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AM- STEP1 > Biochem / Immuno Review > Flashcards

Biochem / Immuno Review Flashcards

1
Q

Heterochromatin

methylation vs acetylation

A

Increased methylation

Decreased acetylation

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2
Q

DNA methylation

A

Template strand cytosine and adenine are methylated in DNA replication which allows mismatch repair enzymes to distinguish between old and new strands in prokaryotes

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3
Q

What relaxes DNA coiling allowing for transcription

A

Histone acetylation

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4
Q

Deamination of cytosine makes

Deamination of adenine makes

Methylation of uracil makes

A

Deamination of cytosine makes Uracil

Deamination of adenine makes Guanine

Methylation of uracil makes thyamine

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5
Q

Amino acids necessary for purine synthesis

A

GAG

Glycine
Aspartate
Glutamine

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6
Q

Inhibit dihydrofolate reductase

in what pathway

A

Methotrexate (MTX)
Trimethoprim (TMP)
Pyrimethamine

Pyrimidine synthesis

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7
Q

Thymidylate synthase inhibited by

what pathway

A

5-fluorouracil

pyrimidine synthesis

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8
Q

Inhibits purine synthesis pathway

A

6- mercaptopurine ‘

  • azathioprine is prodrug
  • inhibits PRPP aminotransferase

Mycophenolate
Ribavirin
- inhibit inosine monophosphate dehydrogenase

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9
Q

Inhibits ribonucleotide reductase

A

Hydroxyurea

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10
Q

Allopurinol MOA

Other drug with same MOA

A

inhibits xanthine oxidase

Febuxostat

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11
Q

One of the major causes of SCID

A

AR

adenosine deaminase deficiency cant degrade deoxyadenosine ( dATP)

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12
Q

Self mutilation

Intellectual disability

A

Lesch-Nyhan syndrome
- X linked

Defective purine salvage

HGPRT absent

HGPRT

  • Hyperuricemia
  • Gout
  • Pissed off
  • Retardation
  • Dystonia
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13
Q

Lesch-Nyhan syndrome see an increase in

A

Phosphoribosyl pyrophospahte amidotransferase (PRPP aminotransferase)

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14
Q

What two amino acids are coded for by only 1 codon

A

methionine (AUG)

Tryptophan (UGG)

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15
Q

Inhibits eukaryotic topoisomerase I

A

Irinotecan

Topotecan

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16
Q

Inhibits eukaryotic topoisomerase II

A

Etoposide
teniposide

Fluroquinolones

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17
Q

Inhibit prokaryotic topoisomerase II and topoisomerase IV

Topoisomerase II aka as

A

Topoisomerase II= DNA gyrase

Fluroquinolones

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18
Q

Telomerase

  • prokaryotes or eukaryote
  • MOA
  • pattern
A

Eukaryotes only

RNA-dependent DNA polymerase that adds DNA to 3’ ends of chromosome to avoid loss of genetic material with every duplication

TTAGGG repeat

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19
Q

Transition vs transversion in mutations

A

Transition

  • purine to purine
  • pyrimidine to pyriminde

Transversion
- purine to pyrimidine or reverse

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20
Q

Example of missense mutation disease

A

Sickle cell disease

Glutamic acid –> valine

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21
Q

Stop codons

A

UAG
UAA
UGA

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22
Q

Examples of frameshift mutation disease

A

Duchene muscular dystrophy

Tay-Sachs

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23
Q

Splice site mutation

A

Mutation at a splice site –> retained intron in mRNA –> protein impaired or altered function

Dementia
Epilepsy
Some types of beta thalassemia

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24
Q

Lac operon

- low glucose does what

A

increases activity of adenylate cyclase –> cAMP from ATP and activation of CAP

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25
Q

Origins of replication for DNA vs RNA

A

Eukaryote

  • linear
  • multiple origins of replication

Prokaryote

  • Circular
  • Single origin of replication
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26
Q

Defective nucleotide excision repair leads to what diease

A

xeroderma pigmentosum

Prevents repair of pyrimidine dimers

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27
Q

Base excision repair begins with

A

Glycosylase removes an altered base and creates AP site (apurinic/ apyrimidinic)

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28
Q

Mismatch repair occurs during what phase of cell cycle

defective in

A

S phase

Defective in lynch syndrome (hereditary nonpolyposis colorectal cancer)

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29
Q

Nonhomologous end joining is defective in

A

Ataxia telangiectasia (AR)

  • ataxia
  • spider angiomas
  • IgA deficiency

Breast/ovarian cancers with BRCA1 mutation

Fanconi anemia

  • aplastic anemia
  • Short stature
  • cafe-au lait spots
  • thumb/ radial defects
  • reabsorption defect in PCT (increased excretion of everything)
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30
Q

Promoter site

  • what binds
  • sequence
A

RNA polymerase II binds

TATA
CAAT

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31
Q

Actinomycin D

A

inhibits RNA polymerase in both prokaryotes and eukaryotes

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32
Q

Inhibits DNA-dependent RNA polymerase in prokaryotes

A

Rifampin

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33
Q

mRNA quality control occurs where

A

at cytoplasmic processing bodies (p-bodies) which contain exonucleases, decapping enzymes and microRNA

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34
Q

Anti-smith Ab are antibodies to

A

SLE

Antibodies to spliceosomal snRNPs

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35
Q

Part called that is removed with spliceosome

A

Lariat

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36
Q

Part of DNA removed

A

Introns

Introns stay IN the nucleus

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37
Q

Posttranscriptionally regulate gene expression of mRNA by targeting 3’ untranslated region for degradation or translational repression

A

microRNA

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38
Q

Component of ribosome that catalyzes peptide bond formation during translation

A

rRNA

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39
Q

tRNA structure

A

Acceptor stem= ACC

T arm= binds tRNA to ribosome

Anticodon loop
- no functional role

D arm

  • dihydrouridine residues
  • how aminoacy-tRNA synthetase recoginzes tRNA
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40
Q

tRNA binds to mRNA in which way

A

Antiparallel fashion

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41
Q

Initiation
Elongation
Termination

of protein synthesis powered by

A

GTP

ATP- tRNA activation
GTP- tRNA (going places, translocation)

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42
Q

Tumor suppressor pathway

A

p53 induces p21 which inhibits CDKs –>
hypophosphorylation (activation) of Rb –>
inhibition of G1-S progression

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43
Q

Permanent cell types

Stable cell types

Labile cell types

A

Permanent cell types

  • Remain in Go
  • regenerate from stem cells
  • neurons, skeletal and cardiac muscle, RBcs

Stable cell types

  • Enter G1 from G0 when stimulated
  • Hepatocyets
  • Lymphocytes

Labile cell types

  • Never go to G0
  • Divide rapidly with a short G1
  • Most affected in chemo
  • Bone marrow, gut epithelium, skin, hair follicles, germ cells
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44
Q

Peptides formed where

Steroids formed where

A

NE, GABA, ACh, Dopamine, Epinephrine, serotonin
- formed in rough ER

Steroids= smooth ER

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45
Q

What all occurs in mitochondria

A

TCA cycle
Fatty acid oxidation
Electron transport chain

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46
Q

Oxidation of long and branched chain fatty acids

also oxidation of?

A

Peroxisomes
- via beta oxidation

also amino acids and ethaol

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47
Q

Hydrogen peroxide degradation occurs where

A

Peroxisomes

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48
Q

Degradation of ubiquitinated proteins occurs where

A

Proteasomes

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49
Q

Coarse facial features
Clouded corneas
Restricted joint movements
High plasma level of lysosomal enzymes

Fatal childhood

  • names
  • defect
  • failure
  • what happens
A

I-cell disease
(inclusion cell disease, mucolipidosis type II)

Inherited lysosomal storage disorder

defect in N-acetylglucosaminyl-1-phosphotransferase

failure of golgi to phosphorylate mannose residues on glycoproteins (decrease mannose-6-phosphate)

Proteins secreted extracellularily rather than to lysosomes

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50
Q

Vesicular trafficking proteins

A

COPI:

  • golgi –> golgi
  • golgi –> ER
  • backwards (retrograde)

COPII

  • ER –> golgi
  • forward (anterograde)

Clathrin
- golgi –> lysosomes

Two (COPII) steps forward (anterograde); one step (COPI) step back (retrograde)

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51
Q

Disease of peroxisome

A

Zellweger syndrome

  • hypotonia
  • seizures
  • hepatomegaly
  • early death

Refsum

  • scaly skin
  • ataxia
  • cataracts/ night blindness
  • shortening 4th toe
  • epiphyseal dysplasia
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52
Q

Microfilament

Intermediate filament

A

Microfilament
- actin, microvilli

Intermediate
- desmin, cytokeratin, lamins, neurofilaments

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53
Q

Vimentin

Desmin

GFAP

A

Vimentin

  • mesenchymal tissues (fibroblast, endothelial cells, macrophages)
  • sarcoma, meingioma

Desmin

  • muscle
  • rhabdomyosarcoma

GFAP

  • NeuroGlia
  • (astrocytes, schwann cells, olidodendrocytes)
  • Astrocytoma, glioblastoma
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54
Q

