Monday 21.06.2010 (1/10)

Roma
Università Cattolica del Sacro Cuore

Aula Moscati, Istituti Biologici

Coordinator: Prof. Romano Tenconi - University of Padova

COMMENTI ALL'INCONTRO DEL PROF. TENCONI

LETTERA DEL PROF. TENCONI AL GRUPPO DI GENETICA CLINICA

...Allegri saluti...

 PROGRAM

 10.45

- Communications  (R. Tenconi, Padova)

11.10

- Seminars

- Long-term therapy with recombinant insulin-like growth factor in a child with IGF-1 gene mutation (P. Strisciuglio & D. Concolino, Napoli) (20m’ + 5 m’ discussion) file .pps

-  Employment of autologous erythrocytes for drug administration in patients with genetic diseases  (M. Magnani, Dip. Scienze Biomolecolari, Urbino) (30m’ + 10 m’ discussion) file .pps

- Psychiatric aspects and social-assistance needs in young adults with complex malformative  syndromes (F. Bedeschi e E. Colombo, MI) (30m’ + 15m’ discussion) file .pps

13.00

- Educational

 Gestaltic test of malformative syndromes (M. Priolo, RC) 20m’

13.20

 - Lunch break

13.50

  Projects: new and in progress

-Glossary of morphological terms: atresic or absent auditory meatus, absent or hypoplastic tragus, cleft lobule (O. Calabrese, IM) (10') file .pps

-Good use of morphologic terms to arrive at diagnosis (Ein unförmig Spass) (R. Tenconi, PD) (5')

-Comments on "Challenges in the clinical application of whole-genome sequencing" (Lancet 2010; 375:1749) and an interesting collaborative proposal (A. Renieri, SI) (15+5' discussion)

14:25

-An instructive case (10'+20' discussion):
"Looks can be deceiving": a simple diagnostic double deception (M. Zollino, RM) file .pps

14.55

Follow-up of previously presented cases:
 

Presented by	Diagnostic suspicion	Discussant
L. Garavelli (Reggio Emilia)	CFC/Costello s. ?presented on April 12, 2010	G. Neri (Roma)
D. Greco (C. Romano, Troina)/ M. Priolo (RC)	Treacher-Collins s.? presented on September 21, 2009 and two cases of OAV	E. Tarantino

 Presentation and discussion of new cases:
 

17:00

End of meeting