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Treatments for Huntingtons Disease - SymptomaticGeneral Treatment Symptom Classes Specific drugs
Anti-dopaminergics Chorea D2 receptor blockers Haloperidol, perphenazinePresynaptic dopamine depleters Tetrabenazine, reserpine
Antidepressants Mood SSRIs FluoxetineAntipsychotics Psychosis/
depression
Typical antipsychotics Haloperidol, perphenazine
Atypical antipsychotics Clozaril, quetiapinePalliative Advanced sxs
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General adverse effects(exception noted ) Respiratory depression
(except ketamine) Nausea (except propofol) Lower blood pressure
(except etomidate,ketamine)
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Seizure Terms Seizures : Paroxysmal episodes of brain dysfunction manifested by stereotyped alteration in behavior caused by hypersynchronization of
neuronal discharges Clinical manifestations based on what part(s) of the brain is (are) involved. Convulsion - seizure involving bodily movement Non -Convulsive Seizure - seizure with no body movement
Epilepsy : recurrent and unprovoked seizures
Ictal (adj.) or ictus (n.) =seizure
Post Ictal =after the seizure Aura =unusual sensation or psychological state seconds to minutes before seizure occurs Automatisms =nonsensical movements that pts do during a seizure. Convulsions =shaking episodes Tonic =posturing, stiffening Clonic =repetitive, forceful rhythmic movements Complex =consciousness altered Simple =no alteration of consciousness Par tia l =involving limited parts of the brain Generalized =involving extensive region of the brain, including both sides and/or brainstem reticular activating system
Grand mal = older term for generalized tonic/clonic seizure
Petite mal = older terms for non-convulsive absence seizure
EEG Frequencies: Beta: 13-30 Hz Alpha: 8 to 13 Hz Theta: 4 to under 8 Hz Delta:
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Addiction: A maladaptive pattern of substance abuse, leading to clinically significant impairment or distress, asmanifested by three (or more) of the criteria occurring at any time in the same 12-month period .
Nonepileptic seizures: Psychiatric Pseudo -seizures
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Pharmacokinetic or Metabolic Tolerance : Increased metabolism with chronic use. In alcoholics, the enzymemetabolizing alcohol in the microsomal pathway is upregulated.
o Example: An alcoholic can metabolize 3 times the amount of beer of his friends. Pharmacodynamic or Physiological Toleranc e : Common consequence of chronic drug is a down regulation (change in
receptor number) or a desensitization of the coupling of receptor to the 2 nd messenger.o The mu opioid receptor is down-regulated in a heroin abuser who gets in a car accident. More morphine is
necessary then the usual amount to relieve her pain Learned or Behavioral Tolerance : Behavioral adaptions that give the appearance that the person is not intoxicated
with the substance.o An alcoholic actor is able to walk on stage without staggering despite ingesting large amounts of vodka before his
performance Reverse Tolerance or Sensitization : Certain responses are enhanced through adaption to chronic use of certain drugs
of abuse (particularly psychomotor stimulants). A frequently used dose suddenly produces an exaggerated effect.o Example: A chronic cocaine user develops a seizure after snorting his usual grams of cocaine
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Nociceptive pain : Pain due to mechanical, thermal, orchemical activation of nociceptive receptor Nociceptors are designed to detect noxious stimuli
& transmit an impulse to pain fibers (eg painimpulse)
Most pain falls into the nociceptive category. Neuropathic pain : Pain due to damage to neuronal
pathways involved in sensory processing. Hyperalgesia : Abnormal increase in sensitivity to painful
stimulimay occur around injury area or with chronicpain.
Allodynia : Perception of normal stimuli (eglight touch)as painful occurs with various conditions.
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Metabolic induce liver enzymes Pharmacodynamic receptors in brain adapt to chronic
use (linked to withdrawal) Behavioral cues associated with substance elicit
response (craving) Reverse become sensitized to substance
Cross show tolerance to new substance (ex: EtOH +benzos)
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Caffeine intoxication: Use of > 250mg caffeine (>2-3 cups of coffee)
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A patient taking phenytoin 300mg/d comes in to the ER with breakthrough seizures. His blood level of phenytoin is 12 mg/dL. Normal is 10-20 mg/dL. Theneurologist tells you to increase the dose level until the blood level is 20 mg/dL. What would you do?
1. 300 350 mg/d2. 300 400 mg/d3. 300 450 mg/d4. 300 600 mg/d
Explanation: A relatively small change in the dose can result in a fairly large change in the blood level depending on the patients indiv idual inflection points.This is because as phenytoin increases in the blood, it changes from first order kinetics to zero order kinetics.
What is the first line treatment for a prolonged generalized seizure?1. Phenytoin2. Phenobarbital3. Ethosuximide4. Lorazepam or Diazepam IV
Out of the anticonvulsants, what is the number one drug to avoid in pregnant women?1. Valproate2. Ethosuximide3. Phenytoin
A 1 yo pt with motor and speech delay is found to have seizures and cherry red spot on the retina. Which of the lab tests do you send?1. Labs for hexosaminidase A tests for Tay Sachs disease2. Serum ammonia level3. Urine organic acids4. MRI to rule out optic glioma
Pt with myoclonus, seizures, proximal muscle weakness, eye movement abnormalities, and deafness. Dx? MERRF mitochondrial encephalopathy with raggedred fibers. Ragged red f ibers cause the proximal muscle weakness.
MELAS mitochondrial encephalopathy with lactic acidosis and stroke mental retardation, lactic acidosis, recurrent stroke-like episodes
Lesch-Nyhan HGPRT deficiency
8yo with personality change with ataxia and spastic paraparesis adrenal leukodystrophy. Test for very long chain FAs
Severe MR, fair skin, fair hair, mousy body odor, blue eyes PKU.