test #29 4.19 Flashcards Preview

UWorld mixed > test #29 4.19 > Flashcards

Flashcards in test #29 4.19 Deck (184)
Loading flashcards...
1

what surface marker (cell type) is deficient in Bruton's X-linked agammaglobulimemia?

CD19 (no mature B cells in circulation)

2

B cell markers

CD19, 20, 21

3

CD15

neutrophil marker. also present in reed sternberg cells

4

CD16

NK cells (and others)

5

two types of abnormal ventilation during sleep

(1) apnea (cessation of breathing for >10 seconds)
(2) hypopnea (reduced airflow causing SaO2 to decrease >4%)

6

obstructive sleep apnea

noturnal hypoventilation w/ a transient upper airway obstruction due to poor pharyngeal muscle tone

most common cause of excessive daytime sleepiness

exam: erythrocytosis, obesity, increased soft tissue in oropharynx

arterial blood gas in day: normal

7

obesity hypoventilation syndrome (aka Pickwickian syndrome)

obesity impedes expansion of chest and abdominal wall during breathing.

increased respiratory work & decreased respiratory drive.

underventilation during all hours (chronically elevated PaCO2 and reduced PaO2)

arterial blood gas = abnormal

8

differentiation obesity hypoventilation syndrome from sleep apnea?

sleep apnea: normal arterial blood gas in day time

9

central sleep apnea

patient's central DRIVE to initiate breaths is absent.

neurological problem (not mechanical)

10

tumor w/ fat, smooth muscle, blood vessel

angiomyolipoma (benign tumor)

associated w/ tuberous sclerosis

11

tuberous sclerosis inheritance

autosomal DOMINANT

12

tuberous sclerosis symptoms

HAMARTOMAS

- hamartomas in CNS and skin
- angiofibromas (face, adenoma sebaceum)
- mitral regurgitation
- angiomyolipoma (renal)
- tuberous sclerosis
- autosomal dOminant
- mental retardation
- ash-leaf patch (hypopigmented)
- shagreen patch (thick leathery, dimpled, organge

also: subependymal astrocytoma and ungual fibromas

13

NF2

autosomal DOMINANT. bilateral acoustic neuromas.

also have multiple meningiomas, gliomas, ependymomas of spinal cord.

14

cerebellar hemangiomas, retinal hemangiomas, liver cysts, bilateral renal cell carcinoma, pheochromocytoma

von-hippel-lindau

15

sturge-weber syndrome

STURGE:

Somatic
Tram track Ca2+ opposite gyrus
Unilateral leptomeningeal angioma& port-wine stain
Retardation
GNAQ (activating mutation)
& Glaucoma (episcleral hemangioma)
Epilepsy

port-wine stain -- nonblanching in V1/V2 distribution

developmental anomaly of neural crest derivatives (mesoderm/ectoderm)

16

hereditary hemorrhagic telangiectasia

Osler-Rendu-Weber syndrome

multiple tenangiectasia of skin & mucosa.

presentation is recurrent epistaxis or GI bleed (melena)

17

how does B agonists (increased camp) increase contractility?

cAMP increases conductance of Ca2+ channels in SR.

18

when patient takes exogenous glucocorticoids, worry about..

how is this prevented?

acute adrenal insufficiency (when used for 3+ wks)

prevent by tapering off treatment

19

where does suppression occur when extended exogenous glucocortoids are taken?

the WHOLE axis: hypothalamic, pituitary, and adrenal!

low CRH, low ACTH, low cortisol!

20

mutation in NF1

mutation in NF1, tumor suppressor that regulates Ras

autosomal dominant

21

how does alcohol lead to pancreatitis?

obstruction via ductal concreations & direct parenchymal injury

22

three types of damage in pancreatitis

(1) pancreatic autodigestion - proteases
(2) vascular damage & hemorrhage - elastase
(3) fat necrosis - lipase / phospholipase

23

amylase makes..

hydrolyze starch into maltose (a glucose-glucose dissacharide), trisaccharide maltotriose, limit dextins

24

17 alpha hydroxylase needed for (2)

(1) pregnenolone -> 17 hydroxypregnenolone
(2) progesterone -> 17 hydroxyprogesterone

25

17 alpha hydroxlase deficiency on secondary sex characterestics

prevents in both males & females.

no menarche in females

26

5-alpha reductase deficiency on secondary sex characteristics?

abnormal external genitalia development, but will have normal secondary sex (increased muscle mass and phallus enlargement) bc of testosterone

prostate and hair = DHT

27

urine from umbilicus

persistant allantois remnant

28

allantois becomes..

URACHUS

29

urachus

duct between bladder (urogenital sinus) and yolk sac

30

failure of urachus to obliterate results in..

1. patent urachus: umbilicus to bladder: pee from belly button