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Daily Flashcard Quizzes > 7/13 > Flashcards

7/13 Flashcards

1
Q

what can increase risk of osteoporosis and pathologic fractures

A

glucocorticoids, Heparin, Thiazolidinediones:
decrease bone formation

PPI:
decrease Ca absorption

GnRH agonists:
decrease T and estrogen

Aromatase inhibitors and Medroxyprogesterone:
decrease estrogen

CYP450 anticonvulsants:
increase Vit D metabolism

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2
Q

what 2 common manifestations come from prolactinoma

A

prolactin-induced hypogonadism (low estrogen), which leads to low bone density

also vaginal dryness

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3
Q

what is the t(15;17) cancer

A

APL, the M3 type of AML

associated with the promyelocytic leukemia (PML) gene on Chr 15 and the Retinoic Acid Receptor Alpha (RARa) on Chr 17

PML/RARA fusion codes for an abnormal retinoid acid receptor, which inhibits myeloblast differentiation

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4
Q

how do you dx T1DM

A

fasting blood glucose test and Hb A1c

glucose tolerance tests are reserved for gestational diabetes and CF-related diseases

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5
Q

what’s the pathogenesis of MSUD

A

defective breakdown of branched-chain amino acids,
Isoleucine, Leucine, Valine
by the branched-chain alpha-ketoacid dehydrogenase complex. May be able to somewhat treat with Thiamine.

“I Love Vermont’s maple syrup from B1anched trees”

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6
Q

what gives urine the sweet odor in MSUD

A

metabolite of Isoleucine

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7
Q

what are the cofactors required for BCKCD

A 
Thiamine
Lipoate
Coenzyme A
FAD
NAD

“Tender Loving Care For Nancy”

some MSUD pts improve with high doses of Thiamine tx

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8
Q

what doe most disorders of the urea cycle require

A

Arginine as an essential Amino Acid

these pts often develop hyperammonemia, and Arginine is administered for production of downstream water-soluble intermediates (ornithine, citrulline) that lead to Nitrogen disposal and decreased plasma NH3 levels

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9
Q

what are 2 vitamins that are recommended in hyperhomocysteinemia

A

Pyridoxine and Cobalamin

Vitamin B6 and B12

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10
Q

what’s the pathogenesis of McCune Albright Syndrome

A

mosaic somatic mutation in the GNAS gene encoding the stimulatory alpha-subunit of G protein

constitutive activation of CAMP/adenylate cyclase leads to overproduction of several hormones

lethal if the mutation occurs before fertilization (affects all cells)
but survivable in pts with mosaicism

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11
Q

what are the clinical features of McCune Albright Syndrome

A

Café-Au-Lait spots (unilateral)
Fibrous dysplasia
Endocrine abnormalities (precocious puberty, hyperthyroidism, etc)

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12
Q

typical systemic features of sarcoidosis

A 
respiratory symptoms
systemic symptoms
skin lesions
uveitis 
Lofgren syndrome
bilateral hilar adenopathy
LAD
noncaseating granulomas
Hypercalcemia
elevated serum ACE level
African American!
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13
Q

what is the pathogenesis of hypercalcemia in sarcoidsosis

A

1-alpha hydroxylase normally mades 1,25-dihydroxyvitamin D in the kidney. This step is regulated by PTH’s response to blood Ca levels.

Sarcoidosis:
1-alpha-hydroxylase expression in ACTIVATED MACROPHAGES in the lung and lymph nodes causes PTH-independent 1,25-dihydroxyvitamin D.
This leads to increased intestinal absorption of Ca and hypercalcemia.

