Embryo Exam 1 Flashcards

1
Q

What are primordial germ cells?

A

precursors of the sperm and oocyte

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2
Q

Where do PGCs reside?

A

Yolk Sac

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3
Q

What ploidy are PGCs?

A

Diploid

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4
Q

What are male somatic support cells?

A

Sertoli and Leydig cells

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5
Q

What are female somatic support cells?

A

Granulosa cells and thecal cells

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6
Q

What is the name for DNA + Histone proteins?

A

Nucleosome

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7
Q

Chromatin

A

a higher order structure of DNA and histone

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8
Q

Chromosomes

A

A higher order structure of chromatin

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9
Q

Chromatid

A

One of the two identical halves of a chromosome that has been replicated in preparation for cell division

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10
Q

Ploidy

A

number of sets of chromosomes (haploid, diploid)

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11
Q

n

A

number of copies of each unique double-stranded DNA molecule

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12
Q

What is the correlation between n and ploidy?

A

There is NO strict correlation between n and ploidy.

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13
Q

After S phase, is a cell with 4n chromosomes haploid or diploid?

A

Diploid

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14
Q

Cell growth

A

increase in cell SIZE

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15
Q

Cell division

A

Increase in cell number (mitosis and cytokinesis)

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16
Q

Cell proliferation

A

Cell growth plus division

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17
Q

What are sister chromatids closely held together by?

A

Cohesins

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18
Q

What enzyme cleaves the cohesin complex at the beginning of anaphase?

A

Separase

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19
Q

Chiasmata

A

Sites of crossover

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20
Q

Mitosis

A

Diploid to diploid

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21
Q

Meiosis

A

diploid to haploid to haploid

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22
Q

What cellular processes can PGCs undergo?

A

Mitosis and Meiosis

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23
Q

What cellular processes can somatic cells undergo?

A

Only mitosis

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24
Q

Do oogonia complete mitosis and meiosis?

A

Oogonia in the embryonic ovary complete mitotic divisions and enter meiosis 1 by the fifth month of fetal development but are arrested in meiosis 1.

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25
Q

Is a primary oocyte haploid or diploid?

A

diploid

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26
Q

Is a secondary oocyte haploid or diploid?

A

haploid

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27
Q

How many primary oocytes does an ovary contain at birth?

A

1 to 2 million

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28
Q

How many oocytes remain in the ovaries at puberty?

A

only 300,000

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29
Q

How many primordial follicles develop enough to expel their ova between 13 and 46?

A

400 to 500

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30
Q

Zona Pellucida

A

Thin layer of acellular material on the surface of an oocyte secreted both by the follicle cells and oocyte

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31
Q

Where does fluid accumulate in a mature graafian follicle?

A

Antrum

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32
Q

What is the small mass of follicle cells that surrounds the secondary oocyte called?

A

cumulus oophorus (second layer)

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33
Q

what is the inner most layer of the cumulus oophorus called?

A

corona radiata (first layer)

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34
Q

What is the name of the phase of the menstrual cycle that spans from day 28 to day 5?

A

menstrual phase

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35
Q

What is the name of the phase of the menstrual cycle that spans from day 5 to 14?

A

Proliferative phase

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36
Q

What is the name of the phase of the menstrual cycle that spans from day 14 to 27?

A

Luteal phase

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37
Q

What is the name of the phase of the menstrual cycle that spans from day 27 to 28?

A

ischemia phase

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38
Q

What two hormones peak at day 13 of the menstrual cycle?

A

FSH and LH

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39
Q

What day does ovulation occur?

A

Day 14

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40
Q

What cells does LH act on?

A

thecal cells

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41
Q

What cells does FSH act on?

A

granulosa cells

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42
Q

What happens to thecal cells when they respond to LH?

A

Become contractile

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43
Q

What is the function of MMPs?

A

MMPs help break the membrana granuloosa leading to antral follicle rupture

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44
Q

How is the oocyte/cumulus complex moved into the ampulla by?

