PMID- 31070812 OWN - NLM STAT- Publisher LR - 20190527 IS - 1531-8249 (Electronic) IS - 0364-5134 (Linking) DP - 2019 May 9 TI - A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). LID - 10.1002/ana.25500 [doi] AB - OBJECTIVE: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. METHODS: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. RESULTS: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. INTERPRETATION: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019. CI - (c) 2019 American Neurological Association. FAU - Pareyson, Davide AU - Pareyson D AD - Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - Stojkovic, Tanya AU - Stojkovic T AD - Hopital Pitie-Salpetriere, AP-HP, Centre de reference des maladies neuromusculaires Nord/Est/Ile de France, Paris, France. FAU - Reilly, Mary M AU - Reilly MM AD - MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. FAU - Leonard-Louis, Sarah AU - Leonard-Louis S AD - Hopital Pitie-Salpetriere, AP-HP, Centre de reference des maladies neuromusculaires Nord/Est/Ile de France, Paris, France. FAU - Laura, Matilde AU - Laura M AD - MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. FAU - Blake, Julian AU - Blake J AD - MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. AD - Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, United Kingdom. FAU - Parman, Yesim AU - Parman Y AD - Istanbul University, Istanbul Faculty of Medicine, Neurology Dep. Istanbul, Turkey. FAU - Battaloglu, Esra AU - Battaloglu E AD - Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey. FAU - Tazir, Meriem AU - Tazir M AD - Laboratoire de Recherche en Neurosciences Service de Neurologie, CHU, Alger, Algeria. FAU - Bellatache, Mounia AU - Bellatache M AD - Laboratoire de Recherche en Neurosciences Service de Neurologie, CHU, Alger, Algeria. FAU - Bonello-Palot, Nathalie AU - Bonello-Palot N AUID- ORCID: https://orcid.org/0000-0002-8657-1271 AD - Department of Medical Genetics, Timone Hospital, Marseille, France.2, Aix-Marseille University, INSERM, MMG, U1251, Marseille, France. FAU - Levy, Nicolas AU - Levy N AD - Department of Medical Genetics, Timone Hospital, Marseille, France.2, Aix-Marseille University, INSERM, MMG, U1251, Marseille, France. FAU - Sacconi, Sabrina AU - Sacconi S AD - Universite Cote d'Azur, Service Systeme Nerveux Peripherique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Nice, France. FAU - Guimaraes-Costa, Raquel AU - Guimaraes-Costa R AD - Hopital Pitie-Salpetriere, AP-HP, Centre de reference des maladies neuromusculaires Nord/Est/Ile de France, Paris, France. FAU - Attarian, Sharham AU - Attarian S AD - Reference center for neuromuscular disorders and ALS, CHU La Timone, Aix-Marseille University, Marseille, France. FAU - Latour, Philippe AU - Latour P AD - Center of Biology and Pathology Laboratory of Molecular Neurogenetics, Hospices Civils, Lyon, France. FAU - Sole, Guilhem AU - Sole G AD - Reference center for neuromuscular disorders AOC (Atlantique Occitanie Caraibes), CHU de Bordeaux, Bordeaux, France. FAU - Megarbane, Andre AU - Megarbane A AD - Institut Jerome Lejeune, Paris, France. AD - INOVIE, Beirut, Lebanon. FAU - Horvath, Rita AU - Horvath R AD - Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. AD - Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom. FAU - Ricci, Giulia AU - Ricci G AD - Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. AD - Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. FAU - Choi, Byung-Ok AU - Choi BO AD - Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. FAU - Schenone, Angelo AU - Schenone A AD - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and MATERNAL Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genoa, Italy. FAU - Gemelli, Chiara AU - Gemelli C AD - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and MATERNAL Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genoa, Italy. FAU - Geroldi, Alessandro AU - Geroldi A AD - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and MATERNAL Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genoa, Italy. FAU - Sabatelli, Mario AU - Sabatelli M AD - Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Centro Clinico Nemo Adulti Rome, Rome, Italy. AD - Universita Cattolica del Sacro Cuore. Sede di Roma, Rome, Italy. FAU - Luigetti, Marco AU - Luigetti M AD - Universita Cattolica del Sacro Cuore. Sede di Roma, Rome, Italy. AD - UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. FAU - Santoro, Lucio AU - Santoro L AD - Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy. FAU - Manganelli, Fiore AU - Manganelli F AD - Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy. FAU - Quattrone, Aldo AU - Quattrone A AD - Department of Neurology, Universita Magna Graecia di Catanzaro, Catanzaro, Italy. FAU - Valentino, Paola AU - Valentino P AD - Department of Neurology, Universita Magna Graecia di Catanzaro, Catanzaro, Italy. FAU - Murakami, Tatsufumi AU - Murakami T AD - Department of Neurology, Kawasaki Medical School, Kurashiki, Japan. FAU - Scherer, Steven S AU - Scherer SS AD - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. FAU - Dankwa, Lois AU - Dankwa L AD - Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. FAU - Shy, Michael E AU - Shy ME AD - Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA. FAU - Bacon, Chelsea J AU - Bacon CJ AD - Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA. FAU - Herrmann, David N AU - Herrmann DN AD - Department of Neurology, University of Rochester, Rochester, NY. FAU - Zambon, Alberto AU - Zambon A AD - Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy. FAU - Tramacere, Irene AU - Tramacere I AD - Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - Pisciotta, Chiara AU - Pisciotta C AD - Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - Magri, Stefania AU - Magri S AD - Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - Previtali, Stefano C AU - Previtali SC AUID- ORCID: https://orcid.org/0000-0003-2546-4357 AD - Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy. FAU - Bolino, Alessandra AU - Bolino A AUID- ORCID: https://orcid.org/0000-0002-8980-4878 AD - Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy. LA - eng GR - 1R01DK115687-01A1/Friedreich's Ataxia Research Alliance GR - 21528/AFM-Telethon France GR - project #14784/Bogazici University Research Fund GR - MR/N025431/1/Medical Research Council (UK) GR - NRF-2017R1A2B2004699/National Research Foundation, Korea GR - CMT American Association (CMTA) GR - 96/CoFin Regione Lombardia GR - JTC 2015 CMT-NRG/E-Rare JTC GR - JTC 2017 TREAT-MTMs/E-Rare JTC GR - 309548/European Research Council/International GR - U54 NS065712/Inherited Neuropathy Consortium (INC) GR - MDA510281/Muscular Dystrophy Association (MDA) GR - MDA574294/Muscular Dystrophy Association (MDA) GR - GGP15012A/Telethon Foundation GR - GR-2016-02363337/Italian Ministry of Health GR - RF-2011-02347127/Italian Ministry of Health GR - RF-2016-02361246/Italian Ministry of Health GR - Judy Seltzer Levenson Memorial Fund for CMT Research GR - National Institute for Health Research University College London Hospitals Biomedical Research Centre GR - MR/N027302/1/Newton Fund UK/Turkey GR - 109915/Z/15/Z/Wellcome Investigator Award GR - 201064/Z/16/Z/Wellcome Trust Pathfinder Scheme PT - Journal Article DEP - 20190509 PL - United States TA - Ann Neurol JT - Annals of neurology JID - 7707449 EDAT- 2019/05/10 06:00 MHDA- 2019/05/10 06:00 CRDT- 2019/05/10 06:00 PHST- 2019/02/10 00:00 [received] PHST- 2019/04/23 00:00 [revised] PHST- 2019/05/05 00:00 [accepted] PHST- 2019/05/10 06:00 [pubmed] PHST- 2019/05/10 06:00 [medline] PHST- 2019/05/10 06:00 [entrez] AID - 10.1002/ana.25500 [doi] PST - aheadofprint SO - Ann Neurol. 2019 May 9. doi: 10.1002/ana.25500. PMID- 29348020 OWN - NLM STAT- In-Data-Review LR - 20180302 IS - 1558-3597 (Electronic) IS - 0735-1097 (Linking) VI - 71 IP - 3 DP - 2018 Jan 23 TI - Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. PG - 279-288 LID - S0735-1097(17)41682-2 [pii] LID - 10.1016/j.jacc.2017.11.028 [doi] AB - BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. OBJECTIVES: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. METHODS: Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. RESULTS: We collected data for 52 patients (28 females, 24 males; 31.1 +/- 17.1 years of age; baseline LDL-C: 571.9 +/- 171.7 mg/dl). During a mean follow-up of 14.1 +/- 7.3 years, there was a significant increase in the use of high-intensity statin and ezetimibe in combination with lipoprotein apheresis; in 6 patients, lomitapide was also added. Mean LDL-C achieved at nadir was 164.0 +/- 85.1 mg/dl (-69.6% from baseline), with a better response in patients taking lomitapide (-88.3%). Overall, 23.1% of ARH patients reached LDL-C of <100 mg/dl. During follow-up, 26.9% of patients had incident ASCVD, and 11.5% had a new diagnosis of aortic valve stenosis (absolute risk per year of 1.9% and 0.8%, respectively). No incident stroke was observed. Age (>/=30 years) and the presence of coronary artery disease at diagnosis were the major predictors of incident ASCVD. CONCLUSIONS: Despite intensive treatment, LDL-C in ARH patients remains far from targets, and this translates into a poor long-term cardiovascular prognosis. Our data highlight the importance of an early diagnosis and treatment and confirm the fact that an effective treatment protocol for ARH is still lacking. CI - Copyright (c) 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. FAU - D'Erasmo, Laura AU - D'Erasmo L AD - Department of Internal Medicine and Clinical Specialties, Sapienza University of Rome, Rome, Italy. Electronic address: derasmolaura@gmail.com. FAU - Minicocci, Ilenia AU - Minicocci I AD - Department of Internal Medicine and Clinical Specialties, Sapienza University of Rome, Rome, Italy. FAU - Nicolucci, Antonio AU - Nicolucci A AD - Center for Outcomes Research and Clinical Epidemiology, Coreresearch, Inc., Pescara, Italy. FAU - Pintus, Paolo AU - Pintus P AD - Dipartimento Internistico, Centro per le Malattie Dismetaboliche e l'Arteriosclerosi, Cagliari, Italy. FAU - Roeters Van Lennep, Janine E AU - Roeters Van Lennep JE AD - Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands. FAU - Masana, Luis AU - Masana L AD - Research Unit on Lipids and Atherosclerosis, Vascular Medicine and Metabolism Unit, Sant Joan University Hospital, Universitat Rovira i Virgili, IISPV, Reus, Spain, and Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Madrid, Spain. FAU - Mata, Pedro AU - Mata P AD - Fundacion Hipercoesterolaemia Familiar, Madrid, Spain. FAU - Sanchez-Hernandez, Rosa Maria AU - Sanchez-Hernandez RM AD - Seccion de Endocrinologia y Nutricion, Complejo Hospitalario Universitario Insular Materno Infantil de Gran Canaria, Instituto Universitario de Investigacion Biomedica y Sanitaria (IUIBS) de la Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain. FAU - Prieto-Matos, Pablo AU - Prieto-Matos P AD - Unidad de Endocrinologia Pediatrica Hospital Universitario de Salamanca Instituto de Investigacion Biomedica de Salamanca, Salamanca, Spain. FAU - Real, Jose T AU - Real JT AD - Servicio de Endocrinologia y Nutricion, Hospital Clinico Valencia, Valencia, Spain, and Department of Medicine, University of Valencia, INCLIVA, CIBERDEM, Madrid, Spain. FAU - Ascaso, Juan F AU - Ascaso JF AD - Servicio de Endocrinologia y Nutricion, Hospital Clinico Valencia, Valencia, Spain, and Department of Medicine, University of Valencia, INCLIVA, CIBERDEM, Madrid, Spain. FAU - Lafuente, Eduardo Esteve AU - Lafuente EE AD - Servicio Endocrinologia y Nutricion, Hospital Universitario Josep Trueta, Girona, Spain. FAU - Pocovi, Miguel AU - Pocovi M AD - Departamento de Bioquimica y Biologia Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza & IIS Aragon, CIBERCV, Zaragoza, Spain. FAU - Fuentes, Francisco J AU - Fuentes FJ AD - Instituto Maimonides de Investigacion Biomedica de Cordoba, Hospital Universitario Reina Sofia, Universidad de Cordoba, Cordoba, Spain, and Centro de Investigacion Biomedica en Red de Fisiopatolgia de la Obesidad y Nutricion, Instituto de Salud Carlos III, Madrid, Spain. FAU - Muntoni, Sandro AU - Muntoni S AD - Department of Biomedical Sciences, University of Cagliari and Centre for Metabolic Diseases and Atherosclerosis, The ME.DI.CO Association, Cagliari, Italy. FAU - Bertolini, Stefano AU - Bertolini S AD - Department of Internal Medicine, University of Genova, Genova, Italy. FAU - Sirtori, Cesare AU - Sirtori C AD - Center E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita' degli Studi di