.O., Sinha D., Thompson V., Tysoe S., Briley D., Darby C., Hands L., Howard D., Kuker W., Schulz U., Teal R., Barer D., Brown A., Crawford S., Dunlop P., Krishnamurthy R., Majmudar N., Mitchell D., Myint M.P., O'Brien R., O'Connell J., Sattar N., Vetrivel S., Beard J., Cleveland T., Gaines P., Humphreys J., Jenkins A., King C., Kusuma D., Lindert R., Lonsdale R., Nair R., Nawaz S., Okhuoya F., Turner D., Venables G., Dorman P., Hughes A., Jones D., Mendelow D., Rodgers H., Raudoniitis A., Enevoldson P., Nahser H., O'Brien I., Torella F., Watling D., White R., Brown P., Dutta D., Emerson L., Hilltout P., Kulkarni S., Morrison J., Poskitt K., Slim F., Smith S., Tyler A., Waldron J., Whyman M., Bajoriene M., Baker L., Colston A., Eliot-Jones B., Gramizadeh G., Lewis-Clarke C., McCafferty L., Oliver D., Palmer D., Patil A., Pegler S., Ramadurai G., Roberts A., Sargent T., Siddegowda S., Singh-Ranger R., Williams A., Williams L., Windebank S., Zuromskis T., Alwis L., Angus J., Asokanathan A., Fornolles C., Hardy D., Hunte S., Justin F., Phiri D., Mitabouana-Kibou M., Sekaran L., Sethuraman S., Tate M.L., Akyea-Mensah J., Ball S., Chrisopoulou A., Keene E., Phair A., Rogers S., Smyth J.V., Bicknell C., Chataway J., Cheshire N., Clifton A., Eley C., Gibbs R., Hamady M., Hazel B., James A., Jenkins M., Khanom N., Lacey A., Mireskandari M., O'Reilly J., Pereira A., Sachs T., Wolfe J., Davey P., Rogers G., Smith G., Tervit G., Nichol I., Parry A., Young G., Ashley S., Barwell J., Dix F., Nor A.M., Parry C., Birt A., Davies P., George J., Graham A., Jonker L., Kelsall N., Potts C., Wilson T., Crinnion J., Cuenoud L., Aleksic N., Babic S., Ilijevski N., Radak, Sagic D., Tanaskovic S., Colic M., Cvetic V., Davidovic L., Jovanovic D.R., Koncar I., Mutavdzic P., Sladojevic M., Tomic I., Debus E.S., Grzyska U., Otto D., Thomalla G., Barlinn J., Gerber J., Haase K., Hartmann C., Ludwig S., Putz V., Reeps C., Schmidt C., Weiss N., Werth S., Winzer S., Gemper J., Gunther A., Heiling B., Jochmann E., Karvouniari P., Klingner C., Mayer T., Schubert J., Schulze-Hartung F., Zanow J., Bausback Y., Borger F., Botsios S., Branzan D., Braunlich S., Holzer H., Lenzer J., Piorkowski C., Richter N., Schuster J., Scheinert D., Schmidt A., Staab H., Ulrich M., Werner M., Berger H., Biro G., Eckstein H.-H., Kallmayer M., Kreiser K., Zimmermann A., Berekoven B., Frerker K., Gordon V., Torsello G., Arnold S., Dienel C., Storck M., Biermaier B., Gissler H.M., Klotzsch C., Pfeiffer T., Schneider R., Sohl L., Wennrich M., Alonso A., Keese M., Groden C., Coster A., Engelhardt A., Ratusinski C.-M., Berg B., Delle M., Formgren J., Gillgren P., Jarl L., Kall T.B., Konrad P., Nyman N., Skioldebrand C., Steuer J., Takolander R., Malmstedt J., Acosta S., Bjorses K., Brandt K., Dias N., Gottsater A., Holst J., Kristmundsson T., Kuhme T., Kolbel T., Lindblad B., Lindh M., Malina M., Ohrlander T., Resch T., Ronnle V., Sonesson B., Warvsten M., Zdanowski Z., Campbell E., Kjellin P., Lindgren H., Nyberg J., Petersen B., Plate G., Parsson H., Qvarfordt P., Ignatenko P., Karpenko A., Starodubtsev V., Chernyavsky M.A., Golovkova M.S., Komakha B.B., Zherdev N.N., Belyasnik A., Chechulov P., Kandyba D., Stepanishchev I., Csobay-Novak C., Dosa E., Entz L., Nemes B., Szeberin Z., Barzo P., Bodosi M., Fako E., Fulop B., Nemeth T., Pazdernyik S., Skoba K., Voros E., Chatzinikou E., Giannoukas A., Karathanos C., Koutsias S., Kouvelos G., Matsagkas M., Ralli S., Rountas C., Rousas N., Spanos K., Brountzos E., Kakisis J.D., Lazaris A., Moulakakis K.G., Stefanis L., Tsivgoulis G., Vasdekis S., Antonopoulos C.N., Bellenis I., Maras D., Polydorou A., Polydorou V., Tavernarakis A., Ioannou N., Terzoudi M., Lazarides M., Mantatzis M., Vadikolias K., Dzieciuchowicz L., Gabriel M., Krasinski Z., Oszkinis G., Pukacki F., Slowinski M., Stanisic M.-G., Staniszewski R., Tomczak J., Zielinski M., Myrcha P., Rozanski D., Drelichowski S., Iwanowski W., Koncewicz K., Bialek P., Biejat Z., Czepel W., Czlonkowska A., Dowzenko A., Jedrzejewska J., Kobayashi A., Leszczynski J., Malek A., Polanski J., Proczka R., Skorski M., Szostek M., Andziak P., Dratwicki M., Gil R., Nowicki M., Pniewski J., Rzezak J., Seweryniak P., Dabek P., Juszynski M., Madycki G., Pacewski B., Raciborski W., Slowinski P., Staszkiewicz W., Bombic M., Chlouba V., Fiedler J., Hes K., Kostal P., Sova J., Kriz Z., Privara M., Reif M., Staffa R., Vlachovsky R., Vojtisek B., Hrbac T., Kuliha M., Prochazka V., Roubec M., Skoloudik D., Netuka D., Steklacova A., Benes III V., Buchvald P., Endrych L., Sercl M., Campos W., Casella I.B., de Luccia N., Estenssoro A.E.V., Presti C., Puech-Leao P., Neves C.R.B., da Silva E.S., Sitrangulo C.J., Monteiro J.A.T., Tinone G., Bellini Dalio M., Joviliano E.E., Pontes Neto O.M., Serra Ribeiro M., Cras P., Hendriks J.M.H., Hoppenbrouwers M., Lauwers P., Loos C., Yperzeele L., Geenens M., Hemelsoet D., van Herzeele I., Vermassen F., Astarci P., Hammer F., Lacroix V., Peeters A., Verhelst R., Cirelli S., Dormal P., Grimonprez A., Lambrecht B., Lerut P., Thues E., De Koster G., Desiron Q., Maertens de Noordhout A., Malmendier D., Massoz M., Saad G., Bosiers M., Callaert J., Deloose K., Blanco Canibano E., Garcia Fresnillo B., Guerra Requena M., Morata Barrado P.C., Muela Mendez M., Yusta Izquierdo A., Aparici Robles F., Blanes Orti P., Garcia Dominguez L., Martinez Lopez R., Miralles Hernandez M., Tembl Ferrairo J.I., Chamorro A., Macho J., Obach V., Riambau V., San Roman L., Ahlhelm F.J., Blackham K., Engelter S., Eugster T., Gensicke H., Gurke L., Lyrer P., Mariani L., Maurer M., Mujagic E., Muller M., Psychogios M., Stierli P., Stippich C., Traenka C., Wolff T., Wagner B., Wiegert M.M., Clarke S., Diepers M., Grochenig E., Gruber P., Isaak A., Kahles T., Marti R., Nedeltchev K., Remonda L., Tissira N., Valenca Falcao M., de Borst G.J., Lo R.H., Moll F.L., Toorop R., van der Worp B.H., Vonken E.J., Kappelle J.L., Jahrome O., Vos F., Schuiling W., van Overhagen H., Keunen R.W.M., Knippenberg B., Wever J.J., Lardenoije J.W., Reijnen M., Smeets L., van Sterkenburg S., Fraedrich G., Gizewski E., Gruber I., Knoflach M., Kiechl S., Rantner B., Abdulamit T., Bergeron P., Padovani R., Trastour J.-C., Cardon J.-M., Le Gallou-Wittenberg A., Allaire E., Becquemin J.-P., Cochennec-Paliwoda F., Desgranges P., Hosseini H., Kobeiter H., Marzelle J., Almekhlafi M.A., Bal S., Barber P.A., Coutts S.B., Demchuk A.M., Eesa M., Gillies M., Goyal M., Hill M.D., Hudon M.E., Jambula A., Kenney C., Klein G., McClelland M., Mitha A., Menon B.K., Morrish W.F., Peters S., Ryckborst K.J., Samis G., Save S., Smith E.E., Stys P., Subramaniam S., Sutherland G.R., Watson T., Wong J.H., Zimmel L., Flis V., Matela J., Miksic K., Milotic F., Mrdja B., Stirn B., Tetickovic E., Gasparini M., Grad A., Kompara I., Milosevic Z., Palmiste V., Toomsoo T., Aidashova B., Kospanov N., Lyssenko R., Mussagaliev D., Beyar R., Hoffman A., Karram T., Kerner A., Nikolsky E., Nitecki S., Andonova S., Bachvarov C., Petrov V., Cvjetko I., Vidjak V., Haluzan D., Petrunic M., Liu B., Liu C.-W., Bartko D., Beno P., Rusnak F., Zelenak K., Ezura M., Inoue T., Kimura N., Kondo R., Matsumoto Y., Shimizu H., Endo H., Furui E., Bakke S., Krohg-Sorensen K., Nome T., Skjelland M., Tennoe B., Albuquerque e Castro J., Alves G., Bastos Goncalves F., de Aragao Morais J., Garcia A.C., Valentim H., Vasconcelos L., Belcastro F., Cura F., Zaefferer P., Abd-Allah F., Eldessoki M.H., Heshmat Kassem H., Soliman Gharieb H., Colgan M.P., Haider S.N., Harbison J., Madhavan P., Moore D., Shanik G., Kazan V., Nazzal M., Ramsey-Williams V., and Gargiulo M

Subjects
Male, medicine.medical_specialty, Time Factors, Time Factor, medicine.medical_treatment, Carotid Stenosi, MEDLINE, Carotid endarterectomy, Rate ratio, Risk Assessment, Asymptomatic, law.invention, Randomized controlled trial, law, Risk Factors, carotid artery stenting (CAS), carotid endarterectomy (CEA), Stent, medicine, Humans, Carotid Stenosis, Stroke, Endarterectomy, Aged, Endarterectomy, Carotid, business.industry, carotid artery, Risk Factor, Articles, General Medicine, trial, medicine.disease, Settore MED/22 - CHIRURGIA VASCOLARE, Surgery, Stenosis, Treatment Outcome, Settore MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Female, Stents, Human medicine, medicine.symptom, business, Human
Abstract

Summary Background Among asymptomatic patients with severe carotid artery stenosis but no recent stroke or transient cerebral ischaemia, either carotid artery stenting (CAS) or carotid endarterectomy (CEA) can restore patency and reduce long-term stroke risks. However, from recent national registry data, each option causes about 1% procedural risk of disabling stroke or death. Comparison of their long-term protective effects requires large-scale randomised evidence. Methods ACST-2 is an international multicentre randomised trial of CAS versus CEA among asymptomatic patients with severe stenosis thought to require intervention, interpreted with all other relevant trials. Patients were eligible if they had severe unilateral or bilateral carotid artery stenosis and both doctor and patient agreed that a carotid procedure should be undertaken, but they were substantially uncertain which one to choose. Patients were randomly allocated to CAS or CEA and followed up at 1 month and then annually, for a mean 5 years. Procedural events were those within 30 days of the intervention. Intention-to-treat analyses are provided. Analyses including procedural hazards use tabular methods. Analyses and meta-analyses of non-procedural strokes use Kaplan-Meier and log-rank methods. The trial is registered with the ISRCTN registry, ISRCTN21144362. Findings Between Jan 15, 2008, and Dec 31, 2020, 3625 patients in 130 centres were randomly allocated, 1811 to CAS and 1814 to CEA, with good compliance, good medical therapy and a mean 5 years of follow-up. Overall, 1% had disabling stroke or death procedurally (15 allocated to CAS and 18 to CEA) and 2% had non-disabling procedural stroke (48 allocated to CAS and 29 to CEA). Kaplan-Meier estimates of 5-year non-procedural stroke were 2·5% in each group for fatal or disabling stroke, and 5·3% with CAS versus 4·5% with CEA for any stroke (rate ratio [RR] 1·16, 95% CI 0·86–1·57; p=0·33). Combining RRs for any non-procedural stroke in all CAS versus CEA trials, the RR was similar in symptomatic and asymptomatic patients (overall RR 1·11, 95% CI 0·91–1·32; p=0·21). Interpretation Serious complications are similarly uncommon after competent CAS and CEA, and the long-term effects of these two carotid artery procedures on fatal or disabling stroke are comparable. Funding UK Medical Research Council and Health Technology Assessment Programme.

Published
2021

7. OMICS technologies and personalized vaccination in the COVID-19 era

Author

Vassilios Fanos, Melania Puddu, and Michele Mussap

Subjects
covid-19, Medicine, vaccines, metabolomics, Pediatrics, personalization, RJ1-570, omics
Abstract

The effectiveness of SARS-CoV-2 vaccines is currently undermined by the rapid spread of variants of concern affecting an increasing number of people worldwide. Thus, new vaccine candidates are required to limit new waves of infections. On the one hand, the development of personalized vaccines, both on a personal and population level, may overcome the inter-individual heterogeneity in vaccine-induced immune responses and in adverse side effects. On the other hand, the development of a universal coronaviruses vaccine broadly protective against all betacoronaviruses may overcome the coronaviruses genetic polymorphism due to the generation of new genomes and homologous genetic recombination in multiple species. The preparation of a tailored and universal vaccine, that is an “ideal” vaccine, could be realized with the contribution of the system biology approach and, in particular, of metabolomics, in conjunction with a global policy strategy and adequate public governance.

Published
2022

8. Alexithymia in parents and adolescents with generalised anxiety disorder

Author

Simonetta Gentile, Alessia Puddu, Vincenzo Di Ciommo, Michela Di Trani, Santino Gaudio, Antonios Dakanalis, Maria Francesca Paniccia, Paniccia, M, Gaudio, S, Puddu, A, Di Trani, M, Dakanalis, A, Gentile, S, and Di Ciommo, V

Subjects
endocrine system, medicine.medical_specialty, Adolescence, Alexithymia, Generalised anxiety disorder, Parents, endocrine system diseases, generalised anxiety disorder, nutritional and metabolic diseases, medicine.disease, 030227 psychiatry, parent, 03 medical and health sciences, Clinical Psychology, 0302 clinical medicine, Alexithymia, Generalised anxiety disorder, medicine, adolescence, alexithymia, parents, clinical psychology, Psychology, Psychiatry, 030217 neurology & neurosurgery
Abstract

Background: The relationship between generalised anxiety disorder (GAD) and alexithymia has been poorly studied in adolescents. The present study examined the alexithymia levels in adolescents with GAD and their parents compared with healthy control participants (adolescents and their parents). Method: The sample included 300 participants: 50 adolescents with GAD and 50 healthy adolescents, 13–18 years of age, and their 200 parents (100 mothers and 100 fathers). The Schedule for Affective Disorders and Schizophrenia for School-Age Children was performed to evaluate adolescents’ mental health while the 20-item Toronto Alexithymia Scale was performed to assess alexithymia levels in both adolescents and their parents. Results: Adolescents with GAD showed a significantly higher rate of alexithymia when compared with control adolescents. The mothers of adolescents with GAD showed an alexithymia score higher than did the controls’ mothers. The fathers of the two groups showed no differences of in their rate of alexithymia. Moreover, in the clinical sample, adolescent and maternal alexithymia scores were not correlated, while significant directed correlations were found between these adolescents and their own fathers. Conclusions: Our findings show an association between GAD and alexithymia in adolescents. A significant presence of alexithymic traits in the mothers of the patients with GAD was shown. An intergenerational transmission of alexithymia could be supposed but this cannot be a linear mechanism. The assessment of alexithymia in adolescents with psychological disorders, and in their parents, could be useful to plan a more targeted therapeutic approach.