A
  1. synchronized beating of the cilia on the oviduct wall
  2. peristalsis
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45
Q

Where do the luteal cells of the corpus luteum derive from?

A

membrane granulosa cells of the ruptured follicular wall

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46
Q

What two hormones does the corpus luteum secrete?

A

Progesterone and estrogen

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47
Q

What do progesterone and estrogen from the corpus luteum maintain?

A

the endometrium in a condition to receive the embryo

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48
Q

What if the oocyte is not fertilized?

A

the corpus luteum involutes, degenerates 10 to 12 days after ovulation and is converted to a white scar-like structure called the corpus albicans

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49
Q

What is corpus albicans?

A

white scar-like tissue formed after mature corpus luteum shrivels if not fertilized

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50
Q

What occurs during the proliferative phase?

A

estrogen secreted by the granulosa and thecal cells will cause the endometrial lining of the uterus to proliferate

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51
Q

What occurs during the luteal phase?

A

progesterone will stimulate the uterine endometrial layer to thicken further and form convoluted glands and increased vasculature

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52
Q

When does spermatogenesis occur from?

A

continuously from puberty to death

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53
Q

What connects adjacent sertoli cells?

A

tight junctions (blood testis barrier)

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54
Q

What does the blood testis barrier do?

A

seals apical compartment from immune system

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55
Q

What are daughter cells connected by?

A

cytoplasmic bridges

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56
Q

During male puberty, what happens with some of the daughter cells?

A

go back to replenish the stem cell pool to continue the process of spermatogenesis

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57
Q

Spermatogenic wave

A

successive groups of syncytial germ cells progressing through the various stages of differentiation form this

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58
Q

What connects spermatocytes and spermatids to surrounding sertoli cells during spermiogenesis?

A

inter-cellular junctions called tubulo-bulbar complexes

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59
Q

Acrosome

A

contains hydrolytic enzymes such as acrosin, hyaluronidase, and neuraminidase (helps break zona pellucida)

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60
Q

where does capacitation occur?

A

uterus and uterine tubes

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61
Q

What allows for the acrosome reaction to occur?

A

completion of capacitation

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62
Q

what is capacitation?

A
  1. unmasking of sperm glycosyltransferases from surface of acrosome
  2. removal of adherent plasma proteins coating the surface of the sperm
  3. sperm become hyperactive
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63
Q

What is the size of an oocyte compared to a sperm?

A

an oocyte is much larger than a sperm

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64
Q

what is the vaginal pH?

A

5.7 (acidic)

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65
Q

what regulates sperm entry into vaginal canal?

A

cervical mucus

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66
Q

what plugs the cervical canal?

A

mucosal closure at the internal and external cervical OS, as well as by the consistency of the cervical mucus.

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67
Q

When do the chances of conception increase?

A

in the days leading up to ovulation

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68
Q

Can sperm penetrate through progesterone in cervix?

A

NO

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69
Q

Can sperm penetrate through estrogen in cervix?

A

YES

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70
Q

Describe estrogen characteristics in cervix

A

abundant, clear, stretchable mucus (spinnable)

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71
Q

describe progesterone characteristics in cervix

A

scant, thick, tacky (nonspinnable)

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72
Q

Isthmus

A

proximal part of fallopian tube

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73
Q

ampulla

A

distal part of fallopian tube

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74
Q

where does fertilization occur?

A

ampulla

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75
Q

What do ovulated follicles contain?

A

a sperm chemotropic factor and only capacitated sperm is able to respond to this factor

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76
Q

what is ZP3?

A

sperm receptor glycoprotein expressed by zona pellucida

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77
Q

what does SED1 recognize on sperm?

A

ZP3

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78
Q

what does ZP3 trigger?

A

acrosome reaction

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79
Q

How is polyspermy prevented?

A
  1. fast block - oocyte membrane depolarization
  2. slow block - formation of Ca2+ wave, release of cortical granules, inactivation of ZP3, and zona pellucida becomes impermeable
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80
Q

what is the function of the calcium wave in the prevention of polyspermy?

