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Biochem High Yield Flashcards

1
Q

What change to Histones Inc transcription? Dec?

A

Methylation decreases transciption, Acetylation increases transcription

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2
Q

Megaloblastic anemia that does not correct with Folate or Vit B12 administration

A

Orotic Aciduria Note: Deficiency in UMP Synthase–> increased orotic acid in urine and megaloblastic anemia (No hyperammonemia–>Ornithine Transcarbamolase Deficiency)

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3
Q

Intellectual Disability, Self Mutilation, Gout, dystonia

A

Lesch-Nyhan Syndrome Note: HGPRT deficiency, X-linked recessive

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4
Q

Removal of RNA Primer

A

DNA Pol I w/ 5’->3’ exonuclease activity

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5
Q

DNA proofreading

A

3’->5’ exonuclease activity Note: DNA Pol III and I;

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6
Q

Transition vs Transversion

A

Transition: Purine to PurineTransversion: Purine to Pyrimidine

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7
Q

Xeroderma Pigmentosa

A

Defective Endonuclease repair of pyrimidine dimers Note: Increased risk for SqCC, Basal CC, Melanoma

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8
Q

Base Excision Repair Order of Enzymes

A

Glycosylase (removes altered base)Endonuclease (5’) then Lyase (3’)DNA Pol then DNA Ligase Note: repairs spontaneous/toxic deamination of bases

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9
Q

RNA Polymerase products

A

I: rRNA, II: mRNA, III:tRNA Note: Amantinin (mushroom toxin) inhibits RNA Pol II (mRNA synthesis–>hepatotoxic)

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10
Q

Nuclear modifications to mRNA

A

5’ Cap, 3’ Polyadenylation, Splicing Note: inital transcript is hnRNA (heterogenous nuclear RNA)

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11
Q

Cellular Structure that stores & Quality Controls mRNA

A

P-Bodies Note: contain exonucleases, decapping enzymes, and microRNAs

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12
Q

Antibodies to snRNPs in spliceosomes

A

Anti-Smith Ab – Lupus

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13
Q

Binds the AA on tRNA

A

CCA at 3’ end Note: Added as a post-translational modification, ATP used to charge the tRNA

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14
Q

tRNA structure

A

75-90 nucleotides, including Dihydrouricil and Pseudouridine Note: Dihydrouracil in D arm necessary for binding the correct aminoacyl-tRNA synthase

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15
Q

Mischarged tRNA outcome

A

Wrong AA at the correct codon

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16
Q

Energy for translocated derived from

A

GTP

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17
Q

Ribosome protein production

A

RER-secreted; free ribosomes-cytosolic/organellar Note: Mucus-secreting Goblet cells, Plasma cells, and Chief cells (stomach-pepsinogen) are rich in RER

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18
Q

Trafficing signal for Lysosomes

A

Mannose-6-Phosphate Note: Deficient in I cell disease–lysosomal proteins excreted, coarse facial features, clouded corneas, high plasma lysosomal enzymes, restricted joint movement, can be fatal

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19
Q

What does the Peroxisome catabolize

A

Very-long chain FA, Branch-chain FA, AA

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20
Q

Dynein Retrograde, Kinesin Anterograde

A

Dynein used by HSV for latency

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21
Q

Bronchiectasis/Recurrent Pulmonary infections, infertility, and Situs Inversus

A

Kartagener’s Disease Note: dynein arm defect in cilia

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22
Q

Level of what AA best reflects Collagen synthasis

A

Glycine (1/3 of collagen is glycine) Note: Gly-X-Y

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23
Q

Vitamin C deficiency effects collagen production where

A

RER Note: decreases hydroxylation of proline and lysine

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24
Q

Osteogenesis imperfecta where?

A

RER Note: Problems w/ formation of triple helix in RER (3 alpha chains)

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25
Q

Problems with Cross-linking in Ehlers Danlos, where?

A

outside the fibroblasts

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26
Q

Copper Deficiency effect on Collagen

A

Menkes Disease Note: Copper is necessary cofactor for Lysyl oxidase–> Crosslinks collagen (extracellular)

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27
Q

Most common form of Osteogenesis Imperfecta

A

AutoDom, decreased production of otherwise normal collagen Note: Multiple fx w/ minimal trauma, blue Sclera (due to translucency of collagen over choroidal veins);Hearing loss (abnormal ossicles), and dental imperfections

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28
Q

Ehlers Danlos

A

Faulty Collagen synethsis (6 types) Note: Can involve joint hypermobility, skin hyperextensability (Type 5 collagen)Berry and Aortic Aneurysms (Type 3 collagen–blood vessels)