Milano, and Dyslipidemia Center, Niguarda Hospital, Milan, Italy. FAU - Calabresi, Laura AU - Calabresi L AD - Center E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita' degli Studi di Milano, and Dyslipidemia Center, Niguarda Hospital, Milan, Italy. FAU - Pavanello, Chiara AU - Pavanello C AD - Center E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita' degli Studi di Milano, and Dyslipidemia Center, Niguarda Hospital, Milan, Italy. FAU - Averna, Maurizio AU - Averna M AD - Dipartimento Biomedico di Medicina Interna e Specialistica, Universita di Palermo, Palermo, Italy. FAU - Cefalu, Angelo Baldassare AU - Cefalu AB AD - Dipartimento Biomedico di Medicina Interna e Specialistica, Universita di Palermo, Palermo, Italy. FAU - Noto, Davide AU - Noto D AD - Dipartimento Biomedico di Medicina Interna e Specialistica, Universita di Palermo, Palermo, Italy. FAU - Pacifico, Adolfo Arturo AU - Pacifico AA AD - Unita Operativa Diabetologia e Malattie Metaboliche, Azienda Ospedaliero Universitaria, Sassari, Italy. FAU - Pes, Giovanni Mario AU - Pes GM AD - Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy. FAU - Harada-Shiba, Mariko AU - Harada-Shiba M AD - Department of Molecular Innovation in Lipidology, National Cardiovascular Center Research Institute, Suita, Osaka, Japan. FAU - Manzato, Enzo AU - Manzato E AD - University of Padova, Padova, Italy. FAU - Zambon, Sabina AU - Zambon S AD - University of Padova, Padova, Italy. FAU - Zambon, Alberto AU - Zambon A AD - University of Padova, Padova, Italy. FAU - Vogt, Anja AU - Vogt A AD - Medizinische Klinik und Poliklinik IV, Ludwig-Maximilians-Universitat (LMU) Klinikum der Universitat Munchen, Munich, Germany. FAU - Scardapane, Marco AU - Scardapane M AD - Center for Outcomes Research and Clinical Epidemiology, Coreresearch, Inc., Pescara, Italy. FAU - Sjouke, Barbara AU - Sjouke B AD - Department of Internal and Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. FAU - Fellin, Renato AU - Fellin R AD - Department of Medical Sciences, University of Ferrara, Ferrara, Italy. FAU - Arca, Marcello AU - Arca M AD - Department of Internal Medicine and Clinical Specialties, Sapienza University of Rome, Rome, Italy. Electronic address: marcello.arca@uniroma1.it. LA - eng PT - Journal Article PL - United States TA - J Am Coll Cardiol JT - Journal of the American College of Cardiology JID - 8301365 EIN - J Am Coll Cardiol. 2018 Mar 6;71(9):1058. PMID: 29495992 OTO - NOTNLM OT - atherosclerotic cardiovascular disease OT - autosomal recessive hypercholesterolemia OT - follow-up OT - lipid-lowering therapies OT - retrospective analysis EDAT- 2018/01/20 06:00 MHDA- 2018/01/20 06:00 CRDT- 2018/01/20 06:00 PHST- 2017/07/07 00:00 [received] PHST- 2017/10/16 00:00 [revised] PHST- 2017/11/06 00:00 [accepted] PHST- 2018/01/20 06:00 [entrez] PHST- 2018/01/20 06:00 [pubmed] PHST- 2018/01/20 06:00 [medline] AID - S0735-1097(17)41682-2 [pii] AID - 10.1016/j.jacc.2017.11.028 [doi] PST - ppublish SO - J Am Coll Cardiol. 2018 Jan 23;71(3):279-288. doi: 10.1016/j.jacc.2017.11.028. PMID- 29105679 OWN - NLM STAT- In-Process LR - 20190510 IS - 1827-6806 (Print) IS - 1827-6806 (Linking) VI - 18 IP - 11 DP - 2017 Nov TI - [A practical tool for easier compilation of AIFA (Italian Medicines Agency) web-based registry for PCSK9 inhibitor prescription]. PG - 805-807 LID - 10.1714/2803.28370 [doi] FAU - Bilato, Claudio AU - Bilato C AD - Cardiologia, Ospedali dell'Ovest Vicentino, Azienda ULSS 8 Berica, Arzignano, Vicenza e-mail: claudio.bilato@aulss8.veneto.it. FAU - Anselmi, Maurizio AU - Anselmi M AD - Cardiologia, Ospedale Fracastoro, Azienda ULSS 9 Scaligera, San Bonifacio, Verona. FAU - Cemin, Roberto AU - Cemin R AD - Cardiologia, Ospedale San Maurizio, Bolzano. FAU - Citroni, Nadia AU - Citroni N AD - Medicina Interna, Ospedale S. Chiara, Trento. FAU - Roncon, Loris AU - Roncon L AD - Cardiologia, Ospedale S. Maria della Misericordia, Azienda ULSS 5 Polesana, Rovigo. FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica I, Azienda Ospedaliera Universitaria, Padova. FAU - Zambon, Sabina AU - Zambon S AD - Clinica Medica I, Azienda Ospedaliera Universitaria, Padova. FAU - Zenti, Maria Grazia AU - Zenti MG AD - Endocrinologia e Malattie del Metabolismo, Azienda Ospedaliera Universitaria Integrata, Verona. LA - ita PT - Journal Article TT - Uno strumento (banale) per la compilazione (piu agevole) del Piano Terapeutico AIFA per la prescrizione degli inibitori della PCSK9. PL - Italy TA - G Ital Cardiol (Rome) JT - Giornale italiano di cardiologia (2006) JID - 101263411 EDAT- 2017/11/07 06:00 MHDA- 2017/11/07 06:00 CRDT- 2017/11/07 06:00 PHST- 2017/11/07 06:00 [entrez] PHST- 2017/11/07 06:00 [pubmed] PHST- 2017/11/07 06:00 [medline] AID - 10.1714/2803.28370 [doi] PST - ppublish SO - G Ital Cardiol (Rome). 2017 Nov;18(11):805-807. doi: 10.1714/2803.28370. PMID- 28965616 OWN - NLM STAT- MEDLINE DCOM- 20180611 LR - 20180611 IS - 1878-5050 (Electronic) IS - 1567-5688 (Linking) VI - 29 DP - 2017 Oct TI - Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. PG - 17-24 LID - S1567-5688(17)30091-0 [pii] LID - 10.1016/j.atherosclerosissup.2017.07.002 [doi] AB - BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). METHODS: We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). RESULTS: A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. CONCLUSIONS: This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress. CI - Copyright (c) 2017. Published by Elsevier B.V. FAU - Pirillo, Angela AU - Pirillo A AD - Center for the Study of Atherosclerosis, E. Bassini Hospital, Cinisello Balsamo, Milan, Italy. Electronic address: angela.pirillo@guestt.unimi.it. FAU - Garlaschelli, Katia AU - Garlaschelli K AD - Center for the Study of Atherosclerosis, E. Bassini Hospital, Cinisello Balsamo, Milan, Italy. FAU - Arca, Marcello AU - Arca M AD - Department of Internal Medicine and Medical Specialties, Sapienza University, Rome, Italy. FAU - Averna, Maurizio AU - Averna M AD - Biomedical Department of Internal Medicine and Specialistics (DIBIMIS), University of Palermo, Palermo, Italy. FAU - Bertolini, Stefano AU - Bertolini S AD - Department of Internal Medicine, University of Genoa, Genoa, Italy. FAU - Calandra, Sebastiano AU - Calandra S AD - Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. FAU - Tarugi, Patrizia AU - Tarugi P AD - Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. FAU - Catapano, Alberico L AU - Catapano AL AD - Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy. CN - LIPIGEN Group LA - eng PT - Journal Article PT - Multicenter Study PL - Netherlands TA - Atheroscler Suppl JT - Atherosclerosis. Supplements JID - 100973461 RN - 0 (APOB protein, human) RN - 0 (Apolipoprotein B-100) RN - 0 (Genetic Markers) RN - 0 (LDLR protein, human) RN - 0 (Receptors, LDL) RN - 97C5T2UQ7J (Cholesterol) RN - EC 3.4.21.- (PCSK9 protein, human) RN - EC 3.4.21.- (Proprotein Convertase 9) SB - IM MH - Apolipoprotein B-100/genetics MH - Atherosclerosis/blood/genetics/prevention & control MH - Cholesterol/*blood MH - DNA Mutational Analysis MH - Databases, Factual MH - Genetic Markers MH - Genetic Predisposition to Disease MH - Heterozygote MH - Homozygote MH - Humans MH - Hyperlipoproteinemia Type II/blood/diagnosis/*genetics/therapy MH - Italy MH - *Mutation MH - Phenotype MH - Preliminary Data MH - Prognosis MH - Proprotein Convertase 9/genetics MH - Receptors, LDL/genetics MH - Risk Factors OTO - NOTNLM OT - APOB OT - Familial hypercholesterolemia OT - LDLR OT - PCSK9 OT - Pathogenic variants IR - Arca M FIR - Arca, Marcello IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Averna M FIR - Averna, Maurizio IRAD- UO Medicina Interna e Malattie Metaboliche, Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo e delle dislipidemie genetiche, A.O.U. Policlinico "P. Giaccone", Palermo, Italy. IR - Bertolini S FIR - Bertolini, Stefano IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Calandra S FIR - Calandra, Sebastiano IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Catapano AL FIR - Catapano, Alberico Luigi IRAD- Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita degli Studi di Milano, IRCCS Multimedica, Milan, Italy. IR - Tarugi P FIR - Tarugi, Patrizia IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Pellegatta F FIR - Pellegatta, Fabio IRAD- Centro per lo Studio dell'Aterosclerosi, IRCCS Multimedica, Sesto San Giovanni, Italy. IR - Angelico F FIR - Angelico, Francesco IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Arca M FIR - Arca, Marcello IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Averna M FIR - Averna, Maurizio IRAD- UO Medicina Interna e Malattie Metaboliche, Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo e delle dislipidemie genetiche, A.O.U. Policlinico "P. Giaccone", Palermo, Italy. IR - Bartuli A FIR - Bartuli, Andrea IRAD- Ambulatorio Polispecialistico per le Malattie Rare, IRCCS Ospedale Pediatrico Bambino Gesu, Rome, Italy. IR - Biasucci G FIR - Biasucci, Giacomo IRAD- Centro Dislipidemie in Eta Evolutiva U.O. Pediatria e Neonatologia, Ospedale G. da Saliceto, Piacenza, Italy. IR - Biolo G FIR - Biolo, Gianni IRAD- S.S. Diabetologia e Malattie Metaboliche, U.C.O. Clinica Medica Generale, Azienda Ospedaliera Universitaria OORR, Ospedale Maggiore, Trieste, Italy. IR - Bonanni L FIR - Bonanni, Luca IRAD- Ambulatorio Dislipidemie, UO Medicina Interna, Ospedale dell'Angelo di Mestre, Venice, Italy. IR - Bonomo K FIR - Bonomo, Katia IRAD- AOU San Luigi Gonzaga, Orbassano, Turin, Italy. IR - Borghi C FIR - Borghi, Claudio IRAD- U.O. di Medicina Interna, Centro Aterosclerosi, Ambulatorio Dislipidemie, Ospedale Policlinico S. Orsola-Malpighi, Bologna, Italy. IR - Bossi AC FIR - Bossi, Antonio Carlo IRAD- U.O.C. Malattie Endocrine e Centro regionale per il Diabete (Diabetologia), Ospedale "Treviglio-Caravaggio" di Treviglio, Bergamo, Italy. IR - Branchi A FIR - Branchi, Adriana IRAD- Ambulatorio Dislipidemie, Centro per lo Studio e la Prevenzione dell'Arteriosclerosi, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Milan, Italy. IR - Carubbi F FIR - Carubbi, Francesca IRAD- U.O. Medicina ad indirizzo metabolico-nutrizionistico, Centro dislipidemie e centro di riferimento regionale per le malattie metaboliche rare, Nuovo Ospedale S. Agostino Estense (NOCSAE), Modena, Italy. IR - Cipollone F FIR - Cipollone, Francesco IRAD- Centro di alta specializzazione per la prevenzione dell'arteriosclerosi, centro di eccellenza ESH per l'ipertensione arteriosa, centro di riferimento regionale per le Dislipidemie, Ospedale Policlino S.S. Annunziata, Chieti, Italy. IR - Citroni N FIR - Citroni, Nadia IRAD- Centro Dislipidemia, UO Medicina Interna, Ospedale Santa Chiara, Trento, Italy. IR - Federici M FIR - Federici, Massimo IRAD- Dipartimento Medicina Interna - Centro per l'Aterosclerosi, Policlinico Universtario "Tor Vergata", Rome, Italy. IR - Ferri C FIR - Ferri, Claudio IRAD- Centro Ipertensione Arteriosa e Prevenzione Cardiovascolare, UOC Medicina Interna e Nefrologia, l'Aquila, Italy. IR - Fiorenza AM FIR - Fiorenza, Anna Maria IRAD- Dip. Medicina Interna, Centro Prevenzione e Cura dell'aterosclerosi, A.O. "Guido Salvini", Garbagnate Milanese, Milan, Italy. IR - Giaccari A FIR - Giaccari, Andrea IRAD- UOC Endocrinologia e Malattie del Metabolismo, Policlinico Gemelli, Rome, Italy. IR - Giorgino F FIR - Giorgino, Francesco IRAD- U.O. Endocrinologia, Ambulatori di Diabetologia e Malattie Metaboliche, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Guardamagna O FIR - Guardamagna, Ornella IRAD- U.O. Dislipidemie e Prevenzione Cardiovascolare, Ospedale Regina Margherita, Turin, Italy. IR - Iannuzzi A FIR - Iannuzzi, Arcangelo IRAD- U.O. Medicina Interna 5, Centro per le malattie da arteriosclerosi, AORN Cardarelli, Naples, Italy. IR - Iughetti L FIR - Iughetti, Lorenzo IRAD- U.O. Clinica Pediatrica, Policlinico di Modena, Modena, Italy. IR - Lupattelli G FIR - Lupattelli, Graziana IRAD- U.O. Medicina Interna Angiologia, Malattie da Arteriosclerosi, Ambulatorio di malattie del ricambio lipidico, Ospedale Santa Maria della Misericordia, Perugia, Italy. IR - Mandraffino G FIR - Mandraffino, Giuseppe IRAD- Dipartimento di Medicina Interna e Terapia Medica, Centro per la Diagnosi e Cura della Dislipidemia e Prevenzione dell'Aterosclerosi, A.O. Universitaria Policlinico "G. Martino", Messina, Italy. IR - Marcucci R FIR - Marcucci, Rossella IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Mombelli G FIR - Mombelli, Giuliana IRAD- Centro Universitario Dislipidemie "E. Grossi Paoletti", A.O. Ospedale Niguarda