UWORLD_1 Flashcards

1
Q

what is acute respiratory distress syndrome?

A

development of hypoxemia and bilateral pulmonary infiltrates in the absence of heart failure

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2
Q

what is diabetic nephropathy characterized by on histology?

A

mesangial expansion, glomerular basement membrane thickening, glomerular sclerosis

Kimmelstein-Wilson nodules

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3
Q

what is the bone tumor most often associated with Paget’s disease of the bone?

A

osteosarcoma

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4
Q

What is globus sensation?

A

sensation of foreign body or tightness in the throat

worse when swallowing saliva, better when swallowing food or liquids

functional – no anatomical abnormality

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5
Q

what is the translocation in APL? What is seen on blood smear?

A

t(15;17) involving retinoic acid receptor on 17 and the PML gene on 15

auer rods

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6
Q

What is the translocation in burkitt?

A

t(8;14)

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7
Q

what is the translocation in CML?

A

t(9;22)

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8
Q

What is the translocation in ALL?

A

t(12;21)

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9
Q

what is the translocation in follicular lymphoma?

A

t(14;18)

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10
Q

what cytokine is exclusively produced by antigen stimulated T lymphocytes? What is its function?

A

IL-2

stimulate the growth and proliferation of T cells, B cells, NK cells, and macrophages

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11
Q

what is characterized by firm, flesh colored papules on the skin and mucus membranes, that may be umbilicated?

A

molluscum contagiosum

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12
Q

what changes in ions occurs with increased flow rate in the pancreas?

A

as flow rate increases, more bicarb is excreted and less chloride is excreted

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13
Q

acute intermittent porphyria is caused by a defect in what enzyme? what will build up?

A

porphobilinogen deaminase, resulting in a buildup of PBG and ALA

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14
Q

what is porphyria cutanea carda caused by, and what is the main manifestation?

A

defect in uroporphyrinogen decarboxylase

cutaneous photosensitivity

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15
Q

when a genetic mutation is identified in the children but not the parents, what should be considered?

A

germline mosaicism

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16
Q

in posterior and anterior knee displacements, what structure is at high risk for injury?

A

popliteal artery

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17
Q

what is the time period for acute stress disorder?

A

> 3 days, <1 month

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18
Q

how do you calculate relative risk?

A

the risk of developing a disease in patients with exposure divided by the risk in unexposed patients

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19
Q

what effect does ADA deficiency have on the immune system?

A

adenosine and deoxyadenosine builds up in lymphoid cells, impairing the production and function of B and T cells

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20
Q

what will be the Na and K levels in a pt in diabetic ketoacidosis?

A

hyperkalemia, hyponatremia

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21
Q

what is a chiari malformation?

A

downward displacement of elongated cerebellar tonsils through the foramen magnum

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22
Q

what are gene mutations associated with pheochromocytosis?

A

VHL
NF1
RET

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23
Q

interstitial pneumonitis can be caused by what drug?

A

amiodarone

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24
Q

the vast majority of cancers in the head and neck are what kind of cancers

A

squamous

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25
Q

a difference in phenotype among pts who carry the same genetic mutation is called what?

A

variable expressivity

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26
Q

what are the changes in cardiac function after administration of nitrates?

A

increased heart rate (reflex tachy) and decreased EDV

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27
Q

what is pseudohypoparathyroidism? what are the findings?

A

end organ resistance to parathyroid hormone

hypocalcemia and hyperphosphatemia despite elevated PTH levels

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28
Q

what is allelic heterogeneity?

A

when different mutations at the same genetic locus cause similar phenotypes

29
Q

what is genetic heterogeneity?

A

mutations of different genes cause the same phenotype

30
Q

what is phenotypic heterogeneity?

A

mutations in the same gene cause markedly different phenotypes

31
Q

what is leukotriene D4 synthesized by, and what does it mediate?

A

mast cells and eosinophils

bronchial constriction, increased bronchial secretions

32
Q

what are common manifestations of hereditary hemochromatosis?

A
liver disease with hepatomegaly
diabetes mellitus secondary to beta cell destruction
arthropathy
pituitary hormone deficiencies
cardiomyopathy
bronze skin
33
Q

Achondroplasia mutation and presentation

A

GOF in FGFR1 gene

frontal bossing
proximal limb shortening
midface hypoplasia

34
Q

what is the pathogenesis of Bruton agammaglobinemia?

A

defect in BTK (bruton tyrosine kinase) that is necessary for B cells to leave the bone marrow. without it, you won’t have any B cells (CD19+ in the blood)

35
Q

proteins destined for the rough ER have what?

