-
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?
Thiamine (B1)
-
Riboflavin is used in what reactions? Which vitamin is Riboflavin?
- (B2).
- Dehydrogenase reactions involving FMN and FAD
-
Which vitamin is used by many dehydrogenases to make NAD and NADP?
Niacin (B3)
-
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.
- -3-methylcrotonyl-CoA-c.
-
What vitamin deficiency leads to megaloblastic anemia?
B12 AND Folate/Folic acid
-
What is an essential cofactor for nucleic acid synthesis?
Folic acid
-
Anemia associated with neurologic abnormalities is fairly specific for?
B12 deficiency
-
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?
methylmalonic acid
-
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?
Epstein-Barr virus
-
Spongiform encephalopathy is characteristic of what Ds? What does it look like histologically?
- CJD
- 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?
meningioma
-
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
|
|
