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3/24 - UW 22 Flashcards

1
Q

What is the genetic abnormality and inheritance of Lynch syndrome?

A

AD abnormal nucleotide mismatch repair

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2
Q

Mutations in what two genes lead to 90% of Lynch syndrome cases?

A

MSH2 and MLH1

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3
Q

What type of TB infx is indicated by hemoptysis, weight loss, and upper lobe cavitary lesion?

A

Secondary (reactivation) TB infx

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4
Q

Where does a primary TB infx tend to present?

A

Focal lesions in the mid to lower lungs (Ghon focus)

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5
Q

In TB, what is a Ghon complex? A Ranke complex?

A

Ghon: walled off focus formed during primary TB in the mid/lower lungs, can reinfect

Ranke complex: Benign, calcified lesion, cannot reinfect

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6
Q

In addition to a sweat chloride test, what other test can be used to diagnose CF? How does it work?

A

Nasal transepithelial potential measures the negative epithelial surface charge of CF patients, due to decreased Cl- secretion by CFTR channel, leading to increased Na+ absorption

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7
Q

What neoplasm presents with necrolytic migratory erythema, DM, and anemia?

A

Glucagonoma

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8
Q

Deficiency of what mineral leads to erythematous skin lesions, hypogonadism, azoospermia, hair loss, impaired taste, night blindness, and impaired wound healing?

A

Zinc

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9
Q

What molecules to integrins interact with in cellular adhesion?

A

Fibronectins, collagen, laminin

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10
Q

What neoplasms present with von Hippel-Lindau disease?

A
  1. Cerebellar hemangioblastomas
  2. Clear cell renal carcinomas
  3. Pheochromocytomas
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11
Q

What chromosome is associated with VHL?

A

Chromosome 3

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12
Q

Where does rT3 come from?

A

Inactive thyroid hormone generated by conversion from T4

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13
Q

What is dry Age-related Macular Degeneration (dry AMD)?

A

Subretinal drusen (yellow/white) deposits or pigment changes, causing gradual vision loss in one or both eyes. Tx with antioxidants and Zn

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14
Q

What is wet Age-related Macular Degeneration (wet AMD)?

A

Abnormal blood vessels (neovascularization) with subretinal fluid/hemorrhage or gray membrane. It’s more common than dry AMD, acute vision loss in days to weeks. Tx with anti-VEGF

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15
Q

What factor causes retinal neovascularization in wet AMD?

A

VEGF

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16
Q

What cofactor is required by phenylalanine hydroxylase?

A

BH4

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17
Q

What bacteria has polar granules that stain with aniline dyes? (like methylene blue)

A

Corynebacterium diphtheriae

18
Q

What cause of mental retardation shows CGG repeats?

A

Fragile X syndrome

19
Q

What is a normal number of CGG repeats on the X chromoxomal FMR1 gene?

A

5-55

20
Q

How many FMR-1 CGG repeats are in individuals with “full mutation” Fragile X syndrome?

A

200+

21
Q

Hypermethylation of the FMR1 gene is seen in what disease?

A

Fragile X syndrome

22
Q

Golden yellow or brown cytoplasmic granules could be what?

A

Lipfuscin or hemosiderin

23
Q

What is Prussian blue stain?

A

Detects intracellular iron

24
Q

What stain differentiates between two possible types of yellow/brown cytoplasmic granules?

A

Prussian blue stain for intracellular iron

25
Q

What pathology is associated with hemosiderin laden macrophages in alveoli?

A

Left sided heart failure

26
Q

What nerve mediates the gag reflex?

A

Glossopharyngeal

27
Q

Painless lesions progressing to painful inguinal LAD and ulceration = ???

A

Chlamydia (serotypes L1-3) causing Lymphogranuloma Venereum

28
Q

What second messenger system does Insulin use?

A

Tyrosine kinase

29
Q

What second messenger system does PDGF use?

A

Tyrosine kinase

30
Q

What second messenger system does sildenafil use?

A

cGMP

31
Q

What second messenger system does NO use?

A

cGMP

32
Q

How does Leptin decrease food intake?

A

In the arcuate nucleus of the hypothalamus:

  1. Decrease production of appetite stimulate, neuropeptide Y
  2. Increase production of proopiomelanocortin (POMC), which forms alpha-MSH, which inhibits feeding
33
Q

What combination of angina medications must be closely monitored for combined bradycardia and hypotention?

A

Beta blocker and non-DHP CCB

34
Q

How to differentiate between PSGN and IgA nephropathy?

A

Hematuria post infection…
days ago = IgA nephropathy
weeks ago = PSGN

35
Q

When giving glucose to alcoholics, supplement with what?

A

Thiamine

36
Q

What type of inguinal hernia is more common old men?

A

Direct

37
Q

What type of inguinal hernia is more common in male infants?

A

Indirect

38
Q

What type of groin hernia is more common in women?

A

Femoral

39
Q

What makes an H. influenzae strain “nontypable”?

A

No capsule

40
Q

What type of H. influenzae can be vaccinated against?

A

type b

41
Q

Sympathetic innervation of what two organs differ from the typical NE post-ganglionic release?

A

Sweat glands: ACh-M

Adrenals: ACh-N

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