Miscellaneous Flashcards

1
Q

What are the start and stop codons for protein synthesis?

A

Start: AUG

Stop: UAA, UAG, UGA

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2
Q

Which histones make up the nucleosome core?

A

8 histone proteins (2 molecules of each H2A, H2B, H3, and H4)

H1 is outside the histone care and helps package nucleosomes into more compact structures by binding and linking the DNA between adjacent nucleosomes.

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3
Q

Blinding in a clinical study prevents what type of bias?

A

Observer bias.

Prevents patient or researcher expectancy from interfering with an outcome.

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4
Q

Osteocytes are connected to eachother due to what cellular structure?

A

Gap Junctions

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5
Q

H. pylori antral gastritis is associated with the formation of what?

A

DUODENAL ulcers.

unchecked gastrin production due to destruction of somatostatin-secreting cells in the gastric antrum

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6
Q

Adenomatous polyps are premalignant to colon cancer. What enzyme activity has been found to be increased in colon adenocarcinoma? what medication can be used as a preventative?

A

COX-2 increased

prophylactic aspirin

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7
Q

young Pt (age 3-10) presents with marfanoid habitus, ectopia lentis, and developmental delay at increased risk of experiencing thromboembolism. What disease are you thinking? How can you treat it?

A

Homocystinuria caused by cystathionine synthase deficiency

treat with pyridoxine (vitamin B6) which is a cofactor for cysteine synthesis. Also diet restriction of methionine

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8
Q

What is the unit of analysis in ecological studies vs something like cross-sectional studies?

A

Ecological looks at populations

Cross-sectional looks at individuals

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9
Q

What is lead time bias?

A

artificial increase in survival time among tested patients who actually have an unchanged prognosis.

Patients screened with more sensitive tests appear to live longer only because the disease was detected earlier than it would have been if diagnosed clinically

should always be considered when evaluating any screening test

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10
Q

Who is covered under Medicare?

A

65 and older as well as young individuals with disabilities

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11
Q

What is the function/consequence of organophasphate poisoning?

A

Organophosphates are cholinesterase inhibitors (increase amounts of ACh available to bind receptors). Sx’s include salivation, lacrimation, diaphoresis, bradycardia, and bronchospasm.

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12
Q

In CREST syndrome what does each letter stand for?

Why do pt’s experience letter E?

A

Calcinosis, Raynauds, Esophageal dysmotility, Sclerodactyly, Telangiectasia

Esophageal dysmotility is a result of atrophy and fibrous replacement of the muscularis in the lower esophagus. The esophageal body and the lower esophageal sphincter become atonic and dilated, resulting in symptoms of gastroesophageal reflux (heartburn, regurg, dysphagia)

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13
Q

What makes up the meningococcal vaccine?

A

capsular polysaccharides from major serotypes of N. meningitidis and induces production of protective anticapsular antibodies.

quadrivalent vaccine is made from outer polysaccharide capsule

conjugate vaccines (better longer lasting protection) are made from capsular polysaccharide antigens individually conjugated to diptheria toxoid protein.

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14
Q

How would you treat cerebral toxoplasmosis?

A

pyrimethamine and sulfadiazine (or pyrimethamine and clindamycin if sulfa allergy)

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15
Q

Which biochemical processes (pathways) occur in the mitochondria vs the cytosol?

A

Beta-oxidation of fatty acids, TCA, and carboxylation of pyruvate (gluconeogenesis) all occur in mitochondria

Glycolysis, fatty acid synthesis, and PPP are in cytosol.

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16
Q

What is transketolase/what does it do?

A

enzyme in PPP uses thiamine (B1) as cofactor to shuttle 2-carbon fragment between sugar molecules

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17
Q

What are the exceptions to the patient confidentiality rule?

A

suspected child or elder abuse

knife or gunshot wounds

dx of reportable communicable disease

patient risk of physically harming self or others

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18
Q

What is the most common cause of calcium kidney stones?

A

Idiopathic hypercalcuria: normal serum calcium levels wit increased urine calcium

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19
Q

Myopathy, nervous system dysfunction, lactic acidosis, and ragged red fibers on muscle biopsy are indicative pf what?

A

Mitochondrial dysfunction (transmission through affected mother’s never through dad)

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20
Q

which auto recessive condition is most often caused by lipoprotein lipase deficiency?

A

familial chylomicronemia syndrome

presents in childhood with hypertriglyceridemia, recurrent pancreatitis, lipidemia retinalis (milky appearing retinal vasculature), and eruptive xanthomas

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21
Q

What is responsible for the green color in pus and sputum of bacterial infections?

A

Neutrophil myeloperoxidase.

It is a blue-green heme-based enzyme that is released from neutrophil azurophillic granules and forms hypochlorus acid (bleach)

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22
Q

Where do the great majority of gastric ulcers occur? which arteries are at risk of involvement?

A

Lesser curvature, at the border between acid-secreting and gastrin-secreting mucosa.

The left and right gastric arteries run along the lesser curvature and are likely to be penetrated by ulcers, causing gastric bleeding

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23
Q

The superficial and deep inguinal rings are opening in what tissues?

A

external abdominal oblique aponeurosis and transversalis fascia respectively.

Surgical repair of an undescended teste lodged in the inguinal canal involves reducing the testis through the superficial inguinal ring and fixing it in the scrotum (orchiopexy)

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24
Q

If you have a diabetic on an ACE inhibitor for HTN that subsequently develops a cough and can no longer tolerate the med, what medication should you consider switching them to first?

A

An ARB will have hemodynamic effects similar to ACE inhibitor without the cough and provide same long-term renovascular benefits

(ARBs = -sartan. losartan, valsartan etc)

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25
Q

Child less than 2 years old with intermittent, severe, colicky abdominal pain, “currant jelly” stool. What dx?

A

Intussception (usually in the region of the ileocecal calve)

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26
Q

Depression, fatigue, hypersomnia, hyperphagia, and vivid dreams are characteristic of withdrawal from what?

A

stimulants such as cocaine or amphetamine

“crash”

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27
Q

Kayser-fleischer rings are dx of what dz? what is the associated gene and inheritance pattern? what are other associated sx’s and lab findings?

A

Wilson disease Auto Rec ATP7B gene mutation results in impaired cellular transport of copper.

decreased copper incorporation into ceruloplasmin and reduced biliary copper excretion leads to toxic copper accumulation in liver, brain, and eye. (parkinsonism, mental changes impulsivity)

Labs: elevated transaminases and low serum ceruloplasmin

Tx: penicillamine

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28
Q

Diabetic with sudden onset painless and permanent monocular blindness is due to what? What is seen on fundoscopic exam?

A

Central retinal artery occlusion.

see pale retina with “cherry-red” macula

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29
Q

What cells are predominant in sarcoid granulomas?

A

CD4+ T helper cells

intraalveolar and interstitial accumulation of CD4+ Tcells in sarcoidosis often results in high CD4+/CD8+ Tcell ratios in bronchoalveolar lavage

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30
Q

Inheritance pattern of NF-1? what chromosome?

A

Auto Dom ch. 17 NF1 gene

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31
Q

HIV pt CD4 count <50 presents with fever, weight loss, diarrhea, and elevated alk phosph and lactate dehydrogenase. Marked hepatosplenomegaly, PPD negative. What is most likely infection? How can it be prevented?

A

MAC (treated with clarithromycin or azithromycin in combo with rifabutin or ethambutol)

Prevention/prophylactic weekly azithromycin

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32
Q

During skeletal muscle contraction calcium is released from the sarcoplasmic reticulum and binds what?

A

binds troponin C, thereby allowing the binding of actin and myosin

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33
Q

What results from a failure of obliteration involving the omphalomesenteric duct?

A

enterocysts and meckel diverticula

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34
Q

A child presenting with MSUD (irritability, dystonia, poor feeding, and “maple syrup” urine within first few days of life) should have dietary restrictions to what?

A

branched chain amino acids (leucine, isoleucine, and valine)

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35
Q

Down syndrome is most commonly caused by Trisomy 21 but it is sometimes caused by an unbalanced Robertsonian translocation. What is this karyotype?

A

46 XX or XY t(14;21)

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36
Q

What is systemic mastocytosis and what is it characterized by?

A

Abnormal proliferation of mast cells and increased histamine release. (mutations in KIT receptor tyrosine kinase)

histamine causes hypersecretion of gastric acid, hypotension, flushing, pruritis, and diarrhea

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37
Q

When giving Norepi IV NE extravasation can happen resulting in vasoconstriction and necrosis. How is this best prevented?

A

local injection of an alpha 1 blocking drug (like phentolamine)

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38
Q

Gastrojejunostomy will result in lifelong supplementation of what? why?

A

Iron

Iron absorption occurs predominantly in the duodenum and proximal jejunum. Bypass of this segment of small bowel results in iron deficiency anemia

Malabsorption of B12, folate, fat soluble vitamins, and calcium may also be observed.

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39
Q

Symptoms of Vit A toxicity include?

A

Intracranial HTN, skin changes, and hepatsplenomegaly

pt presents ; HA, vomiting, papilledema, dry skin, and hepatosplenomegaly

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40
Q

What area of the GI tract is always effected in Hirschprungs? What is the reason for this dz?

A

rectum

abnormal migration of neural crest cells

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41
Q

Homeobox genes encode what?

A

DNA-binding transcription factors for segmental organization of embryo along cranio-caudal axis

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42
Q

MOA of fibrate therapy?

A

fibrates lower triglyceride levels by activating peroxisome proliferator-activated receptor alpha, which leads to decreased hepatic VLDL production and increased lipoprotein lipase activity.

fish oil supplements containing high concentrations of omega-3 fatty acids lower triglycerides by decreasing production of VLDL and apolipoprotein B.

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43
Q

Why is valproate contraindicated in pregnancy?

A

It interferes with folate metabolism and its use, particularly in first trimester, and significantly increases risk of Neural Tube defects.

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44
Q

Infant presenting with intestinal obstruction (due to compression by fibrous bands) and midgut volvulus ( intestinal ischemia) is probably due to what?

A

Intestinal malrotation (midgut undergoes incomplete embryological counterclockwise rotation.

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45
Q

Which anti-seizure med is known to cause gingival hyperplasia? MOA behind this side effect?

A

Phenytoin

Phenytoin causes increased expression of platelet derived growth factor (PDGF). when gingival macrophages are exposed to increased PDGF they stimulate proliferation of gingival cells and alveolar bone. reversible when drug withdrawn

Phenytoin toxicity mainly affects the cerebellum and vestibular system, causing ataxia and nystagmus

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46
Q

What type of receptor is affected in CF?

A

CFTR is an ATP-binding cassette protein. opens after binding 2 ATP allowing transport of chloride down it’s electrochemical gradient

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47
Q

SSRIs are better tolerated than TCAs but have what unwanted side effect that should always be asked about when seeing a pt on an SSRI?

A

Sexual dysfunction

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48
Q

MOA/indication for Terbinafine?

A

inhibits synthesis of fungal membrane ergosterol by suppressing the enzyme squalene epoxidase

Used to tx dermatophytosis (fungal skin infection)

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49
Q

What bony landmark is used when administering a lumbar puncture?

A

Iliac crests

L4 vertebral body lies on the line between highest points of the iliac crests. Want to inject between L3-L4 or L4-L5.

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50
Q

What is the most abundant amino acid in collagen?

A

Glycine.

the triple helical conformation of collagen molecules occurs due to the repetitive amino acid sequence within each alpha cahin, in which glycine occupies every third amino acid position (Gly-X-Y)

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51
Q

CNS cell that comes in to clean up 3-5 days after cerebral infarct?

A

microglial cells. (phagocytes)

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52
Q

MOA of zidovudine?

A

competitively binds to reverse transcriptase and is imcorporated into viral genome as thymidine analog. It does not have a 3’-OH so 3’-5’ phosphodiester bond formation is impossible

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53
Q

What are the physiologic effects of Nitro?

A

anti-ischemic effect due to venodilation and decreased left ventricular end-diastolic volume and wall stress, resulting in decreased myocardial oxygen demand and relief of angina symptoms

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54
Q

What are common myeloproliferative disorders and what genetic mutation are they associated with?

A

JAK2, cytoplasmic tyrosine kinase results in constitutively active tyrosine kinase activity and consequently cytokine-independent activation of signal transducers and activators of transcription (STAT) proteins

(polycythemia vera, essential thrombocythemia, myelo brosis, and CML)

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55
Q

Antiphospholipid antibodies can be seen in what condition that normally causes glomerulonephritis, photosensitive skin rash, and arthralgias?

