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Biochem / Immuno Review Flashcards

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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
Origins of replication for DNA vs RNA
Eukaryote - linear - multiple origins of replication Prokaryote - Circular - Single origin of replication
26
Defective nucleotide excision repair leads to what diease
xeroderma pigmentosum Prevents repair of pyrimidine dimers
27
Base excision repair begins with
Glycosylase removes an altered base and creates AP site (apurinic/ apyrimidinic)
28
Mismatch repair occurs during what phase of cell cycle defective in
S phase Defective in lynch syndrome (hereditary nonpolyposis colorectal cancer)
29
Nonhomologous end joining is defective in
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)
30
Promoter site - what binds - sequence
RNA polymerase II binds TATA CAAT
31
Actinomycin D
inhibits RNA polymerase in both prokaryotes and eukaryotes
32
Inhibits DNA-dependent RNA polymerase in prokaryotes
Rifampin
33
mRNA quality control occurs where
at cytoplasmic processing bodies (p-bodies) which contain exonucleases, decapping enzymes and microRNA
34
Anti-smith Ab are antibodies to
SLE Antibodies to spliceosomal snRNPs
35
Part called that is removed with spliceosome
Lariat
36
Part of DNA removed
Introns Introns stay IN the nucleus
37
Posttranscriptionally regulate gene expression of mRNA by targeting 3' untranslated region for degradation or translational repression
microRNA
38
Component of ribosome that catalyzes peptide bond formation during translation
rRNA
39
tRNA structure
Acceptor stem= ACC T arm= binds tRNA to ribosome Anticodon loop - no functional role D arm - dihydrouridine residues - how aminoacy-tRNA synthetase recoginzes tRNA
40
tRNA binds to mRNA in which way
Antiparallel fashion
41
Initiation Elongation Termination of protein synthesis powered by
GTP ATP- tRNA activation GTP- tRNA (going places, translocation)
42
Tumor suppressor pathway
p53 induces p21 which inhibits CDKs --> hypophosphorylation (activation) of Rb --> inhibition of G1-S progression
43
Permanent cell types Stable cell types Labile cell types
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
44
Peptides formed where Steroids formed where
NE, GABA, ACh, Dopamine, Epinephrine, serotonin - formed in rough ER Steroids= smooth ER
45
What all occurs in mitochondria
TCA cycle Fatty acid oxidation Electron transport chain
46
Oxidation of long and branched chain fatty acids also oxidation of?
Peroxisomes - via beta oxidation also amino acids and ethaol
47
Hydrogen peroxide degradation occurs where
Peroxisomes
48
Degradation of ubiquitinated proteins occurs where
Proteasomes
49
Coarse facial features Clouded corneas Restricted joint movements High plasma level of lysosomal enzymes Fatal childhood - names - defect - failure - what happens
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
50
Vesicular trafficking proteins
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)
51
Disease of peroxisome
Zellweger syndrome - hypotonia - seizures - hepatomegaly - early death Refsum - scaly skin - ataxia - cataracts/ night blindness - shortening 4th toe - epiphyseal dysplasia
52
Microfilament Intermediate filament
Microfilament - actin, microvilli Intermediate - desmin, cytokeratin, lamins, neurofilaments
53
Vimentin Desmin GFAP
Vimentin - mesenchymal tissues (fibroblast, endothelial cells, macrophages) - sarcoma, meingioma Desmin - muscle - rhabdomyosarcoma GFAP - NeuroGlia - (astrocytes, schwann cells, olidodendrocytes) - Astrocytoma, glioblastoma
54
Transport along microtubule
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)
55
Drugs that act on microtubules
Microtubules Get Constructed Very Poorly ``` Mebendazole (antihelminthic) Griseofulvin (antifungal) Colchicine (antigout) Vincristine/Vinblastine (anticancer) Paclitaxel (anticancer) ```
56
Proteins help form the fibrillar network that lines the inside of the nuclear envelope Regulate gene transcription
Lamins
57
Secures organelles inside the cytosol and provides resistance to mechanical stress
Vimentin
58
Primary ciliary dyskinesia
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
59
Cilia structure
9 pairs of 2 microtubes are in a circle Basal body: 9 microtubule triplets
60
Na/K pump
3 Na out of cytosol --> Extracellu 2 K in to cytosol ATP on cytosolic side Pumpkin= pump K in
61
Digoxin MOA
directly inhibits Na/K ATPase which leads to indirect inhibition of Na/Ca exchange Increase Ca concentration Increase cardiac contractility
62
Collagen types
Type I: Bone Type II: cartilage carTWOlage Type III: vascular (ehlers-danlos) ThreE D Type IV: basement membrane - Alport - Good pasture
63
Collagen made up
Gly- Proline- lysine
64
Vit C in collagen formation
hydroxylation of proline and lysine requires Vit C
65
Osteogeneis imperfecta collagen defect
Cant form triple helix of collagen Glycosylation step
66
Ehlers Danlos collagen problem occurs which step
Proteolytic processing Problem with cleavage of disulfide-rich terminal region of pro-collagen --> insoluble tropocollagen Cross linking
