RARE DISEASES  PREVENTION, DIAGNOSIS, TREATMENT

Second Day
(2 March 2008)

09:00-11:30 Meeting of the National Alliance of People with Rare Diseases - Bulgaria
Venue - Hall B, Novotel-Plovdiv
09:00-10:20 SCIENTIFIC SESSION 2
Moderated by Prof. R. Tincheva, Dr. Sonja van Weely, Prof. R. Hristova, Prof. I. Ivanov
9:00-9:10 Unique PABPN1 gene mutation in a large Bulgarian family with OPMD
Petrova I, Mihaylova V, Muller T, Cherninkova S, Walter MC, Deschauer M, Tournev I
9:10-9:20 Conradi-Hunermann syndrome
Jelyazkov A, Grozdev I, Tsankov N
9:20-9:30 POEMS syndrome - a rare variant of plasma cell discrasia. A case report and review of literature.
Goranova -Marinova V, Goranov St, Chernev K
9:30-9:40 Transient anterior opercular syndrome in a child with benign epilepsy with centrotemporal spikes complicated with continuous spike-waves during sleep
Dimova P, Bojinova V
9:40-9:50 Osteonecrosis of the jaw in patients on biphosphonate treatment. Presentation of the first registered case in the country
Goranova-Marinova V, Pechalova P, Goranov S
9:50-10:00 Aplasia Cutis Congenita : A Rare Congenital Disease
Stefanova P, Velev G, Yonkov A, Moshekov E, Mitkovski D, Tashev P, Tashev V
10:00-10:10 Coincidance of gastrooesophageal reflux disease and neuromotor developmental retardation - case report
Canan Mutlu, lknur Metin, Adnan Gorgulu
10:10-10:20 Congenital bicuspid aortic valve accompanied by aortic root aneurysm - is a valve-sparing treatment reasonable?
Nicinska B
10:20-10:30 Focal dermala hypoplasia syndrome
Grozdev I, Jelyazkov A, Popova L, Tsankov N
10:30-10:40 Transient pathological laughter in the course of brainstem encephalitis and cerebellitis in two children
Dimova P, Bojinova V, Tomov V, Milanov I
10:40-10:50 Fibromatosis in 14 years old girl - case report
Tashev V, Tashev P, Yonkov A, Stefanova P
10:50-11:00 Neonatal Diabetis mellitis in dizygotic twin - rare disorder with difficult tretment
Kaleva N, Shismanova S, Panova M, Ivanov I
11:00-11:10 Congenital Cystic Adenomatoid Malformation of the Lungs
Yonkov H, Stefanova P, Manolov
11:10-11:20 GEFS+: A novel SCN1A mutation in two affected siblings with different clinical picture
Dimova P, Yordanova I, Bojinova V, Jordanova A
11:20-12:00 Coffee break and poster session
12:00-13:20 SCIENTIFIC SESSION 3
Moderated by Dr. Domenica Taruscio, Dr. Steven Groft, Prof. M. Murdjeva, Prof. R. Stefanov
12:00-12:10 Characteristics of the autosomal-dominant retinitis pigmentosa in a Bulgarian Roma family with a newly discovered mutation in the PRPF31 gene
Cherninkova S, Chakarova C, Tournev Iv, Waseem N, Veraitch B, Gill B, Nakova An, Kuneva R, Jordanova A, Colclough T, Oscar A, Mihajlova V, Wright A, Black G, Ramsden S, Bhattacharya S
12:10-12:20 Phenotypic spectrum of DiGeorge syndrome
Sukarova-Angelovska E, Kocova M, Peova S, Piperkova K, Kacarska R
12:20-12:30 The Therapeutic Potential of Nutraceuticals in Rare Diseases - Are They "Orphans Drugs"
Goepp J
12:30-12:40 Update on the Diagnosis and Care of Neuromuscular Disorders in Bulgaria
Guergueltcheva V, Tournev
12:40-12:50 Prevention and Menagment Programs for Talassaemia Practical and Ethical Issues
Rangelova M
12:50-13:00 Renal involvement in Essential cryoglobulinemia (mixed and monoclonal type)
Grcevska L, Milovanceva-Popovska M, Ristovska V, Polenakovic M
13:00-13:10 Creating and implementing a National Registry for Rare Diseases in Romania
Tarniceru A, Puiu M, Tutunariu R, Serban M
13:10-13:20 Epidermolysis bullosa hereditaria - epidemiology, diagnosis, complications, prognosis and medical management"
Yordanova I
13:20 CLOSING OF THE CONFERENCE AND FINAL REMARKS

 

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