Pt’s with antiphospholipid antibodies are at increased risk for what?

A

seen in 30% SLE pt’s

increased risk for venous and arterial thromboembolism and unexplained, recurrent pregnancy loss

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56
Q

What do you give for post exposure prophylaxis of meningococcal disease?

A

Rifampin. for anyone exposed to the secretions.

Vaccine important preventative but not useful for post exposure

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57
Q

risk factors for Squamous cell cx vs Adenocarcinoma?

A

SCC: EtOH, smoking, consumption of N-nitroso-containing foods (smoked fish)

Adeno: Barret’s, GERD, Obesity, Tobacco use

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58
Q

Where do you find the most deoxygenated blood in the body?

A

cardiac venous blood because cardiac muscle uses most.

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59
Q

Venous internal hemorrhoids drain into middle and superior rectal veins which commincate with which veins?

A

middle-internal iliac and superior-inferior mesenteric

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60
Q

The most important steps for preventing central venous catheter infections are:

A

Proper hand hygiene
Full barrier precautions during insertion
chlorhexidine skin disinfection
avoidance of femoral insertion site
removal of catheter when it is no longer needed

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61
Q

What is a major virulence factor and capsule component of Hib?

A

Polyribosylribitol phosphate (PRP)

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62
Q

Pt’s with somatostatinomas present with what symptoms?

A

hyperglycemia or hypoglycemia

steatorrhea

gallstones (because of poor contractility due to inhibition of CCK release)

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63
Q

Hyperphenylalanemia and elevated prolactin raise suspicion for which deficiency? what is the cofactor?

A

dihydrobiopterin reductase

tetrahydrobiopterin is cofactor

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64
Q

what is the presentation of biliary atresia?

A

(obstruction of extrahepatic bile ducts)

jaundice, dark urine, alcoholic stools (pale colored) in first two months of life due to conjugated hyperbilirubinemia (babies are normal at birth)

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65
Q

endothelial cells ca synthesize their own NO. How?

A

from arginine by nitric oxide synthase.

As a precursor of nitric oxide, arginine supplementation may play a role in the treatment of conditions that improve with vasodilation (stable angina)

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66
Q

What are the side effects of HIV protease inhibitors?

A

hyperglycemia, lipodystrophy, and drug-drug interactions due to inhibition of cytochrome P450

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67
Q

Why would you worry about giving a blood transfusion to a pt with IgA deficiency?

A

Pt can develop IgE antibodies to the IgA in the transfusion resulting in anaphylaxis.

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68
Q

When do you see acalulous cholecystitis?

A

critically ill pt’s (sepsis, severe burns, trauma, immunosuppression). Associated with high mortality

condition thought to arise secondary to gallbladder stasis and ischemia

leukocytosis often present.

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69
Q

What is the treatment guidelines for restless leg syndrome?

A

Avoidance of aggravating factors (alcohol, sleep deprivation)

Supportive measures: leg massage, exercise, heating pads

DOPAMINE agonists (pramipexole)

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70
Q

When are class 1C antiarrhytmics used? What are the names?

A

they are potent sodium channel blockers that have increased effect at fast heart rates. Used for treating tachyarrythmias, but can also cause prolonged QRS duration at higher heart rates

supresss SVTs including afib. last resort for refractory VT

“Fries Please”
Flecainide-torsades and drug interactions
Propafenone-granulocytopenia, HS reactions

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71
Q

What would you see on exam with a patellar fracture?

A

swollen knee, focal patella tenderness, inability to extend the knee against gravity, palpable gap in the extensor mechanism.

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72
Q

Leads I and aVL correspond to what leads on an EKG? ST elevation or Q waves in these leads are indicative of infarction involving which area?

A

Lateral limb leads

infarction involving the lateral aspect of the left ventricle which is supplied by the left circumflex artery.

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73
Q

How do you treat malaria?

A

erythrocytic forms may be treated with chloroquine and mefloquine.

Primaquine is required to kill P. vivax and P. ovale liver hypnozoites.

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74
Q

Dobutamine MOA and physiologic effects?

A

Beta-adrenergic agonist with predominant B1 activity.

increased HR and cardiac contractility which leads to increased myocardial oxygen consumption.

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75
Q

Differences in presentations of Acute HepB and Acute HepC?

A

HepB: serum sickness-like syndrome with joint pain, lymphadenopathy, and a pruritic urticarial rash. May have RUQ pain, hepatomegaly, and elevated transaminases. Sexual transmission most common

HepC: typically asymptomatic acute infection. Chronic infection associated with dermatologic manifestations (cryoglobinemia) and associate with IV drug use.

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76
Q

Differences in Type I and Type II muscle fibers? Where are each found in the body?

A

Type I: low level sustained force, like posture. Aerobic metabolism. Paraspinal muscles are postural

Type II: rapid forceful movement. anaerobic glycogenolysis and subsequent glycolysis. Biceps, Lats, Delts, Pecs, etc

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77
Q

The median nerve courses between what structures in the arm and wrist?

A

Humeral and ulnar heads of the pronator teres in the arm.

Flexor digitorum superficialis and felxor digitorum profundus before crossing the wrist through the carpal tunnel.

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78
Q

which drugs are good for treating Pseudomonas infections?

A

Penicillins: Ticarcillin and Pipercillin

Cephalosporins: Ceftazidime (3rd gen) and Cefepime (4th gen)

Aminoglycosides: Amikacin, gentamicin, tobramycin

Flouroquinolones: Ciprofloxacin and Levofloxacin

Monobactams: Aztreonam

Carbapenems: Imipenem and Meropenem

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79
Q

Drugs for MRSA: MOAs and Side effects.

A

Vanco-blocks cell wall synthesis by binding tightly to D-Ala-D-Ala. Side effects: Red man syndrome

Dapto-depolarizes cellular membrane by creating transmembrane channels. Side effects: Myopathy & CPK elevation (NOTE-inactivated by pulmonary surfactant)

Linezolid-inhibits bacterial protein synthesis by binding to 50S subunit

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80
Q

what is the difference between first order and zero order kinetics?

A

First: constant fraction (proportion) of drug is metabolized per unit of time, so amount metabolized changes based on serum concentration.

Zero: constant amount of drug us metabolized per unit time independent of serum levels

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81
Q

after implantation, what cells produce B-hCG and when is it detectable in maternal serum?

A

produced by syncytiotrophoblast after implantation which occurs 6-7 days after fertilization

detectable in serum about 8 days post fertilization and 14 days in urine

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82
Q

hyperaldostronism causes what electrolyte changes?

A

increased sodium reabsorption causing HTN, hypokalemia, and metabolic alkalosis

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83
Q

baby girl normal until age 5-18 months then loss of motor and language skills and development of stereotypic hand movements. Also decelerated head growth. What disease what inheritance?

A

Rett syndrome

X-linked MECP2 gene

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84
Q

Digoxin toxicity symptoms?

A

cardiac arrhythmias and nonspecific gastrointestinal symptoms (N/V), neurological (confusion, weakness) and visual symptoms. Elevated potassium caused by inhibition of Na/K ATPase

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85
Q

what bug do you suspect in an asthma pt with transient recurrent pulmonary infiltrates and eventual proxiaml bronchiectasis?

A

Apergillus funigatus

Allergic bronchopulmonary aspergillosis (ABPA)

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86
Q

t 14;18 translocation is associated with what disease and what is the result/change in expression?

A

Follicular lymphoma (non-hodgkin)

causes Bcl-2 overexpression

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87
Q

How do you treat a pt with PCOS that is having trouble getting pregnant?

A

Clomiphene

estrogen receptor modulator that decreases negative feedback inhibition on hypothalamus by circulating estrogen thereby increasing gonadotropic production

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88
Q

What amino acid is a precursor of serotonin?

How do you treat serotonin syndrome?

A

Tryptophan

Cyproheptadine: antihistamine with anti-serotonergic properties

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89
Q

Diabetic pt with albuminuria and HTN, other than control of blood glucose what drug should you give to decrease risk of end-stage renal disease?

A

ACE inhibitors or ARBs due to their blood pressure independent anti-proteinuric effects.

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90
Q

Which nerves are responsible for the patellar and achilles reflexes?

A

Patellar - L4

Achilles - S1

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91
Q

what causes left shift vs right shift in an oxygen-hemaglobin dissociation curve?

A

Left: decreased H+ (increased pH), decreased 2,3-BPG, decreased temperature

Right: increased H+ (decreased pH), increased 2,3-BPG (elevation, chronic lung dz, heart failure), increased temperature

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92
Q

what is the primary factor of the secondary structure of proteins?

A

hydrogen bonds

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93
Q

what is the trigger of HBV induced hepatocellular carcinoma?

A

viral DNA integration into the host genome

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94
Q

During appendectomy, what is used as a landmark in the even that the appendix cannot be palpated?

A

Teniae coli-trace to their origin at the cecal base

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95
Q

Primary adrenal insufficiency results in what electrolyte abnormalities?

A

hyponatremia, hyperkalemia, hyperchloremia, and non-anion gap metabolic acidosis

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96
Q

Vasopressin MOA?

A

V2 receptor mediated increase in water AND urea permeability at the inner medullary collecting duct.

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97
Q

Matching is used in case-control studies to control what potential problem?

A

Confounding

when a perceived association between an exposure and an outcome is actually explained by a confounding variable associated with both the exposure and the outcome.

Matching variables should always be the potential confounders of the study (ex, age, race). Cases and controls are then selected based on matching variables so that both groups have a similar distribution in accordance with the variables

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98
Q

PDH deficiency causes lactic acidosis and neurologic defects. Patients can’t convert pyruvate to acetyl CoA, resulting in shunting to lactic acid. How can the diet be changed to provide the pt with an energy source (increase which amino acid?)

A

Metabolism of exclusively ketogenic amino acids (lysine and leucine) can provide energy in the form of acetyl-CoA

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99
Q

TCA overdose can be fatal due to cardiac arrhythmias and refractory hypotension. MOA behind this arrhythmia?

A

Inhibition of fast sodium channels in cardiac myocytes (and the His-Purkinje system) is thought to be the major underlying event.

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100
Q

Describe the EKG of a pt with Afib

A

absence of P waves and irregularly irregular rhythm with varying R-R intervals

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101
Q

What is enoxaparin and what is it’s MOA?

A

Low-molecular-weight-heparin

Binds and activated antithrombin III (AT III). Activated AT III binds to factor Xa and stops factor Xa from converting prothrombin to thrombin.

Due to its fewer number of molecules, LMWH acts primarily on factor Xa not thrombin

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102
Q

Classical complement cascade begins with C1 binding two IgG or two IgM (IgM in pentameric form and better activator). Which portion of the immunoglobulin does C1 bind?

A

Fc portion of heavy chain near the hinge point

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103
Q

What is the MOA of vincristine?

A

inhibit microtubule formatino causes cell cycle arrest in M phase

dose related side effect is peripheral neuropathy

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104
Q

What are the main classes of antifunals and their MOAs? (hint there are 4 main classes)

A
  1. Polyenes (amphotericin B, Nystatin): bind to ergosterol molecules in fungal cell membranes, creating pores and causing cell lysis
  2. Triazoles (ketoconazole, fluconazole, itraconazole, voriconazole): Inhibit the synthesis of ergosterol
  3. Echinocandins (caspofungin, micafungin): Inhibit the synthesis of glucan, a component of the fungal cell wall
  4. Pyrimidines: Flucytosine, the only agent in this class of antifungals, is converted to 5-flourouracil within the fungal cell and intereferes with fungal RNA synthesis
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105
Q

Describe the pathogenesis of gallstones in Crohn’s disease?

A

Pt’s with Crohn’s affecting the terminal ileum (most common site of involvement) are prone to developing gallstones. Decreased Bile acid resporption by the inflamed terminal iileum promotes cholesterol supersaturation of bile, resulting in gallstone formation

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106
Q

Pretibial myxedema and exopthalmos are specific features of what?

A

Hyperthyroid from Grave’s disease specifically

Autoimmune response directed against TSH receptor that results in accumulation of glycosaminoglycans within the affected tissues

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107
Q

What is S4 and what is it associated with?

A

Low frequency sound heard at the end of diastole just before S1.