Transport along microtubule

A

Dynein
- retrograde to microtubule (+ –> - )

Kinesin
- anterograde to microtubules ( - –> +)

Negative near nucleus
Positive end Points to periphery

Kin (Keen) to go out (anterograde)

Dying to come back home (retrograde)

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55
Q

Drugs that act on microtubules

A

Microtubules Get Constructed Very Poorly

Mebendazole (antihelminthic)
Griseofulvin (antifungal)
Colchicine (antigout)
Vincristine/Vinblastine (anticancer)
Paclitaxel (anticancer)
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56
Q

Proteins help form the fibrillar network that lines the inside of the nuclear envelope

Regulate gene transcription

A

Lamins

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57
Q

Secures organelles inside the cytosol and provides resistance to mechanical stress

A

Vimentin

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58
Q

Primary ciliary dyskinesia

A

Kartagener syndrome

Immotile cilia due to dynein arm defect

Recurrent pulmonary infection
Digital clubbing
Abnormal immotile spermatoozoa
Sinus inversus
dysfunctional fallopian tube cilia

Bronchiectasis
Recurrent sinusitis
Chronic ear infections

Increased risk of ectopic pregnancy
Conductive hearing loss

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59
Q

Cilia structure

A

9 pairs of 2 microtubes are in a circle

Basal body: 9 microtubule triplets

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60
Q

Na/K pump

A

3 Na out of cytosol –> Extracellu
2 K in to cytosol

ATP on cytosolic side

Pumpkin= pump K in

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61
Q

Digoxin MOA

A

directly inhibits Na/K ATPase which leads to indirect inhibition of Na/Ca exchange

Increase Ca concentration

Increase cardiac contractility

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62
Q

Collagen types

A

Type I: Bone

Type II: cartilage
carTWOlage

Type III: vascular
(ehlers-danlos)
ThreE D

Type IV: basement membrane

  • Alport
  • Good pasture
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63
Q

Collagen made up

A

Gly- Proline- lysine

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64
Q

Vit C in collagen formation

A

hydroxylation of proline and lysine requires Vit C

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65
Q

Osteogeneis imperfecta collagen defect

A

Cant form triple helix of collagen

Glycosylation step

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66
Q

Ehlers Danlos collagen problem occurs which step

A

Proteolytic processing

Problem with cleavage of disulfide-rich terminal region of pro-collagen –> insoluble tropocollagen

Cross linking

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67
Q

Osteogenesis imperfecta

  • gene defect
  • inheritence
  • collagen involved
  • symptoms (3)
A

COL1A1 and COL1A2

AD

Type I collagen

Multiple fractures
Blue sclerae
Hearing loss

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68
Q

Hyperextensible skin
Hypermobile joints

  • assoc with
  • mutation
  • collagen
A

Ehlers-Danlos

Berry and aortic aneurysms

Classic type

  • Type V collagen
  • COL5A1, COL5A2

Vascular type
- deficent type III collagen

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69
Q

Brittle kinky hair
Growth retardation
Hypotonia

A

Menkes disease
X linked

Impaired copper absorption

defect ATP7A
decreased activity of lysyl oxidase

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70
Q

Elastin rich in

A

Proline
Glycine
Lysine

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71
Q

Elastin broken down by

inhibited by

A

Elastase

Elastase inhibited by alpha 1 antitrypsin

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72
Q

Defect in COL1A1 and COL1A2

A

Osteogenesis imperfecta

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73
Q

Tall with long limbs
Hypermobile joints
Long fingers and toes
subluxation of lens upward

  • inheritence
  • mutation
  • associated with
A

Marfan syndrome

AD

FBN1 gene chr 15

Defective fibrillin
- glycoprotein forms sheath around elastin

Cystic medial necrosis of aorta, Aortic incompetence
Disssecting aorta
Floppy mitral valve

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74
Q

What do you need for polymerase chain reaction (PCR)

A

Dont need exact nucleotide sequence

Need flanking region known to make primer

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75
Q

What do you need for gel electrophoresis

A

Need restriction sites

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76
Q

Types of blots

A

SNoW DRoP
Southern: DNA
Northern: RNA
Wester: protein

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77
Q

Used for fetal RBCs in mother’s blood and immunodeficiencies, CD4 count in HIV

A

Flow cytometry

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78
Q

Used for in genotyping, genetic testing, cancer mutation

A

Microarrays

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79
Q

What is used in reverse transcriptase PCR

A

cDNA (lacks introns)

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80
Q

Patients with the same genotype have varying phenotypes

A

Variable expressivity

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81
Q

Not all individuals with a mutant genotype show the mutant phenotype

A

Incomplete penetrance

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82
Q

One gene contributes to multiple phenotypic effects

A

Pleiotrophy

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83
Q

Loss of heterozygosity

A

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/ mutated before cancer develops

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84
Q

Mutation in mitochondrial DNA

A

Heteroplasmy

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85
Q

Mutations at different loci cause same phenotype

A

Locus heterogeneity

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86
Q

More than 1 genetic make up of cells occurring in same individual

A

Mosaicism

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87
Q

A 39-year-old woman gives birth to a term infant with
an umbilical hernia, Brushfield spots on the iris, macroglossia,
low-set ears, oblique palpebral fissures, and a heart murmur.
The infant survives to childhood and exhibits only mild mental
retardation. Which of the following chromosomal abnormalities,
affecting autosomes, is most likely to be present in
the somatic cells of this child?
A Haploidy
B Monosomy
C Mosaicism
D Tetraploidy
E Triploidy

A

C. Mosaicism

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88
Q

Unilateral cafe-au-lait spots
Fibrous replacement in bone on one side
Precocious puberty (puberty at 2 y.o)
Enlarge thyroid

A

McCune Albright syndrome

Mosaicism

Mutation of G-protein signaling

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89
Q

Different mutations in the same locus produce same phenotype

A

Allelic heterogeneity

Beta-thalassemia

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90
Q

Offspring receives 2 copies of chromosome from 1 parent and no copies from other parent

A

Uniparental disomy

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91
Q

Hardy-weinberg population genetics

Frequency of X linked recessive disease

  • in males=
  • in females=
A 
Males= q
Females= q ^2
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92
Q

Eats everything
Obese
Intellectual disability
Hypotonia

Other key symptom

A

Prader-Willi

Maternal imprinting

  • Mom gene= silent
  • Dad gene= mutated

Hypogonadisum

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93
Q

Inappropriate laughter
Intellectual disability

Other key symptom

A

AngelMan syndrome

Paternal imprint

  • Dad gene= silent
  • Mom= mutated

Seizues
Ataxis

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94
Q

X linked dominant disorder

A

Fragile X

Hypophosphatemic rickets
- Vit D resistant rickets

Alport syndrome

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95
Q

Mitochondrial inheritance what is seen in progeny

A

All offspring of affected females show signs of disease

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96
Q

Muscle weakness
Lactic acidosis
CNS disease

Muscle biopsy
- Ragged red fibers

  • failure of
  • biopsy due to
A

Mitochondrial myopathies

secondary to failure in oxidative phosphorylation

Ragged red fibers due to accumulation of disease mitochondria

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97
Q

Autosomal dominant disease

A 
Von, Von, ALS, Rb, MEN
Tubes and sphere and huntington
Marfan, Ehlers Dans
NF1 and 2, dont FAP too much
Autosominal dominant yes this song is clutch
Osler, Weber, rondu, achondroplaia
Family hypercholestrolemia
AD poly kidney disease
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98
Q

Autosomal recessive disease

A

Alpha, Beta, Pee-ew
Iron, copper, Bern-sou
Hartnup, Glanzman, fanconi
AR yes its true

Cystic fibrosis, pompe-ew
Spingo, muco, sickle-ew
Cori, mcardle, albinism
Von gierke is too

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99
Q

X linked recessive

A

The itsys bitter hunter’s name was Lesch Fabry
He shot the menike, WASP, and G6P
Up came the Bruton, what a douchy guy
A and B are X linked, dont forget DI

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100
Q

Cystic fibrosis

  • gene and chromosome
  • affects
  • mutation causes
  • decrease in
  • overall effect
  • Labs
A

CFTR on chr 7

encodes for ATP gated Cl- channel

Misfolded protein retained in RER

Decrease Cl and H20 secretion
Increase Na reabsorption

Abnormally thick mucus secreted into lungs and GI tract
- cilia normal

Alkalosis
Hypokalemia

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101
Q

Cystic fibrosis infections

A

early infancy: s. aureus

adolescence: pseudomonas

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102
Q

Cystic fibrosis presentation

A 
Absence vas deferens
Bronchitis adn bronchiectasis
- reticulonodular parttern on CXR
- opacification of sinuses
- Nasal polyps
- clubbing of nails
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103
Q

Weakness in pelvic girdle muscles
Progresses superiorly

  • death due to
  • labs
A

Duchenne

Death= cardiomyopathy

Increased CK and aldolase

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104
Q

Becker muscular dystrophy

A

X linked disorder

Non-frameshift deletion

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105
Q

Muscle weakness
Cataracts
Early balding in men
Gonadal atrophy

A

Myotonic type I

AD

CTG trinucleotide repeat in DMPK gene –> abnormal expression of myotonin protein kinase

