Clinical Correlates Flashcards

1
Q

Blue lips, cyanosis

A

Hypoxia

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2
Q

Low hemoglobin concentration

A

Anemia

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3
Q

Throbbing headache, confusion, cherry red lips

A

CO poisoning

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4
Q

Chocolate colored blood

A

Methemoglobinemia, treated with methylene blue

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5
Q

Mutation in hemoglobin beta, chest pain

A

Sickle cell. Hydroxyurea to treat

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6
Q

Ethylene glycol poisoning

A

Generates bad metabolites, treated with ethanol

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7
Q

Sulfa drug function

A

Inhibits bacterial enzyme it needs. Penicillin, Prilosec, etc

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8
Q

LDH1 in blood

A

Heart damage

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9
Q

Fragmentation of nuclei

A

Karyorrhexis

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10
Q

Condensation of chromatin and nuclei

A

Pyknosis

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11
Q

No nuclei

A

Karolysis

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12
Q

Over expression telomerase

A

Cancers

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13
Q

Deletion of part of chromosome 15

A

Prader Willi Angelman

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14
Q

Mutations in lamins A and C

A

Emery dreifuss muscular dystrophy

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15
Q

Point mutation in lamin A, early aging

A

Progeria

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16
Q

Mutations in nuclear pores

A

Leukemia’s and liver issues

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17
Q

Abnormal proliferation

A

Neoplasia

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18
Q

Find cell cycle position

A

Flow cytometry

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19
Q

Trisomy 21

A

Down’s syndrome

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20
Q

Trisomy 18

A

Edwards syndrome

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21
Q

Trisomy 13

A

Patau syndrome

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22
Q

High levels of cyclin D and E

A

Poor cancer prognosis

23
Q

Drugs that affect bacterial gyrases

A

Ciprofloxacin, nalidixic acid

24
Q

Prone to skin cancer, live indoors, dna repair issue

A

Xeroderma pigmentosum

25
Q

Aberrant cholesterol metabolism in brain

A

Alzheimer’s, bad lipid rafts

26
Q

How do viruses get into cells?

A

Lipid rafts

27
Q

Overexpression flotillins

A

Alzheimers, cancer etc

28
Q

Deceased electron transport proteins, muscle weakness, epilepsy. Issues with tRNA

A

MERRF

29
Q

Blindness as young adult, electron transport chain issues

A

LHON

30
Q

Fine until mid childhood, then severe neuro defects. Problems with fatty acid oxidation

A

X linked ADL

31
Q

Empty peroxisomes, defects in brain liver and kidneys

A

Zellweger

32
Q

RAS and SRC can be what?

A

Oncogenic

33
Q

Immobility of axoneme, respiratory issues, male infertility.

A

Primary ciliary diskinesia

34
Q

vincristine and vinblastine depolymerize what?

A

Mitotic MTs

35
Q

TAU protein proliferation

A

Alzheimer’s

36
Q

Actin binding protein dystrophin is defective. Severe has upstream frame shift

A

Duchenne/Becker muscular dystrophy

37
Q

Troponin I and T found when?

A

Myocardial infarction

38
Q

IF filaments can determine what?

A

Cancer cell of origin.

39
Q

Mutant cytokeratin produces skin that doesn’t hold together

A

Epidermolysis bullosa

40
Q

Modification by SES can cause what to toxins

A

Make them more carcinogenic

41
Q

Chloride transporter issues, kept in ER

A

Cystic fibrosis

42
Q

Bad processing of lysosomal hydrolase

A

L cell disease

43
Q

LDL receptor mutation

A

Atherosclerosis

44
Q

Defect in L iduronidase. Skeletal deformities and cardiac issues

A

Hurlers syndrome

45
Q

Defect in hexosaminidase A. Nervous system issues

A

Tay Sachs

46
Q

Mutations in turnover of membrane components

A

Niemann Pick and Gauchers

47
Q

Empty lysosomes, lack of M6P tagging

A

I cell disease

48
Q

Faulty ubiquinitation

A

Neuro disorders

49
Q

C perfringins toxin

A

Messes with claudins and degrades z occludens

50
Q

H pylori

A

Binds JAM and ZO, messing with occludens. Ulcers.

51
Q

Autoimmune disease where desmosomes are attacked

A

Pemphigus vulgaris

52
Q

Connexin protein defects

A

Deafness, nerves, cataracts?

53
Q

Antibodies made for BP230

A

Bullous pemphygoid