Podcast
Questions and Answers
Which staining method is positive for succinate dehydrogenase (SDH) in these fibers?
Which staining method is positive for succinate dehydrogenase (SDH) in these fibers?
- Cytochrome oxidase (COX) (correct)
- Masson's trichrome
- Hematoxylin and eosin (H&E)
- Periodic acid-Schiff (PAS)
What do the foci of scattered cytochrome-c- oxidase–negative fibers correspond to?
What do the foci of scattered cytochrome-c- oxidase–negative fibers correspond to?
- Accumulation of mitochondria (correct)
- Ragged blue fibers
- Defective mitochondria
- Impaired mitochondrial protein synthesis
What type of analysis is needed for genetic counseling in mitochondrial diseases?
What type of analysis is needed for genetic counseling in mitochondrial diseases?
- Genetic analysis (correct)
- Cytochrome oxidase (COX) staining
- Muscle biopsy
- Succinate dehydrogenase (SDH) staining
How are mitochondrial DNA length mutations (common deletion) best detected?
How are mitochondrial DNA length mutations (common deletion) best detected?
What can be the result of genetic analysis in some patients with high clinical suspicion?
What can be the result of genetic analysis in some patients with high clinical suspicion?
Which of the following is NOT a common cardiac feature of mitochondrial disorders?
Which of the following is NOT a common cardiac feature of mitochondrial disorders?
Which of the following laboratory studies is NOT typically performed for diagnosing mitochondrial disorders?
Which of the following laboratory studies is NOT typically performed for diagnosing mitochondrial disorders?
What is the significance of an elevated lactate to pyruvate ratio in diagnosing mitochondrial disorders?
What is the significance of an elevated lactate to pyruvate ratio in diagnosing mitochondrial disorders?
Which of the following is a common feature of mitochondrial dysfunction seen in muscle biopsy?
Which of the following is a common feature of mitochondrial dysfunction seen in muscle biopsy?
What is the importance of a detailed family history in diagnosing mitochondrial diseases?
What is the importance of a detailed family history in diagnosing mitochondrial diseases?