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MMD1045: Module 2 > Embryo: Teratogenes > Flashcards

Embryo: Teratogenes Flashcards

1
Q

Pourquoi le lieu de naissance des neurones est-il important?

A

Contrôle leur expression de HOX et est essentiel à la formation de connexions intercellulaires ordonnés

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2
Q

Est-ce que les neurites d’un même groupe migrent ensemble? Pourquoi?

A

Oui, car elles interagissent via leurs CAMs

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3
Q

Vrai ou faux? Il y a un excès de neurites qui atteignent leur cible.

A

Vrai

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4
Q

Décrit en détails la quatrième phase.

A

Axone atteint sa cible
Sécrétion de substance trophique
Neurones qui ne reçoivent pas assez de NGF meurent
Élimination es synapses non utiles via la dépolarisation rétrograde

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5
Q

ue nécessite la fonction nerveuse?

A

Myélinisation

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6
Q

Qu’Est-ce qui se passe si délétion de Caspase9?

A

Pas d’apoptose des neurocytes
Macroencéphalie
Rachischisis
Désorganisation neuroépithélium
Compression de la cavité ventriculaire

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7
Q

Myélinisation and legal actions relation

A

Myelinisation of the frontal lobe that is associated with decision making and differentiation of bad and good is not fully myelinated until the mid-adult age. This physiological process has important implications related to legal proceedings especially for young children. For instance, a 13 year old child should not be prosecuted in the same manner as an adult would as their frontal lobe formation is not necessarily complete.

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8
Q

Caractéristiques de l’holoprosencéphalie?

A
  • Formation d’un lobe cérébral unique: il n’y a pas de séparation entre les deux lobes cérébraux.

pathologie causée par
l’absence de séparation du prosencéphale en télencéphale, et elle peut être causée par une
sous-expression de SHH.

  • Généralement associée à une fusion oculaire (cyclopie)
  • Associée à une anomalie du cholestérol perturbant la cascade SHH.
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9
Q

Explique la séparation du proencéphale et du champs oculaire.

A

Le champs oculaire du proencéphale primitif sécrète PAX6
SHH produite par la notochorde diffuse et inhibe PAX6 dans la portion médiane du champ oculaire
Formation de deux yeux
SHH stimule PAX2 qui sépare le proencéphale et forme les deux hémisphères du télencéphale

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10
Q

What could this lead to :

Smith-Lemli-Opitz causé car une anomalie du cholestérol perturbant la cascade SHH.

A

Holoprosencéphalie because SHH stimulates PAX2 which is important for the separation of the hemispheres

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11
Q

Pourquoi les reins, malgré leur grande perfusion, ne sont pas des sites de métastases communs?

A

Pas de récepteurs des cellules cancéreuses adéquats pour l’endothélium rénal

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12
Q

Qu’est-ce qu’une malformation syndromique?

A

Plusieurs malformations résultant d’une cause unique

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13
Q

What is Association VACTERL?

A

transmise de façon dominante

Defined as multiple malformations that are found in the same patient. When we talk about association it is because we do not know the cause of the disease.

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14
Q

Risk of heriting VACTERL

A

VACTERL est relativement fréquent, et généralement
considéré comrne étant sporadique, c. a d., avec un très faible risque de récidive.

Faible risque de récidive

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15
Q

Que sont les malformations?

A

Anomalies morphologiques résultant d’un développement intrinsèquement anormal

tissue that is not developed normally due to a genetic problem.

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16
Q

Que sont les disruptions?

A

Genetically all is normal but there is an external molecular factor that has interfered with normal formation. For example, a teratogen.

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17
Q

Que causent les tératogènes?

A

Only disruptions

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18
Q

Que sont des déformations?

A

Anomalies de forme ou de localisation des structures suite à des forces mécaniques anormales

Mechanical interference with normal development. For example, lack of sufficient amnionic fluid can lead to miss-folding of the embryo due to insufficient forces.

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19
Q

Exemple de déformations?

A

Syndrome des bandelettes amniotiques
Oligohydraminos

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20
Q

Define a Sequence and give an example:

A

All of the anomalies that will be presented in an individual following a primary starting anomaly.

Example: Sequence of Potter and oligohydramnios

All of the anomalies that will occur due to the lack of amniotic fluid.

