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CLASP > Sudden Death > Flashcards

Sudden Death Flashcards

1
Q
A

Splicing

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2
Q
A

premature stop codon in exon 2 of a gene

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3
Q
A

The variant is a deletion in the single base of the exon of a gene

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4
Q
A

It allows more efficient analysis of multiple genes

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5
Q
A

QT interval / square root of R-R interval

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6
Q
A

Torsades de pointes

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7
Q
A

put them on their back to go to sleep

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8
Q
A

QRS complexes last longer than 120ms

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9
Q
A

tachypneoic with resp rate of >22

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10
Q
A

atenolol

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11
Q

what is shock?

A

inadequate organ perfusion leading to inadequate oxygen delivery to tissues and eventually organ failure

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12
Q

what are the 3 main origins of shock?

A

the heart

the blood vessels

flow of blood

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13
Q

what are the 5 types of shock?

A

hypovolaemic

cardiogenic

septic

anaphylactic

neurogenic

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14
Q

distributive shock is an umberella term for

A

septic

anaphylactic

neurogenic

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15
Q

Explain hypovolaemic shock

A
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16
Q

explain cardiogenic shock

A
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17
Q

Explain septic shock

A
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18
Q

Explain anaphylactic shock

A
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19
Q

Explain neurogenic shock

A
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20
Q

what is the meaning of cardiac arrest?

A

it does not necessarily mean the heart has stopped beating: it means that cardiac output is not sufficient for a palpable carotid pulse

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21
Q

how does cpr work?

A

changes intra-thoracic pressure and creates a gradient for blood flow to continue

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22
Q

reversible causes of cardiac arrest

A

hypovolaemia, hypoxia, hypothermia, metabolic causes (especially hyperkalaemia), tension pneumothorax, cardiac tamponade, toxins and thrombus (pulmonary embolus, atherosclerotic plaque & amniotic fluid)

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23
Q

When do you defibrillate?

A

Ventricular Fibrillation and pulseless Ventricular Tachycardia

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24
Q

Treat shock

A

Fluid resus

Blood

Vasopressin – vasoconstrictor

Warming – give calcium, ffp (run out of coagulation factors)

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25
Q

what are the basics of the frank starling mechanism?

A

increasing the heart rate increases the stroke volume

the higher the stroke volume the higher the cardiac output

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26
Q

vasoconstriction causes what

A

increase in bp

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27
Q

how do you calculate oxygen delivery?

A

Oxygen delivery (D02) = cardiac output (CO) x arterial oxygen content (CaO2)

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28
Q

how can you increase oxygen delivery?

A

give haemoglobin

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29
Q

mechanism of anaphylactic shock

A

Allergen binds to IgE releasing inflammatory mediators allows capillaries to become leaky, dilatation of lungs giving patients a wheeze, and prostaglandins lead to myocardial depression

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30
Q

basic treatment of anaphylaxis

A

Give adrenaline and iv fluids immediately. This stops the vessels from being leaky

high flow oxygen

chlorphenamine

hydrocortisone

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31
Q

basic mechanism of cardiogenic shock

A

heart becomes tired so not pumping all of the blood. So blood sits in the heart. This leads to pulmonary oedema

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32
Q

when do you not give fluids

A

when someone is in hf or cardiogenic shock as you worsen pulmonary oedema

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33
Q

what drug can you give in cardiogenic shock?

A

vasopressors

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34
Q

define sepsis

A

vascular dilatation and reflex tachycardia as a response to systemic infection

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35
Q

what is septic shock?

A

a patient with sepsis whos bp drops significantly

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36
Q

what does vasopressin do?

A

causes vascular constriction improving oxygen delivery to tissues

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37
Q

we can estimate how bad sepsis is by using

A

QSOFA

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38
Q

React very promptly with a young person who is even only a tad

A

confused

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39
Q

how does neurogenic shock differ from the others?

