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197 Cards in this Set
- Front
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AA metab disorder
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PKU
MSUD HCY TYR I |
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mc and preventable cause or mental retardation
inability to prod thyroid homr > cretinism life long thyroid replacement |
Congenital hypothyroidism
|
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steroid biosynthesis > decr cortisol prod and aldosterone
21-hydroxylase def > salt wasting |
Adrenal hyperplasia/ adenogenital synd
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def. in active transport molecule responsible for reabs a.a. from PCT > incr in urine
Cystinuria and Hartnup |
Renal aminoaciduria
|
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lack of transport molecule for COL(lysine)A
> colorless hexagonal cysteine crystals in acidic urine |
Cystinuria
|
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def in active transp molecule for reabs of a.a. from PCT
> incr aa in urine |
Hartnup synd
|
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incr blood conc due to def in metabolic pathway of aa
incr conc in urine and plasma PKU Tyrosinemia Alaptonuria Albinism (phe) MSUD Homocystinuria |
Overflow aciduria
|
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phenylalinine-hydorx def (req to convert phe > tyrosine)
incr conc in plasma and urine > abn metabs in urine= phenylketones musty odor elim phe from diet Guthrie test |
PKU
|
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bact growth = incr phe in serum
> 6mg/dL , diet restriction |
Guthrie
PKU |
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incr tyrosine in blood
disorer of phe pathway |
Tyrosinemia
|
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homogentisic acid oxidase > build up pf HA > black depositis in cartlige
phe pathway |
Alkaptonuria
|
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absence of tyrosinase (tyrosine> melanin)
phe pathway |
Albinism
|
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branched chain aminaciduria
ketoacid decarboxylase def (for metab of leu, isoleu, val) dietary restricts dont work |
MSUD
|
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cystathione synthase def (homocystine> cystathione)
effects methionine regen give folic acid and B12 |
Homocystinuria
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Carb abns
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Galactosemia
GSD |
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def of enzyme requ to convert galactose>glc
> accuml of galactitol= neurotoxic Clinitest |
Galactosemia
|
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enzyme def and accuml of glycogen in liver and skel muscle
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GSD
|
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G6P def
glycogenolysis, hypohlc, growth retardation, ketosis, Lactic acidosis, hepatomegaly |
GSD 1
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other def
milder sympts incr glycogen in skel muscle |
GSD II, V, VII
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liver form
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GSD III, VI
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severe liver form
cardiac and skel muscle |
GSD IV
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def in enzymes resp for metab of f.a.
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lipid abn
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abn lipid storage \body cant utilize stored fat
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glycolipid def
|
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def transmembrane protein
> viscous secr, lung disease, pancreatic insuff incr in Cl sweat test |
CF
|
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for CF
uses pilocarpine > 60 = CF N= >35 |
Sweat Cl test
|
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chemical is drug if
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it is selective for site of action
reversible prod theraputic/toxic effect |
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minimum
lowest conc that will prod response |
MEC
|
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lowest conc that will prod an adverse resp
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MTC
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TI=
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MTC/MEC
|
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plasma level =
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tissue conc
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peak dosent equal conc in tissue, only after 8 hours
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Digoxin
|
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peak conc of drug is <MTC and trough is > MEC
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Steady state
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constant dose given every 1/2 L after 5-7 doses
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steady state
|
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thet route the drug follows from into to prod of resp
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drug disposition
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removes xenbiotics
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liver
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most drugs
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passive distribution
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distrbution effects
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pH
binding to plasma proteins |
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only __ drugs are lipid sol
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nonionized
|
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equ for weak basic drugs
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pH=pK + log (nonion/ion)
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equ for weak acid drugs
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pH=pK + log (ion/nonion)
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if pH>pH = ion
if pH< pK = nonion |
for acidic drugs
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if ph>pK = nonion
if pH,Pk = ion |
for basic drug
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abs easier
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acid than base drug
|
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are transported easily incirc with no carrier protein
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water sol drug
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trans protein for acid drug
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albumin
|
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carrier protein for basic drug
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alpha 1 gylcoprotein
|
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major site is liverminor site = kidney, brain, lungs, skin, GI
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biotranformation