Compression of the baby due to the impossibility to move its articulations.

All of the joints thus become fused together.

Because the baby needs to breathe in its amniotic fluid for proper lung development, this is often associated with pulmonary hypoplasia which leads to a very rapid death of the child post-natal.

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21
Q

Potter Syndrome vs Sequence

A

Syndrome:

This is very different as we know that this is due to the absence of kidney formation. No kidneys = no urine = no amniotic liquid.

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22
Q

True or False

’un organe formé est suceptible aux agents tératogènes

A

False

Already formed

23
Q

Vrai ou faux? La période de vulnérabilité commence très tard alors que la mère sait déjà qu’elle est enceinte.

A

Faux

24
Q

Que fait la prise d’acide folique?

A

Diminue le risque de rachischisis et d’anencéphalie

–

25
Q

What is Dysplasia and give example?

A

It is the abnormal organisation of tissues in a given tissue.

Syndrome de Meckel-Gruber:

26
Q

What is Vulnaribility Period:

A

n contrast to babies and embryos, adults can take Teratogenic agents without any effect. Similarly, a fetus that has completed development is not sensitive to teratogenic agents. This is what defines the vulnerability window: the moment when, molecularly, the tissues and cells are starting to organize and not during tissue development.

The dogma is that the 4 first gestational weeks (2 post-conceptional), a teratogen will either have no effect on the embryo or will kill the embryo. We will not see malformations.

When a certain medication is taken, the risk that the embryo is affected depends on the metabolism of the mother (fast absorption, fast metabolism) as well as the genome of the child (example having gens that protect against a given malformation).

27
Q

Que cause la thalidomine?

A

Amélie
Phocomélie

A very dangerous teratogen that causes amelia incidence (absence of limbs) or malformation of limbs.

basically no limbs

28
Q

Nomme les impacts de la prise de thalidomide

A

variable selon la période de vulnérabilité

29
Q

True or False

la thalidomide aide à gérer les nausées de grossesse

A

False,

it does nothing

30
Q

Effet de la prise d’Accutane?

A

Vitamin A -> acid retinoid -> this will ruin the HOX gene expression -> highly teratogenic

Accutane peut causer des malformations sévères au niveau du cerveau, des yeux, des oreilles, du coeur et des gros vaisseaux, des surrénales et des membres.

31
Q

Qu’est-ce que le DES?

A

Synthetic estrogen.

FDA approved medication to prevent spontaneous abortions that has literally no effect on abortions. Pharmaceutical companies got a lot of money and affected millions of women.

Women that take DES have an increased chance of developing breast cancer. Pregnant women have an increased risk of developing a cancer du col de l’uterus

Remember the story of the two doctors in the elevator that had so many cases of cancer du col D(octors)E(levator)(uteru)S

32
Q

Why is taking alcohol during pregnancy is associated with hypoplasie mid-faciale.

A

alcohol will get to the mother through the blood circulation, it will urinate the alcohol and will then re- (breathe) the alcohol. The alcohol has a important destructive effect on neural cells. (Cerebral hypoplasia)

Important concept: associated with hypoplasie mid-faciale. Why? Because the brain is responsible for the proper development of the face

33
Q

2 types of diabetes related to pregnancy

A
  1. Diabetes that was present in the mother prior to conception.L’hyperglycémie embryonnaire stimule l’apoptose et perturbe la transcription des gènes - elle est donc tératogénique.
  2. Diabetes that was developed while pregnant (diabetes gestational)This comes after embryogenesis. As such it has no teratological impact but still has major issues in fetal growth (see below with insulin and IGF).In order to have an effect on the embryo, must be present before the 8th week.
34
Q

____% des grossesses sont compliqués par un diabète.

A

5-10

35
Q

Effet de l’hyperglycémie embryonnaire Semaine 7?

A

Tératogène

effect on the embryo, must be present before the 8th week.

36
Q

Quel organe est particulièrement vulnérable à l’hyperglycémie?

A

Le coeur

37
Q

Comme quoi agissent l’insuline et le glucose?

A

Facteurs de croissance

–

38
Q

Effet de l’hyperinsulinémie chez le bébé

A

glucose passes through the placenta without any issues. The baby and the mother will have the same GLYCEMIA. However, the insulin produced by the baby DOES NOT PASS THE PLACENTA !!!!!!!!!!!!! So, the mother does not have any effect, the baby is filled with sugar.

