Clinical Conditions Flashcards

1
Q

Amyloidosis

A

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

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2
Q

Sickle Cell Anaemia

A

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

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3
Q

Cystic Fibrosis

A

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

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4
Q

Gout

A

sodium urate crystals

usually in the big toe and comes on suddenly

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5
Q

Psoriasis

A

long-term auto immune condition

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

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6
Q

Cystic Fibrosis

A

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

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7
Q

Diarrhoea

A

lots of chloride ions move out

and lots of water follows which is excreted in the poo

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8
Q

Myasthenia Gravis

A

autoimmune disease targeting nACh receptors

profound weakness in skeletal muscles

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9
Q

Osteoporosis

A

mineralised bone is decreased, not enough mechanical support

leads to weakened bones and increased fractures

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10
Q

Osteogenesis Imperfecta

A

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

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11
Q

Scurvy

A

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

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12
Q

Ehlers - Danlos Syndrome

A

abnormal collagen, CT has more elastic fibres

stretchy skin, double jointedness, hypermobility

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13
Q

Ischaemia

A

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

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14
Q

Type 2 Diabetes

A

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

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15
Q

Multiple Sclerosis

A

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

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16
Q

Neuro-cardiogenic Syncope

A

mild occasional falls and fainting spells

17
Q

Asthma

A

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

18
Q

Osteoarthritis

A

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

19
Q

Rheumatoid Arthritis

A

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

20
Q

Pneumothorax

A

air in the pleural cavity

21
Q

Haemothorax

A

blood in the pleural cavity

22
Q

Empyema

A

pus in the pleural cavity

23
Q

Pleural effusion

A

fluid in the pleural cavity

24
Q

Emphysema

A

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

25
Q

Pneumonia

A

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)

26
Q

Pancoast Tumour

A

in the apex of the lung

can impinge on nerves causing Horner’s syndrome

27
Q

Situs Inversus

A

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

28
Q

Haemophilia

A

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

29
Q

Warfarin

A

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

30
Q

CO Poisoning

A

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

31
Q

Sickle Cell Anaemia

A

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

32
Q

Thalassaemia

A

imbalance of alpha and beta chains leading to anaemia

33
Q

Marasmus

A

energy malnutrition, emaciated, muscle wasting, no oedema

34
Q

Kwashiorkor

A

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

35
Q

Low Serum Albumin

A

can decrease plasma oncotic pressure

leads to oedema

36
Q

Galactosaemia

A

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