Published
2018

9. Experiencing Homelessness in the Time of COVID-19

Author

Cynthia Puddu

Subjects
2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Medicine, business, Virology
Published
2020

10. Association of serum cholesterol with coronary heart disease mortality during 50-year follow-up in ten cohorts of the seven countries study

Author

Anthony Kafatos, Alessandro Menotti, Paolo Emilio Puddu, Hanna Tolonen, and Hisashi Adachi

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Coronary Disease, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Risk Assessment, 03 medical and health sciences, chemistry.chemical_compound, Chd mortality, 0302 clinical medicine, Japan, Risk Factors, Seven Countries Study, Internal medicine, Humans, Medicine, Serum cholesterol, Dyslipidemias, Nutrition and Dietetics, Cholesterol Measurement, Proportional hazards model, business.industry, Cholesterol, Middle Aged, Prognosis, Individual level, United States, Coronary heart disease, Europe, chemistry, Cardiology and Cardiovascular Medicine, business, Biomarkers, Follow-Up Studies
Abstract

Background and aim The association of serum cholesterol levels with the occurrence of coronary heart disease (CHD) mortality during a follow-up of 50 years was rarely investigated previously. Thus, we took advantage of results at hand in 10 pooled cohorts of men aged 40–59 years from the Seven Countries Study (9063 individuals and 2057 CHD fatal events) and we assessed this. Methods and results Cox proportional hazards models were run with CHD fatal events (as dependent variable) and cholesterol levels (as independent variables) at years 0, 10, and 25 (in 5 cohorts). Cumulative events during subsequent decades (cumulative approach: CA) and separately in each subsequent decade (partitioned approach: PA) were analyzed. The ecological correlation of average baseline serum cholesterol levels with CHD mortality was very high (R = 0.97). Serum cholesterol and CHD mortality for 50 years were associated at the individual level, and the association estimated by the Cox's coefficients (and related hazards ratios) was initially strong in both CA and PA, but slightly declined during later decades. Hazards ratios (for a difference of 40 mg/dl) ranged from 1.39 to 1.20 for CA and from 1.39 to 0.80 for PA. Coefficients were larger for CA than for PA and the decline was more evident for the latter. Partitioned coefficient became negative and significant in the last decade (from year 40–50). Coefficients derived from cholesterol levels measured at year 10 of follow-up showed similar trends but their magnitude was smaller. Conclusion Thus, the relationship of serum cholesterol levels with CHD mortality remained relatively stable during at least 40 years after a single cholesterol measurement at baseline in middle-aged men.

Published
2020

11. The Human Breast Milk Metabolome in Preeclampsia, Gestational Diabetes, and Intrauterine Growth Restriction: Implications for Child Growth and Development

Author

Vassilios Fanos, Melania Puddu, and Flaminia Bardanzellu

Subjects
medicine.medical_specialty, Breastfeeding, MEDLINE, Intrauterine growth restriction, Preeclampsia, Child Development, Metabolomics, Pre-Eclampsia, Pregnancy, Metabolome, Humans, Medicine, Child growth, Fetal Growth Retardation, Milk, Human, business.industry, Obstetrics, Infant, medicine.disease, Gestational diabetes, Diabetes, Gestational, Breast Feeding, Pediatrics, Perinatology and Child Health, Female, business
Published
2020

12. Association of patient-reported outcomes and heart rate trends in heart failure: a report from the Chiron project

Author

Paolo Emilio Puddu, Pietro Fedele Calvisi, Michele Schiariti, Luca Monzo, Mitja Luštrek, and Silvio Bonfiglio

Subjects
Male, medicine.medical_specialty, education, lcsh:Medicine, 030204 cardiovascular system & hematology, QT interval, Article, 03 medical and health sciences, QRS complex, Electrocardiography, 0302 clinical medicine, Heart Rate, Internal medicine, Heart rate, medicine, Humans, 030212 general & internal medicine, Patient Reported Outcome Measures, lcsh:Science, Aged, Cardiac device therapy, Heart Failure, Multidisciplinary, medicine.diagnostic_test, business.industry, aged, electrocardiography, female, heart failure, heart rate, humans, male, middle aged, prognosis, reproducibility of results, stroke volume, patient reported outcome measures, lcsh:R, Reproducibility of Results, Stroke Volume, Stroke volume, Middle Aged, medicine.disease, Prognosis, humanities, 3. Good health, Heart failure, Etiology, Cardiology, Observational study, Female, lcsh:Q, business, Biotechnology
Abstract

Patient-reported outcomes (PROs) have been previously considered “soft” end-points because of the lack of association of the reported outcome to measurable biological parameters. The present study aimed to assess whether electrocardiographic measures are associated to PROs changes. We evaluated the association between heart rate (HR), QRS and QT/QTc durations and PROs, classified as “good” or “bad” according to the patients’ overall feeling of health, in patients from the Chiron project. Twenty-four chronic heart failure (HF) patients were enrolled in the study (71% male, mean age 62.9 ± 9.4 years, 42% ischemic etiology, 15 NYHA class II and 9 class III) providing 1086 days of usable physiological recordings (4 hours/day). The mean HR was significantly higher in the “bad” than in the “good” PROs class (74.0 ± 6.4 bpm vs 68.0 ± 7.2 bpm; p

Published
2020

13. Innesto di cellule mesenchimali su membrana nel trattamento delle patologie cartilaginee della tibio-tarsica

Author

Domenico Mercurio, Leonardo Puddu, Alessandro Santandrea, and Fabrizio Cortese

Subjects
030222 orthopedics, medicine.medical_specialty, business.industry, 030229 sport sciences, Iliac crest, Hyperintensity, Rheumatology, Lesion, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Subchondral bone, Internal medicine, Orthopedic surgery, medicine, Implant, Ankle, medicine.symptom, business, Nuclear medicine
Abstract

Osteochondral lesions of the ankle are very common, the talus being the second most frequent site after the knee, and their treatment depends on the lesion site, width and depth. According to the Giannini classification as lesion type II (width larger than 1.5 cm2 and depth lower than 15 mm), the suggested treatment is through mesenchymal stem cell implant on collagen membrane. The surgical technique consists in arthroscopic assessment of the lesion, mesenchymal stem cell harvesting from the iliac crest, processing of the cells on the lesion site and implant on collagen membrane (IOR G1 technique), which may be performed arthroscopically or through the mini-open technique. The authors report their experience with this procedure on 36 cases over four years. All patients have been evaluated pre- and postoperatively using the AOFAS and VAS scales. MRI was performed preoperatively and at 6, 12 and 24 months postoperatively, using T1 and T2-weighted FSE sequences. Eighteen cases were evaluated with a minimum follow-up of 24 months both clinically and through MRI; in three cases, an arthroscopic second look was performed. In all cases, AOFAS and VAS scores improved significantly, MRI scans showed filling of chondral defects in 83% of cases at 24-month follow-up, although in 30% of MRI scans subchondral bone hyperintensity was still present. In spite of these findings, the technique proved to be effective in improving the clinical and radiological outcomes in most cases.

Published
2019

14. Repeatability and reproducibility of deep-learning-based liver volume and Couinaud segment volume measurement tool

Author

Anthony Puddu, Hildo J. Lamb, Angela Barone, Ged Ridgway, Rajarshi Banerjee, Matt Kelly, Amirkasra Mojtahed, Carlos Ferreira, John Connell, Zobair Arya, J. Michael Brady, Luis Núñez, Mariana Marieiro, Rowan C. Nicholls, Alessandro Fichera, and Felipe Caseiro-Alves

Subjects
Accuracy and precision, Cirrhosis, Urology, medicine.medical_treatment, Liver volume, Deep Learning, Couinaud Segment, medicine, Humans, Hepatectomy, Radiology, Nuclear Medicine and imaging, Observer Variation, Reproducibility, Radiological and Ultrasound Technology, Liver resection, business.industry, Gastroenterology, Reproducibility of Results, Repeatability, Hepatic function, medicine.disease, Magnetic Resonance Imaging, Liver, Hepatobiliary, business, Nuclear medicine, Couinaud, Volume (compression), Post-hepatectomy liver failure
Abstract

Purpose Volumetric and health assessment of the liver is crucial to avoid poor post-operative outcomes following liver resection surgery. No current methods allow for concurrent and accurate measurement of both Couinaud segmental volumes for future liver remnant estimation and liver health using non-invasive imaging. In this study, we demonstrate the accuracy and precision of segmental volume measurements using new medical software, Hepatica™. Methods MRI scans from 48 volunteers from three previous studies were used in this analysis. Measurements obtained from Hepatica™ were compared with OsiriX. Time required per case with each software was also compared. The performance of technicians and experienced radiologists as well as the repeatability and reproducibility were compared using Bland–Altman plots and limits of agreement. Results High levels of agreement and lower inter-operator variability for liver volume measurements were shown between Hepatica™ and existing methods for liver volumetry (mean Dice score 0.947 ± 0.010). A high consistency between technicians and experienced radiologists using the device for volumetry was shown (± 3.5% of total liver volume) as well as low inter-observer and intra-observer variability. Tight limits of agreement were shown between repeated Couinaud segment volume (+ 3.4% of whole liver), segmental liver fibroinflammation and segmental liver fat measurements in the same participant on the same scanner and between different scanners. An underestimation of whole-liver volume was observed between three non-reference scanners. Conclusion Hepatica™ produces accurate and precise whole-liver and Couinaud segment volume and liver tissue characteristic measurements. Measurements are consistent between trained technicians and experienced radiologists. Graphic abstract

Published
2021

15. Mutagenic mechanisms of cancer-associated DNA polymerase ε alleles

Author

Stephen P. Jackson, Fabio Puddu, Mareike Herzog, Elisa Alonso-Perez, Israel Salguero, Jonas Warringer, David J. Adams, Jackson, Stephen [0000-0001-9317-7937], Puddu, Fabio [0000-0002-2033-5209], and Apollo - University of Cambridge Repository

Subjects
DNA Replication, Exonuclease, Mutation rate, Saccharomyces cerevisiae Proteins, AcademicSubjects/SCI00010, DNA polymerase, Mutant, Saccharomyces cerevisiae, Genome Integrity, Repair and Replication, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Mutation Rate, Genetics, medicine, Humans, Poly-ADP-Ribose Binding Proteins, Polymerase, 030304 developmental biology, 0303 health sciences, Mutation, biology, Mutagenesis, DNA replication, DNA Polymerase II, biology.protein, Proofreading, Primer (molecular biology), Colorectal Neoplasms, 030217 neurology & neurosurgery
Abstract

A single amino acid residue change in the exonuclease domain of human DNA polymerase ε, P286R, is associated with the development of colorectal cancers, and has been shown to impart a mutagenic phenotype. Perhaps unexpectedly, the corresponding Pol ε allele in the yeastSaccharomyces cerevisiae(pol2-P301R), was found to drive greater mutagenesis than exonuclease-deficient Pol ε (pol2-4), a phenotype sometimes termedultra-mutagenesis. By studying the impact on mutation frequency, type, replication-strand bias, and sequence context, we show thatultra-mutagenesis is commonly observed in cells carrying a range of cancer-associated Pol ε exonuclease domain alleles. Similarities between mutations generated by these alleles and those generated inpol2-4cells indicate a shared mechanism of mutagenesis that yields a mutation pattern similar to cancer Signature 14. Comparison ofPOL2 ultra-mutator withpol2-M644G, a mutant in the polymerase domain decreasing Pol ε fidelity, revealed unexpected analogies in the sequence context and strand bias of mutations. Analysis of mutational patterns unique to exonuclease domain mutant cells suggests that backtracking of the polymerase, when the mismatched primer end cannot be accommodated in the proofreading domain, results in the observed increase in insertions and T>A mutations in specific sequence contexts.

Published
2020

16. Trajectory and uniqueness of mutational signatures in yeast mutators

Author

Fabio Puddu, Mareike Herzog, Sophie Loeillet, Stephen P. Jackson, Patricia Legoix, Alain Nicolas, Sylvain Baulande, Dynamique de l'information génétique : bases fondamentales et cancer (DIG CANCER), Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Sorbonne Université (SU), Wellcome Trust/Cancer Research UK Gurdon Institute, University of Cambridge [UK] (CAM), Institut Curie [Paris], Loeillet, Sophie [0000-0002-5613-3000], Herzog, Mareike [0000-0001-9747-2327], Puddu, Fabio [0000-0002-2033-5209], Baulande, Sylvain [0000-0003-3104-1684], Jackson, Stephen P [0000-0001-9317-7937], and Apollo - University of Cambridge Repository

Subjects
Saccharomyces cerevisiae Proteins, Lineage (genetic), Carcinogenesis, Flap Endonucleases, RAD51, Breast Neoplasms, DNA-Directed DNA Polymerase, Saccharomyces cerevisiae, Biology, medicine.disease_cause, Somatic evolution in cancer, Genome, DNA sequencing, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Acetyltransferases, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Humans, mutator genes, dynamics of mutation accumulation, Gene, Pol zeta, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, 030304 developmental biology, mutational profiles, BRCA2 Protein, 0303 health sciences, Multidisciplinary, Whole Genome Sequencing, BRCA1 Protein, Membrane Proteins, Peroxiredoxins, Biological Sciences, Diploidy, 3. Good health, Mutation, Female, loss of heterozygosity, Rad51 Recombinase, Genome, Fungal, 030217 neurology & neurosurgery, DNA Damage
Abstract

Significance Deficiencies in genome maintenance genes result in increased mutagenesis and genome rearrangements that impact cell viability, species adaptation, and evolvability. The accumulation of somatic mutations is also a landmark of most tumor cells but it remains difficult to retrospectively determine their mechanistic origin(s). Here, we conducted a prospective reciprocal approach to inactivate evolutionary conserved genes involved in various genome maintenance processes and characterize de novo mutations in diploid S. cerevisiae mutation accumulation lines. Our results revealed the diversity, trajectory, complexity, and ultimate uniqueness of the clonal mutational landscapes. Some mutational signatures resemble those found in human tumors., The acquisition of mutations plays critical roles in adaptation, evolution, senescence, and tumorigenesis. Massive genome sequencing has allowed extraction of specific features of many mutational landscapes but it remains difficult to retrospectively determine the mechanistic origin(s), selective forces, and trajectories of transient or persistent mutations and genome rearrangements. Here, we conducted a prospective reciprocal approach to inactivate 13 single or multiple evolutionary conserved genes involved in distinct genome maintenance processes and characterize de novo mutations in 274 diploid Saccharomyces cerevisiae mutation accumulation lines. This approach revealed the diversity, complexity, and ultimate uniqueness of mutational landscapes, differently composed of base substitutions, small insertions/deletions (InDels), structural variants, and/or ploidy variations. Several landscapes parallel the repertoire of mutational signatures in human cancers while others are either novel or composites of subsignatures resulting from distinct DNA damage lesions. Notably, the increase of base substitutions in the homologous recombination-deficient Rad51 mutant, specifically dependent on the Polζ translesion polymerase, yields COSMIC signature 3 observed in BRCA1/BRCA2-mutant breast cancer tumors. Furthermore, “mutome” analyses in highly polymorphic diploids and single-cell bottleneck lineages revealed a diverse spectrum of loss-of-heterozygosity (LOH) signatures characterized by interstitial and terminal chromosomal events resulting from interhomolog mitotic cross-overs. Following the appearance of heterozygous mutations, the strong stimulation of LOHs in the rad27/FEN1 and tsa1/PRDX1 backgrounds leads to fixation of homozygous mutations or their loss along the lineage. Overall, these mutomes and their trajectories provide a mechanistic framework to understand the origin and dynamics of genome variations that accumulate during clonal evolution.

Published
2020

17. Statin Treatment May Play a Key Role in the Prevention of Dementia: A Review of the Literature

Author

Giovanni M. Puddu, Chiara Bandinelli, Marco Zoli, Luca Spinardi, Giampaolo Bianchi, and Chiara Bandinelli, Giovanni Maria Puddu, Luca Spinardi, Giampaolo Bianchi, Marco Zoli

Subjects
medicine.medical_specialty, business.industry, mental disorders, medicine, Key (cryptography), Statin treatment, Intensive care medicine, business, Prevention of dementia, statin prevention dementia
Abstract

Dementiais characterized by cognitive decline and deterioration of daily function, often with behavioral disturbances. Degenerative dementia includes many sub groups like Alzheimer's disease (AD), frontotemporal dementia, etc, and nondegenerative dementia mainly encompasses vascular dementia, traumatic brain dementia, and so on. Alzheimer's disease is the most common dementia in the elderly, accounting for 60% of cases(1). There is n't specific therapy for degenerative dementia, only symptomatic treatment.

Published
2020

18. Usefulness of the ACTEL Score to Predict Atrial Fibrillation in Patients with Cryptogenic Stroke

Author

Marco Pastore Trossello, Antonio Muscari, Pietro Barone, Marco Ghinelli, Luca Spinardi, Marco Zoli, Giovanni M. Puddu, Luca Faccioli, Muscari A., Barone P., Faccioli L., Ghinelli M., Pastore Trossello M., Puddu G.M., Spinardi L., and Zoli M.

