Phase I Flashcards

1
Q

What do you know about Kartagener Syndrome?

A

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

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2
Q

How does Colchicine work?

A

binds to tubulin to inhibit polymerization, prevents mitosis

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3
Q

What does Colchicine treat?

A

Gout

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4
Q

What are vinblastine/vincristine used for?

A

Antiproliferative drugs in cancer therapy

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5
Q

How do vinblastine or vincristine work?

A

By inhibiting mitotic spindle

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6
Q

What do you know about Paclitaxel?

A

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

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7
Q

What are mallory bodies?

A

keratin intermediate filaments in hepatocytes, used in diagnosing liver cirrhosis

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8
Q

What is hereditary spherocytosis?

A

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

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9
Q

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

A

The dermis

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10
Q

What is the cellular origin of squamous cell cancer?

A

Superficial layer of epidermis (keratinocytes)

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11
Q

What is the cellular origin of melanoma?

A

Melanocytes

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12
Q

What is the cellular origin of basal cell carcinoma?

A

Keratinocytes of the stratum basale

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13
Q

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

A

UVA rays (longer wavelengths)

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14
Q

What is the cause of xeroderma pigmentosa, generally?

A

An inability to “undo” the results of UV damage

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15
Q

What are some of the possible consequences of xeroderma pigmentosa?

A

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

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16
Q

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

A

BRAF and RAS

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17
Q

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

A

PTCH and SMO

18
Q

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

A

p53

19
Q

What type of skin cancer is associated with HPV?

A

Squamous cell carcinoma

20
Q

Which type of skin cancer can be treated by Vismodegib?

A

Basal cell carcinoma

21
Q

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

A

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

22
Q

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

A

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

23
Q

What is the most common type of melanoma?

A

Superficial spreading

24
Q

Which type of melanoma is associated with the poorest prognosis?

A

Nodular melanoma

25
Q

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

A

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

26
Q

What is the primary symptom of epidermolysis bullosa simplex?

A

Blistering (“all the time”) at the basement membrane

27
Q

When is the usual onset of epidermolysis bullosa?

A

Children or teens

28
Q

Describe the cause of pemphigus vulgaris

A

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

29
Q

What are some of the symptoms of pemphigus vulgaris?

A

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

30
Q

What medication is used to treat pemphigus vulgaris?

A

Prednisone

31
Q

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

A

Pemphigus vulgaris

32
Q

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

A

Pemphigus vulgaris (acantholysis = loss of intercellular connections)

33
Q

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

A

Pemphigus vulgaris

34
Q

Describe the cause of bullous pemphigoid

A

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

35
Q

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

A

Bullous pemphigoid

36
Q

What are the symptoms and cause of dystrophic epidermolysis bullosa?

A

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)

37
Q

What is Nikolsky’s sign?

A

Epidermis separates when you manually stroke the skin

38
Q

What type of connective tissue is in mesentery?

A

Loose connective tissue

39
Q

Describe the cause and symptoms of Gaucher disease

A

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

40
Q

Describe the cause and symptoms of Zellweger syndrome

A

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

41
Q

Describe the cause and symptoms of Tay Sach disease

A

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