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14
Q

which strains of H flu are nontypable

A

those that do not form an antiphagocytic capsule

the type b vaccine is only useful for the capsule’d bacteria

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15
Q

how do you calculate attributable risk

A

AR % =
100 x [(RR - 1) / RR]

so if smokers have 5x more likely of getting cancer,

AR % =
100 x [(5-1) / 5]

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16
Q

what are the synonyms for accuracy and precision

A

Accuracy = validity

Precision = reliability

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17
Q

what does HPV 1-4 present with

A

skin warts (verruca vulgaris)

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18
Q

what does HPV 6,11 present with

A

genital warts (condylomata acuminata

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19
Q

what does HPV 16,18,31,33 present with

A

cervical, vaginal, vulvar, and anal neoplasia

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20
Q

how do you describe koilocytes

A

dysplastic cervical cells with pyknotic “raisinoid” nucleus and hyperchromasia

irregularly staining cytoplasm with perinuclear clearing, resulting in a halo

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21
Q

what doe you see koilocytes in

A

HPV infection

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22
Q

what is the buzzword phrase for HPV infection

A

post-coital bleeding

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23
Q

what is duodenal atresia

A

failure to RECANALIZE the duodenum, leading to double bubble sign.

Bilious vomiting

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24
Q

what is duodenal atresia associated with

A

Down Syndrome

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25
Q

what is jejunal atresia

A

disruption of the mesenteric VASCULATURE, causing ischemic necrosis and bowel discontinuity

still presents with bilious vomiting

“apple peel” atresia occurs when the SMA is OCCLUDED, resulting in a blind-ending jejunum, absent bowel/mesentery, then the terminal ileum spiraled around the ileocolic vessel

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26
Q

what is DiGeorge Syndrome’s cause

A

maldevelopment of the 3rd pharyngeal pouch (inferior parathyroid and thymus) and 4th pharyngeal pouch (superior parathyroid) because the neural crest fails to migrate

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27
Q

what does DiGeorge present with

A

PTH and thymic hypoplasia

hypocalcemia
T cell deficiency

"CATCH 22"
Cleft palate
Abnormal facies
Thymus aplasia
Cardiac defects
Hypocalcemia
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28
Q

what is DiGeorge’s genetic problem

A

22q11.2 micro deletion

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29
Q

what does the supraspinatus do

A

arm abduction

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30
Q

what does the infraspinatus do

A

external rotation of arm

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31
Q

what does the teres minor do

A

adduction and external rotation of arm

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32
Q

what does the subscapularis do

A

adduction and internal rotation of arm

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33
Q

where do the SItS muscle originate on scapula

A

supraspinous fossa
infraspinous fossa
lateral border
sub scapular fossa

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34
Q

where do the SItS muscles attach on the humerus

A

greater tuberosity x 3

lesser tuberoscity

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35
Q

what innervates the SItS muscles

A

Supra scapular nerve
supra scapular nerve
Axillary nerve
upper and lower sub scapular nerve

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36
Q

what are the true and false ribs

A

true: first 7 rib paris
false: lower 5 pairs (cartilage does not attach to the sternum)

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37
Q

which rib does the kidney lie against

A

12th rib

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38
Q

what ribs overly the spleen

A

9,10,11

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39
Q

what causes warfarin-induced skin necrosis

A

an underlying protein C or S deficiency

early loos of protein C leaves pts in a transient hyper coagulable state until the other coagulant factors are inhibited

this causes microvascular occlusion, hemorrhagic skin necrosis

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40
Q

what is BCL-2

A

B-cell Lymphoma-2 is a

proto-oncogene because it has anti-apoptotic effects

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41
Q

what is t(14;18)

A

Follicular lymphoma

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42
Q

what is wrong in follicular lymphoma

A

BCL-2 over expression

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43
Q

what happens with any translocation associated with 14

A

over-expression

this is the Ig heavy chain spot

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44
Q

what is made in CML

A

BCR-ABL hybrid

9;22 translocation on Philadelphia chromosome

“ABL to eat 9hiladelphia CreaML cheese”

