robert j. shprintzen, ph.d. professor of otolaryngology professor of pediatrics velo-cardio-facial...
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Robert J. Shprintzen, Ph.D.
Professor of Otolaryngology
Professor of PediatricsVelo-Cardio-Facial Syndrome International Center
S.U.N.Y. Upstate Medical University
Syracuse, NY, USA
email: [email protected]
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Alimentazione, Aumento di Peso,
Ritardo di Crescita
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VCFSA una delle due copie del cromosoma 22 mancano 40 geni
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22q11.2 Genoma
Alla maggior parte delle persone con VCFS mancano 40 geni dal cromosoma 22. Alcuni di questi geni possono contribuire al tasso di accrescimento normale
DG
CR
6P
RO
DH
2D
GC
R5
CA
LS2
IDD
TS
K-P
TS
K-1
DG
S-I
GS
CL
CT
PC
TLD
HIR
AN
LVC
FV
CF
-AU
FD
1LC
DC
45L
TM
VC
FP
NU
TL
GP
1BΒ
TB
X-1
WD
R14
TR
XR
2C
OM
TA
RV
CF
T10
DG
CR
8H
TF
9CR
AN
BP
1K
IAA
1292
VC
F-B
VC
F-C
NO
GO
RP
RO
DH
2-p
DG
CR
6-L
US
P18
-pZ
NF
74S
RE
CII
VC
F-D
PC
QA
P
SE
RP
IND
1S
NA
P29
CR
KL
VC
F-E
LZT
RV
CF
-FV
CF
-GP
2RX
L1S
LC7A
4R RRR
R LCRs (4)Pseudogeni (8)Geni (40)
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La maggior parte dei bambini con VCFS sono piccoli se confrontati con le tabelle standard
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È corretto utilizzare le tabelle standard sia per i bambini con SVCF che per quelli che non hanno SVCF?
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La ricerca indica che le persone con VCFS hanno massa muscolare ridotta. Ci sono meno fibre muscolari e le cellule sono più piccole.
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Il tessuto del muscolo è pesante e compone un'alta percentuale del peso corporeo.
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Il peso confrontato all’ altezza è differente in VCFS che nella popolazione normale
Bambino di VCFS concitardo di crescita (norme di CDC)
subcutaneous fat
subcutaneous fat
concitardo di crescita
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Ci sono curve specifiche di crescita per altre sindromi, quali la sindrome di Williams e la sindrome di Down,.
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Down syndrome
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Williams syndrome
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Velocità del Peso e di Altezza per VCFS
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MetodoDati retrospettivi di 1.212 pazienti con VCFSTutti i pazienti hanno avuti misurazioni
multiple del peso e dell’ altezzaLa presenza di anomalie del cuore è stata
consideratala presenza di difficoltà d'alimentazione,
sondini ecc, sono stati valutati come variabili
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VCFS, maschi, 0 - 36 mesi
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VCFS, maschi, 2-20 ani
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VCFS, femmine, 0 – 36 mesi
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VCFS, femmine, 2-20 ani
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+/- malformazioni del cuore
altezza
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peso
+/- malformazioni del cuore
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ConfrontiLa presenza di anomalie cardiache non è un fattore
che influenza la crescita a lungo termine tranne che
nella prima infanzia e in casi gravi di stenosi-atresia
polmonareI maschi hanno raggiunto l'altezza parentale media; le
femmine per poco non hanno raggiunto l'altezza
parentale media Nell'infanzia, il peso risulta basso se confrontato all’
altezza (tra il 10 e il 25 percentile)Durante la pubertà il peso era pro’altezzaLa velocità di crescita differisce per VCFS
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ConfrontiLa crescita della circonferenza del cranio è
indipendente da altezza e pesoI problemi di alimentazione iniziali non hanno
provocato il peso e la bassa statura nell'età adultaLa presenza di alimentazione alternativa nell’infanzia
non ha aiutato ad incrementare la velocità di crescitaIn altre parole, gli effetti della delezione sono il fattore
che principalmente influenzato la crescita
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La maggior parte delle persone con arrangiamenti cromosomici che coinvolgono più geni ha schemi di crescita anormali e la grande maggioranza di loro ha una velocità di crescita che non assomiglia alla popolazione generale. Non è appropriato paragonare persone con riarrangementi genetici o cromosomici alle tabelle di crescita basate sulla popolazione generale a fini terapeutici.
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In conclusione trattare I bambini con SVCF in modo da uniformarli alla popolazione generale, non è appropriato.
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