|
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rxns metabolize lipophilic drugs to more polar forms to facilitate renal excr
by redox rxn cytochrome P450 in smooth ER undergo redox that inactivates drugs metab product are biologically active |
Phase I
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for polar drugs
rxn= conjugation conjugates are water sol and can be excr by kidneys drugs are metab according to 1st order |
Phase II
|
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if conc is within capacity of detox/conj rxn
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1st order
dep on conc |
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excr through kidneys
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water sol drugs
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secr through bile
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lipid sol, polar drugs
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clearance=
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Vd x kelim
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Vd=
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dose/imm plasma conc
|
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Kelim=
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0.693/t(1/2)
|
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75% free
from digitalis plant improv contract by effecting Na/K/ATPase pump for CHF |
Digoxin
|
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antiarrythmic
for AMI compl metab in liver> 2 metabs |
Lidocane
|
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antiarrythmic
metab in liver> NAPA |
Procainamide
|
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antiarrythmic, myocardial depressant that lowers hearts ability to conduct current
metab in liver > 3 hydroxyquinidine |
Quinidine
|
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treats for gram neg bact
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Aminoglycosides
|
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for gram pos bact
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Vancomycin
|
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antiepileptic drugs
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Phenobarbital
Pheytoin Valproic acid Carbamazepine Ethosoximide |
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Psychoactive drugs
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Lithium
TCA |
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Bronchodilator
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Theophylline
|
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Immunosupp
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Cyclospoine
Tacrolimus |
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tox of 6
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<5 mg/kg
|
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tox of 5
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5-50 mg/kg
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tox of 4
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50-500 mg/kg
|
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tox of 3
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0.5-5 g/kg
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tox of 2
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5-15 g/kg
|
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tox of 1
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>15 g/kg
|
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low TI
assume subs is present need quant result invasive (blood) slow TAT metab may interfere expensive |
TDM
|
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screen
qualitative noninvasive(urine) fast TAT can detect metabs cheap |
Toxicology
|
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is toxic to 50% of population
|
TD50
|
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ASA
analgesic interfers with plt aggr and gi overdose> resp alkalosis -incr lactate ->ketoacids>metab acidosis mixed acid/base disorder >500 = lethal |
Salicylate, Aspirin
|
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Measure Salicylate
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Trinder rxn, purple color
|
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anagesic
overdose> hepatotoxicity (necrosis) metab and conj by liver damage is 3-5 p.i. >150 @ 4 hrs is toxic liver can conjugate acetamidoquinone (intermediate) by glutathione |
Acetaminophine
Tylenol |
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Acetominophine overdose>
|
incr N-acetylbenzoquinoneimine (conj by glutathione)
hepatic necrosis Antidote = NAC ( to incr cystine) |
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200-250 more affinity for Hgb
N= 0-5% COHgb smoker <15% 70-80%= lethal |
CO
|
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CO measurement
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Spot CO check, bright red blood
|
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most common
metab by liver nonpolar metab by alcohol dehydrog (redox) > acetaldehyde and acetate (2nd) 200-400= unconcious .1g/dL= toxic |
Ethanol
|
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treat other alcohols with
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Ethanol
|
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alcohol testng
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ADH method
measure abs pos for Ethanol, neg/low for methanol and isopropanol |
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OG
incr ____ for every 60mg/dl of Ethanol |
10 mOsm/kg
|
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OG for other than ethanol
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1.86(Na) + glc/18 + Bun/2.8 + ETOH/5
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toxic at 300 mg/dL
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Ethanol
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toxic at 200 mg/dL
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Isoprpanol
|
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toxic at 50 mg/dL
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Methanol and EG
|
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incr osmol
normal pH no acetone |
Ethanol
|
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incr osmol
normal pH acetone pos |
Isopropanol
|
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incr osmol
decr pH |
Methanol
|
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incr og
metab acidosis incr AG oxalate crystals renal impairment |
EG
|
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with carrier gas
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mobile phase
|
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collects cooked particle
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pre column
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oven column
high temp |
liquid stationary phase
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detector
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FID
|
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time form injection of dample to peak vol in FID