67
Osteogenesis imperfecta - gene defect - inheritence - collagen involved - symptoms (3)
COL1A1 and COL1A2 AD Type I collagen Multiple fractures Blue sclerae Hearing loss
68
Hyperextensible skin Hypermobile joints - assoc with - mutation - collagen
Ehlers-Danlos Berry and aortic aneurysms Classic type - Type V collagen - COL5A1, COL5A2 Vascular type - deficent type III collagen
69
Brittle kinky hair Growth retardation Hypotonia
Menkes disease X linked Impaired copper absorption defect ATP7A decreased activity of lysyl oxidase
70
Elastin rich in
Proline Glycine Lysine
71
Elastin broken down by inhibited by
Elastase Elastase inhibited by alpha 1 antitrypsin
72
Defect in COL1A1 and COL1A2
Osteogenesis imperfecta
73
Tall with long limbs Hypermobile joints Long fingers and toes subluxation of lens upward - inheritence - mutation - associated with
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
74
What do you need for polymerase chain reaction (PCR)
Dont need exact nucleotide sequence Need flanking region known to make primer
75
What do you need for gel electrophoresis
Need restriction sites
76
Types of blots
SNoW DRoP Southern: DNA Northern: RNA Wester: protein
77
Used for fetal RBCs in mother's blood and immunodeficiencies, CD4 count in HIV
Flow cytometry
78
Used for in genotyping, genetic testing, cancer mutation
Microarrays
79
What is used in reverse transcriptase PCR
cDNA (lacks introns)
80
Patients with the same genotype have varying phenotypes
Variable expressivity
81
Not all individuals with a mutant genotype show the mutant phenotype
Incomplete penetrance
82
One gene contributes to multiple phenotypic effects
Pleiotrophy
83
Loss of heterozygosity
If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/ mutated before cancer develops
84
Mutation in mitochondrial DNA
Heteroplasmy
85
Mutations at different loci cause same phenotype
Locus heterogeneity
86
More than 1 genetic make up of cells occurring in same individual
Mosaicism
87
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
C. Mosaicism
88
Unilateral cafe-au-lait spots Fibrous replacement in bone on one side Precocious puberty (puberty at 2 y.o) Enlarge thyroid
McCune Albright syndrome Mosaicism Mutation of G-protein signaling
89
Different mutations in the same locus produce same phenotype
Allelic heterogeneity Beta-thalassemia
90
Offspring receives 2 copies of chromosome from 1 parent and no copies from other parent
Uniparental disomy
91
Hardy-weinberg population genetics Frequency of X linked recessive disease - in males= - in females=
``` Males= q Females= q ^2 ```
92
Eats everything Obese Intellectual disability Hypotonia Other key symptom
Prader-Willi Maternal imprinting - Mom gene= silent - Dad gene= mutated Hypogonadisum
93
Inappropriate laughter Intellectual disability Other key symptom
AngelMan syndrome Paternal imprint - Dad gene= silent - Mom= mutated Seizues Ataxis
94
X linked dominant disorder
Fragile X Hypophosphatemic rickets - Vit D resistant rickets Alport syndrome
95
Mitochondrial inheritance what is seen in progeny
All offspring of affected females show signs of disease
96
Muscle weakness Lactic acidosis CNS disease Muscle biopsy - Ragged red fibers - failure of - biopsy due to
Mitochondrial myopathies secondary to failure in oxidative phosphorylation Ragged red fibers due to accumulation of disease mitochondria
97
Autosomal dominant disease
``` 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 ```
98
Autosomal recessive disease
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
99
X linked recessive
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
100
Cystic fibrosis - gene and chromosome - affects - mutation causes - decrease in - overall effect - Labs
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
101
Cystic fibrosis infections
early infancy: s. aureus adolescence: pseudomonas
102
Cystic fibrosis presentation
``` Absence vas deferens Bronchitis adn bronchiectasis - reticulonodular parttern on CXR - opacification of sinuses - Nasal polyps - clubbing of nails ```
103
Weakness in pelvic girdle muscles Progresses superiorly - death due to - labs
Duchenne Death= cardiomyopathy Increased CK and aldolase
104
Becker muscular dystrophy
X linked disorder | Non-frameshift deletion
105
Muscle weakness Cataracts Early balding in men Gonadal atrophy
Myotonic type I AD CTG trinucleotide repeat in DMPK gene --> abnormal expression of myotonin protein kinase
106
Large Jaw Macroorchidism Long face Large ears - inheritence - mutation - causes - assoc with
Fragile X syndrome X linked dominant Trinucleotide repeat in FMR1 (CGG) --> hypermethylation Autism Mitral valve prolapse
107
Trinucleotide repeat expansion diseases
Try HUNTing for MY FRAGile Fried eggs Huntington Myotonic type I Fragile X Friedreich ataxia
108
Labs Down syndrome
Decreased alpha-fetoprotein Increased beta hCG Decreased estriol Increased inhibin A
109
CTG CGG CAG GAA
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
110
Edwards syndrome trisomy 18 - signs - labs
Rocker bottom feet Overlapping fingers Low set Ears Micrognathia Decreased - alpha feto protein - hCG - estriol - inhibin (normal)
