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Board questions > Uworld 5 > Flashcards

Uworld 5 Flashcards

1
Q

infertility in men due to absent vas deferens - dx?

A

CF

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2
Q

Structures derived from neural crest cells

A
  • Schwann cells
  • odontoblasts
  • melanocytes
  • enterochromaffin cells
  • spinal membranes
  • adrenal medulla/ganglia
  • laryngeal cartilage
  • tracheal cartilage
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3
Q

What will you see in the lung shortly after an MI?

A

acute pulmonary edema - transudate from elevated hydrostatic pressure in the pulmonary venous system leads to engorged alveolar capillaries with transudation of fluid into the alveoli

appearing as acellular pink material on histology

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4
Q

What is similar to G6PD deficiency and how do they fit together?

A

Glutathione reductase deficiency has a similar clinical consequence as its absence results in an inability to utilize NADPH to reduce glutathione

both result in bite cells

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5
Q

fever, delirium, mucosal and axillary dryness, cutaneous flushing, nonreactive mydriasis, and urinary retention, tachycardia and decreased bowel sounds

OD??

A

anticholinergic toxicity (TCAs like amyltriptyline)

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6
Q

Why would women present later than men with hemochromatosis?

A

physiologic iron loss through menstruation and pregnancy slows the progression of hemochromatosis in women

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7
Q

What is the major amino acid responsible for transferring nitrogen to the liver for disposal?

A

alanine

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8
Q

what kind of study begins with selecting individuals who have the outcome (‘cases’) and individuals who do not have the outcome (‘controls’) and then retrospectively comparing their history of exposure to risk factors

A

case-control study

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9
Q

heavy smoker, high fever, diarrhea, headache and confusion;

lab shows hyponatremia

productive cough

etiology?

A

legionella pneumophila

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10
Q

what produces beta-hCG? When is it detectable in serum and urine?

A

synctiotrophoblast after implantation

serum - 8 days s/p fertilization

urine -14 days

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11
Q

lipoprotein lipase deficiency causes what syndrome?

How do these patients present?

A

Familial chylomicronemia syndrome

presents in childhood with marked hypertriglyceridemia, recurrent acute pancreatitis, lipemia retinalis (milk-appearing retinal vasculature), and eruptive xanthomas (small yellowish papules surrounded by erythema found mainly on extensor surfaces

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12
Q

Most often, Down syndrome cases arises due to nondisjunction during…

How can I tell this on and RFLP?

A

maternal meiosis I

The child has 2 bands from mom and 1 band from dad (inheriting both homologous chromosomes)

if it was during meiosis 2, it would be one band from each parent, with one of the bands being thicker (inheriting sister chromatids)

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13
Q

What creates defense from Candida locally and systemically?

A

Local defense is performed by T cells while systemic infection defense is performed by neutrophils

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14
Q

Penicillins and cephalosporins function by…

A

irreversibly binding to penicillin-binding proteins such as transpeptidases

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15
Q

Where is elastase found?

A

neutral protease contained in macrophage lysosomes and in azurophilic (primary) granules of neutrophils

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16
Q

What are my proteases and anti-proteases that balance them?

A
  • Proteases
    • elastase
    • Cathepsin G
    • Matrix Metallo-proteinases
  • Antiproteinases
    • Alpha-1 antitrypsin
    • alpha-2 macroglobulin
    • TIMPs
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17
Q

impaired beta-oxidation is most often caused a deficiency in…

A

medium chain acyl-CoA dehydrogenase deficiency

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18
Q

On release from the SR, calcium binds to… on the thin filaments. This induces a conformation change in the … causing it to displace… and expose the myosin binding sites on the actin filaments

A

troponin C

troponin complex

tropomyosin

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19
Q

What does PAS stain end up highlighting?

A

polysaccharides of fungal cell wall, mucosubstances secreted by epithelia, and basement membrane

evaluating tissue for Whipple disease

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20
Q

Peroxidase staining can be used to differentiate subtypes of…

while horseradish peroxidase is useful in…

A

acute leukemia

immunoblotting (eg, Western blot)

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21
Q

calcium appears as a dark purple deposit on…

A

H&E stain

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22
Q

What stains can be used to identify neutral lipids?

A

Nile red or Sudan black (with the latter being useful for frozen sections)

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23
Q

Staining with alkaline phosphatase is an enzyme marker of osteoblasts and can be useful in identifying…

A

bone tumors

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24
Q

persistent pattern of social detachment, preference for solitary activities and limited emotional expressivity when interacting with others

A

schizoid personality disorder

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25
Q

protein kinase involved in activation of signaling pathways for melanocyte proliferation?

what mutation of this is seen in melanoma?

A

BRAF

BRAF V600E in 40-60% of pts

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26
Q

MOA of sulfonylureas

A

inhibit the ATP-sensitive K+ channel on beta cell membrane, inducing depolarization and L type calcium channel opening

the increased Ca2+ influx stimulates beta cell insulin release independent of blood glucose concentrations

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27
Q

Hallmarks of this diagnosis are microangiopathic hemolytic anemia (MAHA) (nonimmune hemolytic anemia with schistocytes) and thrombocytopenia without any other obvious cause

A

thrombotic thrombocytopenic purpura

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28
Q

What is tx for TTP?