Subjects
Male, medicine.medical_specialty, Logistic Model, Echocardiogram, Context (language use), Predictive Value of Test, Cryptogenic stroke, 030204 cardiovascular system & hematology, Risk Assessment, Severity of Illness Index, Brain Ischemia, Diagnosis, Differential, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Predictive Value of Tests, Risk Factors, Retrospective Studie, Internal medicine, Severity of illness, medicine, Humans, Pharmacology (medical), Stroke, Retrospective Studies, Aged, Aged, 80 and over, medicine.diagnostic_test, Receiver operating characteristic, business.industry, Risk Factor, Score, Atrial fibrillation, Retrospective cohort study, Middle Aged, medicine.disease, Logistic Models, ROC Curve, Echocardiography, Predictive value of tests, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery, Human
Abstract

Introduction: To assess the probability of undetected atrial fibrillation (AF) in patients with ischemic stroke, we previously compared patients who were first diagnosed with AF with patients with large or small artery disease and obtained the MrWALLETS 8-item scoring system. In the present study, we utilized cryptogenic strokes (CS) as the control group, as AF is normally sought among CS patients. Methods: We retrospectively examined 191 ischemic stroke patients (72.5 ± 12.6 years), 68 with first diagnosed AF and 123 with CS, who had undergone 2 brain CT scans, echocardiography, carotid/vertebral ultrasound, continuous electrocardiogram monitoring and anamnestic/laboratory search for cardiovascular risk factors. Results: In logistic regression, 5 variables were independently associated with AF, forming the “ACTEL” score: Age ≥75 years (OR 2.42, 95% CI 1.18–4.96, p = 0.02; +1 point); hyperCholesterolemia (OR 0.38, 95% CI 0.18–0.78, p = 0.009; –1 point); Tricuspid regurgitation ≥ mild-to-moderate (OR 4.99, 95% CI 1.63–15.27, p = 0.005; +1 point); left ventricular End-diastolic volume p = 0.0004; +1 point); Left atrium ≥4 cm (OR 4.57, 95% CI 1.97–10.62, p = 0.0004; +1 point). The algebraic sum of these points may range from –1 to +4. For AF identification, the area under the receiver operating characteristic curve was 0.80 (95% CI 0.73–0.87). With a cutoff of ≥2, positive predictive value was 80.8%, specificity 92.7% and sensitivity 55.9%. Conclusions: The ACTEL score, a simplified and improved version of the MrWALLETS score, allows the identification of patients with first diagnosed AF, in the context of CSs, with a high positive predictive value.

Published
2020

19. Venous thromboembolism prevention with low molecular weight heparin may reduce hemorrhagic transformation in acute ischemic stroke

Author

Luca Faccioli, Giovanni M. Puddu, Elena Franchi, Luca Spinardi, Antonio Muscari, Elena Bartoli, Marco Pastore Trossello, Marco Zoli, Muscari A., Bartoli E., Faccioli L., Franchi E., Pastore Trossello M., Puddu G.M., Spinardi L., and Zoli M.

Subjects
medicine.medical_specialty, Neurology, medicine.drug_class, Low molecular weight heparin, Dermatology, Brain Ischemia, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Risk Factors, law, Internal medicine, medicine, Humans, 030212 general & internal medicine, Enoxaparin, Stroke, Brain CT scan, Aged, Cerebral Hemorrhage, Retrospective Studies, Aged, 80 and over, Ischemic stroke, business.industry, Hemorrhagic transformation, Hazard ratio, Retrospective cohort study, Venous Thromboembolism, General Medicine, Odds ratio, Heparin, Low-Molecular-Weight, Middle Aged, medicine.disease, Discontinuation, Psychiatry and Mental health, Cardiology, Neurology (clinical), Low-dose heparin, business, 030217 neurology & neurosurgery
Abstract

Background: Subcutaneous heparin at a prophylactic dose (SHPD) is a rather common treatment in ischemic stroke, but whether it confers an increased risk of hemorrhagic transformation of cerebral infarct (HT) and whether its reduction or discontinuation favors HT regression are presently poorly understood. Methods: Two samples of ischemic stroke patients with a cerebral lesion diameter ≥ 3cm on brain CT scan, admitted over 7years to our stroke unit, were retrospectively examined: (1) patients treated or not treated with SHPD (enoxaparin 4000U/day), with subsequent assessment of possible HT appearance (N = 267, mean age 75.9 ± 12.8years) and (2) patients treated with SHPD, with HT and subsequent reduction/discontinuation or maintenance of the initial dose, and subsequent assessment of HT evolution (N = 116, mean age 75.7 ± 11.1years). HT severity was quantified according to the ECASS study (HT score). Results: In the first sample, after adjustment for age, sex, stroke severity, cerebral lesion diameter, and other possible confounders, SHPD was inversely associated with HT appearance (hazard ratio 0.62, 95% CI 0.39–0.98, P = 0.04). In the second sample, after adjustment for age, sex, stroke severity, cerebral lesion diameter, and initial HT severity, SHPD reduction/discontinuation had an inverse effect on both HT score improvement (odds ratio 0.42, 95% CI 0.18–0.99, P = 0.049) and HT improvement according to neuroradiological reports (odds ratio 0.34, 95% CI 0.14–0.82, P = 0.015). Conclusions: This retrospective study suggests that SHPD may play a protective role in HT appearance and evolution, which requires verification by a randomized clinical trial.

Published
2020

20. Predicting hemorrhagic transformation and its timing from maximum cerebral lesion diameter in nonlacunar ischemic strokes

Author

Maria Vittoria Lega, Luca Faccioli, Antonio Muscari, Marco Masetti, Marco Pastore Trossello, Marco Zoli, Andrea Lorusso, Luca Spinardi, Giovanni M. Puddu, Muscari A., Faccioli L., Lega M.V., Lorusso A., Masetti M., Pastore Trossello M., Puddu G.M., Spinardi L., and Zoli M.

Subjects
Male, medicine.medical_specialty, Prognosi, cerebral lesion diameter, determinant, 050105 experimental psychology, Time-to-Treatment, lcsh:RC321-571, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Hematoma, Cerebral lesion, Retrospective Studie, Edema, Internal medicine, ischemic stroke, medicine, Humans, 0501 psychology and cognitive sciences, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Research, Retrospective Studies, Aged, Cerebral Hemorrhage, oral anticoagulation, business.industry, Proportional hazards model, Ischemic strokes, 05 social sciences, Hazard ratio, Anticoagulant, Anticoagulants, determinants, Retrospective cohort study, hemoglobin, Prognosis, medicine.disease, Confidence interval, hemorrhagic transformation, Disease Progression, Cardiology, Female, medicine.symptom, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery, Human
Abstract

Objectives We performed this retrospective cohort study to establish which factors are mostly indicative of the appearance of hemorrhagic transformation (HT) and of its time course in a sample of nonlacunar ischemic strokes. Materials and Methods In 402 patients with nonlacunar ischemic stroke (75.0 ± 12.7 years, 192 male), clinical, laboratory, and neuroimaging variables obtained during the first 3 days of hospitalization were compared between patients with and without HT at computer tomography scan. Results HT was documented in 129 patients (32.1%), including 36 with parenchymal hematoma (PH), after a median time of 6 days (range 1–27). Many variables were univariately associated with HT, but only 5 of them were confirmed in Cox regression (Hazard Ratio, 95% Confidence Interval): maximum cerebral lesion diameter (CLD) in cm (1.12, 1.06–1.18; p = .0001), hemoglobin in g/dl (1.16, 1.06–1.27; p = .002), blood glucose in mmol/L (1.10, 1.03–1.18; p = .007), prior anticoagulant therapy (1.82, 1.10–3.03; p = .02), and edema with mass effect (1.72, 1.08–2.75; p = .02). Thus, the most significant predictor was CLD. The overall risk of HT was minimum for CLD, In our sample of 402 nonlacunar ischemic strokes, the main predictors of hemorrhagic transformation were as follows: (a) cerebral lesion diameter, (b) blood glucose, (c) prior anticoagulant therapy, (d) cerebral edema with mass effect, (e) hemoglobin concentration. A simple relationship between cerebral lesion diameter and the timing of hemorrhagic transformation has been found, which could be considered in deciding when starting anticoagulation after a cardioembolic stroke.

Published
2019

21. The clinical impact of maternal weight on offspring health: lights and shadows in breast milk metabolome

Author

Vassilios Fanos, Melania Puddu, Flaminia Bardanzellu, and Diego Peroni

Subjects
Milk, Human, Offspring, business.industry, Intrauterine growth restriction, Physiology, Overweight, medicine.disease, Biochemistry, Obesity, Gestational diabetes, Insulin resistance, Breast Feeding, Pregnancy, medicine, Metabolome, Glucose homeostasis, Humans, Female, medicine.symptom, business, Molecular Biology
Abstract

Introduction Pre-pregnancy overweight and obesity, depending on maternal nutrition and metabolic state, can influence fetal, neonatal and long-term offspring health, regarding cardio-metabolic, respiratory, immunological and cognitive outcomes. Thus, maternal weight can act, through mechanisms that are not full understood, on the physiology and metabolism of some fetal organs and tissues, to adapt themselves to the intrauterine environment and nutritional reserves. These effects could occur by modulating gene expression, neonatal microbiome, and through breastfeeding. Areas covered In this paper, we investigated the potential effects of metabolites found altered in breast milk (BM) of overweight/obese mothers, through an extensive review of metabolomics studies, and the potential short- and long-term clinical effects in the offspring, especially regarding overweight, glucose homeostasis, insulin resistance, oxidative stress, infections, immune processes, and neurodevelopment. Expert opinion Metabolomics seems the ideal tool to investigate BM variation depending on maternal or fetal/neonatal factors. In particular, BM metabolome alterations according to maternal conditions were recently pointed out in cases of gestational diabetes, preeclampsia, intrauterine growth restriction and maternal overweight/obesity. In our opinion, even if BM is the food of choice in neonatal nutrition, the deepest comprehension of its composition in overweight/obese mothers could allow targeted supplementation, to improve offspring health and metabolic homeostasis.

Published
2021

22. The Hormetic Effect of Metformin: 'Less Is More'?

Author

Davide Maggi, Alessandra Puddu, Silvia Ravera, Isabella Panfoli, and Nadia Bertola

Subjects
0301 basic medicine, Adipose tissue, Review, medicine.disease_cause, 0302 clinical medicine, hormetic effect, Models, Biology (General), Spectroscopy, diabetes, Chemistry, General Medicine, Metformin, Computer Science Applications, adipose tissue, medicine.anatomical_structure, Organ Specificity, gut, Intracellular, medicine.drug, medicine.medical_specialty, Endothelium, endothelium, QH301-705.5, 030209 endocrinology & metabolism, heart, liver, Models, Biological, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Diabetes, Gut, Heart, Hormetic effect, Liver, MTF, Skeletal muscle, Animals, Hormesis, Humans, Internal medicine, medicine, Physical and Theoretical Chemistry, skeletal muscle, Protein kinase A, QD1-999, Molecular Biology, Organic Chemistry, AMPK, Biological, 030104 developmental biology, Endocrinology, Oxidative stress
Abstract

Metformin (MTF) is the first-line therapy for type 2 diabetes (T2DM). The euglycemic effect of MTF is due to the inhibition of hepatic glucose production. Literature reports that the principal molecular mechanism of MTF is the activation of 5′-AMP-activated protein kinase (AMPK) due to the decrement of ATP intracellular content consequent to the inhibition of Complex I, although this effect is obtained only at millimolar concentrations. Conversely, micromolar MTF seems to activate the mitochondrial electron transport chain, increasing ATP production and limiting oxidative stress. This evidence sustains the idea that MTF exerts a hormetic effect based on its concentration in the target tissue. Therefore, in this review we describe the effects of MTF on T2DM on the principal target organs, such as liver, gut, adipose tissue, endothelium, heart, and skeletal muscle. In particular, data indicate that all organs, except the gut, accumulate MTF in the micromolar range when administered in therapeutic doses, unmasking molecular mechanisms that do not depend on Complex I inhibition.

Published
2021

23. Quantitative MRI T2 Mapping is Able to Assess Tissue Quality After Reparative and Regenerative Treatments of Osteochondral Lesions of the Talus

Author

Leonardo Puddu, Giulio Rizzo, Alessandro Cristoforetti, Francesco Tessarolo, Giandomenico Nollo, Marta Rigoni, Fabrizio Cortese, Sabino Walter Della Sala, and Alessandro Marinetti

Subjects
Cartilage, Articular, Population, 030218 nuclear medicine & medical imaging, Talus, Lesion, 03 medical and health sciences, Arthroscopy, 0302 clinical medicine, ankle, medicine, Humans, Radiology, Nuclear Medicine and imaging, articular cartilage, Prospective Studies, T2 relaxation time, education, Prospective cohort study, Research Articles, education.field_of_study, business.industry, Cartilage, Magnetic Resonance Imaging, Transplantation, Exact test, medicine.anatomical_structure, Musculoskeletal, Fibrocartilage, Ankle, medicine.symptom, Nuclear medicine, business, Research Article
Abstract

Background Quantitative MRI has potential for tissue characterization after reparative and regenerative surgical treatment of osteochondral lesions of the talus (OCLTs). However available data is inconclusive and quantitative sequences can be difficult to implement in real‐time clinical application. Purpose To assess the potential of T2 mapping in discriminating articular tissue characteristics after reparative and regenerative surgery of OCLTs in real‐world clinical settings. Study Type Observational and prospective cohort study. Population 15 OCLT patients who had received either reparative treatment with arthroscopic microfracture surgery (MFS) for a grade I lesion or regenerative treatment with bone marrow derived cell transplantation (BMDCT) for a grade II lesion. Field Strength/Sequence 1.5 T, proton density weighted TSE, T2‐weighted true fast imaging with steady‐state‐free precession and multi‐echo T2 mapping sequences. Assessment Patients were evaluated at a minimum postoperative follow‐up of 24 months. T2 maps of the ankle were generated and the distribution of T2 values was analyzed in manually identified volumes of interest (VOIs) for both treated lesions (TX) and healthy cartilage (CTRL). The amount of fibrocartilage, hyaline‐like and remodeling tissue in TX VOIs was obtained, based on T2 thresholds from CTRL VOIs. Statistical Tests Fisher's exact test for categorical data, nonparametric Mann–Whitney U test for continuous data. The statistical significance level was P 45 msec were considered as representative for fibrocartilage, hyaline‐like and remodeling tissue, respectively. Tissue composition of the two treatment groups was different, with significantly more fibrocartilage (+28%) and less hyaline‐like tissue (−15%) in MFS than in BMDCT treated lesions. No difference in healthy tissue composition was found between the two groups (P = 0.75). Data Conclusions T2 mapping of surgically treated OCLTs can provide quantitative information about the type and amount of newly formed tissue at the lesion site, thereby facilitating surgical follow‐up in a real‐word clinical setting. Level of Evidence 2 Technical Efficacy Stage 3

Published
2021

24. Breast Milk and COVID-19: From Conventional Data to 'Omics' Technologies to Investigate Changes Occurring in SARS-CoV-2 Positive Mothers

Author

Melania Puddu, Vassilios Fanos, and Flaminia Bardanzellu

Subjects
breastfeeding, Health, Toxicology and Mutagenesis, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Breastfeeding, Mothers, Context (language use), Review, SARS-COV-2, Breast milk, Bioinformatics, Antibodies, Viral, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Medicine, Humans, antibodies, Pregnancy Complications, Infectious, skin and connective tissue diseases, Pandemics, innate immunity, 030304 developmental biology, 0303 health sciences, Maternal Transmission, Milk, Human, business.industry, Transmission (medicine), Public Health, Environmental and Occupational Health, Infant, COVID-19, medicine.disease, metabolomics, Infectious Disease Transmission, Vertical, Breast Feeding, breast milk, Female, business, Breast feeding, microbiomics, 030217 neurology & neurosurgery
Abstract

In this context of COVID-19 pandemic, great interest has been aroused by the potential maternal transmission of SARS-CoV-2 by transplacental route, during delivery, and, subsequently, through breastfeeding. Some open questions still remain, especially regarding the possibility of finding viable SARS-CoV-2 in breast milk (BM), although this is not considered a worrying route of transmission. However, in BM, it was pointed out the presence of antibodies against SARS-CoV-2 and other bioactive components that could protect the infant from infection. The aim of our narrative review is to report and discuss the available literature on the detection of anti-SARS-CoV-2 antibodies in BM of COVID-19 positive mothers, and we discussed the unique existing study investigating BM of SARS-CoV-2 positive mothers through metabolomics, and the evidence regarding microbiomics BM variation in COVID-19. Moreover, we tried to correlate metabolomics and microbiomics findings in BM of positive mothers with potential effects on breastfed infants metabolism and health. To our knowledge, this is the first review summarizing the current knowledge on SARS-CoV-2 effects on BM, resuming both “conventional data” (antibodies) and “omics technologies” (metabolomics and microbiomics).

