E5 Flashcards
How does Rett differ from autism?
Rett: universal regression
What is required for autism diagnosis?
Persistent deficits in social interaction across multiple contexts
- -Social-emotional reciprocity
- -Nonverbal communication
- -Developing, maintaining, and understanding relationships
Restricted, repetitive patterns of behavior/interests/activities
What are the four core features of Rett syndrome?
Psychomotor REGRESSION --Language --Hand use Stereotypic movements (hand washing, wringing, squeezing, clapping, tapping, etc) Gait dysfunction
What is the genetic mechanism of Angelman syndrome?
Loss of UBE3A, normally maternally inherited
What is the genetic inheritance of Fragile X?
X-linked dominant
What causes exophthalmos in Graves’ disease?
Accumulation of extracellular matrix proteins, inflammation, and fibrosis
What is caused by tears in bridging veins?
Subdural hematoma
What is the most common intraocular malignancy in adults?
Metastatic carcinoma
What is the most common primary intraocular malignancy in adults?
Uveal melanoma
Where does uveal melanoma typically metastasize to?
Liver
Where does uveal melanoma typically metastasize to?
Liver
Diffuse acute focal suppurative CNS infections can lead to…
Cerebral abscess
How is viral meningo-encephalitis diagnosed?
Increased protein
Normal glucose
Lymphocytes and macrophages in perivascular Virchow-Robbins spaces
Bitemporal encephalitis is ____ until proven otherwise
Herpes simplex
PML is caused by…
JC virus
PML affects what type of patient and what type of cell?
Immunocompromised / oligodendrocytes
What is the main feature of PML?
Demyelination
Histological appearance of HIV encephalitis
Perivascular giant cells in white matter
Protein conformation change in prion diseases
PrP-C to PrP-SC
What are the four ways in which guidance cues can direct connectivity?
- Graded axon guidance cues
- Homophilic adhesion cues
- Axon-axon recognition cues
- Sub-cellular adhesion cues
How are axons guided in the eye?
- Axons are directed to the optic disc (repulsed from periphery of retina, attraction to optic disc)
- Axons are then guided to the optic chiasm, where temporal axons are sent ipsilaterally, and nasal axons are sent contralaterally
- These axons reach the tectum, where a gradient exists to send axons to the proper location
What is a critical period?
Specific time in development in which activity/physiology influences responsiveness
In what order to critical periods open during development?
Vision/sensory –> language/higher function
T/F: Critical periods for language and higher cognition diminish, but don’t ever close
True