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Physiology 2 > systemic embryology and congenital malformations > Flashcards

systemic embryology and congenital malformations Flashcards

1
Q

what happens in gastrulation?

A

formation of the trilaminar germ disc from bilaminar germ disc

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2
Q

what does the ectodermal germ layer give rise to?

A

organs and structures that maintain contact with outside world
forms the neuroectoderm that leads to formation of neural tube
neural crest cells
pituitary glands
sensory epithelium of ear, nose and eye
epidermis of skin and integumentary structures
enamel of teeth
orla and proctodeal epithelium

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3
Q

what is the process that forms neural tube?

A

neurulation

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4
Q

what are integumentary structures?

A

hair, nails, sweat glands and mammary glands

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5
Q

what is the proctodeal

A

anal canal

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6
Q

what are the parts of the mesoderm?

A

paraxial mesoderm
intermediate mesoderm
lateral plate mesoderm

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7
Q

what does the paraxial mesoderm form?

A

segmental blocks - somitomeres - neuromeres in head region and associated with neural plate

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8
Q

what do neuromeres do?

A

contribute to mesenchyme in head

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9
Q

what is a mesenchyme?

A

connective tissue

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10
Q

formation of somites

A

from the occipital region down the somitomeres form segmented pairs of blocks of mesoderm - somites on either side of developing neural tube

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11
Q

when does the first pair of somites arise?

A

20th day of development

new somites appear craniocaudally at 3 pairs/ day

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12
Q

how many pairs of somites?

A 
at end of 5th week 42-44 pairs have been formed 
4 occipital 
8 cervical
12 thoracic
5 lumbar
5 sacral 
8-10 . coccygeal 
can be used to determine age of embryo
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13
Q

role of intermediate mesoderm

A

contribute in formation of structures of the urogenital system - primordial germ cells, gametes and gonads

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14
Q

lateral plate mesoderm

A

splits into parietal and visceral layers

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15
Q

what is the parietal layer

A

somatic
lines the body cavity walls
with overlying ectoderm forms lateral body wall

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16
Q

what does the lateral plate mesoderm form?

A 
dermis of skin in body wall 
limb bones
connective tissue of limbs
sternum
costal cartilage
limb muscles 
body wall muscles 
lining of peritoneal, pleural and pericardial cavities and secrete serous fluid
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17
Q

what forms the blood cells and vessels?

A

lateral plate mesoderm

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18
Q

what forms the wall of the gut tube?

A

mesoderm of visceral layer and endoderm

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19
Q

what does the endoderm formed?

A

epithelial lining of GI tract, respiratory tract, urinary bladder, urethra, tympanic cavity and auditory tube
parenchyma of thyroid, parathyroid, liver and pancreas

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20
Q

what is parenchyma

A

the functional tissue of an organ distinguished from supportive/ connective tissue

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21
Q

where is smooth muscle derived from?

A

mesoderm

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22
Q

morphogenesis

A

form-shaping process in an embryo, controlled by fundamental cell behaviours that result in differential tissue growth

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23
Q

what are cellular behaviours?

A

changes in cell shape, size, position, number, migration and adhesivity

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24
Q

formation of birth defects

A

interference with differential tissue growth in an embryo that could be caused by genetic mutation, teratogen exposure or a combination of both

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25
Q

what is the word for formation of birth defects?

A

dysmorphogenesis

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26
Q

normogenesis

A

individuals who develop within close range of abstract norm in form and function

27
Q

structural birth defects

A

involved both malformations and deformation resulting from abnormal development

28
Q

other words for birth defects

A

congenital malformations, congenital anomaly

describe structural, behavioural, functional and metabolic disorders present at birth

29
Q

malformations

A

consist of primary morphologic defects in an organ or body part and result from disturbance of developmental events or processes directly involved in formation of a particular structure

30
Q

what causes malformations?

A

environmental and or genetic factors acting independently or together

31
Q

what are environmental factors called?