Published
2021

25. Association of Left Ventricular Hypertrophy and Atrial Fibrillation with Hemorrhagic Evolution of Small Vessel Disease

Author

Marco Pastore Trossello, Marco Ghinelli, Antonio Muscari, Giovanni Masetti, Luca Faccioli, Giovanni M. Puddu, Luca Spinardi, and Marco Zoli

Subjects
Male, medicine.medical_specialty, Lacunar stroke, Disease, Left ventricular hypertrophy, Risk Assessment, Ventricular Function, Left, 03 medical and health sciences, 0302 clinical medicine, Heart Rate, Leukoencephalopathies, Predictive Value of Tests, Risk Factors, Internal medicine, Atrial Fibrillation, medicine, Diabetes Mellitus, Prevalence, Humans, cardiovascular diseases, Aged, Cerebral Hemorrhage, Retrospective Studies, Intracerebral hemorrhage, Aged, 80 and over, Ventricular Remodeling, business.industry, Rehabilitation, Smoking, Atrial fibrillation, Retrospective cohort study, Middle Aged, medicine.disease, Prognosis, Hyperintensity, nervous system diseases, Italy, Hypertension, Stroke, Lacunar, Cardiology, Disease Progression, Surgery, Female, Hypertrophy, Left Ventricular, Neurology (clinical), Small vessel, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
Abstract

Cerebral small vessel disease (SVD) is often associated with hypertension and may evolve towards intracerebral hemorrhage (ICH) or lacunar ischemic stroke. However, the factors favoring the evolution towards ICH or lacunar stroke are not well understood.This retrospective study included 326 consecutive patients (71.1±13.2 years, 38% women): 143 with deep ICH and 183 with lacunar lesions (LL)2 cm, which were visible in a deep location on brain CT scan. Among LL patients, 143 had a small-artery occlusion (SAO) stroke according to the TOAST classification. Clinical characteristics plus laboratory and neuroradiological variables of these patients had been prospectively collected and a subgroup underwent echocardiography.In multivariate analysis, ICH patients (97% hypertensive), compared to SAO patients (89% hypertensive), had greater left ventricular wall thickness (LVWT; OR 4.15, 95%CI 1.64-10.53, for those with LVWT ≥ 1.4 cm, 70% of whom were hemorrhagic) and lower prevalence of white matter lesions (OR 0.30, 95%CI 0.13-0.70), ever smokers (OR 0.39, 95%CI 0.18-0.82) and diabetics (OR 0.29, 95% CI 0.10-0.84). Moreover, ICH patients had a greater prevalence of atrial fibrillation than LL patients (OR 3.14, 95%CI 1.11-8.93), and so they were more often anticoagulated.Most SVD patients were hypertensive, but those evolving towards ICH were characterized by organ damage at the cardiac level (increase in LVWT and atrial fibrillation), while those evolving towards lacunar stroke were characterized by a higher prevalence of smokers and diabetics, and by organ damage at the cerebral level (white matter lesions).

Published
2021

27. Sistemi di scarico articolare extra-capsulari del ginocchio: stato dell’arte

Author

Francesco Uboldi, Leonardo Puddu, Federica Denti, Sebastiano Cudoni, and Pietro Zedde

Subjects
musculoskeletal diseases, Orthodontics, 030222 orthopedics, medicine.medical_specialty, Joint compartment, business.industry, medicine.medical_treatment, Biomechanics, 030229 sport sciences, musculoskeletal system, 03 medical and health sciences, 0302 clinical medicine, Angular stability, Orthopedic surgery, medicine, Femur, Tibia, business, Reduction (orthopedic surgery), Early osteoarthritis
Abstract

The treatment of early osteoarthritis of the knee can also be addressed with the use of different techniques that provide for the discharge of the affected joint compartment. Internal extra-articular devices consist of metal or polycarbonate-urethane shock absorbers fixed to the femur and tibia by angular stability plates. Their purpose is to unload the joint and allow for reduction of the intra-articular compressive strength in the first degrees of flexion without modifying its anatomy and biomechanics and, therefore, being reversible. The literature is lacking in medium- and long-term clinical results with the presence of limited case series or case reports with contrasting results that do not provide significant conclusions on their efficacy but highlight some complications. Further studies are needed, as the theory is very promising.

Published
2019

28. Changes in left ventricular repolarization after short-term testosterone replacement therapy in hypogonadal males

Author

Andrea M. Isidori, Gianfranco Piccirillo, Marianna Minnetti, Antonio Aversa, Damiano Magrì, Joachim Alexandre, Riccardo Pofi, Davide Francomano, Gaetana D'Alessandro, Andrea Lenzi, Paolo-Emilio Puddu, and Federica Moscucci

Subjects
androgen, ghypogonadism, QT, sudden cardiac death, testosterone, ventricular repolarization, Male, medicine.medical_specialty, Ventricular Repolarization, Hormone Replacement Therapy, medicine.drug_class, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, QT interval, Ventricular Function, Left, Androgen, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Heart Rate, Internal medicine, Androgen deficiency, Humans, Medicine, Repolarization, Testosterone, Testosterone replacement, business.industry, Hypogonadism, Arrhythmias, Cardiac, Middle Aged, Prognosis, medicine.disease, Ventricular repolarization, Case-Control Studies, 030220 oncology & carcinogenesis, Exercise Test, Cardiology, Original Article, business, Follow-Up Studies
Abstract

Background and aim Evidences suggest that androgen deficiency is associated with sudden cardiac death (SCD). Our purpose was to analyse some electrocardiographic (ECG) markers of repolarization phase in hypogonadal patients either at baseline or after testosterone replacement therapy (TRT). Patients and Methods Baseline and after 6 months of testosterone replacement therapy, 14 hypogonadal patients and 10 age-matched controls underwent a short-term ECG recordings at rest and immediately after a maximal exercise test. The following ECG parameters have been collected: QTe (the interval between the q wave the end of T wave), QTp (the interval between the q wave and the peak of T wave), and Te (the interval between the peak and the end of T wave). Results At baseline, in the hypogonadal patients, corrected QTe and QTp values were longer at rest than in the controls at rest (p < 0.05), whereas, during the recovery phase, only the QTp remained significantly longer (p < 0.05). After TRT, hypogonadal patients showed an improvement only in Te (p < 0.05). Conversely, any difference between hypogonadal patients and control subjects was found with respect to the markers of temporal dispersion of repolarization phases, except for a worse QTp → Te coherence (p = 0.001) obtained during the recovery phase. Conclusions In conclusion, at rest, hypogonadal patients suffer from a stable increase in the myocardial repolarization phase without an increase in its temporal dispersion and, hence, the SCD risk seems to be low.

Published
2019

29. Age at death of major cardiovascular diseases in 13 cohorts

Author

Hisashi Adachi, Alessandro Menotti, Paolo Emilio Puddu, Daan Kromhout, Hanna Tolonen, and Anthony Kafatos

Subjects
Male, Heart disease, 030204 cardiovascular system & hematology, chemistry.chemical_compound, 0302 clinical medicine, Japan, Cause of Death, Medicine, risk factors, ARTERY-DISEASE, 030212 general & internal medicine, Stroke, CHOLESTEROL, Age at death, Age Factors, General Medicine, Middle Aged, COMPETING RISKS, Europe, Survival Rate, Cardiovascular Diseases, Female, Cardiology and Cardiovascular Medicine, Adult, EUROPEAN COHORTS, Risk Assessment, 03 medical and health sciences, Age Distribution, longevity, Seven Countries Study, Humans, CORONARY-HEART-DISEASE, MYOCARDIAL LESIONS, Retrospective Studies, long-term, business.industry, Cholesterol, Proportional hazards model, MORTALITY, prediction, medicine.disease, TRENDS, Blood pressure, chemistry, seven countries study, Etiology, business, Demography, Follow-Up Studies, Forecasting
Abstract

Objectives: To explore age at death (AD) for major cardiovascular diseases (CVD) and their risk factors in originally middle-aged men followed nearly to extinction in the Seven Countries Study.Materials and methods: Thirteen cohorts of men aged 40-59 years (N= 10,628) in seven countries (USA, Finland, the Netherlands, Italy, Serbia, Greece, Japan) were enrolled in late 1950s and early 1960s and were followed 45 years for mortality. AD was computed for coronary heart disease (CHD), stroke (STR), heart disease of uncertain aetiology (HDUE) and for all-causes. AD was compared across CHD-HDUE-STR. Cox models were computed for each end-point using baseline age, cigarettes smoking, systolic blood pressure and serum cholesterol.Results: After 45 years 92.9% of men had died. The most common CVD death was CHD in most cohorts except some Mediterranean and Japanese cohorts where STR or HDUE were most prevalent. In 13 cohorts mean AD was 74.5, 73.5, 75.7 and 79.1 years, respectively, for all-cause, CHD, STR and HDUE mortality (all possible differences were significant). The difference, across cohorts, between the highest and the lowest mean AD was 12.9, 9.0 and 4.7 years for CHD, HDUE and STR mortality, respectively. Risk factors explored were significant predictors of all three CVD end-points, except serum cholesterol, specific to CHD mortality.Conclusions: AD is a useful indicator of previous health and aging populations. STR and HDUE are diseases appearing later in life, thus being associated with a higher AD compared with CHD mortality.

Published
2019

30. Hypertension induced by serotonin reuptake inhibitors: analysis of two pharmacovigilance databases

Author

Sophie Fedrizzi, Marion Sassier, Sandrine Combret, François Le Bas, Haleh Bagheri, Milou-Daniel Drici, Paolo Emilio Puddu, Joachim Alexandre, Basile Chrétien, and Xavier Humbert

Subjects
Adult, Male, Time Factors, Adolescent, Databases, Factual, Fluvoxamine, Citalopram, computer.software_genre, 030226 pharmacology & pharmacy, Pharmacovigilance, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Odds Ratio, medicine, Adverse Drug Reaction Reporting Systems, Humans, Escitalopram, Pharmacology (medical), Child, Aged, Aged, 80 and over, Pharmacology, Sertraline, Fluoxetine, Database, business.industry, Infant, Newborn, Infant, Odds ratio, Middle Aged, Paroxetine, Child, Preschool, Hypertension, Female, France, business, computer, Selective Serotonin Reuptake Inhibitors, 030217 neurology & neurosurgery, medicine.drug
Abstract

Drug-induced hypertension was described with several pharmacological classes, especially with serotonin reuptake inhibitors (SRIs). However, this link has remained controversial: the French summary of product characteristics specify a risk of hypertension only with paroxetine and sertraline. To identify a possible class effect common to all SRIs, our study investigated the reports of hypertension associated with SRIs in two pharmacovigilance databases. Two different types of investigations were performed: (i) a comparative study in VigiBase® , which is the World Health Organization (WHO) pharmacovigilance database (PVDB), from where notifications of hypertension with six SRIs (citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, sertraline) were extracted. The relationship between the suspected SRIs and the occurrence of hypertension was assessed by calculating reporting odds ratio (ROR) in a case/non-case design; (ii) a descriptive study of hypertension reports associated with SRIs in the French pharmacovigilance database (FPVDB). In VigiBase® , 14 824 notifications of SRI-induced hypertension (2.5%) were identified (mean age 54.3 years, mainly women 69.1%). Among them, 3 879 (26.2%) were associated to sertraline; 3 118 (21.0%) to fluoxetine; 2 725 (18.4%) to paroxetine; 2 570 (17.3%) to citalopram; 2 295 (15.5%) to escitalopram; and 237 (1.6%) to fluvoxamine. A significant ROR value was found with all six SRIs (ROR range from 1.16 to 1.92). In the FPVDB, 24 reports of hypertension were found with all six SRIs used at standard doses, mainly in women (66.7%) with a mean age of 57.8 years and a median time of onset of 6 days. In 10 cases (42%), patients had a history of hypertension. This study, performed in real conditions of life, shows a significant pharmacovigilance safety signal between the use of SRIs and the development or worsening of hypertension.

Published
2019

31. Coronary heart disease mortality trends during 50 years as explained by risk factor changes: The European cohorts of the Seven Countries Study

Author

Daan Kromhout, Hanna Tolonen, Alessandro Menotti, Paolo Emilio Puddu, and Anthony Kafatos

Subjects
Adult, Male, Time Factors, Epidemiology, Blood Pressure, Coronary Artery Disease, 030204 cardiovascular system & hematology, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Seven Countries Study, Cause of Death, Humans, Medicine, 030212 general & internal medicine, Risk factor, Mortality trends, business.industry, Smoking, Middle Aged, Coronary heart disease, Europe, Serum cholesterol measurement, Cholesterol, Heart Disease Risk Factors, Smoking Cessation, Cardiology and Cardiovascular Medicine, business, Biomarkers, Demography
Abstract

Objectives The purpose of this study was to relate risk factor changes during decades with 50-year coronary heart disease mortality in European cohorts of middle-aged men of the Seven Countries Study. Material and methods In the 1950s–early 1960s, nine cohorts of 6518 men aged 40–59 years were examined in five European countries. Smoking habits, systolic blood pressure and serum cholesterol were measured at entry and five times during the next 35 years and a comprehensive Risk Factor Change Score was created. Coronary heart disease mortality data was collected during a 50-year follow-up, modelled by the Weibull distribution, whose shape (Weibull shape) was related to the Risk Factor Change Score by linear regression. Results The Risk Factor Change Score showed slight declines in the Finnish and Dutch cohorts, moderate or large increases in the other cohorts. These effects were related to a decrease of smoking habits in all cohorts, an increase of blood pressure in all cohorts except East Finland, a decrease of serum cholesterol in Finland and the Netherlands, whereas serum cholesterol increases were slight in Italy and large in Serbia and Greece. Weibull distribution shape for coronary heart disease mortality showed slight deceleration in one Finnish and the Dutch cohorts, large acceleration in the Serbian and Greek cohorts. The correlation coefficient of the Risk Factor Change Score versus Weibull shape for the nine cohorts was 0.78 ( R2 = 0.60; p = 0.0132). Conclusions Spontaneous long-term changes of major coronary risk factor levels were associated with changes in the same direction of coronary heart disease mortality risk modelled by the Weibull distribution, expressing a kind of ‘natural experiment’ with an outcome that matches those of controlled preventive trials.

Published
2019

32. A Personal Health System for Self-Management of Congestive Heart Failure (HeartMan)

Author

Erik Dovgan, Mitja Luštrek, Karin Slegers, Aljoša Vodopija, Marko Bohanec, Els Clays, Paolo Emilio Puddu, Carlos Cavero Barca, Miha Mlakar, Jan Derboven, Flavia Marino, Jakob Valič, Gennaro Tartarisco, Juan Mario Rodríguez, Giovanni Pioggia, Amos Adeyemo Dawodu, Jure Lampe, Gašper Slapničar, Michele Schiariti, Maria Costanza Ciancarelli, Delphine De Smedt, and Language, Communication and Cognition

Subjects
medicine.medical_specialty, Decision support system, Technology and Engineering, Remote patient monitoring, Computer applications to medicine. Medical informatics, R858-859.7, Health Informatics, human centered design, 030204 cardiovascular system & hematology, Unified theory of acceptance and use of technology, law.invention, 03 medical and health sciences, 0302 clinical medicine, Health Information Management, Randomized controlled trial, law, medicine, Medicine and Health Sciences, wearable electronic devices, Original Paper, mobile phone, Self-management, decision support techniques, business.industry, mobile application, 030227 psychiatry, Clinical trial, personal health system, Blood pressure, congestive heart failure, Physical therapy, Anxiety, medicine.symptom, business, psychological support
Abstract

BackgroundCongestive heart failure (CHF) is a disease that requires complex management involving multiple medications, exercise, and lifestyle changes. It mainly affects older patients with depression and anxiety, who commonly find management difficult. Existing mobile apps supporting the self-management of CHF have limited features and are inadequately validated.ObjectiveThe HeartMan project aims to develop a personal health system that would comprehensively address CHF self-management by using sensing devices and artificial intelligence methods. This paper presents the design of the system and reports on the accuracy of its patient-monitoring methods, overall effectiveness, and patient perceptions.MethodsA mobile app was developed as the core of the HeartMan system, and the app was connected to a custom wristband and cloud services. The system features machine learning methods for patient monitoring: continuous blood pressure (BP) estimation, physical activity monitoring, and psychological profile recognition. These methods feed a decision support system that provides recommendations on physical health and psychological support. The system was designed using a human-centered methodology involving the patients throughout development. It was evaluated in a proof-of-concept trial with 56 patients.ResultsFairly high accuracy of the patient-monitoring methods was observed. The mean absolute error of BP estimation was 9.0 mm Hg for systolic BP and 7.0 mm Hg for diastolic BP. The accuracy of psychological profile detection was 88.6%. The F-measure for physical activity recognition was 71%. The proof-of-concept clinical trial in 56 patients showed that the HeartMan system significantly improved self-care behavior (P=.02), whereas depression and anxiety rates were significantly reduced (PConclusionsThe HeartMan project combined a range of advanced technologies with human-centered design to develop a complex system that was shown to help patients with CHF. More psychological than physical benefits were observed.Trial RegistrationClinicalTrials.gov NCT03497871; https://clinicaltrials.gov/ct2/history/NCT03497871.International Registered Report Identifier (IRRID)RR2-10.1186/s12872-018-0921-2

Published
2021

33. Melanoma Prevention: Comparison of Different Screening Methods for the Selection of a High Risk Population

Author

Pietro Massei, Grazia Salimbeni, Andrea Nannipieri, Nevio Dubbini, Maurizia Ghilardi, Marco Celli, Stefano Malloggi, Giovanni Menchini, Laura Ricci, Tommaso Rubino, Antonella Romanini, Roberto Gianfaldoni, Giuseppe Ferraùto, Antonella Puddu, Daniele Gandini, and Serena Gianfaldoni

Subjects
Adult, Male, medicine.medical_specialty, Skin Neoplasms, Health, Toxicology and Mutagenesis, Population, lcsh:Medicine, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Screening method, melanoma, Medicine, Humans, Mass Screening, 030212 general & internal medicine, Family history, education, Physical Examination, Selection (genetic algorithm), Secondary prevention, education.field_of_study, business.industry, Melanoma, screening, lcsh:R, Public Health, Environmental and Occupational Health, Limiting, medicine.disease, Risk evaluation, 030220 oncology & carcinogenesis, Female, business, secondary prevention
Abstract

Background: Guidelines recommend limiting melanoma screening in a population with known risk factors, but none indicates methods for efficient recruitment. The purpose of this study is to compare three different methods of recruiting subjects to be screened for melanoma to detect which, if any, is the most efficient. Methods: From 2010 to 2019, subjects were recruited as follows: (1) regular skin examinations (RS), mainly conducted through the Associazione Contro il Melanoma network, (2) occasional melanoma screening (OS), during annual public campaigns, (3) and selective screening (SS), where people were invited to undergo a skin check after filling in a risk evaluation questionnaire, in cases where the assigned outcome was intermediate/high risk. Melanoma risk factors were compared across different screening methods. Generalized Linear Mixed Models were used for multivariable analysis. Results: A total of 2238 subjects (62.7% women) were recruited, median age 44 years (2–85), and 1094 (48.9 %) records were collected through RS, 826 (36.9 %) through OS, and 318 (14.2 %) through SS. A total of 131 suspicious non-melanoma skin cancers were clinically diagnosed, 20 pathologically confirmed, and 2 melanomas detected. SS performed significantly better at selecting subjects with a family history of melanoma and I-II phototypes compared to OS. Conclusions: Prior evaluation of melanoma known risk factors allowed for effective selection of a population to screen at higher risk of developing a melanoma.

