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270 Cards in this Set
- Front
- Back
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Presentation: Onset: 70-90 yrs Slowly progressive decline in memory & orientation Daily activities of living affected Memory impairment spread to language/visuospatial defects Duration: 8-10 yrs Family pattern Neuritic plaques containing beta amyloid, diffuse atrophy of cerebral cortex w/ ventriculomegaly, sulcul enlargement, and hippocampal atrophy |
Alzheimer's disease |
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Which chromosomes are affected by mutations causing Alzheimer's disease? |
1, 14, 21
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Most common cause of dementia |
Alzheimer's disease
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What is the result of mutation on chromosome 21 for Alzheimer's?1 & 14?
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21: abnormal b amyloid protein1 & 14: presenilin proteins
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where is neuronal loss seen in Alzheimer's? |
Hippocampus, etorhinal cortex, and association areas of neocortex
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What are neurofibrillary tangles? what are these seen in?
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hyper-phosphorylated tau proteins in AD
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Key pathology features of what disease: diffuse atrophy of cerebral cortex, ventriculomegaly, sulcul widening, hippocampal atrophy
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AD
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Amyloid beta in neuritic plaques is seen in what disease?
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AD
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In AD, which two cortices are most atrophied in the cerebral cortex?
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parietal and frontal
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which gene encodes amyloid precursor protein?
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beta amyloid gene |
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in AD, what accumulates around arterial walls intracerebrally?
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Ab amyloid protein |
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What is the treatment for AD?
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Anti-oxidant Anti-inflammatory drugs W/ seizures anti-convulsant W/depression: SSRIs Cholinesterase inhibitors |
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Definition of Parkinsonism (its hallmark)
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slowly progressive neurodegeneration of substantia nigra & nigrostriatial fibers of basal ganglia |
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Other names of Parkinson's
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PD, shaking palsy, paralysis agitans |
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Epidemiology of Parkinson's -what is the age of onset? -it is the ____ most common ______________ disease - is the most common ________ neurodegenerative disease |
onset: 45-65 yo 2nd most common neurodegenerative disease most common familial neurodegenerative disease Over 65 yo |
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Risk factors of PD |
-(+) family hx -ingestion of pesticides & well water-head injury -male -rural living |
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Pathology of PD: what CNS structures are being affected & what is occurring to those structures? |
Mild atrophy of frontal lobesLoss of dopaminergic neurons in substantia nigra Dopaminergic neurons left in SN have Lewy bodies Lewy bodies contain a-synuclein (involved in SNARE complex; a chaperone protein unique to brain) Oxidative stress = key factor in loss of neurons |
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In PD: what are present in dopaminergic neurons that are left in the substantia nigra?
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Lewy bodies |
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What is the function of a-synuclein?
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Act as chaperone protein unique in brain; involved in SNARE complex
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what is the frequency of tremors in Parkinson's?
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4-6 Hz
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what are the cardinal manifestations of PD?
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-Tremor (4-6 Hz)-Rigidity (cogwheel & lead pipe)-Bradykinesia
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Clinical temporal profile and distribution of PD
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slow progressive/insidious onsetinitially: unilateral then bilateral
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What symptoms accompanies the onset of PD?
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muscle weakness, fatigue, incoordination, aching pain, discomfort
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Motor manifestations of PD |
- Masked facies -Decreased blink reflex -Stooped posture -Shuffling/festinating gait -Decreased associated movements w/ gait -Embarrassment of posture |
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what is a festinating gait?
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when u walk, ur trunk is flexed, your knees and hips are also flexed, and u take small steps and u move progressively faster |
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what are the non-motor manifestations of PD? |
-Depression/anxiety -Cognitive impairment -Sleep disturbance -Achy pain -Autonomic disturbances |
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What is the treatment for PD?
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-Goal: to maintain function & quality of life -Pharmaceutical treatment:levodopa & dopamine agonists -surgery: pallidotomy & thalmotomy -neurotransplantation |
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what is neurotransplantation?
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an experimental procedure in which fetal neurons are transplanted into the striatum (area of forebrain controlling coordination/movement); these transplanted neurons make up for the loss of normal dopamine-releasing neurons |
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what is a pallidotomy?
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removal of the globus pallidus: a part of the brain that becomes overactive in PD and causes the bradykinesia, tremors, and balance issues); usually not performed b/c of risks |
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what is a thalmotomy?
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removal of the thalamus to eliminate tremors associated w PD |
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which lobes are mildly atrophied in PD?
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frontal lobes |
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what type of neurons are lost in PD?
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dopaminergic neurons |
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What is Lewy Body dementia? what sx characterize it? what other degenerative CNS diseases is it similar to? |
Rare form of dementia characterized by frequent falls, visual hallucinations PD Sx/gait/bradykinesia fluctuating alertness similar to AD/PD |
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what is the neuropathology associated w/ LBD?
