Ataxia telangiectasia - Study guides, Class notes & Summaries
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Biochemistry NBME Exam Questions and Complete Solutions Updated
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Biochemistry NBME Exam Questions and Complete Solutions Updated 
 
 
Histones 
beads on a string (analbeads) 
-rich in arginine and lysine 
-heterochromatin is condensed 
-euchromatin is transcribed 
 
-cytosine and adenine are methylated in DNA transcription allowing for mismatch enzymes in PROKARYOTES 
 
-histone methylation inactivates transcription of DNA. acetylation activates it 
nucleotides 
pure as gold are purines (adenine and guanine) 
-2 rings 
 
pyrimidines are Cut The Pie 
 
-uracil...
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USMLE PRACTICE STUDY QUESTIONS AND ANSWERS
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USMLE PRACTICE STUDY QUESTIONS 
AND ANSWERS 
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...
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USMLE Step 1 - uWorld High Yield Notes Question and answers 100% solved 2023
- Exam (elaborations) • 35 pages • 2023
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USMLE Step 1 - uWorld High Yield Notes Question and answers 100% solved 2023What 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 are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? 
Kinesin, Dynein 
 
Kinesin: Anterograde 
Dynein: Retrograde` 
 
 
 
What is the defect...
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Biochemistry NBME Exam Questions and Complete Solutions Updated
- Exam (elaborations) • 11 pages • 2024
-
Available in package deal
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- $8.49
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Biochemistry NBME Exam Questions and Complete Solutions Updated 
 
 
Histones 
beads on a string (analbeads) 
-rich in arginine and lysine 
-heterochromatin is condensed 
-euchromatin is transcribed 
 
-cytosine and adenine are methylated in DNA transcription allowing for mismatch enzymes in PROKARYOTES 
 
-histone methylation inactivates transcription of DNA. acetylation activates it 
nucleotides 
pure as gold are purines (adenine and guanine) 
-2 rings 
 
pyrimidines are Cut The Pie 
 
-uracil...
-
USMLE Step 1 - uWorld High Yield Notes
- Exam (elaborations) • 35 pages • 2023
-
- $12.93
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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? - A...
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USMLE STEP 1- First AidDiseases/Disorders/Deficiencies/Syndromes
- Exam (elaborations) • 24 pages • 2023
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USMLE STEP 1- First AidDiseases/Disorders/Deficiencies/Syndromes 
Exam 2023 (A+) 
Adenosine deaminase (ADA) deficiency - ANS-An immunodeficiency disorder and one 
type of SCIDs that is caused by an *inborn error in the metabolism of adenine*. The 
accumulation of adenine destroys both B and T lymphocytes. 
Increase in dATP is lymphotoxic 
Lesch-Nyhan syndrome - ANS-*Defective purine salvage due to absent HGPRT*, which 
converts hypoxanthine to IMP and guanine to GMP. Results in *excess uric ...
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CBSE High Yield/Mnemonics/Cases (with COMPLETE SOLUTION)
- Exam (elaborations) • 14 pages • 2023
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-cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of 
_________. 
-This is due to a defect in the ________gene responsible for ____________. 
-immune deficiency manifests as _______ - ataxia telangiectasia 
ATM gene responsible for DNA break repair 
IgA deficiency 
Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary 
infections...Dx= - Ataxia Telangiectasia 
Pt presents with Thrombocytopenia, Eczema, and Recur...
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CPHON Exam 117 Questions with Verified Answers,100% CORRECT
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CPHON Exam 117 Questions with Verified Answers 
 
Auer rods - CORRECT ANSWER AML distinguishing feature 
 
Leukemia - CORRECT ANSWER Malignant disorder of the blood and blood forming organs including the bone marrow, lymph nodes and spleen 
 
Cytogenetics for Leukemia - CORRECT ANSWER Ploidy; abnormalities found in more than 90% of patients with ALL; with number of chromosomes and structures (translocation) 
 
Hyperdiploidy in ALL - CORRECT ANSWER More than 46; favorable if not more than 50 
 
G...
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PAEA SUMMATIVE EXAM QUESTIONS AND SOLUTIONS LATEST UPDATE 2023
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PAEA SUMMATIVE 
EXAM QUESTIONS 
AND SOLUTIONS 
LATEST UPDATE 
2023 
Aortic Stenosis - ANSWER Systolic crescendo-decrescendo murmur best heard 
at the right upper sternal border 
radiating to the carotid artery. 
mid-systolic ejection murmur heard over the base of the heart 
(seen in rheumatic heart disease) 
Maneuver to Inc Aortic Stenosis murmur - ANSWER sitting while leaning forward 
increased venous return 
Cyanotic heart disease - ANSWER Tetralogy of Fallot 
Transposition of the Great Art...
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CBSE Biochemistry Questions with Correct Answers Latest Edition
- Exam (elaborations) • 46 pages • 2024
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Lesch-Nyhan Syndrome: what causes it and what are manifestations? - ***HGPRT deficiency in 
purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to 
GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is 
X linked recessive. Symptoms: hyperuricemia, gout, aggression / self mutilation, mental 
retardation, dystonia. 
2. Treatment for Lesch-Nyhan? - ***Allopurinol / febuxostat second line. Both of these drugs 
inhibit...
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