Developmental Origin Of Disease

Question 1

Sperm and ovum meet when?

Answer 1

12-24 hours after ovulation

Question 2

Sperm penetrates?

Answer 2

Corona radiate and zona pellucida

Question 3

What reaction makes the ovum impermeable to other sperm?

Answer 3

Acrosome

Question 4

First mitotic division happens when?

Answer 4

30 hours post fertilisation

Question 5

Day 3 embryo?

Answer 5

16 cell a blastomere, solid sphere known as morula

Question 6

When does inner cell mass split?

Answer 6

After it implants

Question 7

What creates the yolk sac?

Answer 7

Exocoelomic membrane

Question 8

By week 4 what happens?

Answer 8

Flat disc fold into 2 direction, longitudinal day 21

And lateral day 18

Question 9

Mesoderm splits into 3 parts?

Answer 9

Intermediate
Paraxial
Lateral plate

Question 10

Paraxial mesoderm becomes?

Answer 10

Somites, 42-44 pairs formed

Question 11

Somites undergo differentiation to form?

Answer 11

Dermomyotomes- connective tissue/muscles

Sclerotomes- bone/cartilage

Question 12

Intermediate mesoderm gives rise to?

Answer 12

Kidneys, gonads, urogenital ducts and associates glands

Question 13

Lateral plate mesoderm gives rise to?

Answer 13

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

Question 14

Intraembryonic cavity becomes?

Answer 14

Bend in the U- pericardial

Limb of the U- pleural and peritoneal cavities

Question 15

Heart development occurs between weeks?

Answer 15

2 and 7

Question 16

Heart primordial arises from?

Answer 16

Splanchnic mesoderm

Question 17

How are endocardial heart tubes formed?

Answer 17

From angioblastic cords

Question 18

What gives rise to aortic arches?

Answer 18

Bulbous cordis

Question 19

Sinus venous becomes?

Answer 19

Right atrium, venae cavae

Coronary sinus

Question 20

Primordial atrium gives rise to?

Answer 20

Right and left auricle and left atrium

Question 21

Primordial ventricle gives rise to?

Answer 21

Left ventricle

Question 22

Bulbous cordis gives rise to?

Answer 22

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

Question 23

Aortic sac gives rise to?

Answer 23

Aorta and pulmonary artery

Question 24

Cardiac looping occurs when?

Answer 24

Week 4-5

Question 25

Partitioning of heart starts at?

Answer 25

Middle of week 4- end of week 5

Question 26

The gap between septum primula and endocardial cushions is called?

Answer 26

Foramen primum

Question 27

Foramen Secunderabad develops at weeks?

Answer 27

5 and 6

Question 28

Atrial septal defects happen?

Answer 28

Ostium Secundum misdportion most common Ostium primum Sinus venous

Question 29

Atrial septal defects can cause?

Answer 29

split S2 murmurs

Question 30

Atrial-ventricular septal defect is common in who?

Answer 30

Downs children

Question 31

Transposition?

Answer 31

Aorta gets connected to righ ventricle | And pulmonary trunk to left

Question 32

Persistent Truncus arteriosus defect?

Answer 32

Pulmonary artery remains connected to aorta?

Question 33

Teratology of fallot?

Answer 33

Pulmonary stenosis because of unequal division. Ventricular septal defect

Question 34

Pulmonary artery connection to aorta is called?

Answer 34

Ductus arteriosus

Question 35

Secondary heart fields?

Answer 35

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

Question 36

Birth defects account for what percent of infant death?

Answer 36

20

Question 37

What percent of live births are affected by major anomalies?

Answer 37

2-3

Question 38

Incidence minor anomalies?

Answer 38

7-41%

Question 39

Congenital hip dysplasia risk factor?

Answer 39

Breech

Question 40

Syndrome is?

Answer 40

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

Question 41

VACTERL association?

Answer 41

``` Vertebral anomalies Anal atresia Cardiovascular anomalies Tracheoesophageal fistula Esophageal atresia Renal and or radial anomalies Limb defects ```

Question 42

CHARGE syndrome due to CHD7 gene?

Answer 42

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

Question 43

Sequence?

Answer 43

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) ```

Question 44

Malformations happen?

Answer 44

3-8 weeks of gestation

Question 45

Congenital infections traditionally called TORCH, standing for?

Answer 45

``` Toxoplasmosis O Rubella CMV Histoplasmosis, hepatitis ```

Question 46

Medication teratogens?

Answer 46

Sodium valproate Warfarin Thalidomide

Question 47

Fetal alcohol syndrome shows?

Answer 47

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

Question 48

Chromosomal abnormalities prevalence?

Answer 48

1 in 170

Question 49

Sex chromosome abnormalities prevalence?

Answer 49

33%

Question 50

Trios it’s prevalence in chromosome number abnormalities?

Answer 50

25%

Question 51

Downs prevalence?

Answer 51

1 in 1000, 95% due to non-disjunction

Question 52

Turners prevalence?

Answer 52

1 in 2500

Question 53

Neurofibromatosis type 1?

Answer 53

Autosomal dominant NF1 gene chromosome 17 1:3000

Question 54

Clinical features of Neurofibromatosis type 1?

Answer 54

``` Cafe au lait spots Neurofibromas Freckling Optic gliomas Phaechromocytoma ```

Question 55

Duchennes muscular dystrophy prevalence?

Answer 55

1 in 3500

Question 56

Duchennes muscular dystrophy affect what gene?

Answer 56

X linked DMD gene

Question 57

Clinical features of duchennes muscular dystrophy?

Answer 57

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

Question 58

Testing for duchennes?

Answer 58

Creative phosphokinase 5-10 x higher

Question 59

Treatment for duchennes?

Answer 59

Corticosteroids gene therapy

Question 60

Fragile x syndrome caused ny?

Answer 60

Trinucleotide repeat over 200 CGG, FMR1 gene

Question 61

Fragile x syndrome signs?

Answer 61

``` Broad forehead Elongated face Large prominent ears Highly arched pallets Strabismus (crease eyes) ```

Question 62

Prader William syndrome cause?

Answer 62

Deletions in 15q11.2 gene

Question 63

Imprinting?

Answer 63

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

Question 64

15% of children have a defect in the gene?

Answer 64

Filaggrin causing skin problems