A

plasma exchange

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29
Q

What should be checked before rx’ing someone dapsone?

A

G6PD levels because this drug causes oxidative stress

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30
Q

observational study analyzing population-level data to evaluate the association between a potential exposure and a given outcome

A

ecological study

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31
Q

What is the MC and most severe of the galactosemic disorders?

A

classic galactosemia

AR, leading to complete enzymatic absence of galactose-1-phosphate uridyl transferase

newborns present within days of birth with jaundice, vomiting, and hepatomegaly

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32
Q

What is Rett syndrome?

A

X linked dominant, affecting females (affected males die in utero) that presents in early childhood with progressive neurodegeneration and stereotypical hand movements

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33
Q

What is Leber hereditary optic neuropathy inheritance pattern?

A

mitochondrial inheritance

progressive bilateral optic neuropathy leading to blindness

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34
Q

What do lab studies show in an infant with SCID?

A

low or absent CD3+ T cells and hypogammaglobulinemia

thymic hypoplasia or aplasia often common

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35
Q

severe bacterial and viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis

A

SCID

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36
Q

complete or partial deficiency of the enzyme methylmalonyl-CoA mutase

A

autosomal recessive orgnaic acidemia

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37
Q

methylmalonic acidemia presentation and labs?

dx confirmed with…

A

complete deficiency of methylmalonyl-CoA mutase classically presents with lethargy, vomiting, and tachypnea in a newborn

labs show hyperammonemia, ketotic hypoglycemia, and metabolic acidosis

confirm with elevated urine methylmalonic acid and propionic acid

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38
Q

How does SCD present in kids?

what does the sickling cause?

A

dactylitis (painful swelling of hands and feet)

sickling episodes result in hemolysis, which leads to increased indirect bilirubin and lactate dehydrogenase and decreased levels of haptoglobin

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39
Q

calcium efflux from cardiac cells prior to relaxation is primarily mediated by…

A

Na/Ca exchange pump and SR Ca-ATPase pump

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40
Q

Dermatomyositis may occur alone or as a pareneoplastic syndrome of underlying malignancy, MC due to

A

adenocarcinom (eg ovary, lung, pancreas)

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41
Q

hereditary PAH is most often due to an inactivating mutation in….

Pts with this mutation have a predisposition for…

A

BMPR2, transmitted in an autosomal dominant manner with variable penetrance

dysfunctional endothelial and smooth muscle cell proliferation

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42
Q

After IV lorazepam is given for status epilepticus, what is the next drug given and MOA?

A

phenytoin IV

long acting anticonvulsant that is administered concurrently to prevent the recurrence of seizure activity, regardless of pt response to lorazepam

inhibit neuronal high-frequency firing in the cortex by reducing the ability of sodium channels to recover from inactivation

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43
Q

In CKD, what part of vit D synthesis is impaired?

what else is failing and what does this cause?

A

25-hydroxyvitamin D to 1,25-hydroxyvitamin D

also have failure of glomerular and tubular function, resulting in phosphate retention and hypocalcemia

compensatory rise in PTH, presenting with weakness, muscle and joint pain, and defective bone mineralization, and increased fx risk

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44
Q

what do you use in tx resistent schizophrenia?

A

clozapine

affinity for multiple dopamine and serotonin receptors

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45
Q

Children with watery diarrhea should be rehydrated with what?

A

hypotonic, equimolar concentrations of sodium and glucose to help prevent dehydration and electrolyte abnormalities

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46
Q

sirolimus MOA

A

binds to immunophilin FK-506 binding protein (FKBP) in the cytoplasm, forming a complex that binds and inhibits mTOR

inhibition of mTOR signaling blocks IL-2 signal transduction and prevents cell cycle progression and lymphocyte proliferation

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47
Q

Bortezomib MOA

A

binds and inhibits 26S proteasome

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

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48
Q

arrangement in which a payor pays a fixed, predetermined fee to cover all the medical services required by a patient is termed

A

capitation

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49
Q

what type of plans require patients to have a PCP and obtain referrals for specialty consultations?

A

point-of-service

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50
Q

Prolactin is manufactured due to stimulation by… while it is inhibited by…

A

thyrotropin-releasing hormone

inhibited by progesterone

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51
Q

The conjoint tendon is made of what muscles?

A

common tendon of transversus abdominis and internal oblique muscles; forms part of posterior wall of inguinal canal

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52
Q

superficial and deep inguinal rings are physiologic openings in the

A

external abdominal oblique aponeurosis and the transversalis fascia respectively

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53
Q

tx and MOA for Hep C

A

direct acting antivirals - ledipasvir and sofosbuvir

target specific HCV enzymes (eg, protease, NS5A, RNA polymerase), which inhibits viral replication and assembly

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54
Q

What oncogenic mutation is MC a/w glioblastoma?

A

overexpression of epidermal growth factor receptor (EGFR) on the surface of neoplastic cells

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55
Q

What do interferons do?

A

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

works only in presence of double stranded RNA, which forms in infected cells as a result of viral replication

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56
Q

Most pts with polycythemia vera have what mutation?

