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Clinical Conditions > Semester 1 > Flashcards

Semester 1 Flashcards

1
Q

what is achondroplasia

A

dwarfism due to decreased endochondral ossification

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2
Q

what inheritance pattern does achondroplasia have

A

autosomal dominant

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3
Q

what is amyloidosis

A

a build up of amyloid fibres

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4
Q

what are amyloid fibres

A

proteins that have been misfolded and are now insoluble

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5
Q

what could amyloidosis cause

A

dementia/Alzheimer’s

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6
Q

what is botulism

A

when botulinum toxin blocks acetyl choline release so there’s no muscle contraction

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7
Q

what gene is mutated in cystic fibrosis

A

cystic fibrosis transmembrane regulator gene

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8
Q

what does cystic fibrosis cause

A

the CFTR no longer to be inserted into the membrane so chloride ions can’t be transported out

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9
Q

what is the affect of mucus in cystic fibrosis

A

it becomes more viscous as it contains less water

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10
Q

what body systems are affected by cystic fibrosis

A

reproductive, respiratory, sweat and digestive

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11
Q

what inheritance pattern is cystic fibrosis

A

autosomal recessive

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12
Q

how is the pancreas affected in cystic fibrosis

A

mucus blocks the pancreatic duct so digestive enzymes cant reach the stomach

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13
Q

how is sweat affected by cystic fibrosis

A

it is more salty

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14
Q

how is the vas deferens affected by cystic fibrosis

A

it doesn’t develop and so blocks the passage of sperm

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15
Q

how is cystic fibrosis managed

A

by treating symptoms e.g taking lipase tablets too digest fats

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16
Q

why do cystic fibrosis sufferers often suffer from lung infections

A

viscous mucus traps lots of bacteria which builds up in the lungs

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17
Q

what is downs syndrome

A

trisomy 21

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18
Q

how can trisomy occur

A

meiotic division error or robertsonian translocation

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19
Q

what are the features of downs syndrome

A

impaired intelligence, higher risk of Alzheimer’s and leukaemia and characteristic facial features

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20
Q

what is eczema

A

itchy, dry, scaly skin

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21
Q

what is Edwards syndrome

A

trisomy 18

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22
Q

what are the features of Edwards syndrome

A

rocker bottom feet, overlapping fingers and small lower jaw

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23
Q

what is ehlers danlos syndrome

A

type III collagen deficiency so there’s a higher proportion of elastic fibres in CT

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24
Q

what are the features of Ehlers Danlos

A

stretchy skin, unstable joints and easily bruised

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25
Q

what is gout

A

too much uric acid in the blood which precipitates into monosodium urate crystals

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26
Q

where does gout most commonly affect

A

big toe

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27
Q

what is used to treat gout

A

non-steroid anti-inflammatory drugs

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28
Q

what is Klinefelter’s syndrome

A

when males have XXY

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29
Q

what are the features of Klinefelter’s syndrome

A

smaller testes, less testosterone, infertility

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30
Q

how is marfans syndrome caused

A

mutation in the gene that produces fibrillin resulting in more elastic fibres

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31
Q

what inheritance pattern does marfans syndrome have

A

autosomal dominant

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32
Q

what features are associated with marfans syndrome

A

long limbs and digits (arachnodactyly), high arched palate and tall and aortic dissection

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33
Q

why is aortic dissection associated with marfans

A

the increase in elasticity of the aorta makes it weaker as it stretches more so can rupture

