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Clinical Diseases/Sx > MS1, 1st semester > Flashcards

MS1, 1st semester Flashcards

1
Q

Sx seen in Chdiak-Higashi syndrome?

A

Pyogenic infection, partial albinism, and peripheral neuropathy

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2
Q

What is chdiak-Higashi syndrome?

A

microtubule polymerization defect that leads to impaired lysosomal emptying and poor phagocytosis

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3
Q

Examples of protein folding diseases include:

A

Alzheimers, Parkinsons, ALS, Huntingtons, and prions

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4
Q

Smoking inactivates alpha-1 antitrypsin by what?

A

oxidizing an essential methionine

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5
Q

Collagen affected in osteogenesis imperfecta

A

Type I (fibril-forming)

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6
Q

Collagen affected in Ehlers-Danlos type VII

A

Type I

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7
Q

Collagen affected in Ehlers-Danlos type IV

A

Type III

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8
Q

Collagen affected in Alport syndrome

A

Type IV (network forming)

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9
Q

Collagen affected in DEB (dystrophic form of epidermolysis bullosa)

A

Type VII (anchoring fibrils)

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10
Q

Sx of Alport syndrome

A

progressive nephritis, hearing loss, and ocular lesions

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11
Q

Mutation of the fibrillin-1 gene causing malformation of digits, limbs, and anterior chest wall as well as myopia due to lens dislocation and large lower aorta with weak walls

A

Marfan syndorme

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12
Q

What is used to screen for premature delivery?

A

Fetal fibronectin

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13
Q

Defect in the laminin, which connects epidermis to dermis, would result in what?

A

junctional epidermolysis bullosa (JEB)

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14
Q

what two cancer drugs destabilize microtubules? what drug stabilizes the microtubules?

A

vincristine and vinblastine

Packitaxel

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15
Q

What is Wiskott-Aldrich syndrome?

A

genetically inherited x-linked recessive mutation in gene coding for WAS protein (fxn: activates Arp 2/3) found almost exclusively in males that causes:

  • recurrent pyogenic infections
  • eczema
  • thrombocytopenia (most common sx, leads to bleeding problems)
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16
Q

What is the defect in EBS?

A

defective keratin

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17
Q

Leukocyte adhesion deficiency

A

loss of beta2 integrins, causing its to suffer from repeat infections

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18
Q

Glanzmann’s disease (thrombasthenia)

A

beta3 is missing or defective so cannot form alphaIIbBeta3, which is the receptor for fibrinogen. platelets cant bind to the fibrinogen, so pt bleeds excessively. tx: platelet transfusions

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19
Q

explain how presence of APC gene mutation can lead to familial adenomatous polyposis

A

APC is a part of the destruction complex in the wnt pathway. If it is mutated, it cannot form complex to bind to beta-catenin. When it beta-catenin is not signaled for apoptosis from the destruction complex it will bind to transcription factors in the nucleus and activate target genes

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20
Q

Defect in desmosomes in the skin lead to what disease?

A

pemphigus

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21
Q

Charcot-Marie-Tooth Disease

A

one cause: mutation in connexin 32 gene (part of gap jxn) causing eventual loss of myelin in periphery

-other sx: deafness, skin diseases, cataracts, an cardiac arrhythmia

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22
Q

why is CO poisoning so dangerous?

A

CO has a much higher affinity to hemoglobin than O2 does

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23
Q

Hemoglobin of normal adults, sickle cell adults, and infants

A

normal adults (HbA): alpha2beta2

sickle cell adults (HbS): alpha2bet(^s)2

infants (HbF): alpha2gamma2

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24
Q

sickle cell anemia

A

Hb Glu–> Val 6 (polar to non-polar)

RBC normally 120 days, now 20 days

sickles the cells in low blood oxygen, low pH, high pCO2, and high BPG
most prevalent in African American pop.

sx: fatigue, SOB, painful crisis

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25
Q

methemoglobinemias

A

Hb with Fe3+ instead of Fe2+. has reduced ability to release oxygen to tissues (hypoxia)

blue people Kentucky

caused by:

  • reactive oxygen intermediates
  • some inherited NADH-methemogloin reductase deficiency
  • kiddos need lower levels of benzocaine, capsone, and processed meats*
    tx: methylene blue
26
Q

Pellegra

A

dietary deficiency of niacin, the vitamin form of NAD and NADP.

Tryptophan can make niacin when in excess

deficiency is common in EtOH abusers

27
Q

Tetrahydrofolate deficiency

A

spina bifida (myelomeningocele) and low birth weight.

28
Q

plantar fasciitis

A

inflammation of the plantar fascia

29
Q

What determines ABO blood group designation?