111
Patau syndrome trisomy 13 - signs - labs
``` Rocker bottom feet Microcephaly cleft lip/palate holoprosencephaly polydactyly ``` decreased beta hCG Decreased PAPP-A
112
Genetic disorder by chromosome
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
113
Chromsome 3
- VHL | - renal cell carcinoma
114
Chromosome 4
4 - ADPKD (PKD2) - achondroplasia - huntington
115
Chromosome 5
5 - cri-du-chat - familial adenomatous polyposis
116
Chromosome 6
6 | - hemochromatosis
117
Chromosome 7
7 - Williams syndrome - cystic fibrosis
118
Chromosome 9
9 | - Freidreich ataxis
119
Chromosome 11
11 - Wilms - sickle cell - beta thalassemia - MEN1
120
Chromosome 13
13 - Patau - Wilson - Rb1 - BRCA2
121
Chromosome 15
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
122
Chromosome 16
16 - ADPKD (PKD1) - alpha thalassemia
123
Chromosome 17
17 - NF1 - BRCA1 - p53
124
Chromosome 22
22 - NF2 - Digeorge
125
X chromosome diseases
X - Fragile X - X linked agammaglobulinemia - klinefelter
126
Cri-du-chat
Microdeletion of short arm of chromosome 5 Microcephaly High pitched crying/ meowing epicanthal folds VSD
127
``` Elfin facies Intellectual disability Hypercalcemia Extremely friendly cardiovascular problems ```
Williams syndrome Microdeletion of long arm on chr 7 elastin gene Increased sensitivity to Vit D
128
``` B1 B2 (produce) B3 (produce) B5 (produce) B6 B7 B9 B12 C ```
B1= thiamine B2= riboflavin -FAD, FMN B3= Niacin - NAD B5= Pantothenic acid -CoA B6= pyridoxine B7= biotin B9= Folate B12= cobalamin
129
Night blindness Dry scaly skin Bitot spots
Vit A def
130
Vit B1 uses
think ATP alpha ketoglutarate dehydrogenase Transketolase Pyruvate dehydrogenase Ber1 Ber1
131
Dry Beri Beri
polyneuritis | Symmetrical muscle wasting
132
Wet Beri Beri
High out cardiac failure dilated cardiomyopathy edema
133
Fissures at corners of mouth
Vit B2 (riboflavin)
134
Vit B3 derived from
Niacin Derived from tryptophan
135
Hartnup - inheritence - deficency - causes
AR deficency of tryptophan no niacin Hyperpigmentation of sun exposed limbs Disorientation Diarrhea
136
Pellagra can be caused by
Hartnup Malignant carcioid syndrome ( increased tryptophan metabolism) Isoniazid (decreased Vit B6)
137
Alopecia deficiency in
Vit B5 pantothenic acid part of CoA
138
Needed for synthesis of neurotransmitters
Vit B6 (pyridoxine)
139
Vit B9 deficiency causes
Phenytoin Sulfonamides Methotrexate
140
``` Delayed wound healing Decreased adult hair Loss of taste Loss of smell Rash around mouth and anus ```
Zinc deficiency
141
Inhibits alcohol dehydrogenase
Fomepizole
142
Limiting agent in ethanol metabolism
NAD+
143
Hydroxylase does
Adds hydroxyl group (-OH)
144
Carboxylase does
Transfers CO2 gorup w/ help of biotin
145
Pyruvate dehydrogenase complex makes
Acetyl-CoA + CO2 + NADH
146
What forms succinyl CoA Succinyl CoA form
Methylmalonyl-CoA --> methylmalonyl-CoA mutase + B12 Without B12 Increase methylamlonyl CoA Succinyl CoA --> +B6 --> Heme
147
FBPase 2 vs PFK2 | - fasting state
Fasting - increase glucagon - increase cAMP - increase protein kinase A - Increase FBPase More gluconeogenesis
148
Garlic breath Rice water stools Vomiting QT prolongation - inhibits - tx
Arsenic Inhibits lipoic acid Inhibits pyruvate dehydrogenase No acetyl CoA or NADH Dimercaprol
149
Pyruvate dehydrogenase complex deficiency
Build up pyruvate --> lactate and alanine Alanine --> neurlogical defects Lactic acidosis X linked
150
Only major step in tca cycle that doesnt require NAD
Oxaloacetate --> citrate | citrate synthesis
151
Inhibits part of electron transport chain
Complex I= rotenone Complex III= antimycin A Complex IV= cyanide, CO Complex V= oligomycin
152
ATP synthase inhibitor
Oligomycin Inhibits complex V
153
Uncoupling agents
2,4 Dinitrophenol Aspirin Thermogenin in brown fat
154
Gluconeogenesis irrevesible enzmes - locations - requires
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
155
Sites of HMP shunt (pentose phosphate pathway)
Lactating mammary glands liver Adrenal cortex RBCs
156
Asymptomatic | Fructose in blood and urine
Essential fructosuria Defect in fructokinase
157
``` Negative urine dipstick Hypoglycemia Jaundice Cirrhosis Vomiting ```
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
158
Galactokinase deficiency
AR Deficency galactokinase Galactosemia Infantile cataracts
159
``` Child just began feeding Failure to thrive Jaundice Hepatomegaly Infantile cataracts ``` - deficiency - inheritence - accumulation - serious defects due to
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
160
Diabetes and cataracts
Increased glucose --> glycation of lens protein Hyperglycemia --> increased formation of sorbitol faster than metabolized to fructose Sorbitol increase osmotic pressure - osmotic cellular injury
161
Enzyme for glucose to sorbitol Sorbitol to fructose
Aldose reductase Sorbitol dehydrogenase
162
Essential amino acids
Private (PVT) TIM HaLL ``` Phenylalanine Valine (VAL) Threonine Tryptophan Isoleucine Methionine (MET) Histidine (HIS) Leucine Lysine ```
163
Basic amino acids
Histidine Lysine Arginine
164
Urea cycle produces
