Phase 1 ILAs Flashcards

1
Q

What does SNP stand for? (genetics)

A

Single nucleotide polymorphism

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2
Q

What is a SNP?

A

DNA sequence variation when a single nucleotide differs between people

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3
Q

What affect can SNPs have?

A

Can change codon, which can change protein, can create disease e.g. sickle cell/cystic fibrosis

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4
Q

What is primary protein structure?

A

Chain of amino acids joined by covalent bonds

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5
Q

What is secondary protein structure?

A

Alpha helices, beta pleated sheets, H+ bonds

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6
Q

What is tertiary protein structure?

A

3D structure of an a.a. chain, can have VdW, H+ bonds, ionic, disulfide bridges, electrostatic attraction

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7
Q

What is quaternary protein structure?

A

Several a.a. chains joined together-3D structure of a polypeptide

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8
Q

What are the subunits of haemoglobin?

A

2 alpha, 2 beta

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9
Q

Normal adult haemoglobin is HbA, what does it change to in sickle cell anaemia?

A

HbS

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10
Q

What codon change happens in sickle cell + on what nucleotide?

A

GAG to GTG on 17th nucleotide

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11
Q

Is sickle cell dominant or recessive?

A

Autosomal recessive

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12
Q

If one, or both parents have sickle cell, what is the chance their offspring will also have the condition?

A

2 parents-1/4 chance offspring has sickle cell
1 parent-50/50 chance of offspring being carrier

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13
Q

Name 4 functional changes for someone living with sickle cell

A

Lower O2 affinity
Shorter erythrocyte lifetime
Erythrocytes can get stuck in blood vessels
Reduced delivery of O2 to muscles

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14
Q

What is the first stage of protein synthesis?

A

Transcription

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15
Q

What happens in transcription?

A
  1. DNA supercoil unwound by topoisomerase
  2. DNA helicase breaks H+ bonds + exposes nucleotides
  3. Single stranded binding proteins stop DNA strands reannealing
  4. RNA polymerase binds at TATA promoter region, moves in a 3’ to 5’ direction
  5. RNA polymerase adds nucleotides until stop codon is reached-producing mRNA strand
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16
Q

What happens in splicing?

A

Introns are removed

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17
Q

What are introns?

A

Non-coding DNA segments

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18
Q

What happens in translation?

A
  1. mRNA binds to ribosome
  2. tRNA, carrying an amino acid, binds to ribosome
  3. tRNA anticodon binds to complementary mRNA
  4. Peptide bond forms between adjacent amino acids
  5. Polypeptide chain is formed when stop codon is reached
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19
Q

What are the 3 stages of translation?

A

Initiation, elongation, termination

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20
Q

Where are osmoreceptors located?

A

Hypothalamus

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21
Q

What do osmoreceptors do?

A

Detect low blood water potential, causing stimulation of hypothalamus nerve cells + triggering the release of ADH from the pituitary

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22
Q

What does ADH act on + what does it do?

A

Acts on kidneys + increases fluid retention

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23
Q

Where is albumin produced?

A

Liver

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24
Q

How does albumin contribute to oncotic pressure?

A

Helps maintain concentration gradient + create oncotic pressure

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25
Q

What is insensible water loss?

A

Total amount of fluid lost daily from the lungs, skin, respiratory tract + faeces-40-800 ml in an adult

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26
Q

What does insufficient H2O in the body do to blood volume?

A

Decreases blood volume

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27
Q

What does insufficient H2O in the body do to blood osmolality?

A

Increases blood osmolality

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28
Q

What is the pathway for response to dehydration?

A
  1. Insufficient H2O in blood causes decrease in blood volume
  2. Decreases blood pressure
  3. Increases angiotensin II
  4. Stimulates thirst centre in hypothalamus
  5. Increases thirst
  6. H2O taken in
  7. Blood osmalality decreases
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29
Q

In an average 70kg male what is the total body water?

A

42L-60% of body weight

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30
Q

In an average 70kg male what is the ratio of ICF to ECF?

A

65:35, 28L:14L

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31
Q

In an average 70kg male how much interstitial fluid is there?

A

11L

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32
Q

In an average 70kg male how much plasma fluid is there?

A

3L

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33
Q

How is sodium contained in the body?

A

70%=exchangeable
30%=stored in bone crystal
ECF contains 50%, ICF contains 5%

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34
Q

What reaction does renin catalyse?

A

Angiotensinogen–>Angiotensin I

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35
Q

Which enzyme catalyses the reaction from angiotensin I to angiotensin II?

