Clinical Conditions

Question 1

Amyloidosis

Answer 1

misfolding of proteins making them insoluble (normally soluble)
effects dependent on location (brain -> alzheimers/dementia)

Question 2

Sickle Cell Anaemia

Answer 2

Autosomal Recessive (Glutamate (hydrophilic) -> Valine (hydrophobic))
Hydrophobic know which joins to natural hydrophobic pocket when Hb in T state. Polymerised Hb adopts a sickle shape.
Blocks microvasculature causing a crisis (pain and ischaemia)
Made worse by anything that reduces O2 availability eg smoking, obesity, cold, infection etc

Question 3

Cystic Fibrosis

Answer 3

Defective CFTR (CF Transmembrane Regulator) gene. Impaired ability to transport Na+ and Cl-. Water wont move out by osmosis, thus thick sticky mucus is produced

Question 4

Gout

Answer 4

sodium urate crystals

usually in the big toe and comes on suddenly

Question 5

Psoriasis

Answer 5

long-term auto immune condition

scaly red patches of skin due to increased proliferation of skin cells

Question 6

Cystic Fibrosis

Answer 6

CFTR mutation so the transporter doesn’t work
Cl- wont move out so H20 wont move out
you get very thick mucus

Question 7

Diarrhoea

Answer 7

lots of chloride ions move out

and lots of water follows which is excreted in the poo

Question 8

Myasthenia Gravis

Answer 8

autoimmune disease targeting nACh receptors

profound weakness in skeletal muscles

Question 9

Osteoporosis

Answer 9

mineralised bone is decreased, not enough mechanical support

leads to weakened bones and increased fractures

Question 10

Osteogenesis Imperfecta

Answer 10

abnormal type 1 collagen
bones break easily and reform strangely
blue sclera

Question 11

Scurvy

Answer 11

vitamin C needed for prolyl hydroxylase enzyme
no hydroxylation of lysine and proline so a weaker triple helix
bleeding from gums

Question 12

Ehlers - Danlos Syndrome

Answer 12

abnormal collagen, CT has more elastic fibres

stretchy skin, double jointedness, hypermobility

Question 13

Ischaemia

Answer 13

Na/K ATPase doesnt work so Na accumulates in cells
deplarises the cell as the NCX stops working
Ca moves in which is toxic to the cell

Question 14

Type 2 Diabetes

Answer 14

give sulfonurea
binds and shuts K channel, insulin levels go back up
(wont work for T1 as they have no Beta cells)

Question 15

Multiple Sclerosis

Answer 15

affects all the myelination of the nerves in the CNS
vision problems
tingling numbness

Question 16

Neuro-cardiogenic Syncope

Answer 16

mild occasional falls and fainting spells

Question 17

Asthma

Answer 17

when the smooth muscle in the airways is oversensitive and contracts leading to decreased ability to get air
give a beta 2 adrenoceptor agonist
salbutamol/salmeterol

Question 18

Osteoarthritis

Answer 18

degeneration and mechanical failure of articular cartilage, narrowing of joint space
bone rubs on bone
crepitus

Question 19

Rheumatoid Arthritis

Answer 19

autoimmune inflammation of the synovial joint, inflammation of joint capsule, bone and cartilage disintegrate

Question 20

Pneumothorax

Answer 20

air in the pleural cavity

Question 21

Haemothorax

Answer 21

blood in the pleural cavity

Question 22

Empyema

Answer 22

pus in the pleural cavity

Question 23

Pleural effusion

Answer 23

fluid in the pleural cavity

Question 24

Emphysema

Answer 24

destruction of the alveoli walls leads to enlarges air spaces
air trapped leading to a barrel chest
loss of elastin mean lungs dont recoil

Question 25

Pneumonia

Answer 25

inflammation of the lungs caused by bacteria alveoli can fill with fluid, bacteria or inflammatory cells can lead to sepsis (often caused by streptococcus pneumoniae)

Question 26

Pancoast Tumour

Answer 26

in the apex of the lung | can impinge on nerves causing Horner's syndrome

Question 27

Situs Inversus

Answer 27

all organs on the opposite side of the body | not a problem if the reverse is complete but if only some do then problems arise

Question 28

Haemophilia

Answer 28

missing factor VIII, cant clot, longer clotting time and bleeding time

Question 29

Warfarin

Answer 29

inhibits the enzyme which oxidises vit K inhibiting a gla domain formation, effectively reduces production of clotting factors

Question 30

CO Poisoning

Answer 30

CO binds to haemoglobin very tightly and affects further oxygens from binding too

Question 31

Sickle Cell Anaemia

Answer 31

glutamine -> valine (hydrophobic) the hydrophobic parts stick together and form a sickle shape in low o2 situations

Question 32

Thalassaemia

Answer 32

imbalance of alpha and beta chains leading to anaemia

Question 33

Marasmus

Answer 33

energy malnutrition, emaciated, muscle wasting, no oedema

Question 34

Kwashiorkor

Answer 34

low protein diet, lethargic emaciated, generalised pitting oedema distended abdomen, hepa

Question 35

Low Serum Albumin

Answer 35

can decrease plasma oncotic pressure | leads to oedema

Question 36

Galactosaemia

Answer 36

missing one of three enzymes cant break down galactose renal failure, hepatomegaly cataracts and hypoglycaemia