Lecture 23 Flashcards

1
Q

Disorders of development (toxins)

A

Doxins during gestation have impacts on kids

Organophosphates and heavy metals

Alcohol
Cigarettes

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2
Q

Fetal alcohol syndrome

A

Alcohol consumption heavily in the 3rd and 4th week of pregnancy

Facial anomalies and cognitive disabilities

Alcohol consumption outside of this window is also damaging in proportion to the amount of alcohol consumed

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3
Q

Inherited metabolic disorders

A

Errors of metabolism caused by a defect in protein. Often an enzyme is not made as a result

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4
Q

Phenylketonuria (PKU)

A

Absence of enzyme that converts phenylanine to tyrosine
phenylanine accumulates and causes brain damage

restrictive diet which excludes all of this can stop it

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5
Q

Tay-Sachs disease

A

Heritable

Was common in southern QC for hundreds of years

Lack of enzymes in lysosomes causes accumulation of waste large lysosomes, cell death and swelling of brain

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6
Q

Downs syndrome

A

Extra 21st chromosome

Congenital - not always hereditary (though the kid of downs has 50% shot)
usually an error in meiosis

Moderate to serious intellectual disabilities. Mixed because you do not know what genes will be inactivated

At age 30 - degenerates like Alzheimer’s sufferer

Alz can be coded fror by genes on 21 chrom. As it has more 21 chrom = more disease.

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7
Q

Encephalitis and Menigitis

A

Encephalitis is inflammation of the brain by infection, toxic chemicals or allergy
Headache, fever and nausea

Meningitis - inflammation of meninges caused by fever and nausea
Headache and stiff neck

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8
Q

Polio

A
Acute anterior poliomyelitis
Viral disease that destroys motor neurons of the brain and spine
Makes copies of itself in motor neurons 
They die
1% get it into the brain
10% of these are paralyzed
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9
Q

Rabies

A

Fatal viral disease
Retrograde virus
Time left to give vaccine varies by where bitten as it must travel up the nerves to the brain

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10
Q

Herpes simples

A

Rarely, enters brain and causes encephalitis

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11
Q

Multiple Sclerosis

A

Autoimmune
Has some gene factors but often sporadic
Demyelinates
LEaves hard patches, sclerotic plaques
Normal transmission interrupted as channels only exist on nodes of R and so AP is not propagated properly
Many symptoms as widespread and hetrogeneous

Usually remitting-relapsing

Interfearon beta modulates immune response
Glatiramer acetate mimics myelin so is a decoy
Dont work well

More common father from the equator so probably a disease common there contributes

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12
Q

Athelrosclerosis

A

Linings of arteries develop plaque of dats and waste products

Risk factors high BP, cigarettes, diabetes, high cholesterol

Precursor to MI and strokes

Common in interior carotid artery

Can be seen on angiogram

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13
Q

Stroke types

A

Hemorrhagic
Rupture of a cerebral blood vessel

Ischemic
Occlusion
87%

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14
Q

Strokes Thrombus/embolus

A

Thrombus is a clot that forms in a blood vessel and may block it
Embolus breaks off and imbeds itself later in blood vessel - in brain = stroke

Can be negligible or massive depending on size and location

Can cause perm brain damage but with therapy can produce large improvements

Anti clot stuff can work like tPA (tissue plasminogen activator) if its 3-4 hours after stroke

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15
Q

Tumors

A

Non malignant - benign
Distinct border, cannot metastasize

Malignant, no clear border can move

Often depends on whether it is encapsulated or not. If so, sugeon can often remove it

If it infiltratesm much hardewr.

If surgeon misses a cell, comes back

In brain - compression and infiltration
Compression can directly destroy brain or block CSF causing hydrocephalus

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16
Q

Gliomas

A

Malignant

Glial cells

Very low survival

17
Q

Meningioma

A

Non malignant

Often between hemispheres

Meningeal cells

Not necessarily benign if you do not go to doctor and people put it off cos its slow and they assume ok

18
Q

Degenerative disease basics

A

Caused by apoptosis due to build up of some form of protein

19
Q

Prions

A

Malformed proteins, edit other malformed proteins into them and then aggregate

Transmissible spongiform encephalopathy
Includes mad cow

Gives spongy appearance to brain

Prion accumulation causes this

Prions are the only infective agents that are just a protein

20
Q

Huntington’s

A

1 in 10000

Dominant

30-50 years old

Excess movement, dementia, death

Caused by a build up of protein hungtingtin

Has over 39 glutamines

As generation persist, this chain gets longer so spontaneously reemerges.

Enzyme attaches and slips off, reattaches at wrong place

Makes hungtingtin protein

Heavily expressed in basal ganglia

Antisense DNA administered in spinal canal intrathecally
binds to huntingtin rna and stops translation

Clumps up and kills cells

Antisense gene therapy might work

21
Q

Parkinson’s

A

1%

over 60

Shaking, dementia

Part gene part environment, mostly unknown

Alpha-synuclein is expressed in dopamine and clumps together. With time, causes these cells to die

Aggregates are called Lewy bodies

Mutation that causes this can be dominant

When proteins form wrong, the protein Parkin adds an Ubiquitin to them. Ubiquitinated proteins are destroyed by proteasomes. If parkin is inactive, does not happen. This causes alpha-synuclein to accumulate

22
Q

Parkinson’s gain/loss of fx

Hunti parki

A

Toxic gain of fx

Dominant

Mutations in huntingtin or alpha-synuclein gene

cause Huntington’s and Parkinson’s

LOSS of fx

Recessive

Parkin does not work

Parkinson’s

23
Q

Parkinson’s treatment

A

While there are still dopaminergic neurons left

Give L dopa to increase their output

When this fails, implant electrodes and do high f deep brain stimulation DBS

Target subthalamic nucleus, initially 130hs

Shuts it off and movement issues go away

Eventually the system adapts and stops working so you have to increase simulation frequency

Patients can control by remote

Better than old way of lesioning Globus pallidus or subthalamic nucleus as reversible