A

V617F mutation involving JAK2 gene

renders hematopoietic cells more sensitive to growth factors like EPO and TPO

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57
Q

schistocytes on peripheral blood smear indicate what?

How would this affect coagulation studies?

A

microangiopathic hemolytic anemia (eg, HUS, TTP, DIC, or mechanical damage)

coagulation studies are normal in HUS, TTP but abnormal in DIC

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58
Q

The posteromedial papillary muscle is supplied soley by what artery?

A

posterior descending artery

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59
Q

What is the primary virulence factor of S. pneumoniae?

A

polysaccharide capsule that inhibits opsonization and phagocytosis; the polysaccharide capsule of the most virulent strains is targeted by the pneumococcal vaccine, which confers immunity against those subtypes

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60
Q

What are the most coming findings from compression due to transtentorial/uncal herniation?

A
  1. ipsilateral oculomotor nerve
    • fixed and dilated pupil on side of compression, then ptosis and down and out eye
  2. ipsilateral posterior cerebral artery
    • CL homonymous hemianopsia with macular sparing
  3. CL cerebral peduncle against tentorium
    • damage to CL corticospinal tract - ipsilateral hemiparesis
  4. brainstem hemorrhage (ie Duret hemorrhages)
    • in pons and midbrain d/t rupture of basilar artery
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61
Q

significant panlobular lymphocytic inflammation, which may ‘bridge’ into adjacent hepatic lobules due to collapse of the reticulin framework; spotty areas of hepatocyte injury and ballooning degeneration are also seen in this disease

A

acute viral hepatitis

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62
Q

damaged cytokeratin filaments within hepatocytes; appear as highly eosinophilic inclusions on microscopy

A

mallory bodies a/w alcoholism

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63
Q

Ageusia often occurs with what as a common complication of TBIs

how does this happen?

A

anosmia

acceleration-deceleration forces during head trauma can lead to avulsion of the olfactory nerve rootlets as they traverse the cribiform plate

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64
Q

What kind of immune cascade is responsible for manifestations of toxic shock syndrome?

A
  • superantigens interact with MHC on antigen presenting cells and the variable region of the T lymphocyte receptor
  • cause nonspecific, widespread activation of T cells
  • release of IL-2 from T cells and IL-1 and TNF from macrophages
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65
Q

What part of the duodenum courses horizontally across the abdominal aorta and IVC at the level of the third lumbar vertebra?

what lies anterior?

A

third part of duodenum

superior mesenteric vessels lie anterior

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66
Q

What is the only part of the duodenum that is not retroperiotneal?

A

first part of the duodenum

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67
Q

Where does the fourth part of the duodenum course?

A

superiorly and to the left of L2 and L3 vertebrae and becomes the jejunum past the ligament of Treitz

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68
Q

physicians or therapist’s conscious or unconscious reaction toward a pt that is based on past personal relationships; provider towards pt

A

countertransference

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69
Q

redirection of a pt’s emotions from a signifivant person in the past to that pt’s current physician or therapits; pt’s reaction to provider

A

transference

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70
Q

how can you distinguish secretory diarrhea from inflammatory diarrhea and osmotic diarrhea?

A
  • inflammatory will have blood or pus
  • osmotic diarrhea will improve with diet modification
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71
Q

watery diarrhea, hypokalemia, and achlorydria (WDHA) syndrome (pancreatic cholera) is due to…

A

excessive secretion of VIP

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72
Q

What drugs will increase the prothrombin and activated partial thromboplastin times but do not affect the thrombin time?

A

Direct Factor Xa inhibitors (apixaban, rivaroxaban)

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73
Q

What drugs are considered direct thrombin inhibitors?

A

argatroban

bivalirudin

dabigatran

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74
Q

MOA of tamoxifen and raloxifene

A

SERMs - interact with the estrogen receptor and have either agonists or antagonist activity depending on the tissue;

in breast tissue, tamoxifen has an anti-estrogenic effect (tx ER+ BRCA)

in endometrial tissue, tamoxifen has a stimulatory effect and can lead to development of endometrial hyperplasia and endometrial cancer

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75
Q

rows of RBCs stacked on each other like coins is called what?

why does this happen?

A

rouleaux formation

due to elevated levels of circulating proteins which disrupts the repulsive electrostatic charge on the RBC surface and causes stacked aggregation

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76
Q

In what disease states might you see rouleaux formation?

A

can be in inflammatory conditions that increase acute phase reactants (fibrinogen), but classically linked to lymphoproliferative/plasma cell disorders like multiple myeloma and Waldenstrom macroglobulinemia which generate high levels of monoclonal paraprotein (immunoglobulins)

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77
Q

Polyarteritis nodosa commonly affects what organs while it avoids this…

A

commonly affects kidneys, heart, liver, and GI

avoids lungs/pulmonary arteries and rarely involves bronchial arteries

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78
Q

What will you see on biopsy of Giant Cell Arteritis/Temporal Arteritis?

A

scattered, focal granulomatous inflammation centered on the media with intimal thickening, elastic lamina fragmentation, and giant cell formation

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79
Q

medial band-like calcifications are characteristic of what disease?

