Second Day
(09 September 2006)

Venue: Hall “Bulgaria”, Congress Centre of the International Plovdiv Fair (Pavilion 8, fl. 2.)


09:00-10:40	PANEL SESSION

09:00-09:20	Rare diseases in cardiology Prof. Julia Djorgova (Bulgaria)
09:20-09:40	The group of rare diseases within orthopaedy and traumatology Prof. Petar Tivchev, DMSc (Bulgaria)
9:40-10:00	Rare ophthalmology diseases, syndromes and symptoms Prof. Ruska Hristova, PhD (Bulgaria)
10:00-10:40	Novartis Oncology Bulgaria - Satellite Symposium "Evolution of the targeted therapy in oncology"
10:00-10:20	Evolving concepts in the management of Chronic Myeloid Leukemia Prof. Stefan Goranov (Bulgaria) – sponsored session
10:20-10:40	GastroIntestinal Stromal Tumors in the Glivec /imatinib/ era Prof. Asen Dudov (Bulgaria) – sponsored session

10:40-11:00	COFFEE BREAK

11:00-13:30	SCIENTIFIC SESSION 1 - ORAL PRESENTATIONS Moderated by Prof. Agripina Lungeanu (Romania), Dr. Radka Tincheva (Bulgaria), Prof. Ludmila Livshits (Ukraine) and Prof. Mirando Mrsic (Croatia)

11:00-11:10	Rare atypical variants of Guillain-Barre syndrome Milanov I , Atanasova D (Bulgaria)
11:10-11:20	Congenital Cataracts Facial Dysmorhysm Neuropathy (CCFDN) Syndrome – Clinical, Neuropathological and Genetic Investigations Ivailo Tournev, Raymonda Varon, Velina Guergueltcheva, Veneta Bojinova, Dora Angelicheva, Bryan Youl, Rosalind King, Rebecca Gooding, Margarita Raycheva, Ivan Litvinenko, Zdravko Kamenov, P.K. Thomas and Luba Kalaydjieva (Bulgaria, Germany, Australia, UK)
11:20-11:30	European integrated project on Spinocerebellar ataxias (EUROSCA) Wioletta Krysa, Holm Graessner, Olaf Riess, Jacek Zaremba (Poland, Germany)
11:30-11:40	Neural tube defects among infants delivered of mothers with tobacco smoke exposure Abdul -Kareem A. Mahmood (Iraq)
11:40-11:50	A rare case of Neurofibromatosis type 1 B. Parachkevova, Ch. Balabanov, D. Gospodinov, I.Yordanova, V. Dimitrova (Bulgaria)
11:50-12:00	From case reports to graded work-up of congenital metabolic diseases in infancy I. Ivanov (Bulgaria)
12:00-12:10	Morbus Fabry-Anderson: Why we are too late? Mrsic M, Jeren-Strujic B, Fumic K, Kudumija B, Ditz S, Kes P, Matijevic V, Saftic V, (Croatia)
12:10-12:20	Wilson’s disease – clinical findings & diagnosis in children & adolescents Georgieva M., D.Konstantinova, V.Tzaneva, A.Atanassova, A. Savov (Bulgaria)
12:20-12:30	Fabry disease E Simeonov, I. Bradinova, I. Kalev (Bulgaria)
12:30-12:40	Pediatric Hinman syndrome Aamir Al Mosawi (Iraq)
12:40-12:50	Mucopolysaccharidosis III (Sanfilippo Disease) I. Sinigerska, I. Kremenski, E.Simeonov (Bulgaria)
12:50-13:00	Genetics of mental retardation in childhood I. Bradinova, E. Simeonov (Bulgaria)
13:00-13:10	Visual-motor integration in Prader-Willi syndrome: A longitudinal case study Alevriadou Anastasia, Angelou, Ioanna, & Koidou, Irene (Greece)
13:10-13:20	Histiocitozis X – Langerhans Cell Histiocitozis with Diabetes Insipidus Albert Leka (Albania)
13:20-13:30	A rare case of von Hippel-Lindau Syndrome Ch. Balabanov. E. Ilieva, B. Parashkevova (Bulgaria)