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29
Q

Blots

A

Southern: DNA; Northern: RNA; West: Protein Note: Southwestern: DNA-binding proteins

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30
Q

Pleotropy

A

One gene contributes to many phenotypic effects

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31
Q

Heteroplasmy

A

Presence of both normal and mutated mtDNA Note: Results in variable expression of mitochondrially-inherited disease between family members; Disease extent corrolates to the proportion of mutated DNA a person has

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32
Q

Pt has a recessive disease, only 1 parent is a carrier

A

Uniparental Disomy Note: Two copies of a chromosome from one parent and zero from the other; 25% of Prader Willi Syndrome–>

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33
Q

Difficulty releasing grib/doorknob, muscle wasting, frontal balding, cataracts, testicular atrophy

A

Myotonic Muscular Dystrophy Note: CTG trinucleotide repeats in DMPK gene; Distal Weakness in hands/feet; Type 1 fibers more affected

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34
Q

Macroorchidism, Large Jaw, large/everted ears, mitral valve prolapse, developmental delay

A

Fragile X Syndrome Note: X linked trinucleotide repeats affecting the METHYLATION of FMR1 gene (fragility only describes in vitro not in vivo);

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35
Q

Duchenne Muscular Dystrophy mutation

A

X-linked Frameshift mutation

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36
Q

Becker Muscular Dystrophy mutation

A

X-linked Point mutation

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37
Q

Rocker bottom feet, lowset ears, micrognathia

A

Edwards Note: Trisomy 18

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38
Q

Rocker bottom feet, cleft lip/palate, holoprosencephaly, polydactyly

A

Patau Note: Trisomy 13

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39
Q

Microcephaly, High pitched crying, epicanthal folds, severe intellectual disbility, VSD

A

Cri du chat Note: Chr 5 short arm deletion

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40
Q

Vitamin used to treat measles

A

Vitamin A Note: Deficiency causes night blindness and immune suppression

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41
Q

4 Enzymes that utilize Thiamine (B1)

A

Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase Note: Deficiency in alcoholics Worsened if you give glucose w/o Thiamine (used for glucose metabolism)Diagnosis of Deficiency: Increased Transketolase activity in RBC following Thiamine supplement

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42
Q

2 Things that cause Niacin deficiency (non-diet)

A

Hartnup disease (dec tryptophan/Neutral AA reabsorption), Carcinoid Syndrome Note: Pellegra-Dermatitis, Diarrhea, Dementia/Ataxia

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43
Q

3 Symptoms of Niacin Excess/Dyslipidemia use

A

Flushing (prostaglandin), Hyperglycemia, Hyperuricemia

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44
Q

Yellowing of the skin w/o scleral icterus

A

Vitamin A(Beta carotene) excess

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45
Q

Vitamin necessary for neurotransmitter synthesis

A

B6 Pyridoxal Phosphate Note: Serotonin, Dopamine, NE, Epinephrine, GABA; (DA to NE requires Vit C)

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46
Q

Rescue supplementation for Folate deficiency

A

Thymidine Note: Allows for continuation of DNA synthesis (bypasses thymidine synthase)–> stops RBC precursor apoptosis

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47
Q

Breastmilk is low in what 2 vitamins

A

D and K Note: Also low in iron

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48
Q

Vitamin that enhances the effects of warfarin

A

Vitamin E

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49
Q

Deficiency of what vitamin can be lethal in 1st week

A

Vitamin K Note: Neonatal Hemorrhage (high suspicion if birth not at a hospital– no Vitamin K shot)–same reason why Warfarin is not used in 3rd trimester despite what they said in class

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50
Q

Alcohol Dehydrogenase inhibitor? Acetaldehyde Dehydrogenase inhibitor

A

Alcohol: FomepizoleAcetaldehydr: Disulfiram Note: Fomepizole used to prevent toxicity w/ ethylene glycol or methanol poisoning

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51
Q

Vitamin that has deficiency mimicking Friedrich Ataxia/B12 deficiency (posterior column and spinocerebellar demyelination)

A

Vitamin E Note: Also causes hemolytic anemia with ancanthocytosis

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52
Q

Disulfiram-like reactions

A

Metronidazole, Chlorpromazine (typical antipsychotic), 1st gen sulfonylureas, Griseofulvin, some cephalosporins

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53
Q

Glucose metabolism enzyme associated with maturity onset or gestational diabetes

A

Glucokinase Note: Glucokinase is key for glucose-sensing in the pancreatic Beta cell

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54
Q

Cofactors for Pyruvate dehydrogenase

A

Vit B1, B2, B3, B5, and Lipoic acid Note: Same Cofactors as alpha-Ketoglutarate Dehydrogenase

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55
Q

What cofactor of Pyruvate dehydrogenase does arsenic inhibit?