How does this present on XR?

How does it present clinically?

A

Monckeberg’s medial calcific sclerosis

pipestem calcifications on XR

usually not clinically significant

80
Q

shrunken and basophilic with loss of the nucleolus describes

A

pyknotic nucleus

81
Q

what are red neurons?

A

basophilic Nissl bodies disappear of the pyknotic nucleus, resulting in cytoplasm that stains deeply eosinophilic

82
Q

When is bleeding time prolonged?

A

is a test of platelet function and is prolonged by qualitative and quantitative platelet defects

83
Q

What is the MC heritable bleeding disorder?

What tests will be abnormal?

A

von Willebrand Disease (vWD)

prolonged PTT and bleeding time - produced by both endothelial cells and megakaryocytes and functions as a carrier protein for Factor VIII and as a mediator of platelet adhesion to endothelium

84
Q

What is a transglutaminase that cross-links fibrin polymers, thereby stabilizing clots?

What happens if there is a deficiency in this?

A

Factor XIII

spontaneous or excessive bleeding, but would not cause prolonged bleeding time, PT or PTT

85
Q

How does mesothelia appear histologically?

A

cuboidal or flattened cells (epithelium-like) or spindle cells (stromal like);

immunohistochemistry- nearly all cases stain positive for cytokeratins and many will also stain for calretinin

EM shows polygonal tumor cells with numerous long, slender microvilli and abundant tonofilaments

86
Q

What arteries lead to the retinal artery?

A

ICA to ophthalmic artery to retinal artery

87
Q

What are niacin dependent enzymes in the TCA cycle?

A
  • Pyruvate dehydrogenase
  • isocitrate dehydrogenase
  • alpha-ketoglutarate dehydrogenase complex
  • malate dehydrogenase
88
Q

Process of base excision repair

A
  • glycosylase
    • recognize abnl base then cleave altered DNA base leaving AP site
  • endonuclease
    • cleaves 5’ end of AP site
  • lyase (or phosphodiesterase)
    • completes extraction of AP site from DNA molecule by removing rest of sugar-phosphate group
  • DNA polymerase
    • fills gap with correct sugar-phosphate base
  • ligase
    • seals the nick
89
Q

What is Reverse T3?

A

inactive form of thyroid hormone generated almost entirely from the peripheral conversion of T4

90
Q

What would giving exogenous T3 do to someone that is already hypothyroid?

A

rapidly suppress TSH

decrease T4 secretion from thyroid

rT3 decreases bc of less T4

91
Q

LAD type 1 results from the absence of …

this leads to…

A

CD18

leads to the inability to synthesize the beta-2 integrins Mac-1 and LFA-1, affecting tight adhesion, crawling, and transmigration

92
Q

clinical manifestations of this disease include recurrent skin infections without pus formation, delayed detachment of the umbilical cord, and poor wound healing

A

LAD type 1

93
Q

PECAM-1 is a/w what process?

A

transmigration - neutrophils migrate out of vasculature by squeezing in between the cells via integrin attachments and adherence to PECAM-1

94
Q

What is the main cell in the creation of lung abscesses?

These cells, once activated, secrete what to create this?

A

neutrophils

release cytotoxic granules (lysosomes) containing myeloperoxidase and other digestive enzymes that destroy extracellular bacteria and recruit additional immune components to the area

can result in liquefying necrosis of lung tissue and (portentially) lung abscess

95
Q

What is the predominant component of eosinophilic granules and plays a crucial role in the elimination of parasites?

A

major basic protein

96
Q

whorled pattern of cellular growth that froms synctial nests, which may calcify and appear as round, eosinophilic laminar structures called psammoma bodies

A

meningioma

also papillary thyroid carcinoma, mesothelioma, papillary serous carcinoma of the ovary and endometrium

97
Q

benign tumors that involve the cerebellum in children and young adults; tumor cells typically have eosinophilic granular bodies and elongated hairlike processes (Rosenthal fibers) under light microscopy

A

pilocytic astrocytomas

98
Q

most often present as benign suprasellar tumors in children and appear as cords/nests of palisading squamous epithelium with internal areas of lamellar “wet” keratin under light microscopy

A

adamantinomatous craniopharyngiomas

99
Q

usually present as paraventricular tumors (eg floor of fourth ventricle) and have characteristic perivascular rosettes under light microscopy

A

ependymomas

100
Q

often located in the cerebral hemispheres and may cross the corpus callosum (butterfly glioma);

dx?

what is seen on light microscopy?

A

Glioblastoma

hypercellular areas of atypical astrocytes bordering regions of necrosis (pseudo-palisading)

101
Q

malignant cerebellar tumors that typically are in children and are characterized by small blue cells that may surround neuropil, forming Homer-Wright rosettes under microscopy

A

medulloblastomas

102
Q

typically involve white matter of cerebral hemispheres and tumor cells have a “fried egg” appearance (round nuclei surrounded by a halo of clear cytoplasm) under light microscopy

A

oligodendrogliomas

103
Q

on light microscopy, spindle cells with palisading nuclei arranged around Verocay bodies composed of eosinophilic cores (Antoni A pattern)

A

Schwannomas

104
Q

Most cases of Ewing Sarcoma involve translocations of

A

EWSR1 and FLI1

105
Q

How are excess vitamin D intake and sarcoidosis similar?

