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203 > Developmental Origin Of Disease > Flashcards

Developmental Origin Of Disease Flashcards

1
Q

Sperm and ovum meet when?

A

12-24 hours after ovulation

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2
Q

Sperm penetrates?

A

Corona radiate and zona pellucida

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3
Q

What reaction makes the ovum impermeable to other sperm?

A

Acrosome

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4
Q

First mitotic division happens when?

A

30 hours post fertilisation

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5
Q

Day 3 embryo?

A

16 cell a blastomere, solid sphere known as morula

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6
Q

When does inner cell mass split?

A

After it implants

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7
Q

What creates the yolk sac?

A

Exocoelomic membrane

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8
Q

By week 4 what happens?

A

Flat disc fold into 2 direction, longitudinal day 21

And lateral day 18

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9
Q

Mesoderm splits into 3 parts?

A

Intermediate
Paraxial
Lateral plate

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10
Q

Paraxial mesoderm becomes?

A

Somites, 42-44 pairs formed

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11
Q

Somites undergo differentiation to form?

A

Dermomyotomes- connective tissue/muscles

Sclerotomes- bone/cartilage

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12
Q

Intermediate mesoderm gives rise to?

A

Kidneys, gonads, urogenital ducts and associates glands

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13
Q

Lateral plate mesoderm gives rise to?

A

Parietal or somatic layer (body wall) and splanchnic layer (body organs)

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14
Q

Intraembryonic cavity becomes?

A

Bend in the U- pericardial

Limb of the U- pleural and peritoneal cavities

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15
Q

Heart development occurs between weeks?

A

2 and 7

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16
Q

Heart primordial arises from?

A

Splanchnic mesoderm

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17
Q

How are endocardial heart tubes formed?

A

From angioblastic cords

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18
Q

What gives rise to aortic arches?

A

Bulbous cordis

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19
Q

Sinus venous becomes?

A

Right atrium, venae cavae

Coronary sinus

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20
Q

Primordial atrium gives rise to?

A

Right and left auricle and left atrium

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21
Q

Primordial ventricle gives rise to?

A

Left ventricle

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22
Q

Bulbous cordis gives rise to?

A

1/3- muscular right ventricle
Conus cordis- smooth outflow portions of right and left ventricles
Trounces arteriosus- proximal outa and pulmonary trunk

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23
Q

Aortic sac gives rise to?

A

Aorta and pulmonary artery

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24
Q

Cardiac looping occurs when?

A

Week 4-5

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25
Q

Partitioning of heart starts at?

A

Middle of week 4- end of week 5

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26
Q

The gap between septum primula and endocardial cushions is called?

A

Foramen primum

27
Q

Foramen Secunderabad develops at weeks?

A

5 and 6

28
Q

Atrial septal defects happen?

A

Ostium Secundum misdportion most common
Ostium primum
Sinus venous

29
Q

Atrial septal defects can cause?

A

split S2 murmurs

30
Q

Atrial-ventricular septal defect is common in who?

A

Downs children

31
Q

Transposition?

A

Aorta gets connected to righ ventricle

And pulmonary trunk to left

32
Q

Persistent Truncus arteriosus defect?

A

Pulmonary artery remains connected to aorta?

33
Q

Teratology of fallot?

A

Pulmonary stenosis because of unequal division.

Ventricular septal defect

34
Q

Pulmonary artery connection to aorta is called?

A

Ductus arteriosus

35
Q

Secondary heart fields?

A

Right ventricle and outflow tracts- more prone to disturbances during development

36
Q

Birth defects account for what percent of infant death?

A

20

37
Q

What percent of live births are affected by major anomalies?

A

2-3

38
Q

Incidence minor anomalies?

A

7-41%

39
Q

Congenital hip dysplasia risk factor?

A

Breech

40
Q

Syndrome is?

A

Defects happen in a consistent pattern with a common cause and recurrence risk

41
Q

VACTERL association?

A 
Vertebral anomalies
Anal atresia 
Cardiovascular anomalies
Tracheoesophageal fistula
Esophageal atresia
Renal and or radial anomalies
Limb defects
42
Q

CHARGE syndrome due to CHD7 gene?

A 
Coloboma
Heart disease
Atresia choanal (back of nasal passage is blocked)
Retarded growth
Genital anomalies
Ear anomalies
43
Q

Sequence?

A

Structural problems and multiple anomalies related to a single primary anomaly or mechanical factor

Amniotic band sequence 
Potter sequence (kidney abnormalities, too little fluid around baby, underdeveloped lungs and facial abnormalities)
44
Q

Malformations happen?

A

3-8 weeks of gestation

45
Q

Congenital infections traditionally called TORCH, standing for?

A 
Toxoplasmosis
O
Rubella
CMV
Histoplasmosis, hepatitis
46
Q

Medication teratogens?

A

Sodium valproate
Warfarin
Thalidomide

47
Q

Fetal alcohol syndrome shows?

A 
Growth restriction
Learning difficulties
Thin upper lip
Smooth filtrum (between nose and mouth)
Short palpebral fissures
48
Q

Chromosomal abnormalities prevalence?

A

1 in 170

49
Q

Sex chromosome abnormalities prevalence?

A

33%

50
Q

Trios it’s prevalence in chromosome number abnormalities?

A

25%

51
Q

Downs prevalence?

A

1 in 1000, 95% due to non-disjunction

52
Q

Turners prevalence?

A

1 in 2500

53
Q

Neurofibromatosis type 1?

A

Autosomal dominant
NF1 gene chromosome 17
1:3000

54
Q

Clinical features of Neurofibromatosis type 1?

A 
Cafe au lait spots 
Neurofibromas
Freckling
Optic gliomas
Phaechromocytoma
55
Q

Duchennes muscular dystrophy prevalence?

A

1 in 3500

56
Q

Duchennes muscular dystrophy affect what gene?

A

X linked DMD gene

57
Q

Clinical features of duchennes muscular dystrophy?

A 
Delayed motor milestone
Muscle weakness in proximal muscles
Gower’s sign- push their self off ground 
Hypertrophy of calf muscles
Cardiomyopathy
58
Q

Testing for duchennes?

A

Creative phosphokinase 5-10 x higher

59
Q

Treatment for duchennes?

A

Corticosteroids gene therapy

60
Q

Fragile x syndrome caused ny?

A

Trinucleotide repeat over 200 CGG, FMR1 gene

61
Q

Fragile x syndrome signs?

A 
Broad forehead
Elongated face
Large prominent ears
Highly arched pallets
Strabismus (crease eyes)
62
Q

Prader William syndrome cause?

A

Deletions in 15q11.2 gene

63
Q

Imprinting?

A

A gene from one parent is turned off other activated
PWS- deletion in paternal
Angelmans- deletion in maternal

64
Q

15% of children have a defect in the gene?

A

Filaggrin causing skin problems

203 (74 decks)

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