A

Lipoic Acid Note: Causes vomiting, rice-water stools, and garlic-breath

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56
Q

TX for Pyruvate Dehydrogenase deficiency

A

Lysine and Leucine or high fat diet Note: only purely ketogenic amino acids

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57
Q

Cyanide and Carbon Monoxide inhibit what ETC complex

A

Complex 4 (Cytochrome C Oxidase) Note: Decrease protein gradient and block ATP synthesis

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58
Q

High dose aspirin, Dinitrophenol, and thermogenin have what effect on the ETC

A

Uncoupling agents Note: Allow H+ to pass through and consumes O2 w/o ATP synthesis–> heat generation

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59
Q

What Respiratory burst enzyme gives sputum its color

A

Myeloperoxidase Note: blue-green heme containing pigment

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60
Q

Glucose -6-Phosphate Dehydrogenase Deficiency has what 2 manifestations in RBC

A

Heinz Bodies: Oxidized/precipitated HemoglobinBite cells: removal of HBs by splenic macrophages

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61
Q

Asymptomatic accumulation of fructose in blood/urine

A

Essential Fructosuria (Defect in Fructokinase)

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62
Q

Hypoglycemia, jaundice, cirrhosis, and vomiting in an infant after consuming juice/fruit

A

Fructose Intolerance Note: Deficiency of Aldolase B (Auto rec), accumulation of Fructose-1-p causes decreased phosphate, which inhibits glycogenolysis and gluconeogenesis

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63
Q

Urine dipsticks detect what sugar

A

Glucose Note: Negative in fructosuria/fructose intolerance–> test for reducing sugars (included fructose)

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64
Q

Supplementation w/ which sugar allows bipassing of the rate limiting step of glycolysis

A

Fructose Note: Fructose-1-P is converted by Aldolase B to DHAP and Glyceraldehyde (triose kinase to G3P)

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65
Q

Infantiile Cataracts and failure to track objects with galactose in blood/urine

A

Galactokinase Deficiency Note: accumulation of Galactitol due action of Aldolase reductase on galactose

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66
Q

Intellectual disability, jaundice, failure to thrive, hepatomegaly, and cataracts in an infant

A

Classic Galactosemia Note: Defect in Galactose-1-P Uridyltransferase–>accumulation of galactitol and depletion of phosphate

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67
Q

Classic Galactosemia is associated with what infection in neonate

A

E. coli Sepsis Note: Deficiency of Galactose-1-P Uridyltransferase

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68
Q

Cataracts, Retinopathy, and Peripheral Neuropathy are due to accumulation of sorbitol, what enzyme is lacking in these tissues?

A

Sorbitol Dehydrogenase (Sorbitol to Fructose) Note: Glucose is converted to osmotically active sorbitol via Aldolase Reductase

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69
Q

Stool/Breath in Lactose tolerance test if intolerant

A

Decreased stool pH and increased breath Hydrogen Note: Osmotic diarrhea, bloating, flatulance

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70
Q

What two AA are enriched in histones

A

Arginine and Lysine Note: Basic AA that bind the negatively charged DNA–> Histidine is also basic

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71
Q

Which AA donates an NH2 group to form urea

A

Aspartate

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72
Q

What AA is actually split to form urea

A

Arginine Note: via Arginase (produces urea and reforms ornithine)

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73
Q

Excess NH3 in hepatic encephalopathy depletes what TCA intermediate, inhibiting the TCA cycle

A

Alpha Ketoglutarate Note: converted to Glutamate; Lactulose is used to remove excess NH4 (diarrheal that acidifies the GI)

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74
Q

Deficiency of N-acetylglutamate inhibits what Urea Cycle enzyme

A

Carbamoyl Phostphate Synthase I Note: Leads to hyperammonemia and Increased Ornithine

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75
Q

Hyperammonemia with excess orotic acid

A

Ornithine Transcarbamylase Deficiency Note: X-linked recessive, often evident in first few days of life: Increased Orotic Acid, Decreased BUN, Hyperamonemia symptoms (Kernicterus, somnolence, vomiting, cerebral edema

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76
Q

Excess orotic acid with Megaloblastic Anemia

A

Orotic Aciduria Note: deficiency of UMP Synthase, Megaloblastic anemia NOT treated with folate or vit B12 supplement