A
  • excess vit D intake
    • hypercalcemia causing mental status changes, muscle weakness, constipation, and polyuria/polydipsia
  • sarcoidosis
    • activated macrophages express 1-alpha-hydroxylase, leading to excess production of 1,25-dihydroxyvitamin D and hypercalcemia
106
Q

What are the markers seen on lymphoblasts in precursor B-ALL v T-ALL?

A

TdT+, CD10, CD19 => BALL

CD2, CD3, CD4, CD5, CD7, CD8, TdT, and CD1a

107
Q

meningococcal septicemia can cause bilateral hemorrhagic infarction of the adrenal glands leading to

A

Waterhouse-Friderichsen syndrome

108
Q

placenta that is morbidly adherent to myometrium; scar tissue from prior surgery can results in malformed or absent decidual layer between the placenta and myometrium allowing for direct myometrial attachment by the villous tissue and preventing normal placental separation after delivery

A

placenta accreta

109
Q

MCC of postpartum hemorrhage?

A

uterine atony

failure of uterus to contract adequately s/p delivery

responds to uterotonic agents

110
Q

in a suprapubic cystostomy, what fascia gets pierced?

A
  • aponeurosis of abdominal wall muscles
  • superficial fascia
  • transversalis fascia
  • extraperitoneal fat
111
Q

Pts with Sjogren syndrome have a higher rate of what?

A

thrush, dental caries, and other complications of odontogenic infections (eg osteomyelitis of the mandible) because of loss of protective factors in saliva

112
Q

positive glycerol lysis test: RBCs are lysed when incubated in hypotonic saline with glycerol

A

dx test for hereditary spherocytosis

demonstrate increased osmotic fragility due to decreased SA:V

113
Q

anemia, elevated lactate dehydrogenase, and indirect hyperbilirubinemia suggest…

A

hemolytic anemia

114
Q

What are complications of Hereditary spherocytosis?

A

pigmented gallstones and aplastic crises from parvovirus B19 infection

115
Q

Pts with Down Syndrome are at increased risk of developing what leukemias or lymphomas?

A

ALL and AML

116
Q

Pt gets stabbed above the clavicle and near the manubrium. What are you concerned for?

A

pneumothorax, tension pneumothorax, or hemothorax

lung apices and cervical pleura extend above the clavicle and first rib through the superior thoracic aperature and into the neck

117
Q

The ansa cervicalis arises from what nerve roots to innervate what muscles?

A

from C1, C2, and C3 to innervate the sternohyoid, sternothyroid, and omohyoid

118
Q

hematogenous osteomyelitis usually affects….

A

boys, developing on the metaphysis of long bones, as this region contains slow-flowing, sinusoidal vasculature that is conducive to microbial passage

119
Q

Where does Ewing Sarcoma usually arise?

A

diaphysis of long bones, esp the femur

120
Q

Where is the MC location for hematogenous osteomyelitis in adults?

A

vertebral body, also the location of Pott disease -TB

121
Q

What is special about the dual circulation of the lungs?

A

collateral circulation helps protect against lung infarction;

pulmonary arteries supply mostly deoxygenated blood to lungs for gas exchange while bronchial arteries supply nutrients, remove waste, and provide collateral blood flow

122
Q

histologic findings of patchy lymphoplasmacytic infiltrates, focal fibroblastic proliferation, areas of dense fibrosis, and honeycombing, and hyperplasia of type II pneumocytes are high suggestive of…

A

IPF - idiopathic pulmonary fibrosis

123
Q

What are tx options for IPF?

A
  • Pirfenidone
    • antifibrotic agent that inhibits TGF-beta
  • nintedanib
    • tyrosine kinase inhibitor that inhibits PDGF, FGF, and VEGF
124
Q

What are endothelin-1 inhibitors and what are they used for?

A
  • ambrisentan and bosentan
  • tx idiopathic pulmonary hypertension
125
Q

Pts with HLA-B*57:01 allele should not take this medication…

why?

A

abacavir

abacavir hypersensitivity reaction- occurs due to direct binding of drug to a segment of HLA molecule, which alters the presentation of self-peptides to the immune system and results in a delayed hypersensitivity reaction (type IV)

126
Q

anti-Ro/SSA and anti-La/SSB antibodies are found in pts with

A

Sjogrens syndrome

127
Q

Anti-DNA topoisomerase I (Scl 70) antibodies are highly specific for…

A

systemic sclerosis

128
Q

the 2 second gen anti-psych meds with highest risk for metabolic syndrome are

A

olanzapine and clozapine

129
Q

Dx of hemophilia A and B are made by

A

measuring plasma levels of factors VIII and IX, respectively

130
Q

If a pt has a hemophilia, what can be administered to make up for either deficiency?

A

Thrombin

131
Q

What does Protein C do?

A

physiologic anticoagulant that degrades Va and VIIIa

132
Q

Which strand requires the repetitive action of DNA primase and DNA ligase?

