Introduction Flashcards
1
Q
What did CRISPR allow for
A
made it possible to accuratelyately and efficiently edit the human germ line -
2
Q
Holoprosencephaly (HPE) is a
A
Disorder of the forebrain development, characterized by failure of the brain to separate into hemispheres during early development
3
Q
HPE has been reported in?
A
humans cattle sheep pigs monkeys dogs horses
4
Q
HPE factors
A
- diabetes mellitus in women recognized risk factor
- teratogens- Ethyl alcohol, retinoids acid, cigarette smoking, steroid alkaloids
- sheep- ingestion of steroid alkaloids cyclopamine
5
Q
Mechanism for action of HPE
A
interference with the response to sonic hedgehog (SHH) transcription factors important in ventral patterning of the neural plate
6
Q
Clinical signs of HPE
A
- hypernatremia and hyperchloremia
- electroylte abnormalities (increased thirst
- ADHD
- chewing gum fits (oral proprioceptive deficits)
- seizures