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Rt
|
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quantitate peak by
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comapring calibrator peak with sample peak
|
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errors in GLC
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change in flow rate (mobile), oven temp (liquid), volt of FID
|
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alcohol effects from Ethanol
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hypoglycemia if fasting
>ketoacidosis hepatomegaly due to trig accuml from metab of ethanol instead of fa |
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diag of chronic alcohol abuse
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incr plasma uric acid, ggt, and trigs
|
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methanol>
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formaldehyde>formic acid
severe metab acidosis, pancreatic necrosis and visual |
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isopropanol>
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acetone
|
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EG>
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formic acid, glycolic acid, oxalic acid
renal failure |
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poor nutrition in alcoholics >
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decr folate
decr Mg and Ca decr phosphate |
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1 unit of alcohol =
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10 ml ETOH = 8g ETOH
|
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sedative, depressant
Phenobarbital-epilepsy Treatment, aid respiration and cardiac replaced by benzodiazepine (metab is oxazepam) |
Barbituates
|
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opium, morphine, codeine
sleep and pain relief supress CNS, decr resp, coma heroin is metab by liver> morphine and excr by kidneys as glucuronide Treat with Naloxone |
Narcotics
|
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organophosphates
inhibs acetylcholinesterase>effects heart and lungs, cramps, CNS measure isoenzyme. pseudocholine |
Pesticides
|
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CNS stim, blocks dopamine receptors
treats narcolepsy and ADD metab in liver> benzoic acid heart probs if overdose |
Amphetamines
|
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local anesthetic and CNS stim
short 1/2 L metab by cholinesterase > benzoylecognine (inact) excr by kidneys Tox= hyperten and MI confirm with GCMS |
Cocaine
|
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THC
urinary metab = THC-COOH |
Cannabinoids
|
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anesthetic and hallucinogen
violence, seizures, resp, death |
PCP
|
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neonate renal dev
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glomerular and tubular dev over 1st 2 years
GFR is decr in neonates and incr over time poor reabs of water and electrolytes > hemoconc |
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neonate hepatic dev
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> neonatal jaundice
incr total and unconj bili |
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no UDP-G prod > jaundice
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Crigler-Najjar
|
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neonate Endocrine dev
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by Hypothal, pituitary, thyroid/adrenal
primary and secondary probs |
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congenital hypothyroidism
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default in thyroid (primary)
|
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secondary hypothyroidism
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pituitary wont sercrete TSH
|
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neonate adrenal probs
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21-hydroxy def> decr aldosterone and cortisol prod
>hypernatremia and decr glc |
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if TDM is < 2
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the liver metabs slower
|
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if TDM is >2
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liver metabs 2x faster
|
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geriatric changes
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decr water, muscle, bone density, organs fnx
incr lipids (chol and trigs) |
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incr in Geriatric pts
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K
LD CK GGT AST ALP(women) BUN pCO2 Glc TSH uric acid |
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decr in geriatric pts
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albumin
pO2 bili T3 growth hormone CrCl |
|
stays the same in geriatric pts
|
Cl-
free T4 Na insulin pH |
|
TDM and the elderly
elimination probs |
decr renal mass and blood flow
decr GFR > overdose |
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CSF
|
150 ml in adults
prod and reabs at 500 ml/day formation bu ultrafiltrae of plasma and active secr by epithelial membs |
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CSF fnxs
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cushion for brain
maintains constant chem environ removes metab products |
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CSF is
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mostly water
40-70 mg/dl glc .02-.04 protein 280 Na |
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decr glc in CSF with incr lactate
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bact inf
|
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protein in CSF
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incr in inf = blood brian barrier inf
done by electrophoresis incr in prealbumin |
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serous fluids
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pleural
peritoneal pericardial |
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parietal memb
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lines cavity wall
|
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visceralmemb
|
cover organs
|
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disruption of seros fluid > increase in vol> effusion
caused by |
effusion
|
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caused by incr in hydrostatic pressure in pericardial fluid
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CHF
|
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caused by decr oncotic pressure
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hypoprotein
|
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caused by incr capillary perm
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inflamation and inf
|
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systemic disorder that disrupts balance in reg of fluid filtration and reabs btwn serous membs