A

low bp low hr

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40
Q

in neurogenic shock:

sympathetic NS is

parasympathetic NS is

A

sympathetic - cut

parasympathetic - slows hr down

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41
Q

only shock in vt and vfib if they

A

have a pulse

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42
Q

diagnose and treat cardiac tamponade

A

diagnose on echo; needle pericardiocentesis in heart to allow pressure to release or resuscitative thoracotomy

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43
Q

treat a thrombus

A

PCI or thrombolysis; if fibrinolytic therapy given continue CPR for up to 60-90min

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44
Q

treat tension pneumo

A

thoracostomy or needle compression in 2nd ICS to equalise the pressure; check tube position if intubated

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45
Q

treat hypoxia

A

oxygen

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46
Q

treat hypovolaemia

A

give fluids and control haemorrhage

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47
Q

treat hypothermia

A

active rewarming techniques and consider cardiopulmonary bypass

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48
Q

irreversible causes of cardiac arrest

A

decapitation; cryogenic freezing; thermally burned by a volcano (denature enzymes); paraquat poisoning (cellular toxin which prevents oxygen delivery in the mitochondria).

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49
Q

treat hypercalcaemia

A

Calcium resonium and calcium gluconate

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50
Q

what is clinical death?

A

the period of respiratory, circulatory and brain arrest during which initiation of resuscitation can lead to recovery with prearrest central nervous system function. Clinical death is a reversible state. The duration of clinical death depends on the length of time the cerebral cortex survives in the absence of circulation and respiration. Under normal temperature from clinical death to biologic death the period does not exceed 3-6min.

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51
Q

define sudden cardiac arrest

A

death resulting from an abrupt loss of heart function. In most victims if its treated in a few minutes with defibrillation the heart may be restored to an organised rhythm

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52
Q

define biologic death

A

sets in after clinical death and is an irreversible state of cellular destruction

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53
Q

in cpr give adrenaline

A

every 3-5mins

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54
Q

in cpr give amiodarone

A

every 5 mins

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55
Q

depth of compressions

A

5-6cm

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56
Q

what is recoil?

A

release all pressure without removing hands from chest

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57
Q

rate of cpr

A

100-120 (2 per second)

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58
Q

ratio of compressions to breaths

A

30:2

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59
Q

rate within breaths

A

2 within 10s

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60
Q

what is shockable?

A

VF (bizarre irregular chaotic) / pulseless VT (broad constant QRS with torsade de pointes)

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61
Q

what is non shockable?

A

PEA (activity but no pulse – adrenaline 1mg IV then every 3-5mins) / asystole (no QRS wavy straight line – give adrenaline 1mg iv then every 3-5 mins)

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62
Q

give adrenaline after

A

3rd shock

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63
Q

pr interval shows

A

AV nodal delay

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64
Q

how do you read a rhythm strip?

A
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65
Q

how do you calculate hr on ecg?

A

Count the number of large squares present within one R-R interval then divide 300 by this number to calculate the heart rate

If the rhythm is irregular – count the number of complexes on the rhythm strip and multiply by 6

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66
Q

how do you assess the heart rhythm?

A

The heart rhythm can be regular or irregular.

Irregular rhythms can be either:

· Regularly irregular (i.e. a recurrent pattern of irregularity)

· Irregularly irregular (i.e. completely disorganised)

Cardiac axis – look at leads I, II, and III

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67
Q

describe the normal cardiac axis

A
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68
Q

describe right axis deviation

A
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69
Q

describe left axis deviation

A
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70
Q

how do you analyse p wave and pr interval?

A

P waves – are they present?; is each followed by a qrs?; do they look normal; saw tooth/ flutter/ chaotic?

PR should be between 120-200ms (3-5 small squares) – prolonged would be >0.2s

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71
Q

what does the delta wave look like and what is it associated with?

A

wpw

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72
Q

how do you analyse the QRS?

A

narrow (<0.12s) or broad (>0.12s); small (as < 5mm in the limb leads or < 10 mm in the chest leads) or tall (imply ventricular hypertrophy); delta wave; pathological q wave (> 2mm in height and > 40ms in width).

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73
Q

st depression a sign of

A

ischaemia

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74
Q

tall t waves

A

hyperkalaemia

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75
Q
A

hyperkalaemia

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76
Q

treat AF

A

control rate with beta blocker and diltiazem

if heart failure consider digoxin or amiodarone

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77
Q

control atrial flutter with

A

beta blocker

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78
Q

which leads link to which arteries of the heart?

A
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79
Q

define sudden death

A

An event that is no traumatic non-violent unexpected and resulting in cardiac arrest within 6 hours of being completely healthy.

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80
Q

causes of sudden cardiac death

A

· Inherited arrhythmia syndrome

· Inherited cardiomyopathy

· Inherited multiple system diseases with CVS involvement

· Myotonic Dystrophy

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81
Q

what is a channelopathies?

