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PP (BQ, Genetics,GI, IM, Flashcards

0
Q

What is the tale limiting enzyme in the TCA cycle?

A

Isocitrate dehydrogenase

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1
Q

What is the rate limiting enzyme in cholesterol synthesis?

A

HMG CoA reductase

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2
Q

What is the rate limiting enzyme in pyrimidine synthesis?

A

CPS- II carbamoyl phosphate synthase II

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3
Q

What is the rate limiting enzyme in Purine synthesis?

A

Glutamine-PRPP amidotransferase

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4
Q

What are the anabolic and catabolic pathway?

A

“HUG”

  • Heme synthesis
  • Urea cycle
  • Gluconeogenesis
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5
Q

What is the rate limiting enzyme in Heme synthesis?

A

Delta ALA synthase

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6
Q

What is the rate limiting enzyme in Urea cycle?

A

CPS-I carbamoyl phosphate synthetase 1

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7
Q

What are the anabolic pathway that store energy?

A 
Cytoplasm 
"EFGH" 
- ER
- Fatty acid synthesis
- Glycolysis
- HMP shunt
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8
Q

What are the catabolic pathway that create energy?

A 
Mitochondria
"ABC"
- AcetylCoA production
- Beta-oxidation
- Citric acid cycle
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9
Q

What does hydrolase do?

A

Breaks a bond with water

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10
Q

What is active transport?

A

Goes against concentration gradient

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11
Q

What does a Dehydrogenase do?

A

Removes H with a cofactor

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12
Q

What does a Thio do?

A

Breaks S bonds

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13
Q

What is Potency?

A

Amount of drug needed to produce effect (lower w/comp antagonist)

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14
Q

What is Von Gierke?

A

G-6Pase deficiency => hypoglycemia, hepatosplenomegaly

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15
Q

What is the T1/2?

A

Half life, the time it takes for the body to use half of the drug ingested

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16
Q

What is Cori’s?

A

Debranching enzyme deficiency => short branches of glycogen

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17
Q

What is Pompes?

A

Cardiac Alfa 1,4-glucosidase deficiency => DIE early

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18
Q

What is McArdle’s?

A

Muscle phosphorylase deficiency => muscle cramps with exercise

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19
Q

What is Anderson’s?

A

Branching enzyme deficiency => long chain of glycogen

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20
Q

What is Fructosemia?

A

Fructose intolerance (aldolase B deficiency) => liver damage

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21
Q

What does a Galactokinase deficiency cause?

A

Cataracts

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22
Q

What Galactosemia cause?

A

Cataracts
MR
Liver damage

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23
Q

What the Citratae shuttle do?

A

FA transport out of the mitochondria

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24
Q

What is Essential Fructosuria?

A

Fructokinase deficiency => excrete fructose ( still have hexokinase)

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25
Q

What does the Carnitine shuttle do?

A

FA transport into the mitochondria

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26
Q

What lysosomal disease have a Gargoyle-face?

A

Gaucher’s

Hurler’s

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27
Q

What is Tay-Sachs?

A

Hexosaminidase A deficiency => blindness, incoordination, dementia

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28
Q

What is Sandhoff’s?

A

Hexosaminidase A/B deficiency ( severe form o Tat-Sachs )

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29
Q

What is Niemann-Pick?

A

Sphingomyelinase deficiency => zebra bodies

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30
Q

What is Gaucher’s?

A

Glucocerebrocidase deficiency => wrinkled tissue, MP, bone pain

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31
Q

What is Fabry’s?

A

Alfa- galactosidase deficiency => corneal clouding, attacks baby’s kidneys, X-linked

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32
Q

What lysosomal disease have a cherry-red macula?

A

Tay-Sachs
Niemann-Pick
Sandhoff’s

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33
Q

What is Krabbe’s?

A

Beta-galactosidase deficiency => globoid bodies

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34
Q

What is Metachromatic Leukodystrophy?

A

Arylsulfatase deficiency => childhood MS

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35
Q

What is hunter’s?

A

Iduronidase deficiency, milder form

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36
Q

What is Hurler’?

A

Iduronidase deficiency, worse form

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37
Q

What is Lesch-Nyhan?

