UWorld QBank - 2nd Round - part 2 Flashcards
What molecular process can lead to genetic imprinting?
DNA methylation -> silence gene
What does pure motor weakness of arm/leg and contralateral lower face, and clasp-knife spasticity indicate?
Clasp knife -> UMN lesion
Weakness -> infarct of motor tracts of opposite side
-INTERNAL CAPSULE INFARCT
What feature of Grave’s disease will not improve with beta-blocker treatment and why?
Exophthalmos - because this is caused by increased soft tissue mass in the bony orbit due to enlargement of ocular muscles (myositis), fibroblast proliferation, and overproduction of ground substance in response to antithyroid Abs
What would result from a deficiency in carnitine?
Decreased ability for fatty to enter mitochondria for beta-oxidation -> decrease acetyl CoA -> decreased acetoacetate
What is another name for lactose? What does this molecule get converted to in the body?
Galactosyl-beta-1,4 -glucose -> converted to galactose by beta-galactosidase
Which dimorphic fungus forms single broad-based buds and multicellular structures with branching tubular cells? Which areas is it endemic in?
Blastomyces dermatitidis - Ohio/Mississippi river valleys, great lakes
What is Tardive dyskinesia? When is it most likely to occur, and from which substance?
- Involuntary perioral movements (biting, chewing, grimacing, and tongue protrusions)
- Possible choreathoid movements of head, limbs and trunk
- 4 months-4years treatment (mbe irreversible)
- Risperidone (atypical AP)
What is acute dystonia and when is it most likely to occur? How can you treat?
Muscle spasms, sustained upward eleveation of eyes
-4 hours - 4 days of AP tx
Tx: antihistamines (diphenhydramine) or anticholinergics (benztropine & trihexyphenidyl)
What are the 3 specific actions of vWF?
Released by Weibel-Palade bodies in endothelium:
- Binds exposed subendothelial collagen, facilitating cross-linking with platelet glycoproteins (Gp1b)
- Facilitates platelet aggregation, under high shear stress situations
- Protective protein carrier for factor VIII
What would result from impaired formation of N-acetylglutamate?
N-ag activates Carbamoyl phosphate synthetase I to make Carbamoyl phosphate from CO2 NH4+ and 2 ATP
Deficiency of n-ag would result in increased ammonia and decreased urea production
What problem occurs with Vit. Deficiency?
Marked decrease in absorption of both calcium and phosphorous -> PTH will increase (PTH also increases urinary phosphorous excretion)
What is the main deficiency in dilated cardiomyopathy?
Decreased ventricular contractile force
Which situations lead to diastolic cardiac dysfunction?
Diastolic dysfxn most often from hypertensive heart disease -> concentric ventricular hypertrophy -> poor ventricular wall compliance
A patient with pulmonary mass complains of shoulder pain, persistant hiccups and dyspnea, which nerve is affected and from where does it arise?
Phrenic Nerve -> leads to respiratory distress on affected side and elevation of hemidiaphragm
Nerve roots C3-C5
What does failed carboxylation of glutamate residues of newly synthesized proteins in the liver indicate? Which patients are at risk of this?
Vitamin K deficiency - > (V. K is essential for hepatic microsomal carboxylases that convert glutamyl residues into gamm-carboxyglutamates) -> critical step for functioning of clotting factors VII, IX, and X, and activation of protein C and S
Neonates (limited hepatic reserve, poor intestinal flora, limited BA of VK in breast milk), Liver disease, Antibiotic use (destroys intestinal flora), malabsorption syndromes
How would serum values be affected in patients with inhaled-anesthetic hepatotoxicity?
ACUTE LIVER INJURY
1. increased PT (because def. of factor VII which has shortest half life)
2. increased aminotransferase levels
3. Leukocytosis + Eosinophilia (immune reaction)
(albumin + other clotting factors not affected because they have longer half-lives)
What is the difference between empathy and support?
Empathy requires the doc to walk in patient’s shows, e.g. “I can imagine how hard this must be.”
With support, doc does not claim to personally understand how the patient feels, “Yes you were really hurt by this incident”
What are the characteristics of signet-ring gastric carcinomas? Intestinal type adenocarcinomas?
Signet- Mucin containing cells, DIFFUSE involvement of stomach wall -> linitis plastica
Intestinal - resembles colon cancers, nodular, polyploid well demarcated masses (glands and columnar cells seen)
What condition causes rugal thickening with acid hypersecretion?
Zollinger-Ellison Syndrome
What is a comedocarcinoma?