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34
Q

what is multiple sclerosis

A

an autoimmune disease that causes the break down of myelin sheath

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35
Q

what is the result of multiple sclerosis

A

decrease in conduction of impulses giving a loss of function

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36
Q

what is Myasthenia Gravis

A

autoimmune disease which causes the destruction of nAChR

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37
Q

What are the symptoms of Myasthenia Gravis

A

droopy eyes, fatigue and fainting

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38
Q

what can be used to treat Myasthenia Gravis

A

acetyl choline esterase inhibitors

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39
Q

what is osteogensis imperfecta

A

abnormal type I collagen

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40
Q

what are the symptoms of osteogenesis imperfecta

A

repeated fractures, blue sclera

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41
Q

what inheritance pattern is osteogenesis imperfect

A

autosomal dominant

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42
Q

where do pseudogout affect

A

knee joint

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43
Q

what is psoriasis

A

hyper proliferation of keratinocytes

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44
Q

how does psoriasis present

A

red, scaly plaques

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45
Q

how do you treat psoriasis

A

steroids

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46
Q

what is Patau’s syndrome

A

trisomy 13

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47
Q

what features are associated with Patau’s syndrome

A

heart defects, cleft lip

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48
Q

what does rickets result from

A

vitamin D deficiency

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49
Q

what is the result of a vitamin d deficiency

A

less calcium reabsorbed by small bowel making less rigid bones

50
Q

what race is rickets more prevalent in

A

dark skinned races

51
Q

what cause scurvy

A

vitamin c deficiency

52
Q

what is vitamin c needed for

A

proplyl hydroxylase enzyme which convert proline to hydroxyproline

53
Q

what does a lack of vitamin c cause

A

less hydrogen bonds in the collagen chains, so there’s weaker cross links and so a weaker collagen molecule

54
Q

what features are associated with a vitamin c deficiency

A

poor wound healing and bone formation

55
Q

what inheritance pattern does sickle cell anaemia show

A

autosomal recessive

56
Q

what mutation occur in sickle cell anaemia

A

point mutation substituting A to T resulting in the production of valine instead of glutamate

57
Q

why is the change in amino acid bad in sickle cell

A

as a hydrophobic aa is now produced

58
Q

what happens to the shape of RBC in sickle cell anaemia

A

the beta chains join together in the T state to form sickle shaped cells

59
Q

what do sickle shaped cells result in

A

blockage of vessels and therefore causes ischaemia

60
Q

what is a thalassaemia

A

a decrease or absence of one type of haemoglobin chain

61
Q

what type of haemoglobin may be in a higher proportion in beta thalassemia’s

A

fetal

62
Q

what is turners syndrome

A

monosomy X

63
Q

what are the features of turners syndrome

A

short statue, heart defects, learning disabilities and infertility

64
Q

what is vitiligo

A

autoimmune disease causing the destruction of melanocytes giving loss of pigmentation

65
Q

what is asthma

A

inflammatory disorder of the lungs

66
Q

what are the symptoms of asthma

A

difficulty breathing, chest tightness, coughing, wheezing

67
Q

which cells accumulate in the smooth muscle fibres in asthma

A

eosinophils which cause narrowing of the airways

68
Q

stimulation of which receptors cause bronchodilation

A

beta 2 agonists

69
Q

give 2 examples of beta 2 agonists

A

salbutamol and salmeterol

70
Q

what drugs can be used to relieve asthma

A

bronchodilators and ant-inflammatory drugs

71
Q

what blood pressure classes as hypertension

A

140/90 mmHg

72
Q

what does the RAAS system do to blood pressure

A

increases it

73
Q

outline the RAAS system

A

renin converts angiotensinogen into angiotensin I. ACE then converts angiotensin I to Angiotensin II, which releases aldosterone from adrenal gland

74
Q

what does aldosterone do

A

cause water and salt retention in the kidneys

75
Q

what 5 types of drugs help to reduce hypertension

A

beta blockers, alpha blocker, calcium channel blockers, ACE inhibitors, diuretics

76
Q

what does ACE stand for

A

angiotensin converting enzyme

77
Q

how do diuretics reduce hypertension

A

increasing sodium and water loss from the kidneys

78
Q

what do alpha blockers cause

A

vasodilation

79
Q

how does stimulation of beta 1 receptors increase blood pressure

A

cause positive inotropy and tachycardia

80
Q

how do alpha 1 and beta 2 receptors cause an increase in blood pressure

A

cause airways to contract

81
Q

what is hyperthyroidism

A

increased amount of the thyroid hormones T3 and T4 in the blood

82
Q

what is Zellweger syndrome

A

absence of peroxisomes

83
Q

what is I cell disease

A

deficiency in the kinase enzyme which phosphorylates mannose group of proteins destined for lysosomes