Published
2021

34. HeartMan DSS: A decision support system for self-management of congestive heart failure

Author

Aljoša Vodopija, Marko Bohanec, Michele Schiariti, Els Clays, Paolo Emilio Puddu, Sofie Pardaens, Flavia Marino, Giovanni Pioggia, Anneleen Baert, Gennaro Tartarisco, and Mitja Luštrek

Subjects
Congestive heart failure, Decision support system, Personal health system, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Artificial Intelligence, medicine, Web application, 030212 general & internal medicine, Disease management (health), Self-management, business.industry, General Engineering, Physical exercise, medicine.disease, 3. Good health, Computer Science Applications, Variety (cybernetics), Workflow, Anxiety, Decision models, Medical emergency, medicine.symptom, business, Decision model
Abstract

Congestive heart failure is a chronic medical condition that affects about 2 % of the adult population. Even though it cannot be cured, it can be relieved by a proper, long-term, complex and personalized disease management. In this paper we present the HeartMan Decision Support System (DSS), aimed at supporting individual patients in their uptake of well-established clinical guidelines (i.e., both medication and behaviour based) for disease management. The HeartMan DSS is a central component of the wider HeartMan mobile-health platform that employs mobile phones, wristband sensors and a web application for communication with patients, their physicians and caregivers. The DSS itself provides recommendations for (1) managing patient’s physical health in terms of exercise, nutrition, medications and self-monitoring, (2) psychological support, and (3) managing environmental parameters. The DSS employs a variety of methods: rule-based decision models and adaptable workflows developed using literature and in collaboration with medical experts, classification models developed by machine learning from data, and optimization algorithms. Taken together, they provide a comprehensive, personalized and user-friendly disease management platform. The system was evaluated in a clinical proof-or-concept trial, involving 56 patients in four hospitals. The results confirmed that the system was successful in improving self-care behaviour, decreased patients' levels of depression and anxiety, and improved the overall predicted 1-year mortality risk.

Published
2021
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35. In vitro evaluation of bioburden, three-dimensional stability, and accuracy of surgical templates without metallic sleeves after routinely infection control activities

Author

Franco Sanseverino, Chang Joo Park, Antonio Puddu, Rocco Amarena, Marco Tallarico, Aurea Immacolata Lumbau, and Silvio Mario Meloni

Subjects
business.industry, 0206 medical engineering, Dentistry, 030206 dentistry, 02 engineering and technology, Surgical procedures, 020601 biomedical engineering, Steam sterilization, Bioburden, Implant placement, Disinfection, 03 medical and health sciences, 0302 clinical medicine, Template, Surgery, Computer-Assisted, Chlorhexidine gluconate, Infection control, Medicine, Computer-Aided Design, Implant, Oral Surgery, business, General Dentistry, Software
Abstract

BACKGROUND Surgical templates are classified as noncritical devices, and they do not need to be sterile. AIM Primary aim of this study was to assess the microbiological burden present on the surgical templates without metallic sleeves after disinfection. Furthermore, to evaluate trueness after disinfection and steam sterilization at 121°C/15 min, and over a 8-week storage period. Finally, to assess their accuracy after in vitro implant placement simulation. MATERIALS AND METHODS Forty surgical templates were printed and divided in five groups of eight templates each. Groups A to C were disinfected with 0.5% Chlorhexidine Gluconate and 70% ethyl alcohol base solution for 15 min. Templates in the group D were steam sterilized at 121°C for 15 min, while, the templates in the group E were used as control. Implant simulation was performed in the group A. Outcome measures were determination of bioburden, trueness assessment using GOM Inspect Professional software, and accuracy evaluated thought the mean angular deviation of simulated implants. RESULTS Total microbic charge measured as colony forming units (CFU) for sample, was 24.40 in the control group (group E; n = 8), and

Published
2020

36. Homeostatic Left Heart integration and disintegration links atrio-ventricular covariation’s dyshomeostasis in Hypertrophic Cardiomyopathy

Author

Michele Schiariti, Valerio Varano, Luciano Teresi, Concetta Torromeo, Paola Nardinocchi, Stefano Gabriele, Antonietta Evangelista, Giuseppe Esposito, Paolo Piras, Paolo Emilio Puddu, Andrea Madeo, Piras, Paolo, Torromeo, Concetta, Evangelista, Antonietta, Gabriele, Stefano, Esposito, Giuseppe, Nardinocchi, Paola, Teresi, Luciano, Madeo, Andrea, Schiariti, Michele, Varano, Valerio, and Puddu, Paolo Emilio

Subjects
Adult, Male, medicine.medical_specialty, Heartbeat, Heart Ventricles, Science, Left atrium, Cardiomyopathy, 030204 cardiovascular system & hematology, Article, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Heart Rate, Left atrial, Internal medicine, Heart rate, Homeostasis, Humans, Medicine, Heart Atria, Orientation, Spatial, Multidisciplinary, business.industry, Hypertrophic cardiomyopathy, Anatomy, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, medicine.anatomical_structure, Ventricle, Case-Control Studies, Atrioventricular Node, Cardiology, Female, business, speckle-tracking echocardiography, acute myocardial-infarction, ejection fraction, ventricular-function, failure, strain, shape, deformation, mechanics, doppler
Abstract

Left ventricle and left atrium are and have been practically always analyzed separately in common clinically and non-clinically oriented cardiovascular investigations. Both classic and speckle tracking echocardiographic data contributed to the knowledge about deformational impairments occurring in systo-diastolic differences. Recently new trajectory based approaches allowed a greater awareness about the entire left ventricle or left atrium revolution and on their deficiencies that take place in presence of hypertrophic cardiomyopathy. However, surprisingly, the concomitant function of the two left heart chambers has not been analyzed for their geometrical/mechanical relationship. For the first time we study here, by acquiring left ventricle and left atrial geometries on the same heartbeat, the trajectory attributes of the entire left heart treated as a whole shape and the shape covariation of its two subunits. We contrasted healthy subjects with patients affected by hypertrophic cardiomyopathy. We found impaired left heart trajectory mainly in terms of orientation and size. More importantly, we found profound differences in the direction of morphological covariation of left ventricle and left atrium. These findings open to new perspectives in pathophysiological evaluation of different diseases by allowing the appreciation of concomitant functioning of both left heart whole geometry and of its two chambers.

Published
2017

37. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

Subjects
Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
Abstract

© 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Published
2018

38. Major adverse cardiovascular events in non-valvular atrial fibrillation with chronic obstructive pulmonary disease: the ARAPACIS study