Ca' Granda, Milan, Italy. IR - Muntoni S FIR - Muntoni, Sandro IRAD- Centro per le Malattie Dismetaboliche e l'arteriosclerosi, Associazione ME.DI.CO Onlus, Cagliari, Italy. IR - Pecchioli V FIR - Pecchioli, Valerio IRAD- UOSD 'Prevenzione cardiovascolare', Dipartimento di Scienze Mediche, Azienda Sanitaria Locale Frosinone, Frosinone, Italy. IR - Pederiva C FIR - Pederiva, Cristina IRAD- U.O. Clinica Pediatrica, Servizio Clinico Dislipidemie per lo Studio e la Prevenzione dell'Aterosclerosi in eta pediatrica, Ospedale San Paolo, Milan, Italy. IR - Pipolo A FIR - Pipolo, Antonio IRAD- AOU San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy. IR - Pisciotta L FIR - Pisciotta, Livia IRAD- U.O. Clinica di Medicina Interna 1, Ambulatorio Dislipidemie, IRCCS - A.O.U. San Martino - IST, Genoa, Italy. IR - Pujia A FIR - Pujia, Arturo IRAD- A.O.U. Mater Domini, Catanzaro, UOC di Nutrizione Clinica, Ambulatorio Dislipidemie, Catanzaro, Italy. IR - Purrello F FIR - Purrello, Francesco IRAD- U.O. Medicina Interna, Ospedale "Garibaldi Nesima", Catania, Italy. IR - Repetti E FIR - Repetti, Elena IRAD- Societa di Diabetologia e Malattie Metaboliche, Asti, Italy. IR - Rubba P FIR - Rubba, Paolo IRAD- Centro Coordinamento regionale per le Iperlipidemie, AOU Policlinico Federico II, Naples, Italy. IR - Sabba C FIR - Sabba, Carlo IRAD- U.O. di Medicina Interna "Frugoni" e Centro di Assistenza e Ricerca Malattie Rare, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Sampietro T FIR - Sampietro, Tiziana IRAD- U.O. Lipoaferesi, Centro Regionale di Riferimento per la diagnosi e cura delle Dislipidemie Ereditarie, Fondazione Toscana "G. Monasterio", Pisa, Italy. IR - Sarzani R FIR - Sarzani, Riccardo IRAD- Clinica di Medicina Interna e Geriatria, Centro di riferimento regionale ipertensione arteriosa e malattie cardiovascolari, INRCA Ospedale "Sestilli" e Azienda Ospedaliero-Universitaria Ospedali Riuniti di Torrette di Ancona, Ancona, Italy. IR - Tagliabue MP FIR - Tagliabue, Milena Paola IRAD- SCDU Endocrinologia, Diabetologia e Metabolismo, Dipartimento di Scienze Mediche, Universita di Torino, Turin, Italy. IR - Trenti C FIR - Trenti, Chiara IRAD- Arcispedale S. Maria Nuova - Azienda ospedaliera di Reggio Emilia, Reggio Emilia, Italy. IR - Vigna GB FIR - Vigna, Giovanni Battista IRAD- U. O Medicina Interna Universitaria, Centro per lo Studio delle Dislipidemie e dell'Aterosclerosi Azienda Ospedaliero-Universitaria di Ferrara, Polo di Cona, Ferrara, Italy. IR - Werba JP FIR - Werba, Jose Pablo IRAD- U.O. Ambulatorio Prevenzione Aterosclerosi IRCCS Cardiologico Monzino, Milan, Italy. IR - Zambon S FIR - Zambon, Sabina IRAD- U. O. Clinica Medica 1, Centro Dislipidemie e Aterosclerosi, A.O. di Padova, Padua, Italy. IR - Zenti MG FIR - Zenti, Maria Grazia IRAD- U.O. Endocrinologia, Diabetologia e Malattie del Metabolismo, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica, A.O. Universitaria Integrata di Verona, Verona, Italy. IR - Montali A FIR - Montali, Anna IRAD- Centro per l'Arteriosclerosi, Dipartimento di Medicina Interna e Specialita Mediche, Universita di Roma "La Sapienza" - Azienda Policlinico Umberto I, Rome, Italy. IR - Noto D FIR - Noto, Davide IRAD- Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, O.S di Medicina Interna e Malattie metaboliche, Universita degli Studi di Palermo, Palermo, Italy. IR - Bertolini S FIR - Bertolini, Stefano IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Calandra S FIR - Calandra, Sebastiano IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Fortunato G FIR - Fortunato, Giuliana IRAD- Laboratorio di screening di Malattie Metaboliche, CEINGE - Biotecnologie Avanzate, Dipartimento di Biochimica e Biotecnologie Mediche, Azienda Ospedaliera Universitaria "Federico II", Naples, Italy. IR - Grigore L FIR - Grigore, Liliana IRAD- Centro per lo Studio dell'Aterosclerosi, IRCCS Multimedica, Sesto San Giovanni, Italy. IR - Del Ben M FIR - Del Ben, Maria IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Maranghi M FIR - Maranghi, Marianna IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Cefalu AB FIR - Cefalu, A Baldassarre IRAD- UO Medicina Interna e Malattie Metaboliche, Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo e delle dislipidemie genetiche, A.O.U. Policlinico "P. Giaccone", Palermo, Italy. IR - Buonuomo PS FIR - Buonuomo, Paola Sabrina IRAD- Ambulatorio Polispecialistico per le Malattie Rare, IRCCS Ospedale Pediatrico Bambino Gesu, Rome, Italy. IR - Capra ME FIR - Capra, Maria Elena IRAD- Centro Dislipidemie in Eta Evolutiva U.O. Pediatria e Neonatologia, Ospedale G. da Saliceto, Piacenza, Italy. IR - Vinci P FIR - Vinci, Pierandrea IRAD- S.S. Diabetologia e Malattie Metaboliche, U.C.O. Clinica Medica Generale, Azienda Ospedaliera Universitaria OORR, Ospedale Maggiore, Trieste, Italy. IR - D'Addato S FIR - D'Addato, Sergio IRAD- U.O. di Medicina Interna, Centro Aterosclerosi, Ambulatorio Dislipidemie, Ospedale Policlinico S. Orsola-Malpighi, Bologna, Italy. IR - Galbiati S FIR - Galbiati, Stella IRAD- U.O.C. Malattie Endocrine e Centro regionale per il Diabete (Diabetologia), Ospedale "Treviglio-Caravaggio" di Treviglio, Bergamo, Italy. IR - Nascimbeni F FIR - Nascimbeni, Fabio IRAD- U.O. Medicina ad indirizzo metabolico-nutrizionistico, Centro dislipidemie e centro di riferimento regionale per le malattie metaboliche rare, Nuovo Ospedale S. Agostino Estense (NOCSAE), Modena, Italy. IR - Bucci M FIR - Bucci, Marco IRAD- Centro di alta specializzazione per la prevenzione dell'arteriosclerosi, centro di eccellenza ESH per l'ipertensione arteriosa, centro di riferimento regionale per le Dislipidemie, Ospedale Policlino S.S. Annunziata, Chieti, Italy. IR - Spagnoli W FIR - Spagnoli, Walter IRAD- Centro Dislipidemia, UO Medicina Interna, Ospedale Santa Chiara, Trento, Italy. IR - Cardolini I FIR - Cardolini, Iris IRAD- Dipartimento Medicina Interna - Centro per l'Aterosclerosi, Policlinico Universtario "Tor Vergata", Rome, Italy. IR - Cervelli N FIR - Cervelli, Nazzareno IRAD- Centro Ipertensione Arteriosa e Prevenzione Cardiovascolare, UOC Medicina Interna e Nefrologia, l'Aquila, Italy. IR - Emanuela C FIR - Emanuela, Colombo IRAD- Dip. Medicina Interna, Centro Prevenzione e Cura dell'aterosclerosi, A.O. "Guido Salvini", Garbagnate Milanese, Milan, Italy. IR - Sun VA FIR - Sun, Vinsin A IRAD- UOC Endocrinologia e Malattie del Metabolismo, Policlinico Gemelli, Rome, Italy. IR - Laviola L FIR - Laviola, Luigi IRAD- U.O. Endocrinologia, Ambulatori di Diabetologia e Malattie Metaboliche, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Bello F FIR - Bello, Francesca IRAD- U.O. Dislipidemie e Prevenzione Cardiovascolare, Ospedale Regina Margherita, Turin, Italy. IR - Chiariello G FIR - Chiariello, Giuseppe IRAD- U.O. Medicina Interna 5, Centro per le malattie da arteriosclerosi, AORN Cardarelli, Naples, Italy. IR - Predieri B FIR - Predieri, Barbara IRAD- U.O. Clinica Pediatrica, Policlinico di Modena, Modena, Italy. IR - Siepi D FIR - Siepi, Donatella IRAD- U.O. Medicina Interna Angiologia, Malattie da Arteriosclerosi, Ambulatorio di malattie del ricambio lipidico, Ospedale Santa Maria della Misericordia, Perugia, Italy. IR - Saitta A FIR - Saitta, Antonino IRAD- Dipartimento di Medicina Interna e Terapia Medica, Centro per la Diagnosi e Cura della Dislipidemia e Prevenzione dell'Aterosclerosi, A.O. Universitaria Policlinico "G. Martino", Messina, Italy. IR - Giusti B FIR - Giusti, Betti IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Pavanello C FIR - Pavanello, Chiara IRAD- Centro Universitario Dislipidemie "E. Grossi Paoletti", A.O. Ospedale Niguarda Ca' Granda, Milan, Italy. IR - Lussu M FIR - Lussu, Milena IRAD- Centro per le Malattie Dismetaboliche e l'arteriosclerosi, Associazione ME.DI.CO Onlus, Cagliari, Italy. IR - Prati L FIR - Prati, Lucia IRAD- UOSD 'Prevenzione cardiovascolare', Dipartimento di Scienze Mediche, Azienda Sanitaria Locale Frosinone, Frosinone, Italy. IR - Banderali G FIR - Banderali, Giuseppe IRAD- U.O. Clinica Pediatrica, Servizio Clinico Dislipidemie per lo Studio e la Prevenzione dell'Aterosclerosi in eta pediatrica, Ospedale San Paolo, Milan, Italy. IR - Balleari G FIR - Balleari, Giulia IRAD- U.O. Clinica di Medicina Interna 1, Ambulatorio Dislipidemie, IRCCS - A.O.U. San Martino - IST, Genoa, Italy. IR - Montalcini T FIR - Montalcini, Tiziana IRAD- A.O.U. Mater Domini, Catanzaro, UOC di Nutrizione Clinica, Ambulatorio Dislipidemie, Catanzaro, Italy. IR - Scicali R FIR - Scicali, Roberto IRAD- U.O. Medicina Interna, Ospedale "Garibaldi Nesima", Catania, Italy. IR - Gentile L FIR - Gentile, Luigi IRAD- Societa di Diabetologia e Malattie Metaboliche, Asti, Italy. IR - Gentile M FIR - Gentile, Marco IRAD- Centro Coordinamento regionale per le Iperlipidemie, AOU Policlinico Federico II, Naples, Italy. IR - Suppressa P FIR - Suppressa, Patrizia IRAD- U.O. di Medicina Interna "Frugoni" e Centro di Assistenza e Ricerca Malattie Rare, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Sbrana F FIR - Sbrana, Francesco IRAD- U.O. Lipoaferesi, Centro Regionale di Riferimento per la diagnosi e cura delle Dislipidemie Ereditarie, Fondazione Toscana "G. Monasterio", Pisa, Italy. IR - Cocci G FIR - Cocci, Guido IRAD- Clinica di Medicina Interna e Geriatria, Centro di riferimento regionale ipertensione arteriosa e malattie cardiovascolari, INRCA Ospedale "Sestilli" e Azienda Ospedaliero-Universitaria Ospedali Riuniti di Torrette di Ancona, Ancona, Italy. IR - Benso A FIR - Benso, Andrea IRAD- SCDU Endocrinologia, Diabetologia e Metabolismo, Dipartimento di Scienze Mediche, Universita di Torino, Turin, Italy. IR - Negri EA FIR - Negri, Emanuele Alberto IRAD- Arcispedale S. Maria Nuova - Azienda ospedaliera di Reggio Emilia, Reggio Emilia, Italy. IR - Ghirardello O FIR - Ghirardello, Omar IRAD- U. O Medicina Interna Universitaria, Centro per lo Studio delle Dislipidemie e dell'Aterosclerosi Azienda Ospedaliero-Universitaria di Ferrara, Polo di Cona, Ferrara, Italy. IR - Lorenzo V FIR - Lorenzo, Vigo IRAD- U.O. Ambulatorio Prevenzione Aterosclerosi IRCCS Cardiologico Monzino, Milan, Italy. IR - Zambon A FIR - Zambon, Alberto IRAD- U. O. Clinica Medica 1, Centro Dislipidemie e Aterosclerosi, A.O. di Padova, Padua, Italy. IR - Enzo B FIR - Enzo, Bonora IRAD- U.O. Endocrinologia, Diabetologia e Malattie del Metabolismo, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica, A.O. Universitaria Integrata di Verona, Verona, Italy. IR - Minicocci I FIR - Minicocci, Ilenia IRAD- Centro per l'Arteriosclerosi, Dipartimento di Medicina Interna e Specialita Mediche, Universita di Roma "La Sapienza" - Azienda Policlinico Umberto I, Rome, Italy. IR - Spina R FIR - Spina, Rossella IRAD- Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, O.S di Medicina Interna e Malattie metaboliche, Universita degli Studi di Palermo, Palermo, Italy. IR - Orlando C FIR - Orlando, Camilla IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Tarugi P FIR - Tarugi, Patrizia IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Di Taranto MD FIR - Di Taranto, Maria Donata IRAD- Laboratorio di screening di Malattie Metaboliche, CEINGE - Biotecnologie Avanzate, Dipartimento di Biochimica e Biotecnologie Mediche, Azienda Ospedaliera Universitaria "Federico II", Naples, Italy. IR - Catapano AL FIR - Catapano, Alberico Luigi IRAD- Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita degli Studi di Milano, IRCCS Multimedica, Milan, Italy. IR - Casula M FIR - Casula, Manuela IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. IR - Chiodo L FIR - Chiodo, Lorenzo IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. IR - Garlaschelli K FIR - Garlaschelli, Katia IRAD- Centro per lo Studio dell'Aterosclerosi, Ospedale E. Bassini, Cinisello Balsamo, Milan, Italy. IR - Manzato E FIR - Manzato, Enzo IRAD- Dipartimento di Medicina (DIMED), Sezione Geriatrica, Universita di Padova, Padua, Italy. IR - Tragni E FIR - Tragni, Elena IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. EDAT- 2017/10/03 06:00 MHDA- 2018/06/12 06:00 CRDT- 2017/10/03 06:00 PHST- 2017/10/03 06:00 [entrez] PHST- 2017/10/03 06:00 [pubmed] PHST- 2018/06/12 06:00 [medline] AID - S1567-5688(17)30091-0 [pii] AID - 10.1016/j.atherosclerosissup.2017.07.002 [doi] PST - ppublish SO - Atheroscler Suppl. 