Fundementals

Question 1

Ehlers-Danlos

Answer 1

collagen mutation Gly934 to Arg or Arg134 to S

fragile

Question 2

Osteogenesis Imperfecta

Answer 2

Gly to A,V,S

brittle bone disease

Question 3

Scurvy

Answer 3

ascorbate deficienncy

collagen not stable

Question 4

Marfan’s syndrome

Answer 4

bad fibrillin protein

excessively long extremities and fingers, weak tendons, blood vessels, connective tissue, affects ECM/cell

Question 5

Rh disease (hemolytic disease of the newborn, erythroblastosis fetalis)

Answer 5

Rh+ baby born to sensitized Rh- mom

Blood Cells Attack

Question 6

Benign Prostatic Hyperplasia

Answer 6

prostate epithelium and stroma cells replicate

swollen prostate

Question 7

hpv

Answer 7

virus shows big nuc and hyperchromasia

can lead to cervical cancer

Question 8

steatosis

Answer 8

fat in liver from alcohol, diabetes, etc

Question 9

atherosclerosis

Answer 9

lipids/cholesterol for atheromas in vessels

Poor Perefusion

Question 10

alpha anti-trypsin deficiency

Answer 10

anti-trypsin stuck in liver, doesn’t protect lungs

bad liver and lungs

Question 11

1’ hemochromatosis

Answer 11

too much Fe absorbed; genetic

Question 12

2’ hemosiderosis

Answer 12

RBC’s break, iron escapes

Question 13

Hypercalcemia

Answer 13

hyperparathyroidism or bone destruction

Question 14

Multiple Myeloma

Answer 14

AL amyloidosis in plasma cell

Bone Lesions/Proteins

Question 15

Rhematoid Arthriti

Answer 15

AA amyloidosis

Chronic Inflammation

Question 16

Alzheimers

Answer 16

AB amyloidosis

Brain Degredation

Question 17

Kartageners Syndrome/Primary Ciliary Dyskinesia

Answer 17

defective dyeins

bad cilia in lungs, oviducts, sperm, situs inversus, male infertility, sinusitis, bronchiectasis

Question 18

Epidermolytic Bullosa Simplex

Answer 18

fragile keratin fibers

skin blisterings

Question 19

CF

Answer 19

fac. Diff (Cl- channel CFTR)