A

teratogens

32
Q

deformation

A

consist of secondary morphologic defects that are imposed upon an organ or body part due to mechanical forces over a prolonged period - indirect effect

33
Q

example of malformation

A

neural tube defects

34
Q

example of deformation

A

clubfeet due to compression in amniotic cavity due to insufficient amniotic fluid

35
Q

insufficient amniotic fluid

A

oligohydramnios

36
Q

destructive processes

A

morphological alterations of already formed structures due to destructive processes

37
Q

examples of destructive processes

A

produced by amniotic bands - cleft lip, toe and finger amputations

38
Q

malformation syndrome

A

when dysmorphogenesis occurs as a pattern of well characterised multiple primary malformations appearing together in a predictable fashion in one or more tissues due to a specific underlying single or common cause

39
Q

downs syndrome

A

trisomy 21

40
Q

symptoms of downs syndrome

A 
flat facial feature with a small nose
reduced muscle tone - hypotonia
upward/ downward slant to eye
enlarge tongue that sticks out 
single deep crease across centre of palm 
hyperflexibility of joints
41
Q

examples of malformation sydrome

A

fetal alcohol syndrome/ fetal alcohol spectrum disorder

42
Q

symptoms of fetal alcohol syndrome

A

short palpebral fissure lengths
smooth philtrum
thin upper lip
brain damage

43
Q

what is a teratogen?

A

any factor or agent that causes birth defect or congenital malformation or congenital anomaly

44
Q

what determines the capacity of an agent to produce birth defects

A

genotype of conceptus and maternal genome
developmental stage at the time of exposure to teratogens
dose and duration of exposure to a teratogen

45
Q

mechanism of teratology

A

action of a teratogen is the specific ways in which it acts on developing cells and tissues to initiate abnormal embryogenesis
may involve inhibition of specific biochemical or molecular process or pathway

46
Q

pathogenesis

A

the abnormal developmental processes that result in dysmorphogenesis
may involve cell death, decreased cell proliferation

47
Q

what are the manifestations of abnormal development?

A

death
malformation
growth retardation
functional disorders

48
Q

gastrulation

A

stage in embryonic development at beginning of the third week and is highly sensitive stage for teratogenic insult

49
Q

what cells are damaged by teratogens

A

ingressing epiblastic cells whose fate has already been determined at or before the time of gastrulation

50
Q

examples of errors in gastrulation

A 
holoprosencephaly
caudal regression syndrome e.g. sirenomelia 
situs inversus 
laterality sequences 
sacrococcygeal teratomas
51
Q

holoprosencephaly

A

high doses of alcohol during gastrulation may kill cells of the anterior midline of the germ disc leading to deficiency of midline in craniofacial structures
small forebrain
merged lateral ventricles
eyes are close together

52
Q

caudal dysplasia

A

mesodermal insufficiency in caudal most region of embryo which contributes to formation of lower limbs, urogenital system and lumbosacral vertebrae

53
Q

what is caudal dysplasia associated with

A

maternal diabetes in humans

54
Q

situs inversus

A

condition with transposition of viscera in thorax and abdomen

55
Q

laterality sequences

A

not complete situs inversus but are predominantly bilaterally either left or right sided
can cause polysplenia, asplenia or hypoplastic spleen
they are likely to have heart defects

56
Q

sacrococcygeal teratomas

A

where remnants of the primitive streak persist in the sacrococcygeal region to form tumours

57
Q

assessing health of unborn

A

maternal serum screening - maternal serum alpha-feto-protein plus

58
Q

MSAFP

A 
maternal serum alpha-feto protein plus
measures:
maternal serum alpha-feto protein 
human chorionic gonadotropin
unconjugated estriol 
inhibin-A
59
Q

maternal serum alpha-feto-protein

A

produced by fetal liver - level increases steadily during pregnancy

60
Q

hCG

A

produced by placenta, levels peak at week 14 and dropping after

61
Q

unconjugated estriol

A

produced by placenta

62
Q

inhibin-A

A

produced by fetus and placenta

63
Q

what does high maternal serum AFP suggest?

A

neural tube defects

64
Q

what does high maternal hCG and inhibin-A levels and low estriol suggest

A

downs syndrome

Physiology 2 (20 decks)

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