2017 Oct;29:17-24. doi: 10.1016/j.atherosclerosissup.2017.07.002. PMID- 28965615 OWN - NLM STAT- MEDLINE DCOM- 20180611 LR - 20180611 IS - 1878-5050 (Electronic) IS - 1567-5688 (Linking) VI - 29 DP - 2017 Oct TI - Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). PG - 11-16 LID - S1567-5688(17)30090-9 [pii] LID - 10.1016/j.atherosclerosissup.2017.07.001 [doi] AB - BACKGROUND AND AIMS: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). METHODS: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. RESULTS AND CONCLUSIONS: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >/=6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. CI - Copyright (c) 2017. Published by Elsevier B.V. FAU - Averna, Maurizio AU - Averna M AD - Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S.), University of Palermo, Palermo, Italy. Electronic address: maurizio.averna@unipa.it. FAU - Cefalu, Angelo B AU - Cefalu AB AD - Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S.), University of Palermo, Palermo, Italy. FAU - Casula, Manuela AU - Casula M AD - Epidemiology and Preventive Pharmacology Centre (SEFAP), Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy. FAU - Noto, Davide AU - Noto D AD - Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S.), University of Palermo, Palermo, Italy. FAU - Arca, Marcello AU - Arca M AD - Department of Internal Medicine and Medical Specialties, Sapienza University, Rome, Italy. FAU - Bertolini, Stefano AU - Bertolini S AD - Department of Internal Medicine, University of Genoa, Genoa, Italy. FAU - Calandra, Sebastiano AU - Calandra S AD - Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. FAU - Catapano, Alberico L AU - Catapano AL AD - Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy. FAU - Tarugi, Patrizia AU - Tarugi P AD - Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. CN - LIPIGEN Group LA - eng PT - Journal Article PT - Multicenter Study PT - Observational Study PL - Netherlands TA - Atheroscler Suppl JT - Atherosclerosis. Supplements JID - 100973461 RN - 0 (Genetic Markers) RN - 97C5T2UQ7J (Cholesterol) SB - IM MH - Atherosclerosis/blood/diagnosis/*genetics/prevention & control MH - Cholesterol/*blood MH - DNA Mutational Analysis MH - Databases, Factual MH - Genetic Markers MH - Genetic Predisposition to Disease MH - Humans MH - Hyperlipoproteinemia Type II/blood/diagnosis/*genetics/therapy MH - Italy MH - *Mutation MH - Phenotype MH - Prognosis MH - Program Development MH - Prospective Studies MH - Retrospective Studies MH - Risk Factors OTO - NOTNLM OT - Dyslipidemias OT - Genetic testing OT - National network IR - Arca M FIR - Arca, Marcello IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Averna M FIR - Averna, Maurizio IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Bertolini S FIR - Bertolini, Stefano IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Calandra S FIR - Calandra, Sebastiano IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Catapano AL FIR - Catapano, Alberico Luigi IRAD- Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita degli Studi di Milano, and IRCCS Multimedica, Milan, Italy. IR - Tarugi P FIR - Tarugi, Patrizia IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Pellegatta F FIR - Pellegatta, Fabio IRAD- Centro per lo Studio dell'Aterosclerosi, IRCCS Multimedica, Sesto San Giovanni, Italy. IR - Angelico F FIR - Angelico, Francesco IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Arca M FIR - Arca, Marcello IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Averna M FIR - Averna, Maurizio IRAD- UO Medicina Clinica, Respiratoria e delle Urgenze, Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, A.O.U. Policlinico "P. Giaccone", Palermo, Italy. IR - Bartuli A FIR - Bartuli, Andrea IRAD- Ambulatorio Polispecialistico per le Malattie Rare, IRCCS Ospedale Pediatrico Bambino Gesu, Rome, Italy. IR - Biasucci G FIR - Biasucci, Giacomo IRAD- Centro Dislipidemie in Eta Evolutiva U.O. Pediatria e Neonatologia, Ospedale G. da Saliceto, Piacenza, Italy. IR - Biolo G FIR - Biolo, Gianni IRAD- S.S. Diabetologia e Malattie Metaboliche, U.C.O. Clinica Medica Generale, Azienda Ospedaliera Universitaria OORR, Ospedale Maggiore, Trieste, Italy. IR - Bonanni L FIR - Bonanni, Luca IRAD- Ambulatorio Dislipidemie, UO Medicina Interna, Ospedale dell'Angelo di Mestre, Venice, Italy. IR - Bonomo K FIR - Bonomo, Katia IRAD- AOU San Luigi Gonzaga, Orbassano, Turin, Italy. IR - Borghi C FIR - Borghi, Claudio IRAD- U.O. di Medicina Interna, Centro Aterosclerosi, Ambulatorio Dislipidemie, Ospedale Policlinico S. Orsola-Malpighi, Bologna, Italy. IR - Bossi AC FIR - Bossi, Antonio Carlo IRAD- U.O.C. Malattie Endocrine e Centro regionale per il Diabete (Diabetologia), Ospedale "Treviglio-Caravaggio" di Treviglio, Bergamo, Italy. IR - Branchi A FIR - Branchi, Adriana IRAD- Ambulatorio Dislipidemie, Centro per lo Studio e la Prevenzione dell'Arteriosclerosi, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Milan, Italy. IR - Carubbi F FIR - Carubbi, Francesca IRAD- U.O. Medicina ad indirizzo metabolico-nutrizionistico, Centro dislipidemie e centro di riferimento regionale per le malattie metaboliche rare, Nuovo Ospedale S. Agostino Estense (NOCSAE), Modena, Italy. IR - Cipollone F FIR - Cipollone, Francesco IRAD- Centro di alta specializzazione per la prevenzione dell'arteriosclerosi, centro di eccellenza ESH per l'ipertensione arteriosa, centro di riferimento regionale per le Dislipidemie, Ospedale Policlino S.S. Annunziata, Chieti, Italy. IR - Citroni N FIR - Citroni, Nadia IRAD- Centro Dislipidemia, UO Medicina Interna, Ospedale Santa Chiara, Trento, Italy. IR - Federici M FIR - Federici, Massimo IRAD- Dipartimento Medicina Interna - Centro per l'Aterosclerosi, Policlinico Universtario "Tor Vergata", Rome, Italy. IR - Ferri C FIR - Ferri, Claudio IRAD- Centro Ipertensione Arteriosa e Prevenzione Cardiovascolare UOC Medicina Interna e Nefrologia, L'Aquila, Italy. IR - Fiorenza AM FIR - Fiorenza, Anna Maria IRAD- Dip. Medicina Interna, Centro Prevenzione e Cura dell'aterosclerosi, A.O. "Guido Salvini", Garbagnate Milanese, Milan, Italy. IR - Giaccari A FIR - Giaccari, Andrea IRAD- UOC Endocrinologia e Malattie del Metabolismo, Policlinico Gemelli, Rome, Italy. IR - Giorgino F FIR - Giorgino, Francesco IRAD- U.O. Endocrinologia, Ambulatori di Diabetologia e Malattie Metaboliche, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Guardamagna O FIR - Guardamagna, Ornella IRAD- U.O. Dislipidemie e Prevenzione Cardiovascolare, Ospedale Regina Margherita, Turin, Italy. IR - Iannuzzi A FIR - Iannuzzi, Arcangelo IRAD- U.O. Medicina Interna 5, Centro per le malattie da arteriosclerosi, AORN Cardarelli, Naples, Italy. IR - Iughetti L FIR - Iughetti, Lorenzo IRAD- U.O. Clinica Pediatrica, Policlinico di Modena, Modena, Italy. IR - Lupattelli G FIR - Lupattelli, Graziana IRAD- U.O. Medicina Interna Angiologia, Malattie da Arteriosclerosi, Ambulatorio di malattie del ricambio lipidico, Ospedale Santa Maria della Misericordia, Perugia, Italy. IR - Mandraffino G FIR - Mandraffino, Giuseppe IRAD- Dipartimento di Medicina Interna e Terapia Medica, Centro per la Diagnosi e Cura della Dislipidemia e Prevenzione dell'Aterosclerosi, A.O. Universitaria Policlinico "G.Martino", Messina, Italy. IR - Marcucci R FIR - Marcucci, Rossella IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Mombelli G FIR - Mombelli, Giuliana IRAD- Centro Universitario Dislipidemie "E. Grossi Paoletti", A.O. Ospedale Niguarda Ca' Granda, Milan, Italy. IR - Muntoni S FIR - Muntoni, Sandro IRAD- Centro per le Malattie Dismetaboliche e l'arteriosclerosi, Associazione ME.DI.CO Onlus, Cagliari, Italy. IR - Pecchioli V FIR - Pecchioli, Valerio IRAD- UOSD 'Prevenzione cardiovascolare', Dipartimento di Scienze Mediche, Azienda Sanitaria Locale Frosinone, Frosinone, Italy. IR - Pederiva C FIR - Pederiva, Cristina IRAD- U.O. Clinica Pediatrica, Servizio Clinico Dislipidemie per lo Studio e la Prevenzione dell'Aterosclerosi in eta pediatrica, Ospedale San Paolo, Milan, Italy. IR - Pipolo A FIR - Pipolo, Antonio IRAD- AOU San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy. IR - Pisciotta L FIR - Pisciotta, Livia IRAD- U.O. Clinica di Medicina Interna 1, Ambulatorio Dislipidemie, IRCCS - A.O.U. San Martino - IST, Genoa, Italy. IR - Pujia A FIR - Pujia, Arturo IRAD- A.O.U. Mater Domini, Catanzaro, UOC di Nutrizione Clinica, Ambulatorio Dislipidemie, Catanzaro, Italy. IR - Purrello F FIR - Purrello, Francesco IRAD- U.O. Medicina Interna, Ospedale "Garibaldi Nesima", Catania, Italy. IR - Repetti E FIR - Repetti, Elena IRAD- Societa di Diabetologia e Malattie Metaboliche, Asti, Italy. IR - Rubba P FIR - Rubba, Paolo IRAD- Centro Coordinamento regionale per le Iperlipidemie, AOU Policlinico Federico II, Naples, Italy. IR - Sabba C FIR - Sabba, Carlo IRAD- U.O. di Medicina Interna "Frugoni" e Centro di Assistenza e Ricerca Malattie Rare, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Sampietro T FIR - Sampietro, Tiziana IRAD- U.O. Lipoaferesi, Centro Regionale di Riferimento per la diagnosi e cura delle Dislipidemie Ereditarie, Fondazione Toscana "G. Monasterio", Pisa, Italy. IR - Sarzani R FIR - Sarzani, Riccardo IRAD- Clinica di Medicina Interna e Geriatria, Centro di riferimento regionale ipertensione arteriosa e malattie cardiovascolari, INRCA Ospedale "Sestilli" e Azienda Ospedaliero-Universitaria Ospedali Riuniti di Torrette di Ancona, Ancona, Italy. IR - Tagliabue MP FIR - Tagliabue, Milena Paola IRAD- SCDU Endocrinologia, Diabetologia e Metabolismo, Dipartimento di Scienze Mediche, Universita di Torino, Turin, Italy. IR - Trenti C FIR - Trenti, Chiara IRAD- Arcispedale S. Maria Nuova - Azienda ospedaliera di Reggio Emilia, Reggio Emilia, Italy. IR - Vigna GB FIR - Vigna, Giovanni Battista IRAD- U. O Medicina Interna Universitaria, Centro per lo Studio delle Dislipidemie e dell'Aterosclerosi Azienda Ospedaliero-Universitaria di Ferrara, Polo di Cona, Ferrara, Italy. IR - Werba JP FIR - Werba, Jose Pablo IRAD- U.O. Ambulatorio Prevenzione Aterosclerosi IRCCS Cardiologico Monzino, Milan, Italy. IR - Zambon S FIR - Zambon, Sabina IRAD- U. O. Clinica Medica 1, Centro Dislipidemie e Aterosclerosi, A.O. di Padova, Padua, Italy. IR - Zenti MG FIR - Zenti, Maria Grazia IRAD- U.O. Endocrinologia, Diabetologia e Malattie del Metabolismo, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica, A.O. Universitaria Integrata di Verona, Verona, Italy. IR - Montali A FIR - Montali, Anna IRAD- Centro per l'Arteriosclerosi, Dipartimento di Medicina Interna e Specialita Mediche, Universita di Roma "La Sapienza" - Azienda Policlinico Umberto I, Rome, Italy. IR - Noto D FIR - Noto, Davide IRAD- Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, Universita degli Studi di Palermo, Palermo, Italy. IR - Bertolini S FIR - Bertolini, Stefano IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Calandra S FIR - Calandra, Sebastiano IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Fortunato G FIR - Fortunato, Giuliana IRAD- Laboratorio di screening di Malattie Metaboliche, CEINGE - Biotecnologie Avanzate, Dipartimento di Biochimica e Biotecnologie Mediche, Azienda Ospedaliera Universitaria "Federico II", Naples, Italy. IR - Grigore L FIR - Grigore, Liliana IRAD- Centro per lo Studio dell'Aterosclerosi, IRCCS Multimedica, Sesto San Giovanni, Italy. IR - Del Ben M FIR - Del Ben, Maria IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Maranghi M FIR - Maranghi, Marianna IRAD- Dipartimento di Medicina Interna e Specialita Mediche "La Sapienza", A.O. Policlinico Umberto I, Rome, Italy. IR - Cefalu AB FIR - Cefalu, Angelo B IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Barbagallo CM FIR - Barbagallo, Carlo M IRAD- UO Medicina Clinica, Respiratoria e delle Urgenze, Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, A.O.U. Policlinico "P. Giaccone", Palermo, Italy. IR - Buonuomo PS FIR - Buonuomo, Paola Sabrina IRAD- Ambulatorio Polispecialistico per le Malattie Rare, IRCCS Ospedale Pediatrico Bambino Gesu, Rome, Italy. IR - Capra ME FIR - Capra, Maria Elena IRAD- Centro Dislipidemie in Eta Evolutiva U.O. Pediatria e Neonatologia, Ospedale G. da Saliceto, Piacenza, Italy. IR - Vinci P FIR - Vinci, Pierandrea IRAD- S.S. Diabetologia e Malattie Metaboliche, U.C.O. Clinica Medica Generale, Azienda Ospedaliera Universitaria OORR, Ospedale Maggiore, Trieste, Italy. IR - D'Addato S FIR - D'Addato, Sergio IRAD- U.O. di Medicina Interna, Centro Aterosclerosi, Ambulatorio Dislipidemie, Ospedale Policlinico S. Orsola-Malpighi, Bologna, Italy. IR - Galbiati S FIR - Galbiati, Stella IRAD- U.O.C. Malattie Endocrine e Centro regionale per il Diabete (Diabetologia), Ospedale "Treviglio-Caravaggio" di Treviglio, Bergamo, Italy. IR - Nascimbeni F FIR - Nascimbeni, Fabio IRAD- U.O. Medicina ad indirizzo metabolico-nutrizionistico, Centro