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presence of lewy bodies in cingulate gyrus, cerebral cortex, amygdala, substantia nigra lewy bodies are composed of neurofilaments surrounded by amorphous material made up of a-synuclein & ubiquitin |
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LBD is the most frequent of _____ dementia disease Age of onset? Age of death? Amount of survival time after diagnosis? |
-most frequent of the rare dementia disease-about 10-15% of ppl w/ PD develop dementia-age of onset: 50-80yo -age of death: 70-90yo - amount of time of survival after diagnosis:5-7 yrs |
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presentation/sx of LBD
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-gradual onset; progressive -symptoms accumulate -PD gait/bradykinesia -fluctuating alertness -frequent falls -more likely to respond to cholinesterase inhibitors; adverse effects from first generation anti-psychotics |
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what are the 3 categories of vascular dementia?
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-multi-infarct dementia -diffuse white matter disease (Binswanger's disease) -CADASIL: cerebral autosomal dominant arteriopathy w/ subcortical infarcts & leukoencephalopathy |
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what is Binswanger's disease? what is its clinical temporal profile similar to what other vascular dementia form? |
diffuse white matter disease gradual onset/ progressive loss of function like CADASIL |
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what are other names for vascular dementia?
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arteriosclerotic dementia hypertensive encephalopathy |
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what is the epidemiology of vascular dementia?--prevalence location & prevalence rate
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-2nd most common cause of dementia in US & Europe -most common cause of dementia in parts of Asia |
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which gene has a mutation in CADASIL?
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Notch 3 gene
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what is the presentation seen in multi-infarct dementia?
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step wise progression/increase in dementia |
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what is the presentation seen in diffuse white matter & CADASIL?
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gradual onset; progressive loss of function |
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treatment for vascular dementia
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treat the underlying causes: HTN, DM, atherosclerosis |
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describe Friedriech Ataxia |
-classic form of hereditary spinocerebellar ataxia -significant loss of myelinated axons in posterior columns, spinocerebellar, & corticospinal tracts in SC - autosomal recessive |
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inheritance pattern of Friedriech Ataxia |
autosomal recessive mutation |
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What chromosome is mutated in Friedreich ataxia? What does it encode for? What are the triplet repeats? |
Chromosome 9 frataxin gene GAA triplet repeats in most pts |
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pathology of Friedriech Ataxia -what CNS structures are being affected? -how is this present? |
-progressive myelin & axon loss from spinocerebellar > posterior columns > corticospinal tracts -sensory loss of 2PD, V, P: DSCT & DC-lose motor fxn: LCST-fibrous gliosis present in these tracts-degen. neurons in dorsal nucleus of Clarke & DRG in lumbosacral area > cervical-cell loss in dentate nucleus of cerebellum & inferior olivary nucleus -loss of Purkinje cells in cerebellar cortex |
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what degenerative disease involves progressive myelin & axon loss from spinocerebellar, SC, and corticospinal tracts?AND: loss of Purkinje cells in cerebellar cortex + loss of cells in dorsal nucleus of Clarke & inDRG of lumbosacral region & cell loss in dentate nucleus of cerebellum/inferior olivary nucleus of medulla?
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Freidreich ataxia |
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define: spinocerebellar ataxias inheritance pattern? |
group of progressive, degenerative hereditary ataxic disorders caused by mutations that are autosomal dominant and recessive |
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3 groups of mutations of spinocerebellar ataxias |
-polyglutamine disorders -channelopathies involving Ca or K ch's -gene expression disorders |
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SX:-progressive limb ataxia-impairment of gait and equilibrium-tremor of head and neck-nystagmoid eye movements-slowness of voluntary movements-scanning speech/dysarthria
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spinocerebellar ataxias |
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What degenerative disorder are MSA-P, MSA-C, MSA-A a part of?
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multiple system atrophy
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What does MSA-P, MSA-C, & MSA-A stand for?
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Multiple system atrophy Presenting w/ sx of either MSA-P: Parkinson's MSA-O: olivopontocerebellar atrophy MSA-A: autonomic dysfxn |
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if there is alpha-synuclein present in oligodendrocytes --> and the sx are variable from either PD, olivopontocerebellar atrophy or autonomic dysfxn, what is the disorder? |
multiple system atrophy |
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what is the most common inherited peripheral polyneuropathy PNS disorder?
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charcot marie tooth 1 (CMT1) |
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what is the inheritance pattern for CMT1?
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autosomal dominant |
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What is the diff between CMT1 & Freidreich's ataxia?
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CMT1:autosomal dominant; affects ppl in older childhood to adolescence; is PNS disease FA: autosomal recessive; affects ppl starting in their mid-20s; is CNS disease; also involves cardiac/glucose tolerance problems |
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CMT1 involves duplication of gene for THIS protein... |
peripheral myelin protein 22 PMP22 |
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which PNS degenerative disorder involves a mutation in both the genes making both myelin protein zero (MPZ) & connexin-32? |
CMT1 |
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what are the functions of myelin protein zero & connexin-32 ?