A

arrhythmia related to ion channel imbalance

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82
Q

what are the main channelopathies?

A

— Congenital long qt

— Brugada syndrome

— Catecholaminergic polymorphic ventricular tachycardia

— Short qt syndrome

— Progressive familial conduction disease

— Familial AF

— Familial WPW

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83
Q

what are the most common inherited cardiac conditions?

A

o Familial Arrhythmia Syndromes

§ Structurally sound hearts but risk of malignant ventricular arrhythmia and sudden arrhythmic death

§ Associated with ECG abnormalities

§ E.g. Long QT Syndrome

o Cardiomyopathies

§ E.g. Hypertrophic Cardiomyopathy

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84
Q

how do you screen family of a relative who has died of a sudden cardiac death under 40yo?

A

cascade screening

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85
Q

what type of inheritance is familial hypercholesterolaemia?

A

multifactorial

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86
Q

mutations associated with familial hypercholesterolaemia

A

in LDLR, APOB or PCSK9

87
Q

what is a cardiomyopathy and what are the main types?

A

arrhythmia related to scar/ electrical barrier formation and subsequent re entry

— Hypertrophic cardiomyopathy

— Arrhythmogenic right ventricular cardiomyopathy

Dilated cardiomyopathy

88
Q

what are after depolarisations?

A

After depolarisations are abnormal depolarisation of cardiac myocytes that interrupt phase 2, 3 or 4 of the cardiac AP in the cardiac conduction system of the heart. After depolarisation ca lead to triggered activity seen as sustained cardiac arrhythmia (All cells doing other things).

89
Q

what are early after depolarisations?

A

Early after depolarisations occur with abnormal depolarisation during phase 2 or phase 3, and are caused by an increase in the frequency of abortive action potentials before normal repolarisation is completed.Phase 2 may be interrupted due to augmented opening of calcium channels, while phase 3 interruptions are due to the opening of sodium channels.Early after depolarisations can result in torsades de pointes.EADs can be potentiated by hypokalaemia and drugs that prolong the ST interval, including class Ia and III antiarrhythmic drugs.

90
Q

what do early after depolarisations look like?

A
91
Q

what are delayed after depolarisations?

A

Delayed after depolarisations occur in late phase 3 or early phase 4 when the action potential is nearly or fully repolarized. The mechanism is poorly understood; however, this type of arrhythmia is found to be associated with high intracellular Ca++ concentrations as occurs with digitalis toxicity or excessive catecholamine stimulation. The triggered impulse can lead to a series of rapid depolarizations (i.e., a tachyarrhythmia).

92
Q

what do delayed after depolarisations look like?

A
93
Q

torsades de pointes associated with

A

long qt

94
Q

describe congenital long qt syndrome

A

Common. Polymorphic VT (torsades de pointes – constant change in depolarisatioon some high some low points on ecg) triggered by adrenergic stimulation (so caused by adrenaline). Associated with syncope or sudden cardiac death. Risk associated with severity of qt prolongation.

13 subtypes od LQTS.

95
Q

treat long qt

A

beta blockers and ICD

96
Q

Isolated LQT

A

romano ward syndrome (autosomal dominant)

97
Q

Deafness and long qt

A

jervell and lange Nielsen syndrome (autosomal recessive)

98
Q

diagnose long qt

A

Diagnosis – QT>480ms in repeated ecgs or when there is a LQTS risk score >3 ; if you have a known mutation you can make a diagnosis irrespective of ecg

Schwarts score is used for diagnosis of long qt

99
Q

manage long qt

A

avoid prolong QT prolonging drugs (clarithromycin, anaesthetic drugs etc), correction of electrolyte abnormalities, minimal exercise

100
Q

How do you correct the QT interval for heart rate?

A

(QT interval) / (Square root of R-R interval)

101
Q

short qt caused by a mutation in

A

K channels

102
Q

describe short qt syndrome

A

QT <300ms at heart rate <80bpm

May be associated with AF may present in young children and often a cause of young infant sudden death

103
Q

what are the ecg changes in brugada syndrome?