dislipidemie e centro di riferimento regionale per le malattie metaboliche rare, Nuovo Ospedale S. Agostino Estense (NOCSAE), Modena, Italy. IR - Bucci M FIR - Bucci, Marco IRAD- Centro di alta specializzazione per la prevenzione dell'arteriosclerosi, centro di eccellenza ESH per l'ipertensione arteriosa, centro di riferimento regionale per le Dislipidemie, Ospedale Policlino S.S. Annunziata, Chieti, Italy. IR - Spagnoli W FIR - Spagnoli, Walter IRAD- Centro Dislipidemia, UO Medicina Interna, Ospedale Santa Chiara, Trento, Italy. IR - Cardolini I FIR - Cardolini, Iris IRAD- Dipartimento Medicina Interna - Centro per l'Aterosclerosi, Policlinico Universtario "Tor Vergata", Rome, Italy. IR - Cervelli N FIR - Cervelli, Nazzareno IRAD- Centro Ipertensione Arteriosa e Prevenzione Cardiovascolare UOC Medicina Interna e Nefrologia, L'Aquila, Italy. IR - Emanuela C FIR - Emanuela, Colombo IRAD- Dip. Medicina Interna, Centro Prevenzione e Cura dell'aterosclerosi, A.O. "Guido Salvini", Garbagnate Milanese, Milan, Italy. IR - Vinsin AS FIR - Vinsin, A Sun IRAD- UOC Endocrinologia e Malattie del Metabolismo, Policlinico Gemelli, Rome, Italy. IR - Laviola L FIR - Laviola, Luigi IRAD- U.O. Endocrinologia, Ambulatori di Diabetologia e Malattie Metaboliche, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Bello F FIR - Bello, Francesca IRAD- U.O. Dislipidemie e Prevenzione Cardiovascolare, Ospedale Regina Margherita, Turin, Italy. IR - Chiariello G FIR - Chiariello, Giuseppe IRAD- U.O. Medicina Interna 5, Centro per le malattie da arteriosclerosi, AORN Cardarelli, Naples, Italy. IR - Predieri B FIR - Predieri, Barbara IRAD- U.O. Clinica Pediatrica, Policlinico di Modena, Modena, Italy. IR - Siepi D FIR - Siepi, Donatella IRAD- U.O. Medicina Interna Angiologia, Malattie da Arteriosclerosi, Ambulatorio di malattie del ricambio lipidico, Ospedale Santa Maria della Misericordia, Perugia, Italy. IR - Saitta A FIR - Saitta, Antonino IRAD- Dipartimento di Medicina Interna e Terapia Medica, Centro per la Diagnosi e Cura della Dislipidemia e Prevenzione dell'Aterosclerosi, A.O. Universitaria Policlinico "G.Martino", Messina, Italy. IR - Giusti B FIR - Giusti, Betti IRAD- Ambulatorio Malattie Aterotrombotiche, AOUC Azienda Ospedaliero-Universitaria Careggi, Florence, Italy. IR - Pavanello C FIR - Pavanello, Chiara IRAD- Centro Universitario Dislipidemie "E. Grossi Paoletti", A.O. Ospedale Niguarda Ca' Granda, Milan, Italy. IR - Lussu M FIR - Lussu, Milena IRAD- Centro per le Malattie Dismetaboliche e l'arteriosclerosi, Associazione ME.DI.CO Onlus, Cagliari, Italy. IR - Prati L FIR - Prati, Lucia IRAD- UOSD 'Prevenzione cardiovascolare', Dipartimento di Scienze Mediche, Azienda Sanitaria Locale Frosinone, Frosinone, Italy. IR - Banderali G FIR - Banderali, Giuseppe IRAD- U.O. Clinica Pediatrica, Servizio Clinico Dislipidemie per lo Studio e la Prevenzione dell'Aterosclerosi in eta pediatrica, Ospedale San Paolo, Milan, Italy. IR - Balleari G FIR - Balleari, Giulia IRAD- U.O. Clinica di Medicina Interna 1, Ambulatorio Dislipidemie, IRCCS - A.O.U. San Martino - IST, Genoa, Italy. IR - Montalcini T FIR - Montalcini, Tiziana IRAD- A.O.U. Mater Domini, Catanzaro, UOC di Nutrizione Clinica, Ambulatorio Dislipidemie, Catanzaro, Italy. IR - Scicali R FIR - Scicali, Roberto IRAD- U.O. Medicina Interna, Ospedale "Garibaldi Nesima", Catania, Italy. IR - Gentile L FIR - Gentile, Luigi IRAD- Societa di Diabetologia e Malattie Metaboliche, Asti, Italy. IR - Gentile M FIR - Gentile, Marco IRAD- Centro Coordinamento regionale per le Iperlipidemie, AOU Policlinico Federico II, Naples, Italy. IR - Suppressa P FIR - Suppressa, Patrizia IRAD- U.O. di Medicina Interna "Frugoni" e Centro di Assistenza e Ricerca Malattie Rare, A.O. Universitaria Policlinico Consorziale, Universita degli Studi di Bari "Aldo Moro", Bari, Italy. IR - Sbrana F FIR - Sbrana, Francesco IRAD- U.O. Lipoaferesi, Centro Regionale di Riferimento per la diagnosi e cura delle Dislipidemie Ereditarie, Fondazione Toscana "G. Monasterio", Pisa, Italy. IR - Cocci G FIR - Cocci, Guido IRAD- Clinica di Medicina Interna e Geriatria, Centro di riferimento regionale ipertensione arteriosa e malattie cardiovascolari, INRCA Ospedale "Sestilli" e Azienda Ospedaliero-Universitaria Ospedali Riuniti di Torrette di Ancona, Ancona, Italy. IR - Benso A FIR - Benso, Andrea IRAD- SCDU Endocrinologia, Diabetologia e Metabolismo, Dipartimento di Scienze Mediche, Universita di Torino, Turin, Italy. IR - Negri EA FIR - Negri, Emanuele Alberto IRAD- Arcispedale S. Maria Nuova - Azienda ospedaliera di Reggio Emilia, Reggio Emilia, Italy. IR - Ghirardello O FIR - Ghirardello, Omar IRAD- U. O Medicina Interna Universitaria, Centro per lo Studio delle Dislipidemie e dell'Aterosclerosi Azienda Ospedaliero-Universitaria di Ferrara, Polo di Cona, Ferrara, Italy. IR - Lorenzo V FIR - Lorenzo, Vigo IRAD- U.O. Ambulatorio Prevenzione Aterosclerosi IRCCS Cardiologico Monzino, Milan, Italy. IR - Zambon A FIR - Zambon, Alberto IRAD- U. O. Clinica Medica 1, Centro Dislipidemie e Aterosclerosi, A.O. di Padova, Padua, Italy. IR - Enzo B FIR - Enzo, Bonora IRAD- U.O. Endocrinologia, Diabetologia e Malattie del Metabolismo, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica, A.O. Universitaria Integrata di Verona, Verona, Italy. IR - Minicocci I FIR - Minicocci, Ilenia IRAD- Centro per l'Arteriosclerosi, Dipartimento di Medicina Interna e Specialita Mediche, Universita di Roma "La Sapienza" - Azienda Policlinico Umberto I, Rome, Italy. IR - Spina R FIR - Spina, Rossella IRAD- Centro di riferimento regionale per la prevenzione, diagnosi e cura delle malattie rare del metabolismo, Universita degli Studi di Palermo, Palermo, Italy. IR - Orlando C FIR - Orlando, Camilla IRAD- Centro Ambulatorio Dislipidemie - U.O. Clinica di Medicina Interna 1, O. Universitaria San Martino, Genua, Italy. IR - Tarugi P FIR - Tarugi, Patrizia IRAD- Laboratorio Sequenziamento Genomico, Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy. IR - Di Taranto MD FIR - Di Taranto, Maria Donata IRAD- Laboratorio di screening di Malattie Metaboliche, CEINGE - Biotecnologie Avanzate, Dipartimento di Biochimica e Biotecnologie Mediche, Azienda Ospedaliera Universitaria "Federico II", Naples, Italy. IR - Catapano AL FIR - Catapano, Alberico Luigi IRAD- Dipartimento di Scienze Farmacologiche e Biomolecolari, Universita degli Studi di Milano, and IRCCS Multimedica, Milan, Italy. IR - Casula M FIR - Casula, Manuela IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. IR - Chiodo L FIR - Chiodo, Lorenzo IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. IR - Garlaschelli K FIR - Garlaschelli, Katia IRAD- Centro per lo Studio dell'Aterosclerosi, Ospedale E. Bassini, Cinisello Balsamo, Milan, Italy. IR - Manzato E FIR - Manzato, Enzo IRAD- Dipartimento di Medicina (DIMED), Sezione Geriatrica, Universita di Padova, Padua, Italy. IR - Tragni E FIR - Tragni, Elena IRAD- Centro Universitario di Epidemiologia e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche e Biomolecolari, Universita degli Studi di Milano, Milan, Italy. EDAT- 2017/10/03 06:00 MHDA- 2018/06/12 06:00 CRDT- 2017/10/03 06:00 PHST- 2017/10/03 06:00 [entrez] PHST- 2017/10/03 06:00 [pubmed] PHST- 2018/06/12 06:00 [medline] AID - S1567-5688(17)30090-9 [pii] AID - 10.1016/j.atherosclerosissup.2017.07.001 [doi] PST - ppublish SO - Atheroscler Suppl. 2017 Oct;29:11-16. doi: 10.1016/j.atherosclerosissup.2017.07.001. PMID- 28401768 OWN - NLM STAT- MEDLINE DCOM- 20180528 LR - 20180528 IS - 1477-0970 (Electronic) IS - 1352-4585 (Linking) VI - 23 IP - 11 DP - 2017 Oct TI - Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case. PG - 1558-1561 LID - 10.1177/1352458517702550 [doi] AB - Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs. Brain and spinal magnetic resonance imaging (MRI) combined with cerebrospinal fluid (CSF) analysis prompted the diagnosis of MS. FAU - Zambon, Alberto Andrea AU - Zambon AA AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Cecchetti, Giordano AU - Cecchetti G AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Caso, Francesca AU - Caso F AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Santangelo, Roberto AU - Santangelo R AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Baldoli, Cristina AU - Baldoli C AD - Department of Neuroradiology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Natali Sora, Maria Grazia AU - Natali Sora MG AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Comi, Giancarlo AU - Comi G AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Magnani, Giuseppe AU - Magnani G AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. FAU - Martinelli, Vittorio AU - Martinelli V AD - Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy. LA - eng PT - Case Reports PT - Journal Article DEP - 20170412 PL - England TA - Mult Scler JT - Multiple sclerosis (Houndmills, Basingstoke, England) JID - 9509185 SB - IM MH - Adult MH - Cognitive Dysfunction/*diagnosis/etiology MH - Humans MH - Male MH - Mood Disorders/*diagnosis/etiology MH - Multiple Sclerosis, Chronic Progressive/complications/*diagnosis OTO - NOTNLM OT - Primary progressive multiple sclerosis OT - cognitive impairment OT - magnetic resonance imaging OT - progressive cognitive decline EDAT- 2017/04/13 06:00 MHDA- 2018/05/29 06:00 CRDT- 2017/04/13 06:00 PHST- 2017/04/13 06:00 [pubmed] PHST- 2018/05/29 06:00 [medline] PHST- 2017/04/13 06:00 [entrez] AID - 10.1177/1352458517702550 [doi] PST - ppublish SO - Mult Scler. 2017 Oct;23(11):1558-1561. doi: 10.1177/1352458517702550. Epub 2017 Apr 12. PMID- 28714995 OWN - NLM STAT- MEDLINE DCOM- 20171113 LR - 20171116 IS - 1827-6806 (Print) IS - 1827-6806 (Linking) VI - 18 IP - 7 DP - 2017 Jul-Aug TI - [The FOURIER study]. PG - 533-540 LID - 10.1714/2729.27819 [doi] FAU - Colivicchi, Furio AU - Colivicchi F AD - Divisione di Cardiologia, Presidio Ospedaliero San Filippo Neri, ASL Roma 1, Roma. FAU - Zambon, Alberto AU - Zambon A AD - Dipartimento di Medicina - DIMED, Universita degli Studi, Padova. LA - ita PT - Journal Article PT - Randomized Controlled Trial TT - Lo studio FOURIER. PL - Italy TA - G Ital Cardiol (Rome) JT - Giornale italiano di cardiologia (2006) JID - 101263411 RN - 0 (Antibodies, Monoclonal) RN - 0 (Anticholesteremic Agents) RN - 0 (Cholesterol, LDL) RN - EC 3.4.21.- (PCSK9 protein, human) RN - EC 3.4.21.- (Proprotein Convertase 9) RN - LKC0U3A8NJ (evolocumab) SB - IM MH - Antibodies, Monoclonal/*therapeutic use MH - Anticholesteremic Agents/*therapeutic use MH - Cholesterol, LDL/*drug effects MH - Coronary Artery Disease/blood/*drug therapy MH - Double-Blind Method MH - Female MH - Follow-Up Studies MH - Humans MH - Injections, Subcutaneous/methods MH - Male MH - Middle Aged MH - Proprotein Convertase 9/drug effects MH - Treatment Outcome EDAT- 2017/07/18 06:00 MHDA- 2017/11/14 06:00 CRDT- 2017/07/18 06:00 PHST- 2017/07/18 06:00 [entrez] PHST- 2017/07/18 06:00 [pubmed] PHST- 2017/11/14 06:00 [medline] AID - 10.1714/2729.27819 [doi] PST - ppublish SO - G Ital Cardiol (Rome). 2017 Jul-Aug;18(7):533-540. doi: 10.1714/2729.27819. PMID- 28190646 OWN - NLM STAT- MEDLINE DCOM- 20180221 LR - 20181113 IS - 1873-2364 (Electronic) IS - 0960-8966 (Linking) VI - 27 IP - 5 DP - 2017 May TI - Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. PG - 487-491 LID - S0960-8966(16)30977-4 [pii] LID - 10.1016/j.nmd.2017.01.006 [doi] AB - Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management. CI - Copyright (c) 2017 The Authors. Published by Elsevier B.V. All rights reserved. FAU - Zambon, Alberto Andrea AU - Zambon AA AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. Electronic address: zambon.alberto@hsr.it. FAU - Natali Sora, Maria Grazia AU - Natali Sora MG AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. FAU - Cantarella, Giovanna AU - Cantarella G AD - Otolaryngology Department, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan, Italy. FAU - Cerri, Federica AU - Cerri F AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. FAU - Quattrini, Angelo AU - Quattrini A AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. FAU - Comi, Giancarlo AU - Comi G AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. FAU - Previtali, Stefano Carlo AU - Previtali SC AD - Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Neuromuscular Repair Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. FAU - Bolino, Alessandra AU - Bolino A AD - Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. LA - eng GR - GGP12017/Telethon/Italy GR - GGP15012/Telethon/Italy PT - Case Reports PT - Journal Article PT - Review DEP - 20170116 PL - England TA - Neuromuscul Disord JT - Neuromuscular disorders : NMD JID - 9111470 RN - EC 3.1.3.48 (MTMR2 protein, human) RN - EC 3.1.3.48 (Protein Tyrosine Phosphatases, Non-Receptor) RN - Charcot-Marie-Tooth disease, Type 4B1 SB - IM MH - Charcot-Marie-Tooth Disease/*complications/*genetics/pathology/physiopathology MH - Diagnosis, Differential MH - Female MH - Humans MH - Infant MH - *Mutation MH - Phenotype MH - Protein Tyrosine Phosphatases, Non-Receptor/*genetics MH - Vocal Cord Paralysis/*etiology/*genetics/pathology/physiopathology PMC - PMC5425401 OTO - NOTNLM OT - Autosomal recessive neuropathy OT - CMT4B1 OT - MTMR2 OT - Vocal cord palsy OT - Vocal fold laterofixation EDAT- 2017/02/14 06:00 MHDA- 2018/02/22 06:00 CRDT- 2017/02/14 06:00 PHST- 2016/09/14 00:00 [received] PHST- 2016/11/21 00:00 [revised] PHST- 2017/01/09 00:00 [accepted] PHST- 2017/02/14 06:00 [pubmed] PHST- 2018/02/22 06:00 [medline] PHST- 2017/02/14 06:00 [entrez] AID - S0960-8966(16)30977-4 [pii] AID - 10.1016/j.nmd.2017.01.006 [doi] PST - ppublish SO - Neuromuscul Disord. 