A

HGPRT deficiency => defect of the salvage pathway
Finding: gout, neuropathy, self-mutilation, aggression, retardation, hyperuricemia
X-linked

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38
Q

What do white diaper crystal suggest?

A

Excess orotic acid

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39
Q

What does biotin donate methyl groups for?

A

Carboxylation

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40
Q

What does the THF donate methyl groups for?

A

Nucleotides

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41
Q

What is a transition?

A

Change 1 purine to another purine

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42
Q

What is de difference b/w Heterrochomatin and Euchromatin?

A

Heterochromatin => tightly coiled (inactive)

Euchromatin => loos 10nm fibers (active)

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43
Q

What does SAM donate methyl groups for?

A

All other reactions
Require for:
- conversion of NE to epinephrine

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44
Q

What are the Pyrimidines?

A

C, U, T

Have a one ring structure

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45
Q

What are the Purines?

A

Adenine, guanine

Have a two rigs structure

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46
Q

What is a point mutation?

A

Changes 1 base

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47
Q

What is a silent mutation?

A

Changes leave the same amino acid

Base change in the 3rd position of codon

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48
Q

What is a transversion?

A

Change 1 purine to a pyrimidine

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49
Q

What is a frameshift mutation?

A

Insert or delete 1-2 bases => result in a nonfunctional protein
Change result in misreading

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50
Q

What is a nonsense mutation?

A

Early stop codon

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51
Q

What does a Southern blot detect?

A

DNA

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52
Q

What is a missense mutation?

A

Mistaken amino acid substitution

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53
Q

What does a Western blot detect?

A

Protein

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54
Q

What are the essential amino acids?

A

” PVT TIM HALL”

  • Phe
  • Val
  • Trp
  • Thr
  • Ile
  • Met
  • His
  • Arg
  • Leu
  • Lys
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55
Q

What are the essential fatty acids?

A

Linolenic

Linoleic

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56
Q

What are the acid amino acids?

A

Asp

Glu

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57
Q

What does a Northen blot detect?

A

RNA

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58
Q

What are the sulfur-containing amino acids?

A

Cys

Met

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59
Q

What are the O-bond amino acids?

A

Ser
Thr
Tyt

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60
Q

What are the N-bond amino acids?

A

Asn

Glen

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61
Q

What are the branched amino acids?

A

Leu
Ile
Val

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62
Q

What are the aromatic amino acids?

A

Phe
Try
Trp

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63
Q

What are the basic amino acids?

A

Lys
Arg
His

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64
Q

What are the ketogenic amino acids?

A

Lys

Leu

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65
Q

What are the glucogenic + ketogenic amino acids?

A

” PITT”

  • Phe
  • Iso
  • Thr
  • Trp
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66
Q

What are the glucogenic among acids?

A

All the res

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67
Q

What amino acids does Trypsin cut?

A

Lys

Arg

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68
Q

What is the smallest amino acid?

A

Gly

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69
Q

What amino acids does beta-ME cut?

A

Cys

Met

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70
Q

What amino acids does chymotripsin cut?

A

Phe
Tyr
Trp

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71
Q

What does Carboxypeptidase cut?

A

Left of any amino acid on the carboxy terminal

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72
Q

What amino acid turns yellow on Nurhydrin reaction?

A

Proline

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73
Q

What amino acids does Acid Hydolysis denature?

A

Asn

Gln

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74
Q

What does CNBr cut?

A

Right of Met

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75
Q

What does Marcaptoethanol cut?

A

Right Cys, Met

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76
Q

What does Elastase cut?

A

Right Gly, Ala, Ser

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77
Q

What does Aminopeptidase cut?

A

Right of N terminus

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78
Q

What does Trypsin cut?

A

Arg

Lys

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79
Q

What does Alfa-AT do?

A

Inhibits Trypsin from getting loose

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80
Q

What does chymotrypsin cut?

A

Phe
Tyr
Trp

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81
Q

What is Albinism?

A

No Try -> Malanin (via tyrosinase)

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82
Q

What is Hartnup’s?

A

No Trp = Niacin + Serotonin

  • presents like pellagra
  • can mimic corn-rich diet
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83
Q

What is Maple Syrup Urine disease?