pyruvate | acetyl CoA
165
``` Tremor (asterixis) Slurring speech Somnolence Vomiting Cerebral edema Blurring vision ``` Tx
Hyperammonemia Tx Rifaximin
166
Progressive development of spastic diplegia (paralysis of parts of body on both sides) Abnormal movements Growth delay
Arginase deficiency Elevated levels arginine Urea and ornithine not produced No hyperammonemia
167
Orotic acid in blood Decreased BUN Hyperammonemia No megaloblastic anemia - disorder of - inheritence
Ornithine transcarbamylase deficiency Urea cycle disorder X linked
168
Phenylalanine forms
Tyrosine --> thyroxine (BH4) Tyrosine --> DOPA (BH4) DOPA --> melanin DOPA --> Dopamine Dopamine --> NE (vit C)
169
Tryptophan forms
Niacin (B2, B6) Serotonin (BH4, B6)
170
Glutamate forms
GABA (B6)
171
Arginine forms
Creatine Urea NO (BH4)
172
Dopamine is formed from AA
Phenylalanine (w/ BH4)
173
Heme is formed from what AA
Glycine (w B6)
174
GABA is formed form what AA
Glutamate (w/ B6)
175
Tyrosine is formed from what AA
Phenylalanine (w/ BH4)
176
Nitric oxide is formed from what Aa
Arginine (w/ BH4)
177
Norepinephrine --> Epinephrine requires
Phenylethanolamine-N-methyltransferase + SAM
178
``` Musty odor Seizuers Intellectual disability Fair skin eczema ``` - deficency - inheritence
PKU Phenylalanine hydroxylase Tetrahydrobiopterin (BH4) AR
179
Vomiting Poor feeding Urine smells sweet -inheritence
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
Bluish black ear cartilage Sclerae urine turns black
Alkaptonuria AR deficiency homogentisate oxidase
181
Tall person Sublux lens down osteoporosis kyphosis - inheritence - defect - tx
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
Hexonal cystine stones
Cystinuria Defect of renal PCT and aminoacid transport taht prevents reabsroption of COLA (cystine, ornithine, lysine, arginine)
183
Stimulates adenylate cyclase
Gl ucagon | Epinephrine
184
PAS stain identifies
Glycogen
185
Glycogen storage disease inheritence
AR
186
``` Hepatomegaly Gout Fasting hypoglycemia Seizure Lactic acidosis ```
Von Gierke deficiency: Glucose-6-phosphatase
187
Cardiomegaly severe muscle weakness hypotonia exercise intolerance
Pompe disease deficiency alpha 1,4 glucosidase in lysosome
188
Hypoglycemia Hepatomegaly Normal lactate levels
Cori disease deficiency debranching enzyme alpha-1,6, glucosidase
189
Muscle cramps | Red urine w/ exercise
McArdle disease GLycogen phosphorylase in skeletal muscle
190
Cherry red spot Lysosomes onion skin No hepatosplenomegaly Progressive neurodegeneration
TaySachs deficient: Hexosaminidase A accumulate: GM2 ganglioside AR tAy-saX heXosaminidase A " a Gang of 6 small Jews"
191
Painless papules on lower abdomen (small red/blue marks) peripheral neuropathy glomerulopathy (renal failure) Decreased sweat ( hypohidrosis)
Fabry disease XR Deficient: alpha- galactosidase Accumulation: ceramide trihexoside; globotriaosylceramide "my fabrite activity is ceramics class we made a galaXy"
192
``` 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 ```
(C) Arylsulfatase A Metachromatic leukodystrophy Central and peripheral demyelination with ataxia and dementia Deficiency arylsulfatase A Accumulation cerebrosulfate AR
193
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and dementia Deficiency arylsulfatase A Accumulation cerebrosulfate AR
194
Krabbe diease
``` 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
Numbness and tingling in extremities Blurriness in eyes Developmental delays
Krabbe Deficiency: galactocerebrosidase Accumulated: galactocerebroside psychosine AR
196
``` Hepatomegaly Pancytopenia Osteoporosis Avascular necrois of femur Lipid laden marcophages - crumped tissue paper ``` Cherry red spot
Gaucher disease Def: glucocerebrosidase Accum: glucocerebroside AR " oh my gauch hes such a bro" crying voice= tissue paper cytoplasm
197
Progressive neurodegeneration Hepatosplenomegaly Lipid-laden macrophages cherry red spot
Niemann-Pick disease Def: sphingomyelinase Acc: sphingomyelin AR "Pick your BIG nose with your sphinger"
198
Hepatosplenomegaly Corneal clouding Gargoylism Developmental delay
Hurler syndrome Def: alpha-L- iduronidase Accum: heparan sulfate, dermatan sulfate Glycosaminoglycans (GAGs) hurLer= L-iduronidase
199
``` 2 y.o Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Aggressive behavior ```
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
Regulator of FA synthesis and oxidation inhibits what
Malonyl-CoA inhibits carnitine acetyltransferase
201
Three ketone bodies - urine test
Acetone Acetoacetate beta-hydroxybutyrate urine test for ketones only detects acetoacetate
202
Glycogen reserves are depleted after how many days
1 day
203
ketone bodies becomes main source of energy for brain when
starvation after 3 days
204
Lipoprotein liase (LPL)
degradation of TG circulating in chylomicrons and VLDLs vascular endothelial surfaces
205
Hepatic TG lipase (HL)
degradation of TGs remaining in IDL
206
Transfers TG to HDL
LCAT
207
Exchange of cholesterol esters for TG from HDL to VLDL, IDL, LDL
CETP | Cholesterol ester transfer protein
208
Apolipoprotein E
Mediates remnant uptake Everything Except LDL