A

ACE

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36
Q

What does angiotensin cause?

A

Thirst
Vasoconstriction
Na+ reabsorption

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37
Q

What does aldosterone cause?

A

Na+ reabsorption
K+ excretion
Water retention

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38
Q

What activates renin?

A

Low blood pressure

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39
Q

What inhibits renin?

A

Angiotensin II
Vasopressin
ANF (atrial natriuretic factor)

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40
Q

How do you calculate cardiac output?

A

CO=HR x SV

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41
Q

What factors affect heart rate?

A

Autonomic innervation
Hormones
Fitness levels
Age

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42
Q

How do you calculate stroke volume?

A

SV= EDV (end diastolic volume) - ESV (end systolic volume)

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43
Q

What factors affect stroke volume?

A

Contractility
Preload
Afterload
Heart size
Fitness level
Gender
Duration of contraction

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44
Q

Define preload

A

Degree of myocardial distension prior to shortening

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45
Q

Define afterload

A

Force against which ventricles must act in order to eject blood

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46
Q

What areas does the LAD supply?

A

Anterior 2/3 of interventricular septum
Lateral wall of left ventricles
Anterolateral papillary muscle

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47
Q

What can occlusion of LAD cause?

A

Left/right heart block-when the impulse contraction between atria + ventricles is blocked

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48
Q

What areas does the RCA supply?

A

SAN + AVN

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49
Q

What can occlusion of the RCA cause?

A

Affects nodes, irregular rhythm of contraction, inefficient blood flow + potential backflow

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50
Q

How do you calculate blood pressure?

A

BP=CO x TPR (total peripheral resistance-amount of force exerted on circulating blood by the vasculature of the body)

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51
Q

What affects blood pressure?

A

Vasopressin, Aldosterone, ANP, Haemorrhage, Sweating, Stressors, Hydration, Weight, Muscular activity, Posture

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52
Q

How do you calculate pulse pressure?

A

PP=SP (systolic pressure) - DP (diastolic pressure)

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53
Q

How do you calculate mean arterial pressure?

A

MAP=DP (diastolic pressure) + 1/3PP (pulse pressure)

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54
Q

What does the Frank-Starling relationship show?

A

The effects of heart failure on stroke volume + ventricular preload

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55
Q

What causes the ‘lub’ sound?

A

Closing of AV valve

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56
Q

What causes the ‘dub’ sound?

A

Closing of the semilunar valves

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57
Q

Where is the greatest resistance to flow in the airways?

A

Segmental bronchi

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58
Q

How do the pleural layers contribute to ventilation?

A
  1. Respiratory muscles expand cavity which creates negative pressure in pleural cavity
  2. Visceral pleura pulls on the lungs + decreases the pressure
  3. Air rushes into the lungs to equalise the pressure = inspiration
  4. Expiration-the intrathoracic pressure increases, forcing the air out
59
Q

What is the function of saliva?

A

Releases enzymes, antibacterial, pH control, taste, lubrication

60
Q

What does the palate do?

A

Tongue presses food against it to aid in digestion

61
Q

What nerves supply the oesophagus?

A

Upper 1/3 is supplied by the superior laryngeal + recurrent laryngeal nerve
Lower 2/3 is supplied by the enteric nervous system

62
Q

What is a common cause of GORD?

A

Weak oesophageal sphincter-means less pressure is required for fluid to move back up, can be dependent on body position

63
Q

What do mucous cells produce?

A

HCO3- + mucous-acts as a protective lining + buffer against HCl

64
Q

What hormone’s release is triggered by food in the stomach?

A

Gastrin

65
Q

Name the 9 regions of the abdomen

A

Right hypochondriac, epigastric, left hypochondriac, right lumbar, umbilicus, left lumbar, right iliac, suprapubic, left iliac

66
Q

What is haematopoiesis?

A

The formation of blood cellular components

67
Q

Where are erythrocytes produced?

A

Haemopoietic bone marrow

68
Q

What are reticulocytes?

A

Immature RBC

69
Q

How long do erythrocytes circulate in the blood for?

A

120 days

70
Q

Where are old erythrocytes phagocytosed?

A

Bone marrow, liver + spleen

71
Q

What happens to the haem part of haemoglobin when it is broken down?

A

Broken into biliverdin for transport in blood. Iron ions bind to blood protein transferrin for transport. Unused haem groups can be used for haempoeisis or converted into bilirubin + used to make bile. Iron ions can be transferred into ferritin for storage in liver

72
Q

What happens to the globin part of haemoglobin when it is broken down?