A

one or more uncharged sugar residues on the glycolipid

30
Q

lysosomal storage diseases

A

errors in metabolism

31
Q

methotrexate

A

strong competitive inhibitor of dihydrofolate reductase

shuts down DNA synthesis with this inhibition and is used as a cancer tx

32
Q

HMG-CoA reductase inhibitors (statins)

A

lower cholesterol levels by inhibiting the rate limiting step of cholesterol synthesis

33
Q

Beta-lactam antibiotics

A

(penicillin) irreversibly inhibits transpeptidase

34
Q

Fluorouracil

A

irreversibly inhibits thymidylate synthase and is used to topically treat actinic or solar keratoses as well as skin cancer

35
Q

Proton pump inhibitors (PPI such as Prilosec and Prevacid) do what

A

block K+/K+ ATPase secretion of H+ fro gastric cells

36
Q

how does AZT work?

A

is a nitrogenous base analog that only viruses use for replication. used for HIV

37
Q

Rhett syndrome

A

de novo X chromosome mutation of the methyl CPG binding protein (involved in chromatin conformation).

Only found in females

sx: MR (second leading genetic cause only to downs), neurodevelopmental delays, hand wringing

38
Q

antibiotics such as quinolones (ciprofloxacin) and anticancer drugs (doxorubicin) target

A

topoisomerase, which are essential to relax supercoiling stress and maintaining negative supercooling by breaking DNA then re-sealing it

39
Q

How does Acyclovir work?

A

It is a guanine attached to an incomplete ribose ring that acts as a chain terminator in viruses such as herpes simplex virus and chicken pox.

has 200x greater affinity for viral polymerase compared to cellular component

40
Q

mitochondrial DNA depletion syndromes are progressive disease affecting what patient populations?

A

children
young adults
those treated for HIV-1 and Hepatitis B virus infections

41
Q

Examples of mitochondrial DNA depletion syndromes

A

Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndrome

42
Q

PRPP synthetase overactivity causes what?

A

purine overproduction

gout

43
Q

HGPRT being partially deficient causes what?

A

purine overproduction

gout

44
Q

HGPRT being completely deficient causes what?

A

Lesch-Nyhan Syndrome (x-linked recessive)

purine overproduction
gout/kidney stones
cerebral palsy
MR
self-mutilation
45
Q

adenosine deaminase deficiency causes what?

A

severe combined immunodeficiency disease (T and B cell deficiency)

46
Q

purine nucleoside phosphorylase deficiency causes what?

A

purine nucleoside phosphorylase deficiency. Autosomal recessive. Causes immunodeficiency (T cell deficiency)

47
Q

orotatee phosphoribzosyltransferase and orotidylate decarboxylase deficiency cause what?

A

orotic acuduria, type I

tx: pyrimidine nucleosides

48
Q

orotidylate decarboxylase deficiency results in?

A

orotic acuduria type II

tx: pyrimidine nucleosides

49
Q

sulfonamides and methotrexate

A

Competitive inhibitors (inhibitors) of folate metabolism in purine biosynthesis. Sulfonamides are used on bacteria and methotrexate are used on both bacteria and humans.

50
Q

azaserine

A

is a guanine analogue that inhibits purine biosynthesis

51
Q

what causes anencephaly and spinal bifida?

A

lack of folic acid during development

52
Q

what is Allopurinol use for?

A

analogue of Xanthine oxidase. Makes more hypoxanthine and guanine, limits amount of uric acid being produced (used for pts with gout/kidney stones)

53
Q

emery-dreifuss muscular dystrophy

A

two types:
1. autosomal dominant (mutation in lamins A and C)

  1. X-linked (mutations in emerin)

Sx: muscle weakness in extremities, stiff elbows/achilles/neck, heart arrhythmia

prognosis: pts will need a defibrillator

54
Q

Hutchinson-Gilford progeria syndrome

A

hair loss, stunted growth, and early onset of arthritis, atherosclerosis, and DM.
usually fatal by mid-teens

mutation in lamin A

55
Q

Prader-Willi Syndrome

A

4 megabase deletion on chromosome 15q

Transmitted by father

Sx: moderate MR, hypogonadism, small hands/feet, and obesity

mother’s gene is imprinted

56
Q

Angelman Syndrome

A

4 megabase deletion on chromosome 15q

transmitted by mother

Sx: Severe MR, seizures, ataxic gate, and behavior disorders

gene from father is imprinted

57
Q

Streptomycin

A

inhibits initiation of protein translation by binding to and distorting the structure of the 30S ribosomal unit

58
Q

Tetracyclines

A

inhibits elongation in protein translation by blocking access to the A site through interaction with the 30S ribosome

59
Q

Chloramphenicol

A

blocks protein translation elongation by binding to and inhibiting peptidyltransferase activity of the 50S ribosome, preventing formation of peptide bond

60
Q

Erythromycin/clindamycin

A

inhibits translocation of the ribosome during translation elongation by binding to the 50S subunit

61
Q

Puromycin

A

structural analog of tyrosyl-tRNA that causes premature release of the polypeptide when it is incorporated into the A site during protein translation

Effects prokaryotes and eukaryotes

Clinical Diseases/Sx (1 decks)

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