Diagnostic approaches US Medical PG Flashcards - Medical Study Cards
Master Diagnostic approaches with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Diagnostic approaches Flashcard Deck - 10 Cards
Flashcard 1: What substrate accumulates in the lysosomes of a patient with Niemann Pick disease? _____
Answer: Sphingomyelin
Flashcard 2: What substrate accumulates in the lysosomes of a patient with Tay-Sachs disease? _____
Answer: GM2 ganglioside
Flashcard 3: _____ is a lysosomal storage disease caused by frameshift mutations.
Answer: Tay-Sachs
Flashcard 4: _____ is a laboratory technique used for specific localization of genes and direct visualization of chromosomal anomalies
Answer: Fluoresence in situ hybridization (FISH)
Flashcard 5: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____
Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)
Flashcard 6: Which lysosomal storage disease is characterized by a cherry red spot on the macula and hepatosplenomegaly? _____
Answer: Niemann Pick disease
Flashcard 7: Describe, in general, the lysosomal storage diseases.
Answer: Diverse group of diseases resulting from defects in lysosomal enzymes, characterized by an accumulation of abnormal metabolic products within cells.
Flashcard 8: Pompe's disease (GSD type II)
Answer:
Extra: heart, liver, muscle manifestations, esp. cardiomegaly; early death AR lysosomal α-1,4-glucosidase (acid maltase) mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
Flashcard 9: Where does mannose-6-phosphate tagging occur?
Answer: Golgi
Flashcard 10: A mannose-6-phosphate tag targets proteins for where?
Answer: lysosome
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