UWorld SA 1 Flashcards
What potentially serious complication (aside from fractures) is paget’s disease of the bone frequently associated with? How would this condition appear?
Osteosarcoma -> Persistent pain (in hip if femur etc.) that does not improve with NSAIDs.
Imaging: area w/ mixed lysis and sclerosis, w/ focal periosteal elevation and reactive new bone formation. Ossification of adjacent soft tissue in “sun-burst” pattern
What genetic consequence should be considered if a particular disease occurs in the offspring but is not apparent in the parents and negative family history?
Germline mosaicism
What is penetrance?
The extent of phenotypical expression of a mutated gene.
e.g. incomplete penetrance only sometimes produces symptoms in those w/ mutation
What is one of the most important prophylactic care-taking measures in diabetic patients (aside from blood sugar control)?
Daily foot inspection
What is the most common translocation in childhood B-cell ALL?
t(12;21)
What disorder consists of immature myeloid cells on blood smear, containing Auer Rods?
AML or subtype APL t(15;17)
What does a blood smear in CML look like?
numerous immature leukocytes with large basophilic nuclei and ground glass appearance of cytoplasm
Which cytokine is produced exclusively by lymphocytes? What effect does this have?
IL2 -> only by antigen stimulated T cells -> stimulates growth and differentiation of T cells, B cells, NK cells and macrophages
Which cells generate interferon-alpha (IFN-alpha)? What is the purpose of this compound?
Monocytes, macrophages, B cells, NK cells -> numerous antiviral functions -> viral replication inhibition, protection of uninfected cells from infection, stimulation of lymphocyte and NK cell cytotoxicity
A patient is injured in a sports accident that causes gross posterior displacement of the tibia relative to the femur, what is most likely injured?
Popliteal fossa traction -> damage to politeal artery
Tibial nerve is not subject to same level of traction forces, more likely to be destroyed in penetrating injury
A patient presents following giving birth with fever, uterine tenderness, foul smelling discharge and leukocytosis. What is the most likely causative agent?
Endometritis -> infection of endometrium -> bacteroides species most commonly isolated
What is the most common location for bicarbonate excretion in the digestive tract and how is this release stimulated?
S endocrine cells of duodenal mucosa release SECRETIN in response to increased duodenal acid -> stimulates bicarb release from exocrine pancreas and epithelial cells of biliary tract (bicarb, Cl- antiporter is responsible for this)
How do you differentiate acute stress disorder from PTSD?
They have similar symptoms and acute stress disorder becomes PTSD when symptoms persist for > 4 weeks
A probe is measuring blood flow towards the cardiac apex and detects a large peak of flow towards the probe. What does this represent and what sound would be heard here?
Diastolic filling of the heart -> could hear 3rd heart sound in patients with ventricular failure
A patient presents following an automobile accident with a chest XRay demonstrating diffuse, fluffy alveolar infilitrates. What is happening and what is the cause of this?
ARDS -> injury to endothelial cells lining pulmonary capillaries adjacent to the alveoli
What is pseudobulbar paresis?
Caused by conditions like MS -> dysarthria, dysphagia, dysphonia and impaired movement of tongue and facial muscles
What is the MoA of phentolamine? Pralidoxime?
Phen - competitive blockage of alpha-Receptors (good for excess Epi/NE)
Pral - Antidote to organophosphates -> it reactivates phosphorylated cholinesterases by removing phosphate groups (note: this drug only fxns if NMJ has been affected by organophosphate anticholinesterases)
What is methylphenidate? What would occur from drug toxicity?
Piperidine-derived medication -> stimulates cerebral cortex in a similar manner to amphetamines
Toxicity -> confusion, dry-mucous membranes, and mydriasis
Which cell receptors function by translocation to the nucleus?
Ligands binding cytoplasmic steroid, thyroxine or retinoid receptors
What enzyme deficiency leads to the most common type of porphyria?
Porphyria Cutanea Tarda (PCT, photosensitivity) is caused by a deficiency in URO decarboxylase which converts Uroporphyrinogen III -> Coproporphyrinogen III
How can you distinguish the symptoms of myasthenia gravis vs. Eaten Lambert syndrome?
MG -> associated w/ thymic mass (thymoma) and more weakness in facial, periocular, bulbar (mouth weakness) and pelvic gridle muscles.
E-LS -> associated w/ lung small cell carcinoma is much less common and presents w/ extremity weakness
What are the signs and features of complete androgen insensitivity syndrome?
X-linked disorder causing mutated testosterone receptors all over body -> resistant to androgens
46 XY male w/ a female phenotype (breasts, hairless, no penis/scrotum, & vagina ending in blind pouch -> NO uterus, fallopian tubes, or upper vagina), cryptorchid testes in abdomen, inguinal canal or labia majora
Which drug can provide long term relief for excess catecholamine surge (as w/ pheochromocytoma)? Short term?
Phenoxybenzamine has a very long half life (1 day) and can provide relief of symptoms for a few days.
Prazosin -> half life of 3 hours, relief for 1 day
Phentolamine half life is 20 minutes -> short relief
A patient being treated for ventricular arrythmias presents w/ dyspnea, cough, chest pain. PE revelas bilateral inspiratory crackles and CXR reveals patchy areas of interstitial inflammation. What is most likely the cause of this?
Amiodarone -> can cause inflammation and fibrosis of pulmonary interstitium and can become chronic condition of interstitial pneumonitis (slow progressing dyspnea and nonproductive cough)
What are the main side effects of Sotalol? Diltiazem?
Sot -> Torsade de pointes, excess beta blockade (bradycardia and hypotension)
Diltiazem -> Bradycardia, decreased myocardial contractility, flushing, hypotension, GI disturbances
What process is responsible for anchoring plasma membrane spanning proteins (like G-prot) to the inner cytoplasmic membrane?
Palmitoylation -> links fatty acids covalently to cysteine residues -> many G-prot coupled receptors have carboxyl tails palmitoylated on cystein residues
What is variable expressivity?
variations in phenotypic severity of a disease between individuals with the same exact gene mutation
What is allelic heterogeneity? Give an example of this.
Different mutations in same gene locus cause similar phenotypes.
e.g. Duchenne Muscular dystrophy has mutation in dystrophin gene causing complete loss of fxn, while Becker MD has dystrophin mutation that results in structurally abnormal but partially functioning dystrophin gene produc
What are the features of hemochromatosis and at what age do patients with this condition usually present?
40s (when about 20 grams of iron have accumulated) -> Liver disease (hepatomegaly), Dermal hemosiderin deposits (skin hyperpigmentation, “strange tan”), Pancreatic islet cell destruction (diabetes), Impotence and cardiac dysfunction
Which bacteria can cause impetigo?
Group A strep (pyogenes) and Staph Aureus