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RACP Written > Respiratory > Flashcards

Respiratory Flashcards

1
Q

What is the most common mutation for CF?

A

Delta 508 in 85%,

508 => 85%

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2
Q

What percentage of the Aus ppn have G551D mutation?

A

5%.

G551- 5%

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3
Q

What is the function of the F508 gene?

A

Codes for CFTR protein on chromosome 7.
Type 2 and 6 mutation

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4
Q

What is a class I mutation?

A

Problem in synthesis- absence.

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5
Q

What is a class II mutation?

A

Defective protein maturatino and premature degradation. Doesn’t fold properly and sits in endoplasmic reticulum.

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6
Q

What is class III mutation?

A

Disordered gating. At cell surface, ATP activates CFTR to open but in this mutation, unable to open

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7
Q

What is class IV mutation?

A

Defective conductance- can’t get through the gate properly

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8
Q

What is Class V mutation?

A

Reduced number of CFTR

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9
Q

What are the TYPES of new therapies for CF?

A

Potentiators, correctors and combinations

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10
Q

How does Ivacaftor work?

A

Treats Class III mutation- seen in G551D mutation which has reduced gating. Improves exacerbation free survival/improves flow of chloride through the channel

Increases ion-function of activated cell-surface CFTR

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11
Q

How does Lumacaftor work?

A

Treats Class II and IV. Reduces misfolded protein and if that gets to the border, reduced half-life.

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12
Q

What does Luma+Ivacaftor combination work for?

A

Homozygous deltaF508 mutation, reduces decline/year by 2%. on PBS.

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13
Q

What is the triple therapy used for? Elexcaftor:Tezacaftor:Ivacaftor

A

For single delta F508 mutation. Still awaiting PBS but significant improvement

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14
Q

What type of mutation in delta F508?

A

2 and 6

2+6 = 8

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15
Q

Which neonatal lung condition has a systemic blood supply?

A

Pulmonary sequestration

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16
Q

What are causes of EXTRA thoracic airway compression?

A

Uni or bilateral vocal chord paralysis, tacheomalacia AND airway burns.
Essentially cannot get air in as the ngative pressure causes the airway to collapse. Expiration OK.

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17
Q

What does vocal chord dysfn present with?

A

Typically wheeze on INSPIRATION and expectation, refractory to all treatment with for asthma. Can be common in females.
Also remember normal expiration but prolonged inspiration.
Need laryngoscopy as treatmetn

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18
Q

What is the risk of asthma to kids if their parents have it?

A

If one parents, risk of 20%.
If no parents, base line risk is 6-7%

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19
Q

At how many weeks does the layrnx start developing?

A

4 weeks

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20
Q

Where does the trachea form from?

A

Diverticulum from the foregut (which later becomes the oesopagus.)
So, THIS is where a TOF can develop.

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21
Q

What are the 4 stages of lung development?
Which stage does surfactant synthesis begin? Think of the age of surfing

A

EPCSA- Electronic pulmonary child association
E: Embryonic. First 5 weeks.
Pseudoglandular: 6-16, airways grow and cartilage and lymphatics develop. Pulmonary circulation from 6th branchial arch
Canalicular: 17-24. Further development of the arterial and venous. SURFACTANT SYNTHESIS BEGING.
Sacular: 24-36
Alveolar sack: 36-onwards. Forms acinus.

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22
Q

When does alveolar maturation complete

A

The process of alveolar division continues until 3 years of age, with the majority of divisions occurring within the first 6 months. To create a thinner diffusion barrier. The double-layer capillary network fuse into a single network, each one closely associated with two alveoli as maturation progresses.
Lung maturation till 8ypo

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23
Q

4 components of surfactant

A
  1. Dipalmotoylphosphotidylcholine
  2. Phophotidyl glycerol
  3. Apoproteins A-D
  4. Cholesterol
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24
Q

What type of alveolar cells responsible for storage of phopsholipids and synthesis of proteins for surfactant

A

Type 2 alveolar cells

Type 2 do 2 much work

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25
Q

Which two surfactant proteins are imp for immunity

A

A and D (protect from front and back)

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26
Q

Which two surfactant proteins are important for biophysical properties

A

B and C

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27
Q

What time frame does RDS present in

A

Within 2 minutes

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28
Q

Benefit of giving antenatal steroids before 37 weeks gestation

A

Improves all cause mortality, NICU admission for ventilation, severe IVH and NEC

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29
Q

Which steroids is used in antenatal period

A

Betamethasone (celestone)

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30
Q

TIme frame to give antenatal steroids?