209
Apolipoprotein A-I
Activates LCAT Chylomicron HDL
210
Apolipoprotein C-II
Lipoprotein lipase Cofactor that Catalyzes Cleavage Chylomicron VLDL HDL
211
Apolipoprotein B-48
Mediates chylomicron secretion into lymphatics Chylomicron Chylomicron remnant
212
Apolipoprotein B-100
Binds LDL receptor VDLD IDL LDL
213
``` Steatorrhea Failure to thrive Ataxia slowly progressive incoordination of gait Difficulty seeing at night Loss peripheral vision ```
Abetalipoproteinemia AR Chylomicrons, VDLD, LDL absent Deficiency ApoB48 ApoB100 Vit E deficiency
214
Familial dyslipidemias
" 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
Tendonxanthomas
Type I hyperchylomicronemia Type II familial hypercholesterolemia
216
Xanthoma striatum palmare Fat deposits on crease of palm also see
Type III Dysbetalipoproteinemia Premature atherosclerosis AR
217
Pancreatitis | Increased triglycerides
Type IV Hypertriglyceridemia AD
218
MI before 20 | xanthomas
Type II familial hypercholesterolemia AD
219
Pancreatitis Hepatosplenomegaly Xanthomas
Type I hyperchylomicronemia AR
220
No risk of atherosclerosis
Type I hyperchylomicronemia Type V
221
What enlarges in LN due to extreme cellular immune response (viral infection)
Paracortex houses T cells
222
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
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
Spleen location
9-11 ribs
224
Spleen Red pulp and white pulp marginal zone
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
Splenic dysfunction leading to susceptibility to encapsulated organism
Decrease IgM Decrease complement activation Decrease C3b opsonization Increased susceptibility
226
Vaccinate pts w/o spleen for what
Pneumococcal Hib Meningococcal (encapsulated organisms)
227
Thymoma associated with
Myasthenia gravis | Superior vena cava syndrome
228
Myasthenia gravis
Ptosis Diplopia Worsens as day goes on Ab to ACh receptor
229
Adaptive immunity variation through
VDJ recombination during lymphocyte development
230
MHC I vs MHC II - structure - presents - associated proteins
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
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
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
HLA subtypes of Myasthenia gravis
HLA-B8
233
HLA subtypes of Graves disease
HLA-B8 | HLA- DR3
234
HLA subtypes of Addison disease
HLA-B8 HLA- DR3 HLA- DR4
235
HLA subtypes of seronegative arthropathies
HLA-B27
236
HLA subtypes of celiac disease
HLA-DQ2/DQ8
237
HLA subtypes of MS
HLA-DR2
238
HLA subtypes of SLE
HLA-DR2 | HLA-DR3
239
HLA subtypes of hashimotos
HLA- DR3 | HLA-DR5
240
HLA subtypes DM1
HLA-DR3 | HLA-DR4
241
HLA subtypes rheumatoid arthritis
HLA-DR4
242
HLA subtypes pernicious anemia
HLA-DR5
243
NK cell enhances by what cytokines
IL-2, IL-12, IFN-alpha, IFN-beta
244
Positive selection occurs where
Thymic cortex
245
Negative selections occurs where
Thymic medulla
246
What releases IL-12 to stimulate differentiation into Th-1 cells
APC cells | dendritic, macrophages
247
TREG cell express on surface
CD3, CD4, CD25, FOXP3
248
Treg cell produce
IL-10 | TGF-beta
249
Costimulation to T cell activation
interaction of B7 on dendritic cell (CD80/86) to CD28 on T cell
250
B cell class switching
CD40 receptor on B cell binds CD40 L on Th cell
251
Fab vs Fc
Fab - antigen binding Fc - complement binding - determines isotype IgM IgD
252
Generation of antibody diversity vs generation of antibody specificity
Generation of Ab diversity - VDJ recombination Generation of Ab specificity - Somatic hypermutation and affinity maturation (variable region) - Isotype switching (constant region)
253
Crosses placenta immunoglobulin
IgG
254
In mucous membranes immunoglobulin
IgA
255
GI tract immunoglobulin
IgA
256
Found on B cells immunoglobulin
IgM | IgD
257
Type I hypersensitivity immunoglobulin
IgE binds mast cells and basophils Activates eosinophils
258
Sign of ongoing inflammation Opsonin Fixes complement Facilitates phagocytosis
C-reactive protein
259
Acute phase reactants - positive upregulate (5) - negative downregulate (2)
``` C-reactive protein Ferritin Fibrinogen Hepcidin Serum amyloid A ``` ALbumin Transferrin
260
Hepcidin
Decreases iron absorption by degrading ferroportin and decrease iron release
261
Transferrin
INternalized by macrophages to sequester iron in acute phase inflammation
262
C3b
opsonization (phagocytosis)
263
Complement does anaphylaxis
C3a, C4a, C5a
264
C5a
anaphylaxis | Neutrophil chemotaxis
265
Opsonins
C3b | IgG
266
What helps prevent complement activation on self cells (RBCs)
Decay-accelerating factor (DAF aka CD55) | C1 esterase inhibitor
267
Pyogenic infectous agents
Pyogenic Producing Bacteria Keeps Excess Pus ``` Pseudomonas Proteus spp E. Coli Bacteroides Klebsiella Pasteurella ```
268
Recurrent pyogenic sinus and respiratory infections | Type III hypersensitivity susceptible
C3 deficiency
269
Deficiency in MAC complex
Susceptibly to neisseria bactteremia
270
Painless swelling of face, lips, larynx and extremities
Hereditary angioedema C1 esterase inhibitor deficiency Unregulated activation of kallikrein --> increase bradykinin Decreased C4 levels DONT use ACE inhibitor - pril