High levels of glucose in babies lead to the release of insulin. High insulin in babies leads to release of IGF (growth factor) -> too big of a baby -> issue (example big heart)

Macrosomie: complications cérébrales et à l’accouchement
Cardiomégalie qui se résorbe: défaillance cardiaque
Hypoglycémie postnatale transitoire: fatale si non traitée

Because insulin is a Facteurs de croissance

39
Q

Vrai ou faux? Si on contrôle le volet cardiovasculaire, le bébé peut résorber sa cardiomégalie.

A

True

40
Q

Que fais-tu si tu a un bébé qui est en hyperinsulinémie?

A

Here is another issue, the baby is used to having soooo much glucose. When born, the reflex is to of course cut the umbilical cord, which will KILL THE BABY.

This is because the baby will still produce high levels of insulin -> this will quickly lower glucose levels in the baby -> no energy -> death

Need to send child in intermediary care with glucose IV so that the beta cells have time to adapt.

41
Q

What is Lupus érythémateux:

A

Auto Immune disease where the mother’s immune system get into the placenta and attack the babies cardiac system which often leads to arrhythmias or cardiac edema

42
Q

How to prevent Lupus erythemateux

A

can all be prevented if we control and stabilize the heartbeat of the baby until its body has cleared off the mother’s antibodies after birth.

43
Q

Cause de l’hyperthermie?

A

Infectieuse
Environnementale (sauna)

Fever in the mother for a long duration. Can be environmental as well like a hot sauna for long durations.

44
Q

Conséquences de l’hyperthermie?

A

n retard mental modéré à sévère avec épilepsie, à une microphthalmia, à un retard de croissance postnatale, à une hypoplasie faciale (dénotant une hypoplasie des lobes frontaux:
la croissance du cerveau stimule la croissance de la face), et à un rachischisis.

45
Q

Conséquence de la cocaine?

A

It is a very powerful vasoconstrictor

thromboses placentaires avec insufficance placentaire et retard de croissance foetale,

gastroschisis (due to the lack of oxygen in the left artery)

46
Q

Est-ce que la cigarette est un tératogène?

A

NON

It is not a teratogen (as it does not lead to malformations) but it has important effects in pregnancies.

47
Q

Risque de plus de 20 cigarettes par jour?

A

Fetus sont plus petits que ceux des non-fumeuses (RCIU: retard de croissance intra-utérine).

this is due to the reduced oxygen in the baby’s blood.

L’effet oncogénique chez le fetus n’a pas été exploré, mais il est probable que la cigarette augmente le risque de cancer chez les adultes dont les mères fumaient pendant la grossesse.

48
Q

Est-ce que la marijuana est tératogène?

A

no

49
Q

Nomme les infections de TORCHS.

A

Group of infections:

Toxoplasmose, Rubéole, CMV, Herpès et Syphilis, Zika

50
Q

Impact de TORCHS chez le bébé?

A

Le bébé n’a pas de système immunitaire et considère l’infection comme faisant partie de lui. L’infection perdure à la naissance et évolue

The issue with these infections is that they occur at a time where the fetus has not yet decided between self and other immune system

This means that the child will think that this virus is self and learn it and recognize it as self. As such, it might not have a proper response when the child is infected again with these infections as an adult.

51
Q

rubéole classic triade

A

surdité, anomalies cardiaques, anomalies oculaires (généralement une sténose de l’artère pulmonaire)

52
Q

What is recomended for a mother who might have an infection

A

If antibodies for these diseases are present in the mother, then they are likely in the baby

Un bilan d’IgM maternel pour TORCHS est généralement demandé en présence d’un phénotype suggestif

53
Q

**IgM vs IgG: **

A

IgM first response then IgG

This is key because in an infected mother that has one of these diseases for the first time, they will generate IgMs. So, the serum of the mother will have IgMs meaning the mother has been affected by say Toxoplasmosis recently and the baby can be affected.

However, if the mother’s serum contains IgG, the mother likely had the disease a long time ago and has developed a proper response and so the baby is safe.

MMD1045: Module 2 (11 decks)

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