It is due to decreased left ventricular compliance and is often associated with restrictive cardiomyopathy and left ventricular hypertrophy

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108
Q

In a pt suffering from atherosclerosis all vascular beds are effected. Which vessels develop the highest burden of atherosclerosis?

A

Lower abdominal aorta and coronary arteries

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109
Q

Pathologic changes in the spleens of sickle cell patients are due to what?

A

Repetitive splenic infarctions caused by splenic microvessel occlusion.

Fibrosis, brown discoloration, and eventual autosplenectomy ultimately result.

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110
Q

What area of the respiratory tract contains stratified squamous epithelium?

A

True vocal cords

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111
Q

describe the mechanisms of infertility in primary ciliary dyskinesia vs CF

A

In PCD infertility is due to immotile spermatozoa

in CF infertility is due to absent vas deferens (azoospermia)

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112
Q

Tay Sachs: clinical features, inheritance, deficiency, accumulation of what?

A

Clinical: progressive neurodegeneration, cherry red spot on macula, NO HEPATOSPLENOMEGALY (which is found in Neimann pick)

Auto Recessive

beta-hexaminidase A deficiency

increased GM2 ganglioside

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113
Q

Where in the body does Bcell isotype switching occur?

A

germinal centers of the lymph nodes

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114
Q

List cardiac tissue conductance form fastest to slowest (areas like AV node etc)

A

Fastest: Purkinje system - Atrial muscle - Ventricular muscle - AV node : Slowest

“park at venture avenue”

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115
Q

Microscopy of a bug describing “serpentine” or “medusa head” appearance makes you think of what bug? describe it’s capsule.

A

Bacillus anthraxis

capsule is unique in that it contains D-glutamate instead of polysaccharide

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116
Q

Most common cause of asceptic meningitis?

A

Enteroviruses (coxsackie, echovirus, polioirus)

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117
Q

Central DI is due to damage of what?

A

posterior pituitary results in only transient central DI whereas damage to hypothalamic nuclei often causes permanent central DI

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118
Q

How does increased estrogen activity (such as in pregnancy or supplemental replacement in post menopause) effect the thyroid?

A

Increases levels of thyroxine-binding globulin. This leads to increase in total thyroid hormone levels, but feedback control maintains normal levels of free (biologically active) thyroid hormone.

Increased total levels but normal free levels

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119
Q

Interferons alpha and beta are produced by human cells in response to viral infections. What do they do?

A

help suppress viral replication by halting protein synthesis and promoting apoptosis of infected cells, limiting the ability of viruses to spread

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120
Q

Which aspect of the heart makes up the majority of the posterior aspect of the heart? what structure is immediately posterior to this aspect and can show pathology with enlargment of this aspect?

A

Left atrium with esophagus posterior. Enlargement of left atrium can result in compression of the esophagus and cause dysphagia

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121
Q

Pancreatic inflammation (pancreatitis or cancer) can cause a blood clot within which vein that results in increased pressure in short gastric veins and leads to gastric varices only in the FUNDUS

A

splenic vein

short gastric veins drain blood from the gastric fundus into the splenic vein

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122
Q

fidaxomicin indication and MOA

A

indicated for C diff infection (can also treat with metronidazole or vanco). Primarily for recurrent CDI.

inhibits RNA polymerase

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123
Q

First line treatment for trigeminal neuralgia and its MOA? SEs?

A

Carbamazepine

inhibits neuronal high-frequency firing by reducing the ability of sodium channels to recover from inactivation.

Side effects include bone marrow suppression so CBC should be monitored

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124
Q

describe the MOA of the shiga toxin (or shiga like toxin of EHEC)

A

blocks protein synthesis by disabling 60s ribosomal subunit. Leads to intestinal cell death and diarrhea (bloody)

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125
Q

Ribosomal RNA (except 5S rRNA) is transcribed where?

A

Nucleolus

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126
Q

Is K+ ion permeability highest during depolarization or repolarization?

A

repolarization

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127
Q

If you have a pt that has been on a long-acting acetylcholinesterase (ex pyridostigmine) with worsening symptoms and you give them edrophonium and they imporve, what does that tell you? What does it differentiate between?

A

Tells you they are being undertreated and you should increase the dose

differentiates between myasthenic crisis (not enough acetylcholine available in the neuromuscular junstion-will respond to edrophonium which increases ACh)
and
Cholinergic crisis (too much ACh from too high a dose results in desensitization-will not respond to edrophonium)

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128
Q

The oculomotor nerve courses between which arteries as it exits the midbrain? It is particularly susceptible to injury from aneurysms where?

A

posterior cerebral and superior cerebral

aneurysms of the ipsilateral posterior communicating artery

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129
Q

describe juxtaglomerular cells (type and function)

A

modified smooth muscle cells within the afferent glomerular arterioles that secrete renin

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130
Q

Appendicitis is most often the result of what pathology?

A

Lumen obstruction

due to fecaliths, hyperplastic lymphoid follicles, foreign bodies, or tumors

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131
Q

Histologic evaluation of an amniotic fluid embolism would show?

A

Fetal squamous cells in the pulmonary vasculature

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132
Q

when performing a cricothyrotomy the tube is placed between which structures and you cut through what layers?

A

between cricoid and thyroid cartilages

through skin,
superficial cervical fascia (including subcutaneous fat and platysma muscle)
pretracheal fascia,
and cricothyroid membrane

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133
Q

What is DRESS syndrome and what is it commonly caused by?

A

Drug Reaction with Eosinophilia and Systemic Symptoms

occures 2-8 weeks post drug exposure

common drugs are anticonvulsants (phenytoin, carbamazepine), Allopurinol, sulfonamides (sulfasalazine) and antibiotics (minocycline, vancomycin)

Pts develop fever, generalized lymphadenopathy, facial edema, diffuse skin rash, eosinophilia, and internal organ dysfunction

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134
Q

first line treatment for OCD?

A

SSRI and behavior therapy

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135
Q

Describe lab findings in SIADH

A

low plasma sodium, low plasma osmolality, inappropriately concentrated urine, and clinically NORMAL volume state (euvolemic hyponatremia)

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136
Q

What is Q fever?

A

Zoonotic infection in farm workers exposed to waste from cattle and sheep. Caused by Coxiella burnetii.

Pt with exposure to waste from farm animals who develops a nonspecific illness (myalgias, fatigue, fever [>10 days], retroorbital headache) with normal leukocyte count, thrombocytopenia, and increased liver enzymes

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137
Q

Describe Effect Modification.

A

occurs when the effect of an exposure on an outcome is modified by another variable

Effect modification is not bias

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138
Q

Early onset familial Alzheimer disease (< age 60) is associated with what gene mutations (hint there are three)

A

Amyloid precursor protein (APP) gene on Ch 21

Presenilin 1 gene on Ch 14

Presnilin 2 gene on Ch 1

APP and Presenilin gene mutations are thought to promote the production of A beta-amyloid

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139
Q

Late onset familial Alzheimer disease is associated with what gene mutation?

A

E4 allele of Apolipoprotein E

mechanism unknown. It’s thought that ApoE4 protein may be involved in the formation of senile plaques

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140
Q

Describe the symptoms of Folic Acid deficiency.

A

Megaloblastic anemia that can develop within a few weeks. Peripheral smear shows macrocytosis, ovalcytosis, and netrophils with hypersegmented nuclei.

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141
Q

What is myophosphorylase deficiency?

A

(McArdle disease or glycogen storage disease type V) causes failure of muscle glycogenolysis.

Results in decreased exercise tolerance, muscle pain and cramping, and myoglobinuria with physical activity)

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142
Q

Describe the difference between a gastric ulcer and erosion.

A

Ulcer penetrate through the mucosal layer and extend into the submucosal layer

Erosions do not fully extend through the muscularis mucosa (erosions are limited to the mucosal layer)

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143
Q

COX-1 is constitutively expressed in various tissues and is involved in a number of “housekeeping functions” (platelet aggregation, gastric mucosal protection, vascular homeostasis). Is this the same for COX-2?

A

No. Cox-2 is an INDUCIBLE enzyme that is undetectable in most tissues under normal conditions. During inflammation, infiltrating cells secrete cytokines (IL-1 and TNFa) that cause COX-2 upregulation in the inflammed tissues.

COX-2 drives the synthesis of pro-inflammatory arachidonic acid metabolites

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144
Q

If a baby is born with white pupils, hearing loss, and a machine like heart murmur, what should you be thinking?

A

Congenital Rubella!

Live attenuated rubella virus vaccine recommended for children 12-15 months and again at 4-6 years, as well as non-pregnant women of childbearing age that lack rubella antibodies

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145
Q

What is Rosealo infantum?

A

HHV-6 infection causes high fever for 3-5 days followed by an erythematous maculopapular rash

Rash usually starts on the trunk and spreads to the face and extremities

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146
Q

What is achondroplasia?

A

point mutation in FGFR3 gene causes exaggerated inhibition of chondrocyte proliferation, leading to prevention of endochondral ossification in the long bones

characteristic features include rhizomelia (shortening of the proximal limbs), brachydactyly (shortened fingers), and mid face hypoplasia and macrocephaly

Auto Dom

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147
Q

How do you measure pulsus paradoxus and what does it indicate?

A

Detected by inflating the blood pressure cuff above systolic pressure and measuring the difference between the pressure where Korotkoff sounds first become present with expiration and the pressure where you can hear them throughout all phases of respiration

Pulsus paradoxus is a difference >10 and is most commonly seen in pts with cardiac tamponade but can also occur in severe asthma, COPD, and constrictive pericarditis

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148
Q

Bronchial smooth muscle relaxation occurs via an increase in what?

A

Intracellular cAMP

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149
Q

Explain the effects of desmopressin (DDAVP) therapy on bleeding disorders.

A

In mild hemophilia A and Type 1 vWD: increases circulating factor VIII and endothelial secretion of vWF to stop bleeding

more well known for uses in central DI and nocturnal enuresis

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150
Q

How is prokaryotic DNA pol I unique?

A

has 5’-3’ exonuclease activity in addition to 5’-3’ polymerase and 3’-5’ exonuclease activities

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151
Q

What do you give to tx heparin overdose?

A

Protamine (specific heparin antagonist)

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152
Q

Describe Kawasaki disease. What serious complication can arise?

A

vasculitis of medium-sized arteries. Presents with fever >5days and bilateral conjuntivitis, cervical lymphadenopathy, and mucocutaneous involvement.

Coronary artery aneurysms are a serious complication.

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153
Q

What is adenomyosis?

A

Presence of endometrial glandular tissue within the myometrium.

Menorrhagia and dysmenorrhea are common presenting symptoms. Pt’s have uniformly enlarged uterus with normal-appearing endometrial tissue on biopsy

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154
Q

What is bortezomib?

A

Proteasome inhibitor (G2-M cell cycle arrest) tx for multiple myeloma

It is a boronic acid-containing dipeptide

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155
Q

What is omalizumab?

A

IgG1 monoclonal antibody against IgE, used in pts with severe asthma

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156
Q

What are the symptoms/findings of opioid withdrawal?

A

dilated pupils, yawning, lacrimation, N/V etc

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157
Q

During bacterial DNA replication which enzyme removes RNA primers?

A

DNA pol I

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158
Q

Describe the mechanism behind increased expiratory flow rates in Interstitial lung disease.

A

increased elastic recoil results in increased radial traction which leads to increased expiratory flow rated when corrected for the low lung volume

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159
Q

What is the significance of meningococcal LOS?

A

causes sepsis by inducing a systemic inflammatory response characterized by production of TNFa, ILbeta, IL-6, and IL-8

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160
Q

Describe the hormone levels and clinical findings of a pt with Klienfelter syndrome

A

47 XXY

Primary hypogonadism (elevated FSH and LH, low testosterone

long extremities; small, firm testes, and azoospermia

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161
Q

How do you treat febrile seizures?

A

You don’t…Supportive care. Ibuprofen/Aceaminophen

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162
Q

Bipolar I vs Bipoar II?

A

I: manic episodes (depressive episodes common but not required for diagnosis)

II: hypomanic episodes (> or equal to 1 major depressive episodes required.

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163
Q

Tyramine HTN crisis can occur in patients taking what medication?

A

MAOIs

Tyramine normally metabolized by MAO in GI but when taking an MAOI tyramine enters circulation causing HTN

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164
Q

Polycythemia vera presenting symptoms and associated gene mutation?

