what are inherited metabolic disorders?
(from harmful gene mutations)
* There are hundreds of inherited metabolic disorders that disrupt brain development.
* “Errors of metabolism” are genetic disorders. Typically, an enzyme is not synthesized on account of recessive mutations in both copies of a gene.
what is Phenylketonuria (PKU)?
enzyme that is critical for development. converts the amino acid phenylalanine to tyrosine. without this enzyme, PKU will accumulate in the blood which isn’t good.
treatment: diet where you can’t eat any PKU.
Caused by the absence of the enzyme that converts the amino acid phenylalanine to tyrosine. A blood test is performed on all newborn babies to test for this condition. A special diet can be implemented at birth that prevents phenylalanine from accumulating and causing brain damage.
what is Tay-Sachs disease?
Caused by the absence of a lysosomal enzyme (Tay-Sachs) that breaks down cellular waste. The disease is fatal.
The accumulation of waste products in lysosomes causes brain cells to swell and eventually die.
what is down syndrome?
We have discovered certain toxins, viruses, and drugs that can disrupt fetal brain development. name a big one.
Alcohol use is particularly dangerous during pregnancy. Babies born to alcoholic women are typically smaller than average and develop more slowly. Alcohol consumption specifically during the 3rd and 4th week of pregnancy can cause fetal alcohol syndrome, which is associated with certain facial anomalies and severe intellectual disabilities.
what is fetal alcohol syndrome?
associated with certain facial anomalies and severe intellectual disabilities.
what is encephalitis?
General term for inflammation of the brain caused by infection (bacterial or viral), toxic chemicals, or allergic reaction. The first symptoms are headache, fever, and nausea.
what is meningitis?
General term for inflammation of the meninges caused by infection (viral or bacterial). The first symptoms are headache and stiff neck.
describe traumatic brain injuries (TBI).
Traumatic brain injuries (TBI) are a serious health problem
* Almost a third of deaths caused by injury involve TBI.
* A concussion is a closed head injury.
A penetrating wound is called an open-head injury.
* In both cases, scarring can form within the brain, increasing the person’s risk of developing seizures.
* Even mild TBIs greatly increase a person’s risk of developing brain problems down the road.
– For example, the likelihood of Alzheimer’s disease is much higher in a person who has received blows to the head earlier in life.
what creates a tumor?
When a cell in the body starts to divide uncontrollably, it creates a tumor – a mass of cells that serve no useful function and whose growth is uncontrolled.
describe non-cancerous tumors.
If a tumor has a distinct border and is naturally sealed off from the surrounding tissue (encapsulated), it is considered non-cancerous (benign). Surgeons can fully remove it.
describe cancerous tumor.
If a tumor does not have a distinct border, it is considered cancerous (malignant) because it infiltrates surrounding tissue and spreads to other parts of the body (metastasizes). Surgeons can never be sure they fully removed a malignant tumor.
true or false: Neurons do not divide, so they are rarely the source of tumors.
true
which cells can be the source of tumors?
cells that divide:
– glia cells, which cause gliomas
– cells of the meninges, which cause meningiomas
– blood vessel cells, which cause angiomas
– hormone-secreting cells in the pituitary, which cause adenomas
are meningiomas, angiomas and adenomas cancerous?
typically no, but they can damage the brain by compressing neurons and blocking the flow of cerebrospinal fluid, (causing hydrocephalus – water brain).
true or false: 33% of all brain tumors are malignant gliomas.
true, they proliferate rapidly and are more resistant to chemotherapy and radiation than most tumor cells.
what are meningiomas?
they arise from cells in the dura mater and arachnoid membrane (cells of the meninges). They are typically encapsulated and non cancerous, yet they still require treatment because they can compress neurons and cause hydrocephalus.
what are gliomas?
Gliomas arise from glia cells, and they are typically malignant. The survival rate from malignant gliomas is very low.
describe strokes.
Over decades of life, blood vessels narrow, stiffen, and become blocked due to a buildup of fatty deposits caused plaques.
* Reduced blood flow to the heart (heart disease) is the leading cause of death.
* Disruptions of blood flow to the brain (stroke) is the second leading cause of death.
The likelihood of having a stroke increases with age, and it is 1 to 2% per year by age 75.
Other risk factors include high blood pressure, smoking, diabetes, high cholesterol levels, obesity, physical inactivity, unhealthy diet, and alcohol intake.
what are ischemic strokes?
87% of strokes are ischemic – there is a blockage of a cerebral blood vessel.
what are hemorrhagic strokes?
13% of strokes are hemorrhagic – a cerebral blood vessel ruptures.
true or false: Depending on size of the affected blood vessel, the amount of brain damage can vary from negligible to massive.
true
what can help after a stroke?
what are the three ways to remove plaques or lots in blood vessels?
1) coil retriever
2) aspiration device
3) stent retriever
(access through femoral artery through a cut in the thigh)