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UWORLD STEP 1 > Missed Questions Retake > Flashcards

Missed Questions Retake Flashcards

1
Q

Adolescent with neuropathic pain (burning sensations) and hypohidrosis (decreased sweating) exacerbated by stress, exercise, and fatigue. Later he develops angiokeratomas (dark red, non-blanching macules and papules in clusters over the butt, groin, and umbilicus) and telangiectasias.

What is the diagnosis?

A

Fabry Disease

X-linked recessive

alpha-galactosidase A deficiency

Buildup of globotriaosylceramide

Leads to: cerebrovascular and cardiac issues, renal failure due to Gb3 buildup

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2
Q

How does sepsis cause ARDS?

A

As cytokines circulate in response to the infection, they activate the pulmonary epithelium and provoke an inflammatory response mediated by neutrophils. This leads to capillary damage and the leakage of protein and fluid into the alveolar space.

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3
Q

Newborn girl with normal internal genitalia but ambiguous or male-type external genitalia (clitoromegaly). Baby caused mother to be virilized (hirsutism, deep voice). What is deficient in the baby?

A

Aromatase Deficiency

AR

High androgen and low estrogen in a female fetus.

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4
Q

What enzyme functions exclusively in the nucleolus?

A

RNA Polymerase 1

Transcribes 45S pre-rRNA into a template that is processed into mature 18S, 5.8S, and 28S rRNAs.

FORMATION OF RIBOSOMES

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5
Q

Functions of IL-2

A
  1. Proliferation and differentiation of Helper T cells
  2. Monocyte activation
  3. NK Cell activation
  4. Growth of T cells and INF gamma secretion
  5. Stimulation of division of B cells

*Anti-cancer effect on metastatic melanoma and renal cell carcinoma*

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6
Q

First line treatment for Narcolepsy (daytime) for stimulation

A

Modafinil

Non-amphetamine stimulant

Well-tolerated

Rarely causes drug abuse

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7
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

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8
Q

Penicillins, cephalosporins, and vancomycin target what part of an organism?

A

Peptidoglycan cell wall

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9
Q

Most common pathogens causing nosocomial bloodstream infections

A

Coag neg staph

Staph aureus

Enterococci

Candida

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10
Q

An IL-1 or TNF-alpha inducible enzyme that is highly expressed by inflammatory cells and undetectable in surrounding normal tissue….

A

COX-2

Target it specifically with Celecoxib

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11
Q

An increased total RBC mass in the presence of an increased hematocrit level

A

Absolute Erythrocytosis

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12
Q

Increased hematocrit with normal RBC mass

A

Relative Polycythemia

Likely due to dehydration or excessive diuresis

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13
Q

Absolute polycythemia with decreased Erythropoietin levels

A

Primary erythrocytosis

Caused by a myeloproliferative disorder like PV

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14
Q

Absolute polycythemia with increased erythropoietin levels

A

Secondary erythrocytosis

Chronic hypoxia from high altitudes, smoking, COPD OR abnormal secretion by neoplastic or otherwise diseased tissues

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15
Q

Pt. with hemolytic anemia, hypercoagulability (hepatic vein thrombosis), pancytopenia

A

Paroxysmal nocturnal hemoglobinuria (PNH)

Absence of GPI anchor and CD55 and CD59 deficiency leads to complement-mediated hemolysis (more often at night due to lower blood pH)

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16
Q

What is the only prokaryotic polymerase with 5’-3’ exonuclease activity?

A

DNA Polymerase 1

Removes the RNA primer created by RNA primase and repairs damaged DNA sequences.

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17
Q

In a patient with acute mesenteric ischemia, what causes the resulting acid-base disorder?

A

Inadequate delivery of oxygen to intestinal tissues –> hypoxic conditions –> intracellular accumulation of NADH –> inhibition of pyruvate dehydrogenase –> pyruvate is converted to lactate –> lactic acidosis

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18
Q

This type of cell found on a pap smear… sign of what?

A

Koilocyte

HPV infection - double stranded, non-enveloped DNA virus with a predilection for squamous epithelium of skin/vagina/cervix

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19
Q

Leuprolide has what initial effect on hormones?

A

GnRH agonist that causes a transient increase in pituitary LH secretion, which leads to a rise in testosterone levels. If used continuously, it will suppress LH release and lead to a decrease in testosterone production.

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20
Q

Kyphoscoliosis

High arches (pes cavus)

Hypertrophic cardiomyopathy and CHF

Gait ataxia

Spastic muscle weakness

Loss of position and vibration sensation

Diabetes mellitus

A

Friedreich ataxia

AR

Mutated frataxin gene –> GAA repeats

Decreased mitochondrial energy production and increased oxidant stress –>

  1. Spinocerebellar and Lateral corticospinal tract degeneration
  2. Dorsal column and DRG degeneration
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21
Q

Enteropeptidase is responsible for activation of what? Where is it located?