A

induces the oocyte to complete meiosis II

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81
Q

Maternal and paternal nondisjunction can result in what two clinical considerations?

A

trisomy 21 (down’s syndrome)
turner syndrome (missing/altered X)

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82
Q

What defines an infertile man?

A

less than 10 million sperm/mL of semen

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83
Q

what does Hypogonadotropic hypogonadism (HH) lead to?

A

reduced levels of FSH and LH and underdevelopment of ovaries and testicles

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84
Q

What is the main fertility drug taken by females?

A

clomiphene citrate

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85
Q

What characterizes premature ovarian failure in females?

A

loss of function of ovary before age 40

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86
Q

What characterizes pelvic inflammatory disease?

A

infection of uterus, uterine tubes, or ovaries leading to inflammation and scar formation (affects ciliary motility)

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87
Q

what characterizes endometriosis?

A

appearance of foci of endometrial tissue in abnormal locations outside uterus

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88
Q

what induces ovaries to superovulate?

A

administration of gonadotropin or FSH

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89
Q

what is IVF?

A

ova fertilized in vitro with sperm fraction concentrate. Embryo transferred directly into uterus, bypassing tubal occlusion

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90
Q

When is intra-cytoplasmic sperm injection used?

A

in cases where the male’s spermatozoa are unable to penetrate zona pellucida

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91
Q

when is gamete intra-fallopian transfer used?

A

used in cases where the female’s oviduct is normal but the male is infertile because of an innate deficiency in sperm motility

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92
Q

when is zygote intra-fallopian transfer used?

A

in cases where the female’s oviduct is normal but the male is infertile because of an innate deficiency in sperm motility

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93
Q

what happens to the size of blastomeres during cleavage?

A

do not increase in size

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94
Q

what is compaction?

A

the flattening of round blastomeres and increased cell-to-cell contact among adjacent blastomeres

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95
Q

when does hatching occur?

A

day 5

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96
Q

what is hatching

A

rupture of the zone of pellucida

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97
Q

what is hatching caused by?

A

increased mechanical pressure of growing blastocyte and secretion of proteolytic enzymes by trophoblastic cells

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98
Q

totipotency

A

the ability to form any type of differentiated cell

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99
Q

pluripotency

A

the ability to form more than one type (but not all types) of differentiated cell

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100
Q

where does implantation occur

A

superior, posterior portion of the uterus

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101
Q

what is the primary source of the placenta?

A

blastocytes

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102
Q

what is the inner lining of the uterus called

A

endometrium (decidua)

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103
Q

what are syncytiotrophoblasts

A

cells that secrete HCG (pregnancy hormone)

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104
Q

what will hCG support

A

corpus luteum

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105
Q

what do pregnancy tests detect

A

hCG

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106
Q

when does implantation occur

A

day 7

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107
Q

what is syncytium

A

a mass of cytoplasm containing numerous dispersed nuclei (no cell borders)

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108
Q

what occurs when the embryo becomes fully implanted in the endometrium

A
  1. cytotrophoblast secrete MMPs
  2. active finger-like processes extend from the syncytiotrophoblast then penetrate between the separating endometrial cells
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109
Q

what cells do inner cell mass (embryoblasts) differentiate into

A

epiblasts (dorsal) and hypoblasts (ventral)

110
Q

what cells form the yolk sac membrane

A

hypoblastic cells

111
Q

what is another name for the yolk sac membrane

A

Heuser’s membrane

112
Q

what is the name of the two layered embryoblast

A

bilaminar embryonic disc

113
Q

what are the bilaminar embryonic disc, yolk cavity, and amniotic cavity surrounded by

A

extraembryonic mesoderm

114
Q

what do the spaces within the extraembryonic mesoderm that get bigger and coalesce form

A

extraembryonic coelom or chorionic cavity

115
Q

what does the secondary umbilical vesicle form

A

yolk cavity proper

116
Q

what suspends the bilaminar embryonic disc, the yolk, and the amniotic cavity in the chorionic cavity

A

connecting stalk

117
Q

by the end of 14 days, what are the 3 cavities formed

A

amniotic cavity, yolk cavity, chorionic cavity

118
Q

what are the 4 extraembryonic membranes formed by the end of 14 days

A

amnion, yolk sac, chorion, allantois

119
Q

what defines an ectopic pregnancy

A
  1. implantation of the embryo in a site other than a normal intrauterine location
  2. lack of coordination between hatching and movement of blastula to uterine cavity
120
Q

what is the normal site of embryo implantation

A

superior and posterior part of uterus

121
Q

where do 90% of ectopic pregnancies form

A

fallopian tube

122
Q

what factors contribute to tubal pregnancy

A
  1. 35-50% of ectopic pregnancies form due to prior pelvic inflammatory disease
  2. appendicitis, endometriosis, and previous surgery
  3. pregnancy with IUD
123
Q

difference between complete mole and partial mole

A

complete mole has loss of genetic material in ovum whereas partial mole has too much genetic material

124
Q

does a complete mole support a fetus

A

no, but placental membranes

125
Q

does a partial mole support a fetus

A

yes

126
Q

what must be followed after curettage for molar pregnancy

A

hCG levels for 6 months to 1 year

127
Q

what percent of hydatidiform moles are invasive

A

15%

128
Q

what structure may embolize to sites such as lungs and brain with invasive moles

A

hydropic villi

129
Q

what diagnostic lab value is seen with invasive moles

A

persistently elevated serum hCG

130
Q

what is the response rate to chemotherapy with invasive moles

A

very well

131
Q

what is the severity of gestational choriocarcinoma

A

rapidly invasive and can metastasize

132
Q

where are the two most common sites for the metastasis of gestational choriocarcinoma

A

lungs (50%) and vagina (30-40%)

133
Q

how responsive is gestational choriocarcinoma to chemo

A

100% remission and high CURE rate

134
Q

what diagnostic lab value is seen with gestational choriocarcinoma

A

elevated hCG

135
Q

what term describes female genetics

A

genetic mosaics

136
Q

why is one X chromosome inactivated in females

A

dosage compensation

137
Q

mosaic

A

genetically distinct cells arising from one zygote

138
Q

chimera

A

genetically different cells arising from two zygotes

139
Q

what type of disease is duchenne muscular dystrophy

A

x-linked

140
Q

what is the timeframe of the embryonic period

A

15 days to 8 weeks

141
Q

what is the defining characteristic that can occur during the embryonic period

A

embryo most susceptible to teratogens

142
Q

what is the name of the epiblastic thickening that forms along the midsagittal plane

A

primitive streak

143
Q

what is another name of the cranial end of the primitive streak that is expanded into the primitive node

A

Hensen’s node

144
Q

what does the formation of the primitive streak and hensen’s node determine

A

right and left side of the embryo

145
Q

What causes directional left-right asymmetry

A

asymmetric expression and function of genes

145
Q

what is situs inversus

A

sidedness reversed (organs develop on opposite side of body than normal)

146
Q

what are the 2 outcomes that make up Kartagener syndrome

A

situs inversus and primary ciliary dyskinesia

147
Q

what does the formation of the primitive streak mark

A

the beginning of gastrulation

148
Q

definition of gastrulation

A

generation of 3 germ layers (ectoderm, mesoderm, and endoderm)

149
Q

what does the oropharyngeal membrane later form

A

the mouth

150
Q

what does the cloacal membrane later form

A

the anus

151
Q

how would you describe the mesoderm in the primitive streak

A

intraembryonic

151
Q

what begins the formation of the notochord

A

the notochordal process

152
Q

what are the characteristics of the notochord

A
  1. a mesodermal derivative
  2. a transient, embryonic structure
153
Q

definition of neurulation

A

formation of the neural tube from the ectoderm

154
Q

what is secreted by the notochord as a critical inductive signal

A

Shh

155
Q

on what day does invagination begin

A

day 18

156
Q

on what day does closure begin

A

day 22

157
Q

on what day is anterior neuropore closure complete

A

day 25

158
Q

on what day is posterior neuropore closure complete

A

day 27

159
Q

what should all women of childbearing age consume daily and in what amount

A

.4 mg (400 micrograms) of folic acid

160
Q

what is the medullary cord derived from

A

mesenchymal cells

161
Q

what is the neural tube derived from

A

ectoderm

162
Q

what does the secondary neural tube arise from

A

the medullary cord (condensed mesenchymal cells)

163
Q

where do the primary and secondary neural tubes fuse at

A

lumbo-sacral boundary

164
Q

what process do cells at the dorsal margins of the neural tube undergo

A

epithelial-mesenchymal transition (EMT)

165
Q

what kind of cells does the process of epithelial-mesenchymal transition form

A

neural crest cells

166
Q

what can altered neural crest development lead to

A

neurocristopatheis

167
Q

what are the 4 neural crest types

A
  1. cranial
  2. vagal
  3. trunk
  4. lumbo-sacral
168
Q

what are somites

A

segmental axial structures of vertebrate embryos that give rise to body segments

169
Q

what is the cause of sacrococcygeal teratoma

A

misplaced germ cells

170
Q

what is the most common site for a teratoma in infants

A

sacrococcygeal region

171
Q

what type of cells are the ones that form sacrococcygeal teratomas

A

pluripotent

172
Q

what are the complications associated with sacrococcygeal teratomas

A
  1. tumor induced vascular steal syndrome leads to high output heart failure
  2. polyhydramnios and fetal hydrops
173
Q

what is the cause of caudal dysplasia

A

abnormal gastrulation- migration of mesodermal precursors is disturbed

174
Q

what is caudal dysplasia associated with

A

VATER (vertebral defects, anal atresia, tracheoesophageal fistula, renal defects)
VACTERL (VATER plus cardiovascular defects and upper limb defects)

175
Q

what syndrome is caused by caudal dysplasia

A

sirenomelia (mermaid syndrome)

176
Q

what causes spina bifida occulta

A

failure of bony fusion and no displacement of spinal canal contents

177
Q

where does spina bifida occulta form

A

lumbo sacral boundary

178
Q

what causes spina bifida

A

failure of caudal neuropore closure

179
Q

where do more severe deficits occur in patients with spina bifida

A

the more cranial the location the more severe the deficits

180
Q

characteristic of spina bifida with meningocele

A

meningeal cyst free of neural elements

181
Q

characteristic of spina bifida with meningomyelocele

A

nerve roots protrude into cyst

182
Q

what is the cause of spina bifida with rachischisis

A

failure of caudal neuropore closure

183
Q

what is the cause of anencephaly

A

failure of cranial neuropore closure

184
Q

what procedures can diagnose anencephaly prenatally

A

ultrasound and elevated alpha fetoprotein in maternal blood and amniotic fluid

185
Q

what is a schwannoma

A

benign tumor of schwann cells of neural crest origin

186
Q

what is the most common location for a schwannoma to reside

A

within the cranial vault in the cerebellopontine angle

187
Q

what are the schwannomas that form within the cerebellopontine angle called

A

vestibular schwannomas

188
Q

what is the primary cause of Hirschsprung’s disease

A

absence of ganglionic plexus due to absence of caudal migration of vagal neural crest cells

189
Q

what is a characteristic associated with Hirschsprung’s disease

A

abnormal colonic dilation or distention (megacolon)

190
Q

what syndrome can be caused by Hirschsprung’s disease

A

Trisomy 21

191
Q

where did somatic support cells acquire their name from

A

coelomic epithelial cells

192
Q

what is the function of somatic support cells

A

support growth of PGCs

193
Q

what week does the embryo decide which gender it becomes

A

week 7

194
Q

what is the process of deciding the gender of the embryo called

A

sex determination

195
Q

what are the male PGCs called

A

sperm

196
Q

what are the female PGCs called

A

oocyte

197
Q

what type of cells contribute to the extraembryonic mesoderm

A

hypoblast cells

198
Q

What cells reside in the extraembryonic mesoderm

A

primordial germ cells

199
Q

What cells arise from the extraembryonic mesoderm

A

hematopoietic precursors

200
Q

what are somites

A

block-like condensations of paraxial mesoderm

201
Q

Where are somites derived from

A

paraxial mesoderm

202
Q

what process do the ventromedial part of somites undergo

A

epithelial to mesenchymal transition

203
Q

what does the sclerotome develop into

A

the vertebrate and ribs

204
Q

what are the 3 sclerotome layers

A

dorsal, lateral, ventral

205
Q

what is the ventral sclerotome

A

the rudiment of the vertebral body

206
Q

what is the lateral sclerotome

A

vertebral transverse process and ribs

207
Q

what is the dorsal sclerotome

A

rudiment of the vertebral arch and vertebral spine

208
Q

what is resegmentation

A

the caudal segment of each sclerotome fuses with the cranial segment of the slerotome immediately caudal to it to form a vertebra

209
Q

what is an intrasegmental boundary (von Ebner’s fissure)

A

intrasegmental boundary dividing the cranial and caudal portions of the sclerotome

210
Q

How many cervical vertebrate are produced by the resegmentation of 8 cervial somites

A

7 cervical vertebrates

211
Q

How many cervical spinal nerves are there, even though there are 7 cervical vertebrate

A

8 nerves

212
Q

what is the core of the fibrous intervertebral discs called

A

nucleus pulposus

213
Q

what cells form the nucleus pulposus

A

notochordal cells

214
Q

what is the periphery of the intervertebral discs called

A

annulus fibrosus

215
Q

what cells form the annulus fibrosus

A

sclerotomal cells

216
Q

How are myotome cells formed

A

the ventral part of the dermomyotome will undergo epithelial mesenchymal transition

217
Q

what do the dorsal cells of the myotome form

A

the epimere

218
Q

what do the lateral cells of the myotome form

A

hypomere

219
Q

what does the epimere form

A

epaxial muscles

220
Q

what is the epimere innervated by

A

dorsal ramus

221
Q

what does the hypomere form

A

hypaxial muscles

222
Q

what is the hypomere innervated by

A

ventral ramus

223
Q

what is the somatic mesoderm

A

inner lining of the body wall and to parts of the limbs

224
Q

what is the spanchnic mesoderm

A

mesothelial covering of visceral organs

225
Q

what is the cavity between the somatic and spanchnic mesoderm called

A

coelom

226
Q

what is a characteristic of prune belly syndrome

A

abdominal musculature absent or very hypoplastic

227
Q

what cells are involved in prune belly syndrome

A

cells of the hypomere

228
Q

what type of disease is Duchenne muscular dystrophy

A

x linked recessive

229
Q

what is the cause of duchenne muscular dystrophy

A

mutation in the DMD gene for dystrophin

230
Q

what is the consequence of a mutated DMD gene in those with duchenne muscular dystrophy

A

a mutation in the DMD gene destroys the ability of dystrophin to anchor actin to the extracellular matrix

231
Q

what is a medical consequence of duchenne muscular dystrophy

A

death as a result of cardiac or respiratory failure

232
Q

when is the periderm normally shed by

A

month 5

233
Q

what is the function of the basal layer of the epidermis

A

replenish the epidermis through stem cells

234
Q

what is another name for the basal layer of the epidermis

A

stratum germinativum

235
Q

what is the immediate layer of the epidermis replaced by in the 5th month

A

outer stratum corneum, middle stratum granulosum, and inner stratum spinosum

236
Q

in the transition from the basal to spinous layer, what keratins are switched

A

keratins from stratum germinativum (krt5, 14) to stratum spinosum (Krt 1,10)

237
Q

what envelope proteins are produced in the stratum granulosum

A

loricrin, envoplakin, and involucrin

238
Q

what enzyme crosslinks envelope proteins to cell membrane in the spinous to granular layer transition

A

transglutaminase 3

239
Q

what 2 components aggregate to form tight bundles in the transition from the spinous to granular layer

A

filaggrin aggregates with the keratin filaments

240
Q

compare thick skin versus thin skin

A

thick skin: covers palms of hands and soles of feet, lacks hair follicles, lacks arrector muscles of hairs, lacks sebaceous glands, has sweat glands
thin skin: covers most the rest of the body, contains hair follicles, contains arrector muscles of hairs, contains sebaceous glands, contains sweat glands

241
Q

what are the embryonic origins of the dermis

A

Trunk: somatic lateral plate mesoderm and dermomyotome
face and neck: neural crest cells (ectoderm)

242
Q

how many more blood vessels than needed does the skin of a neonate contain

A

20 times

243
Q

why do neonates have more blood vessels than needed in the skin

A

required for thermoregulation- keep warm

244
Q

what are melanocytes

A

specialized cells derived from neural crest cells

245
Q

when is the density of melanocytes the highest

A

during the fetal period

246
Q

what happens to the density of melanocytes after the fetal period until young adulthood

A

decreases

247
Q

what are merkel cells

A

pressure-detecting mechanoreceptors

248
Q

what do merkel cells arise from

A

epidermal cells

249
Q

what are langerhans cells

A

specialized immune surveillance cells that appear within the epidermis

250
Q

what happens to the density of langerhans cells with time

A

increases

251
Q

what is a characteristic of collodion babies

A

covered at birth by a thick, taut membrane resembling oiled parchment (collodion) which is subsequently shed

252
Q

what causes neonatal morbidity in collodion babies

A

cutaneous infection, aspiration pneumonia, hypernatremic dehydration

253
Q

what is ichthyosis

A

a group of cutaneous disorders characterized by increased or aberrant keratinization of the skin resulting in noninflammatory scaling, dryness, and cracks in skin

254
Q

what inheritance pattern does ichthyosis vulgaris follow

A

autosomal dominant

255
Q

what inheritance pattern does lamellar ichthyosis follow

A

autosomal dominant

256
Q

what inheritance pattern does epidermolytic hyperkeratosis follow

A

autosomal dominant

257
Q

what gene is mutated with ichthyosis vulgaris

A

gene encoding for filaggrin

258
Q

what gene is mutated with lamellar ichthyosis

A

gene encoding transglutaminase 1

259
Q

what gene is mutated with epidermolytic hyperkeratosis

A

gene encoding keratin 1 or keratin 10

260
Q

what inheritance pattern does harlequin fetus follow

A

autosomal recessive

261
Q

what gene is mutated in harlequin fetus

A

ABCA12 gene

262
Q

what does the ABCA12 gene encode for

A

adenosine triphosphate binding cassette transporter, which is a lipid transporter in keratinocytes

263
Q

what are the clinical features of harlequin fetus

A

most severe form of ichthyosis, many are stillborn or die shortly after birth

264
Q

what causes Junctional epidermolysis bullosa

A

mutation in the gene encoding laminin alpha 5 protein

265
Q

what is laminin alpha 5 protein a component of

A

hemidesmosomes

266
Q

what does junctional epidermolysis bullosa lead to

A

reduced or loss of adhesion of the stratum basale to the basement membrane

267
Q

what is the main clinical feature of junctional epidermolysis bullosa

A

widespread bulla (blister) formation where the epidermis is intact but is separated from the underlying dermis

268
Q

at the end of meiosis 1, two daughter cells are generated. what is their ploidy and n?

A

haploid, 2n

269
Q

at the end of meiosis 2, four daughter cells are produced. what is their ploidy and n?

A

haploid, 1n