My Notes Fa13 Part 1

Front 1

BS

Back 1

NADA

Front 2

Tx for enuresis

Back 2

Imipramine - decreases N3/REM sleep (p.61)

Front 3

What hormones released w/ circadian rhythm?

Back 3

ACTH, Prolactin, Melatonin, NE (p.62)

Front 4

Stages of sleep?

Back 4

BATS Drink Blood (Beta,Alpha,Theta,Sleepspindles, Delta,Beta) (p.62)

Front 5

BMI formula

Back 5

BMI = wt / ht* ht (p.63)

Front 6

APGAR

Back 6

Appearance, Pulse, Grimace, Activity, Respirations (p.59)

Front 7

Ethics - when withold info from pt?

Back 7

NEVER REQUIRED when a family asks to withhold dx info (p.57)

Front 8

When is a <18yo emancipated?

Back 8

Has children, In military, self-sufficient, Married (p.57)

Front 9

When is OR most similar to RR?

Back 9

When Prevalence of dz is low. Think A/B vs. A/A+B when B goes to zero (p.52)

Front 10

How choose cohort pts?

Back 10

Cohort Choose based on risC faCtors and monitor if dz occurs (p.50)

Front 11

What are reportable dzs?

Back 11

STD, TB, Hepatitis, Food poisoning (p.57)

Front 12

Exceptions to confidentiality?

Back 12

Reportable dzs, Child/elder abuse, Detailed or planned harm to self or others, Impaired auto drivers, Gunshot/Stabbings (p.57)

Front 13

Who is surrogate decision maker?

Back 13

Spouse > Adult children > Parents > Adult siblings > relatives (p.57)

Front 14

What componets to decision making capacity?

Back 14

Legal & psychological & communicate (p.57)

Front 15

When don’t need parent consent?

Back 15

Emergency, prescribe contraceptives, tx of STD, medical tx during pregnancy, tx drug addiction

Front 16

Abortion obligations

Back 16

Must inform parents, though decision to keep is child's!!! (p.56)

Front 17

What is most important ethical principle?

Back 17

Autonomy - informed consent then let them decide (p.56)

Front 18

When eligible medicare?

Back 18

>65y, ESRD, certain disabilities (p.56)

Front 19

When use chi square test

Back 19

Categorical, otherwise use T test/ANOVA (p.55)

Front 20

Describe confidence interval

Back 20

Uses multiples of SEM (+2 and +2.5 for 95% and 99% groupings) (p.55.3)

Front 21

What mean when CI crosses zero?

Back 21

If Z is 95% (+/-2SEM) then NOT SIGNIFIGANT (p.55)

Front 22

3 factors of Power

Back 22

High N value, Effect size expected, Precision of measurement (p.55)

Front 23

P Value

Back 23

Probability that commited alpha error (5% chance wrong is standard) (p.54)

Front 24

Eqn for SEM

Back 24

SEM = SD/ sqrt (N) (p.54)

Front 25

Property of Mode

Back 25

Mode is Most resistant to skew

Front 26

Where is the tail of + skew?

Back 26

large numbers to the right or more +

Front 27

Atributal risk if 7X more likely death?

Back 27

Death = 7-1/7 (86% AR) or (RR-1/RR) (p.52)

Front 28

Risk square order?

Back 28

Left top right then second row left to right (A->D) (p.52)

Front 29

Berkson's bias

Back 29

lost to follow up, subtype selection bias (p.53)

Front 30

Late look bias

Back 30

info gathered at inappropriate time (post mortem) (p.53)

Front 31

Property of Mode

Back 31

Subjects are treated different, experimental group adheres better (p.53)

Front 32

Pygmalion effect?

Back 32

Observer expectancy. Prevent w/ double blind (p.53)

Front 33

Hawthorn effect?

Back 33

pts change behavior when known are being watched (p.53)

Front 34

When PPV highest?

