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29 Cards in this Set

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  • Back
Orange-yellow tonsils, low serum total cholesterol, family history premature coronary artery disease, neuropathy, hand muscle wasting

What disease?
Which receptor is defective?
Tangier disease

Lack cholesterol receptor ABCA1 (can't get rid of cholesterol by reverse cholesterol transport onto HDL)

Very low HDL, lipid laden macrophages (tonsils, big lymph nodes, big liver)
Pt. w/small cell lung cancer presents with confusion, weight gain, fatigue, muscle weakness, hyponatremia.

What is being ectopically secreted?
ADH (SIADH)

(Bronchogenic carcinomas can secrete ectopic ADH)
Infection causing glassy intranuclear eosinophilic inclusions
Herpes simplex virus
What genes are associated with the MEN syndromes? How are they inherited?
All autosomal dominant

MEN1: MEN1 (tumor suppressor gene) codes for menin (inherit one bad copy, later mutate the other; 2-hit)

MEN 2a/2b: mutated ret oncogene
Leukemia associated with DIC
AML-M3 (acute promyelocytic leukemia)

(lysis of cells release Auer rods which can cause DIC)
The absence of which enzyme allows the zona glomerulosa to make aldosterone?
17-alpha hydroylase (zona fasciculata and reticularis need this enzyme)
A high fat diet can cause insulin resistance. This leads to high glucose and hyperinsulinemia.

What are the long term effects? What disease does this occur in?
Insulin producing beta cells "tire" and less insulin is made.

Type 2 DM
HLA-D3/HLA-D4 genotype increases risk for ____.
Type 1 DM
Where is most likely place in mouth for squamous cell carcinoma in a patient with history of tobacco and alcohol use?
Floor of mouth (base of tongue is least likely)
A woman develops Sheehan syndrome. Which 2 hormones must be replaced immediately?
Glucocorticoids and thyroid hormone

(this is an infarct of anterior pituitary related to obstetric hemorrhage; can replace other hormones but these 2 are critical for survival)
How does acute and chronic Mg deficiency affect Ca?
Acute: increases PTH; hypercalcemia

Chronic: decrease PTH action and secretion; hypocalcemia (often from malnutrition due to chronic alcoholism)
Hypocalcemia symptoms
Prolonged QT interval
Tremors, muscle fasciculations, seizure
Trousseau's sign (BP cuff >2 min causes carpal spasm)
Chvostek's sign (tap over facial nerve=spasm)
Paresthesias (lips, fingers, toes)
Anti-mitochondrial antibodies, pruritis, pale stools

What disease?
What if left untreated for many years?
Primary biliary cirrhosis (autoimmune dz. with sclerosing cholangitis and cholangiolitis)

Advanced disease leads to hypercholesterolemina/xanthomas
Synthesizes estradiol from testosterone
Aromatase
Which 3 secretagogues directly increase H+ secretion from parietal cells?
Gastrin, histamine, acetylcholine

(multiplicative effect; decreasing secretion of one decreases effectiveness of others. I.e. give atropine to inhibit Ach specifically also decreases effects of gastrin and histamine)
How does H. pylori survive in acidic enviroments?
Makes urease (detected on breath test). Urease makes ammonia to neutralize H+ in stomach.
Why might a child with sickle cell anemia have short fingers?
Past crises damage bone growth
What is good diet for pt. in renal failure?
Low protein
High carb, moderate fat
Low Na, low phosphorous
Limit fluids
Renal biopsy shows nest cells with abundant clear cytoplasm
Renal cell carcinoma
What types of clots do not have lines of Zahn (homogenous in color)?
Post mortem clot

(Premortem thrombi and emboli will have lines of Zahn, dark cell-rich layers, alternating with lighter layers of platelets and fibrin)
What would LH and testosterone levels be like in a phenotypic female, 46XY, with androgen insensitivity before removal of testes?
Both high
Pregnant woman has emergency C-section due to placetal abruption. Soon after develops cyanosis, SOB, and copious bleeding from wounds.

What bleeding disorder present and what factor is responsible?
DIC (placental abruption)

DIC develops when blood is exposed to massive amounts of tissue factor in short time
40 year woman with FH of kidney failure is found to have multiple renal cysts bilaterally

What disease and what else is she at risk for?
Adult polycystic kidney disease (AD)

Subarachnoid hemorrhage (APKD associated with berry aneurysms in circle of Willis)
Hypothyroidism + enlarged thyroid; biopsy shows lymphocytic/plasma cell infiltration with lymphoid follicles and germinal centers
Hashimoto's thyroiditis
What increases risk of thyroid lymphoma?
Hashimoto's thyroiditis
Yellow-brown hexagonal crystals in urine, staghorn calculi in renal pelvises, + nitroprusside cyanide test
Cysteinuria (AR defect of resorption of cysteine in renal tubules)
Treat cysteinuria?
Alkalinize urine (makes cysteine more soluble)
Argyll Robertson pupil
Pupil accomodates to near vision but won't constrict to light shined in either eye.

Lesion to Edinger-Westfall nucleus (neurosyphilis)
What would an eye look like if CN3 was lesioned?
"Down and out" and dialated pupils

(Superior oblique is for downward movement, lateral rectus moves it laterally