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MCM > BLUE BOXES > Flashcards

BLUE BOXES Flashcards

1
Q

gastric proton pump inhibitors

A

proton pump = H+/K+ ATPase
parietal cells
pumps H+ to lumen -> HCl

PPIs decrease HCl production (reduce acidity)

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2
Q

chelating agents for lead poisoning

A 
Pb+ binds to heme, impairs heme synthesis
treat w/ Ca-EDTA (chelating agent) 
displaces Pb from heme 
abdominal pain, anemia, headaches
(heme not formed, RBCs, anemia)
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3
Q

troponin in myocardial infarction

A

isozyme in wrong place (blood, different organ, etc) -> sign of damage/disease
ex: run troponin lab test to indicated MI

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4
Q

respiratory acidosis

A

hyporventilation -> rise in CO2 -> drives equation to left -> increase H+, dec. pH

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5
Q

metabolic acidosis

A

strong acid (ex: lactate, ketone bodies) -> diarhea -> loss HCO3- -> drive equation to left -> increase H+, dec. pH

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6
Q

metabolic alkalosis

A

strong base (antiacid) or loss of acid (vomiting) -> increase HCO3- -> drive equation to right -> increase CO2

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7
Q

phosphatidylserine significance

A

marker for apoptosis when moved to extracellular membrane (typically facing inside of cell)

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8
Q

Niemann-Pick Disease

A

Deficiency: acid spingomylenase
Buildup of SM in lysosomes, bone marrow, CNS, liver
Result: hepatomegaly, neuro symptoms, cherry red spot on eye

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9
Q

Type O Blood Group

A

universal donor
RBC has no Ags on surface
has Abs against A + B
can only receive from type O

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10
Q

Type AB Blood Group

A

universal acceptor

RBC has Ag A + B on surface, no Abs against either type

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11
Q

Spur Cell Anemia

A

high levels of cholesterol -> decreased fluidity of RBCs membranes -> lyse in capillaries of the spleen

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12
Q

Cardiotonic Drugs

A

used to treat CVD (ouabain)

inhibit Na+/K+ATPase -> increased Na+ in cell -> increase Ca2+ in cell due to slowed NCX -> inc. contraction

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13
Q

Cystinuria

A

Deficiency: dibasic AAs transporter -> cystine crystals, renal stones -> renal colic

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14
Q

Hartnup disease

A

deficiently in nonpolar AA transporter -> tryptophan buildup in kidney/intestine –> failure to thrive, nystagmus, ataxia

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15
Q

Cystic Fibrosis

A

mutation in CFTR (Cl- transporter) -> Cl- buildup in lung cells -> Na+ and H2O follow -> mucous surrounding cells becomes dehydrated/sticky

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16
Q

Crohn’s Disease

A

diseased bowel sections -> poor absorption -> nutritional deficiencies

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17
Q

Sweeteners - sugar alcohols

A

used as artificial sweeteners
little is metabolized
absorbed in SI -> excreted in urine -> less fluctuation in BS

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18
Q

Gallstones

A

gall bladder stores bile, if contains too much cholesterol -> bile hardens to stones

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19
Q

Fanconi-Bickel syndrome

A

GLUT2 transporter deficiency

glucose can’t be released, glycogen gets trapped in liver -> hepatomegaly

20
Q

Fructose 1,6 bisphosphate deficiency

A

enzyme in glycolysis deficient -> hypoglycemia

21
Q

Von Gierke Disease/ GSD 1

A

deficiency in glucose-6-phosphatase -> free glucose can’t get out of liver b/c its phosphorylated -> hypoglycemia, lactic acid, hepatomegaly (glycogen buildup)

22
Q

High fructose corn syrup -> obesity

A

fructose enters glycolysis after rate limiting step (PFK) -> converted easier to FAs

23
Q

galactosemia

A

deficiency in galactose enzyme -> galactose in blood -> cataracts

24
Q

GSD0

A

glycogen synthase deficiency –> hypoglycemia

25
Q

GSD II/Pompe Disease

A

acid maltase deficiency
lysosomal glycogenolysis disrupted -> glycogen buildup (can’t break it down)
ENZYME REPLACEMENT THERAPY

26
Q

GSD III/Cori Disease

A

deficiency in debranching enzyme of glycogenolysis -> enlarged liver from glycogen buildup

27
Q

GSD IV/Andersen Disease

A

deficiency in glucosyl (4:6) transferase -> can’t branch glycogen -> enlarged liver, cirrhosis

28
Q

GSD V/McArdle Disease

A

deficiency in muscle glycogen phosphorylase in muscle (RL enzyme of glycogen breakdown)
no glycogen production in muscle

29
Q

GSD VI/Her’s Disease

A

deficiency in liver glycogen phosphorylase

(RL enzyme in glycogen breakdown), enlarged liver

30
Q

MCAD Deficiency

A

Medium chain FAs can’t be broken down
secondary carnitine deficiency (largely excreted)
FAs accumulate in liver, elevated ammonia, depend on glucose for energy

31
Q

2-oxoglutaric acid aciduria

A

developmental delay, metabolic acidosis

32
Q

fumarase deficiency

A

neuro impairment, fatal, encephalopathy, increase excretion of intermediates of TCA cycle

33
Q

Luft’s disease

A

first mito disorder discovered –> hypermetabolism (high caloric intake, no weight gain, weakness
uncoupled ETC

34
Q

Hyperhomocysteinemia

A

Caused by Vitamin deficiciencies (B6, B12, and folic acid) —> defective metabolism —> atherosclerotic HD and stroke, eye lens dislocation, osteoporosis, mental retardation

35
Q

Phenylketonuria (PKU)

A

Defects in phenylalanine hydroxylase activity
Inborn error —> musty urine smell
Disrupt Neuro transmission, block AA transport in the brain, block myelin formation

36
Q

Maple Syrup Urine Disease

A

Deficiency of keto acid dehydrogenase —> branched chain AAs in urine —> burnt maple sugar smell in urine
Toxic effects on brain
Limit brained chain AA (Val, Leu, Ile)

37
Q

Grave’s disease

A

Hyperthyroidism—> treat w/ agents that block thyroglobulin (produces the thyroid hormones)

38
Q

albinism

A

Tyrosine to melanin reaction is deficient —> Lack of melanin

39
Q

Parkinsonism

A

Neural tissue destruction —>Loss of dopa to dopamine —> tremors, difficulty in movement
Defects in tyrosine hyroxylase

40
Q

Ammonia toxicity

A

Ammonia can cross blood brain barrier
PH imbalance, edema,
Inhibits TCA cycle b/c of decreased a-ketoglutarate

41
Q

Sulfa drugs

A

Only act on bacterial enzymes, don’t harm humans

Inhibits DNA replication

42
Q

Methotrexate

A

Down regulates purine synthesis

Used as cancer drug

43
Q

Acyclovir

A

Deprive cells of GMP
Antiviral
Incorporates itself into DNA -> terminates replication
Can be used to promote healing of sores

44
Q

Severe combined immunodeficiency

A

B and T cells impaired

Low levels of dNTPs impair DNA synthesis —> immune system is compromised

45
Q

Gout

A

High levels of Uric acid —> accumulates in joints, especially lower extremities
Can be triggered by high purine diet (meat, EtOH)
Diagnosed by UA

46
Q

Lesch-Nyah’s syndrome

A

Defect in purine salvage pathway —> high uric acid —>

—> gout, kidney stones, poor muscle control, mental retardation

MCM (2 decks)

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