A

Metabolised into a.a. + reused for protein synthesis

73
Q

What are the 3 classes of jaundice?

A

Pre-hepatic, hepatic + obstructive

74
Q

What is pre-hepatic jaundice, what kind of bilirubin does it produce?

A

When there is excessive RBC breakdown which overwhelms the livers ability to conjugate bilirubin. Produces unconjugated bilirubin

75
Q

What is hepatic jaundice, what kind of bilirubin does it produce?

A

Dysfunction of the hepatic cells causes the liver to lose the ability to conjugate bilirubin. Produces both conjugated + unconjugated bilirubin

76
Q

What is post-hepatic jaundice, what kind of bilirubin does it produce?

A

Occurs when there is an obstruction of biliary drainage so bile can’t be excreted. Bile is conjugated though as the issue is with removal, not conjugation.

77
Q

What causes pre-hepatic jaundice?

A

Haemoglobinopathies, abnormal RBC, antibodies, drugs + toxins, thalassaemia

78
Q

What causes hepatic jaundice?

A

Hepatitis, Gilbert’s syndrome, Crigler-Najjar syndrome

79
Q

What causes post-hepatic jaundice?

A

Gallstones, bile duct tumours, pancreatic/ampulla carcinomas

80
Q

What region of the brain is supplied by the anterior cerebral artery?

A

Corpus callosum, medial region

81
Q

What region of the brain is supplied by the middle cerebral artery?

A

Lateral parts of each hemisphere + anterior deep structures

82
Q

What region of the brain is supplied by the posterior cerebral artery?

A

Posterior region + posterior inferior

83
Q

What does the frontal lobe do?

A

Contains motor cortices + association areas, prefrontal association area (controls behaviour + decision-making) + Broca’s area

84
Q

Where is Broca’s area located + what does it do?

A

Left frontal lobe, controls fluent speech

85
Q

What does the temporal lobe do?

A

Contains auditory cortices, associated with long term memory + emotion + contains Wernicke’s area

86
Q

What does the temporal lobe do?

A

Contains auditory cortices, associated with long term memory + emotion + contains Wernicke’s area

87
Q

Where is Wernicke’s area located + what does it do?

A

Located close to auditory cortex, in the posterior 2/3 of the temporal lobe, associated with understanding speech + written language

88
Q

How many peduncles does the cerebellum have?

A

3

89
Q

What does the cerebellum do?

A

Helps maintain posture + balance, receives info from vestibulocochlear organs

90
Q

What does the brainstem consist of?

A

Pons, medulla, midbrain

91
Q

What can the midbrain be divided into?

A

Tectum + tegmentum

92
Q

What are the red nuclei?

A

Structure in the tegmentum associated with motor function

93
Q

Why is the red nuclei red?

A

Contains iron in 2 forms: haemoglobin + ferritin

94
Q

What is the substantia nigra + what condition is associated with its degeneration?

A

Tegmentum structure important for the production of dopamine. Its degeneration is associated with Parkinson’s

95
Q

What functions are controlled by the pons?

A

Breathing, sleeping, swallowing, bladder control

96
Q

What functions are controlled by the medulla?

A

Autonomic regulation-heart rate, breathing + blood pressure

97
Q

What are UMN?

A

Upper motor neurons-travel from motor cortex through internal capsule + pyramidal tracts to spinal cord

98
Q

What are LMN?

A

Lower motor neurons-neurons that exit the spinal cord to innervate muscles

99
Q

What are signs of UMN damage?

A

If injury/lesion is above medulla, then damage will be mainly contralateral, if below then ipsi
Spasticity + stiffness-can develop over time
Abnormal increased reflexes e.g. Babinski’s

100
Q

What are signs of LMN damage?

A

Muscle weakness + atrophy
Loss of reflexes

101
Q

The motor/descending/efferent pathways can be divided into what 2 classes of tracts?

A

Pyramidal + extrapyramidal

102
Q

Name the 2 pyramidal tracts + the difference between them. Do they decussate?

A

Corticospinal-anterior + lateral (descends to spinal cord + supplies rest of body) + corticobulbar (terminates in brainstem as supplies head + neck). Lateral corticospinal decussates in pyramid of medulla, anterior corticospinal stays ipsilateral

103
Q

Name the 4 extrapyramidal tracts + whether they decussate or not

A

Reticulospinal-no
Vestibulospinal-no
Rubrospinal-yes
Tectospinal-yes

104
Q

What do the corticospinal tracts control?

A

Conduct motor impulses

105
Q

What are the reticulospinal tracts associated with?

