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65 Cards in this Set
- Front
- Back
Gaucher disease defficiency |
glucocerebrosidase |
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Niemann Pick defficiency |
sphingomyelinase |
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Tay Sachs defficiency |
Hexosaminidase A |
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Surfactant |
Produced by Type II alveolar pheumocytes
Reduces surface tension |
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3 lung maturity tests |
Lamellar bodies phosphatidyl glycerol Lechtin:Sphingomeylin ratio |
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Hepatic encapathy |
patient passed out because of an ammonia build up |
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Maple Syrup Urine Disease (MSUD) |
Defect in branched chain amino acid metabolism
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Branched chain amino acids |
Valine Leucine Isoleucine |
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Disorder in metabolism of phenylalanine
blonde hair, blue eyes, mental retardation |
PKU Phenylketonuria
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Structure of proteins |
Primary--Chain of amino Acids Secondary--Alpha helix or Beta pleated sheet Tertiary--Mix of Alpha and Beta Quarternary --Mix of two or more tertiary structures |
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Liver Function tests |
Albumin, PT, PTT, AST, ALT, ALP, GGT |
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Biuret Test |
quantifies the number of peptide/amide bonds
need at least two bonds |
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Negative acute phase reactants |
Albumin, preAlbumin, Transferin |
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Serum protein electrophoresis conditions |
pH 8.6 Agarose Gel |
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Albumin function |
maintains oncotic pressure
retains water in the capillaries
Negative charge at normal pH
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Albumin normal range |
3.5-5.5 g/dL |
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Prealbumin |
Marker for nutrition
half life is 3 days
shows up before albumin on SPEP |
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Hypoalbuminemia causes |
liver disease, malnutrition, nephrosis, cancer, burns |
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Albumin testing |
Dye binding using BCG or BCP |
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Critical value for Albumin |
Below 2g/dL, patient is in lung failure |
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Alpha 1 Anti Trypsin deficiency |
Young patients will get emphysema
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Alpha fetal protein increase |
Open neural tube defects
spina bifida
high in pregnant women |
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Alpha fetal protein decrease |
Downs (trisomy 21)
Edwards (incompatible with life) |
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Ceruloplasma |
found in Alpha 2 zone on SPEP
Patient serum is blue
carries copper |
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Nephrosis |
increased alpha 2 peak |
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Chronic inflammation |
staircase effect
Albu is low, gamma is high
caused by sarcoid, TB
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Chronic liver failure |
Beta-Gamma bridge Increased IgA--leads to the bridge |
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Multiple Myeloma SPEP |
M spike in gamma region
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Multiple Myeloma |
Plasma cell dysplasia
Tumors in bone and axial skeleton (punched out holes)
M protein--produces one immunoglobulin with one light chain |
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MGUS
monoclonal gammopathy of uncertain significance |
smaller spike in the gamma region than multiple myeloma
NO BACKGROUND SUPPRESSION OF THE GAMMA REGION |
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What do enzymes do |
Lower activation energy |
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Zero Order kinetics |
No matter how much substrate you add, the reaction doesnt go any faster |
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First order kinetics |
goes faster with more substrate |
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Competitive inhibition |
binds at active site, directly competes
Same Vmax, but gets there slowly |
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noncompetitive inhibition |
binds at site, other than active site
lowers Vmax |
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Calcium oxolate crystals in the urine |
due to drinking antifreeze |
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Liver enzymes |
AST, ALT, ALP, GGT, LDH |
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Heart enzymes |
CPK, LDH |
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Pancreas |
Amylase, Lipase |
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Transaminases |
Transfer amine groups from amino acids to alpha keto acid groups
if AST is increased, ALT is needed to confirm liver problems |
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Cholestasis |
Bile cannot leave the liver
either cannot leave the bile ducts(extrahepatic) or hepatocytes(intrahepatic)
PT ends up jaundice |
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Cholestasis causes |
Gaul stones Anabolic steroids Birth control (potential for blue serum) |
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GGT |
marker for alcoholism
elevated in hepatitis and cholestasis
specific for the liver |
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ALT |
Specific to the liver |
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AST |
marker for liver damage, but is not specific to just the liver |
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PT, PTT |
all clotting factors are made in the liver (except Fc8)
increased in cirrhosis
tests for synthetic capacity of liver |
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Albumin |
decreased in cirrhosis
negative acute phase reactant |
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ALP |
Cholestasis if increased, not specific for the liver though
if GGT is normal, problem is not in the liver
also found in growing kids, placenta, intestine |
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Most common hepatotoxin |
Tylenol |
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Amylase |
Good sensitivity, poor specificity
can be measured in the urine for days after |
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Lipase |
good sensitivity and specificity
HIGHEST SPECIFICITY FOR PANCREATITIS
Stays elevated in the serum longer (~1 week) |
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Location of the pancreas |
retroperitoneal cavity |
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statorrhea |
fat globules in the stool
found in pancreatitis
sudan III stain--stains fat |
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Alcoholic pancreatitis |
Alcohol keeps enzymes in the pancreas-->opening of the panceras closes-->Pancreas digests itself-->Blows up-->digests everything else-->digests lungs-->Dead |
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Myocardial infarction
MI |
90 minutes
25% of cases need chemical diagnosis |
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C reactive protein
CRP |
surrogate marker for atherosclerosis |
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intercollated disks |
connect cardiac myocytes |
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Myoglobin |
similar to hemoglobin, higher affinity for O2
early marker for MI, poor specificity |
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Troponin |
Protein associated with actin and myosin movement
Specific and early for MI
Stays elevated for 6-7 days
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CK-MB |
Specific but late for MI
3 isoforms (CK-BB, CK-MB, CK-MM) |
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BNP
Brain Naturietic Peptide |
Marker for heart failure
counter balances RAAS, pee's out excess sodium
produced by stretched myocytes |
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ectopic enzyme production |
a tissue that normally doesnt produce the enzyme (CK) will produce it
Produced enzyme (CK) at a constant level ^differentiates it from MI ^^Happens in prostate cancer |
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Troponin isoenzymes |
Troponin I,T,C
C is not used
AMC uses Troponin I Troponin T is also used |
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Lactate dehydrogenase
LDH |
Found everywhere, especially RBCs
5 isoenzymes (1,2,3,4,5)
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LD flip |
LD 1 is greater than LD2 |