B3 path 12 Flashcards

8684074124	neuronal ceroid lipofuscinoses	group of inherited storage disorders of the brain and retina with mostly autosomal recessive inheritance	0
8684077913	retinopathy with vision loss epilepsy dementia	3 common features of neuronal ceroid lipofuscinoses	1
8684079991	CLN1-CLN10	types of neuronal ceroid lipofuscinoses	2
8684081746	CLN1: palmitoyl protein thioesterase I CLN2: lysosomal tripeptide peptidase I	deficient lysosomal enzymes associated with 2 NCL disorders	3
8684086350	4 yr	when does death occur in CLN1	4
8684087689	12	when does death occur in CLN2	5
8684087910	third decade	when does death occur in CLN3	6
8684089066	fourth decade	when does death occur in CLN4	7
8684090081	intracellular accumulation of autofluorescent material (yellow with UV light)	NCL disorders are characterized histopathologically by	8
8684096612	subunit c of mitochondrial ATP synthase sphingolipid activator proteins	2 most important components of NCL lipopigments	9
8684100041	Krabbe disease -cytotoxic compound causing oligodendrocyte injury	AR leukodystrophy resulting from a galactocerebroside beta-galactosidase -end result	10
8684103734	stiffness, weakness, difficulties feeding	3 clinical symptoms of Krabbe disease	11
8684104513	globoid cells	microscopic finding of Krabbe disease	12
8684105735	metachromatic leukodystrophy	AR progressive storage disorder of myelin-producing cells caused by a deficiency of the lysosomal enzyme arylsulfatase A	13
8684108594	infantile metachromatic leukodystrophy	ataxia, dysarthria, dysphagia, vision/hearing abnormalities	14
8684110396	adult metachromatic leukodystrophy	behavior changes, inappropriate behavior, emotional liability, dementia	15
8684112101	toluidine blue stain of macs	metachromatic leukodystrophy: metachromatic material appears on	16
8684115925	adrenoleukodystrophy -myelin of brain, adrenal cortex, Leydig cells in testes	disorder of fatty acid beta oxidation in peroxisomes which results in the accumulation of very long chain fatty acids in tissues throughout the body -most severely affected tissues	17
8684120981	ABCD1	gene mutation of adrenoleukodystrophy	18
8684122354	males only	common pt of adrenoleukodystrophy	19
8684123218	emotional instability	intial symptom of adrenoleukodystrophy	20
8684125010	visual disturbances, spatial disorientation, poor coordination, seizures	later symptoms (4) of adrenoleukodystrophy	21
8684127967	-demyelination with loss of oligodendrocytes -perivascular lymphocyte cuffing -lipophage accumulation	3 histopathologic findings of adrenoleukodystrophy	22
8684131142	mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)	defined by recurrent periods of acute neurologic dysfunction, cognitive changes, muscle weakness, lactic acidosis	23
8684133156	tRNA	most common mutation associated with MELAS	24
8684134640	myoclonic epilepsy with ragged red fibers (MERRF)	maternally transmitted disease with seizure disorders, myoclonus and features of myopathy	25
8684136500	Leigh syndrome	lactic academia, psychomotor development arrest, feeding abnormalities, seizure disorders, weakness and hypotonia	26
8684141305	symmetrical regions of brain destruction spongiform appearance	pathological features of Leigh syndrome (2)	27
8684143433	beriberi	thiamine deficiency results in	28
8684144475	Korsakoff's syndrome	characterized clinically by memory disturbances and confabulation	29
8684146223	Wernicke's encephalopathy	characterized by hemorrhage and necrosis in the mamillary bodies in the walls of the 3rd and 4th ventricles	30
8684148440	subacute combined degeneration of SC -pernicious anemia	degeneration of posterior and lateral columns of the SC as a result of vitamin B12 deficiency -usually associated with	31
8684151421	parietal cells in stomach	pernicious anemia targets	32
8684153226	numbness and tingling in extremities--spastic weakness of lower extremity	symptom of vitamin B12 deficiency	33
8684156146	pyramidal neurons of cerebral cortex -cortical pseudolaminar necrosis	lower glucose levels in brain result in selective injury to -if severe	34
8684159204	hyperglycemia -coma	most commonly associated in uncontrolled or poorly controlled pt with diabetes mellitus and associated with ketoacidosis and hyperosmolar coma -affected pt ultimately develop	35
8684162678	hypoxia: CO interferes with O2 carrying ability of hemoglobin	brain injury in acute CO exposure is result of	36
8684165107	bilateral necrosis of globus pallidus	finding that correlates with carbon monoxide more than other forms of hypoxia	37
8684166006	retina	methanol toxicity affects	38
8684169346	atrophy and loss of granule layer in anterior cerebellar vermis	histological appearance of ethanol poisoning of brain for chronic alcoholics	39
8684170613	Bergmann gliosis	loss of Purkinje cells and proliferation of adjacent astrocytes between the granular and molecular layers of the cerebellum in advanced cases of chronic alcohol abuse	40
8684173628	coma	CNS: high doses of radiation can lead to	41
8684174175	white matter	area of CNS affected by radiation induced injury	42