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General neuro 0427Q Flashcards

1
Q

trisomy 21 prevalence

A

1 in 730 live births.
MOST FETUSES DIE IN UTERO.
most commonly caused by chromo nondisjunction during maternal meiosis 1.

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2
Q

Down syndrome screening

A

triple marker test
quadruple marker test
integrated test

verify with amniocentesis and chromo analysis of fetal cells

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3
Q

Down syndrome phenotype

A

flat facial features
excessive skin at nape of neck
slanted palpebral fissures
single transverse palmar crease

cardiac: AVSD, VSD
GI: duodenal atresia, Hirschsprung, TEF

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4
Q

distinguishing feature of Edwards syndrome

A

clenched hand with INDEX finger overriding middle finger, FIFTH FINGER overriding fourth finger

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5
Q

Patau syndrom

A 
cleft lip and palate
polydactyly
microcephaly
rocker bottom feet
umbilical hernia
cardiac and RENAL defect
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6
Q

stillborn fetus - Turner syndrome

A

edematous hands, feet
cystic hygroma of neck
coarctation of aorta

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7
Q

CMV in immunocompetent host

A

mostly subclinical infx.
MONONUCLEOSIS - fever, malaise, myalgia, atypical lymphocytosis, elevated LFT.

no heterophil Abs (monospot negative) (vs EBV)

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8
Q

CMV pneumonitis

A

after organ transplantation

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9
Q

vit A chronic overuse/toxicity

A

intracranial HTN: papilledema, pseudotumor cerebri

skin changes: alopecia, dry skin

hepatosplenomegaly, cirrhosis

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10
Q

vit A teratogenic effects

A

microcephaly
cardiac anomalies
fetal death (tri 1)

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11
Q

vit E overuse

A

higher mortality - hemorrhagic stroke in adults.

necrotizing enterocolitis in infants.

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12
Q

pernicious anemia - classic presentation

A

older, mentally slow northern European woman who is lemon colored (anemic, icteric) with a smooth shiny tongue (atrophic glossitis) and demonstrates shuffling broad-based gait

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13
Q

SSRI effect

A

takes 4 wks for noticeable therapeutic effect.
initial activating effects can lead to increased agitation and anxiety.

temporary course of BENZODIAZEPINE can help with anxiety-related sx (short-acting)

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14
Q

ALANINE

A

main AA responsible for transferring nitrogen to liver for disposal.

protein breakdown: amino groups transferred to ALPHA-KETOGLUTARATE to form glutamate [–> ammonia –> urea]. other product is pyruvate.

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15
Q

hydrocephalus in INFANTS

A

present with irritability, poor feeding, increased head circumference, enlarged ventricles on CT.

long term sequelae: lower extremity spasticity (stretching of periventricular pyramidal tracts - muscle hypertonicity, hyperreflexia). visual disturbances. learning disabilities.

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16
Q

cause of hydrocephalus in infants

A 
congenital (arnold chiari type II)
hereditary aqueductal stenosis
prenatal infx (toxoplasmosis)
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17
Q

neonatal intraventricular hemorrhage

A

common complication of prematurity.

occurs in fragile germinal matrix.

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18
Q

HIV polyprotein

A

encoded by structural genes (gag, pol, env).

env is glycosylated to gp160, proteolytically cleaved in ER and Golgi to form envelope gp120 and gp41 to aid virion absorption by target cells

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19
Q

gp41

A

transmembrane anchor for gp120, which mediates viral absorption by binding CD4 receptor on susceptible host cells

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20
Q

delusional disorder

A

one non-bizarre delusion but do not meet criteria for schizophrenia. can function w/o significant impairment to daily life.

*non-bizarre = situations that are unlikely but possible (being followed, cheated, poisoned)

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21
Q

staph epidermidis

A

common cause of FOREIGN BODY infx due to ability to produce BIOFILMS - foreign body coated in host proteins (fibrinogen, fibronectin), can then bind organism, which makes EC polysaccharide matrix to surround it.

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22
Q

avoidant personality disorder

A

maladaptive pattern of behavior - feelings of inadequacy, timidity, fear of rejection

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23
Q

TURNER baby

A

most prominent finding = lymphedema of hands and feet. also responsible for webbed neck and low posterior hair line.

abn nuchal lymphogenesis causes SQ nuchal edema and cystic hygroma in utero.

may have hydrops fetalis.

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24
Q

congenital toxoplasmosis

A

transplacental infx - acquired in utero.