A

lagging strand synthesis

DNA replication occurs in 5’ to 3’ direction on both strands, leading strand is continuous and lagging strand is discontinuous, occurring in short stretches of RNA primer plus newly synthesized DNA segments

133
Q

What does metyrapone do/how does it work?

A

will cause a decrease in cortisol synthesis via inhibition of 11-beta-hydroxylase;

in pt with intact HT-pit-adrenal axis, this will cause a reactive increase in ACTH, 11-deoxycortisol and urinary 17-OH-corticosteroid levels

134
Q

type of optic neuropathy characterized by atrophy of the optic nerve head - dx?

why does this happen?

where does this come from?

A

glaucoma

due to increased production or decreased outflow of aqueous humor - increasing IOP

aqueous humor is produced by the epithelial cells of the ciliary body

135
Q

What will you see on funduscopic exam of gluacoma?

how is it treated?

A

increased cup to disc ratio due to loss of ganglion cell axons

timolol and other nonselective beta blockers work by diminishing the secretion of aqueous humor by the ciliary epithelium

acetazolamide (carbonic hydrase inhibitor) can do the same;

PGF2a (eg latanoprost, travoprost) and cholinomimetics (pilocarpine, carbachol) decrease IOP by increasing the outflow of aqueous humor

136
Q

What do reactive lymphocytes look like?

when are they present?

A

large, scalloped, and have abundant cytoplasm; contain cytotoxic granules composed of perforin and granzymes

they are activated, pathogen specific cytotoxic T cells and NK cells that form in response to certain intracellular infections, esp infectious mononucleosis

137
Q

elderly pt with any combination of hypercalcemia, normocytic anemia, bone pain, elevated gamma gap, or renal failure

A

multiple myeloma

138
Q

renal failure in multiple myeloma is commonly caused by… and presents with

A

light chain cast nephropathy

large, waxy, eosinophilic casts composed of Bence Jones proteins seen in the tubular lumen

139
Q

What happens when you perform a carotid sinus massage?

A
  • increased afferent firing from the carotid sinus
    • increase vagal parasympathetic tone
      • slows conduction through AV node
        • prolongs the AV node refractory period
          • terminates reentrant tachycardia
140
Q

liver appears black due to impaired excretion of epinephrine metabolites that are accumulating in lysosomes

dx?

why?

A

Dubin-Johnson syndrome

defective hepatic excretion of bilirubin glucuronides due to a mutation in the canalicular membrane transport protein

results in direct (conjugated) hyperbilirubinemia and episodes of jaundice

141
Q

How is arsenic poisonous?

A

binds to sulfhydryl groups, impairing cellular respiration via inhibition of pyruvate dehydrogenase and disruption of gluconeogenesis and glutathione metabolism

142
Q

garlic odor on breath after ingestion of insecticide

dx? tx?

A

arsenic poisoning

dimercaprol - increases urinary excretion of heavy metals by forming stable, nontoxic soluble chelates

143
Q

buspirone indication and MOA

A

Generalized anxiety disorder; non benzo anxiolytic use in tx of GAD with no risk of dependence

slow onset of action (almost 2 weeks), lacks muscle relaxant or anticonvulsant properties

partial agonist of 5-HT1A

144
Q

What test do you use to monitor warfarin therapy?

what about unfractionated heparin?

A

warfarin - Prothrombin time (PT)/INR

unfractioned heparin - activated Partial Thromboplastin (aPTT)

145
Q

INR is…

target value?

A

international normalized ratio

a ratio of pt’s PT to a control

target for AF is 2.0-3.0

146
Q

Why are pts with Crohn disease likely to get gallstones?

A

Crohn disease affects terminal ileum most often, the site of bile acid resorption

without bile acid resorption, it promotes cholesterol supersaturation of the bile, resulting in gallstone formation

147
Q

What abnormal bone pathology can be seen in CKD?

A

renal osteodystrophy from secondary hyperparathyroidism (caused by hyperphosphatemia and hypocalcemia)

high turnover osteodystrophy increases bone resorption more than formation, causing osteopenia and pathologic bone changes similar to those seen in primary hyperPTH; can also develop osteomalacia

148
Q

neonate with chorioretinitis, hydrocephalus, and a placenta infiltrated with intracellular crescent-shaped organisms likely has…

A

congenital toxoplasmosis

149
Q

If there is a pre-existing lung cavity in a pt and new onset hemoptysis, what is my concern?

A

aspergilloma - colonizing form of aspergillus, forming a fungus ball within a preexisting lung cavity

appears on CXR as radiopaque structure that shifts when pt change position

150
Q

In essential fructosuria/fructokinase deficiency, what enzyme takes over that role and what does it do?

A

hexokinase takes over the role of fructose metabolism, converting dietary fructose into fructose-6-phosphate to be used in glycolytic pathway or pentose phosphate pathway

151
Q

MCC of male hypogonadism?

what are features of this disease?

A

Klinefelter syndrome

  • progressive destruction and hyalinization of the seminiferous tubules cause the testes to be small and firm
  • serum inhibin levels are decreased as a result of the Sertoli cell damage
  • Leydig cells are usually dysfunctional as well, resulting in reduced testosterone levels
  • loss of FB inhibition results in elevated FSH and LH
  • high estrogen levels and gynecomastia due to increased aromatase activity
152
Q

hypokalemia in an otherwise healthy young adult with a normal BMI and preoccupation with body shape and weight

dx?

what is another common physical finding?