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45
Q

what are epidermal growth factors over expressed in

A

many cases of breast cancer

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46
Q

what are epidermal growth factor examples

A

ErbB2, HER2, neu

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47
Q

what cells does HIV invade

A

CD4, macrophages, and dendritic cells

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48
Q

what are the core proteins in HIV

A

gag: codes for p24 and p7

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49
Q

what are the envelope proteins in HIV

A

env: codes for gp41 and gp120

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50
Q

what is the protease protein in HIV

A

pol: codes for protease to cleave HIV mRNA into functional, mature viruses, Reverse Transcriptase, and Integrase

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51
Q

what is gp41’s significance

A

allows for HIV fusion

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52
Q

what is p120’s signifcance

A

HIV’s surface p120 allows binding and entry into host CD4 cell via chemokine receptor CXCR4 or CCR5

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53
Q

what does a mutation in pol gene give you

A

resistance to NRTIs, NNRTIs, protease inhibitors, and integrase inhibitors,

since pol gene makes proteases, integrases, and reverse transcriptases

54
Q

where does entry and fusion inhibitor resistance come from

A

mutations in env gene

55
Q

what do env mutations cause

A

escape from host neutralizing antibodies

56
Q

what does pyruvate kinase do

A

glycolytic pathway enzyme that converts phsophoenolpyruvate to pyruvate, generating a molecule of ATP
PEP –> pyruvate

57
Q

what does pyruvate kinase help facilitate

A

the ATP molecule generation is used for RBC energy.

after pyruvate, RBCs go to lactate since they lack mitochondria and can’t use TCA cycle.

58
Q

what does pyruvate kinase deficiency cause

A

hemolytic anemia 2/2 failure of glycolysis and sufficient ATP production in RBCs and failure to maintain membrane integrity.

splenic parenchyma with red pulp undergoes hyperplasia to remove the deformed/rigid RBCs

59
Q

why is methadone helpful in treating heroin and opioid withdrawal

A

long half life

abrupt cessation can still cause withdrawal, although less severe

60
Q

what enzyme is deficient in Pompe disease

A

alpha-1,4-glucosidase in Lysosomes

Pompe trashes the pump, which has 4 chambers

61
Q

how does Pompe present

A

baby with CARDIOMEGALY and hypotonia
leads to early death

glycogen accumulation in lysosomes (PAS stain +)

normal blood glucose levels, because problem is only in lysosomes

62
Q

what stains PAS

A

glycogen

63
Q

what enzyme is deficient in McArdle Disease and Hers disease

A

glycogen phosphorylase in Muscles

glycogen phosphorylase in Hepatic cells

64
Q

how does mcardle disease present

A

Mcardle targets Muscles-
muscle cramps, myoglobinuria

normal glycogen and normal blood glucose levels

high glycogen in muscles, but cannot break it down

no rise in blood lactate levels after exercise, because glycogen can never get into the glycolysis pathway to get to lactate

weakness and fatigue with exercise, but have second wind phenomenon due to increased muscular blood flow

65
Q

what enzyme is deficient in Von Gierke

A

Glucose-6-phosphatase

it’s the last step in making glucose in the liver

66
Q

how does Von Gierke present

A

liver cannot do the last step of glucose synthesis

as a result, you’ll have massive glycogen buildup in liver, and since it can’t make glucose during fasting, you’ll have SEVERE fasting hypoglycemia, high blood lactate, uric acid (gout), and hepatomegaly

67
Q

how doe you treat Von Gierke

A

frequent glucose

avoid fructose and galactose, that have to be made into glucose

68
Q

what enzyme is deficient in Cori

A

Debranching enzyme
alpha-1,6-glucosidase

“core has 6 pack abs”
“C,D”
“can’t cleave”