A

Trypsin

Jejunal brush border enzyme

Deficiency = protein and fat malabsorption –> diarrhea, failure to thrive, edema

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22
Q

Lesion of the lateral optic chiasm can cause ipsilateral nasal hemianopia. An issue with what artery can cause this issue?

A

Aneurysm of the internal carotid (cavernous or opthalmic segments)

*uncrossed optic nerve fibers from the temporal portion of the retina*

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23
Q

Spontaneous deep intracerebral hemorrhage

A

Hypertensive vasculopathy from penetrating branches of major cerebral arteries.

Basal ganglia (putamen), cerebellar nuclei, thalamus, pons

Lenticulostriate arteries off MCA –> basal ganglia

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24
Q

Postpartum hemorrhage is usually due to what artery?

A

Internal iliac –> uterine arteries

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25
Clue cells
Epithelial cells covered with gram-variable rods Gardnerella vaginalis (bacterial vaginosis) Off-white discharge Fishy odor Metronidazole or Clindamycin
26
Thick cottage cheese discharge from cervix Normal pH
Candida vaginitis Pseudohyphae Give Fluconazole
27
Most characteristic skeletal abnormality of Primary Hyperparathyroidism
**Osteitis Fibrosa Cystica:** Cortical (compact) bone: pelvic girdle, pectoral girdle, limbs) Bone pain Subperiosteal erosions affecting fingers Salt-and-pepper skull Brown tumor bone cysts in long bones
28
Pt presents with constipation, new-onset 2nd degree AV block, and syncope in the setting of a new medication for atrial fibrillation
Calcium channel block Diltiazem, Verapamil
29
Kid with poor exercise tolerance, muscle cramps, and rhabdomyolysis
McArdle disease Deficient myophosphorylase
30
Major virulence factor for Strep Pyogenes that inhibits phagocytosis and the activation of complement
Protein M
31
Functions of Insulin
Increases peripheral glucose uptake Inhibits lipolysis Inhibits ketoacid formation Decreases glucagon release
32
What class of antiarrythmetics prolongs QRS duration without affecting the QT interval?
Class 1C Flecainide Propafenone \*only affect fast sodium channels\*
33
Direct thrombin inhibitors are the DOC for treating what? Why?
Heparin-induced thrombocytopenia (HIT) They do not require antithrombin-3 for their action because they bind directly to the thrombin active site. Argatroban, Hirudin, Lepirudin
34
Which TB drug causes optic neuropathy?
Ethambutol
35
Ascertaining a patient's volume status and checking urine chloride are important steps in working up what?
Metabolic Alkalosis
36
Crescent formation in RPGN is caused by the deposition of what?
Deposition of fibrin within Bowman's space + proliferatied glomerular parietal cells, monocytes, macrophages that have migrated into Bowman's space
37
What lab value should be checked before initiation of metformin?
Serum creatinine Metformin inhibits hepatic gluconeogenesis and increases peripheral glucose utilization. Lactic acidosis is a rare complication of metformin therapy, but it's risk is increased in pts with underlying renal insufficiency.
38
Host cell is coinfected with 2 viral strains and progeny virions contain unchanged parental genome from 1 strain and nucleocapsid (or envelope) proteins from the other strain.
Phenotypic Mixing Due to the lack of change in the underlying genome, subsequent progeny will revert to having only one viras type surface protein again.
39
Autopsy findings of endocardial thickening and fibrosis of tricuspid and pulmonary valves are characteristic of what?
Carcinoid heart disease
40
Pathogenesis of carcinoid heart disease
Excessive secretion of serotonin, which stimulates fibroblast growth and fibrogenesis. Plaque like deposits of fibrous tissue usually in endocardium, lead to tricuspid regurgitation, pulmonic valve issues, and right sided heart failure (ascites, peripheral edema)
41
Why is carcinoid heart disease limited to the right side of the heart?
Vasoactive products are inactivated distally by pulmonary vascular endothelial MAO
42
27 y/o with recurrent episodes of muscle weakness (hypokalemia), high BP, very low plasma renin
Primary Hyperaldosteronism Bilateral nodular hyperplasia Hyperfunctioning adrenal glomerulosa (mineralocorticoids) or an aldosterone-producing adrenal adenoma (Conn syndrome)
43
Proto-oncogenes stimulate cell proliferation, and their overexpression/amplification (activating mutation) leads to increased cellular proliferation and neoplastic growth. What are they?
ABL BRAF HER1/2 MYC RAS (KRAS, HRAS) SIS TGFA
44
What are the tumor suppressor genes? Their inactivation contributes to tumor development.
APC BRCA DCC NF1 RB TP53 VHL WT1
45