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77
Q

Phenylalanie Hydroxylase and Tyrosine Hydroxylase require what cofactor

A

Tetrahydrobiopterin

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78
Q

Intellectual disability, mousy.musty body odor, seizures, and eczema corrected with Tetrahydrobiopterin supplementation

A

Malignant PKU Note: Deficiency in Dihydrobiopterin Reductase;

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79
Q

What hormone may be elevated in malignant PKU

A

Prolactin Note: Tetrahydrobiopterin is also cofactor for Tyrosine hydroxylase–> decreased activity causes decreased DOPA, which causes decreased Dopamine, which removes inhibiton of prolactin secretion

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80
Q

Glutamate produces what neurotransmiter

A

GABA Note: requires pyridoxal phosphate (B6)

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81
Q

Arginine produces what 3 things

A

Nitric Oxide, Urea, Creatinine

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82
Q

Enzyme that converts NE to Epinephrine

A

PNMT Note: Requires cortisol and SAM

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83
Q

Tryptophan generates what 3 productes

A

Niacin, serotonin, Melatonin

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84
Q

NE/Epi breakdown product? Dopamine?

A

NE/Epi: Vanillylmandelic Acid; DA: Homovanillic acid Note: NE is first broken down to Normetanephrine, Epi to metanephrine by COMT

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85
Q

Effects of maternal PKU on infant w/o proper diet

A

Microcephaly, Mental and growth retardation, heart defects

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86
Q

Dark connective tissue, brown pigmented sclera, urine turns black w/ prolonged air exposure, Debilitating arthralgia

A

Alkaptonuria Note: Deficiency of Homogenisate oxidase–> accumulation of homogentisic acid and failure to breakdown tyrosine to Fumarate

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87
Q

Osteoporosis, Tall stature (marfanoid), kyphosis, lens subluxation (down and in), thrombosis/atherosclerosis w/ stroke and MI risk; Elevated Homocystine in urine

A

Homocystinuria Note: Due to Deficiency of either: MethionineCystathionine–>Cysteine-Cystathionine Synthase –>supplement with inc cysteine, B6/pyridoxine, and dec methionine-Homocysteine Methyltransferase (Methionine Synthase) Deficiency – inc methionine in diet

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88
Q

Renal Cystine stones (hexagonal)

A

Cystinuria Note: Hereditary defect in Renal Proximal tubule and intestinal reaborption of Cysteine, Ornithine, Lysine, and Arginine

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89
Q

Diagnosis of Cystinuria

A

Urinary Cyanide-Nitroprusside test turns purple

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90
Q

Severe retardation, disability, and sweet smelling urine

A

Maple Syrup Urine Disease Note: Deficiency in Alpha-Ketoacid Dehydrogenase (uses thiamine)–>blocks degradation of Branched amino acids (Valine, Leucine, Isoleucine); Isoleucine causes burnt sugar urine smell

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91
Q

What causes increased glycogen breakdown in muscle during exercise

A

Ca2+ directly activates Glycogen Phosphorylase Kinase

92
Q

Glycogen storage disease causing cardiomyopathy

A

Pompe Disease (Type II) Note: Deficiency in Lysosomal a-1,4-glucosidase (acid maltase)

93
Q

Glycogen storage disease causing painful muscle cramps, myoglobinuria, and arrhthmias

A

McArdle Disease (Type V) Note: Deficiency in Myophosphorylase (skeletal muscle glycogen phosphorylase)

94
Q

Glycogen storage disease with hypoglycemia and accumulation of short outer Dextrin-like structures

A

Cori Disease (Type III) Note: Deficiency in Debranching enzyme (a-1,6-glucosidase)

95
Q

Lysosomal Storage disease with Aseptic necrosis of the femur, pancytopenia, hepatosplenomegaly, and bone crisises

A

Gaucher’s Disease Note: Most common LSD, Gaucher cells (lipid-laden macrophages that look like crumpled paper)Glucocerbrosidase deficiency–>accumulation of Glucocerebroside

96
Q

What is present in Niemann Pick and absent in Tay Sachs

A

hepatosplenomegaly Note: both have neurodegeneration and cherry red spots on macula

97
Q

Globoid cells

A

Krabbe Disease Note: Large macrophages filled with Galactocerebroside (Galactocerebrosidase deficiency)

98
Q

LSD w/ ataxia, dementia, and cresyl violet stain +

A

Metachromatic Leukodystrophy Note: Arylsulfatase deficiency and accumulation of cerebroside sulfate

99
Q

Hunters Syndrome vs Hurler’s Sydrome

A

Hunters is X linked, no corneal clouding, aggressive Note: both accumulate Heparan sulfate and dermatan sulfate, have gargoylism and developmental delay

