Test 68 Flashcards
Difficulty swallowing
blurred vision sudden onset
decreased compound muscle AP
c. Botulinum
3Ds:
diplopia
dysphagia
dysphonia
progressive neurodegeneration
cherry red macular spot
NO heptaosplenomeglay
Tay sachs
Tay sachs enzyme def
def in B hexosaminidase A> GM2 ganglioside accumulation
Angiokeratomas
cardiac and renal involvement
painful neuropathy
ceramide trihexosidase
alpha galactosidase (SAUCERS)
Mphages that look like crumped tissue paper
hepatsplenomegaly
pancytopenia
severe bone and joint pain
glucocerebroside
B glucocerebrosidase
Gargoylism
corneal clouding
hepatpslenomegaly
Dermatan and heparin sulfate
AL iduronidase
Hurler syndrome
Huler + NO cornelal clouding
iduronate sulfatase
HUNTER
Hepatosplenomegaly
cherry red spot on macula
foam cells
Sphingomyelin
sphingomyelinase
NP Disease
progressive neruodegeneration and optic atrophy
galactocerebroside accumulation
Krabbe
muscle wasting
dementia
ataxia
cerebroside sulfatide accumulation
Metachromatic leukodystrophy
cerebellar ataxia
loss of position/vibration sensation
kyphoscoliosis
hypertorphic cardiomyopathy
Friedrich ataxia
chrom 9= frataxin> needed for normal mito fxn
degeneration of SPINOCEREBELLAR TRACTS
Cerebral cortex atrophy
alzheimers
Pick dsiease
loss of neruons in AH of spinal cord
poliomyelitis
ALS
clusters of GRam + cocci
S. Aureus
VF that forms part of OUTER peptidoglycan layer of S. aureus and BINDS Fc portion of IgG Abs at complement binding site to prevent complement activation
Protein A
decreased opsonization and phagocytosis