A

If preterm labour between 24-36 weeks and one week till delivery

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31
Q

DIfference between primary and secondary haemorrhage psot tonsillectomy

A

Primary in 24 hours (less common
Secondary upto 2 weeks post- more common

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32
Q

Most common bug for otitis media

A

Moraxella catarrhalis

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33
Q

What is Gradenigos syndrome

A

abducens nerve palsy, petrous apicitis, trigeminal nerve pain
Complication of otitis media

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34
Q

What are nasal polyps

A

benign tumours from chronically inflammed nasal mucosa

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35
Q

3 causes of nasal polyps

A

Mostly commonly CF, chronic sinusitis and allergic rhinitis

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36
Q

How does nebulised adrenaline help with Croup

A

Arteriole constriction –> fluid resorption–> reduced laryngeal mucosal oedema

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37
Q

Common bacteria for epiglottis - most common prev and now.

A

H Influenzae
Niw Strep pyogenes/pneumoniae

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38
Q

Toxic, drooling, laboured breathing, high fevers, thumb sign

A

Epiglottitis

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39
Q

Are steroids and adrenaline useful in Epiglottitis

A

No.
Make things worse due to distress caused to the child. They need antibiotics,

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40
Q

HIgh fever, toxic, flat but not drooling, no dysphagia

A

Bacterial tracheitis

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41
Q

Most common bug for bacterial trachieitis

A

Staph aureus

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42
Q

Xray sign for croup

A

Steeple sign

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43
Q

Inspiratory stridor worse with crying and feeding difficulty

A

Laryngomalacia

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44
Q

Inspiratory/biphasic stridor
Worse when unwell with viral illness- presents like croup

A

Subglottic stenosis
Should be considered for recurrent noisy airway when unwell etc.
Congenital vs acquired (prolonged intubation)

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45
Q

High pitched inspiratory stridor, phonatory sound, inspiratory cry

A

Bilateral vocal cord palsy

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46
Q

Whar are myelominigocele, chiaro malformation and hydrocephalus associated with

A

B.L vocal cord paralysis

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47
Q

What condition is associated with laryngeal web? What are the symptoms of laryngeal web?

A

DiGeorge
No symptoms.

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48
Q

Syndrome associated with subglottic haematoma/haemangioma

A

PHACES
P: posterior fossa abnormalities
H: Haemagioma (in 100%)
A: Arterial anomalies (in 40%)
C: Cardiac (in 62%), including vascular ring, coarctation
E: Eye issues
S: sternal cleft/palate

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49
Q

Barium swallow= posterior oesophagus indentation from aberrant vessel encircling oesophagus and trachea

A

THis is a tracheal ring

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50
Q

Pneumomic for remembering stages of lung development?

A

EPCSA
Embryonic
Pulmonary
Cannalicular
Sacular
Alveolar.

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51
Q

Does maternal antiepileptics increase or reduce the risk of cleft lip/palate in babies?

A

Increase

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52
Q

What type of scope can be used for laryngeal cleft of dilating subglottic stenossi

A

LTB

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53
Q

Difference in presentations/signs between laryngo and tracheomalacia?

A

Tracheo: exp stridor or wheeze
Laryngo: stridor (most common cause of stridor)

Note can get signs of tracheomalacia with vascular ring

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54
Q

How long does a cough have to be present for to diagnose PBB

A

4 weeks, wet cough.
75% have an associated wheeze

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55
Q

3 bugs commonly causing PBB

A

Moraxella Catarrhalis - PINK
Strep penumo- PURPLE
H Influenzae- PINK

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56
Q

Treatment for PBB?

A

Augmentin for total 6 weeks but reassess after 2 weeks.

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57
Q

Most common site for FB to be stuck?