A

Defective metabolism of branched amino acids ( Leu, Iso, Val)
Amino acids leak out

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84
Q

What is homocystinuria?

A 
No Homocysteine -> Cys: " COLA" stone
Cystine
Ornithine
Lysine
Arginine
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85
Q

What is pellagra?

A

Niacin deficiency

  • Dermatitis
  • Dementia
  • Diarrhea
  • Death
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86
Q

What is PKU?

A 
No Phe -> Try ( via Phe hydroxylase)
Nutrasweet sensitivity
MR
Pale
Blond hair
Blue eyes
Musty odor
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87
Q

What does B5 do?

A

Component of CoA and FA synthesis

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88
Q

What causes lateral leg bowing?

A

Rickets

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89
Q

What are the names of the B vitamins?

A 
B1 - Thiamine
B2 - Riboflavin 
B3 - Niacin
B4 - Lipoic acid
B5 - Pantotemic acid
B6 - Pyridoxine
B7 - Biotin
B9 - Folate
B12 - Cobalamin
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90
Q

What causes anterior leg bowing?

A

Neonatal syphilis

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91
Q

What does B4 do?

A

Glycolisis

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92
Q

What does B1do?

A

Thiamine pyrophosphate ( TPP) coenzyme for: Pyruvate Dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain ketoacid dehydrogenase, transketolase
Findings:
Wet and dire beriberi
Wernicke - ataxia, nystagmus ( post temporal lobe)
Korsakoff - confabulation ( mammillary bodies)

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93
Q

What does B2 do?

A

FAD cofactor
Angular cheloisis
Magenta colored tongue

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94
Q

What does B3 do?

A

NAD cofactor

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95
Q

What does vit A?

A

Night vision
CSF production
PTH

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96
Q

What does B6 do?

A 
Transaminase cofactor (AST/ALT)
Myelin integrity
Deficiency - neuropathy
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97
Q

What dose B9 do?

A

Nuclear division

Purine synthesis

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98
Q

What does B12 do?

A

Cofactor for HMT ( to make THF) and MMM ( needed in prevention of myelin neuropathy)
Absorbed in proximal ileum

99
Q

What does vit C do?

A

Collagen synthesis
Catecolamine synthesis
Absorption of iron and free radicals in the GI

100
Q

What does vit D do?

A

Mineralization of bone, teeth

101
Q

What does vit K do?

A

Clotting

102
Q

What does Biotin do?

A

Carboxylation

103
Q

What does Ca do?

A

Neuronal function
Atrial depolarization
SM contractility

104
Q

What does Cu do?

A

Collagen synthesis

105
Q

What does Fe do?

A

Hb function

Electron transport

106
Q

What is Bronze pigmentation?

A

Fe deposit in skin

107
Q

What is Broncen Cirrhosis?

A

Fe deposit in liver

108
Q

What si Bronzen diabetes?

A

Fe deposit in pancreas

109
Q

What is Hemosiderosis?

A

Fe overload in bone marrow

110
Q

What is Hemochromatosis?

A

Fe deposit in organs

111
Q

What does Mg do?

A

PTH and kinase cofactor

112
Q

What does Zn do?

A

Taste buds
Hair
Sperm function

113
Q

What does Cr do?

A

Insulin function

114
Q

What does Mo do?

A

Purine breakdown (Xanthippe oxidase)

115
Q

What does Mn do?

A

Glycolysis

116
Q

What does Se do?

A

Heart function -> dilated cardiomyopathy

117
Q

What does Sn do?

A

Hair

118
Q

What is Kwashiorkor?

A 
Malabsorption 
Big belly (ascites)
Protein deficiency
119
Q

What is marasmus?

A

Starvation
Skinny
Calorie deficiency

120
Q

What does the Pre label send stuff to?

A

ER

121
Q

Where does Pro lable send stuff to?

A

Golgi

122
Q

Where does the Manose-6-P send stuff to?

A

Lysosomes

123
Q

Where does the N-terminal sequence send stuff to?

A

Mitochondria

124
Q

How does Scleroderma pigmentosa present?

A

Tight skin

125
Q

How does Ehlers Danlos present?

