Phase I

Question 1

What do you know about Kartagener Syndrome?

Answer 1

autosomal recessive; multiple mutations in dynein gene; “immotile cilia syndrome”; primary ciliary dyskinesia/situs inversus connection; sx = resp. infections, sperm/tube issues

Question 2

How does Colchicine work?

Answer 2

binds to tubulin to inhibit polymerization, prevents mitosis

Question 3

What does Colchicine treat?

Answer 3

Gout

Question 4

What are vinblastine/vincristine used for?

Answer 4

Antiproliferative drugs in cancer therapy

Question 5

How do vinblastine or vincristine work?

Answer 5

By inhibiting mitotic spindle

Question 6

What do you know about Paclitaxel?

Answer 6

stabilizes microtubules, prevents depolymerizing, in doing so arrests cancer cells in various stages of cell division, used as cancer therapy for breast cancer

Question 7

What are mallory bodies?

Answer 7

keratin intermediate filaments in hepatocytes, used in diagnosing liver cirrhosis

Question 8

What is hereditary spherocytosis?

Answer 8

A genetic hemolytic anemia characterized by spherical RBCs. Cause is spectrin/ankyrin/band 3 protein deficiency.

Question 9

In what layer of the skin do the superficial and deep plexuses (of vasculature) reside?

Answer 9

The dermis

Question 10

What is the cellular origin of squamous cell cancer?

Answer 10

Superficial layer of epidermis (keratinocytes)

Question 11

What is the cellular origin of melanoma?

Answer 11

Melanocytes

Question 12

What is the cellular origin of basal cell carcinoma?

Answer 12

Keratinocytes of the stratum basale

Question 13

What type of UV ray penetrates deeper in the skin than any other?

Answer 13

UVA rays (longer wavelengths)

Question 14

What is the cause of xeroderma pigmentosa, generally?

Answer 14

An inability to “undo” the results of UV damage

Question 15

What are some of the possible consequences of xeroderma pigmentosa?

Answer 15

Squamous cell cancer (pediatric onset, usually by age 8)

Question 16

What gene(s) is/are associated with melanoma?

Answer 16

BRAF and RAS

Question 17

What gene(s) is/are associated with basal cell cancer?

Answer 17

PTCH and SMO

Question 18

What gene(s) is/are associated with squamous cell carcinoma?

Answer 18

p53

Question 19

What type of skin cancer is associated with HPV?

Answer 19

Squamous cell carcinoma

Question 20

Which type of skin cancer can be treated by Vismodegib?

Answer 20

Basal cell carcinoma

Question 21

Which type of skin cancer is associated with neural crest cells?

Answer 21

Melanoma, because melanocytes have NCC origin (“acts differently,” i.e. metastasizes quickly for this reason)

Question 22

What (5) characteristics of a lesion are checked for in the diagnosis of melanoma?

Answer 22

ABCDE: Asymmetry, borders (irregular), color (multiple present), diameter (> 6 mm), evolution

Question 23

What is the most common type of melanoma?

Answer 23

Superficial spreading

Question 24

Which type of melanoma is associated with the poorest prognosis?

Answer 24

Nodular melanoma

Question 25

What blistering disease is associated with a keratin 5 and 14 gene defect?

Answer 25

Epidermolysis bullosa simplex (defect causes inability to properly form keratin intermediate filaments)

Question 26

What is the primary symptom of epidermolysis bullosa simplex?

Answer 26

Blistering ("all the time") at the basement membrane

Question 27

When is the usual onset of epidermolysis bullosa?

Answer 27

Children or teens

Question 28

Describe the cause of pemphigus vulgaris

Answer 28

Autoimmune (IgG antibody) attack against desmogleins (cadherin proteins of desmosomes) in stratum spinosum. As a result, keratinocytes cannot attach to one another

Question 29

What are some of the symptoms of pemphigus vulgaris?

Answer 29

NO blisters! Instead, "crusty" plaques and ulcers in scalp, throat and groin ("skin falls apart")

Question 30

What medication is used to treat pemphigus vulgaris?

Answer 30

Prednisone

Question 31

Which "blistering" skin disease is associated with autoantobodies against DSG 1 and 3?

Answer 31

Pemphigus vulgaris

Question 32

Which "blistering" skin disease is associated with acantholysis of the intra-epidermal cleft?

Answer 32

Pemphigus vulgaris (acantholysis = loss of intercellular connections)

Question 33

Which "blistering" skin disease has a "net-like appearance" on immunofluorescence?

Answer 33

Pemphigus vulgaris

Question 34

Describe the cause of bullous pemphigoid

Answer 34

Antibody attack on BPAG1 or BPAG2. Resulting issues with hemidesmosomes split the underneath basal cell.

Question 35

Which "blistering" skin disease has a linear appearance at the derma-epidermal junction on immunofluorescence?

Answer 35

Bullous pemphigoid

Question 36

What are the symptoms and cause of dystrophic epidermolysis bullosa?

Answer 36

Caused by a genetic collagen VII defect (can't produce it), symptoms include blisters deep in dermis from birth and chronic scarring (patients often die of infection and skin cancer as there is no treatment)

Question 37

What is Nikolsky's sign?

Answer 37

Epidermis separates when you manually stroke the skin

Question 38

What type of connective tissue is in mesentery?

Answer 38

Loose connective tissue

Question 39

Describe the cause and symptoms of Gaucher disease

Answer 39

Multisystem lipidosis (most common lysosomal storage disease) caused by deficiency of lysosomal hydrolase (and glucocerebrosidase), manifested in bone pains, fractures and organomegaly

Question 40

Describe the cause and symptoms of Zellweger syndrome

Answer 40

Peroxisome disease d/t failure of peroxisomes to incorporate enzymes b/c they do not possess membrane receptors. Results in failure to perform beta fatty acid degradation, dysmorphic faces, progressive degeneration of brain, liver, and kidney, death in 6 mo

Question 41

Describe the cause and symptoms of Tay Sach disease

Answer 41

Failure to degrade gangliosides, caused by hexosaminidase A deficiency, results in cherry red spot in retina, increased susceptibility to startling, macular pallor, loss of motor skills, decreased eye contact, development of idiocy and blindness