Amboss

Question 1

A Marfanoid habitus, bilateral inferomedial lens subluxation and intellectual disability are consistent with a diagnosis of what?

Answer 1

Homocystinuria

Question 2

Bilateral lenticular cataracts are usually the sole clinical manifestation of what deficiency?

Answer 2

Galactokinase deficiency

Question 3

What is the MOA by which fibrates are used for tx of dyslipidemia?

Answer 3

Inhibition of 7-α hydroxylase

Question 4

Most common form of congenital long QT syndrome (LQTS type 1) is due to a defect in what?

Answer 4

• Delayed-rectifier voltage-gated K+ channel
• Delayed repolarizaton of myocytes during phase 3

Question 5

Which embryological structure differentiates into the glomeruli, proximal tubules, loop of henle, and DCT’s?

Answer 5

Metanephric blastema (metanephric mesenchyme)

Question 6

Which sign/sx differentiates phencyclidine (PCP) from intoxication of cocaine or methamphetamine?

Answer 6

Miosis

Question 7

What is a type I vs. type II error in research?

Answer 7

• Type I = rejecting the null hypothesis when it is actually true = α level
• Type II = accepting the null hypothesis when it is actually false = β level

Question 8

Which measure of central tendency is sensitive to the presence of outliers?

Answer 8

The mean

Question 9

Which immature defense mechanism is the transformation of an unacceptable impulse into its polar opposite to avoid anxiety-provoking thoughts?

Answer 9

Reaction Formation

Question 10

Tall stature, gynecomastia, testicular hypoplasia, and mitral valve prolapse (high-frequency mid-systolic click) are features of what disorder?

Answer 10

Klinefelter syndrome (47,XXY)

Question 11

A decrease in the slope of phase 0 and prolongation of the AP duration are characteristic effects of which anti-arrhythmic class?

Answer 11

• Class 1A i.e., Quinidine, Procainamide, and Disopyramide
• Inhibit phase 0 depolarization by blocking Na+ channels
• Prolong AP duration through moderate blockade of K+ channels

Question 12

Fabry disease is due to a deficiency in what?

Answer 12

α-galactosidase A

Question 13

How does Fabry disease present and what is the most common cause of death in these pt’s?

Answer 13

• During childhood w/ paresthesias + hypohidrosis + angiokeratomas + cataracts
• Renal failure is the most common cause of death

Question 14

Which guanosine analog used as a anti-viral medication can cause crystal nephropathy as an AE?

Answer 14

Acyclovir

Question 15

There is an accumulation of what in pt’s with Alkaptonuria; leads to?

Answer 15

Homogentisate –> ochronosis, calcification of heart valves, nephrolithiasis, and arthralgia

Question 16

Which bias is characterized by subject’s changing their behavior once they are aware they’re being observed?

Answer 16

Hawthorne effect

Question 17

Which phenomenon is seen when an investigators’ knowledge or expectations about an intervention influences the measurement of an outcome?

Answer 17

Pygmalion effect

Question 18

Which vasculitis if left untreated can cause blindness?

Answer 18

Giant Cell (Temporal) Arteritis

Question 19

Which disease presents with recurrnt infections, failure to thrive, dermatitis, and increased serum IgE?

Answer 19

Hyper-IgE syndrome (Job syndrome)

Question 20

Recurrent otitis media, multiple petechiae, eczematous lesions over the scalp and extremities + ↑ serum IgE is associated with what disorder?

Answer 20

Wiskott-Aldrich Syndrome (X-linked)

Question 21

Which disease of childhood is characterized by gross-motor delay, self-mutilating behavior, and hyperuricemia?

Answer 21

Lesch-Nyhan syndrome

Question 22

Which drug is used to treat Hunter Syndrome?

Answer 22

Idursulfase

Question 23

Which enzyme deficiency manifests as hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur?

Answer 23

Gaucher disease = deficiency of β-glucocerebrosidase

Question 24

Histopathologic examination of which brain tumor will show areas of calcification, cyts, and necrosis?

Answer 24

Oligodendroglioma

Question 25

What would the first trimester screening of infant with Patau syndrome (trisomy 13) show decreased levels of?

Answer 25

PAPP-A and beta-HCG

Question 26

Low birth weight, microcephaly, rocker-bottom feet, microphthalmia, polydactyly, cleft lip and palate are all features of which disorder?

Answer 26

Trisomy 13 aka Patau syndrome

Question 27

How does Tiotropium differ from Theophylline in MOA?

Answer 27

• Tiotropium: is an antimuscarinic agent used for COPD/asthma; ↓ parasympathetic tone on the bronchioles
• Theophylline: is a mild bronchodilator used as adjunctive therapy for COPD. Inhibits phopshodiesterase and ↑ cAMP; has significant toxicities (N/V, seizures, and cardiac arrhythmias)

Question 28

How does social anxiety disorder differ from avoidant personality disorder?

Answer 28

• Social anxiety disorder: anxiety is driven by fear of embarrassment, rather than by feeling of rejection, inadequancy, or being disliked
• Avoidant personality: fear of rejection and feelings of inadequacy resulting in involuntary social withdraw; strong desire for social relationships

Question 29

There is an increased activity of what enzyme seen in pt’s with chronic sarcoidosis?

Answer 29

↑ 1α-hydroxylase within macrophages of the non-caseating granulomas

Question 30

Which chemotherapeutic agent inhibits and enzyme that adds and removes DNA sypercoils acting on the S phase and G2 phase of the cell cycle?

Answer 30

Teniposide; topoisomerase II inhibitor

Question 31

What is the route of transmission of Toxocara spp.?

Answer 31

Fecal-oral route; spread through ingestion of soil containing infective eggs

Question 32

Which nerve is responsible for dorisflexion and sensory innervation of the lateral calf and dorsum of the foot?

Answer 32

Common peroneal

Question 33

What are among the 5 most common malignancies which metastasize to bone?

Answer 33

• Breast cancer
• Lung cancer
• Thyroid cancer
• Renal cell carcinoma
• Prostate cancer

Question 34

A thrombus containing mucus and gelatinous material is characteristic of it arising from where?

Answer 34

Myxoma in the left atrium

Question 35

Which maneuvers on PE will diminish the murmur intensity in a patient with hypertrophic obstructive cardiomyopathy?

Answer 35

• Passive leg raise
• Hand gripping
• Squatting

* ↑ venous return to heart –> ↑ LVEDV + ↑ ventricular stretch –> ↓ outflow tract obstruction

Question 36

Which vein connects the IVC and SVC and can serve as an alternative pathway for deoxygenated blood to return to the RA if the SVC or IVC ar obstructed?

Answer 36

Azygos v.

Question 37

Which structures pass through the diaphragmatic aperature at T8?

Answer 37

• IVC
• Branches of the right phrenic n.

Question 38

Which 3 structures pass through the diaphragmatic aperature at T10?

Answer 38

• Esophagus
• Left and right vagus n.
• Esophageal branches of left gastric vessels

Question 39

Which 3 structures pass through the diaphragmatic aperature at T12?

Answer 39

• Aorta
• Azygos vein
• Thoracic duct

Question 40

The serum concentration of what will be characteristically reduced in pt with arginase deficiency?

Answer 40

Serum urea nitrogen concentration

Question 41

Increased levels of what will be detcted in the urine of a patient with acute intermittent porphyria (AIP)?

Answer 41

↑ urine porphobilinogen

Question 42

Necrolytic migratory erythemia is a paraneoplastic reaction associated with what?

Answer 42

Glucagonoma