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Becker's vs. Duchenne's in terms of gene alterations
- Becker's: in-frame deletions/insertions (altered protein made)
- Duchenne's: frameshift deletions/insertions (truncated protein as a stop codon is found)
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Abetaliproteinemia - mutation in what gene?
- Microsomal TG transfer protein (MTP)
- Low cholestrol and vitamin E levels
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How is paternity test confirmed?
Using PCR probes that amplify microsatellite repeats
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Pap smear of Chlamydia trachomatis
Large cytoplasmic vacuole with reticulate bodies in epithelial cells
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Aprepitant
- NK-1 antagonist
- Treats nausea post-leukemia conditions
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Patient has abdominal pain and diarrhea, but presents with dark urine and gram (-) rods as well as mixed flora in the urine sample. Abdominal dz?
- Crohns
- Enteric fistula into the bladder causes mixed flora presence.
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Where does PTH act on the kidney?
- PCT: inhibits Na+/PO4 cotransport causing PO4 excretion
- DCT: increases Na+/Ca++ exchange - increases Ca+2 absorption
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Heart defect found in Cri-du-chat syndrome
VSD
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Why can tricyclic antidepressants be used to treat Parkinson's?
- Anti-cholinergic side effects of TCA
- (Parkinsons have decreased dopamine and increased Ach)
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Dx test for primary syphilis
Dx test for secondary syphilis
Dx test for tertiary syphilis
- Darkfield microscopy
- VDRL which can be followed with an FTA-ABS (both will be positive)
- FTA-ABS (VDRL may be negative)
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Schwann cell (myelinates a single axon)
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Oligodendrocyte (myelinates multiple axons)
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Neurotransmitter released by methamphetamines which gives you a "high"
Inducing dopamine release (central affect)
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Therapy for Wilson's disease
- Penicillamine
- Trientine (better tolerated, less AE
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Initial event in the pathogenesis of pre-eclampsia
- Placental ischemia
- Toxemia:
- 1)HELLP syndrome
- (hemolysis, elevated liver enzymes, low platelets)
- 2) DIC-mediated ischemic damage to the brain
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Action of cyclophosphamide
- Covalently crosslinks DNA at the guanine site
- (bioactivation by the liver)
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Urine metabolites of carcinoid syndrome vs. pheochromocytoma
- 5-hydroxy-indoleacetic acid
- VMA
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How does brown adipose tissue produce heat in a newborn?
Uncouples oxidative phosphorylation with thermogenin
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Undescended testes, what peptide hormones are decreased and elevated
- Testes are not in the scrotal sac, hence, seminiferous tubules become atrophied.
- Inhibin levels decrease (Sertoli cells secrete inhibin) and FSH levels increase
n.b. 2nd sexual characteristics and sexual drive are not affected, as Leydig cells are not damaged.
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What recognizes stop codons in mRNA (UAA, UGA, UAG)
- Releasing factors
- release the polypeptide chain from the ribosome and disassemble the unit
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How can plaque stability be reduced to cause a MI?
- Inflammatory macrophages secrete metalloproteinases, which degrade collagen
- Plaque stability: collagen synthesis that strengthens the fibrous cap
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Superior thyroid artery injury can damage what nerve, and will cause what affects?
- Superior laryngeal nerve (branch of vagus)
- Affects cricothyroid and sensory innervation ABOVE the vocal cords
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Which kidney stones are not seen on an x-ray?
Uric acid (radioluscent)
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Positive VDRL and pleocytosis are diagnostic of what stage of syphilis
- Tertiary (neurosyphilis)
- Gummas
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What has happened to a patient who has renal disease after a coronary angioplasty?
- Cholestrol gets pushed from the larger arteries and enters the smaller vessels causing ischemia of other tissues
- Also: livedo reticularis (skin colour changes in lower extremities), cholestrol deposits in the retina
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Most common cause of fetal hydronephrosis
- Inadequate recanalization of the uteropelvic junction
- (ureters should be fully canalized (lumenized)before metanephros works
n.b. inadequate development of vesiculouteral junction can cause hydronephrosis in a BABY
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Folate deficiency inhibits the formation of what molecule?
- dTMP
- Inhibits DNA synthesis, promotes megaloblastosis and erythroid precursor cell apoptosis
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Characteristics of a drug whose bioavailability = 4L (i.e. remains in the plasma)
- Large molecular weight
- Highly bound to protein
- Highly charged (hydrophilic)
these prevent it from diffusing across the interstitial membrane or cell membranes and having a higher Vd of the interstitial volume
n.b. Vd is not related to the distribution of the drug
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What factor mediates the following sx: fatigue, anemia, anorexia, presence of a cancer
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What drug is superior to ASA in vasodilating and inhibiting platelet aggregation
Cilostazol
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Which kidney stone can be detected by the cyanide-nitroprusside test?
- Cystinuria
- Cyanide converts cystine to cysteine and then nitroprusside binds to cysteine, causing a red-purple urine
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Decreased LPL (lipoprotein lipase) activity will increase what lipid? Presentation
- TG
- Most common presentation = acute pancreatitis
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What process is altered by DNA methylation (alters gene expression but not the genetic sequence?
