SIMPOZION “SOLIDARI CU CEI RARI”
Miercuri 29 februarie 2012, IOMC “Prof.dr.Alfred Rusescu”, Sala Amfiteatru
12.00 – 12.10 Deschiderea oficiala a simpozionului dedicat Zilei bolilor rare
“Solidaritate pentru raritate”
IOMC Alfred Rusescu
12.10 – 12.20 Sindromul Hallermann-Streiff (caz clinic)
Cristina Moraru, Sigrid Covaci, Catalina Bardas, Nicolae Iagaru
IOMC Alfred Rusescu
12.20 – 12.30 Encefalomielopatie necrozanta subacuta – boala Leigh: caz clinic
Tanase Elena, Comanici Valentina , Ioan Gherghina, Ioan Cernatescu
IOMC Alfred Rusescu
12.30 – 12.40 Hermafroditism adevarat la un pacient expus intrauterin la antiretrovirale
Cosmina Cristea1, Vasilica Plaiasu1, Diana Ochiana1, Mariana Mardarescu2, Iuliana Gherlan3, Ioana Anca1, Rodica Neagu Draghinecioiu2
1IOMC Alfred Rusescu, 2Institutul de Boli Infectioase prof.dr.Matei Bals, 3Institutul National de Endocrinologie C.I.Parhon
12.40 – 12.50 Hemofilia A cu inhibitori de factor VIII
Diana Czika, Cornelia Dogaru, Roxana Parlog, Adela Radulescu
IOMC Alfred Rusescu
12.50 – 13.00 To be or not to be hyper IgE
Alexis Cochino, Ioan Gherghina
IOMC Alfred Rusescu
13.00 – 13.10 Manifestare particulara de tuberculoza la copil
Carmen Navrea1, Cosmina Cristea1, Nicolae Iagaru1, Neagos Micapora2
1IOMC Alfred Rusesc u, 2Institutul de pneumoftiziologie Marius Nasta – sectia pneumologie copii
13.10 – 13.20 Sindromul poliuric-polidipsic familial la sugar
Mirela Covacescu, Michaela Nanu, Vasilica Plaiasu, Lucica Ghita, Florin Brezan
IOMC Alfred Rusescu
13.20 – 13.30 Cauza rara de convulsii neonatale
Raluca Popescu1, Paula Avram1, Rodica Cretu1, Florin Brezan1, Vasilica Plaiasu1, Maria Bulacu1, Mihaela Tohanean1, Luminita Stroescu1, Laszlo Szonyi2
1IOMC Alfred Rusescu, 2Semmelweis University,I.st.Department of Pediatrics, Budapesta
13.30 – 13.40 Abordarea in urgenta a pacientilor cu suspiciune de boala innascuta de metabolism
Paula Avram1, Romana Vulturar2, Gabriella Horvath3
1IOMC Alfred Rusescu, 2Disciplina de Biologie Celulara si Moleculara, Departamentul de Stiinte Moleculare, U.M.F. „I.Hatieganu” din Cluj-Napoca, 3Biochemical Diseases Clinic, BC Children’s Hospital, Vancouver, Canada
13.40 – 13.50 Sindrom Edwards – prezentare de caz
Emanuel Condria, Rodica Cretu, Florin Brezan, Vasilica Plaiasu, Diana Ochiana, Gabriela Motei, Raluca Popescu, Maria Bulacu, Ligia Mindrut, Alina Coca, Ioana Anca
IOMC Alfred Rusescu
13.50 – 14.00 Registrul national de boli rare fenilcetonurie – hipotiroidism congenital
Michaela Nanu, Denisa Leu, Daniela Iorgulescu, Florentina Moldovanu, Vasile Despan, Valentina Donici, Ioana Ochiana, Alexandra Cismasu
IOMC Alfred Rusescu
– – – – – – – – – – – – – – – – – – – – – – – – – – – – Pauza 14:00 – 14.30- – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – –
14.30 – 14.40 Analize “uzuale” pentru boli rare
Vasilica Plaiasu
IOMC Alfred Rusescu
14.40 – 14.50 Mutatie noua, posibil cauza rara de surditate congenitala nonsindromica
Florina M. Nedelea, Florin Popescu, Alexandra Crisan, Lorena Turculet, Gheorghe Peltecu
Spitalul Filantropia Bucuresti
14.50 – 15.00 Utilizarea testelor genetice in bolile rare – studiu de caz
C.B. Iancu, D. Iancu, E Neagu, V. Plaiasu, C. Ailenei, L. Barbarii
INML Mina Minovici Bucuresti
15.00 – 15.10 Dificultati de diagnostic in sindromul Prader-Willi
Diana Ochiana, Vasilica Plaiasu, Gabriela Motei
IOMC Alfred Rusescu
15.10 – 15.20 Enterita cu Campylobacter – etiologie rara sau rar diagnosticata?
Denisa Leu, Doina Cana, Dana Cirstica, Dana Otobic, Mihaela Rusescu
IOMC Alfred Rusescu
15.20 – 15.30 Utilitatea electroforezei de hemoglobina in depistarea hemoglobinopatiilor
Corina Delia, Toma Geanina, Felicia Berghes, Madalina Vlad
IOMC Alfred Rusescu
15.30 – 15.40 Modificari hematologice in boli metabolice – gangliozidoza tip 2
Anca Ghita, Florin Brezan
IOMC Alfred Rusescu
–––––––––––––––- 15.40– 16.00 Discutii–––––––––––––––––––