69
Q

how does Cori disease present

A

milder form of Von Gierke

still have hepatomegaly

ketotic hypoglycemia
hypotonia and weakness

you have abnormal glycogen structures and very short outer chains- “dextrin like” because you can’t get your molecule totally straight; it just has little nubs

gluconeogenesis is intact, as long as you’re getting your glucose source from somewhere else, so that’s why it’s milder than Von Gierke

glycogenolysis path is not intact

70
Q

what is the progression of atherosclerosis

A

endothelial cell dysfunction

macrophage and LDL accumulation

foam cell formation (lipid laden macrophage)

fatty streaks

SM cell migration (PDGF and FGF)

extracellular matrix deposition (collagen forms weak fibrous cap)

fibrous plaque (via vascular SM cells)

complex atheroma

71
Q

what is amino glycoside’s MOA

A

bind to 30s ribosomal subunit

bactericidal

72
Q

what is I-cell disease

A

inclusion cell disease

lysosome-bound proteins are not phosphorylated with specific mannose residues, are not transported properly through Golgi, and are released into the extracellular space rather than going back to the lysosome for degradation

73
Q

what enzyme is deficient in I cell disease

A

phosphotransferase enzyme, which catalyzes the phosphorylation of mannose residues on lysosome-bound proteins

74
Q

what is SCID

A

Adenosine Deaminase deficiency,

leading to a defect in T cell development, leading to both cellular and humoral immunity loss (T and B cells)

75
Q

how does SCID present

A

infancy with multiple infections, thrush, failure to thrive, and diarrhea

76
Q

what are the SCID findings

A

absent CD3 T cells, so no TRECs (T-cell receptor excision circles)

hypogammaglobulinemia
lymphopenia

Absence of thymic shadow, germinal centers, and T cells

77
Q

how doe you treat SCID

A

bone marrow transplant ASAP

78
Q

what is X-linked agammaglobulinemia

A

a B cell disorder called Bruton agammaglobulinemia

defect in BTK, a tyrosine kinase gene, so no B cell maturation, so low Ig in all classes

presents after 6mo because of mom’s IgG

79
Q

what is the buzzword for coarse facial features

A

I-disease

80
Q

what does a skin antigen test do

A

it determines presence of cellular, or T cell-mediated immunity through the Type 4 delayed hypersensitivity rxn

81
Q

what are the key cells involved in skin antigen tests

A

CD8 T cells, CD4 T cells, and macrophages

82
Q

how does the skin antigen test work

A

inject antigen

macrophages present the antigen to CD4+ hyper T cells

CD4+ cells secrete cytokines to recruit CD8+ cells

induration and erythema

CD4 and CD8 cells both produce IFN-gamma, which stimulates phagocytosis of the antigen by the macrophages

83
Q

when is glucose excreted into the urine

A

when it reaches higher plasma concentrations

glucose is excreted when the filtered amount exceeds the transport maximum back into the blood

84
Q

what is a complete mole

A 
all DNA comes from sperm
46 XX (1 sperm duplicates) or 47XY (2 sperm)
NO fetal tissue (need egg)
SUPER HIGH b-hCG
clusters of grape cysts
large uterus
snowstorm on US

risk of Gestational Trophoblastic Neoplasia and choriocarcinoma, so monitor b-hCG post-abortion

85
Q

what is a partial mole

A

2 sperm + 1 egg
69 XXY, 69 XYY, 69 XXX

“partial” fetus
elevated b-hCG, but not extreme
no enlarged uterus

rare risk for neoplasia or malignancy

86
Q

what is most atrophied in Alzheimer’s

A

diffuse cortical atrophy, but hippocampus is most atrophied

87
Q

what does Vitamin C do

A

antioxidant

facilitates Fe absorption by reducing it to Fe2+ (can treat methemoglobinemia)

HYDROXYLATION OF PROLINE AND LYSINE IN COLLAGEN SYNTHESIS

necessary for dopamine beta-hydroxylase, which converts dopamine to NE

88
Q

how does Vitamin C deficiency present

A

Vitamin C causes sCurvy 2/2 Collagen synthesis defect

swollen gums!!
“corkscrew” hair!!
brusing, petechiae, hemarthrosis, anemia, poor wound healing, weak immune response

89
Q

what are the results of conductive hearing loss

A

Rinne test is abnormal in affected ear (can’t hear after you take it off the mastoid process)

Weber test lateralizes to the AFFECTED ear.