A

self-induced vomiting with bulimia nervosa

parotid gland enlargement, tachycardia, hypotension, dry skin, calluses or scarring on the dorsum of the R hand (Russell sign), and erosion of dental enamel

153
Q

What kind of drugs are likely to cause drug-induced lupus?

A

drugs metabolized by N-acetylation in the liver (procainamide, hydralazine, isoniazid)

genetically predisposed individuals who are slow acetylators are at greater risk

154
Q

renal arterioles showing medial hypertrophy and fibrointimal proliferation - what causes this?

A

hypertensive nephrosclerosis - complication of chronic HTN common in elderly

155
Q

Why is the Hep C virus genetically unstable?

A
  • lacks proofreading 3’ to 5’ exonuclease activity in its RNA polymerase
  • envelope glycoprotein sequences also contain a hypervariable region prone to frequent genetic mutation
156
Q

What should pts take if they are intolerant to aspirin?

What is the MOA of this drug?

A

clopidogrel

irreversibly blocks the P2Y(12) component of ADP receptors on the platelet surface and prevents platelet aggregation

157
Q

PDE inhibitor occasionally used in pts with symptomatic peripheral vascular disease (claudication)

A

Cilostazol

158
Q

eptifibatide MOA

A

platelet glycoprotein IIb/IIIa inhibitor that inhibits the final common pathway of platelet aggregation

for pts with ACS but not stable CHD

159
Q

MC type of groin hernias in both sexes?

how/why does it occur?

A

indirect inguinal hernia

usually congenital, d/t failure of the processus vaginalis to obliterate (in males) or of the deep inguinal ring to close (in females)

protrude through the internal inguinal ring, lateral to the inferior epigastric vessles, allowing them to follow the same path as the spermatic cord through the inguinal canal and into the scrotum

160
Q

what is diastasis rectus abdominis?

A

characterized by an abnormally large separation between the rectus abdominus muscles due to stretching and laxity of the linea alba

occurs in states with increased intraabdominal pressure (pregnancy or obesity) and characteristically presents with a bulge in the midline around the umbilicus

161
Q

Who do you normally see femoral hernias in?

A

occur mainly in older women due to laxity and widening of the femoral ring, which allows abdominal contents to protrude below the inguinal ligament into the femoral canal

162
Q

What is Bloom syndrome?

A
  • AR disorder caused by mutations in BLM gene
  • gene encodes DNA helicase
    • dysfunction results in chromosomal instability and breakage and manifests clinically with growth retardation, facial anomalies, photosensitive rash, and immunodeficiency
163
Q

Why do gamma chains of fetal hemoglobin not bind effectively to 2,3 BPG?

A

due to replacement of a histidine residue with serine

164
Q

In bladder outlet obstruction, what are the different components that comprise it and what drugs work on each component?

A
  • dynamic component
    • smooth muscle tone in bladder neck, prostate capsule, and prostatic urethra
    • alpha-adrenergic antagonists (terazosin, tamsulosin) work quickly to relax smooth muscle
  • fixed component
    • structural effects of enlarged prostate
    • 5-alpha reductase inhibitors (finasteride, dutasteride) over time reduce prostate volume (6-12 mo)
165
Q

Phenazopyridine indication

A

urinary analgesic to give symptomatic relief of dysuria in UTI

166
Q

antimuscarinic to tx overactive bladder symptoms

AE?

A

tolterodine

urine retention

167
Q

How does class switching to modify immunoglobulins work?

A

B cells modify production

occurs by splicing out DNA coding for different types of the heavy chain constant region until desired isotope is reached;

variable region, and therefore antigenic specificity of the antibody, stays the same

168
Q

How does class swithcing work in regard to T and B cell interaction?

A

activated CD4 T cell uses its CD40 ligand to bind CD40 on B cell surface

169
Q

excess thyroid hormone, whether due to endogenous hyperthyroidism or iatrogenic over-replacement with levothyroxine, causes

A

increased beta-adrenergic receptor expression;

hyperadrenergic state can lead to severe CV complications: HTN, tachycardia, increased myocyte automaticity, AFib, high output heart failure, worsening of angina pectoris

170
Q

serum calcium >13 mg/dL suggests…

why does this happen?

A

underlying malignancy

Humoral hypercalcemia of malignancy is MCC of hypercalcemia in pts with malignancy and is due to secretion of PTHrp by malignant cells

171
Q

Characteristics of PTHrp

A
  • closesly resembles PTH at the bioactive amino-terminal region
  • causes increased bone resorption
  • decreased renal excretion of calcium
  • increased renal excretion of phosphorus (leading to hypophosphatemia)
  • does not increase 1,25-dihydroxyvitamin D production
172
Q

What are clinical features, tx, and complications of cryptorchidism?