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to maintain myelin in the PNS and make sure it adheres to the neuron/help neurons communicate via gap junctions |
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-insidious onset in adolescence-frequent weakness/ankle sprains-foot slapping/stumbling-distal atrophy beginning in feet --> progressing to hands --> axial muscles-peroneal muscle atrophy-pes cavus & hammer toes-kyphoscoliosis-sensory ataxia (proprioceptive loss)-difficulty runningWhat is this a presentation of?
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CMT1
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what is this a presentation of?-initial complaint: difficulty walking-ataxic signs b/l in legs --> later in arms-proprioceptive loss & cerebellar ataxia-widespread unstable gait/foot slapping when walking-rhomberg sign +-rebound phenomenon: +-weakness progressing axially --> may involve speech deficits and choking-DTRs diminished/lost-plantar reflexes = extensor w/ flexor spasms-loss of vibrat/prop early; loses pain/touch later-optic atrophy-pes cavus & hammer toes-kyphoscoliosis-cardiomegaly-may develop DM or glucose intolerance |
Friedriech's ataxia |
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what type/form of SMA is this? -lack bulbar sx -can ambulate -progressive weakness is proximal |
type 3: Kugelberg-Welander disease chronic juvenile form |
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what type/form of SMA is this? -can't ambulate unassisted -have limited bulbar muscle involvement -scoliosis |
type 2: late infantile form |
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what type/form of SMA is this? -severe hypotonia -generalized weakness -bulbar muscle involvement: face, tongue, jaw muscles atrophied -muscle atrophy -diaphragm muscles atrophy = respiratory distress -loss of DTRs -congenital joint contractures |
type 1: Werdnig-Hoffman disease; severe infantile form |
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what form/type of SMA results in living in the school years or beyond?
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type 2: late infantile form |
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what form/type of SMA results in living into the middle aged years of life?
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type 3: Kugelberg-Welander disease; chronic juvenile form |
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what form/type of SMA results in death in early infancy?
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type 1: Werdnig-Hoffman disease; severe infantile form |
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what is SMA?
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spinal muscular atrophy --> degenerative PNS disorder affecting AMNs of ventral horn of SC-can begin affecting in fetus --> results in extensive motoneuron death & muscle denervation +atrophy |
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what is the inheritance pattern of SMA?
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autosomal recessive
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this gene: survival motor neurons gene is mutated in what PNS degenerative disease?
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spinal muscular atrophy
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SMN 1 & SMN2 are copies of genes located in what chromosome? They are afflicted in what PNS degenerative disease? |
chromosome 5 spinal muscular atrophy |
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SMN1 gene is located in ________ on chromosome ___
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telomere; 5
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SMN2 gene is located in ________ on chromosome ___ |
centromeric; 5
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Of the two copies of the ____ gene: which one results in presentation of SMA? |
SMN1 |
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Of the two copies of the ____ gene: which one results in blunting of expression of SMA? |
SMN2
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pathological continuation of apoptosis of AMNs in ventral horn of SC is a pathophysiology of what PNS degenerative disease? |
SMA
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which PNS disease is: acute, demyelinating, inflammatory polyradiculoneuropathy? |
Guillan Barre syndrome
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which disease involves a preceding infection such as a upper respiratory tract or intestinal diarrhea infection? |
guillon barre syndrome |
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which disease is associated w/ systemic conditions such as HIV, SLE, sarcoidosis, & lymphoma? |
GBS |
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which disease involves complement deposited on the outside of the myelinated fiber?
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GBS
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which inflammatory PNS disease involves inflammatory cell infiltration/myelin degeneration/macrophages destroying Schwann cells?
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GBS |
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what is the most common acquired demyelinating polyneuropathy? |
GBS |
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which PNS inflammatory disease is assoc w/ infection w/ campylobacter jejuni? |
GBS
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which PNS inflammatory disease is the most common cause of acute generalized weakness? |
GBS
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Presenting sx of which PNS inflammatory disease:-rapidly progressing weakness = reaching full presentation by <4 weeks-weakness starting in legs & progressing upwards-ventilation required in 1/3 cases-sensory changes not as prominent as motor-pain involved: arthralgia, back pain, cramping, aching-hypo or areflexia-autonomic dysfxn-ophthalmoparesis |
GBS |
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what is the chronic form of GBS? |
chronic inflammatory demyelinating polyradiculopathy |
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long thoracic nerve:Spinal levels?Innervates?Sx of entrapment?
