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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
methemoglobinemias
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
Pellegra
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
Tetrahydrofolate deficiency
spina bifida (myelomeningocele) and low birth weight.
28
plantar fasciitis
inflammation of the plantar fascia
29
What determines ABO blood group designation?
one or more uncharged sugar residues on the glycolipid
30
lysosomal storage diseases
errors in metabolism
31
methotrexate
strong competitive inhibitor of dihydrofolate reductase shuts down DNA synthesis with this inhibition and is used as a cancer tx
32
HMG-CoA reductase inhibitors (statins)
lower cholesterol levels by inhibiting the rate limiting step of cholesterol synthesis
33
Beta-lactam antibiotics
(penicillin) irreversibly inhibits transpeptidase
34
Fluorouracil
irreversibly inhibits thymidylate synthase and is used to topically treat actinic or solar keratoses as well as skin cancer
35
Proton pump inhibitors (PPI such as Prilosec and Prevacid) do what
block K+/K+ ATPase secretion of H+ fro gastric cells
36
how does AZT work?
is a nitrogenous base analog that only viruses use for replication. used for HIV
37
Rhett syndrome
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
antibiotics such as quinolones (ciprofloxacin) and anticancer drugs (doxorubicin) target
topoisomerase, which are essential to relax supercoiling stress and maintaining negative supercooling by breaking DNA then re-sealing it
39
How does Acyclovir work?
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
mitochondrial DNA depletion syndromes are progressive disease affecting what patient populations?
children young adults those treated for HIV-1 and Hepatitis B virus infections
41
Examples of mitochondrial DNA depletion syndromes
Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndrome
42
PRPP synthetase overactivity causes what?
purine overproduction gout
43
HGPRT being partially deficient causes what?
purine overproduction gout
44
HGPRT being completely deficient causes what?
Lesch-Nyhan Syndrome (x-linked recessive) ``` purine overproduction gout/kidney stones cerebral palsy MR self-mutilation ```
45
adenosine deaminase deficiency causes what?
severe combined immunodeficiency disease (T and B cell deficiency)
46
purine nucleoside phosphorylase deficiency causes what?
purine nucleoside phosphorylase deficiency. Autosomal recessive. Causes immunodeficiency (T cell deficiency)
47
orotatee phosphoribzosyltransferase and orotidylate decarboxylase deficiency cause what?
orotic acuduria, type I tx: pyrimidine nucleosides
48
orotidylate decarboxylase deficiency results in?
orotic acuduria type II tx: pyrimidine nucleosides
49
sulfonamides and methotrexate
Competitive inhibitors (inhibitors) of folate metabolism in purine biosynthesis. Sulfonamides are used on bacteria and methotrexate are used on both bacteria and humans.
50
azaserine
is a guanine analogue that inhibits purine biosynthesis
51
what causes anencephaly and spinal bifida?
lack of folic acid during development
52
what is Allopurinol use for?
analogue of Xanthine oxidase. Makes more hypoxanthine and guanine, limits amount of uric acid being produced (used for pts with gout/kidney stones)
53
emery-dreifuss muscular dystrophy
two types: 1. autosomal dominant (mutation in lamins A and C) 2. X-linked (mutations in emerin) Sx: muscle weakness in extremities, stiff elbows/achilles/neck, heart arrhythmia prognosis: pts will need a defibrillator
54
Hutchinson-Gilford progeria syndrome
hair loss, stunted growth, and early onset of arthritis, atherosclerosis, and DM. usually fatal by mid-teens mutation in lamin A
55
Prader-Willi Syndrome
4 megabase deletion on chromosome 15q Transmitted by father Sx: moderate MR, hypogonadism, small hands/feet, and obesity mother's gene is imprinted
56
Angelman Syndrome
4 megabase deletion on chromosome 15q transmitted by mother Sx: Severe MR, seizures, ataxic gate, and behavior disorders gene from father is imprinted
57
Streptomycin
inhibits initiation of protein translation by binding to and distorting the structure of the 30S ribosomal unit
58
Tetracyclines
inhibits elongation in protein translation by blocking access to the A site through interaction with the 30S ribosome
59
Chloramphenicol
blocks protein translation elongation by binding to and inhibiting peptidyltransferase activity of the 50S ribosome, preventing formation of peptide bond
60
Erythromycin/clindamycin
inhibits translocation of the ribosome during translation elongation by binding to the 50S subunit
61
Puromycin
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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