2017 May;27(5):487-491. doi: 10.1016/j.nmd.2017.01.006. Epub 2017 Jan 16. PMID- 27841824 OWN - NLM STAT- MEDLINE DCOM- 20180718 LR - 20180718 IS - 1558-2035 (Electronic) IS - 1558-2027 (Linking) VI - 18 Suppl 1 DP - 2017 Jan TI - Reducing cholesterol levels to decrease cardiovascular events: the role of new proprotein convertase subtilisin/kexin type 9 inhibitors. PG - e184-e186 LID - 10.2459/JCM.0000000000000468 [doi] FAU - Alberto, Zambon AU - Alberto Z AD - Department of Medicine - DIMED, University of Padua, Padua, Italy. LA - eng PT - Journal Article PL - United States TA - J Cardiovasc Med (Hagerstown) JT - Journal of cardiovascular medicine (Hagerstown, Md.) JID - 101259752 RN - 0 (Anticholesteremic Agents) RN - EC 3.4.21.- (PCSK9 protein, human) RN - EC 3.4.21.- (Proprotein Convertase 9) SB - IM MH - Anticholesteremic Agents/pharmacology/*therapeutic use MH - Cardiovascular Diseases/etiology/*prevention & control MH - Humans MH - Hypercholesterolemia/complications/*drug therapy MH - Proprotein Convertase 9/*antagonists & inhibitors EDAT- 2016/11/15 06:00 MHDA- 2018/07/19 06:00 CRDT- 2016/11/15 06:00 PHST- 2016/11/15 06:00 [pubmed] PHST- 2018/07/19 06:00 [medline] PHST- 2016/11/15 06:00 [entrez] AID - 10.2459/JCM.0000000000000468 [doi] PST - ppublish SO - J Cardiovasc Med (Hagerstown). 2017 Jan;18 Suppl 1:e184-e186. doi: 10.2459/JCM.0000000000000468. PMID- 27440829 OWN - NLM STAT- MEDLINE DCOM- 20171013 LR - 20190318 IS - 1935-5548 (Electronic) IS - 0149-5992 (Linking) VI - 39 Suppl 2 DP - 2016 Aug TI - SGLT2 Inhibitors and the Diabetic Kidney. PG - S165-71 LID - 10.2337/dcS15-3006 [doi] AB - Diabetic nephropathy (DN) is the most common cause of end-stage renal disease worldwide. Blood glucose and blood pressure control reduce the risk of developing this complication; however, once DN is established, it is only possible to slow progression. Sodium-glucose cotransporter 2 (SGLT2) inhibitors, the most recent glucose-lowering oral agents, may have the potential to exert nephroprotection not only through improving glycemic control but also through glucose-independent effects, such as blood pressure-lowering and direct renal effects. It is important to consider, however, that in patients with impaired renal function, given their mode of action, SGLT2 inhibitors are less effective in lowering blood glucose. In patients with high cardiovascular risk, the SGLT2 inhibitor empagliflozin lowered the rate of cardiovascular events, especially cardiovascular death, and substantially reduced important renal outcomes. Such benefits on DN could derive from effects beyond glycemia. Glomerular hyperfiltration is a potential risk factor for DN. In addition to the activation of the renin-angiotensin-aldosterone system, renal tubular factors, including SGLT2, contribute to glomerular hyperfiltration in diabetes. SGLT2 inhibitors reduce sodium reabsorption in the proximal tubule, causing, through tubuloglomerular feedback, afferent arteriole vasoconstriction and reduction in hyperfiltration. Experimental studies showed that SGLT2 inhibitors reduced hyperfiltration and decreased inflammatory and fibrotic responses of proximal tubular cells. SGLT2 inhibitors reduced glomerular hyperfiltration in patients with type 1 diabetes, and in patients with type 2 diabetes, they caused transient acute reductions in glomerular filtration rate, followed by a progressive recovery and stabilization of renal function. Interestingly, recent studies consistently demonstrated a reduction in albuminuria. Although these data are promising, only dedicated renal outcome trials will clarify whether SGLT2 inhibitors, in addition to their glycemic and blood pressure benefits, may provide nephroprotective effects. CI - (c) 2016 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. FAU - Fioretto, Paola AU - Fioretto P AD - Department of Medicine, University of Padua, Padua, Italy paola.fioretto@unipd.it. FAU - Zambon, Alberto AU - Zambon A AD - Department of Medicine, University of Padua, Padua, Italy. FAU - Rossato, Marco AU - Rossato M AD - Department of Medicine, University of Padua, Padua, Italy. FAU - Busetto, Luca AU - Busetto L AD - Department of Medicine, University of Padua, Padua, Italy. FAU - Vettor, Roberto AU - Vettor R AD - Department of Medicine, University of Padua, Padua, Italy. LA - eng PT - Journal Article PL - United States TA - Diabetes Care JT - Diabetes care JID - 7805975 RN - 0 (Benzhydryl Compounds) RN - 0 (Blood Glucose) RN - 0 (Glucosides) RN - 0 (Hypoglycemic Agents) RN - 0 (SLC5A2 protein, human) RN - 0 (Sodium-Glucose Transporter 2 Inhibitors) RN - HDC1R2M35U (empagliflozin) SB - IM MH - Albuminuria/complications/drug therapy/physiopathology MH - Benzhydryl Compounds/*therapeutic use MH - Blood Glucose/metabolism MH - Blood Pressure/drug effects/physiology MH - Cardiovascular Diseases/metabolism/prevention & control MH - Diabetes Mellitus, Type 1/blood/complications/drug therapy/physiopathology MH - Diabetes Mellitus, Type 2/complications/*drug therapy/physiopathology MH - Diabetic Nephropathies/physiopathology/*prevention & control MH - Glomerular Filtration Rate/drug effects/physiology MH - Glucosides/*therapeutic use MH - Humans MH - Hypoglycemic Agents/*therapeutic use MH - Kidney/*drug effects/physiopathology MH - Kidney Failure, Chronic/complications/drug therapy/physiopathology MH - Kidney Glomerulus/drug effects/physiopathology MH - Renin-Angiotensin System/drug effects MH - Risk Factors MH - *Sodium-Glucose Transporter 2 Inhibitors EDAT- 2016/07/22 06:00 MHDA- 2017/10/14 06:00 CRDT- 2016/07/22 06:00 PHST- 2016/07/22 06:00 [entrez] PHST- 2016/07/22 06:00 [pubmed] PHST- 2017/10/14 06:00 [medline] AID - 39/Supplement_2/S165 [pii] AID - 10.2337/dcS15-3006 [doi] PST - ppublish SO - Diabetes Care. 2016 Aug;39 Suppl 2:S165-71. doi: 10.2337/dcS15-3006. PMID- 28533705 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20181113 IS - 1520-765X (Print) IS - 1520-765X (Linking) VI - 18 IP - Suppl C DP - 2016 Apr 12 TI - Current practice in identifying and treating cardiovascular risk, with a focus on residual risk associated with atherogenic dyslipidaemia. PG - C2-C12 LID - 10.1093/eurheartj/suw009 [doi] AB - A panel of European experts on lipids and cardiovascular disease discussed clinical approaches to managing cardiovascular risk in clinical practice, including residual cardiovascular risk associated with lipid abnormalities, such as atherogenic dyslipidaemia (AD). A simplified definition of AD was proposed to enhance understanding of this condition, its prevalence, and its impact on cardiovascular risk. Atherogenic dyslipidaemia can be defined by high fasting triglyceride levels (>/=2.3 mmol/L) and low high-density lipoprotein cholesterol (HDL-c) levels (/=5.6 mmol/L), patients who are intolerant or resistant to statins, and patients with AD and at high cardiovascular risk. The fenofibrate-statin combination was considered by the experts to benefit from a favourable benefit-risk profile. Cardiovascular experts adopt a multifaceted approach to the prevention of atherosclerotic cardiovascular disease, with lifestyle optimization, LDL-lowering therapy, and treatment of AD with fenofibrate routinely used to help reduce a patient's overall cardiovascular risk. FAU - Ferrari, Roberto AU - Ferrari R AD - Department of Cardiology and LTTA Centre, University Hospital of Ferrara and Maria Cecilia Hospital, GVM Care & Research, E.S: Health Science Foundation, Cotignola, Italy. FAU - Aguiar, Carlos AU - Aguiar C AD - Hospital Santa Cruz, Centro Hospitalar de Lisboa Ocidental, EPE, Carnaxide, Portugal. FAU - Alegria, Eduardo AU - Alegria E AD - Cardiology Department, Policlinica Gipuzkoa, San Sebastian, Spain. FAU - Bonadonna, Riccardo C AU - Bonadonna RC AD - Division of Endocrinology, Department of Clinical and Experimental Medicine, University of Parma and Azienda Ospedaliera Universitaria of Parma, Parma, Italy. FAU - Cosentino, Francesco AU - Cosentino F AD - Cardiology Unit, Department of Medicine, Karolinska University Hospital, Stockholm, Sweden. FAU - Elisaf, Moses AU - Elisaf M AD - Department of Internal Medicine, University of Ioannina Medical School, Ioannina, Greece. FAU - Farnier, Michel AU - Farnier M AD - Lipid Clinic, Point Medical, Dijon, France. FAU - Ferrieres, Jean AU - Ferrieres J AD - Cardiovascular Preventive Department, Department of Cardiology, Toulouse University School of Medicine, Rangueil Hospital, Toulouse, France. FAU - Filardi, Pasquale Perrone AU - Filardi PP AD - Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy. FAU - Hancu, Nicolae AU - Hancu N AD - Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. FAU - Kayikcioglu, Meral AU - Kayikcioglu M AD - Department of Cardiology, Ege University Medical School, Izmir, Turkey. FAU - Mello E Silva, Alberto AU - Mello E Silva A AD - Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, EPE, Lisbon, Portugal. AD - Nova Medical School, Faculdade de Ciencias Medicas, Lisbon, Portugal. FAU - Millan, Jesus AU - Millan J AD - Internal Medicine Service, Hospital General Universitario Gregorio Maranon, Facultad de Medicina de la Universidad Complutense, Madrid, Spain. FAU - Reiner, Zeljko AU - Reiner Z AD - Department of Internal Medicine, University Hospital Center Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia. FAU - Tokgozoglu, Lale AU - Tokgozoglu L AD - Hacettepe University, Ankara, Turkey. FAU - Valensi, Paul AU - Valensi P AD - Department of Endocrinology Diabetology Nutrition, Jean Verdier Hospital, APHP, Paris Nord University, CRNH-IdF, CINFO, Bondy, France. FAU - Viigimaa, Margus AU - Viigimaa M AD - Institute of Cardiovascular Medicine, North Estonia Medical Centre, Tallinn University of Technology, Tallinn, Estonia. FAU - Vrablik, Michal AU - Vrablik M AD - Third Department of Internal Medicine, First Medical Faculty, Charles University, Prague, Czech Republic. FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica, Department of Medicine, University of Padova, Padova, Italy. FAU - Zamorano, Jose Luis AU - Zamorano JL AD - Head of Cardiology, University Alcala de Henares, Hospital Ramon y Cajal, Madrid, Spain. FAU - Catapano, Alberico L AU - Catapano AL AD - Department of Pharmacological and Biomolecular Sciences, University of Milan, IRCCS Multimedica, Milan, Italy. LA - eng PT - Journal Article PL - England TA - Eur Heart J Suppl JT - European heart journal supplements : journal of the European Society of Cardiology JID - 100886647 OTO - NOTNLM OT - Atherogenic dyslipidaemia OT - Cardiovascular risk OT - Fenofibrate OT - Fenofibrate-statin combination therapy OT - Residual cardiovascular risk OT - Statin EDAT- 2017/05/24 06:00 MHDA- 2017/05/24 06:01 CRDT- 2017/05/24 06:00 PHST- 2017/05/24 06:00 [entrez] PHST- 2017/05/24 06:00 [pubmed] PHST- 2017/05/24 06:01 [medline] AID - 10.1093/eurheartj/suw009 [doi] AID - suw009 [pii] PST - ppublish SO - Eur Heart J Suppl. 