A

non-specific sx’s (HA, weakness, diaphoresis), Itchy after hot shower, facial plethora (reddish complexion), and splenomegaly

associated with JAK2, a non receptor (cytoplasmic) tyrosine kinase that is associated with the EPO receptor

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165
Q

Interstitial myocardial granulomas (Aschoff bodies) are found in what dz?

A

carditis due to acute rheumatic fever

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166
Q

Maturing RBCs lose their ability to synthesize heme when they lose what organelle?

A

Mito

necessary for first and final 3 steps of heme synthesis

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167
Q

Latanoprost is used in the treatment of what? MOA?

A

Open-angle glaucoma

topical prostaglandin that increases outflow of aqeous humor via the uveoscleral pathway

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168
Q

Newborn intestinal atresias of the jejunum, ileum, and proximal colon are the result of what?

A

vascular occlusion in utero

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169
Q

Bacterioides fragilis is commonly known for causing what pathology?

A

Intraabdominal infections (along with E. coli)

stem was about a perforated appendicitis causing an intraabdominal abcess

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170
Q

Gonadal arteries are branches off of what artery?

A

Abdominal aorta below renal arteries

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171
Q

Pt with pneumonia like symptoms that has been exposed to bird/bat droppings in the ohio mississippi area is likely what bug with what morphology?

A

Histoplasma capsulatum

dimorphic fungus located intracellularly within macrophages

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172
Q

What is the MOA of 6-mercaptopurine and what other medication can increase the activity this drug?

A

6-mercaptopurine is a cytotoxic purine analog (chemo) that inhibits de novo purine synthesis. It is a prodrug activated by HGPRT and inactivated by Xanthine Oxidase and thiopurine methyltransferase in the liver.

Allopurinol is an XO inhibitor and therefore can greatly increase the levels of 6-mercaptopurine

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173
Q

What is a Leukemoid reaction?

A

Benign leukocytosis (>50,000) in response to infection/hemorrhage, malignancy, or acute hemolysis.

Leukocyte alanine phosphatate levels are normal or increased

Peripheral smear shows increased bands, early mature neutrophil precursors (myelocytes) and granules (Dohle bodies) in the neutrophils

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174
Q

What is a length constant in neurology?

A

measure of how far along an axon an electrical impulse can propagate.

low length constant means impulse cant travel far–like in demyelinating disease

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175
Q

Bosentan MOA and indication

A

Competative antagonist of endothelin receptors used for treatment of idiopathic pulmonary arterial HTN`

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176
Q

What are the lung findings of pulmonary HTN

A

increased arteriolar smooth muscle thickness, intimal fibrosis, and significant luminal narrowing

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177
Q

Caudal regression syndrome in a newborn. What is it and when do you see it?

A

Sacral agenesis causing lower extremity paralysis and urinary incontinence

seen in poorly controlled maternal diabetes

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178
Q

Findings of aplastic anemia

A

pancytopenia. bone marrow is replaced by fat cells and marrow stroma. Absence of splenomegaly is characteristic (unlike other anemia)

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179
Q

Permeability to what ions make up the resting membrane potential (-70)

A

High potassium efflux and some sodium influx

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180
Q

What is a complete atrioventricular canal defect and when do you see it?

A

Composed of atrial septal defect, ventricular septal defect, and a common AV valve.

It is the most common congenital cardiac defect of Down’s

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181
Q

What is the most common form of congenital renal hyperplasia and what are the results?

A

21-hydroxylase deficiency responsible for progesterone to 11-deoxycorticosterone

affected female infants present at birth with ambiguous (virilized) genitialia.

Male infants have normal genitialia and present later with salt-wasting or precocious puberty.

High serum 17-hydroxyprogesterone is diagnostic

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182
Q

What contributes to the rubber like elasticity of elastin protein?

A

extensive cross-linking between elastin monomers, facilitated by lysyl oxidase

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183
Q

How do eosinophils contribute to parasite killing?

A

they destroy the parasite via-antibody dependent cell-mediated cytotoxicity with enzymes from their cytoplasmic granules

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184
Q

What causes fragile X syndrome

A

increased CGG repeats on FMR1 gene on the long arm of X chromosome.

Leads to hypermethylation and inactivation of FMR1

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185
Q

Describe the path of the optic nerve as it leaves the retina

A

optic nerve to lateral optic chiasm then via optic tract to lateral geniculate body of thalamus, finally to ipsilateral optic radiations to ipsilateral primary visual cortex

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186
Q

Describe drainage of the ovarian veins

A

Left into renal and right into iVC

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187
Q

How do you manage peripheral artery disease and what is the MOA of the drug of choice?

A

Graded exercise program and Cilostazol

Cilostazol is a phosphodiesterase inhibitor that inhibits platelet aggregation and acts as a direct vasodilator.

Pt’s with PAD should also receive an antiplatelet agent (aspirin or clopidogrel) for secondary prevention of CAD and stroke

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188
Q

Where do surgeons access the great saphenous vein for use in grafting?

A

in the medial leg or, less commonly near its point of termination in the femoral triangle of the upper thigh.

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189
Q

What is ataxia telangiectasia?

A

auto-recessive disorder resulting from defect in DNA repair genes. Therefore the DNA of these pt’s is hypersensative to ionizing radiation.

Manifestations include cerebellar ataxia, oculocutaneous telangiectasia, repeated sinopulmonary infection. and an increased incidence of malignancy

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190
Q

What happens in nitrate poisoning?

A

Methemoglobinemia (can’t bind O2)–> functional anemia

dusky discoloration of the skin (looks like cyanosis)

Note: this results in a left shift in the oxygen dissociation curve but partial pressure of oxygen will be unchanged

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191
Q

What are the three causes of Down’s syndrome?

A

Meiotic non-dysjunction

Unbalanced translocation

Mosaicism

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192
Q

Explain findings of RInne and Weber tests

A

Rinne: uses mastoid bone. should hear longer in the air than bone. Bone conduction greater than air suggests conductive hearing loss

Weber uses middle forehead

  • -conductive hearing loss lateralizes to affected ear
  • -sensorineural loss lateralizes to unaffected ear

CONDUCTIVE: abnormal Rinne (bone > air), Weber lateralizes to effected ear

SENSORINEURAL (cochlea/auditory nerve): normal Rinne (air>bone), Weber lateralizes to unaffected ear

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193
Q

Cold agglutinins are associated with what bug

A

mycoplasma pneumoniae

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194
Q

Leading cause of cancer mortality in women?

A

LUNG. also leading cause of cancer mortality in men

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195
Q

Most common fungal infections in neutropenic patients?

A

Candida and Aspergillus

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196
Q

What is Abetalipoproteinemia?

A

Auto Rec loss of function mutation in MTP gene

inability to synthesize apolipoproteinB. Lipids absorbed by small intestine cannot be transported into the blood stream and accumulate in intestinal epithelium resulting in enterocytes with clear or foamy cytoplasm

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197
Q

Difference between positive and negative selection of T lymphocytes?

A

Positive: in thymic cortex, TCR can bind MHC = survival

Negative: after positive. Tcells that bind too tight eliminated by apoptosis. occurs in thymic medulla

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198
Q

Bupropion is a first line anti-depressant with amphetamine like properties ( not associated with weight gain or sexual dysfunction) but is contraindicated in what pt’s?

A

May cause seizures at high doses

contraindicated in pt’s with seizure disorder, anorexia, and bulemia nervosa

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199
Q

Describe Hartnup disease

A

Auto recessive decreased neutral amino acid transporter

Tryptophan an essential neutral amino acid needed to make niacin and NAD+

Sx’s are intermittent attacks of pellegra-like skin (rash on sun exposed skin) eruptions, and cerebellar ataxia

Dx confirmed by presence of neutral amino acids in the urine

200
Q

What is hibernating myocardium?

A

left ventricular systolic dysfuntion due to reduced coronary blood flow at rest that is partially or completely reversible by coronary revascularization

Pt with EF of 30% improves to 50% after catheterization/bypass

201
Q

Cerebellar hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas

A

Von hippel-Lindau

Auto Dom

mutated VHL tumor suppressor gene on Chromosome 3p

202
Q

Tetrahydobiopterin (BH4) is a cofactor in the synthesis of what molecules?

A

Tyrosine, Dopamine, and Serotonin

203
Q

Which believes in magic, schizoid or schizotypal

A

schizotypal

204
Q

What are causes of secondary hyperaldosteronism

A

renovascular disease, malignant HTN, and renin secreting tumors

both aldo and renin are increased

205
Q

Inhaled anesthetics decrease blood flow to many organs but increase blood flow to where?

A

Brain

206
Q

MOA of sirolimus

A

binds immunophilin FK-506 binding protein (FKBP), forming a complex that inhibits mTOR, Thereby inhibiting cell growth and proliferation

207
Q

MOA of bortezomib

A

inhibits 26S proteasome

Used in multiple myeloma can facilitate apoptosis of neoplastic cells by preventing degradation of pro-apoptotic factors

208
Q

esophageal varices is a result from chronic shunting of blood to systemic circulation via what vessel?

A

Left gastric vein

209
Q

Gallstone ileus can cause what pathology and what is a common radiograph finding

A

causes small bowel obstruction

commonly see air in the biliary tree on Xray

210
Q

Meckel’s diverticulum is a true diverticulum. What does that mean?

A

consists of all parts of the intestinal wall (mucosa, submucosa, and muscular layers)

vs false diverticulum which contains mucosa and submucosa only

211
Q

Rabies vaccine is what type of vaccine

A

inactivated

212
Q

Ristocetin test is abnormal in what diseases? What disease will normalize after addition of normal plasma?

A

Bernard-Soulier syndrome (hereditary GP Ib receptor deficiency) and vWF deficiency

vWF deficient will normalize with addition of normal plasma (because adding in the normal vWF with plasma

213
Q

What are the lymph drainages proximal and distal to the anal dentate line?

A

Proximal: to inferior mesenteric and internal iliac

Distal: primarily to inguinal nodes

214
Q

Presentation of TCA overdose and antidote

A

mental status changes, seizure, prolonged QRS, ventricular arrhythmia, and anticholinergic findings

give sodium bicarb to treat associated cardiac toxicirt by increasing serum pH and extracellular sodium

215
Q

Acute effects of corticosteroids will cause increase on what on a CBC?

A

increased neutrophil count due to demargination of neutrophils previously attached to vessel wall.

will show decrease in lymphocyte, monocyte, basophil, and eosinophil

216
Q

What are the two causes of congenital long QT and how does long QT arise?

A

Romano-Ward syndrome (auto dom no deafness) and Jervell and Lange Nielsen (auto rec associated with deafness)

thought to result from mutations in a K+ channel protein that contributes to the delayed rectifier current (Ik) of the cardiac action potential

217
Q

What abnormal urine finding is pathopneumonic for pyleonephritis?

A

WBC casts

fever, bacturia, hematuria are in both UTI and pyelo

218
Q

how do you calculate attributable risk and number needed to harm

A

[ a /(a+b) ] - [ c (c+d) ]

1/attributable risk

219
Q

How does septic shock result in lactic acidosis?

A

tissue hypoxia impairs oxidative phosphorylation and causes shunting of pyruvate to lactate following glycolysis

Hepatic hypoperfusion also contributes to the buildup of lactic acid bc liver is primary site of lactate clearance

220
Q

MOA of dobutamine

A

beta adrenergic agonist. Primarily beta1

Gs activation – > increased cAMP and calcium mediated contraction

221
Q

what is cord factor (think mycobacterium)

A

a mycoside

presence of cord factor correlated with virulence. mycobacteria will grow in ropelike cords with a “serpentine” patterin-indicates presence of cord factor

222
Q

Which imaging modality would you use to dx vertebral osteomyelitis?

A

MRI

223
Q

Abciximab MOA and indication

A

GP IIb/IIIa receptor antagonist. inhibits binding of this receptor to fibrinogen

tx of unstable angina and acute coronary syndrome, particularly in pt’s undergoing percutaneous coronary intervention

224
Q

What are the three stop codons?

A

UAA UAG UGA

225
Q

Dihydrorhodamine flow cytometry assess what?

A

Neutrophil presence of NADPH oxidase. flourescent green = positive.

226
Q

What is a severe complication that can arise from aggresive osmotic diuresis with mannitol?

A

pulmonary edema

227
Q

Main adverse effects of nitrate therapy?

