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uWorld 22 Flashcards

1
Q

what is the inheritance of hereditary spherocytosis

A

AD

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2
Q

RBC nuclear maturation defect due to defective DNA synthesis is seen in what

A

megaloblastic anemia (B12 or folate deficiency)

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3
Q

what kind of midline abdominal protrusion is seen in Downs Syndrome

A

uncomplicated umbilical hernia (incomplete closure of the umbilical cord)

duodenal atresia also seen (failure of recanalization that has bilious vomiting in first 24 hours of life)

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4
Q

what causes an uncomplicated umbilical hernia and what is seen in it

A

defect at linea alba covered by skin

reducible budge at umbilicus, notably with increased abdominal pressure (crying, passing bowel movements)

resolve spontaneously

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5
Q

uncomplicated umbilical hernia is associated with what conditions

A

down syndrome
hypothyroidism
Beckwith-Wiedemann snydrome (WT2 mutation- Wilms tumor, macroglossia, hemihypertrophy, organomegaly)

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6
Q

failure of extra embryonic gut to return to the abdominal cavity is seen in what condition(s)

A

omphalocele (midline herniation of abdominal contents contained within a thin, membranous sac)
gastroschisis (full thickness abdominal wall defect that presents as an evisceration of exposed abdominal contents at birth)

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7
Q

incomplete rotation of the midgut in utero often results in what

A

incomplete rotation of the midgut prior to physiological reduction into the abdominal cavity
alone asymptomatic but main complication is ISCHEMIA and subsequent small bowel NECROSIS due to VOLVULUS (twists and constricts the blood supply)

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8
Q

the normal distribution of individual observations of a variable (like blood folate levels) can be described how

A

mean and standard deviation

mean +/- (z-score)*SD
a z-score of 1.98 would cover 95% of all observations; 2.58 would cover 99% of all observations

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9
Q

what is the confidence interval

A

range of values within which one can be confident that the true mean of the underlying population falls

mean +/- (z-score)*SD/sqrt(n)

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10
Q

whats the difference b/w standard deviation and standard error

A

standard deviation: reflects spread of individual values in a normal distribution

standard error of the mean: reflects variability of means and helps estimate the true mean of the underlying population

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11
Q

what does acute humoral (B-cell) rejection cause in the pt

A

NECROTIZING VASCULITIS with a NEUTROPHILIC infiltrate

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12
Q

what reduces graft vs host disease

A

exact HLA matching

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13
Q

significant hypokalemia (like that caused by thiazide diuretics)

A

MUSCLE WEAKNESS
cramps
possible rhabdomyolysis

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14
Q

hypovolemia stimulates reabsorption of what in the proximal tubule and what does this cause

A

hyperuricemia

potentially precipitate a gout attack (acute monoarticular arthritis)

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15
Q

hypophosphatemia can cause what and is commonly seen in whom

A

muscle weakness and paralysis

seen in alcoholics

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16
Q

what is seen with acute hyponatremia

A

nausea
malaise
headache
CNS symptoms (altered mental status, seizures)

muscle cramps more common in chronic hyponatremia

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17
Q

oral aspiration lung abscesses is commonly seen in whom

A 
loss of consciousness or DYSPHAGIA:
alcoholics
SEIZURE DISORDERS
drug overdose
prolonged anesthesia
severe neurologic disease

fever, night sweats, weight loss, and cough productive of FOUL-SMELLING SPUTUM (indicative of anaerobes)

often mixed aerobic and anaerobic oral flora:
Peptostreptococcus, Prevotella, Bacteroides, and Fusobacterium

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18
Q

what are the predisposing factors to lung abscesses as complication of bacterial pneumonia
what are the bugs that do it

A

immunosuppression, old age, underlying chronic lung disease

necrotizing pneumonias are usually nosocomial and caused by Staph Aureus, E Coli, Klebsiella pneumoniae, Pseudomonas aeruginosa

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19
Q

lung abscesses that develop in pts with septicemia or infectious endocarditis (hematogenous spread of infection to the lung)

A

multiple abscesses and mono microbial

staph and strep are common causative agents (also in penetrating trauma)

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20
Q

tobacco smoking compromises pulmonary defenses and predisposes patients to developing pneumonia from what pathogens

A

community acquired pneumonia
Step pnuemoniae
Mycoplasma Pneumoniae (both are less likely to cause lung abscess)

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21
Q

what are the most frequent cause of lung abscess

A 
bacteria normally found in the oral cavity:
Peptosteptococcus
Prevotella
Bactericides
Fusobacterium

aspiration risk: alcoholism, drug abuse, seizure disorders, stroke, dementia

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22
Q

what is heterozygous familial hypercholesterolemia

A

AD LDL receptro defect that causes high LDL levels and increases the risk of PREMATURE ATHEROSCLEROSIS

homozygous is more severe form of disease: often present with coronary heart disease in childhood/adolescence