100
Q

Hypoketonic hypoglycemia (low glucose w/o inc ketones)

A

Carnitine Deficiency/Acyl-CoA Dehydrogenase deficiency Note: Carnitine is needed to transport Long Chain FA into the mitochondria

101
Q

Urine test for ketones does not detect which one

A

B-Hydroxybutyrate

102
Q

Protein and carboydrate generate how many kcal/g

A

4kcal/g Note: Fat generates 9kcal/g, alchohol 7kcal/g

103
Q

How long until hepatic glycogen is gone

A

About 12-18 hrs, unless exercising (then less)

104
Q

Glucose on starvation day 1-3 comes from

A

Liver Gluconeogenesis via peripheral lactate/alanine and adipose propionyl-CoA and glycerol

105
Q

How long until brain can use ketone bodies

A

after day 3

106
Q

Only apolipoprotein in LDL

A

ApoB-100 Note: binds LDL receptor

107
Q

Hyperchylomicronemia (TG>2000 in kids) 1st presents as

A

Pancreatitis and abdominal pain Note: Deficiency in Lipoprotein lipase or ApoCII; No increased risk for Atherosclerosis

108
Q

Pathognomonic lesion for Familial Hypercholesterolemia

A

Tendenous Xanthomas (Achilles) Note: AutoDom defect in LDL receptor; very accelerated atherosclerosis

109
Q

Pyruvate Carboxylase is allosterically activated by:

A

Acetyl-CoA Note: converts pyruvate to oxaloacetate for gluconeogenesis

110
Q

Insulin activates what intracellular enzyme

A

Protein Phosphatase 1 Note: Increases glycogen synthase and decreases glucose release

111
Q

Elastin’s elasticity/recoil is due to

A

Interchain Crosslinks between lysine and Desmosine

112
Q

DNA laddering by endonucleases in apoptosis yield what size DNA fragments

A

180bp fragments from internucleosome DNA

113
Q

Neuron Swelling, displacement of nucleus to periphery, and dispersion of Nissl substance following Axon damage

A

Wallerian Degeneration

114
Q

Fibrous Tissue formation in response to neoplasm

A

Desmoplasia Note: Ex Linitis Plastica in diffuse-type gastric adenocarcinoma

115
Q

S-100 stain says what about cells

A

Neural Crest Note: Melanomas, schwannomas, Histocytosis

116
Q

Hemoglobin has a sigmoid curve and therefore cannot have what type of kinetics

A

Michaelis Menton Note: To have Michaelis-Menton Kinetics, an enzyme must have a hyperbolic curve

117
Q

Tetrahydrobiopterin is needed for what 3 enzymes in Neurotransmitter synthesis

A

Phenylalanine Hydroxylase, Tyrosine Hydroxylase, and Tryptophan Hydroxylase Note: Malignant PKU will decrease activity of all 3 due to deficient Dihydrobiopterin reductase

118
Q

Gives rise to the smooth part (outflow tract) of the Left and right ventricles

A

Bulbis cordis

119
Q

Why does HbF has a left shifted curve vs HbA

A

Less avid binding of 2,3 BPG

120
Q

How is CFTR gated?

A

ATP

121
Q

Homocysteinuria often responds to what supplementation

A

Vitamin B6/Pyridonine

122
Q

Bilateral absence of the Vas Deferens

A

Cystic Fibrosis Note: Azoospermia

123
Q

First breast milk given to an infant after birth

A

Colostrum Note: Contains IgA

124
Q

Major regulator of iron absorption/excretion

A

Liver (hepatocytes) Note: Liver produces Hepcidin, which downregulates and inhibits ferroportin in intestinal epithelial cells

125
Q

Alcohol effects what receptors

A

Downregulates GABA and upregulates NMDA Note: Predisposes to seizure w/ withdrawal due to decreased GABA (inhibitory) and increased NMDA (excitatory)

126
Q

What senses low blood O2 to raise hematocrit in COPD/OSA

A

Kidney Note: Secretes EPO

127
Q

Demyelination decreases the length constant for an axon

A

Signal strength decreases over a shorter distance

128
Q

Hypoglycemia and low Ketone bodies, what enzyme deficient

A

Acyl-CoA Dehydrogenase Note: Deficiency of Beta oxidation, preventing ketone body formation w/ low glucose

129
Q

Most important determinant of peak bone mass

A

Genetics

130
Q

Marker of osteoblast activity

A

Bone ALP

131
Q

Marker of osteoclast activity

A

Urine Deoxypyridinoline excretion Note: collagen cross linker

132
Q

Hypothalamus produces what hormones

A

Supraoptic-ADH, Paraventricular-oxytocin

133
Q

Hypothalamic nuclei causing hunger? Satiety?