90
Q

what is age-related macular degneration

A

degeneration of macula (Central area of retina)

causes distortion and eventual loss of central vision

91
Q

how does age-related macular degeneration present in dry vs wet

A

decreased vision and grey discoloration of macula

Dry:
common; 80%
deposition of yellow material between Bruch membrane and retinal pigment epithelium
gradual decrease in vision
prevent progression w/ Multivitamin and antioxidant supplements

Wet:
retinal neovascularization due to increased VEGF levels. Rapid loss of vision 2/2 hemorrhage
Treat with anti-VEGF and smoking cessation

92
Q

what are anti-VEGF drugs and what are they used in

A

ranibizumab, bevacizumab

“After I RAN, I had my EYE on those VEG-F-ies and BEVerages”

age-related retinal neovascularization in macular degeneration

93
Q

what are macrolide names

A

azithromycin
clarithromycin
erythromycin
Clindamycin

94
Q

what are aminoglycoside names

A 
Gentamycin
Neomycin
Amikacin
Tobramycin
Streptomycin
95
Q

characterize osteoporosis bone

A

loss of total bone mass that results in trabecular thinning with few interconnections

primarily involves trabecular bones

96
Q

characterize hyperparathyroidism bone

A

subperiosteal thinning and resorption with cystic degeneration

primarily involves cortical bones

there’s an increase in osteoclastic activity

97
Q

describe Vit D deficiency bone

A

excessive uniminearlized osteoid, resulting in low mineral density.

low Vitamin D is not absorbing appropriate Ca and PO4 from GI tract to mineralize bone

98
Q

describe osteopetrosis bone

A

persistence fo primary, unmineralized spongiosa in the medullary canals

the primary spongiosa is normally replaced by bone marrow

99
Q

what are the seronegative spondyloarthropies associated with

A

(absent Rh factor)

associated with HLA B27, which is HLA Class 1

100
Q

what are the HLA class 2 proteins

A

HLA-DR DP, DQ alleles

these are expressed by antigen-presenting cells (macrophages and dendritic cells) that present predominantly foreign antigens to CD4+ helper T cells.

conditions include RA, T1DM, and Celiac

101
Q

what is Rheumatoid Factor

A

IgM antibodies against IgG

“i Make IgM aGainst IgG”

102
Q

what is linked with colon adenocarcinoma reduction

A

regular aspirin use, as it’s a COX-2 inhibitor and will decrease adenomatous polyp formation

103
Q

what is tumor lysis syndrome

A

emergency that can develop during chemotherapy for cancers with rapid cell turnover, substantial tumor burden, or high sensitivity to chemo

characterized by hyperphosphatemia, hypocalcemia, hyperkalemia, and hyperuricemia

104
Q

how can you prevent chemo-induced tumor lysis syndrome

A

hydration and hypouricemic agents like allopurinol or RasbURICase!

these metabolize uric acid to more soluble compounds

105
Q

what do Hemophilia A and B labs look like

A

both are X-linked (think male!)

deficiency in the intrinsic pathway

prolonged PTT
NORMAL bleeding time (no problem with platelets, like in VWF)

106
Q

what do VWF disease labs look like

A

prolonged bleeding time!! (a test of platelet function!) (vs Hemophilia A

normal/prolonged PTT

107
Q

what si the metyrapone test

A

tests the hypothalamic-pituitary-adrenal axis

metyrapone blocks the last step of cortisol synthesis via 11-beta-hydroxylase

a normal response to low cortisol is to increase both ACTH and 11-deoxycortisol (to make cortisol)

primary adrenal insufficiency:
high ACTH
low 11-deoxycortisol

secondary/tertiary adrenal insufficiency:
both are low

108
Q

what is a developmental field defect

A

multiple malformations that occur 2/2 an embryonic disturbance in an adjoining group of cells

