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USMLE Step 1 Test - uWorld High Yield Notes || With 100% Correct Solutions USMLE Step 1 Test - uWorld High Yield Notes || With 100% Correct Solutions What is the defect in Niemann-Pick disease? What causes that? What is the common macular finding? - ANSWER - Sphingolipid degradation is defec...

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  • 28 décembre 2024
  • 36
  • 2024/2025
  • Examen
  • Questions et réponses

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  • lesch nyhan syndrome
  • usmle step 1 test uworld high yield notes
  • what is the characteristic histology of a cranioph
  • can a competent patient refuse healthcare
  • what is the ultimate action of anp

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  • USMLE - United States Medical Licensing
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USMLE Step 1 Test - uWorld
High Yield Notes || With 100%
Correct Solutions




Conceptial Research ||
2024

, USMLE Step 1 Test - uWorld High Yield
Notes || With 100% Correct Solutions
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? - ANSWER
- Kinesin.

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.

Where do craniopharyngyomas arise from? - ANSWER - Craniopharyngiomas are
calcified cystic tumors that arise from remnants of Rathke's pouch (embryonic precuros
of the anterior pituitary)

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? - ANSWER -
Mitochondrial 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.

Failure of what process leads due neural tube defects? What can be seen in the
amniotic fluid due to leakage of fetal cebebrospinal fluid? - ANSWER - Failure of fusion
of the neuropores.

Alpha-fetoprotein and Acetylcholinesterase may appear in the amniotic fluid

Can a competent patient refuse healthcare? Can a competent patient refuse knowledge
of their potential health situation? - ANSWER - yes and yes

What is the consensus and professional standard regarding the receiving of gifts from
patients? - ANSWER - Don't do it. It's unethical to accept individual gifts from patients,
especially of signficant value.

AMA doesn't have clear cut answer, but they recommend careful consideration be used.
some general guidelines:

-cash gifts should never be accepted (this includes gift certificates)
-a gift should never influence treatment
-no specific dollar value is given; but as a rule of thumb, it shouldn't be above patient's
or physician's means
-psychiatrist must be super careful even with small gifts
-maintain consistency among all patients
-if physician would be embarrassed or uncomfortable if his colleagues found out about
the gift, don't accept it

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