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Biochemistry Flashcards

1
Q

Major cause of AR SCID

A

Def of adenosine deaminase

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2
Q

Lesch Nyhan Syndrome

A

Gout, angry, MR, self mutilation, orange sand in diaper

Tx: allopurinol or febuxostat

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3
Q

What is defective in xeroderma pigmentosum?

A

Nucleotide excision repair - can’t fix pyrimidine dimers from UV light - in G1 phase
= increased risk skin CA

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4
Q

What is defective in Lynch syndrome?

A

Mismatch repair in G2 phase

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5
Q

What is mutated in ataxia telangiectasia?

A

Nonhomologous end joining to fix ds breaks

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6
Q

What blocks 30S protein synthesis?

A

Aminoglycosides

Tetracyclines - block from getting to A site

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7
Q

What drugs prevent protein synthesis at 50S?

A 
Clindamycin
Macrolides
Streptogranines
Chrolamphenicol
Linezolid
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8
Q

GFAP

A

Stains for neuroglia

Good for astrocytoma, glioblastoma

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9
Q

Desmin

A

Stains muscle

Good for tumors - rhabdomyosarcoma

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10
Q

Drugs that work on microtubules

A 
Mebendazole - anti helminth
Griseofulvin - antifungal
Colchicine - gout
Vincristine/Vinblastine - CA
Paclitaxel - CA
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11
Q

Type I collagen

A

Bone, skin, tendon

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12
Q

Type II collagen

A

Cartilage

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13
Q

Type III collagen

A

Reticulin - skin, blood vessels, fetal, granulation

– Ehlers Danlos

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14
Q

Type IV collagen

A

Basement membrane

  • targeted by autoabs in Goodpasture
  • Alport syn
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15
Q

Defective in Ehlers Danlos?

A

Type III Collagen

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16
Q

Defective in Alport syndrome?

A

Type IV collagen

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17
Q

Mut in ALS?

A

SOD1

Superoxide dismutase

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18
Q

Brushfield spots

A

Downs - while fibrotic speckles on iris

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19
Q

Downs associations:

A 
Hirschsprung
Duodenal atresia
Early Alzheimer's
CA - baby AML
CA - 3-7 y ALL
Quad screen: all down except hi -decreased aFP, estriol - increased B-hcg, inhibin A
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20
Q

Trisomy 18

A

Edward - Edward Cullen stuck at 18
Horseshoe kidney, rocker bottom feet, overlap fingers
Quad screen - all 4 decreased

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21
Q

Trisomy 13

A

Patau - 1 and 3 on side - extra finger and cleft lip

holoprosencephaly

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22
Q

Cri du chat

A

5 little short cats with small heads crying over a broken heart
Deletion short arm of chr 5, hypo plastic larynx
VSD mc

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23
Q

Klinefelters

A 
Inc. FSH, LH
Dec. T
guys are kinky, too much seX
Osteoporisis
Increased risk BCA, testicular CA
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24
Q

4 causes of Hydrops Fetalis

A

Parvo B19
Rh- incomp
a-Thal
Turner syn

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25
Q

Turners

A

Shorty missing x - Shox - homeobox gene

cystic hygroma - web neck

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26
Q

Tay Sachs

A

Tay is 15 yrs old, walking through the woods - takes cherries and throws through the window of an old house. witch comes out, reaches into sach and puts a hex on him. Only 2 cars, 2 GM cars.
Def of hexosaminodase A, accumulates GM2 ganglioside
EM: distended lysosomes with whorls (like car wheel)
Retina - cherry red spot

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27
Q

Niemann Pick

A

Neimann picks his nose and sphings it at a zebra with stripes
Def in sphingomyelinase, sphingomyelin accumulates - brain, retina, Macrophages = big organs
Chr 11 that look like stripes on zebra

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28
Q

Gaucher dz

A 
MC
Chr 1
Def of glucocerebrosidase, glucocerebroside accumulates - Macro
Gaucher cell - sinusoids filled with RBC
Bone - erlenmeyer flask deformity
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29
Q

Erlenmeyer bones

A

Gaucher dz

Osteopetrosis

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30
Q

Pompe Dz

A

Glycogen in lysosome - PAS+
a-1-a4-glucosidase
aka acid maltose

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31
Q

Mucopolysaccharidosis

A

GAGs accumulate –> HS, DS, CS (chondroiton sulfate)
1st in macro -> HSM, fibroblasts accumulate = cloudy cornea
MC: Hurler
Hunter

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32
Q

Hurler dz

A

Hurling is worse than hunting
Spiderman villan Gargoyle throwing pumpkins full of PAS+
Misses spiderman = cloudy body - cornea, bone abnl, CTS
rides away on a mucopolysacchaRIDE
HSM, cloudy cornea, arthritis, gargoyle, CTS, heart valve probs

33
Q

Hunter dz

A

Male, x-linked mild compared to hurler

34
Q

Osteogenesis imperfecta genetic mut?

