Foundations

Question 1

What structures come from neural crest?

Answer 1

Melanocytes, aorticopulmonary septum, ganglia (autonomic, dorsal root, enteric), iris stroma, chromaffin cells, cranial nerves, odontoblasts/ossicles, parafollicular (C) cells, sclerae (MAGIC COPS)

Question 2

What structures develop from the neural tube? (from neuroectoderm)

Answer 2

CNS (neurons, oligodendrocytes, astrocytes, ependymal cells), pineal gland, posterior pituitary, retina

Question 3

What structures come from surface ectoderm?

Answer 3

lens, olfactory epithelium, inner ear, anterior pituitary, oral epithelium, parotid glands, enamel of teeth, epidermis, sweat glands, mammary glands, distal anal canal

Question 4

What structures develop from mesoderm?

Answer 4

muscle, bone, bone marrow, blood cells, heart, blood vessels, lymphatics, upper vagina, kidneys, adrenal cortex, gonads, dermis

Question 5

What structures develop from endoderm?

Answer 5

GI tract, submandibular glands, sublingual glands, liver, gallbladder, pancreas, lungs, thymus, thyroid follicular cells, lower vagina, bladder epithelium, urethral epithelium

Question 6

What does the epiblast give rise to?

Answer 6

All three germ layers: ectoderm, mesoderm, endoderm

Question 7

What does the hypoblast give rise to?

Answer 7

endoderm

Question 8

What happens in weeks 3-8 of embryonic development

Answer 8

embryonic period -> organogenesis

most susceptible to teratogens

Question 9

What happens in week 4 of embryonic development?

Answer 9

4 chamber heart, 4 limb buds

Question 10

What happens in week 8 of embryonic development?

Answer 10

fetal movement (eight/gait)

Question 11

What happens in week 10 of embryonic development?

Answer 11

sex-specific genitalia (puberty @ age 10)

Question 12

What is the relationship between the notochord, the neural crest, the neural plate, and the neural tube?

Answer 12

The notochord is formed from mesoderm, which induces ectoderm to form the neural plate.
Edges of the neural plate fold up and form the neural tube (becomes brain and spinal cord)
Pieces bud off and surround the neural tube, called the neural crest

Question 13

What are the characteristics of fetal alcohol syndrome?

Answer 13

facial abnormalities (narrow eye openings, wide-set eyes, smooth philtrum, thin upper lip, cleft palate)
intellectual disability
microcephaly
holoprosencephaly

Question 14

2 things that allow progression from G1->S

Answer 14

CDK4-cyclin D

CDK2-cyclin E

Question 15

2 things that allows progression from G2->M

Answer 15

CDK2-cyclin A

CDK1-cyclin B

Question 16

What is I cell disease?

Answer 16

Deficiency in mannose phosphorylation
No mannose-6-phosphate to target lysosomal proteins -> secretion out of cell instead of into lysosomes
Death by age 8
Corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement
May have intellectual disability

Question 17

What must be present on a protein in order for that protein to gain entry into the nucleus?

Answer 17

nuclear localization signals

PALS -> proline, arginine, lysine

Question 18

What intermediate filament is part of epithelial cells?

In what cancer does it stain?

Answer 18

cytokeratin; carcinoma

Question 19

What intermediate filament is part of muscle cells?

In what cancer does it stain?

Answer 19

desmin; rhabdomyosarcoma, leiomyosarcoma

Question 20

What intermediate filament is part of astrocytes and Schwann cells? In what cancer does it stain?

Answer 20

glial fibrillary acid proteins (GFAP); glioblastoma

Question 21

What intermediate filament is part of axons within neurons? In what cancer does it stain?

Answer 21

neurofilaments; neuroblastoma

Question 22

What intermediate filament is part of the nuclear envelope and DNA within?

Answer 22

Nuclear lamins

Question 23

What intermediate filament is part of connective tissue (fibroblasts, leukocytes, endothelium)? In what cancer does it stain?