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106
Q

Large Jaw
Macroorchidism
Long face
Large ears

  • inheritence
  • mutation
  • causes
  • assoc with
A

Fragile X syndrome

X linked dominant

Trinucleotide repeat in FMR1 (CGG)

–> hypermethylation

Autism
Mitral valve prolapse

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107
Q

Trinucleotide repeat expansion diseases

A

Try HUNTing for MY FRAGile Fried eggs

Huntington
Myotonic type I
Fragile X
Friedreich ataxia

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108
Q

Labs Down syndrome

A

Decreased alpha-fetoprotein
Increased beta hCG
Decreased estriol
Increased inhibin A

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109
Q

CTG

CGG

CAG

GAA

A

CTG= Myotonic type I
- Cataracts, Toupee, Gonadal atrophy

CGG= Fragile X syndrome
- Chin, Giant Gonads

CAG= Huntington
- Caudate has decreased Ach and Gaba

GAA= friedreich ataxia
- Ataxia GAAit

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110
Q

Edwards syndrome trisomy 18

  • signs
  • labs
A

Rocker bottom feet
Overlapping fingers
Low set Ears
Micrognathia

Decreased

  • alpha feto protein
  • hCG
  • estriol
  • inhibin (normal)
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111
Q

Patau syndrome trisomy 13

  • signs
  • labs
A 
Rocker bottom feet
Microcephaly
cleft lip/palate
holoprosencephaly
polydactyly

decreased beta hCG
Decreased PAPP-A

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112
Q

Genetic disorder by chromosome

A

3

  • VHL
  • renal cell carcinoma

4

  • ADPKD (PKD2)
  • achondroplasia
  • huntington

5

  • cri-du-chat
  • familial adenomatous polyposis

6
- hemochromatosis

7

  • Williams syndrome
  • cystic fibrosis

9
- Freidreich ataxis

11

  • Wilms
  • sickle cell
  • beta thalassemia
  • MEN1

13

  • Patau
  • Wilson
  • Rb1
  • BRCA2

15

  • Prader-willi
  • Angelmann
  • Marfan

16

  • ADPKD (PKD1)
  • alpha thalassemia

17

  • NF1
  • BRCA1
  • p53

18
- edwards

21
- downs

22

  • NF2
  • Digeorge

X

  • Fragile X
  • X linked agammaglobulinemia
  • klinefelter
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113
Q

Chromsome 3

A
  • VHL

- renal cell carcinoma

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114
Q

Chromosome 4

A

4

  • ADPKD (PKD2)
  • achondroplasia
  • huntington
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115
Q

Chromosome 5

A

5

  • cri-du-chat
  • familial adenomatous polyposis
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116
Q

Chromosome 6

A

6

- hemochromatosis

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117
Q

Chromosome 7

A

7

  • Williams syndrome
  • cystic fibrosis
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118
Q

Chromosome 9

A

9

- Freidreich ataxis

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119
Q

Chromosome 11

A

11

  • Wilms
  • sickle cell
  • beta thalassemia
  • MEN1
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120
Q

Chromosome 13

A

13

  • Patau
  • Wilson
  • Rb1
  • BRCA2
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121
Q

Chromosome 15

A

15

  • Prader-willi
  • Angelmann
  • Marfan

16

  • ADPKD (PKD1)
  • alpha thalassemia

17

  • NF1
  • BRCA1
  • p53

18
- edwards

21
- downs

22

  • NF2
  • Digeorge

X

  • Fragile X
  • X linked agammaglobulinemia
  • klinefelte
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122
Q

Chromosome 16

A

16

  • ADPKD (PKD1)
  • alpha thalassemia
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123
Q

Chromosome 17

A

17

  • NF1
  • BRCA1
  • p53
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124
Q

Chromosome 22

A

22

  • NF2
  • Digeorge
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125
Q

X chromosome diseases

A

X

  • Fragile X
  • X linked agammaglobulinemia
  • klinefelter
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126
Q

Cri-du-chat

A

Microdeletion of short arm of chromosome 5

Microcephaly
High pitched crying/ meowing
epicanthal folds
VSD

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127
Q 
Elfin facies
Intellectual disability
Hypercalcemia 
Extremely friendly 
cardiovascular problems
A

Williams syndrome

Microdeletion of long arm on chr 7

elastin gene

Increased sensitivity to Vit D

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128
Q 
B1 
B2 (produce)
B3 (produce)
B5 (produce)
B6 
B7
B9
B12
C
A

B1= thiamine

B2= riboflavin
-FAD, FMN

B3= Niacin
- NAD

B5= Pantothenic acid
-CoA

B6= pyridoxine

B7= biotin

B9= Folate

B12= cobalamin

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129
Q

Night blindness
Dry scaly skin
Bitot spots

A

Vit A def

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130
Q

Vit B1 uses

A

think ATP
alpha ketoglutarate dehydrogenase
Transketolase
Pyruvate dehydrogenase

Ber1 Ber1

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131
Q

Dry Beri Beri

A

polyneuritis

Symmetrical muscle wasting

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132
Q

Wet Beri Beri

A

High out cardiac failure
dilated cardiomyopathy
edema

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133
Q

Fissures at corners of mouth

A

Vit B2 (riboflavin)

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134
Q

Vit B3 derived from

A

Niacin

Derived from tryptophan

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135
Q

Hartnup

  • inheritence
  • deficency
  • causes
A

AR

deficency of tryptophan
no niacin

Hyperpigmentation of sun exposed limbs
Disorientation
Diarrhea

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136
Q

Pellagra can be caused by

A

Hartnup

Malignant carcioid syndrome
( increased tryptophan metabolism)

Isoniazid (decreased Vit B6)

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137
Q

Alopecia deficiency in

A

Vit B5 pantothenic acid

part of CoA

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138
Q

Needed for synthesis of neurotransmitters

A

Vit B6 (pyridoxine)

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139
Q

Vit B9 deficiency causes

A

Phenytoin
Sulfonamides
Methotrexate

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140
Q 
Delayed wound healing
Decreased adult hair
Loss of taste
Loss of smell
Rash around mouth and anus
A

Zinc deficiency

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141
Q

Inhibits alcohol dehydrogenase

A

Fomepizole

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142
Q

Limiting agent in ethanol metabolism

A

NAD+

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143
Q

Hydroxylase does

A

Adds hydroxyl group (-OH)

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144
Q

Carboxylase does

A

Transfers CO2 gorup w/ help of biotin

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145
Q

Pyruvate dehydrogenase complex makes

A

Acetyl-CoA + CO2 + NADH

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146
Q

What forms succinyl CoA

Succinyl CoA form

A

Methylmalonyl-CoA –> methylmalonyl-CoA mutase + B12

Without B12
Increase methylamlonyl CoA

Succinyl CoA –> +B6 –> Heme

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147
Q

FBPase 2 vs PFK2

- fasting state

A

Fasting

  • increase glucagon
  • increase cAMP
  • increase protein kinase A
  • Increase FBPase

More gluconeogenesis

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148
Q

Garlic breath
Rice water stools
Vomiting
QT prolongation

  • inhibits
  • tx
A

Arsenic

Inhibits lipoic acid
Inhibits pyruvate dehydrogenase

No acetyl CoA or NADH

Dimercaprol

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149
Q

Pyruvate dehydrogenase complex deficiency

A

Build up pyruvate –> lactate and alanine

Alanine –> neurlogical defects
Lactic acidosis

X linked

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150
Q

Only major step in tca cycle that doesnt require NAD

A

Oxaloacetate –> citrate

citrate synthesis

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151
Q

Inhibits part of electron transport chain

A

Complex I= rotenone

Complex III= antimycin A

Complex IV= cyanide, CO

Complex V= oligomycin

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152
Q

ATP synthase inhibitor

A

Oligomycin

Inhibits complex V

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153
Q

Uncoupling agents

A

2,4 Dinitrophenol
Aspirin
Thermogenin in brown fat

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154
Q

Gluconeogenesis irrevesible enzmes

  • locations
  • requires
A

Pathway Produces Fresh Glucose

Pyruvate carboxylase

  • mitochondria
  • biotin, ATP
  • activated Acetyl-CoA

Phospheoenolpyruvate carboxykinase

  • Cytosol
  • GTP

Fructose-1,6-bisphosphatase
- Cytosol

Glucose-6-phosphatase
- ER

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155
Q

Sites of HMP shunt (pentose phosphate pathway)

A

Lactating mammary glands
liver
Adrenal cortex
RBCs

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156
Q

Asymptomatic

Fructose in blood and urine

A

Essential fructosuria

Defect in fructokinase

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157
Q 
Negative urine dipstick
Hypoglycemia
Jaundice 
Cirrhosis
Vomiting
A

Fructose intolerance

Deficiency aldolase B

AR

Fructose-1-phosphate accumulates

Decrease availability of phosphate

  • -> inhibit glycogenolysis
  • -> inhibit gluconeogenesis

Consumption fruit, juice or honey

FAB GUT
- Fructose is to aldolase as galactose is to Uridyl Transferase

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158
Q

Galactokinase deficiency

A

AR

Deficency galactokinase

Galactosemia
Infantile cataracts

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159
Q 
Child just began feeding
Failure to thrive
Jaundice
Hepatomegaly
Infantile cataracts
  • deficiency
  • inheritence
  • accumulation
  • serious defects due to
A