Imprinting
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Process when one gene influence has multiple phenotypic affects
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chromosomal non-disjunction during meiosis or mitosis
aneuploidy (e.g. down syndrome)
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A test has a 95% specificity (test is negative for patients who don't have prostate cancer). What is the probability of getting at least 1 positive test result if you run 8 tests?
- 1-0.95^8
- (0.95^8 = being TN all 8 times)
- (0.05^8 = being TP all 8 times)
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How does radiation initiate cell death to treat cancer?
- 1. DNA ds breaks
- 2. formation of free radicals
- Affects rapidly dividing cells (cancer cells) + rapidly dividing ones (bowel and skin)
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Thrombus extraction followed by a rapid surge of CK. Dx?
- Reperfusion injury
- Occurs secondary to oxygen free radical perfusion, inflammation, mitochondrial damage
- CK levels increase due to cell membrane damage
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Penicillins inhibit transpeptidase. What is the enzyme's normal function?
Transpeptidase will catalyse final cross-linking step in the PG cell wall formation = joins AA to the terminal D-ala-D-ala end of another PG
Penicillins are analogs of D-ala-D-ala, which inhibit TP by binding covalently to its active site
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Abdominal aortic aneurysm starts off as what process?
- Artherosclerosis
- Intimal fatty streak (lipid-filled foam cells derived from macrophages and smooth muscle, which have engulfed lipoproteins esp LDL)
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Vancomycin's red man syndrome is mediated by what factor
Histamine
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Niacin's flushing and warmth is mediated by what factor
- Prostaglandin
- (side tx = aspirin)
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TSST-1 molecules
T cells (IL-2) and macrophages (IL-1 and TNF)
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Renal veins and common iliac veins join the IVC at what level?
- Renal veins: L1/L2
- Common iliac veins: L4
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Syphilis can produce thoracic aortic aneurysms. What is the first step in manifestation?
Vaso vasorum obliteration
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Development of a vaccine to target gonocccal pili, but cannot induce long-lasting immunity. Why?
Antigenic variation (pili genes undergo recombination)
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High frequency sounds are located at what part of the ear
Oval window, round window, stapes, basilar membrane
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Low frequency sounds are heard at what part of the ear
scala vestibuli, scala tympani, helicotrema
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Common adverse effect of streptokinase
when given for a MI and patient later has asymmetric pupils, and irregular bleeding
- converts plasminogen to plasmin, which degrades fibrin.
- can cause hemmorhage
intracerebral hemorrhage
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Location of unilateral hearing loss
Location of bilateral hearing loss
- U/L = cochlear nerve
- B/L = damage of stereociliated cells at the organ of Corti
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What enzyme converts pro-carcinogens to carcinogens?
- cytochrome P450 monooxygenase
- (also metabolizes steroids, alcohol, toxins making it more soluble and easier to excrete)
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Li-fraumeni syndrome associated with what cancers?
- Breast
- brain
- adrenal cortex
p53 mutation
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Rb gene associated with what cancers
- retinoblastoma
- osteosarcoma
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Hyper-TG most efficient tx
Niacin and gemfibrozil
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Progesterone has what affect on the endometrial cells, and withdrawal causes what
- Maintenance during the luteal phase, growth of endometrial stromal cells into decidual cells
- Apoptosis
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complications of varicose veins
- venous stasis/congestion
- superficial venous thrombosis
- skin ulcerations (most common on the medial malleolus)
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mechanism of Candida overgrowth in the vagina
- use of broad-spectrum Abx suppresses the gram (+) bacterial overgrowth
- others: OCs, corticosteroids, uncontrolled DM
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what CMV disease is seen in immuno-competent patients and in HIV patients
- Mononucleosis: atypical lymphocytes, elevated liver transaminases, heterophile Ab (-)
- Retinitis
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Hemangiomas that appear in newborns and regress spontaneously by 5-8 years of life.
Strawberry hemangiomas
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Dilation of central arterole and capillary network
- Spider angioma
- Estrogen-dependent
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Proliferation of capillaries and postcapillary venules in the dermis
- Cherry hemangiomas
- do not regress spontaneously; increases with age
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1st adverse effect of ACE inhibitors
- 1st dose hypotension
- n.b. be careful with diuretics (as hypovolemic, hyponatremic)
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Riboflavin (B2) works in what step of the TCA cycle?
- FAD/FADH
- with succinate DH
- conversion of succinate to fumarate
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Adult-type coarctation of the aorta patients commonly die of what conditions
- Increased BP proximal to the coarct
- Ruptured aortic aneurysm and intracranial hemorrhage and LVF
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Sensation of a full bladder, no voiding, blood at the urethral meatus, high riding boggy prostate is associated with what urethral injury?
- Posterior urethra associated with a pelvic fracture
- (anterior urethral injuries occur in straddle injuries)
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Protein that binds to integrin, collagen, and GAG
- Fibronectin (glycoprotein) made by fibroblasts
- fx: cell adhesion and migration
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