2/19/25, 5:35 PM USMLE Step 1 - uWorld High Yield Notes Exam 2025 | Questions and Answers Flashcards | Quizlet
USMLE Step 1 - uWorld High Yield Notes Exam
2025 | Questions and Answers
Save
Terms in this set (274)
What are the two major Kinesin, Dynein
microtubular motor
proteins? Which does Kinesin: Anterograde
anterograde axonal Dynein: Retrograde`
transport, which does
retrograde axonal
transport?
What do you think, Inability to form the membrane attack (MAC)
immunologically complex
speaking, when you see this is a common complement deficiency
someone with recurrent
Neisseria infections?
What is the defect in NADPH Oxidase deficiency leads to the inability to
Chronic Granulomatous kill intracellular organisms
disease? What is the
pathophysiology?
Characteristic triad of cerebellar ataxia, telangiectasias, increased risk of
ataxia telangiectasia? sinopulmonary infections
What is the major IgA deficiency, which predisposes to infections of
immune deficiency of the upper and lower airways (and other mucous
ataxia telangiectasia? membranes)
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 1/21
,2/19/25, 5:35 PM USMLE Step 1 - uWorld High Yield Notes Exam 2025 | Questions and Answers Flashcards | Quizlet
ATM
There's a useful
mnemonic for Ataxia Ataxia
Telangiectasia and the Telangiectasia
gene that's mutated. Mutated
What is it?
ATM gene is responsible for DNA break repair
Mitochondrial iron transport is important for
What is one reason that
Heme synthesis! It's inhibited by lead. So you
lead intoxication causes
don't make heme in your mitochondria and you
hypochromic anemia?
get hypochromic anemia.
Defective purine catabolism, so buildup of
purines. It's an X-linked recessive disorder with
What is the biochemical mutated HGPRT gene (hypoxanthine-guanine
problem in Lesch-Nyhan phosphoribosyltransferase, if you want to impress
syndrome? (And, only if people).
you got that right, what
are the really cool Now, if you got HGPRT and purine catabolism
symptoms of it?) right, you can say: self-mutilating behavior on top
of mental retardation, choreoathetoid (think
Chorea) movements and spasticity.
What is the defect in Sphingolipid degradation is defective
Niemann-Pick disease? Caused by an autosomal recessive defect in
What causes that? sphingomyelinase
What is the common Cherry Spot on the macula? Niemann Pick's or Tay
macular finding? Sach's.
If a baby gets exposed Neonatal Tetanus
to an unclean knife (...) Developing Countries
and subsequently Maternal immunization with tetanus toxoid is the
develops rigid paralysis, best way to prevent it
what is the diagnosis,
where do we think this an adeuately immunized mom will transfer IgG's
might happen, and how across the placenta to the neonate
do we prevent it?
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 2/21
, 2/19/25, 5:35 PM USMLE Step 1 - uWorld High Yield Notes Exam 2025 | Questions and Answers Flashcards | Quizlet
Which microtubule Kinesin.
associated protein aids
in anterograde transport Towards the (+) rapidly growing end.
of intracellular vesicles
and organelles? Which
end of the microtubule
do they go towards?
What is an early BRAIN Cerebellar atrophy
finding of Ataxia-
Telangiectasia and how manifests as ataxia in the first years of life.
does it manifest itself?
High yield path Neurofibrillary tangles in the neocortex
association for
Alzheimer's disease?
High yield path Loss of neurons in the substantia nigra
association for
Parkinson's disease?
High yield path Atrophy of caudate nucleus
association for
Huntington disease?
cerebellar ataxia, oculocutaneous
What are the major
tenlangiectasias, repeated sinopulmonary
manifestations of
infections, and an increased incidence of
Ataxia-telangiectasia?
malignancy
If you heard: Prolactinoma, the most common pituitary
amenorrhea, bitemporal adenoma.
hemianopsia, and
enlargement of the
pituitary gland on brain
imaging, what would
you be thinking?