Answer 23

Vimentin; sarcomas

Question 24

What drugs act on microtubules?

Answer 24

1. Vinka alkaloids -> vincristine and vinblastine (block polymerization of microtubules)
2. Taxans -> Paclitaxel, Docetaxel (stabilize the microtubules)
3. Colchicine
4. Griseofulvin
5. Benzimidazoles -> mebendazole, albendazole, thiabendazole

Question 25

What are the defects seen in Kartagener Syndrome?

Answer 25

chronic sinusitis, broncheiectasis, situs inversus | Part of primary ciliary dyskinesia -> Immotile cilia due to dynein arm defect; also have infertility

Question 26

What are the effects of thromboxane A2?

Answer 26

increased platelet aggregation | increased vascular tone

Question 27

What are the effects of prostaglandins?

Answer 27

increased uterine tone (PGE2, PGF2alpha) | decreased vascular tone (PGE1)

Question 28

What are the effects of PGI2?

Answer 28

decreased platelet aggregation decreased vascular tone decreased uterine tone

Question 29

What are the effects of leukotrienes? What inhibits them?

Answer 29

neutrophil chemotaxis increased bronchial tone (LTC4, LTD4, LTE4) Inhibited by Zafirlukast, Montelukast

Question 30

Where are collagens types I, II, III, and IV found?

Answer 30

type I - bones, skin, dentin, scar tissue type II - cartilage, vitreous body, nucleus pulposus type III - blood vessels, skin, uterus, embryonic/fetal tissue, granulation tissue, reticular fibers type IV - basement membrane (strong, slippery, stretchy, BM)

Question 31

Osteogenesis imperfecta type 1

Answer 31

``` Most common Autosomal Dominant insufficient amounts of normal type 1 collage or slightly abnormal type 1 collagen Multiple fractures, limb deformities Blue sclerae hearing loss dental abnormalities usually due to COL1A1 and COL1A2 defects ```

Question 32

Osteogenesis imperfecta type 2

Answer 32

Autosomal Dominant | death in utero or in the neonatal period

Question 33

Classic Ehlers-Danlos

Answer 33

affects mainly type V collagen and type I collagen defects in COL5A1 and COL5A2 hyper extensible skin and joint hypermobility

Question 34

Hypermobility Ehlers-Danlos

Answer 34

Most common | Joint hypermobility without hyper extensible skin

Question 35

Vascular Ehlers-Danlos

Answer 35

defect int he synthesis of Type III collagen | arterial rupture, hemorrhages, easy bruising, intracranial aneurysms (berry and aortic)

Question 36

Alport Syndrome

Answer 36

``` defect of type IV collagen nephritis and kidney failure hearing loss eye problems (cataracts, lenticonus) Can't see, Can't pee, Can't hear a high C ```

Question 37

Marfan Syndrome

Answer 37

defect in fibrillan (component of elastin) hyperplastic joints, disorders of the heart valves and aorta, tall stature, long arms and legs; long fingers (arachnodactyly), precuts carinatum (anterior protrusion of sternum)

Question 38

alpha 1 antitrypsin deficiency

Answer 38

defective alpha1-antitrypsin -> reduced inhibition of elastase -> increased degradation of elastin destruction of elastin in alveoli -> panacinar emphysema accumulation of alpha1-antitrypsin in hepatocytes -> hepatitis, cirrhosis, hepatocellular carcinoma **See emphysema in a nonsmoker -> think of this (esp in young people)

Question 39

Which amino acids are found in large concentrations in collagen? In elastin?

Answer 39

Collagen - hydroxyproline, proline, glycine | Elastin - glycin & proline

Question 40

What is the role of vitamin C in collagen production?

Answer 40

vita helps with hydroxylation of lysin and proline | Lack = scurvy -> poor wound healing, swollen gums, bleeding gums, anemia