TRIAD

  1. hydrocephalus (enlarged ventricles)
  2. intracranial calcifications
  3. chorioretinitis (cotton like white/yellow scars on retina)
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25
alcohol withdrawal - 1st sx
tremulousness others: GI, agitation, anxiety, autonomic disturbance (increase HR, RR, temp) delirium tremens between 48-72 hrs after last drink
26
what receptors are downregulated with long term ethanol use?
GABA-A * NMDA-R upregulated * increase synthesis of excitatory mediators (NE, DA, 5HT)
27
loss of sensation - ulnar n. injury
medial 1.5 digits of hand
28
trochlear nerve palsy
characterized by vertical diplopia | CN IV
29
VZV infx of dorsal root ganglia
reactivation that results in painful vesicular skin eruption along SENSORY DERMATOMES (shingles - commonly in thoracic and trigeminal regions)
30
latent HSV-2
dsDNA virus infx of sacral sensory ganglia resulting in recurrent painful genital rash secondary to reactivation
31
reaction formation
person replaces UNPLEASANT or UNACCEPTABLE thought/desire with an EMPHASIS on the opposite vs. altruism - mature, conscious mech to help others with the same problem w/o intention of covering up personal desire
32
most common cause of aseptic meningitis
enteroviruses - coxsackie, echo, entero, polio *aseptic = lymphocytic CSF pleocytosis, modest prot elevation, other NORMAL parameters - usually VIRAL
33
Neimann-Pick
sphingomyelinase deficiency. ceramide phospholipid SPHINGOMYELIN accumulates. foamy histiocytes. neuro deterioration w/in yr 1. massive hepatosplenomegaly. deposits in retina = blindness (cherry red macula similar to Tay Sachs)
34
metachromatic leukodystrophy enzyme deficiency
arylsulfatase A. | sulfatides accumulate w/in tissue.
35
Tay Sachs enzyme deficiency
beta hexosaminidase A. | Gm2 ganglioside accumulates in neurons.
36
Fabry disease | enzyme deficiency
alpha galactosidase A. ceramide trihexoside accumulates in tissue. X-linked.
37
human sialidosis | enzyme deficiency
neuraminidase (sialidase). | is also the surface enzyme of influenza virus.
38
Farber disease | enzyme deficiency
ceramidase. | ceramide accumulates w/in neurons and granulomas in skin.
39
acute mania tx
mood stabilizing agent (lithium, valproate, carbamazepine) PLUS atypical antipsychotic (olanzapine)
40
meds that precipitate manic episodes
SSRI, bupropion
41
liquefactive necrosis following hypoxic CNS injury
complete lysosomal digestion and removal of necrotic tissue with formation of cystic cavity.
42
hemorrhagic infarcts
blood extravasation into necrotic areas. often occurs in organs with DUAL bld supply (lung - pulmo and bronchial aa.) in CNS - due to reperfusion injury
43
architecture of necrotic tissue is preserved in...?
coagulative necrosis
44
methadone as DOC for heroin addiction/abuse
very potent mu receptor agonist. LONG-ACTING opiate. good oral bioavailability. long half life allows for prolonged effects to suppress withdrawal sx.
45
neurofibromas
multiple SMALL cutaneous lesions (look like skin tags) distributed all over body. NF1: AD with high penetrance. cafe au lait spots (hyperpigmented). Lisch nodules (asymptomatic hamartomas of iris). also.... optic nerve gliomas (vision loss). bony abn (sphenoid dysplasia, congenital pseudoarthrosis, scoliosis). meningioma, glioma, pheochromocytoma.
46
cricothyrotomy
when emergency airway is needed; oro or nasotracheal intubation can't be done. incision passes through: 1. skin 2. superficial cervical fascia (including SQ fat, platysma muscle) 3. investing and pretracheal fascia of deep cervical fascia 4. cricothyroid membrane (BELOW thyroid cartilage)
47
PKU biochemical cause
deficient phenylalanine hydroxylase OR cofactor tetrahydrobiopterin (BH4) * dihydropteridine reductase needed to regenerate BH4 from BH2 * any of these 3 steps can result hyperphenylalaninemia
48
brain component involved in PKU
hypopigmentation of basal ganglia. | ex: substantia nigra, locus ceruleus, vagal nucleus dorsalis
49
albinism enzyme
depressed or absent TYROSINASE tyrosine --[tyrosinase]---> melanin
50
PKU manifestation
homozygous infant normal at birth but MR gradually develops in untreated baby - evident by 6 mos
51
muscarinic effect in endo cells
cholinergic agonists bind muscarinic receptors on endo cells, promote release of NO (endothelial-derived relaxation factor, EDRF) - activate guanylyl cyclase, diminish endo calcium conc = VASODILATION (smooth muscle relaxation) PARASYMPATHETIC
52
cholinergic effect on smooth muscle
