Leg Pain Cases Flashcards

1
Q

what genetic mutation results in sickle cell anemia?

A

replacement of glutamic acid (hydrophilic) with valine (hydrophobic) in the Beta chain

chromosome 11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

sickle cell disease arises when two abnormal […] chains are present

A

beta

(results in >90% HbS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

HbS […] when deoxygenated, resulting in needle-like structures

A

polymerizes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

increased risk of sickling occurs with [3]

A

hypoxemia
dehydration
acidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Hb[…] protects against sickling

A

HbF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

high [….] at birth is protective against sickling for the first few months of life

A

HbF

(no need for hydroxyurea in newborns, consider PCN prophylaxis against capsular bacteria)

had an Amboss question that said PCN ppx for first five years of live

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

treatment of SCD with […] increases levels of HbF

A

hydroxyurea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

patients with SCD have a high risk of aplastic crisis with [….] infection

A

Parvovirus B19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

patients with SCD have an increased risk of […] osteomyelitis

A

salmonella paratyphii

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

autosplenectomy in patients with SCD will result in […] on blood smear

A

Howell-Jolly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what is the most common cause of death in children with SCD?

A

sepsis by encapsulated bacteria

(S. pneumo, H. flu)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is the most common cause of death in adults with SCD?

A

acute chest syndrome

(vaso-occlusion of pulmonary microcirculation; often precipitated by pneumonia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

one mutated and one normal B chain results in

A

sickle cell trait

(HbA and HbS on electrophoresis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

RBCs with less than 50% HbS do not sickle, EXCEPT for in the […]

A

renal medulla

(seen in sickle cell trait)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what would you expect to see on blood smear of a patient with SCD? [2]

A

sickle cells
target cells

(would not be seen in sickle cell trait)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

[…] screen causes cells with any amount of HbS to sickle
will be positive in both SCD and trait

A

metabisulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

massive […] hyperplasia in patients with SCD results in “crewcut” skull and “chipmunk facies”

A

erythroid

(extramedullary hematopoiesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

patients with SCD often present with […] due to vaso-occlusive infarcts in bones

A

dactylitis

(often first sign seen in infants0

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

does SCD present with extravascular hemolysis or intravascular hemolysis?

A

Both - but mostly extravascular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

how would you differentiate SCD from beta thalassemia?

A

beta thalassemia is microcytic, SCD is normocytic

electrophoresis would have HbA2 in beta thalassemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how would you differentiate SCD from hereditary spherocytosis?

A

cell shape

spherocytosis is diagnosed via osmotic fragility test (fragility in hypOtonic solution)

spherocytosis has high RDW and high MCHC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

how would you differentiate SCD from hereditary pyruvate kinase deficiency?

A

PKD presents in newborns with jaundice

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what are the adverse effects of hydroxyurea? [3]

A

myelosuppression
mastocytosis

darkening of skin/nail beds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Sickle cells lack elasticity and adhere to vascular endothelium, which disrupts microcirculation and causes vascular […] and subsequent tissue […]

A

occlusion

infarction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

painless gross hematuria in a patient with sickle cell trait may indicate

A

renal papillary necrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

inhibits xanthine oxidase, preventing the formation of uric acid

A

allopurinol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what type of crystals precipitate in gout?

A

monosodium urate

28
Q

in gout, crystals are […] shaped

A

needle

29
Q

in gout, crystals are […] birefringent

A

negatively

30
Q

in pseudogout, crystals are […] shaped

A

rhomboid

31
Q

in pseudogout, crystals are […] birefringent

A

weakly positive

32
Q

what type of crystals precipitate in pseudogout?

A

calcium pyrophosphate

33
Q

treatment of acute gout [3]

A

NSAIDs
colchicine
corticosteroids

34
Q

treatment of chronic gout [2]

A

allopurinol
febuxostat

35
Q

mechanism of action of colchicine

A

prevents microtubule assembly –> disrupts neutrophil chemotaxis

36
Q

mechanism of action of probenecid

A

URAT inhibitor

prevents reabsorption of uric acid from PCT –> increases excretion

37
Q

[…] syndrome is characterized by a hypercoaguable state antibodies such as anti-lipid coagulant and anti-cardiolipin

A

anti-phospholipid syndrome

38
Q

history red flags for anti-phospholipid syndrome in SLE

A

DVT
hepatic vein thrombosis
stroke
recurrent pregnancy loss

39
Q

what serum antibody is sensitive, but not specific for SLE?