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23
Q

what are the steps of southern blotting

A
  1. DNA extraction form individuals cells
  2. RESTRICTION ENDONUCLEASE DIGESTION of the DNA sample into fragments
  3. gel electrophoresis to separate the various sizes of DNA fragments; larger fragments move slowly and shorter fragments faster
  4. DNA probe (a single-stranded segment of labeled DNA complementary to the gene of interest) to identify the target gene
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24
Q

what happens when allopurinol and azathioprine are used together

A

allopurinol blocks xanthine oxidase (TPMT) which degrades azathioprine to its inactive metabolites

azathioprine is then converted via HGPRT to its active metabolite (6-THIOGUANINE)

when known this can amplify the effect while decreasing dose of azathioprine
when unrecognized this can contribute to death nd opportunistic infections

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25
Q

what is seen in asbestos-related plural disease

A

PLEURAL THICKENING
CALCIFIED LESIONS (pleural plaques) of the parietal pleural /w 6th and 9th ribs
benign PLEURAL EFFUSIONS

found in posterolateral MIDLUNG Zones

commonly 20 to 30 year latency between asbestos exposure and onset of symptoms

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26
Q

what is seen in asbestosis

A

slowly progressive, diffuse pulmonary fibrosis
interstitial lung injury due to fiber inhalation usually in LOWER pulmonary ZONES and manifests radiographically as LINEAR INTERSTITIAL DENSITIES

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27
Q

what is seen in pulmonary berylliosis

A

closely resembles sarcoidosis (nodular infiltrates, enlarged lymph nodes, noncaseaseitng granulomas)
not strongly associated with pleural plaques or effusinos

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28
Q

what is seen in coal workers pneumoconiosis

A

biologically as multiple discrete nodules (1-4mm), most prominent in the UPPER lung ZONES
no plaques or effusions

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29
Q

nitrogen dioxide (NO2) is a toxic product of combustion that who is at risk for? and how does it resent

A

firefighters, welders, and farm silo workers are at risk

presents similar to asthma or chronic obstructive pulmonary disease and imaging may reveal pulmonary edema

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30
Q

what is seen in hypersensitivity pneumonitis

A

inhalation of organic dusts tends to result in DIFFUSE NODULAR INTERSTITIAL infiltrates on chest x-ray
no plaques or nodules

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31
Q

what is seen in pulmonary silicosis

A

nodular densities

EGGSHELL calcification of the HILAR NODES are seen

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32
Q

when should children understand the concept of gender

A

age 3-4
sense of permanency of gender around 5-6

developmentally NORMAL to EXPLORE the world by engaging in ACTIVITIES associated with the OPPOSITE GENDER

33
Q

what is gender DYSPHORIA

A

the PROLONGED and INTENSE feeling the person’s gender DOES NOT MATCH one’s ASSIGNED BIRTH SEX

if strongly expressed, more likely to continue into puberty

increased rates of psychiatric illness, including depression anxiety, and need monitoring and support

dislike of own genitalia and persistent desires to be the opposite sex

34
Q

where do stimulants like amphetamines and methylphenidate are first-line treatments for school-age children with ADHD

A

INCREASING RELEASE of NOREPI and DOPAMINE from vesicular storage sites and BLOCKING norepi and dopamine REUPTAKE at synapses in the PREFRONTAL CORTEX

35
Q

drug transfusion reactions (anaphylaxis) are seen in what immunodeficiency

A

selective IgA deficiency

36
Q

what are the clinical features and diagnostics for selective IgA deficiency

A

usually asymptomatic
recurrent SINOPULMONARY and GI infections
autoimmune disease (celiac)
anaphylaxis during TRANSFUSIONS (from IgE antibodies to IgA aka anti-IgA antibodies)

low or absent serum IgA levels
normal IgG and IgM levles

37
Q

what happens to people with C1 deficiency during transfusions

A

hereditary angioedema but do not have urticaria or wheezing like ppl with Ig-A deficiency

38
Q

what is the MOA of terbinafine

A

inhibition of squalene epoxidase (and thus ergosterol synthesis)

used to treat dermatophytosis

drug tends to accumulate in skin and in appendages

39
Q

low haptoglobin levels are a sign of what

A

hemolytic anemia

also see increased direct bilirubin and lactate dehydrogenase

40
Q

what are the signs of thrombocytopenia

A

easy bruisability
petechiae
mucocutaneous hemorrhage (recurrent epistaxis, gingival hemorrhage)