A

Hyper stretchable skin

126
Q

What are the 4 types of collagen?

A

“SCAB”

  • Type I: skin, bone, tendons
  • Type II: connective tissue,aqueous humor, cartilage
  • Type III: arteries, granulation tissue
  • Type IV: basement membrane
127
Q

How does Homocystinuria present?

A

Dislocated lens from top -> look down

128
Q

How does Kinky hair disease present?

A

Hair looks like copper wire ( Cu deficiency)

129
Q

How does Scurvy present?

A

Bleeding gums

Bleeding hair follicles

130
Q

How does Takayasu arteritis present?

A

Asian female with very weak pulse

131
Q

What is the typical incidence of rare things?

A

1-3%

132
Q

How does Osteogenesis Imperfecta present?

A

Shattered bones

Blue sclera

133
Q

How does Marfan’s present?

A 
Hyperextensible joint
Arachnodactyly
Wing span longer than height
Aortic root dilation
Aortic aneurysm
Mitral valve prolapse
Dislocated lens from bottom of eye -> look up
134
Q

What is the typical incidence with 1 risk factor?

A

10%

135
Q

What is the typical incidence with 2 risk factor?

A

50%

136
Q

What is the typical incidence with 3 risk factor?

A

90%

137
Q

What does AD usually indicate?

A

Structural problem

50% chance of passing it on

138
Q

What does AR usually indicate?

A

Enzyme deficiency
1/4 get it
2/3 carry it

139
Q

What are the X-linked Recessive deficiency?

A

Lesch Nyhan -> HGPRT def. ( self mutilation, gout, neurophaty)
Hunter’s -> iduronidase def.
Fabry’s -> Alfa-galactosidase def. ( corneal clouding, attack baby
kidney)
PDH def.
G6PD def. -> infxn, hemolytic anemia
CGD -> NADPH oxidase def.

140
Q

Where did X-linked Recessive disease come from?

A

From maternal uncle or grandpa

141
Q

Where did the X-linked Dominant disease come from?

A

Dad -> daughter

142
Q

What are the Mitochondrial disease come from?

A

Mom to all kinds

143
Q

What are the X-linked dominant diseases come from?

A

Vit D resistant Rickets ( kidney leaks phosphorus): waddling gait
Pseudohypoparathyroidism: sausage digit, osteodystrophy

144
Q

Why do we only have 6h to use t-PA?

A

The bodie have irreversible cell injury

145
Q

What is Trisonomy 18?

A

Edward’s

  • rocket bottom feet
  • clenched fists
146
Q

What is Turner’s?

A

(X,O)

  • web neck
  • cystic hygroma
  • shield chest
  • contraction of the aorta
    • different pulses on PE
    • rib notching
    • differential cyanosis
  • rib notching
147
Q

What is Klinefelter’s?

A

(47, XXY)

  • tall
  • gynecomastia
  • infertility
  • low testosterone
148
Q

What is Trisonomy 13?

A

Patau’s (lives only 2-3 month)

  • polydactyly
  • high arch palate
  • pee problem
  • holoprosencephaly
149
Q

What is XXX syndrome?

A

(47,XXX)

- normal female w/tow Barr bodies

150
Q

What is XYY syndrome?

A

(47,XYY) tall aggressive male

151
Q

Why do we stop CPR after 20-30min?

A

The brain have irreversible cell injur

152
Q

What disease has a Dinucleotide repeats?

A

HNPCC

153
Q

What disease have trinucleotide repeats?

A

Huntington’s
Fragile X
Myotonic distrphy
Fredreich’s ataxia

154
Q

What is anaplasia?

A

Regress to infantil state

155
Q

What is Angelmans?

A

Happy puppet syndrome

Ataxia

156
Q

What is Prader-Willi?

A

Hyperphagia
Hypogonadism
Almond-shape eyes

157
Q

What is Kallman’s?

A

Anosmia

Small test

158
Q

What is Trisonomy 21?

A

Down’s

  • simian crease
  • wide 1 and 2 toes
  • macroglossia
  • Mongolian slant of eyes
  • brushfiels spots
  • retardation
159
Q

What is Desmoplasia?