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C5-7-serratus anterior-winging of scapula |
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dorsal scapular nerve:Spinal levels?Innervates?where can it get injured?Sx of entrapment? |
-C5 root-rhomboid major/minor & levator scapula-in proximal region of neck-winging of medial border of scapula |
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suprascapular nerve:-derived from what part of brachial plexus?-innervates?-2 locations where it can get injured?-how does it get injured = what palsy is this?-Dx |
-upper trunk-supraspinatus & infraspinatus-proximal shoulder & suprascapular notch-during delivery of baby = stretch lesion = Erb's palsy-or ossification of transverse scapular ligament at the scapular notch = scapular notch syndrome-C5-6 root damage --> but sx of deltoid, brachioradialis, etc are not present |
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musculocutaneous nerve:-spinal levels/which part of BP?-what nerve does it eventually become?-common places of entrapment:-sx:-dx: |
-C5-7; lateral cord of BP-lateral cutaneous nerve of forearm-head of humerus or under coracobrachialis muscle-biceps brachialis is weak/sensory abnormality-C5-6 nerve root damage; but deltoid, brachioradialis, rhomboids, extensor carpi radials are not damaged = tells u it's Musculocutaneous |
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axillary nerve:-spinal levels/part of BP/gives sensory branch?-innervates?-where can be injured?-sx
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-C5-6/gives off branch to lateral cutaneous nerve of forearm/posterior cord-deltoid/teres minor-dislocation of head of humerus-deltoid weakness/numbness of area over deltoid |
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SX:-purely motor deficits-degeneration of AMNs in bulbar, cervical, thoracic, lumbar regions-have both UMN & LMN lesion sx (UE: flaccidity & LE spasticity)-bulbar sx: dysphagia, dysarthria, dyspneaALL in the face of normal sensoryWhat is this presentation of? |
Amyotropic lateral sclerosis |
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pathogenesis of ALS (cellular processes occurring)
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oxidative stress process, excitotoxicity = eventual cell death
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what is the hallmark of ALS?
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death of peripheral motor neurons from ventral horn, corticospinal neurons in motor cortex & brainstem nuclei |
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what disease has purely progressive motor deficits in the face of normal sensory & ANS function? |
ALS |
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ALS death can result from ______ failure |
respiratory
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What is frontotemporal dementia?
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-dementia characterized by initial cognitive, behavioral, speech, and motor signs |
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what are the 3 clusters of FTD?
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-frontotemporal dementia-primary progressive aphasia-semantic dementia |
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how is AD different from FTD?
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AD: involves memory loss FTD: cognition, behavior, speech, motor problems |
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what is the pathology (physical manifestations of brain; cellular processes that occurred) of FTD?
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marked frontal & temporal lobe atrophygliosis & neuronal cell loss tau pathology |
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presentation of FTD (as compared to semantic dementia & primary progressive aphasia)
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-planning/judgment abilities are affected; memory is spared-apathy (disinterest/no concern or enthusiasm)-disinhibition (no control over impulsive responses to social situations)-weight gain-food fetishes-compulsions-euphoria |
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presentation of primary progressive dementia (as compared to FTD & semantic dementia) |
-non-fluent aphasia (tongue tied, speech is halted, un-grammatical) but others understand what they're saying -impaired reading/writing -comprehension intact |
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presentation of semantic dementia
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-fluent aphasia (can speak fine but can't find right words; use roundabout way to explain things; content is not meaningful) -anomia: can't recall words/names -impaired word comprehension. Others don't understand what they're saying |
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what is the age of onset for FTD?
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50-70
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Presenting sx of transient ischemic attack?
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-focal neuro deficits/ stroke sx-lasts for seconds-minutes; less than 24 hrs |
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what is a carotid stenosis?what is it usually caused by?
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when there is an occlusion of the carotid artery - caused by atherosclerosis/plaque buildup in vessel |
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_______ cerebrovascular disease can present as: TIA or a stroke |
carotid stenosis
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what are the presenting sx of a symptomatic carotid stenosis?
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-contralateral weakness/paralysis-ipsilateral blindness-numbness, loss of sensation, or paresthesia on contralateral side-dysarthria, dysphasia |
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how is an asymptomatic carotid stenosis detected? what should be done afterwards? |
auscultating for carotid bruit; imaging! |
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what is the % for having a stroke when there is asymptomatic carotid stenosis? |
1-3% |
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what is a carotid endarterectomy/angioplasty/stent? |
1. surgical procedure removing plaque from w/in interior of vessel2. inserting balloon within stenosed artery to widen it3.stent: metal coil used to prop open artery & decrease chances of it narrowing again |
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what is the end stage result of cerebrovascular disease?
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loss of perfusion of oxygenated blood to part or all of the NS |
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what are the 2 major categories of cerebrovascular disease?
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-focal stroke -diffuse ischemia |
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what are the 2 categories of a stroke?
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infarctive & hemorrhagic stroke |
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describe the process of an infarctive stroke
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-occlusive process that involves the plugging of a cerebral vessel thus causing decreased perfusion of blood to areas distal to the occlusion |
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of all the strokes that occur annually, which type of stroke occurs 85% of the time? |
infarctive stroke
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what are the two types of infarctive stroke?
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embolic & thrombotic
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what occurs in an embolic infarctive stroke?what is the clinical temporal profile?