A

ST elevation and RBBB in V1-3

104
Q

diagnose brugada

A

Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block that cardiac sodium channel)

105
Q

treat brugada

A

. Treat – ICD; avoid drugs; genetic testing; ajmaline test (provokes arrhythmia and cardiovert)

106
Q

what drugs need to be avoided in long qt?

A

Na channel blockers, psychotropics, analgesics, anti arrhythmics and anaesthetics

107
Q

what is catecholaminergic polymorphic VT?

A

Adrenergic induced bidirectional and polymorphic VT, SVTS triggered by emotional stress or physical activity (autosomal dominant)

Alarm clocks and diving contraindicated.

108
Q
A

Catecholaminergic polymorphic ventricular tachycardia

109
Q

Catecholaminergic polymorphic ventricular tachycardia treat

A

given beta blockers; flecainide is considered but not always given

110
Q

describe wpw

A

Very common. Short PR interval with delta wave.

Ventricular preexcitation

AVRT most common arrhythmia

AF more common and may be pre-excited

Small risk of sudden death

Ablate the patient and its sorted

111
Q

mutations in what genes cause hypertrophic cardiomyopathy

A

sarcomeres

112
Q

what would you look for on ecg to show hypertrophic cardiomyopathy

A

left ventricular hypertrophy

113
Q

clinical signs and how you treat hypertrophic cardiomyopathy

A

Clinical profiles – sudden death; heart failure; end stage HF; atrial fibrillation

Treat – give ICD (HOCM: SCD risk calculator); avoid competitive sports

114
Q

genes associated with dilated cardiomyopathy

A

Sarcomere and desmosomal genes laminA/C and desmin if there is conduction disease, dystrophin if x linked

115
Q

genes and description of arrhythmogenic rv cardiomyopathy

A

Fibro fatty replacement of cardiomyocytes LV involvement in >50 % of vases. Autosomal dominant and associated with desmosomal genes.

116
Q

describe management of inherited cardiac conditions

A

clinical and genetic testing while managing risks (lifestyle (reduce exercise); pharmacological management (beta blockers); non pharmacological management (ICD). Also make sure to do family screening after genetic testing of patient.

If sudden collapse and clinical death with no internal defibrillator, early CPR is necessary.

117
Q

complications associated with transvenous leads

A

· Endocarditis

· Perforation

· Haemothorax

· Pneumothorax

· Thromboembolic events

· Vascular complications

· Lead fractures

· Lead extraction complications

· Lead dislodgement

118
Q

chemical pathologist

A

study of bodily fluids

119
Q

microbiologist

A

study of bacetria

120
Q

haematologist

A

stidy of blood components

121
Q

immunologist

A

study of allergens

122
Q

virologist

A

stidy of viruses

123
Q

why would a pathology specimen be abnormal?

A

inflammation; infection; metaplasia; dysplasia; invasive malignancy.

124
Q

metaplasia

A

is the transformation of one differentiated cell type to another differentiated cell type e.g. Barretts oesophagus

125
Q

dysplasia

A

presence of cells of an abnormal type within a tissue, which may signify a stage preceding the development of cancer (pre-invasive) e.g. tubular adenoma with high grade dysplasia, cervical intraepithelial neoplasia (CIN)

126
Q

differentiation

A

refers to the extent at which a tumour looks like its tissue of origin

127
Q

penetrance

A

the likelihood of having a disease if you have a gene mutation (100% penetrance means that you will always get the disease if you have the mutation)

128
Q

mendelian disorders

A

diseases that segregate in families in a manner predicted by mendels laws essentially a disease that predominantly caused by a single change in a single gene so has to be high penetrance

129
Q

aut dom children risk

A

autosomal dominant (50% risk of affected child – may have low penetrance)

130
Q

aut rec children risk

A

1 in 4 risk of affected child if parents are carriers

131
Q

x linked children risk

A

female carrier - half of the male children will be affected; half of the female children will be carriers. Affected male – all male children will be normal; all female children will be carriers

132
Q

In x linked diseases, a female carrier may show features of the disease due to

A

In x linked diseases, a female carrier may show features of the disease due to x inactivation

133
Q

G1/ S/ G2/ M are each controlled by a series of ….. that activate each other and other enzymes in a step-wise fashion. Each …. is activated by a specific …….

A

G1/ S/ G2/ M are each controlled by a series of cyclin dependent kinases (CDKs) that activate each other and other enzymes in a step-wise fashion. Each CDK is activated by a specific “cyclin”.