When should nitrate therapy be avoided?

A

Headaches, cutaneous flushing, lightheadedness, hypotension, and reflex tachycardia

avoid in pt’s with hypertrophic cardiomyopathy (due to increased outflow tract obstruction), right ventricular infarction (due to reduction in pre-load, impairing cardiac output), and phosphodiesterase inhibitors

228
Q

What is the metyrapone stimulation test?

A

sensitive indicator of hypothalamic-pituitary-adrenal (HPA) axis integrity

administration or metyapone will cause decrease in cortisol via inhibition of 11-beta-hydroxylase. In pt’s with intact HPA this will increase ACTH, 11-deoxycortisol and urinary 17-hydroxycorticosteroid levels

229
Q

Abrupt onset of gross hematuria in an otherwise healthy pt with family hx sickle cell anemia suggests…?

A

Renal papillary necrosis due to underlying sickle cell trait

230
Q

Hyperplastic arteriolosclerosis is characterized by what?

A

persistent diastolic pressure exceeding 130 often associated with acute vascular damage

presents as onion-like concentric thickening of the walls of the arterioles as a result of laminated smooth muscle cells and reduplicated basement membranes (results in decreased GFR further increasing BP via RAAS viscious cycle)

231
Q

persistent headache and diffuse muscle pain that responds promptly to glucocorticoid therapy is indicative of what?

A

Giant cell arteritis

232
Q

transamination and decarboxylation reactions require what cofactor?

A

Pyridoxine (B6)

like between amino acid and alpha-keto-acid

233
Q

snRNPs are important components of what in the nucleus?

A

Spliceosome

Spinal muscular atrophy is a disorder caused by muations in SMN1 gene resulting in impaired assembly of snRNPs in lower motor nuerons. Infants often have flaccid paralysis due to degeneration of anterior horn cells in the spinal cord

234
Q

alpha-1 antitrypsin disease will show what on histological section of the liver? what stain should be used?

A

Reddish-pink, PAS + granules of unsecreted, polymerized AAT in the periportal hepatocytes

235
Q

pt with unknown toxic ingestion has a garlic breath odor? What is the toxin and how do you treat it?

A

Arsenic

Dimercaprol

236
Q

Muddy brown casts are pathopneumonic for?

A

ATN

237
Q

Fever, bloody diarrhea, rash on chest/abdomen

A

S. typhi

238
Q

Viridans streptococci adhere to what specifically in a damaged valve to lead to endocarditis

A

Fibrin-platelet aggregates

239
Q

Obstructive sleep apnea when untreated put’s pt at risk for what?

A

systemic HTN leading to pulmonary HTN and right HF

240
Q

Contralateral hemianopia and Marcus Gunn pupil?

A

Optic tract lesion

241
Q

Two immune diseases in which a thymic shadow would be decreased or absent

A

SCID and DiGeorge

242
Q

Describe pertussis

A

G- coccobacillus. transmitted by respiratory droplets

Catarrhal phase -like any other URI

Paroxysmal phase - severe coughing spells with characteristic inspiratory whoop or post pertussive emesis

convalescent phase symptoms improve

243
Q

Symptoms of a pancoast tumor?

A

ipsilateral Horner syndrome, rib distruction, atrophy of hand muscles, and pain in the distribution of C8, T1, and T2 nerve roots (shoulder pain, paresthesias, weakness, and muscle atrophy)

244
Q

What are the symptoms of jugular foramen syndrome?

A

dysfunction of cranial nerves IX, X, and XI-dysphagia, hoarseness, loss of gag reflex on the ipsilateral side, and deviation of the uvula toward the normal side.

245
Q

Neonatal intraventricular hemorrhage usually occurs in what area of the brain?

A

fragile germinal matrix

increases in frequency with decreasing age and birth weight

246
Q

Humoral hypercalcemia of malignancy is caused by secretion of what?

A

Parathyroid hormone-related protein (PTHrP)

247
Q

A cerebellar tumor in a child is most likely what? How can you differentiate to make the correct dx?

A

Pilocytic astrocytoma or Medulloblastoma

On MRI pilocytic will show both solid and cystic components. Medulloblastomas are always solid.

248
Q

If you’re worried about a pt developing agranulocytosis which lab value should be monitored?

A

Absolute neutrophil count

249
Q

Describe the indications for a muscarinic agonist such as bethanechol vs an antimuscarinic like oxybutynin?

A

Muscarinic agonists like bethanecol are used for post-operative urinary retention

oxybutynin is used for urge incontinence to decrease voiding

250
Q

Cardiovascular dysphagia results from what enlarged aspect of the heart compressing the esophagus?

A

LEFT ATRIUM!

251
Q

What is the major virulence factor of S. pyogenes?

A

Protein M

inhibits phagocytosis and compliment activation, mediates bacterial adherence, and is the target of type-specific humoral immunity to S. pyogenes

252
Q

First line treatment for essential tremor?

A

Beta-blocker (propanolol)

253
Q

Explain mechanisms behind hyperacute, acute, and chronic tissue rejection

A

Hyperacute: preformed antibodies against graft in recipient circulation

Acute: donor antigens induce humoral/cellular activation of naive immune cells

Chronic: chronic, low grade immune response refractory to immunosuppressants

254
Q

Accessory nipples are a result of

A

failed involution of mammary ridge

255
Q

Narcolepsy pt’s will show decreased what in CSF?

A

hypocretin-1 (orexin-A)

produced by lateral hypothal and functions to promote wakefulness and inhibit REM-sleep related phenomena

256
Q

A pt that has thick fibrous tissue in the pericardial space is diagnostic for what? What clinical signs would you see?

A

Constrictive pericarditis

increased JVP
Kussmaul sign (increased JVP with inspiration)
Pulsus paradoxus
Pericardial knock (earlier in diastole than S3)
257
Q

metabolic side effects of thiazides?

A

increase: serum calcium, uric acid, glucose, cholesterol, and triglycerides
decrease: sodium, potassium, and magnesium

258
Q

the most common eye-related complication of congenital CMV

A

chorioretinitis

259
Q

Clinical features of legoinella pneumonia

A

high fever
headache confusion
watery diarrhea

260
Q

How do you distinguish silicosis from other pulmonary disease?

A

biopsy will show calcification of the rim of hilar nodes (eggshell calcification) and birefringent silica particles surrounded by fibrous tissue

261
Q

What is the difference between prevalence and incidence? how can prevalence be increased?

A

prevalence: total # disease at given time

Incidence: # new cases over given time period

Prevalence = incidence x duration of dz

increase in incidence or disease duration would increase prevalence

262
Q

Pulmonary capillary wedge pressure closely reflects what?

A

left atrial and left ventricular end-diastolic volume

Mitral stenosis leads to an increase left atrial pressure and increased PCWP

263
Q

Facial pain, headace, and black necrotic eschar in the nasal cavity of a pt with DKA is suggestive of what?

A

mucormycosis

biopsy will show broad nonseptate hyphae with right-angle branching

264
Q

What serum marker should you be most worried about in a pregnant woman with HepB?

A

HBeAg (marker for viral replication and increased infectivity) greatly increases the risk of vertical transmission to fetus

265
Q

Why is timolol given in open angle glaucoma

A

Timolol and other non selective beta blockers work by diminishing the secretion of aqueous humor by the ciliary epithelium

266
Q

Marked ballooning and vacuolar degeneration of proximal renal tubules and multiple oxalate crystals in the tubular lumen is indicative of what?

A

ATN due to ethylene glycol ingestion

would also see metabolic acidosis and increased anion gap

267
Q

Why would a pt with multiple blood transfusions over a 24 hr period experience paresthesias?

A

Citrate is added to stored blood and can chelate calcium and magnesium resulting in paresthesias

268
Q

Peptostreptococus, Prevotella, Bacteroides, and Fusobacterium are anaerobic bacteria found where and common for causing what?

A

oral cavity

most frequent cause of lung abcesses. risk in pts with aspiration risk (alcoholism, drug abuse, seizure disorders, stroke, and dementia)

269
Q

Dimpling of the breast skin assoicated with cx is due to infiltration of what?

A

Suspensory ligament

270
Q

What is the difference between bulemia nervosa and binge eating disorder?

A

With Bulemia pt’s will compensate after binging (vomit, exercise, fast)

With binge eating disorder there is no compensation after

271
Q

main molecules involved in rolling, tight adhesion and transmigration of WBCs?

A

rolling: selectins

Tight adhesion: integrins and ICAM-1

Transmigration: PECAM-1

272
Q

What is the main difference between a benign enlarging lymph node vs a malignant one

A

Benign: polyclonal proliferation of lymphocytes

Malignant: monoclonal proliferation

273
Q

Very long chain fatty acids with branch points at odd #s cant be oxidized in the mito so they go where?

A

Peroxisome

peroxisomal dz with absent or deficient peroxisomes results in neurologic defects from improper CNS myelination

274
Q

What is the MOA of tetanus toxin

A

blocks release of GLYCINE and GABA!

275
Q

which diuretic can cause ototoxicity?

A

Loop diuretics because they can inhibit a NKCCl2 in the ear too

276
Q

What aspect of the nephron do thiazides work in?

A

distal convoluted tubule

277
Q

RT-PCR is used to quantify levels of what?

A

mRNA

278
Q

What are the primary mediators of pathogenesis in COPD?

A

Neutrophils. macrophages, and CD8+ lymphocytes

279
Q

Biotin is a cofactor for what enzymes?

A

Carboxylases!

Pyruvate carboxylase (pyruvate to oxaloacetate in glycolysis)

Acetyl-CoA carboxylase (acetyl-CoA to malonyl CoA in FA synthesis)

Propionyl-CoA carboxylase ( propionyl CoA to methylmalonyl CoA in FA oxidation)

280
Q

What is a developmental field defect?

A

multiple malformations that occur secondary to an embryonic disturbance in an adjoining group of cells

ex: holoprosencephaly - spectrum of fetal anomilies due to incomplete division of the forebrain

281
Q

Serum sickness symptoms?

A

fever, urticaria, arthralgias, proteinuria, and lymphadenopathy 5-10 days post exposure to drug

282
Q

A bone marrow biopsy of someone with aplastic anemia would show?

A

hypocellularity and fat cells

283
Q

What is the MOA of the necrotic toxin produced by C. perfringens

A

alpha toxin lecithinase catalyzes splitting of phospholipids

Note: C.perfringens has at least 12 toxins but lecithinase most injurous

284
Q

Drug of choice to treat status epillepticus? MOA?

A

Benzo’s increase frequency of Cl channel opening (increased postsynaptic chloride influx leading to suppression of action potential firing)

285
Q

How does hypovolemia affect RPF, GFR and FF?

A

decrease in RPF and GFR results in compensatory efferent arteriole constriction and increased FF

286
Q

Which enzyme in heme degradation produces a green pigment?

A

Heme oxygenase converts heme to biliverdin, a

287
Q

Pericardial inflammation can happen early or late following an MI. What is the difference?

A

early happens in 10-20% of patients between days 2-4 post transmural MI and repesents an inflammatory reaction to cardiac muscle necrosis

Late happens one week to a few months in <4% of cases, referred to as Dressler’s syndrome and thought to be an autoimmune polyserositis

288
Q

Where does conversion of ANGI –> ANG II happen?

A

in small vessels of lungs that contain endothelial bound angiotensin converting enzyme

289
Q

Does a minor need parental consent for an abortion?

A

yes unless emacipated

290
Q

Porphyria cutanea tarda is caused by a deficiency of what enzyme?

A

uroporphyrinogen decarboxylase (UROD)

Photosensativity presents as vesicle and blister formation on sun-exposed areas as well as edema, pruritis, pain, and erythema.

Deficiencies in coproporphyrinogen oxidase, protorphyrinogen oxidase, or ferrochelatase can also result in photosensitivity

291
Q

Difference in markers between precoursor B-cell leukemia and mature B-cell leukemia

A

Precursor: TdT+, CD10+, and CD19+

Mature: CD19 and CD5

292
Q

Aedes mosquito transmits what viruses?

A

Dengue fever and Chikunguya

DF: acute febrile illness with headache, retro-orbital pain, and joint and muscle pain

Chik: febrile illness with flulike sx’s, prominent arthralgias, and diffuse macular rask

293
Q

Thiamine is a cofactor for which enzymes?