Classic galactosemia

Absence of galactose-1-phosphate uridyltransferase (GALT)

AR

Accumulation of galactitol

Serious defects lead to phosphate depletion

FAB GUT
- Fructose is to aldolase as galactose is to Uridyl Transferase

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160
Q

Diabetes and cataracts

A

Increased glucose –> glycation of lens protein

Hyperglycemia –> increased formation of sorbitol faster than metabolized to fructose

Sorbitol increase osmotic pressure
- osmotic cellular injury

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161
Q

Enzyme for glucose to sorbitol

Sorbitol to fructose

A

Aldose reductase

Sorbitol dehydrogenase

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162
Q

Essential amino acids

A

Private (PVT) TIM HaLL

Phenylalanine
Valine (VAL)
Threonine
Tryptophan
Isoleucine
Methionine (MET)
Histidine (HIS) 
Leucine
Lysine
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163
Q

Basic amino acids

A

Histidine
Lysine
Arginine

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164
Q

Urea cycle produces

A

pyruvate

acetyl CoA

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165
Q 
Tremor (asterixis)
Slurring speech
Somnolence
Vomiting
Cerebral edema
Blurring vision

Tx

A

Hyperammonemia

Tx
Rifaximin

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166
Q

Progressive development of spastic diplegia (paralysis of parts of body on both sides)

Abnormal movements

Growth delay

A

Arginase deficiency

Elevated levels arginine

Urea and ornithine not produced

No hyperammonemia

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167
Q

Orotic acid in blood
Decreased BUN
Hyperammonemia
No megaloblastic anemia

  • disorder of
  • inheritence
A

Ornithine transcarbamylase deficiency

Urea cycle disorder
X linked

168
Q

Phenylalanine forms

A

Tyrosine –> thyroxine (BH4)

Tyrosine –> DOPA (BH4)

DOPA –> melanin

DOPA –> Dopamine

Dopamine –> NE (vit C)

169
Q

Tryptophan forms

A

Niacin (B2, B6)

Serotonin (BH4, B6)

170
Q

Glutamate forms

A

GABA (B6)

171
Q

Arginine forms

A

Creatine
Urea
NO (BH4)

172
Q

Dopamine is formed from AA

A

Phenylalanine (w/ BH4)

173
Q

Heme is formed from what AA

A

Glycine (w B6)

174
Q

GABA is formed form what AA

A

Glutamate (w/ B6)

175
Q

Tyrosine is formed from what AA

A

Phenylalanine (w/ BH4)

176
Q

Nitric oxide is formed from what Aa

A

Arginine (w/ BH4)

177
Q

Norepinephrine –> Epinephrine requires

A

Phenylethanolamine-N-methyltransferase

+ SAM

178
Q 
Musty odor
Seizuers
Intellectual disability
Fair skin
eczema
  • deficency
  • inheritence
A

PKU

Phenylalanine hydroxylase
Tetrahydrobiopterin (BH4)

AR

179
Q

Vomiting
Poor feeding
Urine smells sweet

-inheritence

A

Decreased brached-chain alpha-ketoacid dehydrogenase

Isoleucine
Leucine
Valine

BCKDC requires 5 cofactors
Tender loving care for Noone
Tiamine
Lipoate
CoA
FAD
NAD

AR

180
Q

Bluish black ear cartilage
Sclerae
urine turns black

A

Alkaptonuria

AR

deficiency homogentisate oxidase

181
Q

Tall person
Sublux lens down
osteoporosis
kyphosis

  • inheritence
  • defect
  • tx
A

Homocystinuria

AR

Cystathionine synthase def
- Tx dec methionine, increase cysteine, increase B6 B12 folate

Decreased affinity for B 6
- Tx increase B6, cysteine

Methionine synthase def
- Tx increase methionine

182
Q

Hexonal cystine stones

A

Cystinuria

Defect of renal PCT and aminoacid transport taht prevents reabsroption of COLA (cystine, ornithine, lysine, arginine)

183
Q

Stimulates adenylate cyclase

A

Gl ucagon

Epinephrine

184
Q

PAS stain identifies

A

Glycogen

185
Q

Glycogen storage disease inheritence

A

AR

186
Q 
Hepatomegaly
Gout
Fasting hypoglycemia
Seizure
Lactic acidosis
A

Von Gierke

deficiency: Glucose-6-phosphatase

187
Q

Cardiomegaly
severe muscle weakness
hypotonia
exercise intolerance

A

Pompe disease

deficiency alpha 1,4 glucosidase in lysosome

188
Q

Hypoglycemia
Hepatomegaly
Normal lactate levels

A

Cori disease

deficiency debranching enzyme alpha-1,6, glucosidase

189
Q

Muscle cramps

Red urine w/ exercise

A

McArdle disease

GLycogen phosphorylase in skeletal muscle

190
Q

Cherry red spot
Lysosomes onion skin
No hepatosplenomegaly
Progressive neurodegeneration

A

TaySachs

deficient: Hexosaminidase A
accumulate: GM2 ganglioside

AR

tAy-saX
heXosaminidase A

” a Gang of 6 small Jews”

191
Q

Painless papules on lower abdomen (small red/blue marks)

peripheral neuropathy

glomerulopathy (renal failure)

Decreased sweat ( hypohidrosis)

A

Fabry disease

XR

Deficient: alpha- galactosidase

Accumulation: ceramide trihexoside; globotriaosylceramide

“my fabrite activity is ceramics class we made a galaXy”

192
Q 
A 3-year-old girl is brought to her pediatrician because of a progressive loss of motor function and a decline in her cognitive abilities. On physical examination, it is noted that the patient has decreased deep tendon reflexes, truncal ataxia, and a decreased attention span in comparison to the child’s last visit 6 months ago. The physician knows that her pathology is due to an abnormal accumulation of cerebroside
sulfate in her brain, peripheral nerves, kidney, and liver. A defi ciency of which of the following
enzymes leads to this condition?
(A) α-Galactosidase A
(B) β-Galactosidase
(C) Arylsulfatase A
(D) Hexosaminidase A
(E) Sphingomyelinase
A

(C) Arylsulfatase A

Metachromatic leukodystrophy

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate

AR

193
Q

Metachromatic leukodystrophy

A

Central and peripheral demyelination with ataxia and dementia

Deficiency arylsulfatase A
Accumulation cerebrosulfate AR

194
Q

Krabbe diease

A 
Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delays
Optic atrophy
GLobid cells

Deficiency: galactocerebrosidase
Accumulated: galactocerebroside psychosine

AR

“This Krabbe is galaxy headed”
This krab is out of this world”
big glob of krab= globoid

195
Q

Numbness and tingling in extremities
Blurriness in eyes
Developmental delays

A

Krabbe

Deficiency: galactocerebrosidase

Accumulated: galactocerebroside psychosine

AR

196
Q 
Hepatomegaly
Pancytopenia
Osteoporosis
Avascular necrois of femur
Lipid laden marcophages - crumped tissue paper

Cherry red spot

A

Gaucher disease

Def: glucocerebrosidase

Accum: glucocerebroside

AR

” oh my gauch hes such a bro”
crying voice= tissue paper cytoplasm

197
Q

Progressive neurodegeneration
Hepatosplenomegaly
Lipid-laden macrophages
cherry red spot

A

Niemann-Pick disease

Def: sphingomyelinase

Acc: sphingomyelin

AR

“Pick your BIG nose with your sphinger”

198
Q

Hepatosplenomegaly
Corneal clouding
Gargoylism
Developmental delay

A

Hurler syndrome

Def: alpha-L- iduronidase

Accum: heparan sulfate, dermatan sulfate
Glycosaminoglycans (GAGs)

hurLer= L-iduronidase

199
Q 
2 y.o
Progressive deterioration 
Coarse facial features 
Hepatosplenomegaly
Intellectual disability 
Poor growth (dwarfism) 
Aggressive behavior
A

Hunter syndrome

Deficient: iduronate sulfatase

Accumulation: heparan sulfate and dermatan sulfate

XR

“X marks the spot”
“Id hunt it my sulf, dermined
Cant hunt w/ corneal clouding

200
Q

Regulator of FA synthesis and oxidation

inhibits what

A

Malonyl-CoA

inhibits carnitine acetyltransferase

201
Q

Three ketone bodies

  • urine test
A

Acetone
Acetoacetate
beta-hydroxybutyrate

urine test for ketones only detects acetoacetate

202
Q

Glycogen reserves are depleted after how many days

A

1 day

203
Q

ketone bodies becomes main source of energy for brain when

A

starvation after 3 days

204
Q

Lipoprotein liase (LPL)

A

degradation of TG circulating in chylomicrons and VLDLs

vascular endothelial surfaces

205
Q

Hepatic TG lipase (HL)

