Lesch nyhan syndrome - Study guides, Class notes & Summaries

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USMLE Step 1 - uWorld High Yield Notes Exam 2023
  • USMLE Step 1 - uWorld High Yield Notes Exam 2023

  • Exam (elaborations) • 35 pages • 2023
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  • USMLE Step 1 - uWorld High Yield Notes Exam 2023 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 Granulom...
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PATHOLOGY HIGH YIELD NBME  ELABORATED QUESTIONS AND  REVIEWED ANSWERS 2023/2024
  • PATHOLOGY HIGH YIELD NBME ELABORATED QUESTIONS AND REVIEWED ANSWERS 2023/2024

  • Exam (elaborations) • 82 pages • 2023
  • PATHOLOGY HIGH YIELD NBME ELABORATED QUESTIONS AND REVIEWED ANSWERS 2023/2024 Anticentromere antibodies - CORRECT ANSWER-Scleroderma (CREST) Antidesmoglein (epithelial) antibodies - CORRECT ANSWER-Pemphigus vulgaris (blistering) Anti-glomerular basement membrane antibodies - CORRECT ANSWER-Goodpasture's syndrome (glomerulonehpritis and hemoptysis) Antihistone antibodies - CORRECT ANSWER-Drug-induced SLE (hydralazine, isoniazid, phenytoin, procainamide) Anti-IgG antibodies - CORRE...
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NBME 26 Questions with Complete  Correct Answers | Grade A+
  • NBME 26 Questions with Complete Correct Answers | Grade A+

  • Exam (elaborations) • 414 pages • 2024
  • 1 ---------- Exam Section 1: Item 2 of 50 National, Board of Medical Examiners Comprehensive Basic Science Self-Assessment 2. Free purine and pyrimidine bases are reutilized in normal metabolism. In children with Lesch-Nyhan syndrome who have intellectual disability, poor muscle coordination, and selfmutilation tendencies, there is a defect in the salvage of which of the following pairs of bases? A) Adenine and thymine B) Guanine and hypoxanthine C) Guanine and uric acid D) Uracil a...
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USMLE STEP 1 - UWORLD HIGH YIELD EXAM | QUESTIONS AND ANSWERS | 2024
  • USMLE STEP 1 - UWORLD HIGH YIELD EXAM | QUESTIONS AND ANSWERS | 2024

  • Exam (elaborations) • 35 pages • 2024
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  • USMLE STEP 1 - UWORLD HIGH YIELD EXAM | QUESTIONS AND ANSWERS | 2024 What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in...
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USMLE Step 1 Rapid Review Questions With Correct Solutions, Already Passed!!
  • USMLE Step 1 Rapid Review Questions With Correct Solutions, Already Passed!!

  • Exam (elaborations) • 17 pages • 2024
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  • Che Gout, MR, self-mutilating behavior in a boy - Lesch-Nyhan syndrome (HGPRT deficiency, Xlinked recessive) st pain, pericardial effusion/friction rub, persistent fever following MI - Dressler's (autoimmune post-MI) Achilles tendon xanthoma - Familial hypercholesterolemia Adrenal hemorrhage, hypotension, DIC - Waterhouse-Friderichsen syndrome (meningococcemia) Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - Marfan's (fibrillin defect) Athlete with polycythemi...
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USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score
  • USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score

  • Exam (elaborations) • 60 pages • 2024
  • 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 defi...
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BIO 315 Exam 1 Questions and Answers 100% Pass
  • BIO 315 Exam 1 Questions and Answers 100% Pass

  • Exam (elaborations) • 17 pages • 2024
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  • BIO 315 Exam 1 Questions and Answers 100% Pass Humans have 23 pairs of chromosomes. Chromosomes 1-22 are best referred to as ______. a. Centromeres b. Autosomes c. Karyotype d. Nuclei e. Sex chromosomes - Correct Answer ️️ -B How many DNA molecules would be found in a single chromosome? a. 4 b. 10 c. More than 10 d. 1 e. 2 - Correct Answer ️️ -D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Correct Answer...
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OT 667 Pediatric Test 2 (Psychology) Questions And Answers
  • OT 667 Pediatric Test 2 (Psychology) Questions And Answers

  • Exam (elaborations) • 95 pages • 2024
  • OT 667 Pediatric Test 2 (Psychology) Questions And Answers T/F Children with developmental disabilities may face psychiatric illnesses specific to their disorder - ANS-true T/F The presence of developmental disability can alter symptomatic presentation of psychiatric disorders, making accurate diagnosis more difficult - ANS-true When "dual diagnosis" is not recognized, children can- - ANS-fail in educational and social settings. be unmanageable at home, and show aggression and self-inj...
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BIO 315 Exam 1 Questions and Answers 100% Pass
  • BIO 315 Exam 1 Questions and Answers 100% Pass

  • Exam (elaborations) • 17 pages • 2024
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  • BIO 315 Exam 1 Questions and Answers 100% Pass Humans have 23 pairs of chromosomes. Chromosomes 1-22 are best referred to as ______. a. Centromeres b. Autosomes c. Karyotype d. Nuclei e. Sex chromosomes - Correct Answer ️️ -B How many DNA molecules would be found in a single chromosome? a. 4 b. 10 c. More than 10 d. 1 e. 2 - Correct Answer ️️ -D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Correct Answer...
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USMLE Actual preparation test exam with Thorough and Correct Answers Updated 2024/2025
  • USMLE Actual preparation test exam with Thorough and Correct Answers Updated 2024/2025

  • Exam (elaborations) • 24 pages • 2024
  • USMLE Actual preparation test exam with Thorough and Correct Answers Updated 2024/2025 Fever, cough, conjunctivitis, coryza, diffuse rash, Koplick spots - correct answer Measles Fever, night sweats, weight loss - correct answer B symptoms or TB Fibrous plaques in soft tissue of penis - correct answer Peyronie's disease Gout, MR, self-mutilating behavior in a boy - correct answer Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) Green-yellow rings around pe...
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