Back 34

when pre test prob is high, prevalence is high (p.51)

Front 35

Attributes of sensitivity?

Back 35

Left 50% table, Near 1 when no FN (p.51)

Front 36

Attributes of specifity?

Back 36

Right 50% of table, near 1 when no FP (p.51)

Front 37

Be sensitive before specific?

Back 37

Screening then Confirmatory test

Front 38

Table for (Dz*Test) and (Beta finding*actual) (p.51)

Back 38

NADA

Front 39

Questions asked in phase studies?

Back 39

Safe, Work, Better, Rare SE (monitoring in phase4) (p.50)

Front 40

Developmental Milestones???

Back 40

p.59

Front 41

BCH

Back 41

NADA

Front 42

Steps translation?

Back 42

going APE - A AminoAcyltRNA Acceptor, P Peptide synthesis, E Exits (p.73)

Front 43

How choose ribosomal Abx targets?

Back 43

always prOkaryOte and Odd #; 30s+50s=70s (p.73)

Front 44

what is carrying seq tRNA?

Back 44

CCA on 3' end of the 80NT clover leaf; Can Carry Aminoacyls (p.72)

Front 45

What makes spliceosome/and fx?

Back 45

made of multiple snRNPs & fx is remove lariats (p.71)

Front 46

snRNP Ab?

Back 46

Lupus (p.71)

Front 47

What is poison in mushroom?

Back 47

alpha-amantin phallodes blocks RNA poly 2 located in nuclear plasma. Sx is hepatoxicity (p.70)

Front 48

Where is location of a promoter on sequence?

Back 48

right before coding sequence; -25 TATA; -75 CAAT (p.70)

Front 49

Where are enhancers located on sequence?

Back 49

located anywhere (p.70)

Front 50

What are stop codons?

Back 50

UGoAway; UAreAway; UAreGone (p.70)

Front 51

How keep synthesis direction correct of DNA and protein?

Back 51

5 (Five) to 3 (three): N to C (p.69)

Front 52

Where are Phosphates on NT?

Back 52

5' has tri(P) that is attacked by 3' OH (p.69)

Front 53

What is mutation in Ataxia Telengiectasia?

Back 53

dsDNA break both strands enzyme. Important VDJ recombinationb (p.69)

Front 54

What is HNPCC and mutation?

Back 54

Heriditary Non Polyposis Colorrectal Cancer - mutation in mismatch repair enzyme on a ssDNA post DNA synthesis (p.69)

Front 55

What is mutation in Xeroderma Pigmentosum?

Back 55

Nucleotide excision repair ssDNA repair enzyme mutation. More susceptible to pyrimidine dimers and melanoma (p.69)

Front 56

DNA ligase?

Back 56

Joins Okazaki fragments (p.68)

Front 57

DNA polyermase 3 qualities?

Back 57

nEEds RNA primase to begin synthesis 5'->3' (p.68)

Front 58

DNA polymerase 1 qualities?

Back 58

First thus able to handle more challenging lagging strand with NNOO RNA primers. Has special 5'->3' exonuclease which is same direction as synthesis (p.68)

Front 59

Nonsense mutation?

Back 59

STOP the NONESENSE - premature stop codon (p.67)

Front 60

Enzyme deficient in Lesch Nyhan?

Back 60

HGPRT - He's Got Purine Recovery Trouble (p.66)

Front 61

Adenosine Deaminase Deficiency?

Back 61

No DNA synthesis, few lymphocytes #, leads to SCID in KIDs (p.66)

Front 62

MTX ?

Back 62

Human version of TMP (p.65)

Front 63

Hydroxyurea ?

Back 63

blocks ribonucleotide reductase (use4SCD) (p.65)

Front 64

6-MP ?

Back 64

blocks de novo purine synthesis (p.65)

Front 65

5 FU ?

Back 65

Inhibits thymidylate synthetase: blocking only DNA synthesis (p.65)

Front 66

What does ribonucleotide reductase do?