Author

Raparelli, Valeria, Pastori, Daniele, Pignataro, Serena Francesca, Vestri, Anna Rita, Pignatelli, Pasquale, Cangemi, Roberto, Proietti, Marco, Davì, Giovanni, Hiatt, William Robert, Lip, Gregory Yoke Hong, Corazza, Gino Roberto, Perticone, Francesco, Violi, Francesco, Basili, Stefania, Alessandri, C., Serviddio, G., Palange, P., Greco, E., Bruno, G., Averna, M., Giammanco, A., Sposito, P., de Cristofaro, R., Carulli, L., de Gennaro, L., Pellegrini, E., Cominacini, L., Mozzini, C., Pasini, A. F., Sprovieri, M., Spagnuolo, V., Cerqua, G., Cerasola, G., Mulé, G., Barbagallo, M., Lo Sciuto, S., Monteverde, A., Saitta, A., Lo Gullo, A., Malatino, L., Cilia, C., Terranova, V., Pisano, M., Pinto, A., Di Raimondo, D., Tuttolomondo, A., Conigliaro, R., Signorelli, S., de Palma, D., Galderisi, M., Cudemo, G., Galletti, F., Fazio, V., de Luca, N., Meccariello, A., Caputo, D., de Donato, M. T., Iannuzi, A., Bresciani, A., Giunta, R., Utili, R., Iorio, V., Adinolfi, L. E., Sellitto, C., Iuliano, N., Bellis, P., Tirelli, P., Sacerdoti, D., Vanni, D., Iuliano, L., Ciacciarelli, M., Pacelli, A., Palazzuoli, A., Cacciafesta, M., Gueli, N., Lo Iacono, C., Brusco, S., Verrusio, W., Nobili, L., Tarquinio, N., Pellegrini, F., Vincentelli, G. M., Ravallese, F., Santini, C., Letizia, C., Petramala, L., Zinnamosca, L., Minisola, S., Cilli, M., Colangelo, L., Falaschi, P., Martocchia, A., Pastore, F., Bertazzoni, G., Attalla El Halabieh, E., Paradiso, M., Lizzi, E. M., Timmi, S., Battisti, P., Cerci, S., Ciavolella, M., Di Veroli, C., Malci, F., de Ciocchis, A., Abate, D., Castellino, P., Zanoli, L., Fidone, F., Mannarino, E., Pasqualini, L., Oliverio, G., Pende, A., Artom, N., Ricchio, R., Fimognari, F. L., Alletto, M., Messina, S., Sesti, G., Arturi, F., Succurro, E., Fiorentino, T. V., Pedace, E., Scarpino, P. E., Carullo, G., Maio, R., Sciacqua, A., Frugiuele, P., Battaglia, G., Atzori, S., Delitala, G., Angelucci, E., Sestili, S., Traisci, G., de Feudis, L., Di Michele, D., Fava, A., Balsano, C., de Ciantis, P., Desideri, G., Camerota, A., Mezzetti, M., Gresele, P., Vedovati, C., Fierro, T., Puccetti, L., Bertolotti, M., Mussi, C., Boddi, M., Savino, A., Contri, S., Degl’Innocenti, G., Saller, A., Fabris, F., Pesavento, R., Filippi, L., Vedovetto, V., Puato, M., Treleani, M., de Luca, E., de Zaiacomo, F., Giantin, V., Semplicini, A., Minuz, P., Romano, S., Fantin, F., Manica, A., Stockner, I., Pattis, P., Gutmann, B., Catena, C., Colussi, G., Sechi, L. A., Annoni, G., Bruni, A. A., Castagna, A., Spinelli, D., Miceli, E., Padula, D., Schinco, G., Spreafico, S., Secchi, B., Vanoli, M., Casella, G., Pulixi, E. A., Sansone, L., Serra, M. G., Longo, S., Antonaci, S., Belfiore, A., Frualdo, M., Palasciano, G., Ricci, L., Ventrella, F., Bianco, C., Santovito, D., Cipollone, F., Nicolai, S., Salvati, F., Rini, G. B., Scozzari, F., Muiesan, M. L., Salvetti, M., Bazza, A., Picardi, A., Vespasiani-Gentilucci, U., de Vincentis, A., Cosio, P., Terzolo, M., Madaffari, B., Parasporo, B., Fenoglio, L., Bracco, C., Melchio, R., Gentili, T., Salvi, A., Nitti, C., Gabrielli, A., Martino, G. P., Capucci, A., Brambatti, M., Sparagna, A., Tirotta, D., Andreozzi, P., Ettorre, E., Viscogliosi, G., Servello, A., Musumeci, M., Delfino, M., Giorgi, A., Glorioso, N., Melis, G., Marras, G., Matta, M., Sacco, A., Stellitano, E., Scordo, A., Russo, F., Caruso, A. A., Porreca, E., Tana, M., Ferri, C., Cheli, P., Portincasa, P., Muscianisi, G., Giordani, S., Stanghellini, V., Sabbà, C., Mancuso, G., Bartone, M., Calipari, D., Arcidiacono, G., Bellanuova, I., Ferraro, M., Marigliano, G., Cozzolino, D., Lampitella, A., Acri, V., Galasso, D., Mazzei, F., Buratti, A., Galasso, S., Porta, M., Brizzi, M. F., Fattorini, A., Sampietro, F., D’Angelo, A., Manfredini, R., Pala, M., Fabbian, F., Moroni, C., Valente, L., Lopreiato, F., Parente, F., Granata, M., Moia, M., Braham, S., Rossi, M., Pesce, M., Gentile, A., Catozzo, V., Baciarello, G., Cosimati, A., Ageno, W., Rancan, E., Guasti, L., Ciccaglioni, A., Negri, S., Polselli, M., Prisco, D., Marcucci, R., Ferro, D., Perri, L., Cangemi, R., Saliola, M., Del Ben, M., Angelico, F., Baratta, F., Migliacci, R., Porciello, G., Corrao, S., Proietti, M., Raparelli, V., Napoleone, L., Talerico, G., Amoroso, D., Romiti, G. F., Ruscio, E., Toriello, F., Sperduti, N., Todisco, T., Di Tanna, G., Sacchetti, M. L., Puddu, P. E., Farcomeni, A., Anzaldi, M., Bazzini, C., Bianchi, P. I., Boari, B., Buonauro, A., Buttà, C., Buzzetti, E., Calabria, S., Capeci, W., Caradio, F., Carleo, P., Carrabba, M. D., Castorani, L., Cecchetto, L., Cicco, S., Cimini, C., Colombo, B. M., de Giorgi, A., de Vuono, S., Del Corso, L., Denegri, A., Di Giosia, P., Durante Mangoni, E., Falsetti, L., Forgione, A., Giorgini, P., Grassi, D., Grembiale, A., Hijazi, D., Iamele, L., Lorusso, G., Marchese, A., Marra, A. M., Masala, M., Miceli, G., Montebianco Abenavoli, L., Murgia, G., Naccarato, P., Pattoneri, P., Perego, F., Pesce, P., Piano, S., Pinna, M., Pinto, D., Pretti, V., Pucci, G., Salinaro, F., Salzano, A., Santilli, F., Scarpini, F., Scicali, R., Sirico, D., Suppressa, P., Talia, M., Tassone, E. J., Torres, D., Vazzana, N., Vecchio, C. R., Vidili, G., Vitale, F., Zaccone, V., ARAPACIS Study Collaborators, Raparelli, V, Pastori, D, Pignataro, S, Vestri, A, Pignatelli, P, Cangemi, R, Proietti, M, Davi, G, Hiatt, W, Lip, G, Corazza, G, Perticone, F, Violi, F, Basili, S, Alessandri, C, Serviddio, G, Palange, P, Greco, E, Bruno, G, Averna, M, Giammanco, A, Sposito, P, Decristofaro, R, Carulli, L, Degennaro, L, Pellegrini, E, Cominacini, L, Mozzini, C, Pasini, A, Sprovieri, M, Spagnuolo, V, Cerqua, G, Cerasola, G, Mule, G, Barbagallo, M, Lo Sciuto, S, Monteverde, A, Saitta, A, Lo Gullo, A, Malatino, L, Cilia, C, Terranova, V, Pisano, M, Pinto, A, Diraimondo, D, Tuttolomondo, A, Conigliaro, R, Signorelli, S, Depalma, D, Galderisi, M, Cudemo, G, Galletti, F, Fazio, V, Deluca, N, Meccariello, A, Caputo, D, Dedonato, M, Iannuzi, A, Bresciani, A, Giunta, R, Utili, R, Iorio, V, Adinolfi, L, Sellitto, C, Iuliano, N, Bellis, P, Tirelli, P, Sacerdoti, D, Vanni, D, Iuliano, L, Ciacciarelli, M, Pacelli, A, Palazzuoli, A, Cacciafesta, M, Gueli, N, Lo Iacono, C, Brusco, S, Verrusio, W, Nobili, L, Tarquinio, N, Pellegrini, F, Vincentelli, G, Ravallese, F, Santini, C, Letizia, C, Petramala, L, Zinnamosca, L, Minisola, S, Cilli, M, Colangelo, L, Falaschi, P, Martocchia, A, Pastore, F, Bertazzoni, G, Attalla El Halabieh, E, Paradiso, M, Lizzi, E, Timmi, S, Battisti, P, Cerci, S, Ciavolella, M, Diveroli, C, Malci, F, Deciocchis, A, Abate, D, Castellino, P, Zanoli, L, Fidone, F, Mannarino, E, Pasqualini, L, Oliverio, G, Pende, A, Artom, N, Ricchio, R, Fimognari, F, Alletto, M, Messina, S, Sesti, G, Arturi, F, Succurro, E, Fiorentino, T, Pedace, E, Scarpino, P, Carullo, G, Maio, R, Sciacqua, A, Frugiuele, P, Battaglia, G, Atzori, S, Delitala, G, Angelucci, E, Sestili, S, Traisci, G, Defeudis, L, Dimichele, D, Fava, A, Balsano, C, Deciantis, P, Desideri, G, Camerota, A, Mezzetti, M, Gresele, P, Vedovati, C, Fierro, T, Puccetti, L, Bertolotti, M, Mussi, C, Boddi, M, Savino, A, Contri, S, Degl'Innocenti, G, Saller, A, Fabris, F, Pesavento, R, Filippi, L, Vedovetto, V, Puato, M, Treleani, M, Deluca, E, Dezaiacomo, F, Giantin, V, Semplicini, A, Minuz, P, Romano, S, Fantin, F, Manica, A, Stockner, I, Pattis, P, Gutmann, B, Catena, C, Colussi, G, Sechi, L, Annoni, G, Bruni, A, Castagna, A, Spinelli, D, Miceli, E, Padula, D, Schinco, G, Spreafico, S, Secchi, B, Vanoli, M, Casella, G, Pulixi, E, Sansone, L, Serra, M, Longo, S, Antonaci, S, Belfiore, A, Frualdo, M, Palasciano, G, Ricci, L, Ventrella, F, Bianco, C, Santovito, D, Cipollone, F, Nicolai, S, Salvati, F, Rini, G, Scozzari, F, Muiesan, M, Salvetti, M, Bazza, A, Picardi, A, Vespasiani-Gentilucci, U, Devincentis, A, Cosio, P, Terzolo, M, Madaffari, B, Parasporo, B, Fenoglio, L, Bracco, C, Melchio, R, Gentili, T, Salvi, A, Nitti, C, Gabrielli, A, Martino, G, Capucci, A, Brambatti, M, Sparagna, A, Tirotta, D, Andreozzi, P, Ettorre, E, Viscogliosi, G, Servello, A, Musumeci, M, Delfino, M, Giorgi, A, Glorioso, N, Melis, G, Marras, G, Matta, M, Sacco, A, Stellitano, E, Scordo, A, Russo, F, Caruso, A, Porreca, E, Tana, M, Ferri, C, Cheli, P, Portincasa, P, Muscianisi, G, Giordani, S, Stanghellini, V, Sabba, C, Mancuso, G, Bartone, M, Calipari, D, Arcidiacono, G, Bellanuova, I, Ferraro, M, Marigliano, G, Cozzolino, D, Lampitella, A, Acri, V, Galasso, D, Mazzei, F, Buratti, A, Galasso, S, Porta, M, Brizzi, M, Fattorini, A, Sampietro, F, D'Angelo, A, Manfredini, R, Pala, M, Fabbian, F, Moroni, C, Valente, L, Lopreiato, F, Parente, F, Granata, M, Moia, M, Braham, S, Rossi, M, Pesce, M, Gentile, A, Catozzo, V, Baciarello, G, Cosimati, A, Ageno, W, Rancan, E, Guasti, L, Ciccaglioni, A, Negri, S, Polselli, M, Prisco, D, Marcucci, R, Ferro, D, Perri, L, Saliola, M, Delben, M, Angelico, F, Baratta, F, Migliacci, R, Porciello, G, Corrao, S, Napoleone, L, Talerico, G, Amoroso, D, Romiti, G, Ruscio, E, Toriello, F, Sperduti, N, Todisco, T, Ditanna, G, Sacchetti, M, Puddu, P, Farcomeni, A, Anzaldi, M, Bazzini, C, Bianchi, P, Boari, B, Buonauro, A, Butta, C, Buzzetti, E, Calabria, S, Capeci, W, Caradio, F, Carleo, P, Carrabba, M, Castorani, L, Cecchetto, L, Cicco, S, Cimini, C, Colombo, B, De Giorgi, A, Devuono, S, Delcorso, L, Denegri, A, Digiosia, P, Durante Mangoni, E, Falsetti, L, Forgione, A, Giorgini, P, Grassi, D, Grembiale, A, Hijazi, D, Iamele, L, Lorusso, G, Marchese, A, Marra, A, Masala, M, Miceli, G, Montebianco Abenavoli, L, Murgia, G, Naccarato, P, Pattoneri, P, Perego, F, Pesce, P, Piano, S, Pinna, M, Pinto, D, Pretti, V, Pucci, G, Salinaro, F, Salzano, A, Santilli, F, Scarpini, F, Scicali, R, Sirico, D, Suppressa, P, Talia, M, Tassone, E, Torres, D, Vazzana, N, Vecchio, C, Vidili, G, Vitale, F, Zaccone, V, Raparelli, V1, Pastori, D1, Pignataro, Sf1, Vestri, Ar2, Pignatelli, P1, Cangemi, R1, Proietti, M3, Davì, G4, Hiatt, Wr5, Lip, Gyh3, Corazza, Gr6, Perticone, F7, Violi, F8, Basili, S1, De Cristofaro, R, De Gennaro, L, Pasini, Af, Mulé, G, Di Raimondo, D, De Palma, D, De Luca, N, De Donato, Mt, Adinolfi, Le, Vincentelli, Gm, Lizzi, Em, Di Veroli, C, De Ciocchis, A, Fimognari, Fl, Fiorentino, Tv, Scarpino, Pe, De Feudis, L, Di Michele, D, De Ciantis, P, De Luca, E, De Zaiacomo, F, Sechi, La, Bruni, Aa, Pulixi, Ea, Serra, Mg, Rini, Gb, Muiesan, Ml, De Vincentis, A, Martino, Gp, Caruso, Aa, Sabbà, C, Brizzi, Mf, Del Ben, M, Romiti, Gf, Di Tanna, G, Sacchetti, Ml, Puddu, Pe, Bianchi, Pi, Buttà, C, Carrabba, Md, Colombo, Bm, De Vuono, S, Del Corso, L, Di Giosia, P, Marra, Am, Tassone, Ej, Vecchio, Cr, Zaccone, V., Pignataro, Sf, Vestri, Ar, Davì, G, Hiatt, Wr, Lip, Gyh, Corazza, Gr, Raparelli, Valeria, Pastori, Daniele, Pignataro, Serena Francesca, Vestri, Anna Rita, Pignatelli, Pasquale, Cangemi, Roberto, Proietti, Marco, Davì, Giovanni, Hiatt, William Robert, Lip, Gregory Yoke Hong, Corazza, Gino Roberto, Perticone, Francesco, Violi, Francesco, Basili, Stefania, Alessandri C., Serviddio G., Palange P., Greco E., Bruno G., Averna M., Giammanco A., Sposito P., De Cristofaro R., Carulli L., De Gennaro L., Pellegrini E. Cominacini L., Mozzini C., Pasini A.F., Sprovieri M., Spagnuolo V., Cerqua G., Cerasola G., Mulé G., Barbagallo M., Lo Sciuto S., Monteverde A., Saitta A., Lo Gullo A., Malatino L., Cilia C., Terranova V., Pisano M., Pinto A., Di Raimondo D., Tuttolomondo A., Conigliaro R., Signorelli S., De Palma D., Galderisi M., Cudemo G., Galletti F., Fazio V., De Luca N., Meccariello A., Caputo D., De Donato M. T., Iannuzi A., Bresciani A., Giunta R., Utili R., Iorio V., Adinolfi L.E., Sellitto C., Iuliano N., Bellis P., Tirelli P., Sacerdoti D., Vanni D., Iuliano L., Ciacciarelli M., Pacelli A., Palazzuoli A., Cacciafesta M., Gueli N., Lo Iacono C., Brusco S., Verrusio W., Nobili L., Tarquinio N., Pellegrini F., Vincentelli G.M., Ravallese F., Santini C., Letizia C., Petramala L., Zinnamosca L., Minisola S., Cilli M., Colangelo L., Falaschi P., Martocchia A., Pastore F., Bertazzoni G., Attalla El Halabieh E., Paradiso M., Lizzi E.M., Timmi S., Battisti P., Cerci S., Ciavolella M., Di Veroli C., Malci F., De Ciocchis A., Abate D., Castellino P., Zanoli L., Fidone F., Mannarino E., Pasqualini L., Oliverio G., Pende A., Artom N., Ricchio R., Fimognari F.L., Alletto M., Messina S., Sesti G., Arturi F., Succurro E, Fiorentino T.V., Pedace E., Scarpino P.E., Carullo G., Maio R., Sciacqua A., Frugiuele P., Spagnuolo V., Battaglia G., Atzori S., Delitala G., Angelucci E., Sestili S., Traisci G., De Feudis L., Di Michele D., Fava A., Balsano C., De Ciantis P., Desideri G., Camerota A., Mezzetti M., Gresele P., Vedovati C., Fierro T., Puccetti L., Bertolotti M., Mussi C., Boddi M., Savino A., Contri S., Degl’Innocenti G., Saller A., Fabris F., Pesavento R., Filippi L., Vedovetto V., Puato M., Fabris F., Treleani M., De Luca E., De Zaiacomo F., Giantin V., Semplicini A., Minuz P., Romano S., Fantin F., Manica A., Stockner I., Pattis P., Gutmann B., Catena C., Colussi G., Sechi L.A., Annoni G., Bruni A.A., Castagna A., Spinelli D., Miceli E., Padula D., Schinco G., Spreafico S., Secchi B., Vanoli M., Casella G., Pulixi E.A., Sansone L., Serra M.G., Longo S., Antonaci S., Belfiore A., Frualdo M., Palasciano G., Ricci L., Ventrella F., Bianco C., Santovito D., Cipollone F., Nicolai S., Salvati F., Rini G. B., Scozzari F., Muiesan M.L., Salvetti M., Bazza A., Picardi A., Vespasiani-Gentilucci U., De Vincentis A., Cosio P., Terzolo M., Madaffari B., Parasporo B., Fenoglio L., Bracco C., Melchio R., Gentili T., Salvi A., Nitti C., Gabrielli A., Martino G.P., Capucci A., Brambatti M., Sparagna A., Tirotta D., Andreozzi P., Ettorre E., Viscogliosi G., Servello A., Musumeci M., Delfino M., Giorgi A., Glorioso N., Melis G., Marras G., Matta M., Sacco A., Stellitano E., Scordo A., Russo F., Caruso A.A., Porreca E., Tana M., Ferri C., Cheli P., Portincasa P., Muscianisi G., Giordani S., Stanghellini V., Sabbà C., Mancuso G., Bartone M., Calipari D., Arcidiacono G., Bellanuova I., Ferraro M., Marigliano G., Cozzolino D., Lampitella A., Acri V., Galasso D., Mazzei F., Buratti A., Galasso S., Porta M., Brizzi M.F., Fattorini A., Sampietro F., D’Angelo A., Manfredini R., Pala M., Fabbian F., Moroni C., Valente L., Lopreiato F., Parente F., Granata M., Moia M., Braham S., Rossi M., Pesce M., Gentile A., Catozzo V., Baciarello G., Cosimati A., Ageno W., Rancan E., Guasti L., Ciccaglioni A., Negri S., Polselli M., Prisco D., Marcucci R., Ferro D., Perri L., Cangemi R., Saliola M., Del Ben M., Angelico F., Baratta F., Migliacci R., Porciello G., Corrao S. Data entry and Safety Monitoring Board: Proietti M., Raparelli V., Napoleone L., Talerico G., Amoroso D., Romiti G.F., Ruscio E., Toriello F., Sperduti N., Todisco T., Di Tanna G., Sacchetti M.L., Puddu P.E., Farcomeni A. Simi Young Internists Group: Anzaldi M., Bazzini C., Bianchi P.I., Boari B., Bracco C., Buonauro A., Buttà C., Buzzetti E., Calabria S., Capeci W., Caradio F., Carleo P., Carrabba M.D., Castorani L., Cecchetto L., Cicco S., Cimini C., Colombo B.M., De Giorgi A., De Vuono S., Del Corso L., Denegri A., Di Giosia P., Durante Mangoni E., Falsetti L., Forgione A., Giorgini P., Grassi D., Grembiale A., Hijazi D., Iamele L., Lorusso G., Marchese A., Marra A.M., Masala M., Miceli G., Montebianco Abenavoli L., Murgia G., Naccarato P., Padula D., Pattoneri P., Perego F., Pesce P., Piano S., Pinna M., Pinto D., Pretti V., Pucci G., Salinaro F., Salzano A., Santilli F., Scarpini F., Scicali R., Sirico D., Suppressa P., Talia M., Tassone E.J., Torres D., Vazzana N., Vecchio C.R., Vidili G., Vitale F., Zaccone V., Raparelli Valeria, Pastori Daniele, Pignataro Serena Francesca, Vestri Anna Rita, Pignatelli Pasquale, Cangemi Roberto, Proietti Marco, Davì Giovanni, Hiatt William Robert, Lip Gregory Yoke Hong, Corazza Gino Roberto, Perticone Francesco, Violi Francesco, Basili Stefania, Alessandri C, Serviddio G, Palange P, Greco E, Bruno G, Averna M, Giammanco A, Sposito P, De Cristofaro R, Carulli L, De Gennaro L, Pellegrini E, Cominacini L, Mozzini C, Pasini AF, Sprovieri M, Spagnuolo V, Cerqua G, Cerasola G, Mulé G, Barbagallo M, Lo Sciuto S, Monteverde A, Saitta A, Lo Gullo A, Malatino L, Cilia C, Terranova V, Pisano M, Pinto A, Di Raimondo D, Tuttolomondo A, Conigliaro R, Signorelli S, De Palma D, Galderisi M, Cudemo G, Galletti F, Fazio V, De Luca N, Meccariello A, Caputo D, De Donato MT, Iannuzi A, Bresciani A, Giunta R, Utili R, Iorio V, Adinolfi LE, Sellitto C, Iuliano N, Bellis P, Tirelli P, Sacerdoti D, Vanni D, Iuliano L, Ciacciarelli M, Pacelli A, Palazzuoli A, Cacciafesta M, Gueli N, Lo Iacono C, Brusco S, Verrusio W, Nobili L, Tarquinio N, Pellegrini F, Vincentelli GM, Ravallese F, Santini C, Letizia C, Petramala L, Zinnamosca L, Minisola S, Cilli M, Colangelo L, Falaschi P, Martocchia A, Pastore F, Bertazzoni G, Attalla El Halabieh E, Paradiso M, Lizzi EM, Timmi S, Battisti P, Cerci S, Ciavolella M, Di Veroli C, Malci F, De Ciocchis A, Abate D, Castellino P, Zanoli L, Fidone F, Mannarino E, Pasqualini L, Oliverio G, Pende A, Artom N, Ricchio R, Fimognari FL, Alletto M, Messina S, Sesti G, Arturi F, Succurro E, Fiorentino TV, Pedace E, Scarpino PE, Carullo G, Maio R, Sciacqua A, Frugiuele P, Battaglia G, Atzori S, Delitala G, Angelucci E, Sestili S, Traisci G, De Feudis L, Di Michele D, Fava A, Balsano C, De Ciantis P, Desideri G, Camerota A, Mezzetti M, Gresele P, Vedovati C, Fierro T, Puccetti L, Bertolotti M, Mussi C, Boddi M, Savino A, Contri S, Degl’Innocenti G, Saller A, Fabris F, Pesavento R, Filippi L, Vedovetto V, Puato M, Treleani M, De Luca E, De Zaiacomo F, Giantin V, Semplicini A, Minuz P, Romano S, Fantin F, Manica A, Stockner I, Pattis P, Gutmann B, Catena C, Colussi G, Sechi LA, Annoni G, Bruni AA, Castagna A, Spinelli D, Miceli E, Padula D, Schinco G, Spreafico S, Secchi B, Vanoli M, Casella G, Pulixi EA, Sansone L, Serra MG, Longo S, Antonaci S, Belfiore A, Frualdo M, Palasciano G, Ricci L, Ventrella F, Bianco C, Santovito D, Cipollone F, Nicolai S, Salvati F, Rini GB, Scozzari F, Muiesan ML, Salvetti M, Bazza A, Picardi A, Vespasiani-Gentilucci U, De Vincentis A, Cosio P, Terzolo M, Madaffari B, Parasporo B, Fenoglio L, Bracco C, Melchio R, Gentili T, Salvi A, Nitti C, Gabrielli A, Martino GP, Capucci A, Brambatti M, Sparagna A, Tirotta D, Andreozzi P, Ettorre E, Viscogliosi G, Servello A, Musumeci M, Delfino M, Giorgi A, Glorioso N, Melis G, Marras G, Matta M, Sacco A, Stellitano E, Scordo A, Russo F, Caruso AA, Porreca E, Tana M, Ferri C, Cheli P, Portincasa P, Muscianisi G, Giordani S, Stanghellini V, Sabbà C, Mancuso G, Bartone M, Calipari D, Arcidiacono G, Bellanuova I, Ferraro M, Marigliano G, Cozzolino D, Lampitella A, Acri V, Galasso D, Mazzei F, Buratti A, Galasso S, Porta M, Brizzi MF, Fattorini A, Sampietro F, D’Angelo A, Manfredini R, Pala M, Fabbian F, Moroni C, Valente L, Lopreiato F, Parente F, Granata M, Moia M, Braham S, Rossi M, Pesce M, Gentile A, Catozzo V, Baciarello G, Cosimati A, Ageno W, Rancan E, Guasti L, Ciccaglioni A, Negri S, Polselli M, Prisco D, Marcucci R, Ferro D, Perri L, Cangemi R, Saliola M, Del Ben M, Angelico F, Baratta F, Migliacci R, Porciello G, Corrao S, Proietti M, Raparelli V, Napoleone L, Talerico G, Amoroso D, Romiti GF, Ruscio E, Toriello F, Sperduti N, Todisco T, Di Tanna G, Sacchetti ML, Puddu PE, Farcomeni A, Anzaldi M, Bazzini C, Bianchi PI, Boari B, Buonauro A, Buttà C, Buzzetti E, Calabria S, Capeci W, Caradio F, Carleo P, Carrabba MD, Castorani L, Cecchetto L, Cicco S, Cimini C, Colombo BM, De Giorgi A, De Vuono S, Del Corso L, Denegri A, Di Giosia P, Durante Mangoni E, Falsetti L, Forgione A, Giorgini P, Grassi D, Grembiale A, Hijazi D, Iamele L, Lorusso G, Marchese A, Marra AM, Masala M, Miceli G, Montebianco Abenavoli L, Murgia G, Naccarato P, Pattoneri P, Perego F, Pesce P, Piano S, Pinna M, Pinto D, Pretti V, Pucci G, Salinaro F, Salzano A, Santilli F, Scarpini F, Scicali R, Sirico D, Suppressa P, Talia M, Tassone EJ, Torres D, Vazzana N, Vecchio CR, Vidili G, Vitale F, and Zaccone V