Subtype of Ductal Carcinoma In Situ (DICS) of the breast with high grade cells in ducts, no basement membrane invasion and dystrophic calcification in center of ducts (necrosis)
What are the characteristics of a medullary carcinoma of the breast?
Solid sheets of vesicular, pleomorphic, mitotically active cells with significant lymphoplasmacytic infiltrate (around and w/in tumor) and a pushing, non-infiltrating border
What is the most common cause of spontaenous lobar hemorrhages (especially in >60 age group)? Where/how do these hemorrhages arise?
Cerebral amyloid angiopathy - spontaneous recurrent hemorrhages often in parietal/occipital lobes
How can you differentiate charcot-bouchard aneurysms from other pathologies that cause intracerebral hemorrhage?
- Due to chronic HTN and involves deep brain structures (basal ganglia, thalamas, cerebellar nuclei, pons)
vs. Cerebral amyloid angiopathy -> causes lobar hemorrhages (parietal, occipital) or Saccular Berry aneurysms -> SAH in circle of willis
What is the most common urea cycle deficiency and what is it associated with?
Ornithine transcarbamoylase (OTC) deficiency -> will have build up of ammonium and Carbamoyl phosphate, and increased urine orotic acid
What are the characteristics of carbamoyl phosphate synthase deficiency?
Increased ammonia -> neuro disorders
-Low levels of carbamoyl phosphate and no elevation in urine orotic acid
What carcinoma is associated with African children who have EBV infection? How does this appear and what leads to its development?
Burkitt Lymphoma -> intermediate sized lymphocytes with round nuclei and multiple prominent nucleoli, and vacuolated basophilic cytoplasm. High mitotic index and cell death rate. Diffuse macrophage distribution and “Starry Sky” appearance from debris clean up.
-t(8;14) of C-MYC oncogene to Ig Heavy chain -> TRANSCRIPTION ACTIVATOR
What results from a t(11;14) translocation?
Mantle Cell Lymphoma - Cyclin D from 11 moved to Ig heavy chain -> promoter of G1->S transition
What is the purpose of the GLUT2 transporter?
Export of glucose from liver, small intestine, and kidney into circulation and helps to control insulin secretion from the pancreas
What are they key side effects of Amiodarone and how are some of these treated?
- Thyroid dysfunction (check TSH!) -> If hypothyroidism is induced, Tx w/ Levothyroxine
- Corenal micro deposits
- Blue gray skin
- Hepatitis
- Pulmonary fibrosis (can be life threatening)
What will be seen in a peripheral blood smear of a patient with bacterial meningitis -> sepsis?
Schistocytes from DIC
When are bite cells seen?
G6PD deficiency - splenic monocyte-macrophage system removing Heinz bodies from RBCs
What are the characteristics of X-linked agammaglobulinemia (Burton’s)?
- Mutation in Burton Tyrosine Kinase -> failure of bone marrow pre-B cells (CD19, CD20) to develop
- Low or absent B cells in peripheral blood
- pan-hypogammaglobulinemia -> increased risk of infxn w/ pyogenic (encapsulated) bacteria
- Susceptibility to enterovirus and Giardia lamblia (because no neutralizing/opsonizing Abs)
What are the regulatory pathways of the renin-angiotensin system?
- Macula Densa
- Intrarenal baroreceptors (respond to low pressure)
- Beta-adrenergic receptors in juxtaglomerular cells (beta-blockers like Propranolol will inhibit renin-AT system)
What facilitates glycogenolysis in muscle cells?
- Increased Calcium activates phosphorylase kinase to promote glycogen breakdown and glucose release (occurs with every muscle contraction)
- Increased cAMP only promotes glycogenolysis in response to Norepinephrine release (fight or flight action)
What leads to scalded skin syndrome?
Exfoliation exotoxin released by Staph. Aureus -> epidermolytic agents cleave desmoglein in desmosomes
How long is it typically required to have increased levels of serum beta-hcg following ovulation? Urine hcg?
Serum - 8 days post ovulation (1 IU/L)
Urine - 14 days post ovulation (20 IU/L)
How do you diagnose endogenous Cushing syndrome? What do the results from this test indicate?
Measure ACTH and cortisol levels + dexamethasone suppression test
- High cortisol and high ACTH indicate ectopic secretion of ACTH (vs. primary adrenal disease)
- If pituitary tumor -> reduction of Cortisol/ACTH from high dose dexamethasone
- If nonpituitary tumor -> resistant to dexamethasone
- Adrenal adenoma/carcinoma also resistant to dexamethasone (no change in low ACTH and high cortisol levels)
What are neurophysins?
Carrier proteins for oxytocin and vasopressin in posterior pituitary
What is beta-hydroxybutyrate?
