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102 terms


Topoisomerase I
Relieves (-) supercoiling via nicks
Topoisomerase II
Relieve (+) and (-) supercoiling via transient double stranded breaks followed by sealing.
Topoisomerase II inhibitor anti cancer drug. Testicular Cancer. Small Cell Lung Cancer.
Week 4
Neural Tube defects are the result of fusion fails of the anterior or posterior neural pore. When in development does this occur?
acetylcholine esterase
alpha fetoprotein
The presents of what in the amniotic fluid is indicative of a failure of fusion at the anterior or posterior neural pore (neural tube defect)?
anterior neural pore fusion
Total absense of brain and calvarium?
What failed?
anterior neural pore fusion
Herniation of brain tissue?
What failed?
Hirschsprung Disease
Failure of neural crest cell MIGRATION into the intestinal wall. Result: Absense of myenteric and submucosal plexi in a segment of colonic wall.
Duodenal atresia
ABNORMAL APOPTOSIS. Duodenal lumen fails to recanalize. Presents: Intestinal obstruction in first days of life.
Can a failure of proliferation result in a neural tube defect?
Can a failure of maturation result in a neural tube defect?
IgG anti Exotoxin B subunit
What molecule provides immunity to disease caused by Cornebacterium diptheriae?
K antigen
What does Corynebacterium diptheriae expression on its membrane to resist IgA immunity at mucosal surfaces?
N acetylcysteine
mucolytic agent->x disulfide bridges->X glycoproteins
Heart sound indicative of poor LV compliance
Heart sound indicative of High LV End Diastolic Pressure
Selective Beta 1 blocker. Used to decrease contractility and rate at the myocardium.
Clinically important dimorphic fungi
Dubin Johnson Syndrome
Autosomal Recessive. Mild conjugated hyperbilirubinemia.
Presents: mild icterus. No hepatosplenomegaly. Normal Liver Enzymes. Not Ill. Not Pruritic.
Elastin or Collagen?
Triple Helices via hydroxylation; glycosylation; S-S
Elastin or Collagen?
nonpolar amino acids
Elastin or collagen?
Not hydroxylated (proline, lysine)
Increases systemic pressure
decreases Right to Left Shunt
What does squatting achieve in Tetralogy of Fallot?
atrial fibrillation
AV node refractory period
Absent P waves. Narrow QRS complex. Irregularly irregular R-R. What is the diagnosis? What determines the rate of ventricular contraction here?
Neural Crest Cell migration
Embryologically, what has failed in Tetralogy of fallot?
Neural Crest Cell migration
Embryologically, what has failed in Truncus Arteriosus?
Neural Crest cell migration
Embryologically, what has failed in Transposition of the great vessels?
What receptor mediates renin release from Juxtaglomerular cells?
O2 consumption/arteriovenous O2 difference
Cardiac Output as determined by the Fick equation is equal to what?
aorticopulmonary septation
bulbis cordis
truncus arteriosus
Neural crest cell migration failure is the cause of Tetralogy of Fallot, Truncus Arteriosus, and Transposition of the Great Vessels. What process does the this migration fail in? And which structures do they fail to migrate to?
Atrioventricular Septum
Pulmonary Hypertension
Embryologically, Endocardial Cushion defects lead to congenital defects in what structure? Will this cause early or late cyanosis? What must develop for cyanosis to occur via a right to left shunt?
anterior cerebral artery
This artery supplies the medial portion of the hemispheres
Aorta Coarctation
Presentation: Blood pressure discrepancy between upper and lower extremities.
What is the diagnosis?
distal to left subclavian artery
In aorta coarctation, where does the compression occur usually?
microvessel dilation
"Coronary Steal" phenomenon refers to a redistribution of coronary blood flow away from ischemic areas. Anatomically what is this due to? Pharmacologically, what drugs can achieve this?
Ataxia Telangiectasia
DNA repair
Combined Immune Deficiency
Hematologic Malignancy
Presentation: "Superficial blanching nests of distended capillaries"; Recurrent upper and lower respiratory infections; cerebellar ataxia.

