Clinical Correlates

Question 1

Blue lips, cyanosis

Answer 1

Hypoxia

Question 2

Low hemoglobin concentration

Answer 2

Anemia

Question 3

Throbbing headache, confusion, cherry red lips

Answer 3

CO poisoning

Question 4

Chocolate colored blood

Answer 4

Methemoglobinemia, treated with methylene blue

Question 5

Mutation in hemoglobin beta, chest pain

Answer 5

Sickle cell. Hydroxyurea to treat

Question 6

Ethylene glycol poisoning

Answer 6

Generates bad metabolites, treated with ethanol

Question 7

Sulfa drug function

Answer 7

Inhibits bacterial enzyme it needs. Penicillin, Prilosec, etc

Question 8

LDH1 in blood

Answer 8

Heart damage

Question 9

Fragmentation of nuclei

Answer 9

Karyorrhexis

Question 10

Condensation of chromatin and nuclei

Answer 10

Pyknosis

Question 11

No nuclei

Answer 11

Karolysis

Question 12

Over expression telomerase

Answer 12

Cancers

Question 13

Deletion of part of chromosome 15

Answer 13

Prader Willi Angelman

Question 14

Mutations in lamins A and C

Answer 14

Emery dreifuss muscular dystrophy

Question 15

Point mutation in lamin A, early aging

Answer 15

Progeria

Question 16

Mutations in nuclear pores

Answer 16

Leukemia’s and liver issues

Question 17

Abnormal proliferation

Answer 17

Neoplasia

Question 18

Find cell cycle position

Answer 18

Flow cytometry

Question 19

Trisomy 21

Answer 19

Down’s syndrome

Question 20

Trisomy 18

Answer 20

Edwards syndrome

Question 21

Trisomy 13

Answer 21

Patau syndrome

Question 22

High levels of cyclin D and E

Answer 22

Poor cancer prognosis

Question 23

Drugs that affect bacterial gyrases

Answer 23

Ciprofloxacin, nalidixic acid

Question 24

Prone to skin cancer, live indoors, dna repair issue

Answer 24

Xeroderma pigmentosum

Question 25

Aberrant cholesterol metabolism in brain

Answer 25

Alzheimer’s, bad lipid rafts

Question 26

How do viruses get into cells?

Answer 26

Lipid rafts

Question 27

Overexpression flotillins

Answer 27

Alzheimers, cancer etc

Question 28

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

Answer 28

MERRF

Question 29

Blindness as young adult, electron transport chain issues

Answer 29

LHON

Question 30

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

Answer 30

X linked ADL

Question 31

Empty peroxisomes, defects in brain liver and kidneys

Answer 31

Zellweger

Question 32

RAS and SRC can be what?

Answer 32

Oncogenic

Question 33

Immobility of axoneme, respiratory issues, male infertility.

Answer 33

Primary ciliary diskinesia

Question 34

vincristine and vinblastine depolymerize what?

Answer 34

Mitotic MTs

Question 35

TAU protein proliferation

Answer 35

Alzheimer’s

Question 36

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

Answer 36

Duchenne/Becker muscular dystrophy

Question 37

Troponin I and T found when?

Answer 37

Myocardial infarction

Question 38

IF filaments can determine what?

Answer 38

Cancer cell of origin.

Question 39

Mutant cytokeratin produces skin that doesn’t hold together

Answer 39

Epidermolysis bullosa

Question 40

Modification by SES can cause what to toxins

Answer 40

Make them more carcinogenic

Question 41

Chloride transporter issues, kept in ER

Answer 41

Cystic fibrosis

Question 42

Bad processing of lysosomal hydrolase

Answer 42

L cell disease

Question 43

LDL receptor mutation

Answer 43

Atherosclerosis

Question 44

Defect in L iduronidase. Skeletal deformities and cardiac issues

Answer 44

Hurlers syndrome

Question 45

Defect in hexosaminidase A. Nervous system issues

Answer 45

Tay Sachs

Question 46

Mutations in turnover of membrane components

Answer 46

Niemann Pick and Gauchers

Question 47

Empty lysosomes, lack of M6P tagging

Answer 47

I cell disease

Question 48

Faulty ubiquinitation

Answer 48

Neuro disorders

Question 49

C perfringins toxin

Answer 49

Messes with claudins and degrades z occludens

Question 50

H pylori

Answer 50

Binds JAM and ZO, messing with occludens. Ulcers.

Question 51

Autoimmune disease where desmosomes are attacked

Answer 51

Pemphigus vulgaris

Question 52

Connexin protein defects

Answer 52

Deafness, nerves, cataracts?

Question 53

Antibodies made for BP230

Answer 53

Bullous pemphygoid