41
Q

what does a platelet function analyzer (PFA-100) test monitor

A

the time needed for a patients blood to form a platelet-based hemostatic plug in an in vitro environment

abnormal values seen in VON WILLEBRAND DISEASE, inherited/acquired platelet dysfunction (NSAID use), and THROMBOCYTOPENIA

42
Q

what is the thrombin time and when is it increased

A

rate of conversion of fibrinogen to fibrin
prolonged in pts with deficient or defective fibrinogen, can be congenital or acquired

most common cause of dysfibrinogenemia is liver disease

43
Q

what are the cardiac and smooth muscle effects of milrinone

A

PDE3 inhibitor

cardiac muscle: positive INOTROPY

smooth muscle: VASODILATION (arterial and venous)

44
Q

what is hydrocephalus ex vacuo

A

normal ICP and increased dilation of ventricles secondary to cortical atrophy
occurs most offend in elderly patients with dementia

45
Q

what is seen in pseudotumor cerebri

A

elevated ICP and classical occurs in YOUNG women who are OVERWEIGHT
thought to be related to cerebral venous outflow abnormalities due to elevated intracranial pressures

46
Q

severe pharyngitis with exudates and cervical lymphadenopathy in a group of people with unknown vaccination status should raise suspicion for what

A

respiratory diphtheria infections

toxin can cause MYOCARDITS and HEART FAILURE

47
Q

how does the hyperammonemia occur in liver cirrhosis

A

increased levels of nitrogenous substances absorbed by the gut

Gi bleeding or increased dietary protein causes increased nitrogen delivery to the gut in the form of hemoglobin, which is then converted to ammonia and absorbed into the bloodstream

ammonia enters the liver through the portal vein and is detoxified to urea (but liver CANT DETOXIFY IT in failure)

48
Q

what is used to lower the ammonia levels in hepatic encephalopathy

A

lactulose or RIFAXIMIN

49
Q

accumulation of BUN is suggestive of what

A

renal failure
heart failure
dehydration
Gi bleeding (in healthy patients, decreased in ppl with liver disease)

50
Q

in hepatic encephalopathy what happens to neurotransmitter levels

A

increased inhibitory neurotransmission (GABA)

decreased excitatory neurotransmitter relate (glutamate, catecholamines)

51
Q

how does left ventricular preload reduction effect regurgitant flow

A

if degree of mitral valve incompetence is volume dependent it may DECREASE
if non-volume-dependent causes of mitral regard (congenital, annular calcification) are not affected

52
Q

what is an encapsulated gram negative bacilli that grows pink-colored mucoid colonies on MacConkey Agar (and thus is lactose fermenting)
(typically causing right UPPER LOBE pneumonia in alcoholics and other immunocompromised)

A

Klebsiella pneumoniae

characteristic mucoid growth on cloture

thick, mucoid, blood-tinged sputum (CURRANT JELLY SPUTUM)

lung tissue necrosis with early abscess formation

right upper lobe b/c aspiration typically happen while sleeping

53
Q

at what CD4 count are AIDs pts more susceptible to CMV, what is the most common finding associated with it

A

CD4 less than 100

RETINITIS

54
Q

what happens to the cardiac output and venous return curves in chronic anemia

A

increases in cardiac output in effort to meet the metabolic demands of the tissues (CO urge slope and max value increase)
somewhat increase in venous return due to decreased blood viscosity (VR slope and y-int increase)

both x intercepts stay the same
looks the same as if you were to DECREASE TPR (EXERCISE, AV SHUNT)

55
Q

what happens to the cardiac output and venous return curves in anaphylaxis

A

widespread venous and arteriolar dilation along with increased capillary permeability and third-spacing of glides
serious DROP in VENOUS RETURN (down and leftward shift)
cardiac contractility also increases as the body attempts to maintain blood pressure (slope and max value increase, x-int stays same)

56
Q

what is the largest branch of the brachial plexus and where does it get its roots

A

RADIAL NERVE
C5-T1

innervates EXTENSOR MUSCLES of upper limb BELOW SHOULDER
sensory to skin of POSTERIOR ARM, FOREARM, and DORAL LATERAL HAND

57
Q

MIDSHAFT HUMERUS break or penetrating stop wound will fuck up what nerve, what you gna see

A

RADIAL NERVE (courses through radial glove on the humerus)

can also get fucked up during superficial course within AXILLA

58
Q

patients with proximal radial neuropathy (like mid shaft humerus or axilla) typically have what

A

weakness during wrist and finger extension (wrist drop) and variable sensory loss of the posterior arm and forearm