Back 66

Makes RNA -> DNA (p.65)

Front 67

What is CPS 2 ?

Back 67

Cytosol, pyrimidine synthesis, N is from Glutamine (p.65)

Front 68

What is structure of PRPP ?

Back 68

pentose w/ 2(P) on 1' and 1(P) on 4' location (p.65)

Front 69

Ornithine transcarbamoylase deficiency ?

Back 69

Block results in elevated Orotic Acid + Hyperammonia + Carbamoyl(P) (p.65)

Front 70

Orotic Aciduria

Back 70

UMP synthetase deficiency; Increased Orotic Acid + Megaloblastic anemia + Normal urea cycle (p.65)

Front 71

Rate limiting pyrimidine synthesis ?

Back 71

CPS 2 that produces Orotic Acid

Front 72

Purine Synthesis steps ?

Back 72

Rib5P -> PRPP -> IMP (p.65)

Front 73

6MP ?

Back 73

PRPP synthetase inhibitor in purine synthesis (p.65)

Front 74

What AA are needed for purine synthesis?

Back 74

GAG - Glycine, Aspartate, Glutamine (p.64)

Front 75

Methylation DNA?

Back 75

Methylation = Muted gene and located peripherally (p.64)

Front 76

Acetylation DNA

Back 76

Acetyl = Active and near central location (p.64)

Front 77

Where is H1 located?

Back 77

Only histone NOT in nucleosome (+) charged octomer (p.64)

Front 78

Signifigance of FISH?

Back 78

detects molecular defects in karyotype (p.81)

Front 79

Karyotype ?

Back 79

Detects chromosomes in metaphase via staining & putting in order for trisomies/sex chromosome disorders (p.81)

Front 80

ELISA - direct ?

Back 80

Direct looks for Ag using Ab (p.80)

Front 81

ELISA - indirect ?

Back 81

Indirect looks for Ab using Ag (p.80)

Front 82

SNPs?

Back 82

single nucleotide polymorphisms detected gene chips (p.80)

Front 83

Blot types?

Back 83

SNoW DRoP. SW looks for transcription factor proteins that bind DNA (p.80)

Front 84

Elastin defects ?

Back 84

Marfan-fibrillin defect; Emphysema-damage from elastase (p.79)

Front 85

Collagen defects ?

Back 85

(ALL VOWELS OOEA) OI1 - type 1 defect; OI2-type 2 defect; EDS-type 3 defect; Alport-type 4 defect (p.79)

Front 86

PCR steps ?

Back 86

DnA'Ed - denature (heat), annealed (cool), elongated(replicate). (p.79)

Front 87

Use of PCR ?

Back 87

Paternity test for fingerprint region expansion (p.79)

Front 88

DiGeorge mnemonic ?

Back 88

CATCH-22 (34); Cleft palate, Abnormal facies, Thymic aplasia (no t cells), Cardiac defect, Hypoglycemia (No PTH glands), 22q11 defect, 3/4 branchial pouches effected. (89)

Front 89

Williams Disease mnemonic ?

Back 89

WILL Ferrel in movie ELF; WILLiam's dz, ELVin facies, extreme FRIENDLINESS (actor seems to be), defect is in Elastin (p.89)

Front 90

Mutation and sx in Cri-Du-Chat ?

Back 90

pQ5 deletion, high pitched mew/cry (p.89)

Front 91

What is acrocentric and numbers ?

Back 91

Imbalanced chromosomes short/long arms. 13,14,15,21,22 are these numbers. (p.88)

Front 92

MCC cause mentral retardation ?

Back 92

Trisomy 21, Meosis 1 nondisjunction chromosome 21 resulting in apoptotic problems (p.88)

Front 93

What are values in quad screen for trisomy 21 ?

Back 93

Low alpha feto, High betaHCG, Low estriol, High Inhibin A (p.88)

Front 94

What dzs are A/W Trisomy 21 ?