A

degradation of TGs remaining in IDL

206
Q

Transfers TG to HDL

A

LCAT

207
Q

Exchange of cholesterol esters for TG from HDL to VLDL, IDL, LDL

A

CETP

Cholesterol ester transfer protein

208
Q

Apolipoprotein E

A

Mediates remnant uptake

Everything Except LDL

209
Q

Apolipoprotein A-I

A

Activates LCAT

Chylomicron
HDL

210
Q

Apolipoprotein C-II

A

Lipoprotein lipase Cofactor that Catalyzes Cleavage

Chylomicron
VLDL
HDL

211
Q

Apolipoprotein B-48

A

Mediates chylomicron secretion into lymphatics

Chylomicron
Chylomicron remnant

212
Q

Apolipoprotein B-100

A

Binds LDL receptor

VDLD
IDL
LDL

213
Q 
Steatorrhea
Failure to thrive
Ataxia
slowly progressive incoordination of gait
Difficulty seeing at night
Loss peripheral vision
A

Abetalipoproteinemia

AR

Chylomicrons, VDLD, LDL absent

Deficiency ApoB48 ApoB100

Vit E deficiency

214
Q

Familial dyslipidemias

A

” 1 LP, 2 LD, 3 with E, 4 gets more”

Type 1 Hyperchylomicronemia

  • Def: LP (lipoprotein lipase)
  • increase TG, cholesterol, chylomicrons
  • AR

Type 2 Familial hypercholestrolemia

  • def: LDL-R
  • increase LDL, cholesterol
  • AD

Type 3: Dysbetalipoproteinemia

  • def: ApoE
  • Increase remnants (chylomicrons, VLDL)
  • AR

Type 4: Hypertriglyceridemia

  • Overproduction of VLDL
  • VLDL, TG
  • AD

1 + 5 = 6 With six you get nixed

Type 1 and type 5
- no risk of atherosclerosis

215
Q

Tendonxanthomas

A

Type I hyperchylomicronemia

Type II familial hypercholesterolemia

216
Q

Xanthoma striatum palmare
Fat deposits on crease of palm

also see

A

Type III Dysbetalipoproteinemia

Premature atherosclerosis

AR

217
Q

Pancreatitis

Increased triglycerides

A

Type IV
Hypertriglyceridemia

AD

218
Q

MI before 20

xanthomas

A

Type II familial hypercholesterolemia

AD

219
Q

Pancreatitis
Hepatosplenomegaly
Xanthomas

A

Type I hyperchylomicronemia

AR

220
Q

No risk of atherosclerosis

A

Type I hyperchylomicronemia

Type V

221
Q

What enlarges in LN due to extreme cellular immune response (viral infection)

A

Paracortex

houses T cells

222
Q

Mediastinal LN drain

Lungs drain to what nodes

Lower rectum to anal canal (above pectinate line), bladder, vagina, cervix drains to

Testes ovaries drain to

Prostate drains to

Kidneys drains to

Anal canal below pectinate line

Uterus drains to

Scrotum and vulva drains to

Glans penis and penile urethra

A

Trachea and esophagus

Lungs –> Hilar LN

Above pectinate line= Internal iliac

Testes ovaries= Para-aortic

Prostate= Internal iliac

Kidneys= para-aortic

Anal canal below pectinate=Superficial inguinal

Uterus drains to= para-aortic LN

Scrotum and vulva= superficial inguinal

Deep inguinal LN

223
Q

Spleen location

A

9-11 ribs

224
Q

Spleen Red pulp and white pulp

marginal zone

A

White pulp

  • T cells (in PALs)
  • B cells in follicles

Red pulp
- sinusoids

marginal zone

  • between red and white pulp
  • contain macrophages and specialized B cells
  • when APC capture blood borne antigens
225
Q

Splenic dysfunction leading to susceptibility to encapsulated organism

A

Decrease IgM

Decrease complement activation

Decrease C3b opsonization

Increased susceptibility

226
Q

Vaccinate pts w/o spleen for what

A

Pneumococcal
Hib
Meningococcal

(encapsulated organisms)

227
Q

Thymoma associated with

A

Myasthenia gravis

Superior vena cava syndrome

228
Q

Myasthenia gravis

A

Ptosis
Diplopia
Worsens as day goes on

Ab to ACh receptor

229
Q

Adaptive immunity variation through

A

VDJ recombination during lymphocyte development

230
Q

MHC I vs MHC II

  • structure
  • presents
  • associated proteins
A

MHC I

  • 1 long chain, 1 short chain
  • present endogenously synthesized antigens (viral or cytosolic proteins) to CD8 T cells
  • beta2-microglobulin

MHC II

  • 2 equal length chains
  • Exogenously synthesized antigens ( bacterial proteins) to CD4
  • Invariant chains
231
Q

HLA subtypes associated with disease

  1. HLA-A3
  2. HLA-B8
  3. HLA-B27
  4. HLA- DQ2/DQ8
  5. HLA-DR2
  6. HLA- DR3
  7. HLA-DR4
  8. HLA-DR5
A
  1. HLA-A3
    - Hemochromatosis
  2. HLA-B8
    - Addison disease
    - Myasthenia gravis
    - Graves disease
  3. HLA-B27
    - Psoriatric arthritis
    - Ankylosing spondylitis
    - IBD- assoc arthritis
    - Reactive arthritis
  4. HLA- DQ2/DQ8
    - Celiac disease
  5. HLA-DR2
    - MS
    - Hay fever
    - SLE
    - Goodpasture
  6. HLA- DR3
    - DM type I
    - SLE
    - Graves disease
    - Hashimoto
    - Addison
  7. HLA-DR4
    - Rheumatoid arthritis
    - DM type I
    - Addison
  8. HLA-DR5
    - Pernicious anemia-> vit B12 def
    - Hashimoto
232
Q

HLA subtypes of Myasthenia gravis

A

HLA-B8

233
Q

HLA subtypes of Graves disease

A

HLA-B8

HLA- DR3

234
Q

HLA subtypes of Addison disease

A

HLA-B8
HLA- DR3
HLA- DR4

235
Q

HLA subtypes of seronegative arthropathies

A

HLA-B27

236
Q

HLA subtypes of celiac disease

A

HLA-DQ2/DQ8

237
Q

HLA subtypes of MS

A

HLA-DR2

238
Q

HLA subtypes of SLE

A

HLA-DR2

HLA-DR3

239
Q

HLA subtypes of hashimotos

A

HLA- DR3

HLA-DR5

240
Q

HLA subtypes DM1

A

HLA-DR3

HLA-DR4

241
Q

HLA subtypes rheumatoid arthritis

A

HLA-DR4

242
Q

HLA subtypes pernicious anemia

A

HLA-DR5

243
Q

NK cell enhances by what cytokines

A

IL-2, IL-12, IFN-alpha, IFN-beta

244
Q

Positive selection occurs where

A

Thymic cortex

245
Q

Negative selections occurs where

A

Thymic medulla

246
Q

What releases IL-12 to stimulate differentiation into Th-1 cells

A

APC cells

dendritic, macrophages

247
Q

TREG cell express on surface

A

CD3, CD4, CD25, FOXP3

248
Q

Treg cell produce

A

IL-10

TGF-beta

249
Q

Costimulation to T cell activation

A

interaction of B7 on dendritic cell (CD80/86) to CD28 on T cell

250
Q

B cell class switching

A

CD40 receptor on B cell binds CD40 L on Th cell

251
Q

Fab vs Fc

A

Fab
- antigen binding

Fc

  • complement binding
  • determines isotype IgM IgD
252
Q

Generation of antibody diversity vs generation of antibody specificity

A

Generation of Ab diversity
- VDJ recombination

Generation of Ab specificity

  • Somatic hypermutation and affinity maturation (variable region)
  • Isotype switching (constant region)
253
Q

Crosses placenta immunoglobulin

A

IgG

254
Q

In mucous membranes immunoglobulin

A

IgA

255
Q

GI tract immunoglobulin

A

IgA

256
Q

Found on B cells immunoglobulin

A

IgM

IgD

257
Q

Type I hypersensitivity immunoglobulin

A

IgE

binds mast cells and basophils

Activates eosinophils

258
Q

Sign of ongoing inflammation
Opsonin
Fixes complement
Facilitates phagocytosis

A

C-reactive protein

259
Q

Acute phase reactants

  • positive upregulate (5)
  • negative downregulate (2)
A 
C-reactive protein
Ferritin
Fibrinogen
Hepcidin
Serum amyloid A

ALbumin
Transferrin

260
Q

Hepcidin

A

Decreases iron absorption by degrading ferroportin and decrease iron release

261
Q

Transferrin

A

INternalized by macrophages to sequester iron in acute phase inflammation

262
Q

C3b

A

opsonization (phagocytosis)

263
Q

Complement does anaphylaxis

A

C3a, C4a, C5a

264
Q

C5a

A

anaphylaxis

Neutrophil chemotaxis

265
Q

Opsonins

A

C3b

IgG

266
Q

What helps prevent complement activation on self cells (RBCs)

A

Decay-accelerating factor (DAF aka CD55)