A

Voluntary muscle + muscle tone

106
Q

What are the vestibulospinal tracts associated with?

A

Anti-gravity muscles

107
Q

What are the rubrospinal tracts associated with?

A

Upper limb flexion

108
Q

What are the tectospinal tracts associated with?

A

Reflexive localisation of auditory + visual stimuli

109
Q

Name the 3 ascending tracts + whether they decussate

A

DCML-yes, spinothalamic-yes, spinocerebellar-no

110
Q

Describe the action of the knee jerk/patellar reflex

A
  1. Patella tendon is tapped, causing it to stretch
  2. Muscle spindle in quadriceps detects stretching + carries sensory info to spinal cord
  3. Motor neurons cause immediate contraction of quadriceps muscle
  4. Sensory neurons also stimulate interneurons that inhibit activity of motor neurons that supply opposing muscle-hamstring
    means action of quadriceps is unopposed
    Extensor muscle contracts + flexor muscle relaxes=knee jerk
111
Q

What do sensory receptors do?

A

Respond to stimuli

112
Q

What are sub-modalities?

A

Variations within a stimulus e.g. pitch + volume within auditory stimuli

113
Q

What can the autonomic nervous system be divided into?

A

Sympathetic + parasympathetic

114
Q

Name the neurotransmitter released at the effector by the somatic nervous system

A

Acetylcholine

115
Q

Name the neurotransmitter released at the effector by the somatic nervous system

A

Acetylcholine + Noradrenaline

116
Q

What are the differences between somatic + autonomic neurons?

A

Somatic-single neuron from CNS to effector
-heavily myelinated axons
Autonomic-2 neurons from CNS to effector
-lightly myelinated pre-ganglionic axon + unmyelinated postganglionic axon

117
Q

What is the normal resting potential?

A

-70mV

118
Q

What is the threshold for an action potential to be fired?

A

Cell has to depolarise to -55mV

119
Q

At what potential do sodium channels close + potassium channels open during an action potential?

A

30mV

120
Q

What is an absolute refractory period?

A

After an action potential, when it is impossible for another action potential to fire

121
Q

What is a relative refractory period?

A

After the absolute refractory period, when an action potential can be triggered if the stimulus is large enough

122
Q

What is Brown-Sequard syndrome?

A

An incomplete spinal cord lesion, characterised by weakness on one side + loss of sensation on the opposite side

123
Q

What are tonic receptors?

A

Slow adapting receptors

124
Q

What are phasic receptors?

A

Rapid adapting receptors

125
Q

What are Merkel’s discs?

A

Tonic receptors that respond to pressure

126
Q

What are Meissner’s corpuscles?

A

Phasic receptors, in the dermis of the skin, enable fine touch

127
Q

What are Pacinian corpuscles?

A

Phasic receptors that respond to pressure changes + vibration

128
Q

Which kidney is normally lower + why?

A

Right, pushed down by liver

129
Q

What spinal level do the kidneys sit at?

A

T12-L3

130
Q

What are the ureteric walls made up of, why is this necessary?

A

Smooth muscle-to allow peristaltic waves

131
Q

What 3 sites does the ureter narrow at?

A

Pelvic brim
Where pelvis of kidney becomes ureter
Where ureter passes through the bladder

132
Q

What stops urine passing back up the ureter from the bladder?

A

Urine enters at an oblique angle, as bladder fills, it presses on part of the ureter in the bladder wall, stopping urine from backing up

133
Q

How long is the female urethra?

A

2 inches

134
Q

How long is the male urethra?

A

8-10 inches

135
Q

What are the types of nephron + what is the difference between them?

A

Cortical-tubules extend only a short distance into medulla + juxtamedullary-tubules extend deep into the medulla

136
Q

What is the renal corpuscle?

A

Part of the nephron where blood plasma is filtered

137
Q

What kind of epithelium lines the proximal convoluted tubules?

A

Cuboidal

138
Q

What kind of epithelium lines the loop of Henle?

A

Squamous

139
Q

What is the purpose of podocytes in the filtration barrier?

A

Podocytes are negatively charged so prevent passage of albumin

140
Q

Name 4 factors that determine glomerular filtration

A

Size of molecule
Pressure
Charge of molecule
Rate of blood flow

141
Q

What % of cardiac output does renal blood flow make up?

A

20%

142
Q

What is GFR (kidneys)?

A

Glomerular filtration rate

143
Q

Name 3 ways in which GFR is regulated

A

Renin-angiotensin system
Tubuloglomerular feedback
Autonomic vasoreactive reflex