What is the diagnosis?
What is defective?
What are the secondary diseases to this defect?
Vitamin A
A 10X overdose of what vitamin causes cirrhosis?
Viridans streptococci
This organism does the following reaction:
Dextrose=adherence to fibrin.
Thus, the organism lives at sites of trauma.
Purine Catabolism
What is Lesch Nyhan syndrome essentially a failure of?
hypochromic anemia
What toxicology inhibits Mitochondrial Fe2+ transport? How does this manifest?
Bare Lymphocyte Syndrome
A failure of HLA Class II expression on APCs
Sphingolipid catabolism
Niemann Pick disease is essentially a failure of what? What is the defective enzyme? Where does the metabolite build up?
Niemann Pick Disease
Hepatosplenomegaly. Anemia. Motor neuropathy. Cherry red macular spot. Early childhood death.
Acute Intermittent Porphyria
UP I Synthase/PB deaminase
Acute attacks of abdominal pain. Psychosis. Urine turns dark upon light exposure.
What is the diagnosis?
What is the defective enzyme?
Porphyria Cutanea Tarda
Uroporphyrinogen Decarboxylase
Uroporphyrinogen in urine. Mild photosensitivity.
What is the diagnosis?
What is the defective enzyme?
ALA dehydratase
Protoporphyrin IX
In the Heme Synthesis pathway, which enzymes are inhibited by Pb2+? What will build up?
ALA synthase
glucose heme
What is the rate limiting enzyme in Heme synthesis? What inhibits this enzyme?
Vitamin B6 pyridoxine
Regarding Heme synthesis, what is the cofactor for ALA synthase?
Regarding Heme synthesis, what activates the rate limiting enzyme ALA synthase?
ALA dehydratase
Regarding Heme synthesis, which enzyme contains zinc?
neural tube defects
Teratogenicity of Valproate
Ebstein anomaly
Teratigenicity of lithium
Ebstein anomaly
"Atrialized" right ventricle due to downward tricuspid valve displacement.
What defect?
What cause?
ACE inhibitor
Thiazide diuretic
1st dose hypotension occurs as a result of the vasodilative effect of the administered drug with the background hypovolemia from another drug. What is the administered drug? What is the background drug?
Down Syndrome
Duodenal atresia. What congenital disease?
Duodenal Atresia
On the 1st day of life a baby has bilious vomiting with NO ABDOMINAL DISTENTION. What is the diagnosis?
Bicuspid Aortic Valve
Turner Syndrome
What are the congenital associations with Aorta Coarctation?
Lead Time Bias
Study error: Patients seem to live longer only because disease is detected earlier by test method than by conventional method.
Lead Time Bias
Artificial increase in survival time among tested patients who actually have an unchanged prognosis.
Killed Vaccine
What type of vaccine is the Rabies vaccine?
Measurement Bias
Observer Bias
Study Error: Misclassification via mislabeling populations, etc
Inhibits intestinal folate absorption. Neural Tube defects.
Idiopathic Membranous Nephropathy
IgG4 anti PLA2R (m type).
What disease?
Regarding disease, which cells express this receptor?
IgG anti PLA2R
Idiopathic Membranous Nephropathy is the result of what auto antibody?
minimal change disease
Abnormal T cell production of a glomerular permeability factor causes foot process fusion.
Berger Disease IgA Nephropathy
Painless hematuria in a child/young adult 2-3 DAYS after an upper respiratory infection?
Post Streptococcal GlomeruloNephritis
Painless hematuria in a child/young adult 2-3 WEEKS after an upper respiratory infection?
Henoch Schonlein purpura
IgA Nephropathy in the context of extrarenal symptoms involving the skin and gi
Multiple Myeloma
renal disease b/c light chain deposition->cast nephropathy. Not amyloidosis.
What disease?
Mixed Cryoglobulinemia
IgM Glomerular Deposition
Hep C patient develops renal disease marked by:
-basement membrane thickening
-cell proliferation

What disease? How is it mediated?
anti centromere
Dysphagia and Sclerodactyly.
What disease?
How is it mediated?
Esophageal dysmotility
CREST is due to anti centromere antibodies.
What does CREST stand for?
Rheumatic Fever
IgM anti M protein
crossreacts with:
-Heart glycoprotein
-Joint glycoprotein
Rheumatic Fever
Joint paint + heart murmur.
What disease?
Acute Tubular Necrosis
Cyclosporine; Tacrolimus nephrotoxicity manifests as what? This is secondary to what?
AIDS patient being treated for CMV Retinitis develops severe neutropenia. What drug? What drug if already administered, would exclude prescription of this CMV drug (on account of being bone marrow suppressive)?
Pyrophosphate analog CMV Retinitis drug
AIDS patient being treated for CMV Retinitis develops seizures. What drug?
chelates Ca2+ (side effect)->Hypocalcemia
renal wasting (side effect)->hypomagnesemia
Low Ca2+ + Low Mg2+ = SEIZURE

What drug?
antiviral drug. Patient develops delerium and tremor.
What drug?
antiviral drug. Crystal nephropathy. Neurotoxic.
Protease Inhibitor
AIDS drugs. Fat redistribuition and insulin resistance.
K+ sparing diuretic
Triamterene is of what drug class? Where, anatomically, does it act?
Pulmonary Edema
What is the major danger of aggressive osmotic diuretic therapy?
Afferent arteriole or Efferent arteriol:
Preferential action by AT2 (vasoconstriction)
uric acid
Needle shaped. Negative birefringence w polarized light.
Procainamide can induce SLE-like syndrome. Will this involve the kidney?
amphotericin b
Drug of choice for mucormycosis
amphotericin b
A patient is taking an antifungal and develops normocytic normochromic anemia. What drug?
Ethacrynic Acid
What loop diuretic has the greatest ototoxicity? Loop diuretic ototoxicity is believe to by due to the presence of Na+K+2Cl- symporter in the ear. Usually ototoxicity occurs when used in conjunction with an aminoglycoside (someone with a UTI and Pulmonary Edema).
carbonic anhydrase
Enzyme needed for the production of aqueous humor
Acyclovir is nephrotoxic. It crystalizes when its concentration>solubility. What is the best pretreatment to prevent this from happening?
Pre-treatment in lymphoma and leukemia to prevent tumor lysis syndrome
Pre-treatment for Radiocontrast imaging studies. Decreases allergic reaction to radiocontrast.
What are the most COMMON side effects of loop diuretics?
proximal tubule
Where is carbonic anhydrase located in the kidney?
Proximal tubule
Where in the body is carbonic anhydrase located?
Multi chain complex T cell marker
CD14 TLR4 coreceptor
Monocyte; Macrophage marker
corpus callosum
A patient cannot retrieve an object with his right hand that he is palpating with his left hand. Where is the lesion?
X factor hematin
V factor NAD+
S. aureus
Haemophilus influenzae is a blood loving organism. It cannot be grown on sheeps agar however, unless it is in the presence of another organism. This organism is hemolytic. What nutrient does H. influenzae attain through the hemolysis of RBCs by this organism? What nutrient does H. influenzae attain directly from this organism? What is the organism?
cystic fibrosis
del F508=phenylalanine deletion at 508.