Marker of insulin deficiency -> present in Type I diabetes mellitus
What is the MoA of flucytosine?
Inhibits DNA/RNA synthesis in Fungi
What will be greatly diminished on a molecular level if someone is deprived of folic acid? How can you circumvent this?
Folate is necessary for the de novo synthesis of dTMP by Thymidylate synthase.
Tx: By supplementing thymidine -> activate dTMP salvage pathway that uses Thymidine Kinase which will partially compensate for defective de novo synthesis
What process would lead to inflammation and partial necrosis of gall bladder wall? What is the risk of this condition?
Gall bladder outflow obstruction from stone -> Acute calculous cholecystitis (#1 complication of cholelithiasis)
Stone disrupts mucosal barrier -> epithelium damaged by bile and prostoglandins released -> inflammation, distension, ischemia -> necrosis -> final: bacterial invasion
What are myoclonic seizures and how best to treat? What should you NOT use?
Usually adolescent as part of JME -> brief, involuntary, jerking movements of upper extremity, with no loss of consciousness. Often soon after waking up.
Generalized epilepsy -> broad spectrum anticonvulsant -> Valproic acid (also lamotrigine, levetiracetam, topiramate)
DO NOT use Narrow spectrum anticonvulsants (Carbamazepine, Gabapentin, phenobarbital, phenytoin) as these may exacerbate symptoms.
What is the growth process of strawberry hemangiomas?
First increase with size as child grows, and then fade between 1-3 years of age, most are fully regressed by age 7
What is the main side effect of metronidazole? What is this drug usually used to treat?
Disulfiram like reaction -> inhibits alcohol oxidizing enzymes -> acetylaldehyde builds up -> flushing, headache, nausea+vomit with consumption of alcohol
Tx for Giardiasis, Trichomonas vaginitis, and bacterial vaginosis
What is a koilocyte?
Immature squamous cell with dense cytoplasma and halo + small vacuoles around a large nucleus -> sign of infection with HPV
Which lipid lowering drug can causes gouty arhtritis?
Niacin -> Hyperuricemia
What occurs from high levels of prolactinoma?
Galactorrhea and GnRH suppression -> Hypogonadism, anovulation, amenorrhea
Low estrogen -> Bone loss and vaginal dryness
What results from V. A and E toxicity?
A - acute: nausea/vomiting and vertigo; chronic: alopecia and dry skin, hyperlipidemia, hepatotox and visual problems (also a teratogen)
E - hemorrhagic stroke in elderly, and necrotizing enterocolitis in infants; hemolytic anemia
What is a method of providing anesthesia for a woman in labor if epidural cannot be done? How is it administered?
Pudendal nerve block - start intravaginally and inject lidocaine near the tip of the ischial spine (pudendal nerve is from S2-S4 and give sensory innervation to genitals and perineum and motor control of sphincter urethrae and anal spincter)
What are the first generation anti-histamines and their effects?
Chlorpheniramine and diphenhydramine - anti-histamine +
Anticholinergic -> pupillary dilation, dry mouth, urinary retention, constipation
Anti-alpha -> hypotension, postural dizziness
Anti-Serotonin -> appetite stimulation and weight gain
A patient develops vomiting and lethargy after 1 full day of fasting, and develops seizure after arriving to the hospital. Physical exam shows a mildly enlarged liver. What is deficient in this patient? What serum values would be present?
Acetyl-CoA dehydrogenase -> after 16-24 hrs tissues depend on lipid derived fuels for energy. Without this enzyme, first step of beta-oxidation of fatty acids cannot occur
Serum ketones would be low and blood glucose low (can’t undergo gluconeogenesis without energy)
What is characteristic of osteoclasts in paget’s disease of the bone? What Factors are most important for differentiation and development of these cells?
Very large w/ up to 100 nuclei and positive for tartate-resistent acid phosphatase
Factors -> M-CSF (macrophage colony stimulating facotr) and RANK-L
Which solute is crucial for generating a high concentration gradient in the nephron in response to vasopressin, and where in the nephron does this occur?
ADH -> acts on V1 and V2 receptors in the collecting duct, and greatest concentration of urine occurs in the MEDULLARY collecting duct because of increased passive UREA transporters in this region (other areas of collecting duct, DCT and thick loop of Henle are impermeable to Urea)
What is the best medication for women with PCOS getting treated for infertility? For hirsituism and acne?
Clomiphene - Selective estrogen receptor modulator -> prevents negative feedback inhibition on hypothalamus by circulating estrogen -> increased FSH and LH -> ovulation
Spironolactone -> androgen receptor antagonist