84
Q

how do lysosomes appear in I-cell disease

A

bloated as they don’t contain enzymes to break down their content

85
Q

what is Horner’s syndrome

A

when a pancoast tumour impinges on the sympathetic trunk

86
Q

what are the symptoms of horner’s syndrome

A

droopy, weak upper eye lid and constriction of the pupil

87
Q

what is haemophilia

A

mutation in the cofactor factor VIII so blood cant clot as well

88
Q

what is the inheritance pattern of haemophilia

A

x linked recessive

89
Q

what medication should be avoided in haemophilia

A

blood thinners

90
Q

what is oedema

A

build-up of fluid in the body

91
Q

what causes oedema

A

heart failure, hypertension, increased permeability of blood vessels

92
Q

is oedema pitting

A

yes as it take time for the water to return

93
Q

when is oedema worse

A

when lying down

94
Q

what can cause lymphadenopathy

A

cancer

95
Q

what is lymphadenopathy

A

when lymph nodes enlarge during an immune response due to production of lots of lymphocytes in germinal centres

96
Q

what is lymph oedema

A

accumulation of lymph fluid

97
Q

what causes lymphedema

A

removal of lymph nodes, blockage or removal of lymphatic vessels

98
Q

does lymphoedema pit

A

no as the high protein content makes it tough

99
Q

what is emphysema

A

destruction of the alveoli walls giving enlarged air spaces

100
Q

why is barrelled chest a symptom of emphysema

A

the loss of elastin means the lungs wont recoil

101
Q

what happens to the bronchioles during emphysema

A

collapse as they’re not being held open by alveoli walls

102
Q

what is pneumonia

A

inflammation of the lungs due to bacteria

103
Q

what is cellulitis

A

infection of the skin

104
Q

what 2 conditions is COPD primarily composed of

A

chronic bronchitis and emphysema

105
Q

what is a cause of chirrhosis

A

when stellate cells lose their ability to store vit A and become myofibroblasts and lay down collagen in sinusoids

106
Q

What inheritance pattern does xeroderma pigmentosum show?

A

Autosomal recessive

107
Q

What are people with xeroderma pigmentosum more at risk of?

A

Skin cancer as they get sun burnt much more easier

108
Q

Mutations in what gene causes xeroderma pigmentosum

A

POLH gene

109
Q

What do mutations in the POLH gene cause?

A

Faulty DNA repair as nucleotide base excision cannot be performed

110
Q

What is the difference between rickets and osteomalacia k

A

Rickets is in children and osteomalacia is in adults

111
Q

How many types of osteoporosis are there?

A

2

112
Q

What is type 1 osteoporosis

A

Bone resorption in post menopausal women

113
Q

What is type 2 osteoporosis

A

Bone resorption in the elderly

114
Q

What are the 2 types of type 2 osteoporosis

A

Increased osteoclasts activity or decreased osteoblast activity

115
Q

What causes jaundice

A

Too much bilirubin

116
Q

What is thyrotoxicosis

A

When you have excessive thyroid hormones

117
Q

What is another name for thyrotoxicosis

A

Hyperthyroidism

118
Q

What is propranolol a type of

A

Beta blocker

119
Q

How do you treat thyrotoxicosis

A

Beta blockers (treat heart rate) and radioactive iodine

120
Q

What is Duchene’s muscular dystrophy

A

A disease where there is Muscle breakdown and weakness

121
Q

What is haemochromatosis

A

A build up of iron levels in the body

122
Q

Why are there more disulphide bonds in collagen of people with osteogenesis imperfecta

A

As cytosine replaces glycine

Clinical Conditions (2 decks)

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