Amboss Flashcards
A Marfanoid habitus, bilateral inferomedial lens subluxation and intellectual disability are consistent with a diagnosis of what?
Homocystinuria
Bilateral lenticular cataracts are usually the sole clinical manifestation of what deficiency?
Galactokinase deficiency
What is the MOA by which fibrates are used for tx of dyslipidemia?
Inhibition of 7-α hydroxylase
Most common form of congenital long QT syndrome (LQTS type 1) is due to a defect in what?
- Delayed-rectifier voltage-gated K+ channel
- Delayed repolarizaton of myocytes during phase 3
Which embryological structure differentiates into the glomeruli, proximal tubules, loop of henle, and DCT’s?
Metanephric blastema (metanephric mesenchyme)
Which sign/sx differentiates phencyclidine (PCP) from intoxication of cocaine or methamphetamine?
Miosis
What is a type I vs. type II error in research?
- 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
Which measure of central tendency is sensitive to the presence of outliers?
The mean
Which immature defense mechanism is the transformation of an unacceptable impulse into its polar opposite to avoid anxiety-provoking thoughts?
Reaction Formation
Tall stature, gynecomastia, testicular hypoplasia, and mitral valve prolapse (high-frequency mid-systolic click) are features of what disorder?
Klinefelter syndrome (47,XXY)
A decrease in the slope of phase 0 and prolongation of the AP duration are characteristic effects of which anti-arrhythmic class?
- 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
Fabry disease is due to a deficiency in what?
α-galactosidase A
How does Fabry disease present and what is the most common cause of death in these pt’s?
- During childhood w/ paresthesias + hypohidrosis + angiokeratomas + cataracts
- Renal failure is the most common cause of death
Which guanosine analog used as a anti-viral medication can cause crystal nephropathy as an AE?
Acyclovir
There is an accumulation of what in pt’s with Alkaptonuria; leads to?
Homogentisate –> ochronosis, calcification of heart valves, nephrolithiasis, and arthralgia
Which bias is characterized by subject’s changing their behavior once they are aware they’re being observed?
Hawthorne effect
Which phenomenon is seen when an investigators’ knowledge or expectations about an intervention influences the measurement of an outcome?
Pygmalion effect
Which vasculitis if left untreated can cause blindness?
Giant Cell (Temporal) Arteritis
Which disease presents with recurrnt infections, failure to thrive, dermatitis, and increased serum IgE?
Hyper-IgE syndrome (Job syndrome)
Recurrent otitis media, multiple petechiae, eczematous lesions over the scalp and extremities + ↑ serum IgE is associated with what disorder?
Wiskott-Aldrich Syndrome (X-linked)
Which disease of childhood is characterized by gross-motor delay, self-mutilating behavior, and hyperuricemia?
Lesch-Nyhan syndrome
Which drug is used to treat Hunter Syndrome?
Idursulfase
Which enzyme deficiency manifests as hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur?
Gaucher disease = deficiency of β-glucocerebrosidase
Histopathologic examination of which brain tumor will show areas of calcification, cyts, and necrosis?
Oligodendroglioma
What would the first trimester screening of infant with Patau syndrome (trisomy 13) show decreased levels of?
PAPP-A and beta-HCG
Low birth weight, microcephaly, rocker-bottom feet, microphthalmia, polydactyly, cleft lip and palate are all features of which disorder?
Trisomy 13 aka Patau syndrome
How does Tiotropium differ from Theophylline in MOA?
- 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)
How does social anxiety disorder differ from avoidant personality disorder?
- 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
There is an increased activity of what enzyme seen in pt’s with chronic sarcoidosis?
↑ 1α-hydroxylase within macrophages of the non-caseating granulomas
Which chemotherapeutic agent inhibits and enzyme that adds and removes DNA sypercoils acting on the S phase and G2 phase of the cell cycle?
Teniposide; topoisomerase II inhibitor
What is the route of transmission of Toxocara spp.?
Fecal-oral route; spread through ingestion of soil containing infective eggs
Which nerve is responsible for dorisflexion and sensory innervation of the lateral calf and dorsum of the foot?
Common peroneal
What are among the 5 most common malignancies which metastasize to bone?
- Breast cancer
- Lung cancer
- Thyroid cancer
- Renal cell carcinoma
- Prostate cancer
A thrombus containing mucus and gelatinous material is characteristic of it arising from where?
Myxoma in the left atrium
Which maneuvers on PE will diminish the murmur intensity in a patient with hypertrophic obstructive cardiomyopathy?
- Passive leg raise
- Hand gripping
- Squatting
* ↑ venous return to heart –> ↑ LVEDV + ↑ ventricular stretch –> ↓ outflow tract obstruction
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?
Azygos v.
Which structures pass through the diaphragmatic aperature at T8?
- IVC
- Branches of the right phrenic n.
Which 3 structures pass through the diaphragmatic aperature at T10?
- Esophagus
- Left and right vagus n.
- Esophageal branches of left gastric vessels
Which 3 structures pass through the diaphragmatic aperature at T12?
- Aorta
- Azygos vein
- Thoracic duct
The serum concentration of what will be characteristically reduced in pt with arginase deficiency?
Serum urea nitrogen concentration
Increased levels of what will be detcted in the urine of a patient with acute intermittent porphyria (AIP)?
↑ urine porphobilinogen
Necrolytic migratory erythemia is a paraneoplastic reaction associated with what?
Glucagonoma