271
Anemia Hypercoagulability Pancytopenia
Paroxysmal nocturnal hemoglobinuria (PNH) Mutation PIGA Deficiency: glycosylphosphatidylinositol (GPI) anchor Deficiency: CD55 CD59 (Decay accelerating factor DAF) Causes complement mediated lysis of RBCs
272
Cytokines secreted by macrophages
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
Secreted by T cells
IL-2: growth of T cells IL-3: growth and differentiation of bone marrow stem cells
274
TH1 cells
IFN-gamma
275
IL-4
Induces Th2 differentiation B cell growth Class switching to IgE and IgG
276
IL-5
Differentiation of B cells Class switching to IgA Growth and differentiation of eosinophils
277
What gives sputum its color
Myeloperoxidase is a blue green heme-containing pigment
278
What of P aeruginosa functions to generate reactive oxygen species to kill competing microbes
Pyocyanin
279
What act on local un-infected cells "priming them" for viral defense by degrading viral nucleic acid and protein
Interferon alpha and beta
280
Marker on hematopoietic stem cells
CD34
281
MOA of superantigens
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
Antigenic variation classic examples
Salmonella - 2 flagellar variants Borrelia recurrentis - relapsing fever N gonorrhoeae - pilus protein Viruses: HIV, influenza, HCV Parasites: trypanosomes
283
Type I hypersensitivity
Free antigen cross links IgE on presensitized mast cells and basophils triggering immediate release of vasoactive amines
284
Transplant region hypersensitivity
Type II
285
SLE type of hypersensitivity rxn
Type III
286
Bee sting type of hypersensitivity
Type I
287
Serum sickness type of hypersensitivity
Type III
288
Goodpasture syndrome type of hypersensitivity
Type II
289
poison ivy type of hypersensitivity
Type IV
290
Polyarteritis nodosa type of hypersensitivity
Type III
291
Type I DM hypersensitivity
Type IV
292
Immune thrombocytopenic purpura hypersensitivity
Type II
293
Graft vs host disease hypersensitivity
Type IV
294
Post streptococcal glomerulonephritis type of hypersensitivty
Type III
295
PPD test type of hypersensitivity
Type IV
296
Hemolytic disease of newborn type of hypersensitivity rxn
Type II
297
Allergic/ anaphylactic rxn to blood transfusion
type 1 hypersensitivity IgA deficient individuals ``` Urticaria Pruritis Fever Hypotension Wheezing respiratory arrest Shock ``` minutes to 2-3 hrs Diphenhydramine Continue transfusion
298
Febrile nonhemolytic transfusion reaction
Type II hypersensitivity Host Ab to donor HLA Ag and WBC Fever HA Chills Flushing 1-6 hrs
299
Acute hemolytic transfusion reaction
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
Transfusion related acute lung injury
Donor anti-leukocyte ab against recipient neutrophils and pulmonary endothelial cells Respiratory distress noncardiogenic pulmonary edema WIthin 6 hrs
301
Anamnestic Ab response
1 week later second exposure to Ag Hemolysis Fever
302
Anti-ACh receptor
Myasthenia gravis
303
Anti-beta 2 glycoprotein
Antiphospholipid syndrome | SLE
304
Anti-desmoglein
Pemphigus vulgaris
305
Anti-hemidesmosome
Bullous pemphigoid
306
anti-helicase
polymyositis | dermatomyositis
307
Antimicrosomal
hashimoto
308
Antimitochondrial
primary biliary cirrhosis
309
antiparietal cell | anti intrinsic factor
pernicious anemia
310
Anti thyroglobulin
Hashimoto
311
antiphospholipase A2 receptor
primary membranous nephropathy
312
Anti thyroid peroxidase
Hashimoto
313
Anti-smooth muscle
autoimmune hepatitis type 1
314
anti-TSH
graves
315
Anti-presynaptic VG Ca channels
Lambert Easton
316
IgA anti-tissue transglutaminase
Celiac disease
317
MPO-ANCA/ p-ANCA
Microscopic polyangiitis eosinophilic granulomatosis w/ polyangiitis (churg-strauss ulcerative colitis
318
PR3-ANCA/ c-ANCA
granulomatosis w/ polyangiitis (wegener)
319
Anti-U1 RNP
mixed connective tissue disease
320
6 month old boy Recurrent bacterial infections Low immunoglobulins - disease - deficiency - inheritance - no what - susceptible to
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
Selective IgA deficiency
Decreased IgA Normal IgG, IgM
322
``` Small thymus Recurrent infections Craniofacial abnormalities tetany conotruncal abnormalities ``` - deletion - decrease
DiGeorge 22q11 deletion conotruncal - Tetralogy of fallot - truncus arteriosus Decrease T cells Decrease PTH Decrease Ca Absent thymic shadow
323
Eczema Recurrent cold S. aureus abscesses Coarse facial features Two rows teeth - deficiency - mutation - impaired - increased - decreased
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
``` Oral thrush Chronic diarrhea Recurrent infections Low IgG small thyroid ``` - decrease - deficiency - avoid - tx
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
Ataxia spider angiomas on face IgA deficiency - defect - failure - increased - decreased - increase risk of
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
Infections with pneumocystis, cryptosporidium, CMV Increased IgM Low IgG, IgA, IgE - defective - inheritence - failure to
Hyper IgM syndrome Defective CD40L on Th cells Class switching defect X linked recessive Failure to make germinal centers