2016 Apr 12;18(Suppl C):C2-C12. doi: 10.1093/eurheartj/suw009. PMID- 27312020 OWN - NLM STAT- MEDLINE DCOM- 20160915 LR - 20161126 IS - 1827-6806 (Print) IS - 1827-6806 (Linking) VI - 17 IP - 4 Suppl 1 DP - 2016 Apr TI - [Heterozygous familial hypercholesterolemia: the first challenge for anti-PCSK9 monoclonal antibodies]. PG - 22S-30 LID - 10.1714/2254.24280 [doi] AB - Heterozygous familial hypercholesterolemia (HeFH) is characterized by a prevalence of 1/200 (higher than 1/500 as previously estimated): based on this updated prevalence, in Italy there are about 250-300 000 subjects with HeFH. Patients with HeFH are significantly underdiagnosed (in Italy only 4-5% of total estimated HeFH are properly diagnosed), undertreated (only 1 in 5 to 10 HeFH at target for LDL-cholesterol), and characterized by a high or very high cardiovascular risk. There are simple criteria for the diagnosis of familial hypercholesterolemia such as those issued by the Dutch Lipid Clinic Network (DLCN), easy to implement both in general practice as well as by the specialists. Genetic diagnosis is strongly suggested to support the diagnosis of familial hypercholesterolemia. Lipid-lowering therapy with high dose of highly effective statins, often associated with ezetimibe, should be initiated immediately at diagnosis in adults and at age 8-10 years in childhood. Evolocumab and alirocumab are monoclonal antibodies against PCSK9. They are a highly innovative lipid-lowering approach, characterized by a good safety profile and a remarkable LDL-cholesterol lowering effect when associated with the maximally tolerated dose of statins plus ezetimibe. Studies with alirocumab and evolocumab in HeFH patients show a further LDL-cholesterol decrease by 50-60% vs intensive lipid-lowering therapy with statins +/- ezetimibe, with 70-80% of HeFH patients achieving their LDL-cholesterol targets. FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica 1, Dipartimento di Medicina, Universita degli Studi, Padova. LA - ita PT - Journal Article TT - L'ipercolesterolemia familiare eterozigote: la prima sfida per gli anticorpi monoclonali anti-PCSK9. PL - Italy TA - G Ital Cardiol (Rome) JT - Giornale italiano di cardiologia (2006) JID - 101263411 RN - 0 (Antibodies, Monoclonal) RN - 0 (Anticholesteremic Agents) RN - EC 3.4.21.- (PCSK9 protein, human) RN - EC 3.4.21.- (Proprotein Convertase 9) RN - EC 3.4.21.- (Proprotein Convertases) RN - EC 3.4.21.- (Serine Endopeptidases) SB - IM MH - Antibodies, Monoclonal/*therapeutic use MH - Anticholesteremic Agents/therapeutic use MH - Cardiovascular Diseases/etiology MH - Heterozygote MH - Humans MH - Hyperlipoproteinemia Type II/complications/*diagnosis/*drug therapy/genetics MH - Pedigree MH - Proprotein Convertase 9 MH - Proprotein Convertases/*immunology MH - Risk Factors MH - Serine Endopeptidases/*immunology EDAT- 2016/06/18 06:00 MHDA- 2016/09/16 06:00 CRDT- 2016/06/18 06:00 PHST- 2016/06/18 06:00 [entrez] PHST- 2016/06/18 06:00 [pubmed] PHST- 2016/09/16 06:00 [medline] AID - 10.1714/2254.24280 [doi] PST - ppublish SO - G Ital Cardiol (Rome). 2016 Apr;17(4 Suppl 1):22S-30. doi: 10.1714/2254.24280. PMID- 27312018 OWN - NLM STAT- MEDLINE DCOM- 20160915 LR - 20160617 IS - 1827-6806 (Print) IS - 1827-6806 (Linking) VI - 17 IP - 4 Suppl 1 DP - 2016 Apr TI - [Hypercholesterolemia and cardiovascular risk: advantages and limitations of current treatment options]. PG - 6S-13 LID - 10.1714/2254.24276 [doi] AB - Cardiovascular disease is the leading cause of premature death in Europe. High blood cholesterol is one of the major cardiovascular risk factors and plays a crucial role in causing cardiovascular disease. A strong positive and linear association between total and LDL cholesterol levels and the risk of cardiovascular events has been widely documented. Every 1.0 mmol/l decrease in LDL cholesterol levels results in a significant reduction in cardiovascular mortality and in the risk of nonfatal myocardial infarction. Lipid-lowering guidelines suggest as first step the use of statins as monotherapy and, in case of failure to achieve the recommended targets, combination therapy of statins with other cholesterol-lowering drugs such as ezetimibe. The results from the recent IMPROVE-IT trial provide evidence that further LDL-cholesterol lowering beyond the recommended targets significantly reduces the rate of cardiovascular events, supporting the concept that "Lower Is Better" while additional long-term data are collected. Non-adherence to statin therapy, often due to adverse drug reactions, results in an increased risk for cardiovascular events. In a non-negligible proportion of patients with hypercholesterolemia receiving maximally tolerated statin therapy, the residual risk remains high. In addition, statin use has been associated with accelerated onset of diabetes in individuals already predisposed to developing diabetes. In conclusion, it is clear that statins are not the universal solution to the problem of high cholesterol levels, and the optimization of lipid-lowering therapy remains a therapeutic challenge. FAU - Cimminiello, Claudio AU - Cimminiello C AD - Ufficio Studi e Ricerche, Societa Italiana di Angiologia e Patologia Vascolare, Roma. FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica 1, Dipartimento di Medicina, Universita degli Studi, Padova. FAU - Polo Friz, Hernan AU - Polo Friz H AD - Medicina Generale, Ospedale di Vimercate, Azienda Socio-Sanitaria Territoriale di Vimercate, Vimercate (MB). LA - ita PT - English Abstract PT - Journal Article TT - Colesterolo e rischio cardiovascolare: pregi e limiti delle attuali terapie. PL - Italy TA - G Ital Cardiol (Rome) JT - Giornale italiano di cardiologia (2006) JID - 101263411 RN - 0 (Anticholesteremic Agents) SB - IM MH - Anticholesteremic Agents/*therapeutic use MH - Cardiovascular Diseases/*etiology/*prevention & control MH - Humans MH - Hypercholesterolemia/*complications/*drug therapy MH - Risk Factors EDAT- 2016/06/18 06:00 MHDA- 2016/09/16 06:00 CRDT- 2016/06/18 06:00 PHST- 2016/06/18 06:00 [entrez] PHST- 2016/06/18 06:00 [pubmed] PHST- 2016/09/16 06:00 [medline] AID - 10.1714/2254.24276 [doi] PST - ppublish SO - G Ital Cardiol (Rome). 2016 Apr;17(4 Suppl 1):6S-13. doi: 10.1714/2254.24276. PMID- 26811267 OWN - NLM STAT- MEDLINE DCOM- 20170130 LR - 20170727 IS - 1578-1879 (Electronic) IS - 0214-9168 (Linking) VI - 28 IP - 2 DP - 2016 Mar-Apr TI - [Consensus for pharmacologic treatment of atherogenic dyslipidemia with statin-fenofibrate combined therapy]. PG - 87-93 LID - 10.1016/j.arteri.2015.12.001 [doi] LID - S0214-9168(15)00171-0 [pii] AB - LDLc levels are associated with increase of cardiovascular risk, and statins are currently used for their control. Nevertheless, a despite of LDLc levels at goal, a residual risk is persistent, commonly associated with persistent lipids modifications (high triglycerides and low HDLc). So, it is necessary to evaluate triglycerides and HDL to assessment cardiovascular risk. Clinical data are consistent with efficacy and safety of combination therapy with statin and other lipid lowering drugs, for instance fenofibrate. Patients with hipertriglyceridemia and low HDLc are the group with most potential improve. In that patients with atherogenic dyslipidemia, the target for therapeutic objectives related with non-HDL-cholesterol is a priority, because non-HDL-cholesterol is considered as a more accuracy measure to assessment cardiovascular risk. CI - Copyright (c) 2015. Published by Elsevier Espana. CN - Panel Europeo de Expertos. Version Espanola del Grupo de trabajo sobre Dislipemia Aterogenica LA - spa PT - Journal Article TT - Consenso sobre tratamiento farmacologico de la dislipidemia aterogenica con terapia combinada estatina-fenofibrato. DEP - 20160119 PL - Spain TA - Clin Investig Arterioscler JT - Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis JID - 9208512 RN - 0 (Cholesterol, HDL) RN - 0 (Cholesterol, LDL) RN - 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors) RN - 0 (Hypolipidemic Agents) RN - 0 (Triglycerides) RN - U202363UOS (Fenofibrate) SB - IM MH - Atherosclerosis/*drug therapy/pathology MH - Cardiovascular Diseases/blood/prevention & control MH - Cholesterol, HDL/blood MH - Cholesterol, LDL/blood MH - Consensus MH - Drug Therapy, Combination MH - Dyslipidemias/*drug therapy/pathology MH - Fenofibrate/administration & dosage/*therapeutic use MH - Humans MH - Hydroxymethylglutaryl-CoA Reductase Inhibitors/administration & dosage/*therapeutic use MH - Hypolipidemic Agents/administration & dosage/therapeutic use MH - Triglycerides/blood OTO - NOTNLM OT - *Asociacion estatina-fenofibrato OT - *Atherogenic dyslipidemia OT - *Dislipidemia aterogenica OT - *Lipid lowering combination therapy OT - *Statine-fenofibrate association OT - *Terapia combinada hipolipemiante IR - Aguiar C FIR - Aguiar, Carlos IR - Alegria E FIR - Alegria, Eduardo IR - Bonnadonna RC FIR - Bonnadonna, Ricardo C IR - Catapano AL FIR - Catapano, Alberico L IR - Consentido F FIR - Consentido, Francesco IR - Elisaf M FIR - Elisaf, Moses IR - Farnier M FIR - Farnier, Michel IR - Fierrieres J FIR - Fierrieres, Jean IR - Filardi PP FIR - Filardi, Pasquale Perronre IR - Hancu N FIR - Hancu, Nicolae IR - Kayikcioglu M FIR - Kayikcioglu, Meral IR - Mello e Silva A FIR - Mello e Silva, Alberto IR - Millan J FIR - Millan, Jesus IR - Reiner Z FIR - Reiner, Zeljko IR - Tokgozoglu L FIR - Tokgozoglu, Lale IR - Valensi P FIR - Valensi, Paul IR - Viigimaa M FIR - Viigimaa, Margas IR - Vrablik M FIR - Vrablik, Michal IR - Zambon A FIR - Zambon, Alberto IR - Zamorano JL FIR - Zamorano, Jose Luis IR - Ferrari R FIR - Ferrari, Roberto IR - Millan J FIR - Millan, Jesus IR - Blasco M FIR - Blasco, Mariano IR - Brea A FIR - Brea, Angel IR - Diaz A FIR - Diaz, Angel IR - Santos PG FIR - Santos, Pedro Gonzales IR - Hernandez Mijares A FIR - Hernandez Mijares, Antonio IR - Mantilla T FIR - Mantilla, Teresa IR - Pedro-Botet J FIR - Pedro-Botet, Juan IR - Pinto X FIR - Pinto, Xavier EDAT- 2016/01/27 06:00 MHDA- 2017/01/31 06:00 CRDT- 2016/01/27 06:00 PHST- 2015/12/23 00:00 [received] PHST- 2016/01/27 06:00 [entrez] PHST- 2016/01/27 06:00 [pubmed] PHST- 2017/01/31 06:00 [medline] AID - S0214-9168(15)00171-0 [pii] AID - 10.1016/j.arteri.2015.12.001 [doi] PST - ppublish SO - Clin Investig Arterioscler. 2016 Mar-Apr;28(2):87-93. doi: 10.1016/j.arteri.2015.12.001. Epub 2016 Jan 19. PMID- 26315511 OWN - NLM STAT- MEDLINE DCOM- 20160504 LR - 20150828 IS - 1878-5050 (Electronic) IS - 1567-5688 (Linking) VI - 19 DP - 2015 Sep TI - A review of the evidence on reducing macrovascular risk in patients with atherogenic dyslipidaemia: A report from an expert consensus meeting on the role of fenofibrate-statin combination therapy. PG - 1-12 LID - 10.1016/S1567-5688(15)30001-5 [doi] LID - S1567-5688(15)30001-5 [pii] AB - A meeting of European experts in cardiovascular (CV) disease and lipids was convened in Paris, France, on 10 November 2014 to discuss lipid profile, and in particular atherogenic dyslipidaemia (AD), and associated CV risk. Key points that were raised and discussed during the meeting are summarised in this paper, which also accounts for further discussion and agreement on these points by the group of experts. Elevated levels of low-density lipoprotein cholesterol (LDL-c) are commonly associated with a greater CV risk than low LDL-c levels, and are routinely managed with statins. However, even for patients controlled on statins and achieving low LDL-c levels, abnormal lipid profiles observed in some patients (i.e. elevated triglyceride levels, with/without low levels of high-density lipoprotein cholesterol [HDL-c]) have been linked to the presence of a residual CV risk. Therefore, it is recommended that both triglyceride and HDL-c levels be measured, to allow for the overall CV residual risk to be adequately managed. Favourable safety and clinical data support the combination of statins with other lipid-lowering agents, such as fenofibrate. Patients who have elevated triglyceride levels plus low levels of HDL-c are most likely to achieve clinical benefit from fenofibrate-statin combination therapy. In these patients with AD, achieving target non-HDL-c levels should be a key focus of CV risk management, and the use of non-HDL-c was advocated to provide a better measure of CV risk than LDL-c levels. CI - (c) 2015 Elsevier Ireland Ltd. All rights reserved. FAU - Aguiar, Carlos AU - Aguiar C AD - Hospital Santa Cruz, Centro Hospitalar de Lisboa Ocidental, EPE, Carnaxide, Portugal. FAU - Alegria, Eduardo AU - Alegria E AD - Cardiology Department, Policlinica Gipuzkoa, San Sebastian, Spain. FAU - Bonadonna, Riccardo C AU - Bonadonna RC AD - Division of Endocrinology, Department of Clinical and Experimental Medicine, University of Parma and Azienda Ospedaliera Universitaria of Parma, Italy. FAU - Catapano, Alberico L AU - Catapano AL AD - Department of Pharmacological and Biomolecular Sciences, University of Milan, IRCCS Multimedica, Milan, Italy. Electronic address: alberico.catapano@unimi.it. FAU - Cosentino, Francesco AU - Cosentino F AD - Cardiology