134
Q

next generation sequencing

A

Next generation is more expensive but you get a much greater amount of info on genes. (large number of genes it looks at. The more genes you test the more variants you find the more difficult it gets)

135
Q

polymorphism

A

Any variation in the human genome that has a population frequency of greater than 1% (every person has about 3 million)

136
Q

a mutation is a

A

DNA variant which causes or predisposes to a specific disease

137
Q

what are balanced and unbalanced chromosomes?

A

Balanced chromosome rearrangement

All the chromosomal material is present, even though may be arranged in a different way

Unbalanced chromosome rearrangement

Extra or missing chromosomal material. Usually 1 or 3 copies of some of the genome.

Having 1 or 3 copies of a part of your genome is developmentally bad news.

138
Q

acrocentric

A

Defined as a chromosome in which the centromere is located very near the end of the chromosome

139
Q

aneuploidy

A

whole extra or missing chromosome

140
Q

translocation

A

rearrangement of chromosomes

141
Q

what are the 4 non mendellian disorders?

A

multifactorial

imprinting

mitochondrial

mosaicism

142
Q

multifactorial

A

mutations in multiple genes combine with environmental factors to cause disease

143
Q

imprinting

A

Differences in gene expression depending on whether a gene is maternally or paternally inherited

144
Q

mitochondrial

A

Inherited almost exclusively from the mother; contains important genes for mitochondrial metabolic pathways and ribosomal RNAs

145
Q

what is mocaisicm and what are the two types?

A

· Defined as the presence of two or more populations of cells with different genotypes in one individual (Somatic Mosaicism – derived from a post-zygotic mutation, may affect only a portion of the body and are not transmitted to progeny; Gonadal Mosaicism - When a person has two populations of cells in the gonads, one population of cells containing a DNA mutation or chromosome anomaly)

146
Q

name and describe the 6 different types of mutations

A
147
Q

frameshift mutation

A

single base pair deletion

148
Q

DNA repair pathways

A

Base Excision Repair Pathway - Removes damaged bases

Nucleotide Excision Repair Pathway - Removes dimerize bases (caused by UV Damage)

Mismatch Repair Pathway - Removes mismatched Watson and Crick bases

Homologous Recombination - Copying DNA sequences from the sister chromatid to fill a double strand break

Non-homologous End Joining - Joining the two ends of a DSB

149
Q

…… is done when you know which gene the patient is predisposed to so you are only targeting/ looking for that one gene mutation.

A

PCR

150
Q

HOW DO YOU CALCULATE BABIES RISK OF GETTING CF?

A
151
Q

The bonds between the bases and various other interactions allow the DNA to curl into a helix, which then wraps around proteins called

A

histones

152
Q

RNA

A

— Single stranded

— Ribose rather than deoxyribose

— Uracil instead of Adenine

153
Q

¢ After transcription, you’re left with ……

¢ ….. must occur to get mature mRNA

¢ Splicing removes introns from the RNA transcript

¢ Only exons, which contain coding DNA, remain

A

pre-mRNA

Splicing

154
Q

Each …. correspond with an amino acids

A

codon (triplet of bases)

155
Q

describe dna synthesis

A

¢ DNA Helicase unzips the DNA; DNA polymerase copies the 5’-3’ strand

¢ DNA polymerase copies the 3’-5’ strand in Okazaki fragments which DNA ligase joins

156
Q

mitosis

A

Gives 2 identical daughter cells; Occurs in the M stage of the Cell Cycle

157
Q

meiosis

A

Gives 4 daughter cells; Daughter cells display genetic variation; Crossing-over

158
Q

describe FISH

A

¢ Involves attached a fluorescent probe to a gene

— One colour for one gene

¢ Can recognise aneuploidy, translocations etc.

These probes are complementary to certain regions of DNA in the target chromosomes, for example. This can therefore be used to identify aneuploidy, translocations etc.