327
``` Thrombocytopenia Eczema Recurrent infections Low IgG, IgM Increased IgE, IgA ```
Wiskott-aldrich Mutation WASp gene - leukocytes and platelets unable to recognize actin cytoskeletin --> defective antigen presentation Abnormal cytoskeletal fxn X linked recessive
328
Recurrent skin and mucosal infections No pus Impaired wound healing Delayed separation of umbilical cord
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
Giant cytoplasmic granules in PMN Partial albinism Recurrent respiratory tract and skin infections Neurologic disorders
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
Abnormal dihydrorhadamine (flow cytometry) test
decrease green fluorescence Chronic granulomatous disease Defect NADPH oxidase
331
Nitroblue tetrazolium dye reduction test fails to turn blue
Chronic granulomatous disease Defect NADPH oxidase
332
Hyperacute transplant rejection - time line - seen in tissue - cells - rxn
Within minutes Cyanotic and mottled Pre-existing recipient antibodies to donor antigen Type II hypersensitivity rxn Activate complement
333
Acute transplant rejection - timeline - cells - rxn - seen in tissue
Weeks to months < 6 months CD8 T cells against donor MHC (type IV) Vasculitis of graft vessels with interstitial lymphocytic infiltrate
334
Chronic transplant rejection - timeline - cells - seen in tissue - rxn
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
Graft vs host disease - cells - rxn - symptoms - seen in tissue
T cell proliferate in the IC host and reject host cells Type IV hypersensitivity Maculopapular rash Jaundice Diarrhea Hepatosplenomegaly
336
Cell mediated transplant hypersensitivity
Acute transplant rejection or Chronic transplant rejection
337
Cyclosporine - type - MOA (2) - uses (2) - Adverse effect
Calcineurin inhibitor Binds cyclophilin Blocks T cell activation by preventing IL-2 transcription Psorasis Rheumatoid arthritis ``` Nephrotoxicity HTN Hyperlipidemia Neurotoxicity Gingival hyperplasia Hirsutism ```
338
Tacrolimus - type - MOA (2) - uses - adverse effect
Calcineurin inhibitor Binds FK506 binding protein (FKBP) Blocks T cell activation by preventing IL-2 transcription Neurotoxicity Increased risk diabetes Nephrotoxic
339
Sirolimus - type - MOA - use - adverse effects
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
Basiliximab - type - moa - adverse effect
Monoclonal Ab Blocks IL-2R Edema HTN Tremor
341
Azathioprine - type - MOA - uses - adverse effect
Antimetabolite precursor of 6-mrecaptopurine Inhibits lymphocyte proliferation by blocking nucleotide synthesis RA Chrons Glomerulonephritis other autoimune Pancytopenia
342
Mycophenolate mofetil - MOA - Use - Adverse effect - assoc w/
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
Corticosteroids - MOA (3) - uses - adverse effects
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
Aldesleukin
IL-2 recombinant cytokine Renal cell carcinoma Metastatic melanoma
345
Epoetin alfa
Erythropoietin recombinant cytokine Anemias
346
Filgrastim
G-CSF recombinant cytokine Recovery of bone marrow and WBC count by granulocyte stimulation
347
Sargramostim
GM-CSF recombinant cytokine Recovery of bone marrow and WBC count by granulocyte and monocyte stimulation
348
IFN-alpha recombinant cytokine
``` Chronic hep B and C kaposi sarcoma malignant melanoma hairy cell leukemia condyloma acuminata renal cell carcinoma ```
349
IFN-beta recombinant cytokine
multiple sclerosis
350
IFN-gamma recombinant cytokine
Chronic granulomatous disease
351
Romiplostim
Thrombopoietin analog thrombocytopenia
352
Eltrombopag
Thrombopoietin receptor analog Thrombocytopenia
353
Oprelvekin
IL-11 recombinant cytokine Thrombocytopenia
354
Bevacizumab - type - use - side effect
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
Cetuximab
EGFR Stage IV colorectal cancer head and neck cancer K-RAS positive colon cancer
356
Rituximab
targets CD20 B cell nonhodgkin lymphoma CLL Rheumatoid arthritis ITP
357
Trastuzumab
Ab against HER2/neu Breast cancer gastric cancer
358
Adalimumab Certolizumab Golimumab Infliximab
Soluble TNF-alpha IBD RA Ankylosing spondylitis Psoriasis
359
Daclizumab
CD25 (part of IL-2 receptor) Relapsing MS
360
Abciximab
platelet glycoproteins IIb/IIIa Antiplatelet agent for prevention of ischemic complications in patients undergoing percutaneous coronary intervention
361
Denosumab
targets RANKL Osteoporosis Inhibits osteoclast maturation
362
Digoxin immune Fab
Digoxin Antidote for digoxin toxicity
363
Omalizumab
IgE Refractory allergy asthma Prevents IgE binding to FceRI
364
Palivizumab
RSV F protein RSV prophylaxis for high risk infants
365
Carbamoyl phosphate synthetase (1 and 2)
CPS-1 - urea cycle - mitochondria - source of nitrogen: ammonia CPS-2 - pyrimidine synthesis - cytosol - source of nitrogen: glutamine
366
What do you need to make a pyrimidine sources of carbon
Aspartate, CO2, Glutamine, ATP Carbon: aspartate, Co2
367
What do you need to make a purine source of carbon SOurce of nitrogen
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
What does PRPP provide for purine synthesis?