A

Lateral-hunger, Ventromedial-Satiety Note: Leptin inhibits the lateral area and stimulates the ventromedial area

134
Q

Melatonin/circadian rhythym is controlled by

A

Suprachiasmatic nucleus Note: Helps to overcome jet-lag

135
Q

Deep thalamic nuclei (lateral to Medial)

A

Dentate, Emboliform/Globose, Fastigial

136
Q

Oocyte Stages

A

In Ovary: Prophase Meiosis IAfter Ovulation: Metaphase Meiosis 2 Note: Primary Ooocyte, 2N 4CSecondary Oocyte 1N 2C

137
Q

Endpoint of Conducting Zone lung structures

A

Cartilage and Goblet cells: end of BronchiPseudostratified ciliated cells:beginning of terminal bronchiolesAirway Smooth Muscle: End of terminal bronchioles

138
Q

Biotin

A

Carboxylase reactions Note: Pyruvate carboxylase and conversion of Propionyl-CoA to methylmalonyl-CoA

139
Q

Receptors that cause Extrinsic Apoptosis

A

FAS and TNF

140
Q

P and E selectin on endothelial cells bind to

A

Sialyl-Lewis X on leukocytes

141
Q

Test for Chronic Granulomatous Disease

A

Nitroblue Tetrazolium test Note: Tests for NADPH activity

142
Q

Two mechanisms by which CD8+ T cells kill cells

A

Perforin/Granzyme & expression of FasL Note: IL-2 from TH1 cells is secondary signal

143
Q

What are the two anti-fibrinolysis substances

A

alpha2-Antiplasmin: Inhibits plasminAminocaproic acid: prevents plasminogen activation

144
Q

What differentiates disorders of fibrinolysis from DIC

A

Disorders of fibrinolysis have normal platelet counts and No increased D-dimers Note: Fibrinogen split products are elevated (not D-dimers b/c there are no clots so no cross-linked fibrin; PT,PTT, and bleeding time elevated in both

145
Q

Iatrogenic cause of Disorder of Fibrinolysis

A

Radical prostatectomy Note: Leads to release of urokinase (activates plasmin); TX w/ aminocaproic acid

146
Q

What is secreted by endothelial cells that causes thrombin to activate protein C

A

Thrombomodulin Note: Endothelial cells also block subendothelial collagen, release Prostacyclin, Heparin-like molecules, and tPA

147
Q

Inherited point mutation in Prothrombin that increases gene expression and thrombosis

A

Prothrombin 20210A (point mutation)

148
Q

First step of heme synthesis is conversion of glycine & Succinyl-CoA to ALA by ALAS, what vitamin is key

A

Vitamin B6/pyridoxine Note: B6 deficiency (nutrition or Isoniazid) or lead poisoning cause acquired sideroblastic anemia

149
Q

Gene mutations in Thalassemia

A

Alpha: Gene DeletionBeta: Point mutation in promoter or Splice Sites

150
Q

Screen that causes cells w/ any HbS to sickle

A

metabisulfite Note: Positive in both SCD and SCTrait

151
Q

Left shift is marked by increased immature neutrophils w/ what receptor decreased

A

CD16 (Fc receptor)

152
Q

Bordetella pertussis is associated w/ increase in what cell type in blood

A

Lymphocytes Note: Lymphocytosis promoting factor; Viruses also increase lymphocytes

153
Q

Stain specific to Acute Lymphoblastic Leukemia

A

Tdt Note: DNA polymerase

154
Q

HFR to F- conjugation goes from what to what

A

OriT to tra Note: Genes closer to OriT get transferred more

155
Q

A disporportionate number of people are lost from one study group as compared to the other

A

Selection bias (attrition bias/Loss to follow up)

156
Q

Most common cause of death age 1-44

A

Unintentional injury Note: 65 heart disease

157
Q

To calculate carrier rate of an AR gene

A

Sqrt(prevalence/4) Note: 1/4 kid gets disease, square root gives carrier rate

158
Q

Cardiac path associated w/ fragile X

A

Mitral valve prolapse Note: Also long face, large/everted ears and huge balls

159
Q

ACL on MRI

A

Superolateral to inferomedial (SLIM)

160
Q

Fractional Excretion of Water equation

A

Urine Flow Rate/GFR (x100%)

161
Q

25% of Prader-Willi cases are caused by this, in which two maternally imprinted copies are present