increase tone (stimulate contraction) GI: increase motility and secretion. salivation, sweating, lacrimation. bladder (detrusor): urination PARASYMPATHETIC
53
cholinergic negative inotropy
decreased contractility due to decreased Ca current in cardiac myocytes. more pronounced effect in atria (ventricles have more adrenergic innervation). *similar effect on chronotropy - decrease Ca currents in SA and AV nodes to decrease conduction velocity (may reach heart block)
54
sedative effect of allergy meds
1G H1-histamine receptor antagonists (diphenhydramine, chlorpheniramine, promethazine, hydroxyzine) - should not be used with BENZOS!!! penetrate BBB and accumulate in CNS
55
malignant otitis externa
most common cause: Pseudomonas serious infx in elderly diabetic pts. severe ear pain, drainage. granulation tissue often seen in ear canal. can progress to osteomyelitis of skull base w/cranial nerve damage.
56
pseudomonas characteristics
nonlactose fermenting motile oxidase positive gram neg rod
57
chemoprophylaxis of meningococcal meningitis
RIFAMPIN prescribed to ALL close contacts of pt w/active disease w/in 2 wks of dx. penetrates resp tract - eliminates nasopharyngeal colonization. *vaccine is given to at-risk groups (college freshmen) BEFORE exposure
58
rifampin side effects
ORANGE discoloration of secretions - urine, tears, breast milk). "amp"-lifies P450 - increase metab of warfarin and other drugs
59
TREATMENT of meningococcal meningitis
penicillin
60
orotic aciduria
impaired de novo pyrimidine synthesis. (orotate to UMP) tx: uridine supp (uridine converted to UMP, which can inhibit CPS II)
61
orotic aciduria presentation
hypochromic megaloblastic anemia. neuro abn. growth retardation. orotic acid in urine.
62
atypical (malignant) PKU
deficiency of dihydrobiopterin reductase (BH2 to BH4 conversion). affects: Phe to Tyr (phenylalanine hydroxylase) and Tyr to DOPA (tyrosine hydroxylase) *lack of dopamine disinhibits PRL
63
atypical PKU with tyrosine supplementation
only catecholamine synth rxns DOWNSTREAM from tyrosine are compromised (includes low dopamine levels)
64
fever + pharyngitis + lymphadenopathy in young adult
infectious mononucleosis - ATYPICAL LYMPHOCYTES (irreg border, abundant cytoplasm, multiple nucleoli) on peripheral smear
65
EBV malignancies
increased incidence of Hodgkin and non-Hodgkin (Burkitt) lymphoma, nasopharyngeal carcinoma
66
gingivostomatitis + fever + lymphadenopathy in child (age 1-3)
primary HSV1 infx - intranuclear inclusions are characteristic (enveloped dsDNA)
67
cocaine abuse
NASAL FINDINGS- mucosal atrophy, partial septum destruction. sx: increase BP, chest pain (coronary a. vasoconstriction), agitation (CNS activation), mydriasis but responsive to light blocks NT reuptake in adrenergic sx (same moa as TCA)
68
subacute combined degeneration
myelopathy assoc. w/B12 deficiency. ascending dorsal column and descending corticospinal tracts. abn myelin synthesis (vacuolization, axonal degen).
69
axonal degeneration of PERIPHERAL nerves
numbness, paresthesias
70
lead poisoning - enzymes
1. delta-aminolevulinate dehydratase 2. ferrochelatase delta-ALA and protoporphyrin IX accumulate. production of heme decreases.
71
conditions assoc. with Down
acute leuk: AML, ALL CHD: endocardial cushion defects, VSD, ASD GI: duodenal atresia, Hirschsprung
72
MPTP-induced damage of dopaminergic neurons
toxic metabolite of MPTP produced by MAO type B - prevent with SELEGILINE (used to delay progression of Parkinson)
73
parkinson first line tx
combo of selegiline, anticholinergics, amantadine UNTIL they no longer control sx -- THEN, use levodopa+carbidopa
74
early changes in Alzheimer
slow memory loss. language deficits (word-finding difficulties). impaired visuospatial ability (misplacement of items). trouble with everyday fxs comes later.
75
brain atrophy in Alzheimer
most pronounced in temporoparietal lobes and HIPPOCAMPUS
76
motion sickness
antimuscarinic agents (M1) - scopolamine. antihistamines block H1 receptor activity by increasing the proportion of inactive H1 receptors (reverse blockade) - also have antimuscarinic, adrenergic, and serotonergic properties. specifically: meclizine, dimenhydrate.
77
antimuscarinic side effects
``` blurry vision dry mouth palpitations urinary retention constipation ```
78
PCP (phencyclidine)
hallucinogen - inhibits excitatory NMDA receptor. moderate amts cause feelings of detachment/distance. slurred speech, loss of coordination, involuntary mvmt, exaggerated gait, nystagmus. can induce paranoia and hallucinations. users become hostile, aggressive - can't distinguish from schizophrenia
