Semester 1 Flashcards
(122 cards)
1
Q
what is achondroplasia
A
dwarfism due to decreased endochondral ossification
2
Q
what inheritance pattern does achondroplasia have
A
autosomal dominant
3
Q
what is amyloidosis
A
a build up of amyloid fibres
4
Q
what are amyloid fibres
A
proteins that have been misfolded and are now insoluble
5
Q
what could amyloidosis cause
A
dementia/Alzheimer’s
6
Q
what is botulism
A
when botulinum toxin blocks acetyl choline release so there’s no muscle contraction
7
Q
what gene is mutated in cystic fibrosis
A
cystic fibrosis transmembrane regulator gene
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
9
Q
what is the affect of mucus in cystic fibrosis
A
it becomes more viscous as it contains less water
10
Q
what body systems are affected by cystic fibrosis
A
reproductive, respiratory, sweat and digestive
11
Q
what inheritance pattern is cystic fibrosis
A
autosomal recessive
12
Q
how is the pancreas affected in cystic fibrosis
A
mucus blocks the pancreatic duct so digestive enzymes cant reach the stomach
13
Q
how is sweat affected by cystic fibrosis
A
it is more salty
14
Q
how is the vas deferens affected by cystic fibrosis
A
it doesn’t develop and so blocks the passage of sperm
15
Q
how is cystic fibrosis managed
A
by treating symptoms e.g taking lipase tablets too digest fats
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
17
Q
what is downs syndrome
A
trisomy 21
18
Q
how can trisomy occur
A
meiotic division error or robertsonian translocation
19
Q
what are the features of downs syndrome
A
impaired intelligence, higher risk of Alzheimer’s and leukaemia and characteristic facial features
20
Q
what is eczema
A
itchy, dry, scaly skin
21
Q
what is Edwards syndrome
A
trisomy 18
22
Q
what are the features of Edwards syndrome
A
rocker bottom feet, overlapping fingers and small lower jaw
23
Q
what is ehlers danlos syndrome
A
type III collagen deficiency so there’s a higher proportion of elastic fibres in CT
24
Q
what are the features of Ehlers Danlos
A
stretchy skin, unstable joints and easily bruised
25
what is gout
too much uric acid in the blood which precipitates into monosodium urate crystals
26
where does gout most commonly affect
big toe
27
what is used to treat gout
non-steroid anti-inflammatory drugs
28
what is Klinefelter's syndrome
when males have XXY
29
what are the features of Klinefelter's syndrome
smaller testes, less testosterone, infertility
30
how is marfans syndrome caused
mutation in the gene that produces fibrillin resulting in more elastic fibres
31
what inheritance pattern does marfans syndrome have
autosomal dominant
32
what features are associated with marfans syndrome
long limbs and digits (arachnodactyly), high arched palate and tall and aortic dissection
33
why is aortic dissection associated with marfans
the increase in elasticity of the aorta makes it weaker as it stretches more so can rupture
34
what is multiple sclerosis
an autoimmune disease that causes the break down of myelin sheath
35
what is the result of multiple sclerosis
decrease in conduction of impulses giving a loss of function
36
what is Myasthenia Gravis
autoimmune disease which causes the destruction of nAChR
37
What are the symptoms of Myasthenia Gravis
droopy eyes, fatigue and fainting
38
what can be used to treat Myasthenia Gravis
acetyl choline esterase inhibitors
39
what is osteogensis imperfecta
abnormal type I collagen
40
what are the symptoms of osteogenesis imperfecta
repeated fractures, blue sclera
41
what inheritance pattern is osteogenesis imperfect
autosomal dominant
42
where do pseudogout affect
knee joint
43
what is psoriasis
hyper proliferation of keratinocytes
44
how does psoriasis present
red, scaly plaques
45
how do you treat psoriasis
steroids
46
what is Patau's syndrome
trisomy 13
47
what features are associated with Patau's syndrome
heart defects, cleft lip
48
what does rickets result from
vitamin D deficiency
49
what is the result of a vitamin d deficiency
less calcium reabsorbed by small bowel making less rigid bones
50
what race is rickets more prevalent in
dark skinned races
51
what cause scurvy
vitamin c deficiency
52
what is vitamin c needed for
proplyl hydroxylase enzyme which convert proline to hydroxyproline
53
what does a lack of vitamin c cause
less hydrogen bonds in the collagen chains, so there's weaker cross links and so a weaker collagen molecule
54
what features are associated with a vitamin c deficiency
poor wound healing and bone formation
55
what inheritance pattern does sickle cell anaemia show
autosomal recessive
56
what mutation occur in sickle cell anaemia
point mutation substituting A to T resulting in the production of valine instead of glutamate
57
why is the change in amino acid bad in sickle cell
as a hydrophobic aa is now produced
58
what happens to the shape of RBC in sickle cell anaemia
the beta chains join together in the T state to form sickle shaped cells
59
what do sickle shaped cells result in
blockage of vessels and therefore causes ischaemia
60
what is a thalassaemia
a decrease or absence of one type of haemoglobin chain
61