109
Q

what is holoprosencephaly

A

developmental field defect w/ spectrum of anomalies 2/2 incomplete division of the forebrain (prosencephalon)

may present with:
closely set eyes or cyclopia, cleft lip/palate, primitive nasal structure (proboscis), and mid facial clefts

110
Q

what is Goodpasture syndrome

A

autoantibodies against the alpha 3 chain of type 4 collagen in GBM and alveolar BM

present with RPGN and alveolar hemorrhage

111
Q

what are anticardiolipin antibodies seen in

A

antiphospholipid antibody syndrome

112
Q

how does antiphospholipid syndrome present

A

recurrent arterial and venous thrombosis or recurrent spontaneous abortions

113
Q

what are anti-topoisomerase antibodies seen in

A 
systemic sclerosis
(skin thickening, Raynaud, esophageal dysfunction)

AKA anti-Scl-70 antibodies

114
Q

how do you prevent tetanus

A

immunization with toxoid that triggers the production of antitoxin antibodies (active immunity)

circulating antibodies that neutralize bacterial products

115
Q

what is filtration fraction

A

FF = GFR/RPF

usually 20% in healthy individuals!!

GFR estimated by inulin or Cr clearance

RPF estimated by PAH clearance

Clearance = [urine] x [urine flow rate] / [plasma]

116
Q

what does mild efferent arteriole constriction do to GFR and FF

A

increases GFR

slightly decreases RPF, so increases FF

117
Q

what is the pathophysiology of TTP

A

low ADAMTS13 level
leads to uncleared VWF multimers, which are prothrombotic
platelet trapping and activation

presents with:
schistocytes and hemolytic anemia
thrombocytopenia (increased bleeding time; normal PT/PTT)

118
Q

what does mature mRNA have

A

poly-A tail

5’ 7-methyl-guanosine cap

spliced out introns

119
Q

what is seen with Henoch Schonlein Purpura

A

most common childhood vasculitis!!!

often follows URI

Classic triad:
PALPABLE PURPURA on buttocks/legs
arthralgias
abdominal pain/GI

vasculitis 2/2 IgA and C3 complex deposition

pathology is similar to IgA nephropathy (Berger disease), but it’s more than just renal deposition

120
Q

what is palpable purpura on buttocks/legs a buzzword for

A

HENOCH SCHONLEIN PURPURA

121
Q

what does CGG trinucleotide repeat on the X chromosome go with

A

Fragile X syndrome

122
Q

what does Fragile X syndrome cause

A

the CGG trinucleotide repeat mutates the FMR1 gene, causing FMR1 HYPERMETHYLATION, which inactivates FMR1, preventing prescription, and the production of a fragile X

123
Q

what is an integrate inhibitor’s MOA

A

it inhibits the integration of the double-stranded HIV DNA (made w. the reverse transcriptase) into the host cell’s chromosomes, which is necessary for viral gene transcription (to make mRNA) and prevention of viral genome degradation.

if you inhibit integration, then you’re inhibiting production of viral messenger RNA

124
Q

what do NRTIs and NNRTIs inhibit

A

complementary DNA synthesis from a viral RNA template

125
Q

what is the drug you give to treat acute gout

A

NSAIDs

XO inhibitors and uric acid PCT reabsorption inhibitors are used for preventative future attacks

126
Q

what is the speed of Hb movement through a gel electrophoresis

A

Hb A > S > C

HbC has the least negative charge because it has lysine

127
Q

what type of mutations are HbC and HbS

A

missense mutations

128
Q

where is IGF-1 released from

A

liver

following hepatic GH receptor stimulation then activation of the JAK-STAT signaling pathway to produce IGF-1

129
Q

when is meiosis 1 arrested

A

Meiosis 1 is arrested in prOphase 1 for years until Ovulation (primary oocytes)

130
Q

when is meiosis 2 arrested

A

Meiosis 2 is arrested in METaphase 2 until fertilization (2ndary oocytes)

“An egg met a sperm”

if fertilization

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