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 3/21
USMLE Step 1 - uWorld High Yield Notes Exam
2025 | Questions and Answers
Save
Terms in this set (274)
What are the two major Kinesin, Dynein
microtubular motor
proteins? Which does Kinesin: Anterograde
anterograde axonal Dynein: Retrograde`
transport, which does
retrograde axonal
transport?
What do you think, Inability to form the membrane attack (MAC)
immunologically complex
speaking, when you see this is a common complement deficiency
someone with recurrent
Neisseria infections?
What is the defect in NADPH Oxidase deficiency leads to the inability to
Chronic Granulomatous kill intracellular organisms
disease? What is the
pathophysiology?
Characteristic triad of cerebellar ataxia, telangiectasias, increased risk of
ataxia telangiectasia? sinopulmonary infections
What is the major IgA deficiency, which predisposes to infections of
immune deficiency of the upper and lower airways (and other mucous
ataxia telangiectasia? membranes)
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 1/21
,2/19/25, 5:35 PM USMLE Step 1 - uWorld High Yield Notes Exam 2025 | Questions and Answers Flashcards | Quizlet
ATM
There's a useful
mnemonic for Ataxia Ataxia
Telangiectasia and the Telangiectasia
gene that's mutated. Mutated
What is it?
ATM gene is responsible for DNA break repair
Mitochondrial iron transport is important for
What is one reason that
Heme synthesis! It's inhibited by lead. So you
lead intoxication causes
don't make heme in your mitochondria and you
hypochromic anemia?
get hypochromic anemia.
Defective purine catabolism, so buildup of
purines. It's an X-linked recessive disorder with
What is the biochemical mutated HGPRT gene (hypoxanthine-guanine
problem in Lesch-Nyhan phosphoribosyltransferase, if you want to impress
syndrome? (And, only if people).
you got that right, what
are the really cool Now, if you got HGPRT and purine catabolism
symptoms of it?) right, you can say: self-mutilating behavior on top
of mental retardation, choreoathetoid (think
Chorea) movements and spasticity.
What is the defect in Sphingolipid degradation is defective
Niemann-Pick disease? Caused by an autosomal recessive defect in
What causes that? sphingomyelinase
What is the common Cherry Spot on the macula? Niemann Pick's or Tay
macular finding? Sach's.
If a baby gets exposed Neonatal Tetanus
to an unclean knife (...) Developing Countries
and subsequently Maternal immunization with tetanus toxoid is the
develops rigid paralysis, best way to prevent it
what is the diagnosis,
where do we think this an adeuately immunized mom will transfer IgG's
might happen, and how across the placenta to the neonate
do we prevent it?
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 2/21
, 2/19/25, 5:35 PM USMLE Step 1 - uWorld High Yield Notes Exam 2025 | Questions and Answers Flashcards | Quizlet
Which microtubule Kinesin.
associated protein aids
in anterograde transport Towards the (+) rapidly growing end.
of intracellular vesicles
and organelles? Which
end of the microtubule
do they go towards?
What is an early BRAIN Cerebellar atrophy
finding of Ataxia-
Telangiectasia and how manifests as ataxia in the first years of life.
does it manifest itself?
High yield path Neurofibrillary tangles in the neocortex
association for
Alzheimer's disease?
High yield path Loss of neurons in the substantia nigra
association for
Parkinson's disease?
High yield path Atrophy of caudate nucleus
association for
Huntington disease?
cerebellar ataxia, oculocutaneous
What are the major
tenlangiectasias, repeated sinopulmonary
manifestations of
infections, and an increased incidence of
Ataxia-telangiectasia?
malignancy
If you heard: Prolactinoma, the most common pituitary
amenorrhea, bitemporal adenoma.
hemianopsia, and
enlargement of the
pituitary gland on brain
imaging, what would
you be thinking?
https://quizlet.com/1007928015/usmle-step-1-uworld-high-yield-notes-exam-2025-questions-and-answers-flash-cards/?new 3/21
