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What four conditions are associated with Down Syndrome
- 1 - Alzheimers
- 2 - Acute leukemias (AML, ALL)
- 3 - Congenital Heart Ds (endocardial cushion defects, VSD, ASD)
- 4 - GI defects (duodenal atresia adn Hirschsprung Ds
eosinophilic, intracytoplasmic inclusions are found in what disease of the brain?
These are Pick Bodies found in Pick Ds (frontal-temporal dementia?)
round, eosinophilic, intracytoplasmic inclusions wiht neurofilaments are characteristic of what Ds in brain? Where are they seen?
Found in the Substantia Nigra in Parkinson's Ds. Called Lewy bodies
What do Negri bodies look like? hat Ds are they associated with? Where in the brain?
- -round, eosinophilic inclusions (like Lewy)
- -in pyramidal neurons of hippocampus and cerebella Purkinje cells
- -Rabies infection
What are Psammoma bodies?
-laminar calcifications found in a number of tumors (meningiomas, papillary thyroid carcinomas, etc.)
(look like onions! "Gimme psa mo' onions!"
Which vitamin is a cofactor for transketolase, alpha-ketoglutarate dyhydrogenase and pyruvate dehydrogenase?
Riboflavin is used in what reactions? Which vitamin is Riboflavin?
- Dehydrogenase reactions involving FMN and FAD
Which vitamin is used by many dehydrogenases to make NAD and NADP?
Which vitamin deficiency is known as Pellagra? What is Pellagra classically associated with?
- Niacin (B3)
- 4Ds: diarrhea, dermatitis, dementia, diarrhea, death.
Which reactions do you need Pyridoxine?
(B6): decarboxylation of AAs and for gluconeogenesis (among others)
What is Biotin? Which enzymes is it a cofactor for?
- Water-soluble vitamin
- (all 4 carboxylase enzymes):
- -pyruvate c.
- -acetyl coA c.
- -propionyl CoA c.
What vitamin deficiency leads to megaloblastic anemia?
B12 AND Folate/Folic acid
What is an essential cofactor for nucleic acid synthesis?
Anemia associated with neurologic abnormalities is fairly specific for?
What neurologic abnormalities are found in vitamin b12 deficiency?
subacute, combined degeneration of posterior and lateral spinal columns
Serum level of what substance is diagnostic of vitamin b12 deficiency?
Paralysis of upward gaze is characteristic of what syndrome?
Parinaud syndrome (aka dorsal midbrain syndrome) of the Pineal gland
What triad of symptoms are associated with pineal germinomas?
- 1 - Precocious puberty (if B-hCG
- 2 - Aqueductal compression (-->hydrocephalus)
- 3 - Parinaud syndrome --> paralysis of upward gaze and convergence
What should you associated with Primary CNS lymphomas?
Spongiform encephalopathy is characteristic of what Ds? What does it look like histologically?
- vacuoles form in cytoplasm of eutrophils and neurons, eventually transforming into cysts
Jaw pain starting the middle of a meal is characteristic of what?
-What serum marker is uniformly elevated?
- Temporal Arteritis?
- ESR is raised
Among CNS tumors, what do psammoma bodies indicate?
What is an acoustic neuroma and where is it commonly located?
Intracranial schwannomas, often found at cerebellopontine angle.
What CNs can be affected by acoustic neuromas?
What does it suggest if they are bilateral?
- V, VII, VIII
- bilaterally is associated with NF type 2