Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MMD 1045 examen 2 > révision ultime des maladies > Flashcards

révision ultime des maladies Flashcards

1
Q

Gène tyrosinémie de type 1?

A

FAH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Description tyrosinémie type 1?

A

Insuffisance hépatique Cirrhose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Traitement tyrosinémie de type 1?

A

NTBC Diète

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Gène ARSACS?

A

SACS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Description ARSACS?

A

Ataxie des membres inférieurs Dysfonction sphincter Polyneuropathie

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Gène NSMH+-ACC?

A

KCC3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Description NSMH+-ACC?

A

2/3 ACC Hypotonie Hyporéflexie

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Gène acidose lactique (Leigh)?

A

LRPPRC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Description acidose lactique (Leigh)?

A

Retard développement Hypotonie Lactate élevée Mortalité élevée

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Transmission atrésie intestinale multiples?

A

Autosomique récessif

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Description atrésie intestinale multiples?

A

Obstruction intestinale Calcification intra-abdominale Décès d’ici 4 mois

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Gène de l’atrésie intestinale multiples?

A

TTC7A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Description Joubert?

A

Malformations SNC Apraxie occulomotrice Apnée centrale Retard de développement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Gènes Joubert?

A

TMEM231 CC2D2A C5ORF42

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Description de la neuropathie optique de Leber?

A

Perte de vision centrale Atrophie optique

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mode de transmission de Leber?

A

Mitochondrial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Gène de Leber?

A

T14484C

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Description de la neuropathie héréditaire sensitivo-motrice type 2?

A

Perte de sensibilité profonde Dysfonction du SNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Gène de la neuropathie héréditaire sensitivo-motrice type 2?

A

HSN2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Déficience dans la PCU?

A

PHA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Traitement PCU?

A

Diète personnalisé

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Problème hyperphélylalaninémie?

A

Peu de PHA → peu de phénycétones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Problème de la PCU maligne?

A

Pas de BH4 → DOPA et thyrosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Problème de la PCU maternelle?

A

PCU non traité chez maman enceinte

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Problème de la tyrosinémie de type 1?

A

Trop de succinylacétone → hépatoxique, neurotoxique et néphrotoxique

26
Q

Traitement tyrosinémie de type 1?

A

NTBC Diète

27
Q

Déficience leucinose?

28
Q

Traitement leucinose?

A

Hémodialyse Vitamine Diète

29
Q

Déficience MCAD?

30
Q

Traitement MCAD?

A

Soluté glucose Médic-alerte L carnitine

31
Q

Cause Leber (LHON)?

A

Mutation homoplasmique complexe 1 Mitochondrial

32
Q

Cause maladie de Gaucher?

A

Pas de glucocérébrosidase

33
Q

Gamme phénotypique Gaucher?

A

Asymptomatique Viscéral Neuro Hydrops

34
Q

Causes de l’homocystinurie?

A

Méthylation CBS

35
Q

Traitement Gaucher?

A

Greffe Traitement enzymatique

36
Q

Traitement Homocystinurie?

A

B12 B6 Diète

37
Q

Mutation Lynch?

A

MLH1 BRAF MASH2 MSH6 PMS2

38
Q

Transmission Lynch?

A

Autosomique dominant sans polyposes

39
Q

% cancer Lynch?

A

MSH1: 80% MSH6: 22-44%

40
Q

Cancers Lynch?

A

Colonoscopie Hystérectomie Voies urinaires Thyroide

41
Q

Mutation polypose familiale?

42
Q

Transmission Polypose familiale?

A

Autosomique dominant De novo 15%, Grande pénétrance

43
Q

Risques polypose familiale?

A

100% cancer côlon Syndrome de Gardner

44
Q

Traitement polypose familiale?

A

Colonoscopie Colectomie Endoscopie Examen thyroide

45
Q

Mutation polypose MUTYH?

46
Q

Transmission polypose MUTYH?

A

Autosomique récessif

47
Q

Caractéristiques polypose MUTYH?

A

Plus de 100 polypes

48
Q

Mutations polypose colique juvénile?

A

BMPR1 MAD4H SMAD4 PTEN (1%)

49
Q

Risques polypose colique juvénile?

A

Rectorragie Prolapsus rectal 50% cancer colon

50
Q

Décrit la forme syndromique de la polypose colique juvénile.

A

SMAD4 HTT Malformations artétioveineuse

51
Q

Mutation Peutz Jegher?

52
Q

Risques Peutz Jegher?

A

80% cancer 32% sein Invagination intestinale

53
Q

Tumeur Cowden?

54
Q

Mutations Cowden?

A

PTEN PIC3CA AKT1

55
Q

Risques Li Fraumeni?

A

Sarcomes des tissus mous Sein Leucémie Lymphomes Cérébral Gastrointestinal

56
Q

Mutation Li Fraumeni?

57
Q

Transmission et risques endocrinienne multiples?

A

Autosomique dominant 90% à 50 ans

58
Q

Mutation endocrinienne multiple type 1?

59
Q

Risques endocrinienne multiples 1?

A

Parathyroide Pancréas Glande pituitaire Zolliger Elison

60
Q

Mutation forme familiale d’endocrinienne multiple?

A

MEN2A et B

61
Q

Risques MEN2A

A

Carcinome thyroide Hyperparathyroidie Phénochromocytome

62
Q

Risques MEN2B?

A

Phénochromocytome Neurome muqueux Carcinome thyroide

MMD 1045 examen 2 (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions