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Step1 > Repro embryology > Flashcards

Repro embryology Flashcards

1
Q

Sonic hedgehog gene

A

patterning along the anteroposterior axis and CNS development

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2
Q

Mutation in the sonic hedgehog gene can result in

A

holoprosencephaly - failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects.

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3
Q

Wnt-7 gene

A

produced at apical ectodermal ridge

important for dorsal-ventral axis organization

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4
Q

Fibroblast growth factor (FGF) gene

A

produced at apical ectodermal ridge

stimulates mitosis of underlying mesoderm –> lengthening of limb

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5
Q

Homeobox (HOX) genes

A

involved in segmental organization of embryo in a craniocaudal direction

code for transcription factors

HOX mutations –> appendages in wrong locations

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6
Q

ovulation secretes

A

secondary oocyte

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7
Q

When does hCG secretion begin and implantation of blastocyst

A

hCG secretion begins and implantation of blastocyst
Within week 1 development
think blastoSIX –> day 6

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8
Q

When does the fetus develop bilaminar disc of epiblast and hypoblast

A

Week 2 development ( weeks = 2 layers)

bilaminar disc of epiblast and hypoblast

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9
Q

when does the epiblast invaginate to form the primitive streak and results in endoderm, mesoderm, ectoderm

A

Week 3 development

3 weeks= 3 layers

gastrulation forms trilaminar embryonic disc

epiblast invaginate to form the primitive streak and results in endoderm, mesoderm, ectoderm

notochord arises from midline mesoderm

overlying ectoderm becomes neural plate

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10
Q

when is the fetus extremely susceptible to teratogens

A

weeks 3-8 (embryonic period) development

EXTREMELY susceptible to teratogens because this is when neural tube is formed by neuroectoderm and closes by week 4. Also have organogenesis

before week 3 its an all or none effect

after week 6 its a growth and function affect

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11
Q

Heart beats and limb buds form

A

Week 4

4 weeks=4 limbs and 4 heart chambers

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12
Q

fetal cardiac activity visible on tranvaginal ultrasound

A

Week 6

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13
Q

Fetal movement starts at

A

week 8

8 is GAIT

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14
Q

Genitalia develop male or female characterisitics

A

Tenitalia

week 10

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15
Q

craniopharyngioma

A

benign rathke pouch tumor with cholesterol crystals, calcifications

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16
Q

Embryonic derivatives of the surface ectoderm

A 
epidermis
adenohypophysis from Rathke pouch
lens of eye
epithelial linings of oral cavity
sensory organ of ear
olfactor epithelium
anal canal below the pectinate line
parotid
sweat
mammary glands
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17
Q

Embryonic derivatives of the neural tube

A

Brain
Retina
Spinal cord

neuroectoderm –> think CNS
neural plate –> nucleus pulpulsos

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18
Q

Embryonic derivatives of the Neural crest

A 
Melanocytes
Myenteric (Aurbach)plexus
Odontoblasts
Endocardial cushions
Laryngeal cartilage
Parafollicular cells of thyroid
PNS
Adrenal medlla and all ganglia
Spiral membrane
Schwann cells
Pia and arachnoid
bones of skull

“PNS and non neural structure nearby”

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19
Q

Embryonic derivatives of the mesoderm

A 
Muscle
Bone
CT
Serous linings of body cavities
spleen
cardiovascular structures
lymphatics
blood
wall of gut tube
upper vagina
kidneys
adrenal cortex
dermis
testes
ovaries
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20
Q

Mesodermal defects

A

VACTERL

Vertebral defects
Anal atresia
Cardiac defects
Tracheo esophageal fistula
Renal defects
Limb defects
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21
Q

Embryonic derivatives of the endoderm

A

gut tube epithelium
anal canal above the pectinate line epithelium
most of urethra and lower vagina
luminal epithelia derivatives

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22
Q

aplasia vs agenesis

A

agenesis is absent organ due to absent primordial tissue

aplasia is absent organ despite presence of primordial tissue

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23
Q

deformation vs malformation

A

deformation is extrinsic disruption that occurs after embryonic period

malformation is intrinsic disruption that occurs during embryonic period (weeks 3-8)

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24
Q

sequence error

A

abnormalities result from a single primary embryologic event

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25
Q

Teratogen medications: ACEi

A

renal damage

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26
Q

Teratogen medications: Alkylating agents

A

absence of digits, multiple anomalies

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27
Q

Teratogen medications: aminoglycosides

A

ototoxicity

“a mean ol’ guy hit baby in the ear”

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28
Q

Teratogen medications: antiepileptic drugs

A

neural tube defects
cardiac defects
cleft palate
skeletal abnormalities

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29
Q

Teratogen medications: Diethylstilbestrol

A

vaginal clear cell adenocarcinoma

congenital mullerian anomalies

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30
Q

Teratogen medications: folate antagonists

A

neural tube defects

trimethoprim
Methotrexate

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31
Q

Teratogen medications: Isotretinoin

A

multiple severe birth defects

contraception mandatory

think isoTERATinion

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32
Q

Teratogen medications: Lithium

A

ebstein anomaly (apical displacement of tricuspid valve)

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33
Q

Teratogen medications: Methimazole

A

aplasia cutis congenita

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34
Q

Teratogen medications:Tetracyclines

A

discolored teeth
inhibited bone growth

Teethracyclines

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35
Q

Teratogen medications: Thalidomide

A

limb defects

tha-limb-domide

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36
Q

Teratogen medications: warfarin

A

bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities

do not wage war on the baby. Keep it heppy with herparin because it does not cross the placenta

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37
Q

Teratogen: maternal diabetes

A

caudal regression syndrome (anal atresia to sirenomelia)

congenital heart defects
Neral tube defects
macrosomia
neonatal hypoglycemia
Polycythemia
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38
Q

Teratogen: vitamin A excess

A

extremely high risk for spontaneous abortions and birth defects like cleft palate and cardiac

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39
Q

Baby has a smooth philtrum, thin vermillion border (upper lip), small palpebral fissures, limb dislocation, heart defects

A

Fetal alcohol syndrome

can also have microcephaly

if very severe: heart lung fistulas and holoprosencephaly in most severe form

mechanism? failure of cell migration

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40
Q

Neonatal abstinence syndrome

A

complex disorder involving CNS, ANS, GI systems

Secondary to maternal opiate use/abuse

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41
Q

dizygotic twins

A

arise from a separate egg and sperm
dichorionic
diamniotic

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42
Q

Monozygotic twins

A

1 egg and 1 sperm

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43
Q

Monozygotic twin’s chorionicity and amnionicity depends on time of cleavage

A

0-4 days: dichorionic and diamniotic
4-8 days: monochorionic and diamniotic
8-12 days: monochorionic and monoamniotic
13+ days: shared body (conjoined) and monochorionic, monoamniotic

44
Q

fetal component of the placenta

A

cytotrophoblast (inner) –> makes cells

syncytiotrophoblast (outer) –> synthesizes hormones

45
Q

lack of ____ expression in fetal placenta decreases the chance of attack by maternal immune system

A

MHC-I

46
Q

hCG from the syncytiotrophoblast

A

stimulates the corpus luteum to secrete progesterone during first trimester

47
Q

Maternal component of the placenta

A

decidua basalis which is derived from endometrium

maternal blood in lacunae

48
Q

most common type of monozygotic twins? second most?

A

most common is monochorionic diamniotic

second most common is dichorionic and diamniotic

49
Q

components of the umbilical cord

A

2 umbilical arteries

1 umbilical vein

50
Q

role of umbilical arteries and veins

A

arteries return deoxy blood from fetal internal iliac arteries to placenta

veins supply oxygenated blood from placenta to fetus and drains into IVC via liver or via ductus venosus

51
Q

umbilical arteries and veins are derived from

A

allantois

52
Q

Yolk sac forms the _____ in the 3rd week

A

allantois

which extends into urogenital sinus

53
Q

The allantois becomes the ______, a duct between fetal bladder and umbilicus

A

urachus

54
Q

obliterated urachus is the

A

median umbilical ligament

55
Q

patent urachus

A

urine discharge from umbilicus

56
Q

urachal cyst

A

partial failure in obliteration of urachus

fluid filled cavity lined with uroepithelium between umbilicus and bladder

can become infected and present as painful mass below umbilicus

57
Q

Vesicourachal diverticulum

A

slight failure of urachus to obliterate

outpouching of bladder

58
Q

vitelline duct connects the ____ to the ____. It is obliterated in the ____ week

A

yolk sac to the midgut lumen

7th

59
Q

vitelline fistula

A

vitelline duct fails to close and meconium discharge from ubilicus

60
Q

Meckel diverticulum

A

partial closure of vitelline duct

patent portion attached to ileum (true diverticulum)

can get melena, hematochezia, abdominal pain

61
Q

aortic arch derivatives : 1st

A

1 is maximal

maxillary artery

62
Q

aortic arch derivatives : 2nd

A

stapedial artery
hyoid artery

2 arteries

63
Q

aortic arch derivatives : 3rd

A

common carotid artery
internal carotid artery

C is the 3rd letter of alphabet

64
Q

aortic arch derivatives : 4th

A

left: aortic arch
Right: proximal R. subclavian artery

65
Q

aortic arch derivatives : 5th

A 
proximal part of pulm arteries
ductus arteriosus (left)
66
Q

____ nerve loops around the R. subclavian artery

A

right recurrent laryngeal nerve

67
Q

_____ nerve loops around aortic arch distal to the ductus arteriousus

A

left recurrent laryngeal nerve

68
Q

Branchial apparatus

A

CAP

Branchial cleft –> ectoderm
Branchial arches –> mesoderm and neural crest
Branchial Pouches –> endoderm

69
Q

Branchial cleft derivatives

A

1st cleft: EAM

2nd-4th: temporal cervical sinuses

70
Q

persistent cervical sinuses

A

normally obliterated by proliferation of 2nd arch mesenchyme

branchial cleft cyst within lateral neck, anterior to sternocleidomastoid muscle

71
Q

Branchial arch derivatives: 1st branchial arch

A

Cartilage: maxilla, zygomatic, meckel cartilage, mandible, malleus, incus, sphenomandibular ligament

mm: muscles of mastication(temporalis, masseter, lateral and medial pterygoids), mylohyoid, anterior belly of digastric, tensor tympani, anterior 2/3 of tongue, tensor veli palatini

CN V3

“chewing”

72
Q

Branchial arch derivatives: 2nd branchial arch

A

cartilage: reichert cartilage, stapes, styloid process, lesser horn of hyoid, stylohyoid ligament
mm: muscles of facial expression, stapedius, stylohyoid, platysma, posterior belly of digastric

CN7

“smile”

73
Q

Pierre robin sequence

A

micrognathia, glossoptosis, cleft palate, airway obstruction

Branchial arches 1 and 2

74
Q

Treacher collins syndrome

A

neural crest dysfunction causing mandibular hypoplasia and facial abnormalities

branchial arches 1 and 2

75
Q

Branchial arch derivatives: 3rd

A

cartilage: greater horn of hyoid
mm: stylopharyngeus

CN 9 (glossopharyngeal)
"swallow"
76
Q

Branchial arch derivatives: 4th-6th

A

Cartilage: arytenoids, cricoid, corniculate, cuneiform, thyroid

Muscles: 4th arch is most pharyngeal constrictors, cricothyroid, levator veli palatini
6th arch: all intrinsic muscles of larynx except cricothyroid

arch 3 and 4 make the posterior 1/3 of tongue

arch 5 makes no major developmental contributions

CN X (superior laryngeal branch) for 4th arch
“swallow”
CN X (recurrent/inferior laryngeal branch) for 6th arch
“speak”

77
Q

CNs for branchial arches mnemonic

A

children tend to first CHEW, then SMILE, then SWALLOW STYLishly, or simply SWALLOW, and then SPEAK

78
Q

Branchial pouch derivatives: 1st

A

middle ear cavity
eustachian tube
mastoid air cells

endoderm lined structures of the ear

79
Q

Branchial pouch derivatives 2nd

A

epithelial lining of palatine tonsil

80
Q

Branchial pouch derivatives 3rd

A

dorsal wings –> inferior parathyroids
ventral wings –> thymus

ends up below 4th pouch structures

81
Q

Branchial pouch derivatives 4th

A

Dorsal wings –> superior parathyroids

Ventral wings –> ultimobranchial body and parafollicular (C) cells of thyroid

82
Q

mnemonic for Branchial pouch derivatives

A

Ear, tonsils, bottom to top

1 ear
2 tonsils
3 bottom for inf parathyroids (dorsal)
3 to =thymus (ventral)
4 top (superior parathyroids)
83
Q

what pouches are problematic in digeorge

A

3rd and 4th puches

3rd ventral = thymus
3rd dorsal and 4 = parathyroids

t cell deficiency due to thymic aplasia and hypocalcemia due to failure of parathyroid development

84
Q

What is the developmental defect in cleft lip

A

failure of fusion of the maxillary and merged medial nasal processes

85
Q

What is the developmental defect in cleft palate

A

failure of fusion of the two lateral palatine shelves or failure of fusion of lateral palatine shelves with the nasal septum and/or median palatine shelf (formation of secondary palate)

86
Q

female genital embryology: the mesonephric duct ____ and the ___ duct develops

A

degenerates

paramesonephric duct

87
Q

the SRY gene on Y chromosome produces

A

testis determining factor

88
Q

sertoli cells secrete ____ that suppresses the development of the ___ ducts

A

mullerian inhibitory factor (MIF)

paramesonephric duct

male development

89
Q

leydig cells secrete androgens that stimualte the development of _____ ducts

A

mesonephric ducts

male development

90
Q

Paramesonephric (mullerian) duct

A

develops into female internal structures : fallopian tubes, uterus, upper portion of vagina (lower portion is from the urogenital sinus)

male remnant: appendix testes

91
Q

Mesonephric (wolffian) duct

A

develops into male internal structures except the prostate : seminal vesicles, epididymis, ejaculatory duct, ductus deferens

female remnant is gartner duct

92
Q

Mullerian agenesis (MAyer Rokitansky Kuster Hauser syndrome)

A

primary amenorrhea (due to lack of uterine development in females) with fully developed secondary sexual characteristics (functional ovaries)

93
Q

What if after the undifferentiated gonads have been exposed to the testis determining factor (due to SRY gene) , they lack sertoli cells and mor mullerian inhibitory factor?

A

develop male and female internal genitalia

male external genitalia

SRY gene has already made the testes but without sertoli cells/MIF we cannot inhibit paramesonephric mullerian duct development into internal female genitalia

94
Q

What if after external genitalia has been differentiated into testes, there is a 5alpha reductase deficiency

A

inability to convert testosterone into DHT

male internal genitalia

but ambiguous external genitalia until puberty when the testosterone levels cause masculinization

95
Q

leydig cells

A

leydig cells LEAD to male internal and external sexual differentiation

96
Q

Sertoli cells

A

sertoli cells SHUT down female (internal) sexual differentiation

97
Q

incomplete fusion of the mullerian ducts

A

bicornuate uterus

98
Q

incomplete resorption of septum

A

septate uterus

99
Q

complete failure of mullerian duct fusion

A

uterus didelphys

double uterus, cervix, vagina

pregnancy possible

100
Q

Genital tubercle male and female homolog

A

male: via dihydrotestosterone form the glans penis, corpus cavernosum and spongiosum
female: via estrogen form glans clitoris and vestibular bulbs

101
Q

Urogenital sinus male and female homolog

A

male: via dihydrotestosterone forms bulbourethral glands of cowper and the prostate gland
female: via estrogen forms the greater vestibular glands of bartholin and the urethral and paraurethral glands of skene

102
Q

Urogenital folds male and female homolog

A

male: via dihydrotestosterone forms ventral shaft of penis (penile urethra)
female: via estrogen forms labia minora

103
Q

Labioscrotal swelling male and female homolog

A

male: via dihydrotestosterone forms scrotum
female: via estrogen forms labia majora

104
Q

Penile abnormality due to failure of urethral folds to fuse

A

hypospadias - abnormal opening of penile urethra on ventral surface

associated with inguinal hernia and cryptorchidism

more common than epispadias

105
Q

penile abnormalities due to faulty positioning of genital tubercle

A

epispadias- abnormal opening of penile urethra on dorsal surface of penis

associated with exstrophy of bladder

106
Q

Gubernaculum

A

male remnant: anchors tests within scrotum

female remnant: ovarian ligament + round ligament of uterus

107
Q

Processus vainalis

A

male remnant: forms tunica vaginalis

female remnant: obliterated

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