Subjects
Male, Settore MED/09 - Medicina Interna, 030204 cardiovascular system & hematology, Pulmonary Disease, Chronic Obstructive, 0302 clinical medicine, Risk Factors, Major cardiovascular event, Cause of Death, Risk of mortality, Prevalence, Medicine, 030212 general & internal medicine, Prospective Studies, Registries, Prospective cohort study, Stroke, Cause of death, COPD, Chronic obstructive pulmonary disease, Incidence, Hazard ratio, Atrial fibrillation, Cardiovascular mortality, Major cardiovascular events, Aged, Atrial Fibrillation, Cardiovascular Diseases, Endpoint Determination, Female, Follow-Up Studies, Humans, Italy, Predictive Value of Tests, Internal Medicine, Emergency Medicine, Atrial fibrillation, Cardiovascular mortality, Chronic obstructive pulmonary disease, Major cardiovascular events, Cardiology, Settore SECS-S/01 - Statistica, medicine.medical_specialty, Chronic Obstructive, Socio-culturale, Pulmonary Disease, 03 medical and health sciences, Internal medicine, cardiovascular diseases, business.industry, medicine.disease, business, Mace
Abstract

Chronic obstructive pulmonary disease (COPD) increases the risk of mortality in non-valvular atrial fibrillation (NVAF) patients. Data on the relationship of COPD to major cardiovascular events (MACE) in AF have not been defined. The aim of the study is to assess the predictive value of COPD on incident MACE in NVAF patients over a 3-year follow-up. In the Atrial Fibrillation Registry for Ankle-Brachial Index Prevalence Assessment-Collaborative Italian Study (ARAPACIS) cohort, we evaluate the impact of COPD on the following clinical endpoints: MACE (including vascular death, fatal/non-fatal MI and stroke/TIA), cardiovascular (CV) death and all-cause mortality. Among 2027 NVAF patients, patients with COPD (9%) are more commonly male, elderly and at higher thromboembolic risk. During a median 36.0months follow-up, 186 patients experienced MACE: vascular death (n = 72), MI (n = 57), stroke/TIA (n = 57). All major outcomes (including stroke/TIA, MI, vascular death, and all-cause death) are centrally adjudicated. Kaplan–Meier curves show that NVAF patients with COPD are at higher risk for MACE (p < 0.001), CV death (p < 0.001) and all-cause death (p < 0.001). On Cox proportional hazard analysis, COPD is an independent predictor of MACE (Hazard ratio [HR] 1.77, 95% Confidence Intervals [CI] 1.20–2.61; p = 0.004), CV death (HR 2.73, 95% CI 1.76–4.23; p < 0.0001) and all-cause death (HR 2.16, 95% CI 1.48–3.16; p < 0.0001). COPD is an independent predictor of MACE, CV death and all-cause death during a long-term follow-up of NVAF patients.

Published
2018

39. Premorbid academic and social functioning in patients with schizophrenia and its associations with negative symptoms and cognition

Author

Bucci, P., Galderisi, S., Mucci, A., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Andriola, I., Bellomo, A., Biondi, M., Cuomo, A., Dell'Osso, L., Favaro, A., Gambi, F., Giordano, G. M., Girardi, P., Marchesi, C., Monteleone, P., Montemagni, C., Niolu, C., Oldani, L., Pacitti, F., Pinna, F., Roncone, R., Vita, A., Zeppegno, P., Maj, M., Patriarca, Sara, Pietrafesa, Daria, Aiello, Carmen, Longo, Luisa, Barone, Marina, Romano, Raffaella, Atti, Anna Rita, Barlati, Stefano, Deste, Giacomo, Valsecchi, Paolo, Carpiniello, Bernardo, Tusconi, Massimo, Puddu, Laura, Signorelli, Maria Salvina, Cannavò, Dario, Minutolo, Giuseppe, Corbo, Mariangela, Montemitro, Chiara, Baroni, Gaia, Altamura, Mario, La Montagna, Maddalena, Carnevale, Raffaella, Murri, Martino Belvederi, Calcagno, Pietro, Bugliani, Michele, Pizziconi, Giulia, Logozzo, Francesca, Rossi, Rodolfo, Giusti, Laura, Salza, Anna, Malavolta, Maurizio, Orsenigo, Giulia, Grassi, Silvia, De Bartolomeis, Andrea, Gramaglia, Carla, Gattoni, Eleonora, Gambaro, Eleonora, Tenconi, Elena, Ferronato, Luisa, Collantoni, Enrico, Tonna, Matteo, Ossola, Paolo, Gerra, Maria Lidia, Carmassi, Claudia, Cremone, Ivan Mirko, Carpita, Barbara, Buzzanca, Antonio, Girardi, Nicoletta, Frascarelli, Marianna, Del Casale, Antonio, Comparelli, Anna, Corigliano, Valentina, Siracusano, Alberto, Di Lorenzo, Giorgio, Ribolsi, Michele, Corrivetti, Giulio, Bartoli, Luca, Del Buono, Gianfranco, Fagiolini, Andrea, Bolognesi, Simone, Goracci, Arianna, Mancini, Irene, Bava, Irene, Cardillo, Simona, Bucci P., Galderisi S., Mucci A., Rossi A., Rocca P., Bertolino A., Aguglia E., Amore M., Andriola I., Bellomo A., Biondi M., Cuomo A., dell'Osso L., Favaro A., Gambi F., Giordano G.M., Girardi P., Marchesi C., Monteleone P., Montemagni C., Niolu C., Oldani L., Pacitti F., Pinna F., Roncone R., Vita A., Zeppegno P., Maj M., Patriarca S., Pietrafesa D., Aiello C., Longo L., Barone M., Romano R., Atti A.R., Barlati S., Deste G., Valsecchi P., Carpiniello B., Tusconi M., Puddu L., Signorelli M.S., Cannavo D., Minutolo G., Corbo M., Montemitro C., Baroni G., Altamura M., La Montagna M., Carnevale R., Murri M.B., Calcagno P., Bugliani M., Pizziconi G., Logozzo F., Rossi R., Giusti L., Salza A., Malavolta M., Orsenigo G., Grassi S., De Bartolomeis A., Gramaglia C., Gattoni E., Gambaro E., Tenconi E., Ferronato L., Collantoni E., Tonna M., Ossola P., Gerra M.L., Carmassi C., Cremone I.M., Carpita B., Buzzanca A., Girardi N., Frascarelli M., Del Casale A., Comparelli A., Corigliano V., Siracusano A., Di Lorenzo G., Ribolsi M., Corrivetti G., Bartoli L., Del Buono G., Fagiolini A., Bolognesi S., Goracci A., Mancini I., Bava I., Cardillo S., Bucci, P., Galderisi, S., Mucci, A., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Andriola, I., Bellomo, A., Biondi, Maria, Cuomo, Anna, Dell'Osso, L., Favaro, A., Gambi, F., Giordano, G. M., Girardi, P., Marchesi, C., Monteleone, P., Montemagni, C., Niolu, C., Oldani, L., Pacitti, F., Pinna, F., Roncone, R., DE VITA, Anna, Zeppegno, P., Maj, M., Patriarca, Sara, Pietrafesa, Daria, Aiello, Carmen, Longo, Luisa, Barone, Marina, Romano, Raffaella, Atti, Anna Rita, Barlati, Stefano, Deste, Giacomo, Valsecchi, Paolo, Carpiniello, Bernardo, Tusconi, Massimo, Puddu, Laura, Signorelli, Maria Salvina, Cannavò, Dario, Minutolo, Giuseppe, Corbo, Mariangela, Montemitro, Chiara, Baroni, Gaia, Altamura, Mario, La Montagna, Maddalena, Carnevale, Raffaella, Murri, Martino Belvederi, Calcagno, Pietro, Bugliani, Michele, Pizziconi, Giulia, Logozzo, Francesca, Rossi, Rodolfo, Giusti, Laura, Salza, Anna, Malavolta, Maurizio, Orsenigo, Giulia, Grassi, Silvia, De Bartolomeis, Andrea, Gramaglia, Carla, Gattoni, Eleonora, Gambaro, Eleonora, Tenconi, Elena, Ferronato, Luisa, Collantoni, Enrico, Tonna, Matteo, Ossola, Paolo, Gerra, Maria Lidia, Carmassi, Claudia, Cremone, Ivan Mirko, Carpita, Barbara, Buzzanca, Antonio, Girardi, Nicoletta, Frascarelli, Marianna, Del Casale, Antonio, Comparelli, Anna, Corigliano, Valentina, Siracusano, Alberto, Di Lorenzo, Giorgio, Ribolsi, Michele, Corrivetti, Giulio, Bartoli, Luca, Del Buono, Gianfranco, Fagiolini, Andrea, Bolognesi, Simone, Goracci, Arianna, Mancini, Irene, Bava, Irene, Cardillo, Simona, Biondi, M., Cuomo, A., Vita, A., and Casale, Antonio

Subjects
Male, avolition, Severity of Illness Index, cognitive functioning, 0302 clinical medicine, Cognition, Academic Performance, Medicine, Psychopathology, Depression, primary negative symptoms, Middle Aged, Psychiatric Status Rating Scale, avolition, cognitive functioning, poor emotion expression, premorbid adjustment, primary negative symptoms, poor emotion expression, premorbid adjustment, Psychiatry and Mental Health, Memory, Short-Term, Schizophrenia, Female, Schizophrenic Psychology, medicine.symptom, Psychosocial, Social Adjustment, Clinical psychology, Human, Adult, primary negative symptom, 03 medical and health sciences, Cognition Disorder, Memory, Social cognition, Humans, Cognitive Dysfunction, Cognitive skill, Social Behavior, Aged, Cognition Disorders, Motivation, Psychiatric Status Rating Scales, Settore MED/25 - Psichiatria, Avolition, business.industry, medicine.disease, 030227 psychiatry, Short-Term, business, Neurocognitive, 030217 neurology & neurosurgery
Abstract

Objective The study aimed to explore premorbid academic and social functioning in patients with schizophrenia, and its associations with the severity of negative symptoms and neurocognitive impairment. Method Premorbid adjustment (PA) in patients with schizophrenia was compared to early adjustment in unaffected first-degree relatives and healthy controls. Its associations with psychopathology, cognition, and real-life functioning were investigated. The associations of PA with primary negative symptoms and their two factors were explored. Results We found an impairment of academic and social PA in patients (P ≤ 0.000001) and an impairment of academic aspects of early adjustment in relatives (P ≤ 0.01). Patients with poor PA showed greater severity of negative symptoms (limited to avolition after excluding the effect of depression/parkinsonism), working memory, social cognition, and real-life functioning (P ≤ 0.01 to ≤0.000001). Worse academic and social PA were associated with greater severity of psychopathology, cognitive impairment, and real-life functioning impairment (P ≤ 0.000001). Regression analyses showed that worse PA in the academic domain was mainly associated to the impairment of working memory, whereas worse PA in the social domain to avolition (P ≤ 0.000001). Conclusion Our findings suggest that poor early adjustment may represent a marker of vulnerability to schizophrenia and highlight the need for preventive/early interventions based on psychosocial and/or cognitive programs.

Published
2018

40. The role of Glycoprotein IIb/IIIa inhibitors in acute coronary syndromes and the interference with anemia

Author

Michele Schiariti, Olivia Manfrini, Loredana Iannetta, Domenico Cuturello, Attilio Placanica, Paolo Emilio Puddu, Puddu, Paolo Emilio, Iannetta, Loredana, Placanica, Attilio, Cuturello, Domenico, Schiariti, Michele, and Manfrini, Olivia

Subjects
medicine.medical_specialty, Anemia, medicine.drug_class, gp iib/iiia inhibitors, high risk patients, acute coronary syndromes, acute ischemia, pci, elderly, anemia, Platelet Glycoprotein GPIIb-IIIa Complex, 030204 cardiovascular system & hematology, GP IIb/IIIa inhibitor, Bioinformatics, Risk profile, 03 medical and health sciences, 0302 clinical medicine, Acute ischemia, Risk Factors, medicine, Humans, 030212 general & internal medicine, business.industry, Medicine (all), Anticoagulant, PCI, medicine.disease, High risk patient, Surgery, Red blood cell, Treatment Outcome, medicine.anatomical_structure, Glycoprotein IIb/IIIa inhibitors, Pharmacogenomics, Conventional PCI, Acute coronary syndrome, Hemoglobin, Elderly, anemia, Cardiology and Cardiovascular Medicine, business, Platelet Aggregation Inhibitors, medicine.drug
Abstract

The role played by glycoprotein (GP) IIb/IIIa inhibitors (GPI) has continuously evolved until the most recent Guidelines whereby they were stepped down from class I to class II recommendation for treating acute coronary syndromes (ACS). GPI compete with a wider use of ADP inhibitors and novel anticoagulant drugs although GPI use has greatly narrowed. However, GPI may still have a role. Several criteria were proposed to define post-PCI anemia which is strictly related to bleeding and transfusion. In ACS, it should be important to define anemia in comparative terms versus baseline levels: ≥ 15% of red blood cell decrease should be a practical cut-off value. If one wishes to concentrate on hemoglobin (Hb), a ≥ 2 g/dl Hb decrease from baseline should be considered. It is important to recognize post-PCI anemia in the setting of ACS. There are sub-populations exposed to short-term hemorrhagic and/or long-term ischemic risks. Ischemic and hemorrhagic risks need to be carefully evaluated along with thrombocytopenia and its prognostic significance in order to put all these blood and rheological parameters into a clinically oriented perspective on which therapeutical decisions should be based. Definition of high risk procedures (complexity, angiographic characteristics and patient's risk profile, regardless whether STEMI or NSTEMI) may help selecting GPI. There are positive elements in GPI use: efficacy, rapid onset and reversibility of action, absence of pharmacogenomic variability, pharmacoeconomic considerations and the possibility of intracoronary administration. All these elements should be evaluated when selecting these agents for therapeutics.