A

Pyruvate dehydrogenase

alpha-ketoglutarate dehydrogenase

transketolase

294
Q

Initial empiric treatment of a coagulase negative staph?

A

Vanco

If found to be susceptible later then switch to nafcillin or oxacillin

295
Q

What should be prescribed in treatment resistant and atypical depression? What are signs of atypical depression?

A

MAOIs are useful in treatment resistant and atypical depression

increased appetite and sleep, laden paralysis, rejection sensitivity, and mood reactivity are hallmarks of atypical depression

296
Q

Why are antibiotics a trigger for a vaginal yeast infection?

A

ABX wipe out the lactobacilli which facilitates candida overgrowth

297
Q

Ecthyma gangrenosum is a cutaneous necrotic disease with stronga association with which bug?

A

P. aeruginosa

298
Q

what is chlorpheniramine?

A

First gen H1-histamine receptor antagonist

299
Q

What is the most common cause of cushing syndrome?

A

endogenous corticosteroid use results in decreased ACTH and bilateral adrenal atrophy

300
Q

Obese patient with dyspnea has decreased Po2 and increased Pco2 with a normal A-a gradient

A

Obesity hypoventilation syndrome

301
Q

Vit E deficiency causes damage to what area of the CNS?

A

Spinocerebellar tracts, dorsal columns, and peripheral nerve degeneration

ataxia, loss of position and vibrations, and loss of deep tendon reflexes

302
Q

Describe the changes you see in pulmonary function testing with aging?

A

increased residual volume, decreased forced vital capacity due to loss of elastic recoil

TLC does NOT change

303
Q
fever
neurologic symptoms
renal failure
anemia
thrombocytopenia 

all int he setting of a GI illnes. normal PT and PTT but increased bleeding time

A

Thrombocytopenic thrombotic purpura-hemolytic uremic syndrome

one of the thrombotic microangiopathy syndromes

platelet activation in arterioles and capillaries
diffuse microvesicular thrombosis (most commonly affecting heart brain and kidneys)
microangiopathic hemolytic anemia with schistocytes
thrombocytopenia

304
Q

the 2 most important factors for osteoclastic differentiation?

A

M-CSF and RANK-L (receptor for activated nuclear factor kappa-B ligand)

305
Q

slow growing and firm feeling abscess in the face or neck region that eventually forms cutaneous sinus tracts following a dental procedure is caused by what bug?

A

Actinomyces isralii

306
Q

MOA of Etanercept?

A

reduces biological activity of TNF-a by acting as a decoy receptor

307
Q

Once blood supply is cut off (completely) how long will a cardiomyocyte contraction continue?

A

less than 60 seconds

if blood flow is restored withing 30 minutes the damage is reversible

308
Q

How do natriuretic peptides affect renal function?

A

afferent dilation and efferent contraction to promote natriuresis (sodium excretion) and diuresis (fluid excretion)

309
Q

Where do supine pt’s aspirate into (what part of the lungs)

A

due to gravity pt’s typically aspirate into the posterior segments of the upper lobes and superior segments of the lower lobes

pt’s who are upright tend to aspirate into the basilar and lower lobes

aspirated material more likely to travel down right bronchus

310
Q

Describe Freiderich ataxia

A

auto recessive

gait ataxia, impaired joint and vibration sense, hypertrophic cardiomyopathy, kyphosis, pes cavus, and diabetes mellitus

311
Q

Bilateral wedge-shaped strips of necrosis over the cerebral convexity, parellel and adjacent to the longitudinal cerebral fissure is indicative of what?

A

ischemic-hypoxic encephalopathy (global cerebral ischemia) resulting in watershed infarcts between the zones of perfusion of the anterior, middle, and posterior cerebral arteries

312
Q

MOA of fibrate medications (fenofibrate, gemfibrozil)

A

inhibit cholesterol 7a-hydroxylase, which catalyzes the rate-limiting step in the synthesis of bile acids

reduced production results in decreased cholesterol solubility in bile and favors the formation of cholesterol gallstones

313
Q

What is a dangerous effect of Second hand smoke exposure in ore and post-natal?

A

SIDS

314
Q

Drug of choice to treat oral candidiasis?

A

Nystatin in immunocompetent (binds ergosterol forms pores and leakage of fungal contents)

315
Q

Which mood stabilizer is known to cause hypothyroidism in addition to other side effects?

A

Lithium

also causes diabetes insipidus
tremor and ebstein anomaly (congenital)

316
Q

What is Cheyne-Stokes breathing?

A

cyclic breathing in which apnea is followed by gradually increasing then decreasing tidal volumes until the next apneic period

317
Q

What drug characteristic makes it more likely to be metabolized through the liver vs the kidney?

A

Drugs that are highly lipophillic are preferentially processed by the liver

318
Q

differences between cherry hemangioma and strawberry hemangioma?

A

Cherry: most common benign vascular proliferation in adults. small bright red papules that appear in adulthood. do not regress

Strawberry: most common benign vascular proliferation in children. Bright red compressible plaques with sharply demarcated borders. Appear during first days or weeks after birth, grow rapidly during first 1-2 yrs, and regress by age 5-8

319
Q

Assuming a normal rate of metabolic CO2 production, hypocapnia implies…?

A

alveolar hyperventilation

V/Q mismatch - decreased O2 and CO2 exchange

320
Q

How does a beta-blocker effect EKG findings?

A

increased PR

no change in QRS or QT

321
Q

How do you calculate the Power of a study?

A

1-B

1-type II error (beta error)

322
Q

Sotalol MOA, indications, and SEs

A

Class III antiarrhythmic (K+ channel blocker)

occasional use for afib

bradycardia, proarrhythmia, torsades de pointes due to QT interval prolognation

323
Q

Mycobacterial resistance to isoniazid is most likely due to what mechanism?

A

Isoniazid must be processed though mycobacterial catalase peroxidase for the drug to be activated in the bacteria.

Non-expression of the catalase-peroxidase enzyme or genetic binding of INH binding site on the mycolic acid synthesis enzyme can result in resistance

324
Q

CMV results in what type of illness?

A

Mononucleosis-like syndrome with negative heterophile antibodies

325
Q

What kind of drug is citalopram?

A

SNRI

326
Q

female born with ambiguous genitalia that develops HTN and hypokalemia is most likely due to a deficiency in what enzyme?

A

11-hydroxylase deficiency

327
Q

Mechanism behind diabetic neuropathy?

A

diabetic microangiopathy leads to nerve ischemia

Also, accumulation of sorbitol which results in water influx and cell injury

328
Q

Which adrenergic receptors affect insulin secretion?

A

Alpha-2 inhibit insulin secretion

Beta-2 stimulate insulin secretion

329
Q

HIV associated esophagitis may be caused by which pathogens?

A

Candida albicans-pseudomembranes

HSV-1-punched out lesions

CMV-linear ulcerations

330
Q

microcytic anemia, constipation, AMS, in setting of construction work is indicative of what?

A

Lead Poisoning

331
Q

Follicular lymphoma is associated with what transocation and etiology

A

t14;18

overexpression of Bcl-2

332
Q

Most common cause of coronary sinus dilation evident on echo is?

A

elevated right-sided heart pressure secondary to pulmonary HTN

333
Q

During afib, what regulates the number of atrial impulses that can reach the ventricle and determines ventricular contraction rate?

A

The atrioventricular node refractory period

334
Q

Definition of hamartoma and most common location of a hamartoma

A

excessive growth of a tissue type native to the organ of involvement

Lung is most common location with a solitary nodule “coin lesion” with “popcorn calcifications”

335
Q

MOA of entacapone and indication

A

COMT inhibitor used in parkinsons to decrease peripheral metabolism of levodopa

336
Q

Characteristics of pilocytic astrocytoma

A

cerebellum of a child

spindle cells with hair like glial processes associated with microcysts

mixed with rosenthal fibers and granular eosinophilic bodies

337
Q

Most important environmental risk factor for pancreatic cancer?

A

smoking

338
Q

Locations of SA vs AV node

A

SA: junction of Right atrium and SVC

AV: right atrium near septal cusp of tricuspid valve

339
Q

Why do patients with essential fructosuria not develop symptoms?

A

Fructose enter glycolysis via hexokinase

340
Q

What is linkage disequilibrium?

A

pair of alleles are inherited together in the same gamete more often or less often than would be expected given random pairing. Most often occurs in genes that are in close proximity

341
Q

Describe the histo features of a myxoma

A

scattered cells within a mucopolysaccharide stroma

342
Q

Thiazolidinediones MOA and result of use

A

activate PPARgamma receptor which alters transcription of genes involved in glucose and lipid metabolism

overall decreases insulin resistance

343
Q

Describe the pathogenesis of tertiary syphilis causing aortic aneurysm

A

vasa vasorum enarderitis and obliteration, resulting in inflammation, ischemia, and weakening of the aortic adventitia

344
Q

+ PYR test makes you think of what

A

S. pyogenes

345
Q

Cryptococcus neoformans most commonly causes what in immunocomprimised

A

most commonly meningoencephalitis but can also cause pneumonia

346
Q

Why are contractions between atria and ventricles totally disconnected in a 3rd degree block

A

because SA–>AV is blocked so SA controls atria and AV controls ventricles

347
Q

Other than disc herniation what may also narrow the spinal canal resulting in posture dependent lower extremity pain, numbness/paresthesia, and weakness?

A

ligamentum flavum hypertrophy, and osteophyte formation affecting facet joints

348
Q

Features of Patau syndrome (Trisomy 13)

A

Cutis aplasia (skin defect of scalp “punched out lesion with overlying thin membrane”)

microcephaly/holoprosencephaly

micropthalmia

cleft lip/palate

umbilical hernia/omphalocele

polydactyly

cardiac defects

renal defects

umbilical hernia/omphalocele

rocker bottom feet

349
Q

characteristics of diastolic HF

A

normal LV ejection fraction

normal LV end-diastolic volume

elevated LV filling pressures

350
Q

symptoms of significant hypokalemia

A

muscle cramps, weakness, and possible rhabdomyplysis

351
Q

Do Benzos bond competitively to GABA receptor or allosterically?

A

Allosterically facilitating increased frequency and inhibition of GABA

352
Q

bursts of non-rhythmic conjugate eye movements in a child with myoclonus should make you think of what

A

Neuroblastoma (opsoclunus-myoclonus syndrome)

353
Q

APL is associated with which translocation?

A

t15;17

354
Q

baby presents with vomiting lethargy jaundice and E. coli sepsis soon after starting breastfeeding and doc recommends switching to soy milk…what dx?

A

Classic galactosemia from deficiency of galactose-1-phosphate uridyl transferase

accumulation of galactose-1-phosphate is responsible for impaired liver function

355
Q

MOA of amphotericin B

A

binds ergosterol of fungal cell membrane and cholesterol in cell membrane of human tissues resulting in toxicity

nephrotoxicity, hypokalemia, and hypomagnesemia

356
Q

Other than lithium what should be considered first line for bipolar

A

Valproate

357
Q

What is insulin’s effect on glucagon?

A

SUPRESSES GLUCAGON RELEASE

358
Q

What is conversion disorder?

A

neurological symptoms that are incompatible with a neurological disease

359
Q

Baby who presents with retinal hemorhages is concerning for what???

A

Abusive head trauma (shaken baby syndrome)

subdural hemorrhage (due to tearing of bridging veins) and retinal hemorrhages are concerning signs

360
Q

Progressive onset of heart failure in the setting of a recent viral infection should raise suspicion for??

A

Dilated cardiomyopathy caused by viral myocarditis

myocardial inflammation leads to dilation and enlargement of the heart chambers (eccentric hypertrophy) witih decreased ventricular contractility (systolic dysfunction)

361
Q

What are mycoplasma cold agglutinins

A

antibodies against mycoplasma antigen that are also reactive against RBCs causing lysis and anemia

362
Q

Pt with inferior MI and bradycardia given med to increase HR. What med and what scary side effect should be watched for?

A

Atropine blocks vagal stimulation on SA/AV node increasing HR

Beware of ACUTE ANGLE CLOSURE GLAUCOMA

363
Q

Meconium ileus is associated with what dz?

A

CF

364
Q

Nursemaid’s elbow is due to damage of what elbow structure?

A

tear of the annular ligament

365
Q

Other than glutathione reduction, what is NADPH used for in the cell?

A

biosynthesis of cholesterol and FAs and steroids

366
Q

What would you see on imaging of primary TB?