Back 94

High risk ALL, High risk Alzheimer, High risk AML (p.88)

Front 95

Mnemonic trinucleotide repeat dzs ?

Back 95

"TRI HUNTING for MY FRIED X "; Fragile X, FFRIEDrichs ataxia, HUNTINGton's, Myotonic dystrophy (p.87)

Front 96

The sequences for each trinucleotide repeat ?

Back 96

X Girlfriends First Aid Helped Ace My Test: fragile X- cGc; Friedrichs-gAa; Huntington-cAg; Myotonic dystrophy-cTg (all have pattern CxG except friedrischs ataxia) (p.87)

Front 97

2nd MCC of mental retardation ?

Back 97

Fragile X synndrome; abnormal methylation/expression of the FMR1 gene (p.87)

Front 98

Mnemonic for S/S Fragile X ?

Back 98

Xtra-large testes/jaw/ears (p.87)

Front 99

Type mutation Duchennes ?

Back 99

Frameshift (severe mutation). Beckers is more mild mutation Dystrophin gene(p.86)

Front 100

Assoc. S/S of Muscular dystrophy ?

Back 100

Cardiac myopathy (p.86)

Front 101

DDx of Polymyalgia Rheumatica ?

Back 101

Duchennes/Beckers - both have central muscle weakness; mPR has elevated serum CK but Duchennes/Beckers does not (p.86)

Front 102

Mnemonic for X linked Recessive diseases ?

Back 102

Be Wise Fools GOLD Heeds Silly Hope (p.86)

Front 103

Be Wise Fools GOLD Heeds Silly Hope

Back 103

Brutton's agammaglobinemia, Wiskott aldrich, Fabry's, G6pd, Occular albinism, Lesch nyhan, Duchennes, Hunter's syndrome, Hemoglobin A/B, Ornithine Transcarbamoylase deficiency (p.86)

Front 104

Prob in CF ?

Back 104

Abnormal ion channel protein folding resulting in degradation (p.86)

Front 105

Nasal Polyps ?

Back 105

Assoc. with CF (p.86)

Front 106

N-Acetylcysteine tx and MOA ?

Back 106

For CF it cleaves disulfide bonds in mucous glycoproteins; Also add Fat soluble vitamin supplements. Also used in Acetaminophen OD (p.86)

Front 107

Autosomal Recessive dz types ?

Back 107

Mostly enzymatic but a few structural (p.86)

Front 108

Enzymatic auto recessive dzs ?

Back 108

Albinism, Glycogen storage, Mucopolysaccharides, PKU, Sphingolipidoses, Galactosemmias (p.86)

Front 109

Other autosomal recessive dzs ?

Back 109

ARPKD, CF, Hemachromotosis, Thalassemias, SCD (p.86)

Front 110

Autosomal Dominant dzs ?

Back 110

often these are structural/messenging function/tumor suppressor type proteins (p.85)

Front 111

Mnemonic Prader Willi/Angelmans ?

Back 111

MAMA & POP; Maternal genes, Angelmans, Mood elevated, Ataxia & Prader wili, Overeating/Obesity, Paternal gene deletion (p.83)

Front 112

Describe Heteroplasmy ?

Back 112

.+/- mutated mtDNA based on random ratio mom gives to offspring. Variable expression (p.82)

Front 113

Pleiotropy ?

Back 113

Poly Phenotypes with Pleiotropy (p.82)

Front 114

Compare Locus Heterogeniety to Pleiotropy ?

Back 114

LH - mutations MULTIPLE sites leads to SAME phenotype. Pleiotropy - MULTIPLE phenotypes from SAME mutation (p.82)

Front 115

Anticipation

Back 115

all tri dzs (p.82)

Front 116

Imprinting demonstrates what ?

Back 116

That mom/dad's genes are differentially methylated and thus same deletion can result different dzs (p.82)

Front 117

S/S of mitochondrial dzs ?