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when an embolus from another vessel or heart travels up into cerebral vasculature and plugs up the vessel-acute onset w/o warning; lightning speed; no progression |
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what occurs in a thrombotic stroke?what is the clinical temporal profile? |
when there is gradual occlusion of the vessel - usually from atherosclerotic plaque or thickening of the vessel wall (lipohyalinization)-acute onset w/ prodrome (heralding signs like a HA or the sx that will occur) or TIA |
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what sx tell u whether a stroke is infarctive or hemorrhagic? |
if sx are progressive, it is hemorrhagic; if sx are stable, it's infarctive |
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what occurs in a hemorrhagic stroke?
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when there is rupture of a vessel leading to extravasation/accumulation of blood within a space in the brain |
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name 5 different types of cerebral hemorrhages & discuss their differences/definitions/imaging clues
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1. epidural hemorrhage: bleeding into space between the calvarium & outer dura; lens-shaped disk in CT; usually arterial in origin; middle meningeal A; blow to side of head --> squamous portion of temporal bone 2. subdural hemorrhage: bleeding between inner dura & arachnoid mater; venous in origin; bridging cerebral veins that can rupture from brain moving around vigorously in cranial vault 3. subarachnoid hemorrhage: bleeding within CSF/in subarachnoid space; CT: pentagular cistern & see blood within sulci; arterial aneurysm rupture around circle of Willis 4. intraparenchymal hemorrhage: bleeding within brain tissue from rupture of vessel in brain 5. intraventricular: results from intraparenchymal; bleeding in ventricles |
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what is diffuse ischemia? what is it usually caused by? |
when the brain doesn't get enough of its blood supply --> usually from heart failure or occlusion of large extra-cerebral vessel like internal carotid |
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what can cause a mild diffuse ischemia?
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water shed infarct --> when an area of tissue between 2 major vessels gets ischemic |
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what is the most common cause of a stroke? how does this cause occur? |
ischemic infarction --> occurs from occlusion of cerebral vessel
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what is the most frequent inpatient problem seen in typical general hospital?
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ischemic stroke
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name several etiologies of ischemic strokes:
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-embolic events (can be heart to artery or artery to artery)-thrombotic events: atherosclerosis - large vessel disease & lipohyalinization in small vessels |
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what are the risk factors for ischemic stroke?
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-HTN -smoking -DM -Atrial fibrillation -hyperlipidemia -carotid stenosis |
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3 parts of the pathology of ischemic stroke?
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-initial necrotic zone -penumbra: area surrounding the necrosis: has swelling & pressure; still viable tissue getting blood from surrounding anastomoses -edema/herniation |
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where is the border zone or the watershed infarct zone? |
between MCA & ACA; or between MCA & PCA-C shaped zone in surface of cerebral cortex
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what is the treatment for ischemic stroke?
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-anti-coagulants -intervenous thrombolysis w/ recombinant tissue plasminogen activator when indicated -intraarterial ProUrokinase when indicated |
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what are the complications of an ischemic stroke? types of: 1. edema; 2. herniations |
-there is a high risk of recurrence in acute ischemic stroke Cytotoxic edema; subfalcine, uncal, transtentorial, or transcalvarial herniations |
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how do u prevent ischemic strokes?
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-anti-platelet agents-anticoagulation agents when indicated in pts w/ underlying cardiac disease-carotid endarterectomy
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what is a duret hemorrhage? what is the end result? |
when small vessels of the brainstem rupture causing hemorrhages within the brainstem - end result is death |
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what is the cause of a duret hemorrhage?
