Maternal immunization with tetanus toxoid is the best way to prevent itĪn adeuately immunized mom will transfer IgG's across the placenta to the neonate 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 What is the common macular finding? Correct Answer: Sphingolipid degradation is defectiveĬaused by an autosomal recessive defect in sphingomyelinaseĬherry Spot on the macula? Niemann Pick's or Tay Sach's. What is the defect in Niemann-Pick disease? 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. It's an X-linked recessive disorder with mutated HGPRT gene (hypoxanthine-guanine phosphoribosyltransferase, if you want to impress people). 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. So you don't make heme in your mitochondria and you get hypochromic anemia.
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. What is it? Correct Answer: ATMĪTM gene is responsible for DNA break repair There's a useful mnemonic for Ataxia Telangiectasia and the gene that's mutated. 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) What is the defect in Chronic Granulomatous disease? What is the pathophysiology? Correct Answer: NADPH Oxidase deficiency leads to the inability to kill intracellular organismsĬharacteristic triad of ataxia telangiectasia? Correct Answer: cerebellar ataxia, telangiectasias, increased risk of sinopulmonary infections What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? Correct Answer: Inability to form the membrane attack (MAC) complex port, which does retrograde axonal transport? Correct Answer: Kinesin, Dynein
What are the two major microtubular motor proteins? Which does anterograde axonal trans. USMLE Step 1 – Uworld High Yield Notes Complete Test 2022/2023