A

Ghon complex

lower lobe lung lesion and ipsilateral hilar lymphadenopathy

367
Q

When do you use a Chi-square test?

A

to evaluate the association between two categorical variables (qulaitative variables like disease status, blood type etc)

368
Q

zenker diverticulum in the esophagus of an old person is probably due to what?

A

diminished relaxation of cricopharyngeal muscles resulting in increased intraluminal pressure in the oropharynx causing the mucosa to herniate through a zone of muscle weakness

presents as dysphagia, halitosis, regurgitation, and recurrent aspiration

369
Q

Pt presents with hypotension, JVD, tachycardia, clear lungs, and pulsus paradoxus. Dx?

A

Cardiac tamponade

also may note distant heart sounds

370
Q

PI3K–> PIP2 to PIP3–>Akt results in what?

A

activation of mTOR which translocates to the nucleus and induces genes involved in cell survival, anti-apoptosis, and angiogenesis

mTOR activation is inhibited by PTEN (tumor suppressor removes phosphate from PIP3)

371
Q

Why does silicosis put you at an increased risk for TB?

A

silicosis impairs macrophages (macrophage phagolysosome defective due to all the silica particles)

372
Q

Orotic aciduria can be treated with supplement of what?

A

Uridine supplementation as uridine is converted to UMP via nucleoside kinases

373
Q

What are the most effective agents in treating hypertriglyceridemia?

A

Fibrates

statins are preferred for prevention of cardiovascular disease they only modestly lower triglyceride levels

374
Q

With an uncal herniation will you have hypo or hyperreflexia?

A

initially flaccid paralysis and hyporeflexia and then develop hyperreflexia days to weeks following acute upper motor neuron damage

375
Q

What is Von Hippel-Lindau disease?

A

rare auto dom

capillary hemangioblastomas in retina and or cerebellum, congenital cysts and/or neoplasms in the kidney, liver, and pancreas

also increased risk for RCC which can be bilateral

376
Q

What is the difference between somatic and germline mosaicism?

A

in somatic there will be disease manifestations (most commonly 45X/46XX affecting the sex chromosomes)

in germline there is no disease manifestation and the cells that give rise to gametes are effected and passed to offspring

377
Q

baby presents with hypogonadism (boy appearing female, girl appearing normal) with HTN and hypokalemia. Dx?

A

17a-hydroxylase deficiency impairs synthesis of androgens, estrogens, and cortisol but not mineralocorticoid

378
Q

Which triglyceride lowering drug can induce gallstones

A

fibrates

reduce cholesterol solubility and promote gallstone formation by reducing bile acid synthesis

379
Q

explain the findings of secondary hyperparathyroid due to kidney disease

A

decreased kindey function leads to less phosphate excreted. Increased serum phosphate binds up calcium activating PTH

increased phosphate
decreased Ca
increased PTH

increased phosphate levels also reduce calitriol synthesis resulting in decreased intestinal calcium and phosphate absorption

380
Q

Acanthosis nigrans is associated with?

A

insulin resistant states and GI malignancies

381
Q

which BPH drug is also used for balding?

A

Finasteride

382
Q

describe presenting symptoms of ALS

A

Combined UMN and LMN de cits with no sensory or bowel/bladder de cits (due to loss of cortical and spinal cord motor neurons, respectively).
Can be caused by defect in superoxide dismutase 1. Commonly presents with asymmetric limb weakness (hands/feet), fasciculations, eventual atrophy. Fatal.

tx: riluzole

383
Q

What are the clinical manifestations of VitE deficiency?

A

ataxia, impaired proprioception and vibratory sensation, and hemolytic anemia

384
Q

What is Rheumatoid factor? What other labs are typically seen in RA?

A

RF is an antibody (typically IgM) specific for the Fc component of IgG

anti-citrullinated protein antibodies (ACPAs) are also seen.

RF binds circulating IgG and ACPAs bind modified self proteins, forming immune complexes that deposit in the synovium and cartilage. These activate complement and contribute to chronic inflammation and joint destruction

CRP and ESR correlate with disease activity

385
Q

What is the mechanism behind dyspnea in left HF? what is the consequence of fluid in the lungs?

A

fluid in the pulmonary interstitium causes distortion (swelling) of the affected tissue, increasing resistatance to movement (decreased lung compliance)

386
Q

A history (family) of sarcoma, leukemia, adrenal and breast cancer is suggestive of?

A

Li-Fraumeni syndrome

AD mutation in TP53

cancers of the brain are also common

pt’s inherit 1 mutation and somatic mutation results in disease (2 hit hypothesis)

387
Q

What is the cause and what are the findings associated with methylmalonic acidemia?

A

cause is partial or complete deficiency of methylmalonyl-CoA mutase

newborn will present with lethargy, vomiting, and tachypnea

Labs: hyperammonemia, ketotic hypoglycemia, and metabolic acidosis. Dx confirmed by elevated urine methylmalonic acid and propionic acid

388
Q

pathophys of AAA

A

risk factors (age >60, smoking, HTN, male sex, family hx) lead to oxidative stress, vascular smooth muscle apoptosis, and CHRONIC TRANSMURAL INFLAMMATION of the aorta

389
Q

Describe the blood supply to the ureter

A

proximal-renal artery

distal-superior vesical artery

(middle is variable and anastomotic

390
Q

What is the drug of choice to treat trigeminal neuralgia?

A

Carbamazapine

391
Q

The erythema and diffuse edema in peau d’ orange can be mistaken for mastitis but is really due to what

A

cancerous cells OBSTRUCTING LYMPHATIC DRAINAGE

392
Q

What is the preferred method for dx of DM1?

A

fasting blood glucose or hemaglobin A1c

oral glucose tolerance is screening for gestational diabetes and CF related diabetes

393
Q

What is the site for femoral nerve block?

A

inguinal crease at the lateral border of the femoral artery

394
Q

Administration of what drug would result in increased cardiac contractility and decreased peripheral resistance?

A

Isoproterenol works on B1 and B2

395
Q

Hypertrophic cardiomyopathy is commonly due to mutation in what?

A

AD: single point missense mutation in genes for beta-myosin heavy chain and myosin-binding proteinC

396
Q

Pt presenting with knee trauma, foot dorsiflexed and inverted is most likely an injury to what nerve?

A

tibial

also results in sensory loss on the sole

397
Q

which vitamin supplementation is beneficial in treating measles?

A

Vit A

398
Q

Cacinoid syndrome can be diagnosed by measure increased what in the urine?

A

5-hydroxyindoleacetic acid (5-HIAA)

399
Q

What is the most common cause of spontaneous lobar hemorrhage, especially in the elderly?

A

Cerebral amyloid angiopathy

(beta amyloid gets deposited in small to medium sized cerebral arteries resulting in vessel wall weakening and predisposition to rupture)

400
Q

Cholesteatomas are made of what?

A

Squamous cell debris

401
Q

Cumulative incidence is calculated by?

A

NEW CASES over a specific period / # at risk at the beginning of that period

does not account for deaths (those people were still part of the population at risk at the beginning)

402
Q

Lung tissue of pt with pleuritic chest pain shows spherules containing endospores, dx?

A

Coccidioides immitis

endemic in SW US (southern and central California, Arizona, New Mexico, and Western Texas)

403
Q

Hyperparathyroidism causes what bone changes?

A

Osteitis fibrosa cystica: bone pain, subperiosteal erosions affecting the phalanges of the hand, a “salt-and-pepper” skull, and brown tumor bone cysts (consisting of osteoclasts and deposited hemosiderin from hemorrhages; causes
bone pain)

404
Q

White/yellow membrane like plaques on colonoscopy are virtually pathopneumonic for what? (pt with bad diarrhea)

A

C. dif

405
Q

Pt’s treated with atropine are still at risk for what following organophosphate poisoning?

A

Muscle paralysis because atropine only works at muscarinic receptors and not the nicotinic receptors

pralidoxime is the only med that reverses both muscarinic and nicotinic effects by “restoring” cholinesterases

406
Q

MOA of colchicine

A

inhibits leukocyte migration and phagocytosis by blocking tubulin polymerization

407
Q

Glucagonoma will present with what symptoms

A

hyperglycemia (often as newly dxed DM) and necrolytic migratory erythema (blistering erythematous plaques with central clearing) affecting the groin, face, and extremities

dx by detecting elevated glucagon levels

408
Q

craniopharyngeomas arise from what tissue?

A

remnants of rathkes pouch NOT A PITUITARY ADENOMA

409
Q

G6PD deficiency follows what inheritance pattern?

A

X rec

410
Q

different features of hyperacute, acute, and chronic rejection

A

hyperacute: minutes to hours, preformed Abs (type II HS)

Acute: weeks to months (<6 mos) CD8 Tcells against donor MHC. Abs form after transplant

Chronic: months to years, host CD4 presented with graft on APC (type II and IV HS)

411
Q

What are the features of friederich ataxia

A

auto rec mutation in frataxin gene (FXN) which encodes a mito protein involved in assembly of iron sulfur enzymes

spinocerebellar and lateral corticospinal tract degeneration–> gait ataxia and spastic muscle weakness

degeneration of dorsal columns and dorsal root ganglia–> loss position and vibration

Kyphoscoliosis and foot abnormalitites (pes cavus - high arch)

hypertrophic cardiomyopathy and CHF

Diabetes mellitus in 10%

412
Q

What are the three phases of Paget disease progression

A
  1. osteolytic (osteoclastic dominant) phase: increased osteoclasts that appear abnormally large with an excessive number of nuclei. increased resorption is prominent
  2. mixed (osteoclastic and blastic) rapid increase in osteoblastic bone formation. disorganized lamellar and woven bone
  3. osteosclerotic (osteoblast dominant) phase: continued osteoblastic bone formation and remodeling that result in a dense, hypovascular, MOSAIC PATTERN of lamellar bone with irregular, haphazardly oriented sections seperated by prominent CEMENT LINES
413
Q

mechanism behind increased incidence of cholelithiasis in women who are pregnant or using oral contraceptives?

A

estrogen induced cholesterol hypersecretion and progesteron incudec gallbladder hypomotility

414
Q

What are the serious side effects of statins and what lab should be checked prior to therapy?

A

myopathy and hepatitis

LFTs

415
Q

preventable side effect of acyclovir?

A

crystalline nephropathy, can be avoided with adequate hydration

416
Q

useful medications in treating BPH with HTN?

A

alpha1 blockers: Doxazosin, Prazosin, Terazosin

CAD with HF anf HTN benefit from selective beta blockers. HCTZ first line for essential HTN

417
Q

tinea versicolor (pityriasis versicolor) caused by ?

A

Malassezia species

dx by KOH prep

“spaghetti and meatball” on light microscopy

418
Q
elderly pt with one or more of the following is suspicious for?
fatigability (due to anemia)
constipation (due to hypercalcemia)
Bone pain, most commonly back and ribs
elevated serum protein
renal failure
A

Multiple myeloma

bence jones proteins can result in casts that cause tubular obstruction and epithelial cell injury. light microscopy will show numerous large, glassy casts that stain intensely eosinophillic

419
Q

Causes of elevated CK?

A

hypothyroidism (hypothyroid myopathy)

autoimmune (polymyositis, dermatomyositis), muscular dystrophies, and medications such as HMG-CoA reductase inhibitors

420
Q

Which area of the aorta is most susceptible to injury in trauma like MVA?

A

aortic isthmus (just before descending) because tethered by the ligamentum arteriosum so relatively fixed and immobile compared to surroundnig aorta

421
Q

Atherosclerotic plaques develop predominantly in which arteries?

A

large elastic arteries (aorta, carotid, and iliac) and in large or medium sized muscular arteries (coronary and popliteal)

In humans most heavily involved vessel is abdominal aorta followed by coronary arteries, popliteal, internal carotids, and circle of willis

422
Q

Diphenoxylate MOA?

A

opioid antidiarrheal binds mu opiate receptors in the gut to slow motility

overuse leads to euphoria and physical dependence

423
Q

What are the cephalosporin resistant organisms?

A

listeria monocytogenes, MRSA, and enterococci have resistant PBPs

atypicals like mycoplasma and chlamydia (no cell wall)

424
Q

What is a normal finding in the work up of ARDS

A

normal pulmonary capillary wedge pressure

(abnormals include: increased pulmonary capillary permeability, decreased lung compliance, increased work of breathing, and worsened ventilation to perfusion mismatching)

425
Q

Difference between oppositional defiance disorder and conduct disorder?

