USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score

USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Correct Answer ️️ -Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Correct 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? - Correct Answer ️️ -NADPH Oxidase deficiency leads to the inability to kill intracellular organisms Characteristic triad of ataxia telangiectasia? - Correct Answer ️️ -cerebellar ataxia, telangiectasias, increased risk of sinopulmonary infections What is the major immune deficiency of ataxia telangiectasia? - Correct 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? - Correct Answer ️️ -ATM Ataxia Telangiectasia Mutated ATM gene is responsible for DNA break repair What is one reason that lead intoxication causes hypochromic anemia? - Correct 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?) - Correct 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? - Correct 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? - Correct 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? - Correct Answer ️️ -Kinesin. Towards the (+) rapidly growing end. What is an early BRAIN finding of Ataxia-Telangiectasia and how does it manifest itself? - Correct Answer ️️ -Cerebellar atrophy manifests as ataxia in the first years of life. High yield path association for Alzheimer's disease? - Correct Answer ️️ - Neurofibrillary tangles in the neocortex High yield path association for Parkinson's disease? - Correct Answer ️️ -Loss of neurons in the substantia nigra High yield path association for Huntington disease? - Correct Answer ️️ -Atrophy of caudate nucleus What are the major manifestations of Ataxia-telangiectasia? - Correct 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? - Correct Answer ️️ - Prolactinoma, the most common pituitary adenoma. What embryological layer is the anterior pituitary derived from? - Correct Answer ️️ - Surface ectoderm What is the most common congenital abnormality associated with the use of Sodium Valproate during pregnancy? - Correct 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? - Correct 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? - Correct Answer ️️ -Craniopharyngiomas are calcified cystic tumors that arise from remnants of Rathke's pouch (embryonic precuros of the anterior pituitary) Failure of what process leads due neural tube defects? What can be seen in the amniotic fluid due to leakage of fetal cebebrospinal fluid? - Correct 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? - Correct Answer ️️ -yes and yes What is the consensus and professional standard regarding the receiving of gifts from patients? - Correct 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 sh