A

Type 2:
most severe, pulm hypoplasia, hearing loss, blue sclera
Mut: COL1A1, COL1A2

35
Q

Marfan syndrome

A

Defect in fibrillin - glycoprotein that forms sheath around elastin
Subluxation of lenses

36
Q

Pleiotropy

A

One gene contributes to multiple phenotypic effects

ex, PKU

37
Q

Incomplete penetrance

A

Not all with it, show phenotype

ex, BRCA1 - not always CA

38
Q

Codominance

A

Both alleles contribute -

ex, blood groups, a1-antitrypsin

39
Q

Prader Willi

A

Chr 15 paternal gene is deleted/mutated

hyperphagia, obesity, MR, hypogonadism

40
Q

Angelman Syn

A

Angels miss their moms
Chr 15 maternal gene deleted/mutated
Inappropriate laughter, seizures, ataxia, severe MR

41
Q

Ex of X-linked dominant

A

Hypophoshpatemic rickets, Rett syn, fragile X, Alport

42
Q

Mut in achondroplasia

A

FGFR3 - inhibits chondrocyte proliferation

43
Q

Li Fraumeni Syn

A

abnl in TP53

Malignancies at young age - sarcoma, breast, leukemia, adrenal glands

44
Q

MEN 2A and 2B gene?

45
Q

Neurofibromatosis genes?

A

NF1 - chr 17

NF2 - chr 22

46
Q

CF deletion?

A

deletion of Phe508
defect in CFTR gene on chr 7
Infections: Pseudomonas, s. aureus, chronic bronchitis
Meconium ileus in newborns, infertility in males, nasal polyps

47
Q

X linked recessive D/O

A 
Fabry dz
Wiskott-Aldrich
Ocular albinism
G6PD def
Hunter syn
Bruton agammaglobinemia
Hemo A and B
Lesch-Nyhan
Duchenne (Beckers)
48
Q

Duchenne mut?

A

XL frameshift mutation of dystrophin protein

vs. Beckers is non-frameshift insertion

49
Q

Fragile X

A

Big balls, jaws and ears
Trinucleotide of CGG in FMR1 gene
MVP

50
Q

22q11 deletion syndromes

A

DiGeorge - thymic, parathyroid, cardiac
Velocardiofacial syn - palate, face, cardiac
3rd and 4th pouches

51
Q

Vit A

A

Retinol
bumping into things at noc b/c lights go down and rods come out at night
squamous metaplasia - scaly skin, corneal degeneration, Bitot spots
Tx of AML M3 - all-trans retinoic acid

52
Q

Vit B1

A

Thiamine
Important to glucose breakdown
Seen in malnutrition and alcoholism
Wernicke-Korsakoff syn

53
Q

Dry beriberi

A

Def of Vit B1 thiamine - nerves, sym m wasting

54
Q

Wet beriberi

A

Def of Vit B1 thiamine - high output cardiac failure

55
Q

Vit B3

A 
Niacin - 3 vowels
4 D's - Pellagra
D - dermatitis
D - dementia
D - diarrhea
D - death
56
Q

Excess Niacin

A

Facial flushing - prostaglandins

Pretx with ASA

57
Q

Def of Vit B6

A

Pyridoxine

convulsions, hyperirritability, peripheral neuro

58
Q

Isoniazid can lead to?

A

Dev vit B6 - pyridoxine

59
Q

Vit B9 aka?

60
Q

drugs that can cause folate def?

A

Phenytoin, sulfonamides, methotrexate

61
Q

Common causes of Vit B12 def?

A

Malabsorption - celiac’s, enteritis, diphyllobothrium
Lack of IF - pernicious anemia, gastric bypass
Absence of terminal ileum - crohn

62
Q

what vit can look like B12 def?

A

Vit E - is an antioxidant that protects RBC and membranes from ROS
Hemo anemia, neuro

63
Q

Kwashiorkor

A

Protein malnutrition

liver fatty change, m wasting, edema

64
Q

Marasmus

A

Total calorie malnutrition

emaciation

65
Q

what drug if taken and then drinking can have disulfram like effects?

A

Metronidazole

66
Q

Fomepizole

A

Inhibits alcohol dehydrogenase

Used for antidote to methanol or ethylene glycol poisoning

67
Q

Garlic breath?

A

Arsenic poisoning

68
Q

G6PD Def

A

Decreased NADPH -> hemolytic anemia
XLR - inc malarial resistance
Heinz bodies - denatured Hb ppts
Bite cells - Macro bite into the Heinz ketchup bodies

69
Q

Assoc with G6PD Def?

A 
Sulfonamides
Primaquine
Nitrofurantoin
Isoniazid
Fava beans
Dapsone
Chlorquine
70
Q

Essential fructosuria

A

defect in fructokinase, asx, fructose in blood and urine

71
Q

Fructose intolerance

A

Def of aldolase B

Fructose-1-phosphate accumulates

72
Q

Galactokinase def

A

can get infantile cataracts

73
Q

Tryptophan derivative

A

B6 –> niacin –> VAD

Serotonin –> Melationin

74
Q

Glycine derivative

A

Porphyrin –> heme

75
Q

Glutamate derivative

A

GABA - inhibit

Glutathione - antioxidant

76
Q

Arginine derivative

A

Creatine
Urea
NO - vasodilation

77
Q

PKU def of what 2 things?

A

MC: phenylalanine hydrolase

tetrahydrobiopterin cofactor

78
Q

Maple syrup urine dz

A

Blocked degradation of branched AA - LIV
L - leucine
I - isoleucine
V - baline

79
Q

Alkaptonuria

A

Dark like Al Capone
can’t degrade tyrosine
Def of homgentisate oxidase
Urine black - black/blue CT and sclera

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