Infection with systemic symptoms (fever, wt. loss), painful oral ulcers, lymphadenopathy, and hepatosplenomegaly.
Histoplasma Causes disseminated mycosis in immunocompromised pts. Can survive intracellularly within macrophages.
46
What bug is + for PYR (pyrrolidonyl arylamidase)?
Strep Pyogenes PYR is more specific than bacitracin.
47
8 year old with vomiting and lethargy after a period of fasting. Low glucose, SUPER high AST and ALT. Begins seizing. What is deficient?
He has hypoketotic hypoglycemia Defect in fatty acid beta oxidation in the mitochondria. Most common enzymatic defect leading to this is acyl-coA dehydrogenase. This kid cannot oxidize fatty acids for energy or produce ketone bodies when fasting.
48
What would you treat MRSA with if a pt. is allergic to vancomycin?
Daptomycin Depolarizes cellular membrane by creating transmembrane channels. It is inactivated by surfactant so it is not useful for pneumonia. AE = Increased CPK, myopathy
49
Treatment of urea cycle disorders consists of what?
Balancing dietary protein intake and output, so the body receives the essential amino acids needed for growth and development but not in excess such that excessive ammonia is formed.
50
Pathogenesis of acute decompensated heart failure
Compensatory neurohumoral stimulation: increased sympathetic --\> RAAS activation --\> release of ADH This improves CO by increasing cardiac chronotropy and iontropy, expanding the extracellular fluid compartment, and causing arterial and venous vasoconstriction. BUT it also leads to increased afterload, excess fluid retention, and deleterious cardiac remodeling.
51
A parent's authority to make medical decisions for their children can be challenged in cases in which a child is at significant risk for harm. What should a Dr. do?
Obtain a court injunction to proceed with life-saving medical treatment of the child
52
A pt. with DiGeorge syndrome will cause what change in a lymph node?
Poor development of the LN paracortex due to an extreme deficiency in the number of mature T lymphocytes
53
Septic shock results from release of endotoxins. What is the source of endotoxin in Gram - bacteria?
Lipid A from LPS It activates macrophages and granulocytes leading to the synthesis of endogenous pyrogens (IL-1, prostaglandins, TNF alpha, interferon)
54
The posterior part of the external auditory canal is inervated by what nerve?
Vagus (auricular branch) Stimulation with an otoscope can cause vasovagal syncope --\> parasympathetic outflow via the vagus nerve leads to decreased HR and BP
55
The majority of the posterior surface of the heart is what?
LA
56
What lies posterior to the esophagus and can be seen with transesophageal echocardiography?
Descending thoracic aorta
57
Gastric varices found in the FUNDUS of the stomach are due to an issue with what vein?
Short gastric veins --\> splenic vein
58
Most inhaled particles that lodge in the bronchial tree are removed how?
Via proximal transport of mucus by ciliated epithelial cells (mucociliary clearance)
59
Macrophages are used to clear particles inhaled if in what part of the lung?
Distal to the terminal bronchioles
60
What drugs can be used to assist in prevention of cerebral vascular spasm after a subarachnoid hemorrhage?
Calcium channel blockers (specifically Nimodipine)
61
IgA protease produced by Neisseria species, strep pneumo, and h. flu has what purpose?
It cleaves secretory IgA at it's hinge region, rendering it ineffective. This allows bacteria to adhere to mucosa Secretory IgA normally acts to bind and inhibit the action of pili as well as other cell surface antigens that normally mediate mucosal adherence and subsequent penetration.
62
Child with Lower-extremity claudication (cramping with exercise), blood pressure discrepancy between the upper and lower extremities, and delayed or dimished femoral pulses
Aortic Coarctation Associated with Turner Syndrome (45, XO)
63
Myxomatous changes with pooling of proteoglycans in the media layer of large arteries are found in cystic medial degeneration, which predisposes to the development of what?
Aortic Dissections Aortic Aneurysms \*frequently seen with Marfan Syndrome\*
64
Concurrent use of a statin with what drugs is associated with increased incidence of statin-induced myopathy and rhabdomyolysis (and therefore acute renal failure)?
CYP 450 Inhibitors: CRACK AMIGOS
65
Maple Syrup Urine Disease
AR Defective breakdown of branched chain amino acids (leucine, isoleucine, and valine) Branched-chain alpha ketoacid dehydrogenase requires 5 cofactors: Thiamine Lipoate Coenzyme A FAD NAD
66
Branched chain alpha ketoacid dehydrogenase Pyruvate dehydrogenase Alpha-ketoglutarate dehydrogenase All of these require what?
Thiamine Lipoate Coenzyme A FAD NAD
