Path XIII Flashcards

1
Q

common molecular defect in autosomal dominant spinocerebellar ataxias

A

CAG triplet expansion

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2
Q

polyglutamine Q

A

HD or autosomal dominant spinocerebellar ataxia

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3
Q

phenomenon of anticipation

A

HD or autosomal dominant spinocerebellar ataxias

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4
Q

paternal transmission

A

HD or autosomal dominant spinocerebellar ataxias

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5
Q

core neuropathy in autosomal dominant spinocerebellar ataxias

A

cerebellar degeneration

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6
Q

demyelinating diseases

A

MS
neuromyelitis optica
progressive multifocal leukoencephalopathy
guillain barre syndrome

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7
Q

neuromyelitis optica

A

b/l painful optic neuritis and spinal cord demyelination
W>M
poor recovery

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8
Q

mutation in neuromyelitis optica

A

auto Ab aquaporin 4, water channel of astrocytes

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9
Q

how to monitor neuromyelitis optica disease

A

serum titers of auto Ab aquaporin4

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10
Q

Tx neuromyelitis optica

A

plasmaphoresis +/- anti CD20 Ab therapy

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11
Q

PML

A

lytic lesions of oligodendrocytes

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12
Q

PML shows up when

A

young age after primary infection

latent in kidneys and lymphoid tissues for life

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13
Q

most PML in what patients

A

AIDS
cancer
inflammatory disorders
organ transplant recipients

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14
Q

acute inflammatory demyelinating polyneuropathy

A

guillain barre syndrome

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15
Q

PML attacks what part of brain

A

cerebellum and pons

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16
Q

enlarged homogenous oligodendrocyte nucleus with inclusion

A

PML

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17
Q

MS

A

autoimmune demyelinating disease with remitting episodes neurologic loss
separate in time in areas of white matter separate in space

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18
Q

pathophys MS

A

TH1 TH17 lymphcytes react to myelin Ag

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19
Q

type HS in MS

A

type IV

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20
Q

Ig in MS

A

IgG oligoclonal bands in CSF

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21
Q

loss of myelin in MS lead to what

A

dec saltatory conduction, initial block then reorganization happens and have slower continuous propagation of signal

22
Q

histology of an active plaque of MS shows what

A

lipid laden macrophages

23
Q

inactive plaque in MS

A

loss of oligodendrocytes, astrocyte proliferation and gliosis causing grossly firm areas (sclerosis)

24
Q

geographic area where MS more present

A

northern latitudes

25
Q

type of genetic effect of MS

A

mildy genetic
7x more likely if sibling has it
polymorphic

26
Q

common lesions in MS

A

peri ventricular

27
Q

pale lesions on spinal cord in MS show what

A

demyelination

28
Q

MS axons

A

can recover from demyelination somewhat

29
Q

presentation MS

A
F3:M1
young adult
sensory loss, spinal cord motor and autonomic
optic neuritis
constitutional Sx
30
Q

signs MS

A

UMN signs

neurologic defects corresponding to conduction loss

31
Q

Dx MS

A

more than 1 attack, more than 1 lesion
imaging : MRI with plaques and edema, black holes of neuronal loss
CSF: IgG oligoclonal bands commonly present

32
Q

Tx for acute MS attacks

A

corticosteroids

33
Q

devics disease is

A

neuromyelitis optica

34
Q

neuromyelitis optica is reserved to what areas

A

restricted to optic nerves and spinal cord

35
Q

oligoclonal bands

A

in MS not NMO

36
Q

are there WBC in CSF of guillain barre and MS

A

no and no

37
Q

what disease, guillain barre or MS has increased protein

A

guillain barre

38
Q

type of syndrome central pontine myelinolysis

A

osmotic demyelination syndrome

39
Q

when does central pontine myelinolysis occur

A

hyponatremic patients with corrected rapidly and in patients with severe hyperosmolality no preceded by hyponatremia

40
Q

key triggering factor in central pontine myelinolysis

A

dysosmolar state where electrolyes and organic osmolytes move out of brain cells into extracell space

41
Q

what separates the chambers of anterior compartment of eye

A

the iris

42
Q

what separates the posterior and anterior compartments of eyes

A

lens

43
Q

most internal structure of eye

A

retina

44
Q

most external structure of eye

A

sclera

45
Q

what gives retinal aa branches

A

ophthalmic a

46
Q

retinal a occlusion can be caused by

A

atheromatous emboli from ipsilateral internal carotid stenosis
stenosis from HTN, diabetes
vasculitis- infarction of entire artery

47
Q

amaurosis fugax

A

RIA of retinal a

48
Q

what are signs of TIA of retinal a

A

browning out or loss of vision in one eye for around 10 minutes

49
Q

what causes TIA retinal a

A

ipsi internal carotid stenosis

50
Q

anterior ischemic optic neuropathy

A

short posterior ciliary aa that get occluded causes sudden vision loss in one eye

51
Q

onset of anteiror ischemic optic neuropathy occurs when

A

upon wakening

can be seen in termporal arteririts