Sugar and phosphate for synthesis
369
Orotic aciduria
Deficiency of UMP synthase Orotic acid builds up in blood spills into urine AR Megaloblastic anemia NO hyperammonemia tx uridine supplement
370
Inhibits prokaryotic RNA polymerase Inhibits prokaryotic topoisomerase
Rifampin Fluroquinoles
371
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
1) DNA polymerase delta (first 20 alpha) 2) Alpha 3) Beta 4) Gamma 5) Epsilon (alpha first 20)
372
Sulfa allergy
"Sulfa Pills Frequently Cause Terrible Allergy Symptoms" ``` Sulfasalazine Probenecid Furosemide Celecoxib Thaizide (TMP-SMX) Acetazolamide Sulfonyureas ```
373
Enzyme needed for lactose breakdown into what two things
beta-galactosidase Glucose Galactose
374
Lac operon requires what two things
CAP (activating protein) - absent glucose Lac repressor protein - allolactose to bind to and change shape - excess lactose
375
Rifampin
4Rs Inhibits RNA polymerae Red secretions RRRevs up cytochrome P450
376
What type of DNA binding motif allows protein to incorporate into major groove of DNA double helix
Helix-loop- helix
377
5' cap
7- methyl-guanosine cap provided by SAM
378
Polyadenylate 3' end
200 or 250 adenines added poly-A-polymerase - creates tail without DNA template signal to get started AAUAAA
379
Protein Translation | - initiation
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
Enzyme used to elongate protein
peptidyltransferase
381
Elongation factor in prokaryotes Elongation factor in eukaryotes
Prokaryotes - Elongation factor G Eukaryotes - Elongation factor 2
382
Antibiotics bind where and fxn 1. Aminoglycosides 2. Tetracycline 3. Chloramphenicol 4. Clindamycin 5. Macrolides (erythromycin, azothromycin) 6. Linocmycin 7. Linezolid 8. Streptogramins
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
What enzyme matches amino acids to tRNA
aminoacyl tRNA synthetase
384
Boot shaped heart
RVH --> tetralogy of fallot
385
Cafe au lait spots
NF1 | McCune albright syndrome
386
Tuberous sclerosis
Seizures intellectual disability Angiofibromas (reddish brown bumpson nose and cheeks)
387
Ragged red fibers on biopsy
Mitochondrial myopathies
388
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
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
Steps to end up w/ ATP
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
GLUT Transports GLUT 1 GLUT 2 GLUT 3 GLUT 4 GLUT5
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
Fasting on glycolysis
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
Gluconeogenesis occurs where
only in cells designed to share glucose Hepatocytes Kidney Intestinal epithelium
393
Cofactors for pyruvate dehydrogenase
Tender loving care for No-one ``` Thiamine (B1) Lipoic acid Coenzyme A (B5) FAD (B2) NAD (B3) ```
394
Found in high levels in the blood due to being carriers for nitrogen from tissues
Alanine | Glutamine
395
Transaminases require what cofactor
Pyridoxal phosphate | - derivative of vit B6
396
G6PD deficiency drugs
" Spleen Purges Nasty Inclusions From Damaged Cells" ``` Sulfonamides Primaquine Nitrofurantonin Isoniazid Fava beans Dapsone Chloroquine ```
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Symptoms of serotonin syndrome
Muscle rigidity Hyperthermia Cardiovascular collapse
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Symptoms of neuroleptic malignant syndrome
``` Muscle rigidity Hyperpyrexia (high fever) Myoglobinuria Autonomic instability - tachycardia Delirum Mental status changes ```
399
Break down of - dopamine --> - NE --> - Epi --> by what
``` Monoamine oxidase (MAO) Catechol-o-methyltransferase ``` Dopamine --> HVA NE --> VMA Epi --> Metanephrine
400
Two things to know in urea cycle
RL - CPS-1 in mitochondria Ornithine transcarbamylase - carbamoyl phosphate --> citrulline
401
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
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
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Angular cheilosis
B2 (riboflavin) | B6 (pyridoxine)
403
Glossitis
B2 (riboflavin) B6 (pyridoxine) B9 (folate)
404
Markers on dendritic cells
B7 protein (CD80 or CD86) CD40
405
Birbeck granule
Dendritic cell in patient with langerhans cell histiocytosis Excess proliferatino of langerhan cells but not good at Ag presentation S-100 CD1a
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VDJ begins at initiated by
Begins with breaks in the dsDNA at Recombination Signal Sequences (RSSs) RAG-1 and RAG-2
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Thalidomide - MOA - Uses - Side effect
TNF-alpha production erythema nodosum leprosum MM Phocomelia
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Hypocalcemia | Immune deficiency
Di George
409
Chronic transplant rejection
Submucosal inflammation Granulation Scarring Bronchiolits obliterans (small airways)
410
Formation of lactate acid during extreme exercise is due to depletion of
NAD
411
``` Rash Severe respiratory infections Normal WBC Decreased platelets Small deformed platelets in smear ```
Wiskott aldrich Eczema Recurrent infections Thrombocytopenia
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HepB vaccine
Utilizes recombinant HBsAg Collection of envelope glycoproteins Impair viron entry into hepatocyte
413
What uses zinc-finger motifs
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 ```
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Compensatory mechanism in essential fructosuria
Fructose --> (hexokinase) --> Fructose 6 phosphate
415
What prevents fungal infections
``` T lymphocytes (superficial infxn) Neutrophils (disseminated) ```
416
mRNA processing outside nucleus in cytoplasm
Interaction w/ P bodies Exonucleuses decapping enzymes microRNA mRNA may be degraded or stored in P bodies for future translation
417
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
Organic acidemia Cant use - Valine - Isoleucine - Methionine - Threonine

AM- STEP1 (20 decks)

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