Published
2016

41. Predicting cerebral edema in ischemic stroke patients

Author

Luca Faccioli, Marco Zoli, Marco Pastore Trossello, Maria Vittoria Lega, Antonio Muscari, Andrea Lorusso, Giovanni M. Puddu, Luca Spinardi, Muscari A., Faccioli L., Lega M.V., Lorusso A., Trossello M.P., Puddu G.M., Spinardi L., and Zoli Marco

Subjects
Male, medicine.medical_specialty, Neurology, Prognosi, Determinant, Brain Edema, Dermatology, Severity of Illness Index, Cerebral edema, Brain Ischemia, Brain ischemia, 03 medical and health sciences, 0302 clinical medicine, Retrospective Studie, medicine.artery, Internal medicine, Edema, medicine, Humans, 030212 general & internal medicine, Stroke, Brain CT scan, Retrospective Studies, Neuroradiology, Aged, Aged, 80 and over, Ischemic stroke, business.industry, General Medicine, Middle Aged, Prognosis, medicine.disease, Hyperintensity, Psychiatry and Mental health, Middle cerebral artery, Cardiology, Female, Neurology (clinical), medicine.symptom, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Predictor, Human
Abstract

Objectives: To produce a scoring system for predicting the development of edema in ischemic stroke patients without edema on admission. Methods: This retrospective study included 572 ischemic stroke patients (73.3 ± 13.0years, 300 male) without signs of cerebral edema on the first CT scan, which was performed on admission. Another scan was normally performed 3days later, and subsequently whenever needed. Edema was defined as cerebral hypodensity with compression of lateral ventricles. The main clinical, laboratory, and instrumental variables obtained during the first 24h were related to the appearance of edema on the CT scans performed after the first one. Results: Cerebral edema occurred in 158 patients (27.6%) after a median time of 4days. The variables independently associated with edema development were (odds ratio, 95% CI) the following: (1) total anterior circulation syndrome (4.20, 2.55–6.93; P < 0.0001), (2) hyperdense appearance of middle cerebral artery (4.12, 2.03–8.36; P = 0.0001), (3) closed eyes (2.53, 1.39–4.60; P = 0.002), (4) vomiting (3.53, 1.45–8.60; P = 0.006), (5) lacunar cerebral syndrome (0.36, 0.17–0.77; P = 0.008); and (6) white matter lesions (0.53, 0.33–0.86; P = 0.01). Counting one positive point for the first four variables and one negative point for the last two variables, a scoring system (E-score) was built. Cerebral edema could be predicted when the score was ≥ 1 (positive predictive value 61.6%, specificity 85.3%, sensitivity 62.0%). The area under the receiver operating characteristic curve was 0.78. Conclusions: In ischemic stroke patients, six variables obtained during the first 24h of hospitalization were predictive of subsequent cerebral edema development.

Published
2019

42. Non-invasive prediction of genotype positive–phenotype negative in hypertrophic cardiomyopathy by 3D modern shape analysis

Author

Concetta Torromeo, Andrea Madeo, Paola Nardinocchi, Antonietta Evangelista, Claudia Chialastri, Michele Schiariti, Luciano Teresi, Federica Re, Paolo Piras, Paolo Emilio Puddu, Valerio Varano, Giuseppe Esposito, Piras, P., Torromeo, C., Evangelista, A., Esposito, G., Nardinocchi, P., Teresi, L., Madeo, A., Re, F., Chialastri, C., Schiariti, M., Varano, V., and Puddu, P. E.

Subjects
Adult, Male, medicine.medical_specialty, Genotype, Physiology, Heart Ventricles, Speckle tracking echocardiography, 030204 cardiovascular system & hematology, Muscle hypertrophy, 03 medical and health sciences, Ventricular Dysfunction, Left, 0302 clinical medicine, Physiology (medical), Internal medicine, Medicine, Humans, cardiovascular diseases, Nutrition and Dietetics, 3D echocardiography, Receiver operating characteristic, business.industry, Hypertrophic cardiomyopathy, General Medicine, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, hypertrophic cardiomyopathy, Phenotype, 3D echocardiography, genetics, genotype positive, hypertrophic cardiomyopathy, modern shape analysis, medicine.anatomical_structure, ROC Curve, genotype positive, modern shape analysis, Ventricle, Echocardiography, Cardiology, Female, Hypertrophy, Left Ventricular, genetic, business, 030217 neurology & neurosurgery, Shape analysis (digital geometry)
Abstract

New findings What is the central question of this study? Can impaired deformational indicators for genotype positive for hypertrophic cardiomyopathy in subjects that do not exhibit a left-ventricular wall hypertrophy condition (G+LVH-) be determined using non-invasive 3D echocardiography? What is the main finding and its importance? Using 3D-STE and modern shape analysis, peculiar deformational impairments can be detected in G+LVH- subjects that can be classified with good accuracy. Moreover, the patterns of impairment are located mainly on the apical region in agreement with other evidence coming from previous biomechanical investigations. Abstract We propose a non-invasive procedure for predicting genotype positive for hypertrophic cardiomyopathy (HCM) in subjects that do not exhibit a left-ventricular wall hypertrophy condition (G+LVH-); the procedure is based on the enhanced analysis of medical imaging from 3D speckle tracking echocardiography (3D-STE). 3D-STE, due to its low quality images, has not been used so far to detect effectively the G+LVH- condition. Here, we post-processed echocardiographic images exploiting the tools of modern shape analysis, and we studied the motion of the left ventricle (LV) during an entire cycle. We enrolled 82 controls, 21 HCM patients and 11 G+LVH- subjects. We followed two steps: (i) we selected the most impaired regions of the LV by analysing its strains; and (ii) we used shape analysis on these regions to classify the subjects. The G+LVH- subjects showed different trajectories and deformational attributes. We found high classification performance in terms of area under the receiver operating characteristic curve (∼90), sensitivity (∼78) and specificity (∼79). Our results showed that (i) G+LVH- subjects present important deformational impairments relative to healthy controls and (ii) modern shape analysis can efficiently predict genotype by means of a non-invasive and inexpensive technique such as 3D-STE.

Published
2019

43. The Human Breast Milk Metabolome in Overweight and Obese Mothers

Author

Flaminia Bardanzellu, Vassilios Fanos, Melania Puddu, and Diego Peroni

Subjects
lcsh:Immunologic diseases. Allergy, 0301 basic medicine, obesity, breastfeeding, Offspring, Immunology, Breastfeeding, Physiology, Review, Breast milk, Overweight, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Polyamines, Metabolome, Humans, overweight, Immunology and Allergy, Medicine, Amino Acids, Milk, Human, diabetes, Nucleotides, business.industry, medicine.disease, metabolomics, Lipids, Obesity, gestational diabetes mellitus, 030104 developmental biology, Alcohols, breast milk, Female, medicine.symptom, Sugars, lcsh:RC581-607, business, Body mass index, 030215 immunology
Abstract

Pre-pregnancy body mass index (BMI) is a major relevance factor, since maternal overweight and obesity can impair the pregnancy outcome and represent risk factors for several neonatal, childhood, and adult conditions, including excessive weight gain, cardiovascular disease, diabetes mellitus, and even behavioral disorders. Currently, breast milk (BM) composition in such category of mothers was not completely defined. In this field, metabolomics represents the ideal technology, able to detect the whole profile of low molecular weight molecules in BM. Limited information is available on human BM metabolites differences in overweight or obese compared to lean mothers. Analyzing all the metabolomics studies published on Medline in English language, this review evaluated the effects that 8 specific types of metabolites found altered by maternal overweight and obesity (nucleotide derivatives, 5-methylthioadenosine, sugar-alcohols, acylcarnitine and amino acids, polyamines, mono-and oligosaccharides, lipids) can exert on the risk of offspring obesity development and other potentially associated health outcomes and complications. However, metabolites variations in samples collected from overweight and obese mothers and the potentially correlated effects highlighted below still need further investigations and should be confirmed in future metabolomics studies on larger samples. Finally, the positive or negative influence of maternal overweight and obesity on the offspring, potentially exerted by breastfeeding, should be analyzed in close correlation with maternal age, genetic and environmental factors, including diet, and taking into account the interactions occurring between BM metabolites and lactobiome. The evaluation of all the factors affecting BM metabolites in overweight and obese mothers can lead to the comprehensive description of such biofluid and the related effects on breastfed subjects, potentially highlighting personalized needs of BM supplementation or short- and long-term prevention strategies to optimize offspring health.

Published
2020

44. Proof-of-concept trial results of the HeartMan mobile personal health system for self-management in congestive heart failure

Author

Marc Vanderheyden, Giovanni Pioggia, Anneleen Baert, Jakob Valič, Maria Costanza Ciancarelli, Sofie Pardaens, Rita Le Donne, Amos Adeyemo Dawodu, Delphine De Smedt, Els Clays, Aljoša Vodopija, Marko Bohanec, Michel De Pauw, Michele Schiariti, Flavia Marino, Johan De Sutter, Jan Derboven, Gennaro Tartarisco, Marilena Vrana, Mitja Luštrek, Paolo Emilio Puddu, Clinical sciences, and Cardiology

Subjects
Pulmonary and Respiratory Medicine, Male, Quality of life, medicine.medical_specialty, Disease prevention, Science, 030204 cardiovascular system & hematology, Proof of Concept Study, Article, surgery, 03 medical and health sciences, 0302 clinical medicine, Intervention (counseling), medicine, Medicine and Health Sciences, Internal Medicine, Humans, 030212 general & internal medicine, Depression (differential diagnoses), Reproductive health, Aged, Heart Failure, Self-management, Multidisciplinary, business.industry, Self-Management, Public Health, Environmental and Occupational Health, Middle Aged, medicine.disease, Telemedicine, 3. Good health, personal health system, congestive heart failure, Treatment Outcome, Heart failure, Case-Control Studies, Ambulatory, Physical therapy, Heart Failure/therapy, Medicine, Anxiety, Female, medicine.symptom, business, Cardiology and Cardiovascular Medicine
Abstract

This study tested the effectiveness of HeartMan—a mobile personal health system offering decisional support for management of congestive heart failure (CHF)—on health-related quality of life (HRQoL), self-management, exercise capacity, illness perception, mental and sexual health. A randomized controlled proof-of-concept trial (1:2 ratio of control:intervention) was set up with ambulatory CHF patients in stable condition in Belgium and Italy. Data were collected by means of a 6-min walking test and a number of standardized questionnaire instruments. A total of 56 (34 intervention and 22 control group) participants completed the study (77% male; mean age 63 years, sd 10.5). All depression and anxiety dimensions decreased in the intervention group (p p p p

Published
2020

45. Surgical treatment of talar osteo-chondral lesions with micro-fractures, mesenchymal cells grafting on membrane, or allograft: Mid-term clinical and magnetic resonance assessment

Author

Fabiana Altamore, Francesco Tessarolo, Sabino Walter Della Sala, Leonardo Puddu, Andrea Fabio Manunta, Domenico Mercurio, Marta Rigoni, Gianfilippo Caggiari, Alessandro Marinetti, Alessandro Santandrea, and Fabrizio Cortese

Subjects
medicine.medical_specialty, medicine.diagnostic_test, Subchondral bone, business.industry, Mesenchymal stem cell, medicine, Orthopedics and Sports Medicine, Magnetic resonance imaging, Radiology, Surgical treatment, business, Article
Abstract

Talar dome osteo-chondral lesions (OCL) are defects of the cartilaginous surface and subchondral bone often associated with sport practice. This retrospective observational work has the purpose of assessing: a) The clinical outcomes in the patients study group and in the three sub-groups; b) medium-term morphological and qualitative outcomes of the newly formed tissue by magnetic resonance imaging; c) if there is the correlation between new formed tissue clinical, morphological RM evaluation and qualitative clinical outcomes.

Published
2020

46. Impact of Sex on Office White Coat effect Tail: A Review

Author

Paolo Emilio Puddu, Christiane Bedier, Agnès Hofferer, Jeanne Le Bas, Mathieu Bansard, François Le Bas, Sophie Fedrizzi, Joachim Alexandre, Andry Rabiaza, Anne-Laure Huet, and Xavier Humbert

Subjects
Male, medicine.medical_specialty, White coat hypertension, Blood Pressure, Coronary Disease, chemistry.chemical_compound, High-density lipoprotein, Seven Countries Study, Risk Factors, Internal medicine, Drug Discovery, medicine, Humans, Stroke, Pharmacology, Cholesterol, business.industry, Incidence (epidemiology), Incidence, medicine.disease, Blood pressure, chemistry, Cardiovascular Diseases, Hypertension, Female, business, Body mass index
Abstract

Office white-coat effect tail (OWCET) is defined as a decrease of ≥10 mmHg in systolic blood pressure (SBP) between successive measurements after its waxing during an office visit. The influence of sex on the incidence of long-term major fatal and non-fatal cardiovascular events was studied in two Italian populational cohorts [from the Gubbio Study and the Italian Rural Areas of the Seven Countries Study (IRA)]. OWCET increased risk of cardiovascular disease (CVD) [HR: 1.591 (95% CI: 1.204-2.103)], coronary heart disease (CHD) [HR: 1.614 (95% CI: 1.037-2.512)] and stroke (STR) [HR: 1.696 (95% CI: 1.123-2.563)] events independently of age, serum and high density lipoprotein (HDL) cholesterol, cigarettes, body mass index (BMI) and SBP in women included in Gubbio study over an almost 20-year follow-up. However, risks of CVD, CHD or STR increased in men with OWCET neither in the Gubbio 20-year follow-up nor in the IRA 50-year follow-up. The correction of the regression dilutions bias between the first and the subsequent SBP measurements did not significantly change these outcomes. Primary care physicians should evaluate OWCET, especially in women, to improve stratification of long-term CVD, CHD and STR risks.

Published
2020

48. Age at death in elderly cohorts of four European countries of the Seven Countries Study: the role of comorbidities

Author

Alessandro Menotti, Hanna Tolonen, and Paolo Emilio Puddu

Subjects
Male, Aging, Chronic bronchitis, Comorbidity, 03 medical and health sciences, 0302 clinical medicine, Seven Countries Study, Risk Factors, Diabetes mellitus, Heart rate, medicine, Humans, 030212 general & internal medicine, Stroke, Finland, Aged, Netherlands, Aged, 80 and over, business.industry, medicine.disease, Europe, Blood pressure, Italy, Population study, Geriatrics and Gerontology, business, Body mass index, 030217 neurology & neurosurgery, Demography, Follow-Up Studies
Abstract

To study age at death (AD) in elderly men as a function of risk factors and morbid conditions in a 25-year follow-up. Men enrolled in the Seven Countries Study belonging to 8 cohorts in 4 European countries (Finland, The Netherlands, Italy and Serbia) were examined between 1984 and 1989 (aged 65–84 years) with measurement of some cardiovascular risk factors and recording of a few major morbid conditions. AD was measured after 25-year follow-up and used in multiple linear regression (MLR) models as dependent variable; while, risk factors and morbid conditions had the role of independent variables. Out of 2457 men, 2290 died during 25-year follow-up. Overall mean AD was of 82.0 years and slightly different across cohorts, the lowest being recorded in Finland. Age at entry examination and HDL cholesterol were directly associated with AD; while, blood pressure, heart rate, smoking habits and morbid conditions (major cardiovascular diseases, either independently or combined together with diabetes, chronic bronchitis, cancer and silent ECG abnormalities) were inversely related to AD. Body mass index had a parabolic relation with AD with longer survival for levels around 24 units; while, total serum cholesterol was not related to AD. However, only three independent variables were statistically significant when tested in each individual country (age, heart rate and stroke). In a MLR model, where a comorbidity score was entered as independent variable (everything else being equal), the presence of 1 morbid condition was associated with a reduced AD by 1.87 years that increased up to 6.39 years when 4 morbid conditions were present. AD seems a valuable indicator of all-cause mortality when the study population has reached or approached the extinction.

Published
2020

50. The Use of Allograft

Author

Domenico Mercurio, Alessandro Santandrea, Fabrizio Cortese, and Leonardo Puddu

Subjects
medicine.medical_specialty, medicine.diagnostic_test, Hyaline cartilage, business.industry, medicine.medical_treatment, Cartilage, Arthroscopy, Curettage, Surgery, Lesion, Cystic lesion, medicine.anatomical_structure, Subchondral bone, medicine, medicine.symptom, business, Fixation (histology)
Abstract

Whereas literature agrees on conservative treatment for asymptomatic osteochondral lesions, there is considerable controversy surrounding the treatment of symptomatic lesions, and especially for the large ones (larger than 15 mm of diameter and deeper than 10 mm). The current indications concerning small lesions include removal or fixation of loose bodies, curettage and micro-fractures of the subchondral bone. Surgical management of the large lesions is more controversial and includes different options, such as bone filling (above all cystic lesion), cartilage regeneration techniques (ACI, MACI, AMIC), synthetic cartilage replacements and osteochondral autografts (OATS) or allograft transplantations. Indication for osteochondral transplants is restricted to lesions larger than 15 mm and deeper than 8 mm. The therapeutic principle is to restore the hyaline cartilage and subchondral bone functional unit. The allograft is harvested from a donor talus that can be fresh or frozen bone. The treatment of osteochondral lesions with allograft is usually an open procedure and arthroscopy can be performed before the open approach to confirm the site and the size of the lesion. In this chapter we describe surgical technique with its pittfalls and tricks.

Published
2020

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