Mon jul 27 Flashcards

1
Q

speed of hemoglobin movement on gel electrophoresis?

A

hemoglobin A> hemoglobin S> hemoglobin C

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2
Q

what is the normal form of hemoglobin?

A

HbA

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3
Q

what mutation occurs in sickle cell anemia?

A

glutamate (neg charge) on the beta chain is replaced with valine (nonpolar)

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4
Q

what mutation occurs in hemoglobin C?

A

glutamate is replaced with lysine (pos charge)

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5
Q

what types of mutations cause HbS and HbC?

A

missense mutations

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6
Q

what type of hemoglobin do patients with alpha thalasemmia have?

A

HbH (beta tetramers)

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7
Q

what is HbH?

A

beta tetramers

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8
Q

how would HbH look on electrophoresis?

A

it would migrate FARTHER than HbA

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9
Q

what is Hb Barts?

A

gamma

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10
Q

what will you see on blood smear of someone with HbC?

A

HbC crystals

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11
Q

what is the name of the disorder with galactokinase deficiency?

A

galactosemia

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12
Q

Presentation of galactosemia

A

cataracts and reducing sugars in the urine

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13
Q

how does fructokinase deficiency present? (essential fructosuria)

A

Benign - + reducing sugars in urine

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14
Q

what is deficient in hereditary fructose intolerance?

A

aldolase B

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15
Q

presentation of hereditary fructose intolerance?

A

hypoglycemia, hypophosphatemia, failure to thrive

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16
Q

whats the function of the theca externa cells?

A

do NOT participate in steroidogenesis - they are supportive tissue made of SM and fibroblasts

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17
Q

whats the function of theca interna cells?

A

synthesize androgens and progesterone under stimulation of LH

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18
Q

which cells convert androgens to estrogen in the female ovary?

A

granulosa cells (in response to FSH)

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19
Q

what enzyme do granulosa cells contain?

A

aromatase

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20
Q

function of renin?

A

converts angiotensinogen to angiotensin I

21
Q

function of ACE?

A

converts angiontensin I to angiotensin II

22
Q

functions of angiotensin II

A
  • increases aldosterone
  • systemic vasoconstriction
  • efferent arteriolar vasoconstriction
23
Q

chromosomal findings of klinefeleters?

A

47, XXY

24
Q

pathophys of C diff toxins

A

Toxins disrupts cellular cytoskeletons and and tight junctions -> apoptosis/necrosis and formation of pseudomembranes

25
Q

what will be seen on histology of someone with C diff?

A

neutrophilic infiltrate, fibrin, bacteria and necrotic epithelium

26
Q

presentation of salmonella typhi

A

bloody diarrhea, fever, abdominal pain, salmon coloured macules on trunk

27
Q

which cell marker is found on monocytes/macrophages?

A

CD14

28
Q

function of CD14?

A

binds to bacterial LPS

29
Q

how can grapefruit juice lead to decreased metabolism of drugs?

A

it inhibits the INTESTINAL CYP 450s

30
Q

why are OCPs, multiparity and breastfeeding protective over epithelial ovarian cancer?

A

they decrease ovulation - decrease the frequency of trauma and repair at the ovarian surface

31
Q

name two microangiopathic hemolytic anemias

A

TTP and HUS

32
Q

pathophys of TTP?

A

decreased ADAMTS13 - normally cleaves vWF into smaller monomers for degradation. Large uncleaved monomers lead to abnormal platelet adhesion resulting in microthrombi. - usually from autoantibody against ADAMTS13

33
Q

presentation of microangiopathic hemolytic anemia? (HUS and TTP)

A
  • skin and mucosal bleeding
  • hemolytic anemia
  • fever
  • renal insufficiency (HUS)
  • neurological abnormalities (TTP)
34
Q

lab findings of microangiopathic hemolytic anemia? (HUS and TTP)

A
  • thrombocytopenia with increased bleeding time
  • normal PT/PTT
  • anemia with schistocytes
  • increased megakaryocytes on bone marrow biopsy
35
Q

treatment of microangiopathic hemolytic anemia? (HUS and TTP)

A

plasmapheresis and corticosteroids

36
Q

how does hypertensive nephrosclerosis appear microscopically?

A

-intimal thickening and luminal narrowing or the arterioles, with glomerular sclerosis

37
Q

which type of cells get destroyed by H pylori related inflammmation in the antrum of the stomach?

A

somatostatin-secreting cells (delta cels)– decreased inhibition of gastrin

38
Q

what encapsulated a pancreatic pseudocyst?

A

granulation tissue

39
Q

what lines a true cyst?

A

epithelial cells

40
Q

pathophys of HIV associated dementia

A

HIV enters the CNS via infected monocytes and establishes a productive infection in microglial cells and perivascular macrophages. This leads to formation of small areas of necrosis and multinucleated giant cells

41
Q

does D-xylose require pancreatic enzymes for absoprtion?

A

No, its a monosaccharide (as is glucose and galactose) and thus is absorbed by faciliated diffusion or co-transport

42
Q

what is the most commonly delayed milestone?

A

language

43
Q

explain the specific pathway of a carotid massage

A

The baroceptors in the carotid sinus detect a change in pressure. The affarent pathway is the Hering nerve; a branch of the CN IX, which travels to the medulla. The efferent nerve is the vagus nerve.

44
Q

anti-cyclic citrullinated peptide antibodies are associated with which disease?

A

rheumatoid arthritis

45
Q

which antibodies are associated with SLE?

A

ANA, anti-double stranded DNA, and anti-smith

46
Q

antihistone antibodies are associated with wchih disease?

A

drug induced lupus

47
Q

lab findings in SLE?

A

anemia, leukopenia, thrombocytopenia
+ ANA, anti-ds DNA, anti-smith
-low complement levels, increased immune complexes

48
Q

AMA antibodies are found in which disorder?

A

primary biliary cholangitis

49
Q

which type of maneuvers worsen left ventricular hypertrophy?

A

maneuvers that decrease LV preload or decrease afterload - the decraesed blood volume worsens the LVOT obstruction