59
Q

weakness on thumb OPPOSITION, what nerve is fucked up

A

MEDIAN nerve

60
Q

damage liming FINGER ABDUCTION and THUMB ADDUCTION, whats fucked up

A

ULNAR nerve

61
Q

what is rasburicase, what is it used for

A

recombinant version of URATE OXIDASE (enzyme in many mammals but not humans)

catalyzes conversion of URIC ACID to ALLANTOIN (5-10 times more soluble)

degrades uric acid formation doesn’t stop its formation

use it in tumor lysis syndrome or any state of hyperuricemia

62
Q

what is seen in tumor lysis syndrome

A 
potassium release (fatal ARRYTHMIAS)
phosphorous release
nucleic acids (uric acid- gout or stones)
63
Q

how does MESNA work

A

supplies THIOL group that inactivates the toxic metabolite ACROLEIN (of cyclophosphamide or ifosfamide)

prevents hemorrhagic cystitis

64
Q

what are phosphate binders (sevelamer) used for

A

manage hyperphosphatemia in patients with chronic kidney disease

65
Q

potassium exchange resins (sodium polystyrene sulfonate) do what

A

help excrete potassium form the body (through stools) by exchanging it with sodium

66
Q

what provides blood to the INFERIOR (DIAPHRAGMATIC) surface of the heart (in most individuals)

inferior surface is both left (2/3s) and right (1/3) ventricles

A

most peeps are RIGHT DOMINANT heart so the POSTERIOR DESCENDING ARTERY (PDA) comes off the RIGHT CORONARY ARTERY

PAD runs down the posterior interventircular groove and supplies the POSTERIOR 1/3 go of the IV SEPTUM and most of INFERIOR WALL of the LEFT VENTRICLE

67
Q

what does the LAD supply

A

anterior 2/3 of IV septum (septal branches)
anterior wall of left ventricle (diagonal branches)
part of he anterior papillary muscle

68
Q

what does the left circumflex supply

A

lateral and posterior superior walls of the left ventricle via obtuse marginal branches

69
Q

what is the right marginal branch of the right coronary artery

A

supples wall of the right ventricle and may provide collateral circulation in pts with LAD occlusion

70
Q

what is dobutamine

A

beta-adrenergic agonist (B1 over B2)
POSITIVE INOTROPIC EFFECT- ↑ contractility leading to ↑ CO and ↓ LV filling pressures
weakly POSITIVE CHRONOTROPIC EFFECT- ↑ HR (↑ O2 CONSUMPTION, ↓ diastolic filling time)
VASODILATION

used in refractory heart failure associated with severe LV systolic dysfunction and cariogenic shock

71
Q

why do infections with Neisseria gonorrhoeae not appear to to provide lasting protective immunity to re-infection

A

ability of many gonococcal surface antigens to undergo high frequency of ANTIGENIC VARIATION

IgA and IgG antibodies formed are either highly strain specific or poorly active

72
Q

HbS and HbC are caused by what kind of mutations

A

MISSENCE mutation- single base substation results in a codon that codes for diff amino acid
glutamate to valine and lysine (respectively)- causes a decrease in negative charge on the Hb molecule

73
Q

HbH (alpha thalassemia with beta tetramers) is caused by what kind of mutation

A

FRAMESHIFT
deletion or insertion of base paris that are NOT multiple of 3 alters the reading frame of the code reusing in nonfunctional proteins

duschene muscular dystrophy is also frameshift (or deletions)

74
Q

compare HbS, HbC, and HbA speed on electrophoresis

A

HbA is fastest, then HbS, then HbC is slowest

75
Q

what does hypocapneia do the the brain blood flow

A

cerebral vasoCONSTRICTION

↓ cerebral blood flow

76
Q

what are the signs of TCA overdose and what is used to treat it

A

mental status change (drowsiness, delirium, coma)
seizures, resp ↓
sinus tachycardia, hypotension
prolonged PR/QRS/QT intervals
DRY MOUTH, BLURRED VISION, DILATED PUPILS
URINARY RETENSION, FLUSHING, HYPERTHERMIA

SODIUM BICARBONATE corrects the cardiac abnormalities b/c TCAs block CARDIAC FAST SODIUM CHANNELS

77
Q

if you are shown gel electrophoresis of DNA SIZE with bp given and they are different by say 28 and it asks what is responsible for the condition (mutations wise), what is it

A

FRAMESHIFT b/c the difference is not by a multiple of 3

nonsense mutation would not alter the size of the mRNA it owed only alter the size of the protein

78
Q

what drug can be used (and enzyme inhibited) to prevent recurrent adenomas in someone with large adenomatous polyps with severe dysplasia in the sigmoid colon

A

celecoxib blocking CYCLOOXYRGENASE-2

this stops the hyper proliferative epithelium phase of the ADENOMA-CARCINOMA sequence (APC → methylation abnormalities, COX-2 over expression → KRAS, DCC, p53 activation → further accumulation of genetic abnormalities)

uWorld Flashies (62 decks)

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