what type of haemoglobin may be in a higher proportion in beta thalassemia's
fetal
62
what is turners syndrome
monosomy X
63
what are the features of turners syndrome
short statue, heart defects, learning disabilities and infertility
64
what is vitiligo
autoimmune disease causing the destruction of melanocytes giving loss of pigmentation
65
what is asthma
inflammatory disorder of the lungs
66
what are the symptoms of asthma
difficulty breathing, chest tightness, coughing, wheezing
67
which cells accumulate in the smooth muscle fibres in asthma
eosinophils which cause narrowing of the airways
68
stimulation of which receptors cause bronchodilation
beta 2 agonists
69
give 2 examples of beta 2 agonists
salbutamol and salmeterol
70
what drugs can be used to relieve asthma
bronchodilators and ant-inflammatory drugs
71
what blood pressure classes as hypertension
140/90 mmHg
72
what does the RAAS system do to blood pressure
increases it
73
outline the RAAS system
renin converts angiotensinogen into angiotensin I. ACE then converts angiotensin I to Angiotensin II, which releases aldosterone from adrenal gland
74
what does aldosterone do
cause water and salt retention in the kidneys
75
what 5 types of drugs help to reduce hypertension
beta blockers, alpha blocker, calcium channel blockers, ACE inhibitors, diuretics
76
what does ACE stand for
angiotensin converting enzyme
77
how do diuretics reduce hypertension
increasing sodium and water loss from the kidneys
78
what do alpha blockers cause
vasodilation
79
how does stimulation of beta 1 receptors increase blood pressure
cause positive inotropy and tachycardia
80
how do alpha 1 and beta 2 receptors cause an increase in blood pressure
cause airways to contract
81
what is hyperthyroidism
increased amount of the thyroid hormones T3 and T4 in the blood
82
what is Zellweger syndrome
absence of peroxisomes
83
what is I cell disease
deficiency in the kinase enzyme which phosphorylates mannose group of proteins destined for lysosomes
84
how do lysosomes appear in I-cell disease
bloated as they don't contain enzymes to break down their content
85
what is Horner's syndrome
when a pancoast tumour impinges on the sympathetic trunk
86
what are the symptoms of horner's syndrome
droopy, weak upper eye lid and constriction of the pupil
87
what is haemophilia
mutation in the cofactor factor VIII so blood cant clot as well
88
what is the inheritance pattern of haemophilia
x linked recessive
89
what medication should be avoided in haemophilia
blood thinners
90
what is oedema
build-up of fluid in the body
91
what causes oedema
heart failure, hypertension, increased permeability of blood vessels
92
is oedema pitting
yes as it take time for the water to return
93
when is oedema worse
when lying down
94
what can cause lymphadenopathy
cancer
95
what is lymphadenopathy
when lymph nodes enlarge during an immune response due to production of lots of lymphocytes in germinal centres
96
what is lymph oedema
accumulation of lymph fluid
97
what causes lymphedema
removal of lymph nodes, blockage or removal of lymphatic vessels
98
does lymphoedema pit
no as the high protein content makes it tough
99
what is emphysema
destruction of the alveoli walls giving enlarged air spaces
100
why is barrelled chest a symptom of emphysema
the loss of elastin means the lungs wont recoil
101
what happens to the bronchioles during emphysema
collapse as they're not being held open by alveoli walls
102
what is pneumonia
inflammation of the lungs due to bacteria
103
what is cellulitis
infection of the skin
104
what 2 conditions is COPD primarily composed of
chronic bronchitis and emphysema
105
what is a cause of chirrhosis
when stellate cells lose their ability to store vit A and become myofibroblasts and lay down collagen in sinusoids
106
What inheritance pattern does xeroderma pigmentosum show?
Autosomal recessive
107
What are people with xeroderma pigmentosum more at risk of?
Skin cancer as they get sun burnt much more easier
108
Mutations in what gene causes xeroderma pigmentosum
POLH gene
109
What do mutations in the POLH gene cause?
Faulty DNA repair as nucleotide base excision cannot be performed
110
What is the difference between rickets and osteomalacia k
Rickets is in children and osteomalacia is in adults
111
How many types of osteoporosis are there?
2
112
What is type 1 osteoporosis
Bone resorption in post menopausal women
113
What is type 2 osteoporosis
Bone resorption in the elderly
114
What are the 2 types of type 2 osteoporosis
Increased osteoclasts activity or decreased osteoblast activity
115
What causes jaundice
Too much bilirubin
116
What is thyrotoxicosis
When you have excessive thyroid hormones
117
What is another name for thyrotoxicosis
Hyperthyroidism
118
What is propranolol a type of
Beta blocker
119
How do you treat thyrotoxicosis
Beta blockers (treat heart rate) and radioactive iodine
120
What is Duchene's muscular dystrophy
A disease where there is Muscle breakdown and weakness
121
What is haemochromatosis
A build up of iron levels in the body
122
Why are there more disulphide bonds in collagen of people with osteogenesis imperfecta
As cytosine replaces glycine