C1 esterase inhibitor

267
Q

Pyogenic infectous agents

A

Pyogenic Producing Bacteria Keeps Excess Pus

Pseudomonas 
Proteus spp
E. Coli
Bacteroides
Klebsiella 
Pasteurella
268
Q

Recurrent pyogenic sinus and respiratory infections

Type III hypersensitivity susceptible

A

C3 deficiency

269
Q

Deficiency in MAC complex

A

Susceptibly to neisseria bactteremia

270
Q

Painless swelling of face, lips, larynx and extremities

A

Hereditary angioedema

C1 esterase inhibitor deficiency

Unregulated activation of kallikrein –> increase bradykinin

Decreased C4 levels

DONT use ACE inhibitor
- pril

271
Q

Anemia
Hypercoagulability
Pancytopenia

A

Paroxysmal nocturnal hemoglobinuria (PNH)

Mutation PIGA
Deficiency: glycosylphosphatidylinositol (GPI) anchor
Deficiency: CD55 CD59 (Decay accelerating factor DAF)

Causes complement mediated lysis of RBCs

272
Q

Cytokines secreted by macrophages

A

IL-1: Fever

IL-6: stimulate acute phase proteins

IL-8: chemotactic for neutrophils

IL-12: TH1 induction

TNF-alpha: activates endothelium, recruits WBC, vascular leak

273
Q

Secreted by T cells

A

IL-2: growth of T cells

IL-3: growth and differentiation of bone marrow stem cells

274
Q

TH1 cells

A

IFN-gamma

275
Q

IL-4

A

Induces Th2 differentiation

B cell growth

Class switching to IgE and IgG

276
Q

IL-5

A

Differentiation of B cells

Class switching to IgA

Growth and differentiation of eosinophils

277
Q

What gives sputum its color

A

Myeloperoxidase is a blue green heme-containing pigment

278
Q

What of P aeruginosa functions to generate reactive oxygen species to kill competing microbes

A

Pyocyanin

279
Q

What act on local un-infected cells “priming them” for viral defense by degrading viral nucleic acid and protein

A

Interferon alpha and beta

280
Q

Marker on hematopoietic stem cells

A

CD34

281
Q

MOA of superantigens

A

S pyogenes S aurea

Cross link beta region of T cell to MHC class II on APC

Activate CD4 T cell –> massive release cytokines

282
Q

Antigenic variation classic examples

A

Salmonella
- 2 flagellar variants

Borrelia recurrentis
- relapsing fever

N gonorrhoeae
- pilus protein

Viruses: HIV, influenza, HCV

Parasites: trypanosomes

283
Q

Type I hypersensitivity

A

Free antigen cross links IgE on presensitized mast cells and basophils triggering immediate release of vasoactive amines

284
Q

Transplant region hypersensitivity

A

Type II

285
Q

SLE type of hypersensitivity rxn

A

Type III

286
Q

Bee sting type of hypersensitivity

A

Type I

287
Q

Serum sickness type of hypersensitivity

A

Type III

288
Q

Goodpasture syndrome type of hypersensitivity

A

Type II

289
Q

poison ivy type of hypersensitivity

A

Type IV

290
Q

Polyarteritis nodosa type of hypersensitivity

A

Type III

291
Q

Type I DM hypersensitivity

A

Type IV

292
Q

Immune thrombocytopenic purpura hypersensitivity

A

Type II

293
Q

Graft vs host disease hypersensitivity

A

Type IV

294
Q

Post streptococcal glomerulonephritis type of hypersensitivty

A

Type III

295
Q

PPD test type of hypersensitivity

A

Type IV

296
Q

Hemolytic disease of newborn type of hypersensitivity rxn

A

Type II

297
Q

Allergic/ anaphylactic rxn to blood transfusion

A

type 1 hypersensitivity

IgA deficient individuals

Urticaria
Pruritis
Fever
Hypotension
Wheezing
respiratory arrest
Shock

minutes to 2-3 hrs

Diphenhydramine
Continue transfusion

298
Q

Febrile nonhemolytic transfusion reaction

A

Type II hypersensitivity

Host Ab to donor HLA Ag and WBC

Fever
HA
Chills
Flushing

1-6 hrs

299
Q

Acute hemolytic transfusion reaction

A

Type II hypersensitivity

Intravascular hemolysis
ABO incompatibility

or

Extravascular hemolysis (host ab rxn against foreign ag on donor rbc)

Fever
Hypotension
tachypnea,
flank pain
hemoglobinuria (intravascular)
Jaundice (extravascular)

within 1 hr

300
Q

Transfusion related acute lung injury

A

Donor anti-leukocyte ab against recipient neutrophils and pulmonary endothelial cells

Respiratory distress
noncardiogenic pulmonary edema

WIthin 6 hrs

301
Q

Anamnestic Ab response

A

1 week later

second exposure to Ag

Hemolysis
Fever

302
Q

Anti-ACh receptor

A

Myasthenia gravis

303
Q

Anti-beta 2 glycoprotein

A

Antiphospholipid syndrome

SLE

304
Q

Anti-desmoglein

A

Pemphigus vulgaris

305
Q

Anti-hemidesmosome

A

Bullous pemphigoid

306
Q

anti-helicase

A

polymyositis

dermatomyositis

307
Q

Antimicrosomal

A

hashimoto

308
Q

Antimitochondrial

A

primary biliary cirrhosis

309
Q

antiparietal cell

anti intrinsic factor

A

pernicious anemia

310
Q

Anti thyroglobulin

A

Hashimoto

311
Q

antiphospholipase A2 receptor

A

primary membranous nephropathy

312
Q

Anti thyroid peroxidase

A

Hashimoto

313
Q

Anti-smooth muscle

A

autoimmune hepatitis type 1

314
Q

anti-TSH

A

graves

315
Q

Anti-presynaptic VG Ca channels

A

Lambert Easton

316
Q

IgA anti-tissue transglutaminase

A

Celiac disease

317
Q

MPO-ANCA/ p-ANCA

A

Microscopic polyangiitis
eosinophilic granulomatosis w/ polyangiitis (churg-strauss
ulcerative colitis

318
Q

PR3-ANCA/ c-ANCA

A

granulomatosis w/ polyangiitis (wegener)

319
Q

Anti-U1 RNP

A

mixed connective tissue disease

320
Q

6 month old boy
Recurrent bacterial infections
Low immunoglobulins

  • disease
  • deficiency
  • inheritance
  • no what
  • susceptible to
A

Bruton agammaglobulinemia

Defective tyrosine kinase

X linked

No B cell maturation
Absent B cells in peripheral blood
Decrease all Ig classes

Absent/ scanty LN and tonsils

Encapsulated Pyogenic

  • Strep pneu
  • H. influenza
321
Q

Selective IgA deficiency

A

Decreased IgA

Normal IgG, IgM

322
Q 
Small thymus
Recurrent infections
Craniofacial abnormalities
tetany 
conotruncal abnormalities
  • deletion
  • decrease
A

DiGeorge

22q11 deletion

conotruncal

  • Tetralogy of fallot
  • truncus arteriosus

Decrease T cells
Decrease PTH
Decrease Ca

Absent thymic shadow

323
Q

Eczema
Recurrent cold S. aureus abscesses
Coarse facial features
Two rows teeth

  • deficiency
  • mutation
  • impaired
  • increased
  • decreased
A

Autosomal dominant hyper-IgE syndrome
(Job syndrome)

Deficiency of Th17 cells due to STAT3 mutation

Impaired recruitment of neutrophils

Increased IgE and eosinophils
Decreased IFN-gamma

324
Q 
Oral thrush
Chronic diarrhea
Recurrent infections
Low IgG
small thyroid
  • decrease
  • deficiency
  • avoid
  • tx
A

Severe combined immunodeficiency (SCID)

Decrease B and T cells

Adenosine deaminase deficiency (AR)
or
Defective Il-2R gamma chain (most common X linked)

avoid live vaccines

Tx antimicrobial prophylaxis and IVIG
bone marrow transplant

325
Q

Ataxia
spider angiomas on face
IgA deficiency

  • defect
  • failure
  • increased
  • decreased
  • increase risk of
A

Ataxia telangiectasia

Defects in ATM gene
Failure to repair DNA ds breaks –> cell cycle arrest

Increase AFP
Decreased IgA, IgG, IgE
Lymphopenia

Incrased risk lymphoma and leukemia

Radiation sensitive try to avoid X rays

326
Q

Infections with pneumocystis, cryptosporidium, CMV
Increased IgM
Low IgG, IgA, IgE

  • defective
  • inheritence
  • failure to
A

Hyper IgM syndrome

Defective CD40L on Th cells
Class switching defect

X linked recessive

Failure to make germinal centers

327
Q 
Thrombocytopenia
Eczema
Recurrent infections
Low IgG, IgM
Increased IgE, IgA
A

Wiskott-aldrich

Mutation WASp gene
- leukocytes and platelets unable to recognize actin cytoskeletin –> defective antigen presentation

Abnormal cytoskeletal fxn

X linked recessive

328
Q

Recurrent skin and mucosal infections
No pus
Impaired wound healing
Delayed separation of umbilical cord

A

Leukocyte adhesion deficiency (type 1)

Defect LFA-1 integrin (CD18) protein on phagocytes

Impaired migration and chemotaxis

AR

Increased neutrophils
Absence of neutrophils at infection site

329
Q

Giant cytoplasmic granules in PMN
Partial albinism
Recurrent respiratory tract and skin infections
Neurologic disorders