13:30-14:00	LUNCH BREAK Sponsored by the organizing committee

14:00-16:30	SCIENTIFIC SESSION 2 - ORAL PRESENTATIONS Moderated by Prof. Ruska Hristova (Bulgaria), Dr. Sonja van Weely (Netherlands), Dr. Erica Daina (Italy) and Prof. Emil Simeonov (Bulgaria)

14:00-14:10	Encephalocraniocutaneous lipomatosis E.Simeonov (Bulgaria)
14:10-14:20	Acute lymphoblastic leukemia in a child with ataxia-telangiectasia Lazic Jelena, Janic Dragana, Dokmanovic Lidija, Jovanovic Nada (Serbia)
14:20-14:30	Idiopathic hyeruricosuria, hypercalciuria, and infantile renal stone disease: New association and therapeutic approach Aamir Al Mosawi (Iraq)
14:30-14:40	Congenital hyperamonaemia type II in the newborn diagnosed as a novel mutation in ornithine transcarbamylase deficiency gene Plutowska-Hoffmann K., Wlodarska D., Wróblewska J., Popowska E., Pyrkosz A., Swietlinski J., Hawrot-Kawecka A. (Poland)
14:40-14:50	Congenital defects of glycosylation E. Simeonov, I. Bradinova, P. Perenovska (Bulgaria)
14:50-15:00	Familial Mediterranean Fever As a Rare Disease Among all Population Gasparyan A.Ju., Petrosyan A.H., Nazaretyan E.Y. (Armenia)
15:00-15:10	Interrelation of Crohn’s Disease and Dysbacteriosis Vladimir Lifshitz (Russia)
15:10-15:20	2-Hydroxyisobutyric acid among children born out of assisted reproductive technologies and its relation to autism Ananth Rao (India)
15:20-15:30	Focal dermal hypoplasia (Goltz syndrome): family case report with affected mother and two stillborn daughters Nina Canki-Klain (Croatia)
15:30-15:40	Center for Information about Rare Diseases Romania Dan Dorica (Romania)
15:40-15:50	DNA-diagnosis of monogenic hereditary disorders in Ukraine Ludmila A. Livshits (Ukraine)
15:50-16:00	Therapeutic apheresis in Republic of Macedonia - five years experience (2000-2004) M.Milovanceva-Popovska, Lj.Stojkovski, L.Grcevska, S.Dzikova, V.Ristovska, L.Gogovska, M.Polenakovic (Macedonia)
16:00-16:10	Experiences with mutation analysis epidermolysis bullosa in the Czech Republic B. Jerabkova, L. Fajkusova, L. Kozak, H. Buckova (Czech Republic)
16:10-16:20	Methylenetetrahydrofolate reductase gene polymorphisms in patients with nonalcoholic steatohepatitis (NASH) Ali Sazci, Emel Ergul, Cem Aygun, Gurler Akpinar,Omer Senturk, Sadettin Hulagu (Turkey)
16:20-16:30	Gastric outlet obstruction due to large gastric lipoma M. Bica, E. Georgescu, R. Bazaverde, S. Ramboiu, B. Cotoi, Prof. I. Georgescu MD PhD (Romania)
16:30-16:40	Ischemic heart disease, MI and atherosclerosis in patients with Familial Mediterranean fever Gasparyan A.Ju., Petrosyan A.H., Nazaretyan E.Y. (Armenia)
16:40-16:50	Clinical, genetic and epidemiological study of calpainopathy (LGMD2A) in Croatia Nina Canki-Klain (Croatia)
16:50-17:00	Association of Methylmalonic Aciduria /MMA/ with Primary Pulmonary Hypertension /PPH/ and Hemolytic-Uremic Syndrom /HUS/ D.Roussinov, P.Miteva (Bulgaria)

17:00	CLOSING OF THE CONFERENCE AND FINAL REMARKS

Second Day (09 September 2006)

Second Day
(09 September 2006)