A
  • clinical features
    • empty scrotum/hemiscrotum
    • +/- mass in inguinal canal
  • treatment
    • orchiopexy before age 1 (sx placement of testes in scrotal sac)
  • complications
    • decreased fertility
    • testicular cancer
    • testicular torsion
173
Q

AE of tetracyclines when used in pregnant mom

A

tetracyclines localized in the enamel and dentin of developing teeth, causing enamel hypoplasia as well as yellow, gray, or brown staining of the deciduous teeth

if exposure is near term, permanent teeth can also be stained

174
Q

terbinafine and other allylamines MOA

A

inhibits synthesis of ergosterol by inhibiting enzyme squalene epoxidase

175
Q

MOA of caspofungin and echinocandin calls of antifungals

A

blocks synthesis of Beta (1,3)-D-glucan, a main component of Candida and Aspergillus cell walls

176
Q

MOA of Griseofulvin

A

binds to polymerized microtubules and disrupts the fungal mitotic spindle, thus preventing fungal cell mitosis

177
Q

what stores and releases pulomary surfactant into the fluid layer lining the inner surfaces of alveoli?

A

lamellar bodies of type II pneumocytes

178
Q

recurrent sinopulmonary infections and exocrine gland fibrotic atrophy in a young Caucasian are suggestive of

A

CF

179
Q

What may contribute to squamous metaplasia of the epithelial lining of pancreatic exocrine ducts?

What does the epithelium become?

A

Vitamin A deficiency

keratinized

180
Q

Where does ADH act in the kidney?

A

acts on the medullary segment of the collecting duct to increase urea and water absorption, allowing for maximally concentrated urine

181
Q

What does the mutated huntingtin gene do?

A

transcriptional repression - silencing

causes increased histone deacetylation, silencign the genes necessary for neuronal survival

182
Q

What do homeodomain/homeobox genes do?

A

critical for the sequential development of organs and tissues along the body axis during embryogenesis; mutations affecting these genes cause alterations in body structure, leading to congenital malformations or spontaneous abortions

183
Q

DNA damage by UV light

A

thymidine dimerization

184
Q

Rheumatoid factor is an antibody (typically IgM) specific for…

A

the Fc component of IgG

185
Q

antiphospholipid abs can be found in pts with…

What do these abs do?

A

SLE and antiphospholipid antibody syndrome

cause a hypercoaguable state with paraoxical PTT prolongation

186
Q

What does thyroid peroxidase do?

A

multifunctional enzyme that catalyzes the oxidation of iodide, the iodination of thyroglobulin, and the coupling reaction between 2 iodized tyrosine residues

187
Q

Gastric bypass surgery can cause small intestine bacterial overgrowth (SIBO) due to excessive bacterial proliferation in the blind-ended gastroduodenal segment. What can this do to vitamins and other gut substances?

A
  • result in deficiency of most vitamins
    • B12, A, D, and E
    • and iron
    • and zinc due to malabsorption
  • increased production of folic acid and vitamin K
188
Q

What is the major determinant of severity in Tetralogy of Fallot?

A

degree of RV outflow tract obstruction, major determinant of R to L intracardiac shunting and resulting cyanosis

degree of RVOT obstruction is dynamic and can increase suddenly, leading to profound cyanosis (tet spells)

(VSD is generally large, which allows for equal pressure in RV and LV)

189
Q

Most likely cause of fever and fatigue with new-onset cardiac murmur is…

What can be a complication of this?

A

infective endocarditis

diffuse, proliferative glomerulonephritis secondary to circulating immune complex deposition may complicate IE and can result in acute renal insufficiency

190
Q

Where do ovarian veins drain to?

Ovarian vein thrombosis is more often where?

A

L ovarian vein drains to L renal vein

R ovarian vein drains directly to IVC

more often R sided, but pulmonary emboli are uncommon and morbidity/mortality is low

191
Q

medication induced fat redistribution is called…

this is a common AE of…

A

lipoatrophy or lipodystrophy

highly-active antiretroviral therapy (HAART) and can be considered a product of 2 independent processes: wasting of fat from face and extremities and deposition of fat in the trunk and viscera

192
Q

subcutaneous lipoatrophy involving the face and extremities is a/w what drugs?

A

NRTIs (like stavudine and zidovudine) and protease inhibitors

193
Q

Marker of osteoblast activity

A

elevated AlkP, and N-terminal propeptide of type 1 procollagen (PINP)

PINP is released during post-translation cleavage of type 1 procolalgen before its assembly into mature type 1 collagen fibrils

194
Q

Irreversible ischemic injury to the brain tissue causes…

different from other organs that do..

A

tissue digestion by hydrolytic enzymes (liquefactive necrosis)

the infarcted CNS tissue is eventually replaced with a cystic astroglial scar

other organs with lethal ischemic injury result in coagulative necrosis

195
Q

Cachexia is driven by what pathways?

A

hypermetabolic state driven by elevated pro-inflammatory cytokines (TNFa and IL-6), which stimulate ubiquitin-proteasome pathway to degrade skeletal muscle proteins (eg actin and myosin)

196
Q

during fetal development, testes originate within the…. and establish their arterial supply from the…

thus lymph from the testes drains through lymph channels …

A

retroperitoneum

abdominal aorta

directly back to the para-aortic (retroperitoneal) lymph nodes

Board questions (24 decks)

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