A

Chediak- Higashi syndrome

AR

LYST gene defect
(lysosomal transport)

Defective phagocyte lysosome fusion

Pancytopenia

PAIN triangle

  • giant cytoplasmic granules
  • partial albinism
  • infections
  • neurologic disorders
330
Q

Abnormal dihydrorhadamine (flow cytometry) test

A

decrease green fluorescence

Chronic granulomatous disease

Defect NADPH oxidase

331
Q

Nitroblue tetrazolium dye reduction test fails to turn blue

A

Chronic granulomatous disease

Defect NADPH oxidase

332
Q

Hyperacute transplant rejection

  • time line
  • seen in tissue
  • cells
  • rxn
A

Within minutes

Cyanotic and mottled

Pre-existing recipient antibodies to donor antigen

Type II hypersensitivity rxn
Activate complement

333
Q

Acute transplant rejection

  • timeline
  • cells
  • rxn
  • seen in tissue
A

Weeks to months
< 6 months

CD8 T cells against donor MHC
(type IV)

Vasculitis of graft vessels with interstitial lymphocytic infiltrate

334
Q

Chronic transplant rejection

  • timeline
  • cells
  • seen in tissue
  • rxn
A

Months to years

CD4 to APC presenting donor peptides

Type II and IV

T cells react and secrete cytokines

  • proliferation of vascular smooth muscle
  • parenchymal atrophy
  • interstitial fibrosis

Arteriosclerosis

335
Q

Graft vs host disease

  • cells
  • rxn
  • symptoms
  • seen in tissue
A

T cell proliferate in the IC host and reject host cells

Type IV hypersensitivity

Maculopapular rash
Jaundice
Diarrhea
Hepatosplenomegaly

336
Q

Cell mediated transplant hypersensitivity

A

Acute transplant rejection
or
Chronic transplant rejection

337
Q

Cyclosporine

  • type
  • MOA (2)
  • uses (2)
  • Adverse effect
A

Calcineurin inhibitor

Binds cyclophilin

Blocks T cell activation by preventing IL-2 transcription

Psorasis
Rheumatoid arthritis

Nephrotoxicity
HTN
Hyperlipidemia
Neurotoxicity
Gingival hyperplasia
Hirsutism
338
Q

Tacrolimus

  • type
  • MOA (2)
  • uses
  • adverse effect
A

Calcineurin inhibitor

Binds FK506 binding protein (FKBP)

Blocks T cell activation by preventing IL-2 transcription

Neurotoxicity
Increased risk diabetes
Nephrotoxic

339
Q

Sirolimus

  • type
  • MOA
  • use
  • adverse effects
A

mTOR inhibitor

binds FKBP

Blocks T cell activation adn B cell differentiation by preventing reponse to IL-2

Kidney transplant rejection prophylaxis

Pancytopenia
Insulin resistance
Hyperlipidemia

NOT nephrotoxic

340
Q

Basiliximab

  • type
  • moa
  • adverse effect
A

Monoclonal Ab

Blocks IL-2R

Edema
HTN
Tremor

341
Q

Azathioprine

  • type
  • MOA
  • uses
  • adverse effect
A

Antimetabolite precursor of 6-mrecaptopurine

Inhibits lymphocyte proliferation by blocking nucleotide synthesis

RA
Chrons
Glomerulonephritis
other autoimune

Pancytopenia

342
Q

Mycophenolate mofetil

  • MOA
  • Use
  • Adverse effect
  • assoc w/
A

Reversibly inhibits IMP dehydrogenase

Preventing purine synthesis of B and T cells

Lupus nephritis

GI upset
Pancytopenia
HTN
Hyperglycemia

Assoc w/ invasive CMV infxn

343
Q

Corticosteroids

  • MOA (3)
  • uses
  • adverse effects
A

Inhibit NF-kB

Suppress both B and T cell function by decreasing transcription of many cytokines

Induce T cell apoptosis

Tx for many autoimmune and inflammatory disorders

Adverse

  • cushing syndrome
  • osteoporosis
  • hyperglycemia
  • diabetes
  • amenorrhea
  • peptic ulcer
  • avascular necrosis
344
Q

Aldesleukin

A

IL-2 recombinant cytokine

Renal cell carcinoma
Metastatic melanoma

345
Q

Epoetin alfa

A

Erythropoietin recombinant cytokine

Anemias

346
Q

Filgrastim

A

G-CSF recombinant cytokine

Recovery of bone marrow and WBC count by granulocyte stimulation

347
Q

Sargramostim

A

GM-CSF recombinant cytokine

Recovery of bone marrow and WBC count by granulocyte and monocyte stimulation

348
Q

IFN-alpha recombinant cytokine

A 
Chronic hep B and C
kaposi sarcoma
malignant melanoma
hairy cell leukemia
condyloma acuminata 
renal cell carcinoma
349
Q

IFN-beta recombinant cytokine

A

multiple sclerosis

350
Q

IFN-gamma recombinant cytokine

A

Chronic granulomatous disease

351
Q

Romiplostim

A

Thrombopoietin analog

thrombocytopenia

352
Q

Eltrombopag

A

Thrombopoietin receptor analog

Thrombocytopenia

353
Q

Oprelvekin

A

IL-11 recombinant cytokine

Thrombocytopenia

354
Q

Bevacizumab

  • type
  • use
  • side effect
A

Monoclonal Ab against VEGF

Uses

  • Metastatic cancer
  • colorectal cancer, renal cell carcinoma, non-small cell lung cancer
Impaired wound healing
Hemorrhage
- Hemoptysis
- Epistaxis
- GI bleeding
355
Q

Cetuximab

A

EGFR

Stage IV colorectal cancer
head and neck cancer

K-RAS positive colon cancer

356
Q

Rituximab

A

targets CD20

B cell nonhodgkin lymphoma
CLL
Rheumatoid arthritis
ITP

357
Q

Trastuzumab

A

Ab against HER2/neu

Breast cancer
gastric cancer

358
Q

Adalimumab
Certolizumab
Golimumab
Infliximab

A

Soluble TNF-alpha

IBD
RA
Ankylosing spondylitis
Psoriasis

359
Q

Daclizumab

A

CD25 (part of IL-2 receptor)

Relapsing MS

360
Q

Abciximab

A

platelet glycoproteins IIb/IIIa

Antiplatelet agent for prevention of ischemic complications in patients undergoing percutaneous coronary intervention

361
Q

Denosumab

A

targets RANKL

Osteoporosis
Inhibits osteoclast maturation

362
Q

Digoxin immune Fab

A

Digoxin

Antidote for digoxin toxicity

363
Q

Omalizumab

A

IgE

Refractory allergy asthma
Prevents IgE binding to FceRI

364
Q

Palivizumab

A

RSV F protein

RSV prophylaxis for high risk infants

365
Q

Carbamoyl phosphate synthetase (1 and 2)

A

CPS-1

  • urea cycle
  • mitochondria
  • source of nitrogen: ammonia

CPS-2

  • pyrimidine synthesis
  • cytosol
  • source of nitrogen: glutamine
366
Q

What do you need to make a pyrimidine

sources of carbon

A

Aspartate, CO2, Glutamine, ATP

Carbon: aspartate, Co2

367
Q

What do you need to make a purine

source of carbon

SOurce of nitrogen

A

Aspartate, Co2, glutamine, glycine, tetrahydrofolate

carbon: Co2, tetrahydrofolate and glycine

Nitrogen: glutamine and aspartate

"Cats PURRR until they GAG and Cough on Fur balls
PURRR= purine syn
GAG= glycine, aspartate, glutamine
Cough= Co2
Fur= folic acid or tetrahydrofolate
368
Q

What does PRPP provide for purine synthesis?

A

Sugar and phosphate for synthesis

369
Q

Orotic aciduria

A

Deficiency of UMP synthase

Orotic acid builds up in blood spills into urine

AR

Megaloblastic anemia

NO hyperammonemia

tx uridine supplement

370
Q

Inhibits prokaryotic RNA polymerase

Inhibits prokaryotic topoisomerase

A

Rifampin

Fluroquinoles

371
Q

Which eukaryotic DNA polymerase performs this function

1) Replicates lagging strand
2) Synthesizes RNA primer
3) Repairs DNA
4) Replicates mitochondrial DNA
5) Replicates leading strand DNA

A

1) DNA polymerase delta (first 20 alpha)
2) Alpha
3) Beta
4) Gamma
5) Epsilon (alpha first 20)

372
Q

Sulfa allergy

A

“Sulfa Pills Frequently Cause Terrible Allergy Symptoms”

Sulfasalazine
Probenecid
Furosemide
Celecoxib
Thaizide (TMP-SMX)
Acetazolamide
Sulfonyureas
373
Q

Enzyme needed for lactose breakdown into what two things

A

beta-galactosidase

Glucose
Galactose

374
Q

Lac operon requires what two things

A

CAP (activating protein)
- absent glucose

Lac repressor protein

  • allolactose to bind to and change shape
  • excess lactose
375
Q

Rifampin

A

4Rs
Inhibits RNA polymerae
Red secretions
RRRevs up cytochrome P450

376
Q

What type of DNA binding motif allows protein to incorporate into major groove of DNA double helix

