Flashcards in test #29 4.19 Deck (184)
what surface marker (cell type) is deficient in Bruton's X-linked agammaglobulimemia?
CD19 (no mature B cells in circulation)
B cell markers
CD19, 20, 21
neutrophil marker. also present in reed sternberg cells
NK cells (and others)
two types of abnormal ventilation during sleep
(1) apnea (cessation of breathing for >10 seconds)
(2) hypopnea (reduced airflow causing SaO2 to decrease >4%)
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
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
differentiation obesity hypoventilation syndrome from sleep apnea?
sleep apnea: normal arterial blood gas in day time
central sleep apnea
patient's central DRIVE to initiate breaths is absent.
neurological problem (not mechanical)
tumor w/ fat, smooth muscle, blood vessel
angiomyolipoma (benign tumor)
associated w/ tuberous sclerosis
tuberous sclerosis inheritance
tuberous sclerosis symptoms
- 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
autosomal DOMINANT. bilateral acoustic neuromas.
also have multiple meningiomas, gliomas, ependymomas of spinal cord.
cerebellar hemangiomas, retinal hemangiomas, liver cysts, bilateral renal cell carcinoma, pheochromocytoma
Tram track Ca2+ opposite gyrus
Unilateral leptomeningeal angioma& port-wine stain
GNAQ (activating mutation)
& Glaucoma (episcleral hemangioma)
port-wine stain -- nonblanching in V1/V2 distribution
developmental anomaly of neural crest derivatives (mesoderm/ectoderm)
hereditary hemorrhagic telangiectasia
multiple tenangiectasia of skin & mucosa.
presentation is recurrent epistaxis or GI bleed (melena)
how does B agonists (increased camp) increase contractility?
cAMP increases conductance of Ca2+ channels in SR.
when patient takes exogenous glucocorticoids, worry about..
how is this prevented?
acute adrenal insufficiency (when used for 3+ wks)
prevent by tapering off treatment
where does suppression occur when extended exogenous glucocortoids are taken?
the WHOLE axis: hypothalamic, pituitary, and adrenal!
low CRH, low ACTH, low cortisol!
mutation in NF1
mutation in NF1, tumor suppressor that regulates Ras
how does alcohol lead to pancreatitis?
obstruction via ductal concreations & direct parenchymal injury
three types of damage in pancreatitis
(1) pancreatic autodigestion - proteases
(2) vascular damage & hemorrhage - elastase
(3) fat necrosis - lipase / phospholipase
hydrolyze starch into maltose (a glucose-glucose dissacharide), trisaccharide maltotriose, limit dextins
17 alpha hydroxylase needed for (2)
(1) pregnenolone -> 17 hydroxypregnenolone
(2) progesterone -> 17 hydroxyprogesterone
17 alpha hydroxlase deficiency on secondary sex characterestics
prevents in both males & females.
no menarche in females
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
urine from umbilicus
persistant allantois remnant
duct between bladder (urogenital sinus) and yolk sac