67
Progressively weakening diaphragmatic contractions during maximal voluntary ventilation with intact phrenic nerve stimulation indicates what?
Neuromuscular junction pathology (MG) OR abnormally rapid diaphragmatic muscle fatigue (Restrictive lung disease or chest wall disease)
68
The adrenal medulla is sharply demarcated from the cortex and is composed of chromaffin cells with deeply basophilic cytoplasm. What activates the cells?
ACh
69
Down syndrome predisposes to what cancer?
ALL
70
A physiologic increase in maternal insulin resistance occurs during the 2nd and 3rd trimester due to the action of what?
Human Placental Lactogen (hPL) Secreted by the syncytiotrophoblast
71
A pt. from Guatemala with no underlying immunocompromising conditions has a seizure and is found to have a cystic lesion in his brain.
Neurocysticercosis Taenia Solium (pork tapeworm) Ingestion of eggs excreted in feces of human carriers Eosinophilia
72
Effects of Nitroprusside
Decreases LV preload and afterload No change in stroke volume
73
Acute angle closure glaucoma treatment preference works how?
Acetazolamide Inhibits carbonic anhydrase Affects the PCT
74
Child with hepatosplenomegaly, neurologic regression, hypotonia, and a cherry-red macular spot in infancy
Neimann-Pick disease AR Ashkenazi Jews Sphingomyelinase deficiency Accumulation of sphingomyelin
75
Ehler's Danlos syndrome pathogenesis
Defective collagen synthesis Deficiency of procollagen peptidase, the enzyme that cleaves terminal propeptides from procollagen in the extracellular space. Joint laxity, hyperextensible skin, fragilt tissues with easy bruising, poor wound healing
76
The anterior compartment of the leg contains what?
Deep peroneal nerve Anterior tibial artery and veins
77
Empty can test is testing what muscle of the rotator cuff?
Supraspinatus Most commonly affected muscle due to chronic repeated trauma from impingement between the head of the humerus and the acromion during abduction.
78
Pts. with Chronic Granulomatous Disease develop recurrent bacterial and fungal infections that are caused by what?
5 catalase-positive organisms: Staph aureus Burkholderia cepacia Serratia Nocardia Aspergillus
79
Complication that happens within 5-14 days of a large anterior transmural MI
Free wall rupture --\> hemopericardium and tamponade --\> profound hypotension and shock During this timeframe, the infarcted myocardium is substantially weakened by coagulative necrosis, neutrophilic and macrophage infiltration, and enzymatic lysis of myocardial connective tissue.
80
A 1 month old male with persistent jaundice, muscle rigidity, lethargy, and seizures. What is the most likely cause of his hyperbilirubinemia?
Absent UGT (liver conjugation enzyme) needed to catalyze bile glucuronidation. Crigler-Najjar Type 1 (AR)
81
Exaggerated drop in systolic BP during inspiration
Pulsus Paradoxus Impaired expansion into pericardial space
82
Most frequent causes of pulsus paradoxus in the absence of significant pericardial disease?
Astham COPD
83
Drugs used for acute asthma and COPD exacerbations
Beta-adrenergic agonists --\> cause bronchial smooth muscle relaxation via increased intracellular cAMP
84
Best treatment for generalized epilepsy
Broad-spectrum anticonvulsants: Valproic acid Lamotrigine Topiramate
85
Hexagonal shaped urinary crystals
Cystinuria (Aminoaciduria) Sodium cyanide-nitroprusside test Treat = increased hydration and urinary alkalinization (acetazolamide)
86
Spina bifida has what mode of inheritance?
Multifactorial
87
Cholesterol Gallstones
MC type Due to decreased amounts of bile aids and phospholipids cause the bile to become supersaturated with cholesterol. Treat = hydrophilic bild acids will promote gallstone dissolution
88
Human tumor cells can resist chemotherapy via the human multidrug resistance (MDR1) gene. This makes what?
P-glycoprotein, a transmembrane protein that functions as an ATP-dependent efflux pump. This can actively remove chemo agents, particularly hydrophobic agents like the anthracyclines.
89
At low doses, Atenolol is selective for what?
Selective B1 adrenergic antagonist Only works on cardiac and renal juxtaglomerular cells NOT vascular smooth muscle
90
Pt. with HIV with HA, seizures, and multiple ring enhancing CNS lesions on MRI
Toxoplasmic Encephalitis
91
Pigment gall stones
Calcium salts of unconjugated bilirubin Soft, dark brown to black Usually arise secondary to bacterial or helminthic infection of the biliary tract resulting in the release of beta-glucuronidase by injured hepatocytes and bacteria. Beta-glucuronidase hydrolyzes bilirubin glucuronides and increases the amound of unconjugated bilirubin.

UWORLD STEP 1 (8 decks)

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