79
glutamate
excitatory NT that acts at NMDA receptor
80
TCA-assoc. cardiac problems
hypertonic SODIUM BICARBONATE. TCA can have QUINIDINE-like effect on conduction system (QRS and QT prolongation, cardiac dysrrhythmias - due to inhibition of fast Na channels)
81
pain in temporal (giant cell) arteritis
jaw pain that starts in the middle of meal - art. lumen narrows and can't respond to increased bld requirement. may also have tongue pain (tongue claudication). MOST COMMON SX is headache. scalp tenderness. polymyalgia rheumatica (muscle pain, morning stiffness) 50%
82
blindness in temporal (giant cell) arteritis
painless monocular may be permanent
83
dx of temporal (giant cell) arteritis
ESR - usu. > 100 mm/hr biopsy of temporal a. is DEFINITIVE. start corticosteroid tx ASAP to prevent vision loss.
84
rhabdovirus
RABIES - ssRNA virus enveloped in bullet-shaped capsule studded with glycoprotein spikes that bind NICOTINIC ACH RECEPTORS. virus bind ACh receptors on peripheral nerve axons and travel retrograde to CNS.
85
rabies encephalitis
``` agitation disorientation photophobia hypersalivation (mouth foaming) pharyngospasm (painful swallowing, breathing) - may cause dysphagia and avoidance of food, water leading to coma, death. ```
86
atropine side effect
increased intraocular pressure - precipitate acute closed-angle glaucoma in susceptible pts
87
atropine cardiac use
block vagal influence on SA and AV node (increase HR in bradycardic pts)
88
acute closed-angle glaucoma presents as....?
unilateral severe eye pain and visual disturbances (halo) at risk: inuits and asians
89
inferior MI
often due to block of right coronary artery - responsible for SA and AV node perfusion so BRADYCARDIA is often involved
90
gingival hyperplasia with phenytoin
drug causes increased PDGF expression. gingival macrophages exposed to increased PDGF will stimulate proliferation of gingival cells and alveolar bone other tox: mainly cerebellar and vestibular system (ataxia and nystagmus)
91
phenytoin and folic acid
drug interferes with metabolism of folic acid - cause megaloblastic anemia
92
cystic hygroma
``` (Turner syndrome, esp at birth) tumor on neck/posterior triangle. cystic spaces separated by CT rich in lymphoid aggregates. due to abn lymphatic outflow. swelling decreases w/age. ```
93
primary amenorrhea in Turner
due to ovarian underdevelopment (streak ovaries). fail to develop secondary sex characteristics.
94
Bell's palsy = unilateral facial paralysis plus...?
decreased tearing hyperacusis and/or loss of taste sensation over ant 2/3 tongue
95
specific findings of Bells palsy
``` sudden onset impaired eye closure eyebrow sagging inability to smile/frown on affected side disappearance of nasolabial fold mouth drawn to nonaffected side ```
96
freidreich ataxia neuro involvement
ascending and descending spinocerebellar tract degeneration (gait ataxia) dorsal column and dorsal root ganglia degeneration (lose position and vibration sense)
97
cardiac embolism to brain
causes multiple infarcts within diff vascular territories
98
hypertensive encephalopathy
HA, vomiting, confusion may lead to coma, death if death, brain edema and petechial hemorrhages seen in autopsy
99
tabes dorsalis
part of neurosyphilis affects dorsal columns and dorsal roots loss of position, vibration, pain sensation
100
JC virus
polyomavirus - PML in severely immunocompromised pts
101
typical meningioma location
adjacent to falx cerebri, compressing medial surface of hemisphere (parasagittal region)
102
candida oral thrush
white patches on oral mucosa pseudomembranous can be scraped off KOH prep for yeast and pseudohyphae assoc. with dentures, DM, immunosuppression
103
ubiquitin-proteasome system in neurodegenerative d/o
ubiquitin undergoes ATP-dependent attachment to other prots to mark them for degradation. impairment of system can contribute to parkinson, alzheimer - protein misfolding, aggregation, obstruction of molecular trafficking
104
carbidopa
reduce most peripheral side effects of levodopa BUT behav changes can worsen bc more dopamine becomes available to brain (anxiety, agitation)
105
adrenergic regulation of insulin
alpha receptors inhibit insulin secretion. beta receptors stimulate insulin secretion. pretreatment with alpha blocker results in predominance of beta effects (ex: with epinephrine)

Neuro (15 decks)

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