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transudate
|
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cond that directly involves teh memb of the cavity
infs and malignancies |
exudate
|
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clear
<1.015 spg <.5 protein <.6 LD |
transudate
|
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cloudy
>1.015 spg >.5 protein >.6 LD |
exudate
|
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> 60 chol
fluid:serum chol >.3 fluid:serum bili >.6 |
pleural exudate
|
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caused by cirrhosis/hepatic>transudate
bact inf> exudate serum:ascites albumin >1.1 = transudate |
peritoneal
|
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change in perm of membs due to inf, etc
cardiac compression |
pericardial fluid
|
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clear pericardial exudate
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metab disorder
|
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turbid pericardial exudate
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inf or mailg
|
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milky pericardial exudate
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lymph damage
|
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bloody pericardial exudate
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memb damage
|
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incr bloody pericardial exudate
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cardiac punct
|
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TP
|
TP(fluid)/TP(serum)
|
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LD
|
LD(fluid)/LD(serum)
|
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TP <.5 and LD <.6
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transudate
|
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TP >.5 and LD > .6
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exudate
|
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incr aldosterone
decr renin incr bp decr K > incr pH adrenal tumor incr Na (incr water) > incr bp |
Conn's
primary hyperaldost |
|
decr TSH, testosterone, T4, FSH, LH
incr prolactin a.p. tumor |
Prolactinoma
hypothal tumor (tertiary) |
|
decr K, caused by incr aldosterone due to 11beta def
incr glc, pH, HCO3, cortisol incr ACTH tumor on pit or in lungs |
Cushings
secondary (a.p.) |
|
chronic pheumonia
incr sweat cl P. aeruginosa in sputum confirm with RFLP |
CF
|
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incr trips
incr temp decr bp incr neuts incr chol, trigs decr HDL incr Amylase, lipase, CRP incr Na, Ca decr K |
Pancreatitis
|
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decr Cl, HcO3, pCO2, pH
incr BUN,Osmol pos for ketones OG and AG incr |
Salicylate
|
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incr bp, pulse, resp rate
incr CO2, glc, VMA (due to incr catecholamines) decr Na, Cl, CK headache, diaphoresis, palpitations |
Pheochromocytoma
|
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AF
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ultrafiltrate of moms plasma
has plasma values for electrolytes, urea, cr |
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mature AF
|
incr urea, uric acid, and CR
incr pulmonary lipids incr protein and hormones 300-1500 ml |
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low AF level
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oligohydraminos
|
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incr AF
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polyhydraminos
|
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HDN
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monitored by AF A450
incr bili in af > fetal anemia> erythropoiesis> incr unconj bili due to incr conj by liver |
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meconium spectro
|
peak at 400-405 nm
|
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hgb spectro
|
peak btwn 400-450
|
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liley chart
|
compares A450 to determine intrauterine hemolysis
zone III is worst |
|
can be given to delay birth
|
cortisol
|
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PG
|
>2 mg/l = low risk for RDS
|
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amniotic surfactant to albumin ratio
|
>50 = mature
|
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storage form of surfactant
count= surfactant present >30000 = mature <10000 = RDS |
LBC
|
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ONTD
|
spina bifida
encephalocele anencepha |
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neural tube doesnt close
spinal fluid seeps into AF and gets absorbed into moms plasma |
spina bifida
|
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protrusionof brain through abn opening in neural tube
|
Encephalocele
|
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fetus doesnt devl a cerebrum
|
anenecepha
|
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ONTD detected by
|
incr AFP by babies liver
in moms plasma |
|
in second trimester
transport protein sim to albumin transports subs that arent water sol (steroid hormones, vitamins, libids, bili) large mol weight |
AFP
|
|
result reported in MOM = how many times normal
<2 MOM is normal incr in 90% of ONTD folic acid def |
amniotic fluid AFP
|
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trisomy 21
congen heart probs retardation facial profile decr MSAFP, unconj estriol incr chorionic gonadotropin def test is fetal karyotyping |
Down synd
|
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> ONTD and death
same results of DS def test is karyotyping |
Trisomy 18
|
|
formed btwn amniotic sac and uterine wall
detect in moms cervix negative = delivery is unlikely pos = delivery soon |
fetal fibronetin
|
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aa def
in liver |
tyrosinemia
|
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test for alkaptonuria
|
urine will be dark upon standing or with an added base (alkaline urine)
|
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GALT def
def of G-1-P-U |
Galactosemia
|
|
Screening for DOA
|
is 1st step
qualitative immunoassay |
|
confirmation for DOA
|
use a different method
specific and sensitive |
|
CO is measured
|
spectro at 4-7 lambdas
|
|
IS
|
corrects for probls in GLC
pure liquid not in sample |
|
in pesticides
binds protiens cleared through renal gi sympts |
Arsenic
|
|
organic
inhalation or ingestion kidney, gi, neuro treat with chelators and peninilamine |
Mercury
|
|
Paint and soil
Inhibits enzymes Effects vit D metab Causes change in bone and Ca metab Decr conc of 25-hydroxy and 1-25 dyhydroxy Vit D Decr Heme synthesis Incr urinary ALA Basophilic stippling Treat with chelators and penicillamine |
Lead
|
|
How Lead effects heme synth
|
inhibs PBG synthase and ferrochelatase
> incr ALA and protoporphyrin >incr Zinc in RBCs |
|
Ability of surfactants to prod foam with addition of ethanol
|
FSI shake test
|
|
At puberty
|
GnRH decr and no longer inhibs FSH and LH
Males prod incr androgens and females prod incr progesterone and estrogen |