A

Uniparental Disomy

162
Q

Lens Subluxation in Genetic Disorder

A

MARFAN: Upward and TemporallyHomocysteinuria: Inferior and nasally

163
Q

What diuretic can be used to prevent uric acid kidney stones

A

Acetazolamide Note: Alkalyzes the urine, urate crystals only at acidic pH

164
Q

Diagnosis of Thiamine deficiency

A

Increased RBC transketolase activity after B1 admin

165
Q

Reaction in TCA that uses Riboflavin (B2)

A

Succinate Dehydrogenase

166
Q

Two treatments that bind to and excrete NH3

A

Benzoate and phenylbutryate Note: used in hyperammonemia and urea cycle deficiencies to allow NH3 excretion

167
Q

Excess NH3 depletes what in the cell to stop the TCA

A

Alpha-Ketoglutarate

168
Q

Increased ornithine and hyperammonemia w/ normal functioning urea cycle enzymes

A

hereditary N-acetylglutamate deficiency Note: TX w/ carbamoyl glutamate, necessary corfactor for Carbamoyl Phosphate Synthase 1

169
Q

Increased homocysteine in urine w/o megaloblastic anemia

A

Homocystinuria Note: Intellectual disability, osteoporosis, lens subluxation, tall, kyphosis, thrombosis/atherosclerosis

170
Q

Shuttles for FA synthesis and breakdown

A

Synthesis: Citrate; Breakdown: Carnitine

171
Q

Unique lipoprotein to chylomicrons

A

ApoB-48

172
Q

Paracrine release of Interferons alpha and Beta activate:

A

RNAaseL and Protein Kinase Note: Shut down both viral and host cell protein synthesis to prevent bacteria spread.w/ dsRNA present

173
Q

Helper T cells express what cell surface proteins

A

TCR, CD4, CD3, CD40L, CD28 Note: CD40L activates B cells and is not on CD8 Tcells

174
Q

Cell markers on NK cells

A

CD16, CD56 Note: CD16 bings Fc region of IgG

175
Q

Endotoxin receptor on macrophages

A

CD14

176
Q

Effect of inotropes on CO and Right atrial P

A

Increase CO and decrease RAP Note: CO curve shifted up, venous return curve does not move

177
Q

Effect of increased blood volume/decreased venous compliance on CO and RAP

A

Increased CO and increased RAP Note: CO curve does not move, VR curve shifted to the right

178
Q

Effect of Increased TPR on CO and RAP

A

Decreased CO and no change in RAP Note: CO curve shifted down (due to inc afterload), VR curve Rotated counterclockwise (due to inc TPR)

179
Q

Fasting is required for measure of what lipoprotein

A

LDL Note: LDL=CH-HDL-VLDL; VLDL is calculated as TG/5, so if not, fasting, TG will be high making LDL artificially low; If TG>400, LDL measured directly

180
Q

Receptor types for Parietal Cell (stomach) mediators

A

Ach & Gastrin– GqHistamine–GsProstaglandins and Somatostatin – Gi Note: Ca/IP3 and cAMP increase the H+/K+ ATPase on the luminal membrane

181
Q

What transmitter that increases gastric acid release does not have a clinically useful inhibitor

A

Gastrin Note: Ach by Atropine; Histamine by Ranitidine/Cimetidine/Famotidine

182
Q

Nuclei in the Striatem? Lentiform Nuclei?

A

Striatem- Putamen and CaudateLentiform- Putamen and Globus pallidus

183
Q

Largest contributor of functional dead space in the lung

A

Apex

184
Q

Lung volume for minimum pulmonary vascular resistance

A

Functional Residual Capacity

185
Q

AV node location

A

In interatrial septum near the right AV orifice

186
Q

Most bactial efflux pumps used for Abx resistance use what as the energy source to pump out the drug

A

H+ out of the cell (secondary active transport) Note: Adding H+ prevents bacterial efflux of drugs

187
Q

Stain for cartilage

A

Safranin O

188
Q

Axillary sweating is mediated by what

A

Cholinergic Postganglionic sympathetic fibers from the thoracic sympathetic trunk

189
Q

What hormone increases in a Nephrogenic DI pt that was water deprived

A

Vasopressin Note: Vasopressin is high but the kidney cannot respond

190
Q

Histology of endometrium in secretory/Luteal phase

A

NAME?