A

ANA

40
Q

what serum antibodies are highly specific for SLE? [2]

A

Anti-dsDNA
anti-Sm

41
Q

deficiency of […] complement proteins is associated with SLE

A

early

C1q, C4, C2

42
Q

deficiency of early complement proteins in SLE causes decreased clearance of […]

A

immune complexes

43
Q

describe some characteristics of a classic presentation of SLE

A

female of reproductive age
facial rash
joint pain
fever
oral ulcers
photosensitivity

44
Q

what would you expect to see on skin biopsy in SLE?

A

-DEJ “smudging”
-holes in the basal layer “vacuolization”
-melanin dropout
-dead reds

45
Q

Mesangial and/or subendothelial deposition of immune complexes (C3 and C1q) → expansion and thickening of mesangium, capillary walls, and/or glomerular basement membrane

A

lupus nephritis

46
Q

most common nephritis syndrome associated with SLE

A

diffuse proliferative glomerulonephritis

aka lupus nephritis

47
Q

SLE is a type […] HSR

A

III

antigen-antibody complexes damage tissues

48
Q

MOA inhibits microtubule polymerization by binding to the cytoskeleton

A

colchine

(impairs phagocytosis, chemotaxis, and migration of neutrophils)

49
Q

side effects of colchicine

A

GI upset
myelosuppression
hair loss

50
Q

Sickle cell trait causes […] secondary to transient sickling of RBCs in the renal capillaries

A

renal papillary necrosis

51
Q

complications associated with sickle cell […] include recurrent urinary tract infections, chronic kidney disease, and renal medullary carcinoma

A

trait

52
Q

most common pathogen in SCD-associated osteomyelitis in the US/Europe

A

S. typhi

(S. aureus is most common in Africa/ME)

53
Q

Infarction of trabecular bone is characteristic of […]

A

avascular necrosis

(subchondral lucency secondary to microfractures, sclerosis, joint space narrowing on Xray)

54
Q

characterized by a moth-eaten appearance of the bones on x-ray

A

dactylitis

55
Q

Microhematuria and macrohematuria can occur in SCD due to sickling of RBCs in the […]

A

renal papilla

56
Q

Hydroxyurea inhibits ribonucleotide reductase, which inhibits DNA replication and causes cell cycle arrest during the […] phase.

A

S

57
Q

Hydroxyurea inhibits […], which inhibits DNA replication and causes cell cycle arrest during the S phase.

A

ribonucelotide reductase

58
Q

hydroxyurea can also be used to treat […] disorders due to inhibition of DNA synthesis

A

myeloproliferative

59
Q

mnemonic for remembering how far hemoglobin types travel on electrophoresis

A

A
Fat
Santa
Claus

(A travels the farthest, C travels the least)

60
Q

highly specific antibody markers for SLE [2]

A

Anti-Smith
anti-ds DNA (correlated to lupus nephritis)

61
Q

[…] is a nonspecific screening test for syphilis that detects anticardiolipin antibodies

A

rapid plasma reagin (RPR)

62
Q

patients with antiphospholipid syndrome will have false […] testing for infection with Treponema pallidum

A

positive

(due to anticardiolipin antibodies)

63
Q

Medications that can act as haptens (e.g., allopurinol, cephalosporins, penicillin) can precipitate a […] reaction

A

serum sickness like

64
Q

fever, rash on flexor surfaces with central clearing, arthralgia, and lymphadenopathy occuring 1-3 weeks after starting antibiotics

A

serum sickness like reaction

(vs erythema multiforme: rash has dark center, and starts on extensor surfaces like back of hands/top of feet)

65
Q

target lesions with dusky center on back of hands/feet

A

erythema multiforme

66
Q

erythema multiforme is a type […] HSR

A

IV

67
Q

decrease prostaglandin synthesis by reversibly inhibiting the enzymes COX-1 and COX-2

A

NSAIDs