Back 117

Ox Phos prob that results in ragged fiber appearance (p.84)

Front 118

Dzs of heteroplasmy ?

Back 118

Leber Heriditary Optic, Leigh's dz (p.84)

Front 119

Father's affected and all daughters have dz ?

Back 119

X linked dominant. Only 2 dzs: Hypophosphatemia rickets, PDH deficiency (p.84)

Front 120

Carrier rate calculation ?

Back 120

Carefull as demoniator does NOT include XX diseased person. Thus 2/3. (p.83)

Front 121

Hardy Weinberg ?

Back 121

p^2 + 2pq + q^2 = 1, p + q = 1. (p.83)

Front 122

Frequency X linked dz-Hardy Weinberg ?

Back 122

Males = q, Females = q^2 (p.83)

Front 123

2pq represents what ?

Back 123

frequency of heterozygosity (p.83)

Front 124

Similarities Goodpasteurs/Alports ?

Back 124

Involve basement membrane lung/kidney. Alport - synthesis defect; Goodpasteur's - Ab attacks. (p.79)

Front 125

Defect Osteogenesis Imperfecta ?

Back 125

No glycosylation of pro alpha chain. Thus cannot form procollagen (triple helix) (p.78)

Front 126

Difference collagen/elastin ?

Back 126

No OH in elastin but have similar AA composition (p.79)

Front 127

What causes skin aging ?

Back 127

Low elastin, low collagen productions result in wrinkles (p.79)

Front 128

Marfan's dz ?

Back 128

Defect in elastin (fibrillin) that made in fibroblast. Abe Lincoln was shot before his Aortic Aneursym (p.79)

Front 129

alpha1 antitrypsin defect ?

Back 129

Fx-inhibits elastase and when active elastase=overactive; Panacinar-heriditary (hepatomegaly); Centroacinar-smoking (p.79)

Front 130

S/S Alport dz ?

Back 130

Can see, pee, hear me; type 4 collagen = progressive dz: nephritis, deafness, lenticonous. (p.79)

Front 131

S/S EDS ?

Back 131

A/W jt dislocation, organ rupture, berry aneursym. (p.78)

Front 132

DDx for child abuse ?

Back 132

Osteogenesis Imperfecta T1; defect collagen 1. (p.78)

Front 133

Child born w/ multiple fractures, dental imperfections, conductive hearing loss, blue sclera and lives; dx ?

Back 133

since lived, Osteogenesis Imperfecta 1 (p.78)

Front 134

BCH defect in OI ?

Back 134

glycosylation OH-Lysine - No triple helix formed (p.78)

Front 135

BCH defect in Ehlers Danlos ?

Back 135

No peptide cleavage, no x-link (Lysine-OH-Lysine). Process requires Cu2+ (p.78)

Front 136

Scurve ?

Back 136

No Vit C -> no hydroxylation of proline/lysine in RER (p.78)

Front 137

Structure collagen ?

Back 137

Gly-X-Y (proline, lysine) (p.78)

Front 138

Glycine

Back 138

small AA that allows bending in alpha helix (p.78)

Front 139

Proline

Back 139

provides twist to alpha helix (p.78)

Front 140

Mnemonic direction Na/K ATPase ?

Back 140

HIKIN - HI K Inside the cell. So pumps 2 into cell and 3 Na out (p.77)

Front 141

Result and drug inhibits Na/K ATPase ?

Back 141

Cardi8ac Glycosides; Inhibits Na/Ca exchanger -> Hi[Ca]in -> More cardiac contractility. Used for A Fib + CHF (p.77)

Front 142

Oubain/digoxin/digitoxin ?

Back 142

Cardiac glycosides - inhibit Na/K ATPase (p.77)

Front 143

IF Stain Vimentin

Back 143

Connective tissue - sarcomas (p.76)

Front 144

IF Stain Desmin

Back 144

Muscle - rhabdomyosarcoma & leiomyosarcoma (p.76)

Front 145

IF stain cytokeratin ?

