Vrijeme:

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Simpozij s medunarodnim sudjelovanjem
Symposium with international participation
GENETIKA U PEDIJATRIJSKOJ KARDIOLOGIJI I
REUMATOLOGIJI GENETICS IN PEDIATRIC CARDIOLOGY
AND RHEUMATOLOGY
Time Petak/ Friday 1500 - 1900 Subota/ Saturday
900- 1800
Vrijeme 22. 23.03.2013.
Venue Croatian Medical Association, Zagreb,
Šubiceva 9
Mjesto Hrvatski lijecnicki dom, HLZ, Zagreb,
Šubiceva 9
Organizator Hrvatsko društvo za pedijatrijsku
kardiologiju i reumatologiju, HLZ-a Hrvatsko
društvo za humanu genetiku HLZ-a
Organiser Croatian Association for Pediatric
Cardiology and Rheumatology, Croatian Society for
Human Genetic, Croatian Medical Association
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Introduction
Uvod
Genetika je svakodnevno prisutna u poslu
pedijatrijskih kardiologa i reumatologa i sve smo
svjesniji te cinjenice. Zahvaljujuci novim
spoznajama promijenio se i nacin razmišljanja o
srcanim i reumatskim bolestima u djece. Genetika
je sve prisutnija kada promišljamo o uzrocima,
mehanizmima nasljedivanja kao i mogucnostima
lijecenja pojedinih bolesti. Sve je veci broj
prikaza slucajeva, rasprava i znanstvenih radova
u kojima se etiopatogeneza bolesti dovodi u vezu
s genetikom. Uz ranije korištene metode za
otkrivanje aneuploidija i delecijskih sindroma
danas se sve više koriste novije dijagnosticke
metode koje omogucuju otkrivanje manjih promjena
(mikrodelecije, mutacije, translokacije,
amplifikacije).Kada se zapitamo što smo u svojoj
državi napravili na ovom planu, cini se da je
odgovor prilicno razocaravajuci. Iako je kod nas
do sada publicirano nekoliko clanaka iz
epidemiologije prirodenih srcanih grješaka (koja
je esencijalno vezana uz genetsku osnovu) kao i
pojedinacni prikazi pojedinih delecija i mutacija
te nekoliko znanstvenih radova iz podrucja
pedijatrijske reumatologije, nije bilo
sistematskog razmatranja genetike u okviru našeg
Društva. Svrha ovog simpozija jest sabrati
dosadašnja saznanja o genetici u pedijatrijskoj
kardiologiji i reumatologiji kao i upoznati se s
novim suvremenim mogucnostima implementacije
genetike u naš klinicki i znanstveni rad. Stoga
smo ujedinili snage našeg društva s aktivnim
clanovim društva za humanu genetiku HLZ i dobili
podršku nekih istaknutih inozemnih predavaca.
Uvjereni smo da na taj nacin možemo obogatiti
naše znanje na ovoj razini i još se jednom
družiti u ugodnoj radnoj atmosferi. We are
becoming increasingly aware of the everyday
presence of genetics in the work of pediatric
cardiologists and rheumatologists. New
realizations have also changed the way of
thinking about cardiac and rheumatic diseases in
children. Genetics is increasingly present in
reflecting upon the causes, inheritance
mechanisms, but also treatment possibilities for
particular diseases. Number of case reports,
discussions and articles relating
etiopathogenesis of diseases with genetics is
also constantly increasing. Previously used
methods for deletions and aneuploidies detection
are supplied by new diagnostic methods which
enable detection of smaller chromosomal changes
(microdeletions, mutations, translocations,
amplifications). If one asked himself what we
have done in this field in our country, I believe
the answer would be quite disappointing. Although
we have published several articles related to the
epidemiology of congenital heart diseases
(essentially relying on the genetic basis), case
reports on deletions and mutations, as well as
several scientific articles from the field of
paediatric rheumatology, genetics has not yet
been systematically approached within our
Society. The purpose of this symposium is to
summarize the existing knowledge of genetics in
paediatric cardiology and rheumatology as well as
to introduce new modern possibilities of
implementing genetics in our clinical and
scientific work. In an effort to achieve these
goals, our Society has combined forces with
active members of Croatian Society of Human
Genetics of the Croatian Medical Association and
has also received backing from several
distinguished foreign lecturers. We are confident
that the pleasant working atmosphere of the
symposium will lead to enhancing our knowledge to
a new level. Prof dr sci Ivan Malcic

