Előadás, Sarasota

Előadás, Sarasota

Kardiovaszkulris ikervizsglatok Dr. Trnoki dm Domonkos Dr. Trnoki Dvid Lszl Semmelweis Egyetem, Budapest Radiolgiai s Onkoterpis Klinika SE Barti Kr, 2012. szeptember 26. Fenotpusok eredete Csak gnek (100%): kromoszma rendellenessgek Csak krnyezet (100%): fertzsek, tpllkozsi rtalom, balesetek Genetika S krnyezet (multifaktorilis): veleszletett rendellenessgek, diabetes, hypertonia, epilepszia, stb. SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 2 Ikervizsglatok jelentsge Egypetj (monozigta, MZ) s ktpetj (dizigta, DZ) ikrek DZ ikrek = kontroll csoport

ACE modell: A: rklds (Additive genetics) (%) C: Kzs (Common) krnyezet (%) E: Egyni (uniquE) krnyezet (%) SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 100% 3 A Nemzetkzi Ikervizsglat 2009 SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA Trnoki dm Domonkos1, Trnoki Dvid Lszl1, Maria Antonietta Stazi2, Emanuela Medda2, Rodolfo Cotichini2, Corrado Fagnani2, Lorenza Nistic2, Pierleone Lucatelli3, Emanuele Boatta3, Chiaretta Zini3, Fabrizio Fanelli3, Claudio Baracchini4, Giorgio Meneghetti4, Osztovits Jnos5, Jermendy Gyrgy5, Littvay Levente6, Mtneki Jlia7, Horvath Tams8, Karlinger Kinga1, Lannert gnes9, Molnar Andrea gnes10,

Giuseppe Schillaci11, Zsolt Garami12, Viktor Berczi1 1 Radiolgiai s Onkoterpis Klinika, Semmelweis Egyetem, Budapest 2 Genetic Epidemiology Unit, National Centre of Epidemiology, Istituto Superiore di Sanit, Rome, Italy 3 Vascular and Interventional Radiology Unit, Department of Radiological Sciences, La Sapienza University of Rome, Rome, Italy 4 Department of Neurosciences, School of Medicine, University of Padua, Padua, Italy 5 Bajcsy Zsilinszky Hospital, III. Department of Internal Medicine, Semmelweis University, Budapest, Hungary 6 Central European University, Budapest, Hungary 7 Department of Hungarian Congenital Abnormalities Registry and Surveillance, National Centre for Healthcare Audit and Inspection, Budapest, Hungary 8 Institute of Human Phisiology and Clinical Experimental Research, Semmelweis University, Budapest, Hungary 9 Semmelweis University, Faculty of Pharmacy 10 Research Group for Inflammation Biology and Immunogenomics of Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary 11 Unit of Internal Medicine, Angiology and Arteriosclerosis Disease, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy 12 The Methodist Hospital DeBakey Heart and Vascular Center, Houston, TX, USA 4 OLASZORSZG USA MAGYARORSZG 5 BEVEZETS Gnek?

RIZIKFAKTOROK Magas (centrlis) vrnyoms, Fokozott rrugalmatlansg, Hypertonia, Diabetes, Hypercholesterinaemia, Dohnyzs, Elhzs, CLSZERVEK Metabolikus szindrma Bal kamra hipertrfia, Carotis falvastagsg, Carotis plakk KVETKEZMNY Szvinfarktus, Stroke, Perifris rbetegsg Stephane Laurent et al: Expert consensus document on arterial stiffness: methodological issues and clinical applications. European Heart Journal (2006) 27, 25882605 SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 6 ARTERIS STIFFNESS MRS (OSZCILLOMETRIKUS MDSZER)

SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 7 Az rrugalmassg (artris stiffness) s a centrlis/perifris vrnyomskomponensek rkldse korra, nemre s orszgra korriglt rtkek A C E Model fit (p) Perifris SBP, Hgmm 50.9 (30.2-63.9) 0.0 (0.0-47.8) 49.1 (37.1-60.3) 0.9775 Perifris DBP, Hgmm

63.9 (46.5-74.4) 0.0 (0.0-46.4) 36.1 (27.0-44.7) 0.8061 Centrlis SBP, Hgmm 60.0 (44.8-69.6) 0.0 (0.0-0.0) 40.0 (30.5-50.1) 0.5928 Perifris PP, Hgmm 30.0 (0.0-53.4) 13.8 (0.0-45.7) 56.2 (43.3-68.7) 0.5318

Centrlis PP, Hgmm 46.7 (12.4-61.4) 1.2 (0.0-46.2) 52.1 (39.9-66.0) 0.6062 Perifris AIx, % 46.8 (1.1-73.8) 20.5 (0.0-62.2) 32.7 (23.9-42.2) 0.3986 Centrlis AIx, % 48.7 (1.7-74.0) 19.2 (0.00-63.8) 32.1 (23.5-41.1)

0.3255 Aortikus PWV, m/s 50.1 (26.0-66.8) 0.0 (0.0-0.0) 49.9 (33.3-71.8) 0.0020 SBP: systols vrnyoms DBP: diasztols vrnyoms PP: pulzusnyoms AIx: Augmentcis index PWV: pulzushullm terjedsi sebessg Semmelweis University, Department of Radiology and Oncotherapy; Budapest, Hungary International Twin Study Konklzi J hr: A krnyezeti faktorok tbbsge egyni szoksokat jelent (pl. letmd: helytelen tpllkozs, fizikai aktivits hinya) s gy megelzhet