159
Q

DESCRIBE ARRAY CGH

A

¢ Patient DNA is mixed with red fluorescent dye and the control DNA with green; these two are mixed together and placed in wells

¢ These wells contain DNA probes to which specific regions of the patient and control DNA can bind

¢ If there is more control than patient DNA for that specific region, the well will be predominantly green

160
Q
A

AUT DOM

161
Q
A

AUT REC

162
Q
A

X LINKED

163
Q

EXPRESSION

A

the process by which information from a gene is used in the synthesis of a functional gene product

164
Q

DE NOVO

A

An alteration in a gene that is present for the first time in a family

165
Q

INHERITED MUTATION

A

An alteration in a gene which is present in other family members

166
Q

A GENETIC CHANGE IN DNA COULD BE DUE TO

A

· A disease causing mutation (would be pathogenic if symptomatic with rare mutation of gene known to cause disease)

· A polymorphism

A variant of unknown significance

167
Q

WHAT ARE THE REASONS FOR HAVING A VARIANT OF UNKNOWN SUGNIFICANCE?

A

o Missence – causes a damage of one amino acid

o Trunkating – stop the sequence part of the way through

o Splicing – +/- exons; +/- introns in the final protein

168
Q

DIAGNOSTIC

A

NGS

169
Q

PRESYMPTOMMATIC

A

PCR TO LOOK FOR SPECIFIC GENE

170
Q

SMAD4:p.Met157Thr

A

The Methionine in the peptide sequence of SMAD4 at position 157 has mutated to an threonine

Position 1 is the first amino acid of the peptide sequence

171
Q

SMAD4:p.Cys162Ter

A

The Cystine in the peptide sequence of SMAD4 at position 162 has mutated to a stop codon

172
Q

SMAD4:c.471A>T

A

The Adenine in position 471 in the cDNA sequence has mutated to a thymine.

cDNA sequence is essentially the mature mRNA sequence with the introns removed, referenced to the first base of the first codon.

173
Q

SMAD4:p.Arg157Ile

A

The arginine in the peptide sequence of SMAD4 at position 157 has mutated to an Isoleuine

Position 1 is the start Methionine of the peptide sequence

(we need a Database reference to tell us which sequence we are looking at)

174
Q

INHERITANCE OF DISSCETING AA

A

AUT DOM

175
Q

CAUSES OF DISSECTING AA

A

changes in the TGF-beta1 pathway are associated with this; marfans sydnorme is associated with fibrillin mutations which has something to do with TGF-beta1

176
Q

wide spread eyes; increased vascular tortuosity; bifid uvula

A

Loeys dietz syndrome

177
Q

Loeys dietz syndrome associated with which mutations

A

TBR1/ TBR2

178
Q

IS LONG QT LOW OR HIGH PENETRANCE USUALLY?

A

LOW - MAY HAVE MUTATION BUT MAY NOT HAVE DISEASE (EXPLAIN TO PATIENT ON GENETIC TESTING)

179
Q

GENES CAUSING LONG QT

A

. LQTS1/ SCN5A – need to sequence a lot of genes as there are a lot of things that can cause it

NGS

180
Q

tendon xanthomas and corneal arcus in a young person is a clue for

A

FAMILIAL HYPERCHOLESTEROLAEMIA

181
Q

TREAT FAMILIAL HYPERCHOLESTEROLAEMIA

A

statins to reduce their cardiovascular risk (young MI? – genetic screening for mutations) do their cholesterol levels, bp and cardiovascular risks

182
Q

INHERITANCE PATTERN OF FAMILIAL HYPERCHOLESTEROLAEMIA

A

MULTIFACTORIAL

183
Q

MOST CARDIOVASCULAR GENETIC DISEASES ARE

A

MULTIFACTORIAL

184
Q

DESCRIBE THE GENETICS PF HUNTINGTONS

A

autosomal dominant; huntington gene; within 1 exon there is a trinucleotide repeat within the CAG; anticipation occurs (number of repeats increases with each generation); anyone with >36 repeats may be affected and >40 repeats = full penetrance

185
Q

DESCRIBE GENETICS OF ALZHEIMERS

A

ApoE; presenilin 1 and 2 and APP; genetic testing can be predictive; consider these if the patient has a rare phenotype/ affected at young age; multifactorial

186
Q

GENETICS OF BIPOLAR

A

twins play a large role in this disease; always check family history as is a risk factor in its self

187
Q

DESCRIBE THE GENETICS OF DUCHENNES MUSCULAR DYSTROPHY

A

x linked recessive; males; female carriers may have mild symptoms; mutation in dystrophin leading to a dystrophin deficiency (large scale deletions). Dystrophin is a key part of the Dystrophin-associated glycoprotein complex which links the internal cytoskeletal system of individual myofibers to structural proteins within the extracellular matrix