Prof dr sci Ingeborg Barišic
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Petak, 22.03.2013
Friday, 22.03.2013
1500 Opening ceremony
Ivan Malcic, President of Croatian Association for Pediatric Cardiology and Rheumatology Ingeborg Barišic, President of Croatian Society for Human Genetic
PROGRESS IN GENETIC AND DEVELOPMENTAL BIOLOGY OF CONGENITAL HEART DISEASES Voditelj/ Chairman Ingeborg Barišic, Ivan Malcic PROGRESS IN GENETIC AND DEVELOPMENTAL BIOLOGY OF CONGENITAL HEART DISEASES Voditelj/ Chairman Ingeborg Barišic, Ivan Malcic
1510- 1540 Classification of congenital heart diseases toward etiopathogenetic mechanisms and importance of epidemiology in genetic consideration Ivan Malcic
1540- 1610 Genetic diagnostics and counselling in pediatric cardiology and cardiovascular researches Heide Seidl
1610- 1640 MLPA (Multiplex Ligation- dependent Probe Amplification) in diagnostics of congenital heart defects Ingeborg Barišic
1640- 1700 Three basic levels of genetic disorders in pediatric cardiology Sanda Huljev Frkovic
1700- 1730 Break
FUNDAMENTALS OF GENETICS IN PEDIATRIC RHEUMATOLOGY Voditelj/ Chairman Marija Jelušic, Ivan Krešimir Lukic FUNDAMENTALS OF GENETICS IN PEDIATRIC RHEUMATOLOGY Voditelj/ Chairman Marija Jelušic, Ivan Krešimir Lukic
1730- 1800 Genetics of childhood rheumatic disease an introduction Alberto Martini
1800- 1830 From gene mutation to inflammation and overview on the pathogenesis of autoinflammatory diseases Marco Gattorno
1830- 1900 High Throughput Pediatric Rheumatology Ivan Krešimir Lukic
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Subota, 23.03.2013
Saturday, 23.03. 2013
ANEUPLOIDIES, DELETIONS AND CONGENITAL HEART DISEASES Voditelj/ Chairman Heide Seidl, Ivo Baric ANEUPLOIDIES, DELETIONS AND CONGENITAL HEART DISEASES Voditelj/ Chairman Heide Seidl, Ivo Baric
900-915 Morphological and genetic differences of atrioventricular septal defect in patients with and without Down syndrome Tomica Božic
915-930 Microdeletion of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects our experiences Dorotea Bartonicek, Sanda Huljev Frkovic, Ivan Malcic et al.
930- 945 Clinical and molecular analysis of patients with Williams-Beuren syndrome Neven Cace, Aleksandar Ovuka
945-1000 Supravalvular aortic stenosis and peripheral pulmonary stenosis in family with balanced translocation T(714) and break point within the elastin gene region Daniel Dilber, Ivan Malcic et al.
1000-1015 Hypoplastic left heart syndrome- genetic aspects of disease Andrea Dasovic Buljevic
10.15-1030 Coarctation of the aorta in children with Turner syndrome Dražen Belina
1030-1045 Cardiomyopathies associated with inherited metabolic diseases Ivo Baric
10.45-11.30 Break
GENETICS IN PEDIATRIC RHEUMATOLOGY Voditelj/ Chairman Marco Gattorno, Marija Jelušic GENETICS IN PEDIATRIC RHEUMATOLOGY Voditelj/ Chairman Marco Gattorno, Marija Jelušic
1130- 1145 Osteoblastogenesis from synovial fluid-derived cells is related to the type and severity of juvenile idiopathic arthritis Elvira Lazic Mosler
1145- 12.00 Cytokine regulation of inflammation and osteoclastogenesis in arthritis Danka Grcevic
12.00-12.15 The inverse relationship of the soluble receptor for advanced glycation endproducts (sRAGE) to HMGB1 in children with systemic lupus erythematosus Marija Jelušic Dražic
12.15- 1230 HMGB-1, S100A12, and RAGE as biomarkers of juvenile idiopathic arthritis Dubravka Bobek
1230-1245 Carrier rate of MEFV gene mutations in Central European and Balkan healthy populations Nataša Toplak
1245-1300 Neonatal lupus syndrome, cardiologic or rheumatologic syndrome genetic aspects of disease, Sanja Dorner
1300-1500 Break
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Subota
Saturday
MOLECULAR GENETICS, CASE REPORTS Voditelj/ Chairman Dalibor Šaric, Kristina Crkvenac MOLECULAR GENETICS, CASE REPORTS Voditelj/ Chairman Dalibor Šaric, Kristina Crkvenac