A

Cell wraps itself w/ dense fibrous tissue

160
Q

What is dysplasia “ carcinoma insitus”?

A

Lose contact inhibition (cell crawl on each other)

161
Q

What is hyperplasia?

A

Increase cell number

162
Q

What is hypertrophy?

A

Increase cell size

163
Q

What is metaplasia?

A

Change from one adult cell type to another

164
Q

What is atrophy?

A

Decrease organ or tissue size

165
Q

What is benign?

A 
Well circumscribe
Freely movable
Maintains capsule
Obeys physiology
Hurts by compression
Slow growing
166
Q

What does Adeno tell you?

A

Glandular

167
Q

What is malignant?

A 
Not well circumscribe
Fixed
No capsule
Doesn't obey physiology
Hurts by metastasis
Rapidly growing ( outgrows blood supply -> hunts for blood -> secretes angiogenin and endostatin to inhibit blood supply of other tumors)
168
Q

What are the fastest killing cancers?

A

Pancreatic

Esophageal

169
Q

What is neoplasia?

A

New growth

170
Q

What does Leiomyo tell you?

A

Smooth muscle

171
Q

What does Rhabdomyo tell you?

A

Skeletal muscle

172
Q

What does Hemangioma tell you?

A

Blood vessel

173
Q

What does Lipo tell you?

A

Fat

174
Q

What does Osteo tell you?

A

Bone

175
Q

Disease of Type IV collagen?

A

Goodpasture syndrome
Alport disease
Epidermolysis bullosa

176
Q

What does -oma tell you?

A

Tumor

177
Q

What does Fibro tell you?

A

Fibrous tissue

178
Q

Disease of Type III collagen?

A

Ehlers-Danlos type IV

Keloid formation

179
Q

Disease of Type I collagen?

A

Osteogenesis Imperfecta

Ehlers-Danlos

180
Q

What does -carcinoma tell you?

A

Cancer

181
Q

What does -sarcoma tell you?

A

Connective tissue cancer

182
Q

What is a Hamartoma?

A

Abnormal growth of normal tissue

183
Q

What is a Choristoma?

A

Normal tissue in the wrong place

184
Q

What is the most common anterior mediastinum tumor?

A

Thy momma

185
Q

What in the most common middle mediastinum tumor?

A

Pericardial

186
Q

What is the most common posterior mediastinum tumor?

A

Neuro tumors

187
Q

What organs have the most common occurrence of metastasis?

A

” BBLLAP”

  • Brain
  • BOne
  • Lung
  • Liver ( portal vein, hepatic artery)
  • Adrenal gland ( renal arteries)
  • Pericardium ( coronary arteries)
188
Q

What cancers have psammoma bodies?

A

“SPAMM”

  • Serous (ovary)
  • Papillary(thyroid)
  • Adenocarcinoma ( ovary)
  • Meningioma
  • Mesothelioma
189
Q

What cancer has CA-19?

A

Pancreatic

190
Q

What cancer has Rb?

A

Ewing’s sarcoma
Retinoblastoma
Osteosarcoma

191
Q

What cancer has S-100?

A

Melanoma
Neuronal tumor
Astrositomas

192
Q

What cancer has CEA?

A

Colon
Pancreatic
Gastric
Breast

193
Q

What cancer has AFP?

A

Liver

Yolk sac

194
Q

What cancer has BRCA?

A

Breast

Ovarian

195
Q

What cancer has PAS?

A

Prostate

196
Q

What cancer has CA-125?

A

Ovarian ( malignant epithelial tumor)

197
Q

What cancer has Ret?

A

Medullary thyroid cancer

MEN II y III

198
Q

What cancer has Ras?

A

Colon

199
Q

What cancer has bcl-2?

A

Follicular lymphoma

200
Q

What cancer has c-myc?

A

Burkitt’s lymphoma

201
Q

What cancer has L-myc?

A

Small cell lung carcinoma

202
Q

What cancer has N-myc?

A

Neuroblastoma => pseudorosette

203
Q

What cancer has Bombesin?

A

Neuroblastoma
Lung
Gastric

204
Q

What cancer has beta-HCG?

A

Choriocarcinoma
Hidatid fom mole
Gestational throphobladtic tumor

205
Q

What has t(14,18)?