A

Conduct more severe with aggression, cruelty to animals, destruction of property, stealing, and deceit

426
Q

Transplant pt that presents with odynophagia or dysphagia that can be accompanied by fever or burning chest pain?

A

CMV esophagitis

endoscopy shows linear shallow ulcerations in lower esophagus and histology usually shows enlarged cells with intranuclear inclusions

427
Q

What is the term that is not active alone but allows another drugs to have maximal response in its presence

A

permissive

(in contrast to synergistic where drugs are both active alone and have additive effects together

428
Q

origin of aspiration causing pathology in hours vs weeks

A

oral aspiration pneumonia resulting in lung abcess weeks later

gastric aspiration results in chemical pneumonitis within hours

429
Q

severe opthalmopathy (worsening diplopia, extraocular muscle involvement, and exposure keratitis) in graves is treated with what?

A

high dose steroids

430
Q

waxing and waning lymphadenopathy in an adult is characteristic of ?

A

follicular lymphoma

t(14;18) bcl-2 overexpression

NHL Bcell origin

431
Q

IgE independent mast cell activation occurs with what?

A

medications (such as opioids, radioconstrast, and some antibiotics)

diffuse itching and pain, bronchospasm, and localized swelling

432
Q

difference between junctional nevus, compound nevus, and intradermal nevus

A

junctional: confined to epidermis at dermal junction
compound: epi and dermal
intradermal: only dermal involvement

433
Q

Approximately half of all lambert eaton pts have what associated malignancy?

A

Small cell carcinoma of the lung

434
Q

Most important risk factor for aortic dissection and intimal tears?

A

HTN

435
Q

which bacterial toxins activate EF2 via ribosylation

A

diptheria toxin and exotoxin A (pseudomonas)

436
Q

what is given in the treatment of CAH?

A

low dose exogenour corticosteroids to suppress excessive ACTH secretion and reduce stimulation of the adrenal cortex

437
Q

Drug-induced parkinsonism is an extra-pyramidal symptom that can be treated with what medication?

A

antimuscarinic (trihexyphenidyl, benztropine)

park my benz at the pyramid

438
Q

myopathy, cardiomyopathy, and hypoketotic hypoglycemia in the setting of decreased carnitine is consistent with ?

A

primary carnitine deficiency

cant make ketone bodies when glucose is low

439
Q

What are the symptoms of Bells palsy?

A

unilateral facial paralysis, decreased tearing, hyperacusis, loss of taste sensation over the anterior two-thirds of the tongue

440
Q

arsenic, thorotrast, and polyvinyl chloride result in what tumor expressing CD31 (PECAM-1)

A

Hepatic angiosarcoma

441
Q

Cryptococcus neoformans staines red with what stain?

A

Mucicarmine

442
Q

communicating hydrocele results in fluid accumulation in what layer of the testicle?

A

tunica vaginalis

443
Q

Which antihypertensive should be used with caution in diabetics?

A

non-selective beta blockers

they mask adrenergic symptoms by epi and norepi. better to use selective beta1 blocker

444
Q

What is the mechanism behind DIC post deliver?

A

placental injury results in release of tissue factor into maternal blood, initiating the coag cascade, excessive production of thrombin, and widespread intravscular fibrin deposition and fibrinolysis

445
Q

A tall boy presenting with gynecomastia and found to have hypogonadism on exam is suspicious for ?

A

Klinefelter

decreased testosterone
increased LH and FSH
increased estradiol

446
Q

Pt with hx of UC presents with abdominal pain/distension, bloody diarrhea, fever, and signs of shock…what do you suspect and what order first?

A

suspect toxic megacolon order abdominal Xray in hopes to see colonic dilation and multiple air-fluid levels

447
Q

Following a subarrachnoid hemorrhage what drug should be considered?

A

CCBs (specifically Nimodipine) to decrease risk of cerebral vascular spasm

448
Q

young otherwise healthy patient presents with fatigue, progressive dyspnea, and atypical chest pain or unexplained syncoope is suspicious of?

A

Pulmonary HTN

449
Q

Rifaximin is used in conjunction with lactulose to tx hepatic encephalopathy, what is it’s mechanism of action?

A

antibiotic (nonabsorbable) alters GI flora resulting in decreased intraluminal ammonia production

450
Q

Aprepitant and Fosaprepitant are used to treat what?

A

prevent substance P release (NK1 receptor antagonists) used in conjunction with other antiemetics for chemo induced N/V

451
Q

Describe the mechanism of Sheehan syndrome

A

peripartum hemorrhage results in pituitary ischemic necrosis

452
Q

Latissimus dorsi is inervated by which nerve?

A

Thoracodorsal

453
Q

in addition to decreased Ecadherins, which enzyme is elevated to help invasion of the BM?

A

Metalloproteinases

454
Q

in addition to the small joints of the hand what other joints are often involved in RA?

A

cervical spine!

455
Q

how does ARDS develop?

A

initial injury involving the alveolar pneumocytes (like smoke inhalation) and/or pulomanry endothelium (sepsis), with subsequent recruitment of neutrophils to the lungs

456
Q

list the cardiac tissue with the fastest to slowest conductance

A

fastest: purkinje system–>Atrial muscle–>Ventricular muscle–>AV node:slowest

“Park At Venture Ave”

457
Q

What is Globus sensation?

A

sensation of a foreign body, tightness, or fullness in the throat. functional disorder of the esophagus not due to any structural or mobility abnormality.

458
Q

Crystal arthropathy is another name for what pathology?

A

Gouty arthritis

459
Q

Chocolate ovarian cyst is due to?

A

endometriosis

460
Q

A pregnant woman should not receive what vitamin supplementation?

A

Vit A. It is teratogenic especially in the first trimester

fetal microcephaly, cardiac abnormalities, early epiphiseal closure, growth retardation, and spontaneous abortion

461
Q

the -tamivir drugs to treat influenza act via what mechanism?

A

inhibit neuraminidases thereby preventing viral release and spread

462
Q

what is Jimson weed?

A

Datura stramonium is a drug of abuse. Suspect in a young individual presenting with anticholingergic OD sx’s

(fever, dry skin and mucous membranes, flushing, blurred vision, and altered mental status)

463
Q

When would you suspect germline mosaicism?

A

genetic mutation identified in the offspring but not the parents

germline mosaicism means multiple genetically different gamete cell lines-one or all offspring may be affected depending on proportion of gametes containing mutation

464
Q

What diseases are the following translocations associated with?

t(8;14)
t(9;22)
t(12;21)
t(14;18)
t(15;17)
A

8;14-Burkitt lymphoma

9;22-CML

12;21-ALL

14;18-follicular lymphoma

15;17-AML (APL)

465
Q

Injury to what structure is most concerning in an anterior or posterior knee dislocation?

A

Popliteal artery: because the vessel is rigidly fixed proximal and distal to the knee joint by the adductor magnus and soleus muscles, respectively.

466
Q

In what tissue segment of the penis do phosphodiesterase inhibitors work?

A

in the corpora cavernosa they result in smooth muscle dilation and subsequent engorgement

467
Q

Winged scapula is due to paralysis of what muscle?

A

serratus anterior (long thoracic nerve)

468
Q

Secretin results in what change in the pancreas flow and secretion

A

secretin will increase flow and increase HCO3 secretion for Cl exchange

469
Q

What is the difference between PTSD and acute stress disorder?

A

time
ASD more than 3 days less than 1 month

PTSD more than one month

470
Q

Difference between brief psychotic disorder, schizofreniform disorder, schizophrenia, and schizoaffective disorder

A

BSD: greater than 1 day less than one month psychotic sx’s with full return to normal

schizofreniform: greater than one month less than 6 months same symptoms as schizophrenia, functional decline NOT required

Schizophrenia: AT LEAST 6 months sx’s with functional decline

Schizoaffective: concurrent mood episode with schizo sx’s but had schizo sx’s alone prior for at least 2 weeks w/o mood sx’s

471
Q

What is the criteria for delusion disorder?

A

one or more delusions >1 month. no other sx’s. normal fxning

472
Q

What is false positive rate?

A

number of false positives EXPECTED based off study

calculated as 1-specificity

473
Q

Acute intermittent porphyria is calculated as a deficiency in what enzyme?

A

porphobilinogen deaminase

results in intermittent episodes of abdominal pain with neurological manifestations following exposure to an offending medication. During attacks urine will darken when exposed to sunlight

474
Q

what is the name of vitamin B12?

A

Cobalamin

475
Q

Myasthenia gravis is commonly associated with what tumor?

A

Thymoma

476
Q

Dandy Walker malformation is characterized by?

A

hypoplasia/absenceof the cerebellar vermis and cystic dilation of the fourth ventricle with enlargement of the posterior fossa

477
Q

Complete androgen insensitivity is charachterized by what? how is it inherited?

A

characterized by male genotype, female phenotype with external female genitalia and a vagina ending in a blind pouch. testosterone and LH will be high while FSH is normal

478
Q

Treatment for pheochromocytoma?

A

Phenoxybenzamine

479
Q

Intraventricular hemorrhage in a pre-mature baby born vaginally is most likely due to what?

A

germinal matrix fragility

germinal matrix is a dense, highly cellular, vascularized layer of the brain that starts disappearing at 28 weeks gestation and disappears starting at 28 weeks (fully gone by term)

480
Q

What cardiac med can cause slowly progressive dyspnea, fever, cough, and patchy interstitial infiltration on radiograph

A

amiodarone induced interstitial pneumonitis

481
Q

difference in phenotype among those carrying same mutation is called?

A

variable expressivity

some patients have milder symptoms than others

482
Q

how do nitrates effect LV EDV and overall HR?

A

vasodilation reduces preload which decreases EDV and pressure (decreases oxygen demand)

also causes reflexive increase in HR

483
Q

Why is there a difference in bronchial secretions and sweat in those with CF

A

CFTR has tissue specific functionality. electrolye differences are a result

484
Q

dx of pt with hypocalcemia, hyperphosphatemia, and hyperPTH

A

Pseudohypoparathyroidism due to end organ resistance to PTH

Albright hereditary osteodystrophy is pseudohypoparathyroidism with short stature and short metacarpal and metatarsal bones

485
Q

pre-proinsulin has an N-terminal sequence which means it gets sent where?

A

rough ER

486
Q

branched chain ketoacids in the urine is characteristic of MSUD (branched-chain alpha-keto acid DH complex deficiency) which requires what cofactor?

A

Thiamine (B1)

487
Q

describe the cell morphology of alpha thalessemia?

A

NOT SICKLE CELLS

hypochromic microcytic cells

488
Q

Hyperhidrosis aka excessive sweating is a fxn of the SNS. postganglionic CHOLINERGIC neurons innervate sweat glands. Ablation of what nerves can treat severe cases?

A

thoracic sympathetic truck ablation treats severe axillary hyperhidrosis

489
Q

red safrinin O stains what tissues red?

A

cartilage, mast cell granules, and mucin red.

490
Q

How will a PE effect serum pH, PaCO2, and PaO2?

A

PE will result in hypoxemia (V/Q mismatch), decreased CO2 (hypoxemia triggers hyperventilation), and respiratory alkalosis (due to loss of CO2)

491
Q

describe the progression of idiopathic pulmonary hypertension

A

injury to pulmonary endothelium–>narrowing of pulmonary vascular bed and RV hypertrophy–>accelerated vascular injury secondary to increased pulmonary artery pressure–> further rise in right ventricular afterload–>dilation of RV

after RV hypertrophy clinical manifestations include exertional dyspnea, angina, peripheral edema, increased intesnsity of the second heart sound (pulmonic component), a systolic ejection murmur, right ventricular heave

492
Q

Heavy menstrual bleeding should be a knee jerk for what uterine pathology?

A

uterine fibroids

submucosal/intracavitary fibroids are associated with anemia

493
Q

elderly pt with hx of cardiovascular dz presents with crampy abdominal pain, tender to palpation, and bloody stools. Knee jerk?

A

Ischemic collitis due to decreased perfusion

494
Q

hypoketotic hypoglycemia with fasting…?

A

MCAD

medium chan acyl coA DH deficiency

495
Q

What is hand-foot-genital syndrome?

A

rare auto dom malformation of distal limbs, hypoplastic first digits, mullerian fusion abnormalities caused by HOXA13 gene mutations