1500- 1510 Mowat- Willson syndrome Hrvoje Kniewald
1510- 1520 Barth syndrome Marija Vidakovic
1520- 1530 Coffin Lowry syndrome Željka Mustapic
1530- 1540 Ellis van Creveld syndrome Andrea Dasovic Buljevic
1540- 1550 Noonan syndrome Gabrijela Rendulic Wolf
1550- 1600 Role of the fetal echocardiography in detection of chromosomopathies- case report of triploidy Tonkovic Ðuriševic I, Crkvenac Gornik K, Lasan R, Letica Lj, Mikloš M, Huljev Frkovic S, Elvedi Gašparovic V, Malcic I, Begovic D
1600- 1630 Break
Voditelj/ Chairman Vojko Rožmanic, Sanja Dorner Voditelj/ Chairman Vojko Rožmanic, Sanja Dorner
1630- 1640 Connective tissue diseases of cardiovascular system- case report of a patient with Loeys- Dietz syndrome Šaric Dalibor
16.40- 1650 Case report periodic fever Familiar Mediterranean Fever, PFAPA or other syndrome Bilic Cace I, Rožmanic V, Babic-Božovic I, Banac S, Cace N
1650-1700 R202Q polimorphism of MEFV gene in a family with Familiar Mediterranean Fever (FMF) Marko Barešic
1700-1710 PAPA or SAPHO syndrome in a 16 year old boy Iva Rukavina
1710-1720 Autosomal dominant spondyloarthropathy a differential diagnosis of severe polyarticular type of juvenile idiopathic arthritis Marijan Frkovic
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Predavaci
Lecturers
Ivo Baric, Klinika za pedijatriju KBC
Zagreb Marko Barešic, Klinika za unutarnje
bolesti KBC Zagreb Ingeborg Barišic, Klinika za
djecje bolesti Zagreb Dorotea Bartonicek, Klinika
za pedijatriju KBC Zagreb Dražen Belina, Klinika
za kardijalnu kirurgiju KBC Zagreb Dubravka
Bobek, Zavod za fizikalnu i rehabilitacijsku
medicinu i reumatologiju, KB Dubrava Tomica
Božic, Klinika za pedijatriju KB Mostar Iva Bilic
Cace, Klinika za pedijatriju KBC Rijeka Neven
Cace, Klinika za pedijatriju KBC Rijeka Andrea
Dasovic Buljevic, Klinika za pedijatriju KBC
Zagreb Daniel Dilber, Klinika za pedijatriju KBC
Zagreb Sanja Dorner, Klinika za pedijatriju KBC
Osijek Marco Gattorno, Pediatria II Reumatologia,
(EULAR Centre of Excellence in Rheumatology
2008-13) Gaslini Institute, Genoa, Italy Danka
Grcevic, Zavod za fiziologiju i imunologiju,
Medicinski fakultet Zagreb Marijan Frkovic,
Klinika za pedijatriju KBC Zagreb Sanda Huljev
Frkovic, Klinika za pedijatriju KBC Zagreb
Marija Jelušic Dražic, Klinika za pedijatriju
KBC Zagreb Hrvoje Kniewald, Klinika za
pedijatriju KBC Zagreb Elvira Lazic Mosler,
Laboratorij za molekularnu imunologiju,
Medicinski fakultet Zagreb Ivan Krešimir Lukic,
Partek Inc., St. Louis (MO), USA, Katedra za
istraživanja u biomedicini i zdravstvu,
Medicinski fakultet Split Ivan Malcic, Klinika
za pedijatriju KBC Zagreb Alberto Martini,
University of Genoa, Director of Pediatria II
Reumatologia (EULAR Centre of Excellence in
Rheumatology 2008-13) Gaslini Institute, Genoa,
Italy, President of the Pediatric Rheumatology
European Society (PRES), Željka Mustapic, Klinika
za pedijatriju KBC Zagreb Gabrijela Rendulic
Wolf, Klinika za pedijatriju KBC Zagreb Iva
Rukavina, Klinika za pedijatriju KBC Zagreb Heide
Seidl, Institut für Humangenetik der TU München,
Trogerstr. 32, München, Germany Dalibor Šaric,
Klinika za pedijatriju KBC Zagreb Ivana Tonkovic
Ðuraševic, Klinika za pedijatriju KBC
Zagreb Nataša Toplak, Pediatricna klinika, UKC
Ljubljana Marija Vidakovic, Klinika za
pedijatriju KBC Zagreb
Predavanja se održavaju na hrvatskom i engleskom
jeziku, a dijapozitivi su na engleskom
jeziku. Lectures will be held on Croatian and
English language, slides should be in
English. Sudjelovanje se boduje prema pravilniku
HLK Kotizacija
400 kn za sudionike

200 kn za
specijalizante za predavace

besplatno za umirovljenike
i studente   Kontakt adrese

Kotizacija se može platiti kod ulaza ili
unaprijed andrea.db.savoia_at_gmail.com
broj racuna HLZ
2360000-1101214818 , ivan.malcic1_at_gmail.com

poziv na broj 268-390 ingeborg.barisic_at_kdb.hr mari
ja.jelusic.drazic_at_gmail.com