Back 145

epithelial - carcinoma (p.76)

Front 146

IF stain GFAP ?

Back 146

neuroGlia - astrocytoma & GBM (p.76)

Front 147

IF stain Neurofilamant ?

Back 147

Neurons - adrenal neuroblastoma (p.76)

Front 148

Composition Cilia, flagella, mitotic spindle, neurons, centrioles ?

Back 148

microtubules (p.76)

Front 149

MOA Mebendazole ?

Back 149

MT blocker. No more "bend"ing for these helminthic worms (p.76)

Front 150

Cholesterol membrane ?

Back 150

Decreases fluidity, more thermophiles (p.76)

Front 151

S/S Chediak-Higashi Syndrome ?

Back 151

Recurrent infections, partial albinism, peripheral neuropathy (p.76)

Front 152

Defect in Chediak Higashi ?

Back 152

LYST mutation - endosomal sorting protein (p.76)

Front 153

Mt motor orientations/dz mnemonic ?

Back 153

DR Negative has Kartagener's. DR-Dynein moves Retrograde towards Negative pole MT. Defective in Kartageners. (p.76)

Front 154

Proteosome fx ?

Back 154

Degrades proteins - ubiquintin labled, damaged (p.75)

Front 155

Peroxisome fx ?

Back 155

VFLA, AA metabolism. VFLA accumulate Liver. (p.75)

Front 156

Endosome fx ?

Back 156

Entering cell to Golgi, opposite direction secretory vesicle (p.75)

Front 157

Vesicular trafficking ?

Back 157

ER - (COP2/1)--> Golgi - (Clathrin)--> Plasma membrane (p.75)

Front 158

I Cell Dz ?

Back 158

Lysosomal storage - No mannose 6P to put enzyme to lysosome rather then excretion. Labs show elevated serum lysosomal degradative enzymes (p.75)

Front 159

SER fx mnemonic?

Back 159

enDoPlaSmic: Detox rxs/poisons, Phospholipid synthesis, Steroid Synthesis. Rich in P450 cells, gonads, adrenal cortex (p.74)

Front 160

Free ribosomes ?

Back 160

Synthesize cytosolic, organellar proteins (p.74)

Front 161

Fx of RER ?

Back 161

Synthesis: secretory/integral membrane proteins and enzymes. (p.74)

Front 162

Fx of NiSSL ?

Back 162

in RER of neuron. Makes Choline Acyl-transferase/Neurotransmitters. (p.74)

Front 163

2 cells rich RER ?

Back 163

Plasma cells - Ab secrete; Goblet cells - Mucous. (p.74)

Front 164

Labile cell ?

Back 164

Never enters G0 phase. (p.74)

Front 165

Permenant cell ?

Back 165

Cannot leave G0 phase; Include cardiac/SKM/Neuron/RBCs (p.74)

Front 166

Cell cycle order ?

Back 166

G0 -> G1 -> S -> G2 -> M phase (p.74)

Front 167

Where 2 hit regulate in cell cycle ?

Back 167

2 hit rule for Rb/P53 which regulates G1-> S phase (p.74)

Front 168

What CDKs ?

Back 168

Regulates cell cycle via regulator (P53/Rb) Phosphorylation/dePhosphorylation (p.74)

Front 169

How does amt material G1 vs. G2 compare ?

Back 169

G2 has 2X as much material since post S phase (p.74)

Front 170

Mnemonic for cell cylce regulators ?

Back 170

Can Control The Cell: CDK, Cyclin, Tumor suppressor, Cyclin-CDK complexes (p.74)

Front 171

Dzs w/ marfinoid habitus ?

Back 171

Marfans, MEN 2B, homocystinuria (p.82)

Front 172

What only take 1 hit for cancer ?

Back 172

Oncogene single mutation. 2 for tumor suppressor. (p.82)