USMLE Step 1 - uWorld High Yield Notes Exam

USMLE Step 1 - uWorld High Yield Notes Exam

What are the two major microtubular motor proteins? Which does anterograde axonal
transport, which does retrograde axonal transport? - Answer-Kinesin, Dynein
Kinesin: Anterograde
Dynein: Retrograde`
What do you think, immunologically speaking, when you see someone with recurrent
Neisseria infections? - Answer-Inability to form the membrane attack (MAC) complex
this is a common complement deficiency
What is the defect in Chronic Granulomatous disease? What is the pathophysiology? -
Answer-NADPH Oxidase deficiency leads to the inability to kill intracellular organisms
Characteristic triad of ataxia telangiectasia? - Answer-cerebellar ataxia, telangiectasias,
increased risk of sinopulmonary infections
What is the major immune deficiency of ataxia telangiectasia? - Answer-IgA deficiency,
which predisposes to infections of the upper and lower airways (and other mucous
membranes)
There's a useful mnemonic for Ataxia Telangiectasia and the gene that's mutated. What
is it? - Answer-ATM
Ataxia
Telangiectasia
Mutated
ATM gene is responsible for DNA break repair
What is one reason that lead intoxication causes hypochromic anemia? - AnswerMitochondrial iron transport is important for Heme synthesis! It's inhibited by lead. So
you don't make heme in your mitochondria and you get hypochromic anemia.
What is the biochemical problem in Lesch-Nyhan syndrome? (And, only if you got that
right, what are the really cool symptoms of it?) - Answer-Defective purine catabolism, so
buildup of purines. It's an X-linked recessive disorder with mutated HGPRT gene
(hypoxanthine-guanine phosphoribosyltransferase, if you want to impress people).
Now, if you got HGPRT and purine catabolism right, you can say: self-mutilating
behavior on top of mental retardation, choreoathetoid (think Chorea) movements and
spasticity.
What is the defect in Niemann-Pick disease?
What causes that?
What is the common macular finding? - Answer-Sphingolipid degradation is defective
Caused by an autosomal recessive defect in sphingomyelinase
Cherry Spot on the macula? Niemann Pick's or Tay Sach's.
If a baby gets exposed to an unclean knife (...) and subsequently develops rigid
paralysis, what is the diagnosis, where do we think this might happen, and how do we
prevent it? - Answer-Neonatal Tetanus
Developing Countries
Maternal immunization with tetanus toxoid is the best way to prevent it
an adeuately immunized mom will transfer IgG's across the placenta to the neonate
Which microtubule associated protein aids in anterograde transport of intracellular
vesicles and organelles? Which end of the microtubule do they go towards? - AnswerKinesin.
Towards the (+) rapidly growing end.
What is an early BRAIN finding of Ataxia-Telangiectasia and how does it manifest itself?
- Answer-Cerebellar atrophy
manifests as ataxia in the first years of life.
High yield path association for Alzheimer's disease? - Answer-Neurofibrillary tangles in
the neocortex
High yield path association for Parkinson's disease? - Answer-Loss of neurons in the
substantia nigra
High yield path association for Huntington disease? - Answer-Atrophy of caudate
nucleus
What are the major manifestations of Ataxia-telangiectasia? - Answer-cerebellar ataxia,
oculocutaneous tenlangiectasias, repeated sinopulmonary infections, and an increased
incidence of malignancy
If you heard: amenorrhea, bitemporal hemianopsia, and enlargement of the pituitary
gland on brain imaging, what would you be thinking? - Answer-Prolactinoma, the most
common pituitary adenoma.
What embryological layer is the anterior pituitary derived from? - Answer-Surface
ectoderm
What is the most common congenital abnormality associated with the use of Sodium
Valproate during pregnancy? - Answer-neural tube defects, e.g., meningocele
because valproate inhibits intestinal folic acid absorption resulting in teratogenicity
What is the characteristic histology of a craniopharyngioma? - Answer-On light
microscopy, cysts are lined by stratified squamous epithelium, possibly with Keratin
perals. Cysts are usually filled iwth a yellow, viscous fluid that's rich in cholesterol
crystals.

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