A

Helix-loop- helix

377
Q

5’ cap

A

7- methyl-guanosine cap

provided by SAM

378
Q

Polyadenylate 3’ end

A

200 or 250 adenines added

poly-A-polymerase
- creates tail without DNA template

signal to get started AAUAAA

379
Q

Protein Translation

- initiation

A

Initiation factor 2 (IF-2) binds to 30S then methionine tRNA

Then when 50S comes along, hydrolyzes the GTP on IF which release energy and allows 50S to attach to 30S

380
Q

Enzyme used to elongate protein

A

peptidyltransferase

381
Q

Elongation factor in prokaryotes

Elongation factor in eukaryotes

A

Prokaryotes
- Elongation factor G

Eukaryotes
- Elongation factor 2

382
Q

Antibiotics bind where and fxn

  1. Aminoglycosides
  2. Tetracycline
  3. Chloramphenicol
  4. Clindamycin
  5. Macrolides (erythromycin, azothromycin)
  6. Linocmycin
  7. Linezolid
  8. Streptogramins
A
  1. Aminoglycosides
    - binds 30S before initiation so tRNA cant bind
  2. Tetracycline
    - Binds 30S later in process
    - prevent aminoacyl tRNA from getting to the A site
  3. Chloramphenicol
    - Inhibits peptidyltransferase part of 50S subunit
    - 23S specifically
  4. Clindamycin
    - Binds to 50S blocks translocation
  5. Macrolides (erythromycin, azothromycin)
    - Binds to 50S inhibits translocation step
  6. Linocmycin
    - Binds to 50S blocks translocation
  7. Linezolid
    - Binds to 50S inhibits initiation
  8. Streptogramins
    - Binds to 50S
383
Q

What enzyme matches amino acids to tRNA

A

aminoacyl tRNA synthetase

384
Q

Boot shaped heart

A

RVH –> tetralogy of fallot

385
Q

Cafe au lait spots

A

NF1

McCune albright syndrome

386
Q

Tuberous sclerosis

A

Seizures
intellectual disability
Angiofibromas (reddish brown bumpson nose and cheeks)

387
Q

Ragged red fibers on biopsy

A

Mitochondrial myopathies

388
Q

What zoonotic bacterium causes each

1) Cat scratch fever
2) Lyme disease
3) Recurrent fever from variable surface antigens
4) Bloody diarrhea
5) Q fever
6) Tularemia
7) Leptospirosis
8) Cellulitis and osteomyelitis from cat or dog bites

A

1) Cat scratch fever
- Bartonella

2) Lyme disease
- Borrelia burgdorferi

3) Recurrent fever from variable surface antigens
- Borrelia recurrentis

4) Bloody diarrhea
- Campylobacter (puppies, livestock, fecal oral, sexual)

5) Q fever
- Coxiella burnetti (spores from tic feces, cattle placenta)

6) Tularemia
- Francisella tularesis

7) Leptospirosis
- Leptospira spp (animal urine)

8) Cellulitis and osteomyelitis from cat or dog bites
- Pasteurella multocida

389
Q

Steps to end up w/ ATP

A

To make ATP need oxidative phosphorylation

Need NADH for Ox phos

Get NADH from TCA

Need Acetyl-CoA for TCA cycle

Get Acetyl-CoA from decarboxylation of pyruvate

Get pyruvate from glycolysis of glucose

390
Q

GLUT Transports

GLUT 1

GLUT 2

GLUT 3

GLUT 4

GLUT5

A

GLUT1

  • RBC
  • Endothelium of BBB
  • mediates basal glucose uptake (low level)
  • Takes up glucose regardless of insulin

GLUT2

  • Found on cells that regulate glucose
  • Hepatocytes, pancreatic beta cells

GUT3

  • Neurons
  • Placenta

GLUT4

  • Skeletal muscle
  • Adipose tissue
  • INSULIN dependent

GLUT5
- Fructose uptake in GI tract

391
Q

Fasting on glycolysis

A

Fasting

  • High glucagon
  • Low insulin

Glucagon induces adenylate cyclase
Increase cAMP
Active protein kinase A
Phosphorylated PFK-2/FBP-2

FBP-2 active –> more Fructose 6 phosphate and less fructose 2,6 bisphos

Decreased stimulation of glycolysis and production of pyruvate

Increase glucose

392
Q

Gluconeogenesis occurs where

A

only in cells designed to share glucose

Hepatocytes
Kidney
Intestinal epithelium

393
Q

Cofactors for pyruvate dehydrogenase

A

Tender loving care for No-one

Thiamine (B1)
Lipoic acid
Coenzyme A (B5)
FAD (B2)
NAD (B3)
394
Q

Found in high levels in the blood due to being carriers for nitrogen from tissues

A

Alanine

Glutamine

395
Q

Transaminases require what cofactor

A

Pyridoxal phosphate

- derivative of vit B6

396
Q

G6PD deficiency drugs

A

” Spleen Purges Nasty Inclusions From Damaged Cells”

Sulfonamides
Primaquine
Nitrofurantonin
Isoniazid
Fava beans
Dapsone
Chloroquine
397
Q

Symptoms of serotonin syndrome

A

Muscle rigidity
Hyperthermia
Cardiovascular collapse

398
Q

Symptoms of neuroleptic malignant syndrome

A 
Muscle rigidity
Hyperpyrexia (high fever) 
Myoglobinuria
Autonomic instability
- tachycardia
Delirum
Mental status changes
399
Q

Break down of

  • dopamine –>
  • NE –>
  • Epi –>

by what

A 
Monoamine oxidase (MAO)
Catechol-o-methyltransferase

Dopamine –> HVA

NE –> VMA

Epi –> Metanephrine

400
Q

Two things to know in urea cycle

A

RL
- CPS-1 in mitochondria

Ornithine transcarbamylase
- carbamoyl phosphate –> citrulline

401
Q

Which vitamin matches each of the following statements?

1) Used in oxidation/ reduction reactions
2) Used in carboxylation reactions
3) requires intrinsic factor for absorption
4) Used by pyruvate dehydrogenase and alpha ketoglutarate dehydrogenase
5) Deficiency can be cause by isoniazid use
6) Cobalt is found within this vitamin
7) Critical for DNA synthesis

A

1) B2 (riboflavin) B3 (niacin)
2) B7 (biotin) Vit K
3) B12
4) B1 thiamine
5) B6
6) Vit B12 (cobalamin)
7) Folate, Vit B12

402
Q

Angular cheilosis

A

B2 (riboflavin)

B6 (pyridoxine)

403
Q

Glossitis

A

B2 (riboflavin)
B6 (pyridoxine)
B9 (folate)

404
Q

Markers on dendritic cells

A

B7 protein (CD80 or CD86)

CD40

405
Q

Birbeck granule

A

Dendritic cell in patient with langerhans cell histiocytosis

Excess proliferatino of langerhan cells but not good at Ag presentation

S-100
CD1a

406
Q

VDJ begins at

initiated by

A

Begins with breaks in the dsDNA at Recombination Signal Sequences (RSSs)

RAG-1 and RAG-2

407
Q

Thalidomide

  • MOA
  • Uses
  • Side effect
A

TNF-alpha production

erythema nodosum leprosum
MM

Phocomelia

408
Q

Hypocalcemia

Immune deficiency

A

Di George

409
Q

Chronic transplant rejection

A

Submucosal inflammation

Granulation
Scarring
Bronchiolits obliterans

(small airways)

410
Q

Formation of lactate acid during extreme exercise is due to depletion of

A

NAD

411
Q 
Rash
Severe respiratory infections
Normal WBC
Decreased platelets
Small deformed platelets in smear
A

Wiskott aldrich

Eczema
Recurrent infections
Thrombocytopenia

412
Q

HepB vaccine

A

Utilizes recombinant HBsAg

Collection of envelope glycoproteins

Impair viron entry into hepatocyte

413
Q

What uses zinc-finger motifs

A

Transcription factors

Only intracellular receptors located in cytoplasm or nucleus can act as transcription factors

These bind lipid-soluble hormones that can cross the membrane

Steroid
Estogen
Aldosterone
Cortisol
Thyroid hormone
Fat soluble vitamins
414
Q

Compensatory mechanism in essential fructosuria

A

Fructose –> (hexokinase) –> Fructose 6 phosphate

415
Q

What prevents fungal infections

A 
T lymphocytes (superficial infxn) 
Neutrophils (disseminated)
416
Q

mRNA processing outside nucleus in cytoplasm

A

Interaction w/ P bodies

Exonucleuses
decapping enzymes
microRNA

mRNA may be degraded or stored in P bodies for future translation

417
Q

Infant
Lethary, vomiting, poor feeding
Dehydrated
Decreased muscle tone
Metabolic acidosis with elevated anion gap, ketosis and hypoglycemia
Elevated propionic acid level due to defective conversion Propionyl-CoA to methylmalonyl-CoA

A

Organic acidemia

Cant use

  • Valine
  • Isoleucine
  • Methionine
  • Threonine

AM- STEP1 (20 decks)

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