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when the cerebrum is pushed downwards from increased ICP, causing the brainstem to be shoved against the cranium --> squishing it and its vessels |
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which CNS generative disease is caused by a mutation in the frataxin gene resulting in GAA triplet repeats? |
Freichreich's ataxia |
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What is Duchenne Muscular Dystrophy classified as? |
primary muscle disease |
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Most common cause of childhood-onset muscular dystrophy |
duchenne muscular distrophy |
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mutation in this protein causes duchennes muscular dystrophy |
dystrophin |
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inheritance pattern of duchennes muscular dystrophy |
x linked recessive |
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onset of duchennes muscular dystrophy |
presents at birth, diagnosed until 3-5 years old |
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Presentation - delayed motor milestones with progressive worsening strength - hip girdle weakness in early walking - gower's sign - pulmonary function decreases by chest deformity and muscle weakness - mental retardation |
duchenne's muscular dystrophy |
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Tx for duchenne's muscular dystrophy |
glucocorticoids to slow progression |
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protein mutation in becker muscular dystrophy |
dystrophin |
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muscle biopsy reveals necrotic fibers with regeneration and fibrosis with variable muscle fiber size in ... |
becker's muscular dystrophy |
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onset of becker's muscular dystrophy |
5-15 years old, slower progression |
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Presents 5- 15 years old weakness in proximal muscles of LE hypertrophy of muscles (especially calves) mental retardation and cardiac involvement |
becker's muscular dystrophy |
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hereditary, chronic, progressive skeletal muscle disease, with triple repeat disorder |
myotonic dystrophy |
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inheritance pattern of myotonic dystrophy |
autosomal dominant, shows anticipation |
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what chromosome and repeat is in myotonic dystrophy -what gene is affected? |
CTG repeat on chromosome 19 -dystrophia myotonia-protein kinase gene |
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what is the most common adult muscular dystrophy |
myotonic dystrophy |
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Pathology: increased numbers of nuclei per fiber with some nuclei displaced to center of muscle fiber; what is the primary skeletal muscular disease? |
myotonic dystrophy |
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Presentation: - insidious onset of gait abnormalities in late childhood - sustained muscle contractions - progresses hands to face - elongated appearance of face with open mouth - other signs (frontal balding, ptosis, decreased IgG, smooth muscle involvement) |
DM1 myotonic dystrophy |
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Tx for myotonic dystrophy |
phenytoin when necessary for myotonic contraction |
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Diagnostic Testing - percussion of thenar eminence. EMG studies, molecular genetic testing |
myotonic dystrophy |
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Congenital myopathy involving defect in cytoskeleton of muscle cells preventing marginalization of the nucleus (central nuclei in muscle fibers instead of peripheral locations) |
centronuclear myopathy |
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Centronuclear myopathy - which type? - severe hypotonia and weakness at birth |
neonatal form |
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Centronuclear myopathy - which type? - delayed motor milestones, Marfanoid body habitus |
early childhood form |
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Centronuclear myopathy - which type? - onset in second or third decade - mild non-progressive limb weakness |
early adult form |
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Presentation - weakness - poor endurance - discomfort - exertional dyspnea - tachycardia |
mitochondrial myopathy |
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Most common cause of numerous metabolic disorders of glycolysis that affect muscle contraction |
McArdle's Disease |
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what enzyme is deficient in McArdle's disease? |
muscle phosphorylase |
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Inheritance of McArdle's disease and natural history |
- autosomal recessive - reduced pyruvate production because cannot break down glycogen - adolescent onset, male predominance |
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Muscle biopsy: subsarcolemmal vacuoles |
McArdles disease |
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Presentation - adolescent/ adult onset of exercise intolerance and muscle cramps - most sensitive to brief exercise of max intensity - rhabdomyolysis after strenous exercise - darkly colored urine after exercise - renal failure |
McArdle's disease |
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Disease of neuromuscular transmission with decrease in available Ach receptors on postsynaptic membrane secondary to anti AchR antibodies |
Myasthenia Gravis |
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Presentation - fatigueable weakness of skeletal muscle ** - diploplia, ptosis, difficulty chewing, dysphagia, nasal timbre in voice - NORMAL DTR and sensory |
Myasthenia Gravis |
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Testing and Tx for Myasthenia Gravis |
- Ab testing - anticholinesterase medications - thymectomy - immunosuppression |
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Eaton-Lamberts syndrome definition |
- disorder of presynaptic terminal resulting in weakness similar to myasthenia gravis - Ab directed to P/Q calcium channel in presynpatic membrane |
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What disease is associated with small cell carcinoma (thus paraneoplastic)? |
Eaton-Lambert Syndrome |
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Presentation - proximal muscles of LE - ptosis of eyelids and diploplia - absent DTR - autonomic changes: dry mouth/impotence - incremental change in strength |
Eaton-Lambert Syndrome |
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Classification of Complex Regional Pain Syndrome I and II |
idiopathic PNS |
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Types of Complex Regional Pain Syndrome |
Chronic pain that develops after injury at either... - Type 1: local tissue - Type 2: peripheral nerve |
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What disease shows... - Female to male ratio 3:1 - likelihood is higher if lesion is distal or at sciatic nerve - Age distribution in early 40s - Most typically a single limb (77% preceded by trauma) - onset within 1 month of injury |
complex regional pain syndrome |
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Acute stage 1 complex regional pain syndrome |
- aching, burning pain - aggravated by physical contact and emotional upset - bony changes may be present - 1 to 3 months post injury |
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Dystrophic stage 2 complex regional pain syndrome |
