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Flashcards in 7/13 Deck (130)
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1

what can increase risk of osteoporosis and pathologic fractures

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

2

what 2 common manifestations come from prolactinoma

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

also vaginal dryness

3

what is the t(15;17) cancer

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

4

how do you dx T1DM

fasting blood glucose test and Hb A1c

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

5

what's the pathogenesis of MSUD

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"

6

what gives urine the sweet odor in MSUD

metabolite of Isoleucine

7

what are the cofactors required for BCKCD

Thiamine
Lipoate
Coenzyme A
FAD
NAD

"Tender Loving Care For Nancy"

some MSUD pts improve with high doses of Thiamine tx

8

what doe most disorders of the urea cycle require

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

9

what are 2 vitamins that are recommended in hyperhomocysteinemia

Pyridoxine and Cobalamin

Vitamin B6 and B12

10

what's the pathogenesis of McCune Albright Syndrome

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

11

what are the clinical features of McCune Albright Syndrome

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

12

typical systemic features of sarcoidosis

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

13

what is the pathogenesis of hypercalcemia in sarcoidsosis

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.

14

which strains of H flu are nontypable

those that do not form an antiphagocytic capsule

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

15

how do you calculate attributable risk

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

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

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

16

what are the synonyms for accuracy and precision

Accuracy = validity

Precision = reliability

17

what does HPV 1-4 present with

skin warts (verruca vulgaris)

18

what does HPV 6,11 present with

genital warts (condylomata acuminata

19

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

cervical, vaginal, vulvar, and anal neoplasia

20

how do you describe koilocytes

dysplastic cervical cells with pyknotic "raisinoid" nucleus and hyperchromasia

irregularly staining cytoplasm with perinuclear clearing, resulting in a halo

21

what doe you see koilocytes in

HPV infection

22

what is the buzzword phrase for HPV infection

post-coital bleeding

23

what is duodenal atresia

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

Bilious vomiting

24

what is duodenal atresia associated with

Down Syndrome

25

what is jejunal atresia

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

26

what is DiGeorge Syndrome's cause

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

27

what does DiGeorge present with

PTH and thymic hypoplasia

hypocalcemia
T cell deficiency

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

28

what is DiGeorge's genetic problem

22q11.2 micro deletion

29

what does the supraspinatus do

arm abduction

30

what does the infraspinatus do

external rotation of arm