188
Q

GENETIC OF MS

A

multifactorial; more common in individuals with certain MHC haplotypes

189
Q

CHORIONIC VILLOUS SAMPLING

A

— Involves sampling the Chorionic Villi

Complete at approx. 11.5 weeks

190
Q

AMNIOCENTESIS

A

— Involves sampling the amniotic fluid

Complete at 15 weeks +

191
Q

FOETAL BLOOD SAMPLING

A

— Involves inserting a needle directly a foetal blood vessel

— Complete at 18+ weeks

192
Q

MATERNAL BLOOD SAMPLING

A

— Involves extracting free foetal DNA from the mother’s blood

— Complete at 8+ weeks

193
Q

WHAT IS CONFINED PLACENTAL MOCAISISM

A

¢ Placenta is a highly proliferative tissue

¢ High proliferation = high number of mutations

DIFFERENCES IN THE CELLS GENETIC MAKE UP IN THE PLACENTA

194
Q

CURRENT PRENATAL SCREENING FOR DOWNS SYNDROME

A

¢ Dating Ultrasound Scan with Serum Biochemistry

— Performed at approx. 12 weeks

— Looks for increased Nuchal thickness

¢ Serum Screening

— Performed at approx. 16 weeks

¢ Detailed Ultrasound Scan

— Performed at approx. 20 weeks

— Looks for other foetal abnormalities

195
Q

WHAT IS PREIMPLANTATION GENETIC DIAGNOSIS?

A

FINDING MUTATION AND ENSURING FOETUS IMPLANTED DOES NOT HAVE IT BY ONLY PLANTING SPECIFIC EMBRYOS

196
Q

GENETIC OF CHRONIC MYELOID LEUKAEMIA

A

— Associated with the Philadelphia Chromosome

— Reciprocal translocation of Chromosomes 9 and 22

— Allows the formation of a tyrosine kinase

— Transfers a phosphate group from ATP to a protein causing it to turn on

— Codes for a protein that is continuously activated resulting in unregulated cell division

197
Q

GENETICS OF POLYCYTHAEMIA RUBRA VERA

A

— Commonly a mutation in JAK2

— Results in the formation of a kinase

Kinase allows activation of erythropoiesis in the absence of erythropoietin

198
Q

MUTATIONS INVOLVED IN ESSENTIAL THROMBOCYTHAENIA

A

Associated with CALR or MPL mutations

199
Q

MUTATIONS INVOLVED IN MYELOFIBROSIS

A

— Associated with JAK2 and CALR mutations

200
Q

MISCARRIAGES WHICH ARE REFERRED TO COUNSELLING

A

>14 WEEKS GESTATION

201
Q

STILL BIRTH

A

>24 WEEKS TO TERM

202
Q

COT DEATH NOW CALLED

A

sudden unexpected death in infancy (SUDI).

203
Q

WHAT IS AN APNOEA MONITOR?

A

ALARM GOES OFF WHEN BABY STOPS BREATHING

204
Q

DO NOT LET BABY SLEEP

A

WITH YOU

IN A CAR SEAT

205
Q

HOW WOULD YOU ASSESS A BABY IF THE APNOEA ALARM GOES OFF

A

look at baby not alarm; check if baby is breathing; give baby a pat on the nappy as may just need stimulation; check airway; check breathing; check circulation; carry on as routine

206
Q

TRANSCRIPTION

A

dna acts a template to make pre mrna

207
Q

SPLICING

A

mrna spices out introns to make mature mrna

208
Q

TRANSLATION

A

mrna used as template to make polypeptide

209
Q

RNA MODIFICATION

A

edit or remove pathological mRNA

210
Q

WHAT ARE THE STAGES OF DEVELOPING A NEW MEDICINE?

A

Idea and disease target

Phase one – give it to a human

Phase two – give it to a patient with the disease

Phase three – study to see if it helps with a cohort of patients (clinical efficacy)

211
Q

SPINOMUSCULAR ATROPHY GENETICS

A

sma type 1 (nusinersin)

One child with SMA – 1 in 4 risk of another affected child

In some testing there is prenatal testing for sma, but this does not come with guaranteed treatment

212
Q

DRUG USED IN LONG QT

A

LONG ACTING BETA BLOCKERS

213
Q
A

CLASP (6 decks)

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