Unit, Department of Medicine, Karolinska University Hospital, Stockholm, Sweden. FAU - Elisaf, Moses AU - Elisaf M AD - Department of Internal Medicine, University of Ioannina Medical School, Greece. FAU - Farnier, Michel AU - Farnier M AD - Point Medical, Dijon, France. FAU - Ferrieres, Jean AU - Ferrieres J AD - Department of Cardiology, Toulouse University School of Medicine, Rangueil Hospital, Toulouse, France. FAU - Filardi, Pasquale Perrone AU - Filardi PP AD - Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy. FAU - Hancu, Nicolae AU - Hancu N AD - Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. FAU - Kayikcioglu, Meral AU - Kayikcioglu M AD - Department of Cardiology, Ege University Medical School, Izmir, Turkey. FAU - Mello E Silva, Alberto AU - Mello E Silva A AD - Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal. FAU - Millan, Jesus AU - Millan J AD - Hospital General Universitario Gregorio Maranon, Facultad de Medicina de la Universidad Complutense, Madrid, Spain. FAU - Reiner, Zeljko AU - Reiner Z AD - University Hospital Center, School of Medicine, University of Zagreb, Croatia. FAU - Tokgozoglu, Lale AU - Tokgozoglu L AD - Hacettepe University, Ankara, Turkey. FAU - Valensi, Paul AU - Valensi P AD - Department of Endocrinology Diabetology Nutrition, Jean Verdier Hospital, APHP, Paris Nord University, CRNH-IdF, CINFO, Bondy, France. FAU - Viigimaa, Margus AU - Viigimaa M AD - North Estonia Medical Centre, Tallinn University of Technology, Estonia. FAU - Vrablik, Michal AU - Vrablik M AD - 3rd Department of Internal Medicine, 1st Medical Faculty, Charles University, Prague, Czech Republic. FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica, Department of Medicine, University of Padova, Italy. FAU - Zamorano, Jose Luis AU - Zamorano JL AD - University Alcala de Henares, Hospital Ramon y Cajal, Madrid, Spain. FAU - Ferrari, Roberto AU - Ferrari R AD - Department of Cardiology and LTTA Centre, University Hospital of Ferrara and Maria Cecilia Hospital, GVM Care & Research, E.S: Health Science Foundation, Cotignola, Italy. LA - eng PT - Consensus Development Conference PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Netherlands TA - Atheroscler Suppl JT - Atherosclerosis. Supplements JID - 100973461 RN - 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors) RN - 0 (Hypolipidemic Agents) RN - 0 (Lipids) RN - U202363UOS (Fenofibrate) SB - IM MH - Atherosclerosis/*drug therapy MH - Cardiovascular Diseases/*prevention & control MH - Diabetes Mellitus, Type 2/complications/drug therapy MH - Drug Therapy, Combination MH - Dyslipidemias/*drug therapy MH - Europe MH - Fenofibrate/*therapeutic use MH - Humans MH - Hydroxymethylglutaryl-CoA Reductase Inhibitors/*therapeutic use MH - Hypolipidemic Agents/*therapeutic use MH - Lipids/blood MH - Paris OTO - NOTNLM OT - Atherogenic dyslipidaemia OT - cardiovascular risk OT - cholesterol OT - combination therapy OT - fenofibrate OT - statins OT - triglycerides EDAT- 2015/09/01 06:00 MHDA- 2016/05/05 06:00 CRDT- 2015/08/29 06:00 PHST- 2015/08/29 06:00 [entrez] PHST- 2015/09/01 06:00 [pubmed] PHST- 2016/05/05 06:00 [medline] AID - S1567-5688(15)30001-5 [pii] AID - 10.1016/S1567-5688(15)30001-5 [doi] PST - ppublish SO - Atheroscler Suppl. 2015 Sep;19:1-12. doi: 10.1016/S1567-5688(15)30001-5. PMID- 25129033 OWN - NLM STAT- MEDLINE DCOM- 20160204 LR - 20181113 IS - 1590-1262 (Electronic) IS - 1124-4909 (Linking) VI - 20 IP - 2 DP - 2015 Jun TI - Ultrasound, anthropometry and bioimpedance: a comparison in predicting fat deposition in non-alcoholic fatty liver disease. PG - 241-7 LID - 10.1007/s40519-014-0146-z [doi] AB - PURPOSE: The aim of our study was the evaluation of anthropometric measurements [waist circumference and sagittal abdominal diameter (SAD)] and abdominal bioelectrical impedance analysis (BIA) (ViScan, TANITA) in comparison to several abdominal ultrasonographic (US) measurements to estimate visceral fat deposition and liver steatosis in a population of 105 subjects. METHODS: All 105 patients underwent a complete anthropometric evaluation, blood sample for the determination of total cholesterol, HDL cholesterol, triglycerides, glucose, insulin, high-sensitivity C-reactive protein, BIA and US measurements (peritoneal, pre-peritoneal, peri-renal, para-renal and peri-hepatic fat thickness). RESULTS: All the ultrasonographic markers considered in our study are related to the presence of non-alcoholic fatty liver disease (NAFLD), and so is true for SAD. Comparing ROC curves, peritoneal fat tissue thickness, SAD and ViScan visceral index are significantly better than waist circumference in predicting the presence of NAFLD (AUC 0.79 +/- 0.04; 0.81 +/- 0.05; 0.82 +/- 0.04 vs 0.76 +/- 0.05, respectively). CONCLUSIONS: According to our data, various methods may be useful in evaluating NAFLD, but only ViScan visceral index, US peritoneal fat thickness and SAD are better than waist circumference. Among them, SAD is the most promising, due to its small cost and time consumption. FAU - Vitturi, Nicola AU - Vitturi N AD - Division of Metabolic Diseases, Department of Medicine, University Hospital of Padova-Italy, Via Giustiniani 2, 35128, Padova, Italy, nvitturi@gmail.com. FAU - Soattin, Marta AU - Soattin M FAU - De Stefano, Fabio AU - De Stefano F FAU - Vianello, Daniela AU - Vianello D FAU - Zambon, Alberto AU - Zambon A FAU - Plebani, Mario AU - Plebani M FAU - Busetto, Luca AU - Busetto L LA - eng PT - Journal Article DEP - 20140817 PL - Germany TA - Eat Weight Disord JT - Eating and weight disorders : EWD JID - 9707113 RN - 0 (Blood Glucose) RN - 0 (Cholesterol, HDL) RN - 0 (Insulin) RN - 0 (Triglycerides) RN - 9007-41-4 (C-Reactive Protein) RN - 97C5T2UQ7J (Cholesterol) SB - IM CIN - Eat Weight Disord. 2016 Jun;21(2):313-4. PMID: 26392290 MH - Adult MH - Aged MH - Aged, 80 and over MH - Anthropometry MH - Blood Glucose/metabolism MH - *Body Composition MH - *Body Fat Distribution MH - C-Reactive Protein/metabolism MH - Cholesterol/metabolism MH - Cholesterol, HDL/metabolism MH - Cohort Studies MH - Electric Impedance MH - Female MH - Humans MH - Insulin/metabolism MH - Intra-Abdominal Fat/*diagnostic imaging MH - Male MH - Middle Aged MH - Non-alcoholic Fatty Liver Disease/diagnosis/*diagnostic imaging/metabolism MH - Peritoneum/*diagnostic imaging MH - ROC Curve MH - Sagittal Abdominal Diameter MH - Triglycerides/metabolism MH - Ultrasonography MH - *Waist Circumference MH - Young Adult EDAT- 2014/08/19 06:00 MHDA- 2016/02/05 06:00 CRDT- 2014/08/18 06:00 PHST- 2014/02/10 00:00 [received] PHST- 2014/08/05 00:00 [accepted] PHST- 2014/08/18 06:00 [entrez] PHST- 2014/08/19 06:00 [pubmed] PHST- 2016/02/05 06:00 [medline] AID - 10.1007/s40519-014-0146-z [doi] PST - ppublish SO - Eat Weight Disord. 2015 Jun;20(2):241-7. doi: 10.1007/s40519-014-0146-z. Epub 2014 Aug 17. PMID- 25502590 OWN - NLM STAT- MEDLINE DCOM- 20161018 LR - 20181113 IS - 1970-9366 (Electronic) IS - 1828-0447 (Linking) VI - 10 IP - 2 DP - 2015 Mar TI - The new ACC/AHA guidelines on the treatment of dyslipidemia: cons. PG - 119-22 LID - 10.1007/s11739-014-1165-5 [doi] FAU - Zambon, Alberto AU - Zambon A AD - Clinica Medica 1, Department of Medicine, DIMED, Policlinico Universitario, University of Padova, Via Giustiniani 2, 35128, Padua, Italy, alberto.zambon@unipd.it. LA - eng PT - Journal Article DEP - 20141213 PL - Italy TA - Intern Emerg Med JT - Internal and emergency medicine JID - 101263418 RN - 0 (Cholesterol, LDL) SB - IM MH - Cardiology/*standards MH - Cholesterol, LDL/adverse effects/metabolism MH - Dyslipidemias/complications/*therapy MH - *Guidelines as Topic MH - Humans EDAT- 2014/12/17 06:00 MHDA- 2016/10/19 06:00 CRDT- 2014/12/16 06:00 PHST- 2014/11/12 00:00 [received] PHST- 2014/11/14 00:00 [accepted] PHST- 2014/12/16 06:00 [entrez] PHST- 2014/12/17 06:00 [pubmed] PHST- 2016/10/19 06:00 [medline] AID - 10.1007/s11739-014-1165-5 [doi] PST - ppublish SO - Intern Emerg Med. 2015 Mar;10(2):119-22. doi: 10.1007/s11739-014-1165-5. Epub 2014 Dec 13. PMID- 25791530 OWN - NLM STAT- MEDLINE DCOM- 20160210 LR - 20150430 IS - 1421-9786 (Electronic) IS - 1015-9770 (Linking) VI - 39 IP - 3-4 DP - 2015 TI - Defining minor symptoms in acute ischemic stroke. PG - 209-15 LID - 10.1159/000375151 [doi] AB - BACKGROUND: Thrombolysis is often withheld from acute ischemic stroke patients presenting with mild symptoms; however, up to 40% of these patients end up with a poor outcome when left untreated. Since there is lack of consensus on the definition of minor symptoms, we aimed at addressing this issue by looking for features that would better predict functional outcomes at 3 months. METHODS: Among all acute ischemic stroke patients admitted to our Stroke Unit (n = 1,229), we selected a cohort of patients who arrived within 24 hours from symptoms onset, with baseline NIHSS /= 2. Independent predictors of poor outcome were age (OR 0.97 [95% CI 0.95-9.99]) and baseline NIHSS score (OR 0.79 [95% CI 0.67-0.94]), while cardioembolic aetiology was negatively associated (OR 3.29 [95% CI 1.51-7.14]). Items of NIHSS associated with poor outcome were impairment of right motor arm (OR 0.49 [95% CI 0.27-0.91]) or the involvement of any of the motor items (OR 0.69 [95% CI 0.48-0.99]). The definition of minor stroke as NIHSS T polymorphism of the hepatic lipase gene promoter and unstable carotid plaque in patients with severe carotid artery stenosis. PG - 1059-66 AB - OBJECTIVE: We investigated the potential association between -514 C-->T polymorphism in the promoter of the hepatic lipase gene (LIPC) and the prevalence of inflammatory cells in the plaque of patients with severe carotid artery stenosis. BACKGROUND: This common LIPC polymorphism has been related to the presence of an atherogenic lipoprotein pattern. METHODS: We studied 68 consecutive patients undergoing carotid endarterectomy. The LIPC genotype was determined by polymerase chain reaction. Endarterectomy specimens were examined by immunocytochemistry using monoclonal antibodies for smooth muscle cells, macrophages, or lymphocytes. RESULTS: In 50 of 68 patients who had evidence of previous ipsilateral ischemic events, 36 (72%) were carriers of the CC genotype, whereas only 14 (28%) were carriers of the CT/TT genotype (p = 0.002). Among the 18 patients without evidence of events, the two genotypes were equally distributed (9 vs. 9). The low-density lipoprotein (LDL) particles were denser in CC than in CT/TT genotype carriers (flotation rate: 0.315 +/- 0.025 vs. 0.356 +/- 0.019, p < 0.0005). The CC genotype was associated with an abundance of macrophages (6.7 +/- 3.5 vs. 2.1 +/- 2.1 cells/area unit in the CT/TT group, p < 0.0005) and a reduced number of smooth muscle cells (6.9 +/- 6.2 vs. 14.5 +/- 6.4 in the CT/TT group, p < 0.0005) in the plaque. An inverse relationship was found between LDL buoyancy and the number of macrophages in the plaque (r = -0.639, p < 0.0005). CONCLUSION: We provide evidence, for the first time, that LIPC promoter -514 C-->T polymorphism, by modulating LDL density, significantly affects the number of macrophages in the plaque and possibly affects the occurrence of cerebrovascular events in patients with carotid artery stenosis. FAU - Faggin, Elisabetta AU - Faggin E AD - Dipartimento di Medicina Clinica e Sperimentale, Universita di, Padova, Italy. FAU - Zambon, Alberto AU - Zambon A FAU - Puato, Massimo AU - Puato M FAU - Deeb, Samir S AU - Deeb SS FAU - Bertocco, Sandra AU - Bertocco S FAU - Sartore, Saverio AU - Sartore S FAU - Crepaldi, Gaetano AU - Crepaldi G FAU - Pessina, Achille C AU - Pessina AC FAU - Pauletto, Paolo AU - Pauletto P LA - eng GR - HL64322/HL/NHLBI NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - J Am Coll Cardiol JT - Journal of the American College of Cardiology JID - 8301365 RN - 42HK56048U (Tyrosine) RN - 8J337D1HZY (Cytosine) RN - EC 3.1.1.3 (Lipase) SB - AIM SB - IM MH - Aged MH - Carotid Arteries/enzymology/pathology/surgery MH - Carotid Stenosis/*enzymology/*genetics/pathology MH - Cytosine/*physiology MH - Female MH - Follow-Up Studies MH - Genotype MH - Humans MH - Lipase/*genetics MH - Liver/*enzymology/pathology MH - Male MH - Middle Aged MH - Polymorphism, Genetic/*genetics MH - Promoter Regions, Genetic/*genetics MH - Severity of Illness Index MH - Tyrosine/*genetics EDAT- 2002/10/02 04:00 MHDA- 2002/10/17 04:00 CRDT- 2002/10/02 04:00 PHST- 2002/10/02 04:00 [pubmed] PHST- 2002/10/17 04:00 [medline] PHST- 2002/10/02 04:00 [entrez] AID - S0735109702021162 [pii] PST - ppublish SO - J Am Coll Cardiol. 2002 Sep 18;40(6):1059-66.