- spontaneous, radiating burning pain - trophic change to hair and skin of affected area - lasts 3-6 months post injury |
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atrophic stage 3 complex regional pain syndrome |
- diminishing pain - skin cools - subcutaneous atrophy and wasting - 6 to 12 months post injury |
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Presentation - paresis and burning pain - altered skin temp and color change - limited ROM - hyperpathy, hyperesthesia - edema - muscle atrophy - tremor |
complex regional pain syndrome |
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Definition: sudden, severe, paroxyms of electric shock-like facial pain usually focused around lips, gums, cheek, or chin |
Trigeminal neuralgia |
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What artery is usually involved in the compression of CN 5 in trigeminal neuralgia? |
Superior cerebellar artery |
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Presentation - electric shock like, stabbing face pain - unilateral - triggers can be intermittent |
trigeminal neuralgia |
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Trigeminal neuralgia peak age incidence |
50-70 years old |
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what type of drugs are the main cause of intracerebral hemorrhage in young people? |
sympathomimetic drugs (e.g. cocaine) |
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this type of hemorrhage accounts for 50-60% of all intracerebral hemorrhages |
hypertensive hemorrhage |
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what is a significant cause of intracerebral hemorrhage |
head trauma |
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pathophysiology of intracerebral hemorrhage |
vessel rupture secondary to long-standing hypertension and acute hypertensive episodes |
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Put these in order of most likely location to least likely for intracerebral hemorrhage
- thalamus - pons - basal ganglia (putamen) - cerebellum |
1. basal ganglia 2. thalamus 3. cerebellum 4. pons |
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Presentation - sudden onset of focal neurologic signs/symptoms - associated with headache and nausea - rapidly progressing (less than a day) to loss of consciousness and neurologic demise due to increase ICP - midline shift present on imaging |
intracerebral hemorrhage |
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gold standard testing for intracerebral hemorrhage |
CT scan |
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Tx for intracerebral hemorrhage |
- early decompression surgery for large cerebellar hematomas - osmotherapy with mannitol - developing hydrocephalus is treated with extraventricular damage - hyperventilation for HTN when indicated |
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Almost exclusive non-traumatic origin of subarachnoid hemorrhage |
ruptured saccular aneurysm |
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Blood contaminates CSF is these hemorrhages |
Interventricular hemorrhage Subarachnoid hemorrhage |
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This type of bleeding accounts for 85% of subarachnoid hemorrhages |
aneurysmal bleeding |
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xanthochromic CSF is pathognomonic for what? |
Subarachnoid hemorrhage |
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Shows star sign on imaging |
subarachnoid hemorrhage |
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Factors involved in subarachnoid hemorrhage |
1. genetic 2. age 3. toxins (alcohol and smoking) |
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gold standard of diagnosis for subarachnoid hemorrhage |
CT scan |
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Presentation - range from normal to deeply comatose - signs of meningeal irritation in 1/3 pts - worst headache of their life - cushings response |
subarachnoid hemorrhage |
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Tx for subarachnoid hemorrhage |
- surgical repair of aneurysm - drainage and shunt if indicated - clot removal if indicated - triple H therapy (hemodilution, HTN, hypervolemia) |
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prevention of subarachnoid hemorrhages |
- prevention of HTN - cessation of smoking - moderation of alcohol use |
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complications of subarachnoid hemorrhage |
- rebleeding (hydrocephalus or vasospasm) - hyponatremia from over secretion of antidiuretic hormone |
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tangled mass of dilated vessels embedded in the brain |
arteriovenous malformations |
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4 types of arteriovenous malformations |
1. arteriovenous malformations * most common 2. cavernous angiomas 3. capillary telangiectasias 4. venous angiomas |
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Vascular formations are a source of _______________ stroke |
hemorrhagic stroke |
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This may present as a seizure disorder |
intracerebral hemorrhage vascular malformation |
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Clinical presentation age onset for vascular malformations |
10-30 years old, most are congenital origin |
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Presentation - may be silent throughout life - headache - focal seizures (30%) - intracerebral hemorrhage of varying size - large AVM can present with bruits |
vascular malformation |
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Presentation - acute onset - back pain - pain radiating into legs - weakness below level - B/B incontinence - analgesia below level - 2PV intact |
spinal artery infarction |
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causes of ASA infarction |
- arthromas involving the aorta * - surgical repair of the aorta * - collagen vascular disease - syphilis - dissecting aortic aneurysm - embolic infarct - mass effect from nearby tumor - systemic arterial hypotension |
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classification of normal pressure hydrocephalus |
CNS, idiopathic |
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increased ventricular volume with concomitant specific neurological signs with NORMAL CSF pressure |
normal pressure hydrocephalus |
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- enlarged ventricles and sulci - normal CSF pressure |
normal pressure hydrocephalus |
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risk factors for normal pressure hydrocephalus |
- stroke - head injury - meningitis - brain tumor - arterial HTN - DM |
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Triad of findings in normal pressure hydrocephalus |
- incontinence X2 (wet) - dementia (wacky) - gait disorder (wobbly) |
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diagnostics for normal pressure hydrocephalus |
- lumbar puncture (find normal CSF pressure) - CT scan (shows ventriculomegaly without gyral atrophy) |
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Tx for normal pressure hydrocephalus |
ventricular shunting |
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classification of restless leg syndrome |
CNS, idiopathic |
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movement disorder that creates restless, nonpainful movement of LE and affects sleep |
RLS |
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Presentation - aching sensation in calves/thighs with creepy/crawly feeling - can be suppressed for short time - relieved by movement - may not Dx until 10-20 yrs after onset - symptoms progress |