Magas rizikj betegeknl: szrs elnye 9 Semmelweis University, Department of Radiology and Oncotherapy; Budapest, Hungary International Twin Study CAROTIS INTIMA MEDIA VASTAGSG (IMT) Sources: www.heartsound.co.uk/hintroductorytalk.htm, www.tpainfo.ch/tpaimage1.gif SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 11 Amikor a nagytbl csak egy van egy ikerprnak 12 12 13 A CAROTIS PLAKKOK GENETIKAI HTTERNEK VIZSGLATA

Plakk jelenlte (van/nincs) Plakk oldalisga (nincs/egyoldali/ktoldali) Plakkok szma Plakkok sszmrete (mm2; 50 percentilis felett/alatt) Plakkok echogenitsa echomentes/echoszegny echods/meszes vegyes 14 letkor, nem, orszg, testsly-testmagassg index s dohnyzs korriglt iker korrelcik, s legjobban illeszked univarins ACEmodell eredmnyei Iker korrelcik Carotis plakk jelenlte Plakk echogenits Plakk nagysg Plakk oldalisg Plakkok szma Plakk jelenlte a carotis

bulbusban Plakk jelenlte az art. carotis internban rMZ rDZ A C E 0.787 0.147 77.4 0.0 22.6 (0.561, 0.936) (-1.000, 1.000)

(51.6, 90.4) (0.0, 0.0) (9.5, 47.5) 0.717 0.111 69.9 0.0 30.1 (0.506, 0.847) (-0.685, 0.764) (16.1, 86.4) (0.0, 3.2) (15.6, 49.8) 0.693

0.351 68.3 1.1 30.7 (0.476, 0.841) (-0.542, 1.000) (20.2, 86.7) (0.0, 81.6) (15.2, 51.8) 0.709 0.374 67.0 3.8 29.1

(0.495, 0.844) (-0.321, 0.996) (0.0, 87.0) (0.0, 76.6) (15.2, 48.1) 0.723 0.269 71.3 0.0 28.7 (0.521, 0.838) (-0.481, 0.759) (30.3, 84.5) (0.0, 14.3)

(16.4, 46.6) 0.708 -0.259 67.5 0.0 32.5 (0.459, 0.877) (-1.000, 0.281) (40.4, 84.0) (0.0, 0.0) (16.1, 56.8) 0.667 0.228 66.0

0.0 34.0 (0.337, 0.841) (-0.998, 1.000) (32.3, 90.2) (0.0, 0.0) (13.7, 57.9) SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT Variancia komponensek In press: Stroke 15 SSZEGZS A carotis plakkok jelenlte oldalisga

szma sszmrete echogenitsa mind magasan rkletes SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 16 brk: hrmviejo.blogspot.com, shelleyellisphotography.com, immortalhumans.com SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 17 KONKLZI Rosszabb hr: A megelzs (krnyezeti faktorok, pl. dohnyzs, tkezs, fizikai aktivits) csupn

mrskelt szereppel br. Magas rizikj betegeknl: az relmeszeseds korai stdiumban trtn szrse (carotis ultrahang) a szvdmnyek (pl. stroke) megelzse rdekben. 18 SSZEGZS Gnek? RIZIKFAKTOROK Magas (centrlis) vrnyoms, Fokozott rrugalmatlansg, Hypertonia, Diabetes, Hypercholesterinaemia,

Dohnyzs, Elhzs, CLSZERVEK Metabolikus szindrma Bal kamra hipertrfia, Carotis falvastagsg, Carotis plakk KVETKEZMNY Szvinfarktus, Stroke, Perifris rbetegsg SEMMELWEIS EGYETEM RADIOLGIAI S ONKOTERPIS KLINIKA NEMZETKZI IKERVIZSGLAT 19 Ksznetnyilvnts Emil MONOS, MD, PhD, DSc Janos OSZTOVITS, MD, PhD Claudio BARACCHINI, MD, PhD Gyorgy JERMENDY, MD, PhD, DSc Pierleone LUCATELLI, MD Istvn PREDA, MD, PhD, DSc

Emanuele BOATTA, MD Rbert Gbor KISS, MD, PhD Chiara ZINI, MD Julia METNEKI, PhD Fabrizio FANELLI, MD, PhD, DSc Tamas HORVATH, MD Andrea Agnes MOLNAR, MD, PhD Giacomo PUCCI, MD Giorgio MENEGHETTI, MD, PhD, DSc Pal BATA, MD Maria Antonietta STAZI, MSc Emanuela MEDDA, BSc Rodolfo COTICHINI, BSc Lorenza NISTIC, MD, PhD Corrado FAGNANI, BSc Kinga KARLINGER, MD, PhD

Levente LITTVAY, PhD Viktor BERCZI, MD, PhD, DSc Zsolt GARAMI, MD Giuseppe SCHILLACI, MD, PhD, DSc 20 Ksznm a figyelmet! Web: www.ikerkutatas.club.hu Email: [email protected]

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