GENERAL Flashcards

1
Q

Mnémonique DDX

A

VINDICATE

V: vascular
I: infection
N: neoplasm
D: degenerative or drugs
I: iatrogenic or intoxication
C: congenital
A: autoimmune
T: trauma
E: endocrine/metabolic

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2
Q

Chromosome et mode de transmission :
- NF1
- NF2
- VHL
- Sclérose Tubéreuse
- Carney Complex
- Li-Fraumeni Syndrome
- Oslo-Weber-Rendu
- CADASIL

A

NF-1 : 17 ; AD
NF-2 : 22 ; AD
VHL : 3 ; AD
TS : Sporadique mais sinon AD : 9 et 16 (mTOR)
Carney Complex : PRKAR1A tumor suppressor gene on chromosome 17q22-24 5,6 or chromosome 2p16 ; AD
Li-Fraumeni Syndrome : Chromosome 17 gene TP53 ; AD
Oslo-Weber-Rendu : 9 (Endoglin) ; AD
CADASIL : Mutation NOTCH3 chromosome 19

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3
Q

Télangiectasie Hémorragique Héréditaire (HHT - aka Sx d’Oslo-Weber-Rendu) , quelle est l’atteinte génétique

A

Autosomal Dominant ; Chromosome 9 - gène appelé Endoglin

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