RLS |
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What receptors are involved in Tourette's syndrome and where are they located |
D2 receptors in ventral portion of corpus striatum of basal ganglia |
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most common tic disorder |
Tourette's syndrome |
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Common comorbidities of Tourette's syndrome |
- OCD - ADHD - impulse control |
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pathogenesis has overactivity in ________ pathways in Tourette's syndrome |
dopaminergic pathways |
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Inheritance of Tourette's syndrome |
- low penetrance and modifier genes |
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Presentation - brief, repetitive purposeless stereotyped actions - vocal and motor tics present |
Tourette's syndrome |
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Tx for Tourette's syndrome |
- dopamine blockers (antipsychotics) - deep brain stimulation in some pts |
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Presentation - insidious, unrelentingly progressive - head/neck/back pain - cape like distribution of analgesia - flaccid weakness at level - spastic weakness below level - incontinence X2 can be involved |
syringomyelia |
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2 types of syrinx |
1. true syrinx - opens in white matter of SC and fills with ECF 2. hydromyelia - dilartion of central canal of SC that fills with CSF |
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post traumatic syrinx is associated with what type of injury? |
Whiplash injury |
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Syrinx is frequently associated with .... |
Chiari type I malformation |
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Syrinx diagnostics |
MRI T1 and T2 |
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Syrinx essentially results in what type of cord syndrome? |
central cord syndrome |
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Two types of hearing loss |
Conductive hearing loss Sensorineural hearing loss |
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where is the defect in conductive hearing loss |
external or middle ear |
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where is the defect in sensorineural hearing loss |
inner ear, auditory nerve, or central auditory pathways |
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loss of hearing high frequencies with older age |
presbycusis |
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isolated mutations that result in deafness with no additional symptoms most commonly involve _________________ |
connexins |
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differing pitch at each ear, involved CN 8 is called |
diplacusis |
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otalgia and otorrhea typically involves |
otitis media |
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hyperacusis involves pathology with which CN? |
CN 8 |
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diagnostic testing for hearing loss |
weber test rinne test |
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2 main categories of otitis media |
suppurative/acute otitis media (AOM) nonsuppurative/secretory otitis media with effusion (OME) |
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one of the most commonly diagnosed illness of children |
otitis media |
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- commonly preceed by viral URTI - bacterial (75%) or viral origins - age relate change in eustachian tube or tensor veli palatini |
otitis media |
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top 3 bacterial causes of otitis media |
1. streptococcus pneumonia ** 2. haemophilus influenzae 3. moraxalla catarrhalis |
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viral origin of otits media (2) |
rhinovirus and respiratory syncytial virus |
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Tx of AOM |
4/5 cases resolve spontaneously antibiotics indicated for AOM with bulging eardrums |
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AOM can spread where? |
cranial cavity, meningitis, subdural abscess, encephalitis |
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complication of otitis media can lead to hearing loss of how many decibels? |
21-30 |
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risk factors for otitis media |
- age - sex - race - type of milk in infant feeding - tobacco smoke exposure - day care exposure - respiratory allergies - seasonal effects - genetic backgroun |
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middle ear infection is a synonym for |
otitis media |
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perception of sound otherwise not present in surrounding environment |
tinnitus |
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90% of cases are this form of tinnitus |
continuous |
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tinnitus is usually associated with |
hearing loss |
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types of tinnitus |
continous tinnitus pulsatile tinnitus (rare 5-10%) |
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- perception of tones such as whistling, buzzing, ringing, chirping or grinding - more obvious in quiet environments |
continuous tinnitus |
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perception of pulsatile sounds, usually vascular relation |
pulsatile tinnitus |
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illusion of movement of self or surroundings, usually due to vestibular system pathology |
vertigo |
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most common vestibular disorder |
benign positional vertigo |
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3 neural systems involved in determining sense of position in space |
1. vestibular system 2. somatic sensory system 3. visual system |
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causes of vertigo |
- damage to vestibular appartus - benign positional vertigo - meniere's disease - acoustic neuroma/in cerebellopontine angle - MS - lateral medullary syndrome - pontine syndromes - cerebellar infarct |
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Types of vertigo |
1. peripheral vestibular system vertigo 2. benign positional vertigo 3. meniere's disease 4. central vestibular system vertigo |
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what type of vertigo is this? - unilateral nystagmus with unilateral spinning sensationa and unilateral direction of falling |
peripheral vestibular system vertigo |
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what type of vertigo is this? - vertigo lasting seconds and triggered by head position changes |
benign positional vertigo |
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what type of vertigo is this? - fluctuating and progressive sensorineural hearing loss - vertigo lasting hours - tinnitus |
Meniere's disease |
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what type of vertigo is this? - unilateral or bidirectional nystagmus - spinning sensation and falling |
central vestibular system vertigo |
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Tx for vertigo |
- bed rest - vestibular suppressant drugs - repositioning exercises |
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Triad of presenting signs of Parkinson's (the three S's) |
shakes (4-6 Hz tremors) stiffness (rigidity) shuffling gait (bradykinesia) |