191
Q

LH induces testosterone production where in female

A

Theca Interna Note: NOT in Theca Externa (structural support only)

192
Q

Hypothalamus hormone that Stimulates Prolactin release

A

TRH Note: Primary/Secondary hypothyroidism can cause galactorrhea

193
Q

Two mechanisms of cellular Atrophy

A

Polyubiquitination and Autophagy

194
Q

Clotting factor involved in Coagulation, Fibrinolysis, Kinin/Kallikrein, and Complement

A

Hageman Factor (Factor XII)

195
Q

First Step of Primary Hemostasis

A

Transiet Vasoconstriction of damaged vessel

196
Q

If platelet count not given, does petechiae indicate quantitative or qualitative platelet disorder

A

Quantitative

197
Q

Immune thrombocyopenic pupura is mediated by what cells

A

Plasma cells in the spleen Note: Increased mature megakaryocytes on BM biopsy

198
Q

Failure of PTT to rise w/ heparin tx

A

Antithrombin III deficiency Note: Genetic or Nephrotic Syndrome

199
Q

Alpha Thalassemia tetramers

A

3 deletions: HbH (Beta tetramer); 4- HbBarts (gamma tetramer)

200
Q

Types of error that reduce precision? Accuracy?

A

Precison-Random error; Accuracy-Systematic error

201
Q

What aspect of the DNA code allows for the 3’ wobble

A

Degeneracy

202
Q

Isoniazid can cause deficiency of what two vitamins

A

B6/Pyridoxine and B3/Niacin Note: B6 is necessary for Niacin synthesis

203
Q

What GI ligament is pinched to control bleeding of the portal vein

A

Hepatoduodenal Note: Contains the portal triad–Portal vein, hepatic artery, common bile duct

204
Q

Which gastric arteries have poor anastomoses if blocked

A

Short Gastric Note: supply the fundus of stomach off splenic artery

205
Q

The femoral sheath does not contain what structure

A

femoral nerve

206
Q

Cremaster muscle is derived from what structure

A

Internal oblique

207
Q

What two structures form the kidney

A

Metanephric MesenchymeUreteric Bud (from mesonephric duct) Note: –>Glomerulus to distal tubule–>Collecting duct to Ureter

208
Q

Most common location of obstruction causing hydronephrosis

A

Uretopelvic junction Note: Last to canalize

209
Q

Modified smooth muscle cells in the afferent arteriole

A

Juxtaglomerular apparatus Note: Release renin in response to B1 stimulus, low renal perfusion, and low NaCl to macula densa

210
Q

What receptor subtype is effected in Parkinsons

A

D2 Note: GiPCR

211
Q

What does DA in the Tuberoinfundibular tract lead to

A

Decreased prolactin

212
Q

What does DA in the CTZ lead to

A

Emesis

213
Q

What effect of Parkinson’s does anticholinergic TX not fix

A

Bradykinesia

214
Q

How do Nitrates cause vasodilation

A

Form Nitrous Oxide which activates guanalyl cylase, which increases cGMP Note: Increased cGMP causes dephosphorylation of myosin light chain kinase

215
Q

What does Thrombin time test

A

Fibrinogen deficiency/abnormality or Factor 13

216
Q

Effects of estrogen on lipids

A

Increase: TG and HDL; Decrease: LDL

217
Q

Acidic AA, Basic AA

A

Acidic: Aspartate and GlutamateBasic: Arginine, Lysine, and Histidine Note: Arginine and Lysine are enriched in histones (bind negatively charged DNA)

218
Q

One of the two NH3 in urea comes from what AA

A

Aspartate

219
Q

Three nutrition deficiencies that result in poor wound healing

A

Vit C, Copper, Zinc Note: Vit C- Proline/Lysine Hydroxylase; Copper- Lysyl Oxidase; Zinc- Collagenase (type 3 to 1)

220
Q

When can enzyme studies be done to confirm G6PD deficiency

A

Weeks after a hemolytic episode Note: Otherwise only cells w/ the enzyme will be left (need cells beyond G6PD’s half life)

221
Q

Eyelid muscle innervation

A

Superior Tarsal–sympathetic (lost in Horner’s)Levator Palpebrae–parasympathetic

222
Q

Almost all skin below the umbilicus drains to the Superficial inguinal lymph nodes, what areas drain to the Popliteal nodes?

A

Posterior calf and Dorsolateral foot

223
Q

Hormone that influences LDL receptor expression

A

Thyroid Hormone Note: Hypothyroidism–>Hypercholesterolemia due to decreased LDL receptorsHyperthyroidism–>Hypocholesterolemia due to increased LDL receptors

224
Q

Connection between the second Branchial pouch and second branchial cleft

A

Congenital Pharyngo-cutaneous fistula Note: fistula between the tonsillar area and lateral neck

225
Q

1st arch neural crest fails to migrate

A

Treacher-Collins syndrome Note: mandibular hypoplasia and facial abnormalities

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