A

N-terminal peptide sequences that code for a target sequence which signal recognition particles (SRPs) recognize and facilitate targeting to the ER

36
Q

branched chain alpha-ketoacid dehydrogenase is deficient in what disease, and what cofactor is necessary for its function?

A

maple syrup urine disease

thiamine (B1)

37
Q

what maintains the high local concentration of testosterone necessary for spermatogenesis, and what secretes it?

A

androgen binding protein (ABP) secreted by sertoli cells

38
Q

what receptor does glucagon act through?

A

Gs

39
Q

the round ligament of the uterus is the vestige of what?

A

the gubernaculum

40
Q

what are the blood gas findings in a significant PE?

A

hyperventilation that leads to hypocapnia and respiratory alkalosis, but it can’t compensate for the hypoxemia

41
Q

what is the first step in the pathogenesis of idiopathic pulmonary arterial hypertension?

A

pulmonary endothelial dysfunction

42
Q

what are the findings in primary carnitine deficiency?

A

muscle weakness
cardiomyopathy
elevated muscle triglycerides
hypoketotic hypoglycemia

43
Q

What is the cause of MCAD?

A

most common defect in beta oxidation: acyl-CoA dehydrogenase deficiency

44
Q

What are the findings in MCAD?

A

hypoketotic hypoglycemia

45
Q

how do apoptotic cells create proteins necessary for apoptosis?

A

eIF, necessary for the initiation of translation is degraded, so proteins necessary for apoptosis are translated using using an alternative method: internal ribosome entry

46
Q

the most frequently involved part of the GI tract in Crohns is what?

A

terminal ileum

47
Q

what luminal agent would be useful in the setting of hepatic encephalopathy

A

lactulose – acidifies the Gi tract

48
Q

what is the defect in osteomalacia?

A

decreased mineralization of osteoid

49
Q

What muscles does the recurrent laryngeal innervate?

A

all intrinsic muscles of the learynx that are responsible for sound, except for the cricothyroid

(posterior and lateral cricoarytenoids, oblique and transverce arytenoids, thyroarytenoid)

50
Q

DNA viruses replicate where?

A

in the nucleus (except for poxvirus)

51
Q

RNA viruses replicate where?

A

in the cytoplasm (except for orthomyxo and retroviruses)

52
Q

atrial septal defect is associated with what auscultatory finding?

A

wide and fixed S2

53
Q

what is brocas aphasia characterized by?

A

nonfluent aphasia characterized by agrammatism, intact comprehension, poor repitition

54
Q

what are the important unmyelinated fibers (group C fibers)?

A

sensory (afferent): heat, slow pain, olfaction

efferent: fibers that originate from postganglionic autonomic neurons

55
Q

hyperphagia, small hands and feet, developmental delay, obesity, dysmorphic facies, and hypogonadism are indicative of what?

A

Prader-Willi syndrome

56
Q

epilepsy/seizures, ataxic gait/tremors, inappropriate smiling/laughter, intellectual disabilities are indicative of what?

A

Angelman syndrome

57
Q

celiac disease is associated with what derm findings?

A

dermatitis herpetiformis

58
Q

what are the clinical features of PCOS?

A

androgen excess
ovarian dysfunction
insulin resistance
obesity

59
Q

what is cellular differentiation determined by?

A

the transcription factor milieu inside the cell

60
Q

atrophic glossitis —

A

iron deficient anemia due to chronic blood loss

61
Q

acanthosis nigricans is most commonyl associated with conditions such as insulin resistance and obesity. What other, more serious diseases can it indicate?

A

malignancy within the GI tract or lungs

62
Q

what is the pathogenesis of DiGeorge?

A

22q11.2 deletion resulting in failed formation of third and fourth pharyngeal pouches

63
Q

absence of what is diagnostic for hyper IgM syndrome?

A

absence of CD40 ligand

64
Q

methylation of CpG repeats has what effect?

A

silencing of the gene

65
Q

what are the anti-TNF agents?

A

Etanercept and infliximab

66
Q

what are the causes of high anion gap metabolic acidosis?

A

MUDPILES

methanol
uremia
diabetic ketoacidosis
propylene glycol/paraldehyde
isoniazide/iron
lactic acidosis
ethylene glycol
salicylates
67
Q

maxillary sinuses drain where?

A

middle nasal meatus

68
Q

what do the right supraclavicular nodes drain?

A

mediastinum, lungs, esophagus

69
Q

what do the left supraclavicular nodes drain?

A

thorax, abdomen via thoracic duct