A

Follicular lymphoma (bcl-2 gene)

206
Q

What has t(9,22)?

A

CML (brc-abl gene)

207
Q

What has t(11,22)?

A

Ewing’s sarcoma

208
Q

What cancer has 5-HT?

A

Carcinoid syndrome

209
Q

What has t(15,17)?

A

AML M3

210
Q

What has t(8,14)?

A

Burkitt’s lymphoma ( c-myc gene)

211
Q

What has HLA A3,A6?

A

Hemochromatosis

212
Q

What has HLA B5?

A

Behcet’s

213
Q

What has HLA B13?

A

Psoriasis without arthritis

214
Q

What has HLA B27?

A

Psoriasis
Ankylosing spondylitis
Reiter’s
IBS

215
Q

What has HLA DR2?

A

Goodpasture’s
MS
SLE

216
Q

What has HLA DR3?

A

Celiac sprue
DM Type I
Grave’s disease

217
Q

What has HLA DR4?

A

Pemphigus vulgaris
RAÚL
DM Type I

218
Q

What has HLA DR5?

A

Pernicious anemia

Hashimotos Thyroiditis

219
Q

Aplasia

A

Failures of cell production during embryogenesis

Ex: unilateral renal agenesis

220
Q

Hypoplasia

A

Decrease in cell production during embryogenesis
Result in relative small organ
Ex: streak ovary in Turner Syndrome

221
Q

Pyknosis

A

Nucleus turn small

222
Q

Karyorrhexis

A

Fragmentation of nucleus

223
Q

Karyolysis

A

Disolvment of nucleus

224
Q

Heterochromatin?

A

Condensed
Transcriptionally INACTIVE
Sterically inaccessible

225
Q

Euchromatin?

A

Less condensed
Transcriptionally ACTIVE
Sterically accessible

226
Q

Histones are?

A

Positively charge
Rich in lysine and arginine
Histone Octamer form a nucleosome ( H2A, H2B, H3, H4) 2 of each
H1 is between each nucleosome

227
Q

Histone Methylation and Acetylation?

A

Methylation -> inactivates transcription of DNA

Acetylation -> relax DNA coiling, allowing transcription

228
Q

What is Orotic Aciduria?

A 
Inability to convert orotic acid to UDP
Defect in the UMP synthase
AR
Findings: Megaloblastic anemia, failure to thrive and normal ammonia
Tx: oral uridine
229
Q

Which are the AA necessary for purine synthesis?

A

Glycine
Aspartate
Glutamine

230
Q

What is a Missense mutation?

A

Change of AA

231
Q

Origin replication?

A

Initiation of replication
Proka: single
Euka: multiple

232
Q

Replication fork?

A

Synthesis of the leading and lagging strand

233
Q

Helicase?

A

Unwinds DNA

234
Q

Single-strand binding protein?

A

Prevents Reannealing

235
Q

DNA Topoisomerase?

A

Relieve supercoil

236
Q

Primase?

A

Makes RNA primer

237
Q

DNA Polymerase I and III?

A

Only in prokaryote
Poly I-> degrades RNA primer (5’-3’)
Poly III -> elongation

238
Q

DNA ligase?

A

Seals

239
Q

Telomerase?

A

Ads DNA at 3’ end of chomosome in every duplication

240
Q

Types of RNA?

A

rRNA -> synthesis in the NUCLEOLUS, most abundant (RNA Poly I makes it)
mRNA -> synthesis in the NUCLEOPLASM, the longest (RNA Poly II makes it)
tRNA -> synthesis in the NUCLEOPLASM, the smallest (RNA Poly III makes it)

241
Q

What is an Intron?

A

Noncoding segments of DNA which stay in the nucleus

242
Q

What is an Exon?

A

Coding sequence for specific protein products that LEAVE the nucleus

243
Q

Molecular motor proteins?

A 
Dynein = retrograde to microtubule ( + -> -)
Kinesin = anterograde to microtubule ( - -> +)
244
Q

What is the rate limiting enzyme for ketogenesis?

A

HMG-CoA reductase

245
Q

What is the limiting enzyme in the HMP shunt?

A

G-6PD

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