A

R main bronchus, so expect in RLL if supine

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58
Q

Testing in primary ciliary dyskinesia

A

Nitric oxide and electron microscopy

Nitric oxide significantly reduced

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59
Q

Associations with primary ciliary dyskinesia (3)

A
  1. Situs inversus (and Kartegeners in 50%)
  2. TGA
  3. Asplenia
  4. Males= infertilie (pserm dysmotility), females subfertile
60
Q

Most common bugs causing pneumonia in neonates

A
  1. GBS
  2. E COli
  3. Strep pneumo
  4. haemophilus
61
Q

Most common bugs causing pneumonia in <3mo

A
  1. RSV and other viruses
  2. Strep pneumo
  3. H influenza
62
Q

Most common bugs causing pneumonia in <4yo

A
  1. RSV and other viruses
  2. Strep pneumo
  3. H Influenzae
  4. Mycoplasma
63
Q

Most common bugs causing pneumonia in >5yo

A
  1. Mycoplasma pneumo
  2. Strep pneumo
  3. Chlamydia pneumo
  4. H influenzae
64
Q

Which bug causes severe pneumonia including necrotising pneumonia and lobar pneumonia

A

Staph aureus

65
Q

Why are beta lactams ineffective for mycoplasma

A

No cell wall!
Treat with azithromycin

66
Q

3 complications of pneumonia

A
  1. SIADH
  2. Pleural effusion
  3. Empyema
67
Q

What conditions are associated with lymphocytic interstitial pneumonitis

A

This is essentially bronchiectasis with cough, SOB. Has micronodular infiltrates.
Associated with
HIV
EBV
Autoimmune disease
CVID

68
Q

What percentage of the drug does MDI deliver to the lungs in comparison to nebuliser?

A

44% MDI
15% nebuliser

69
Q

What is the treatment for chronic asthma in 6-11 years? Name the stepwise therapy

A
  1. SABA
  2. Low dose ICS
    3 Low dose ICS and LABA or SMART therapy
70
Q

Treatment for chronic asthma in kids <5yo

A
  1. SABA
  2. Daily ICS or leukotriene receptor antagonist (montelukast) or start ICS when unwell
  3. Double low dose ICS
71
Q

Why is LABA as monotherapy unsafe

A

Downregulation of beta receptors. Never used as monotherapy

72
Q

Side effects of montelukast

A

Appetite changes, mood disturbance, increased suicidal ideation

73
Q

The most common period for bronchiolitis obliterans? Ie context

A

Post transplant

74
Q

Mechanism of action/drug class of SMART therapy

A

SMART stands for single maintenance and reliever therapy.
Usuually includes LABA and ICS

75
Q

Starting and HIGH dose for ICS in kids aged 6-11

A

So typically use flixotide ie fluticasone proprionae.
Starting at 50-100/day, HIGH >200

76
Q

Definition of good asthma control (based on daytime, nightime and reliever?)

A

<2 daytime symptoms/week
No night
<2 reliever/week

77
Q

Definition of partial asthma control (based on daytime, nightime and reliever?)

A

Day time > 2 days/week
Reliever >2 days/week
Partial activity limitations
SOB at night/when waking

78
Q

Definition of poor asthma control (based on daytime, nightime and reliever?)

A

Day time > 2 days/week and partially/fully relieved by rapid acting bronchoidlator
> 3 features of partial control in the same week

79
Q

Carrier rate for CF

A

1 in 25

80
Q

What are the three main diagnostic tests for CF

A
  1. Sweat test
  2. IRT (immuno reactive trypsinogen) in guthrie. Elevated due to impaired clearance from blocked pancreatic ducts
  3. Genetics
81
Q

How does a sweat test work and what values indicate CF

A

Acts on cells to measure total Cl in sweat (usually sponge with some electrodes)

> 60 = diagnostic/high probability
30-60 = equivocal
<30= normal

82
Q

What are some reasons for a false POSITIVE sweat test?
(Type 1 error)

A

eczema
malnutrition
CAH
Kleinfelters
Thyroid

83
Q

What are some reasons for a false NEGATIGE sweat test

A

sample dilution
malnutrition
peripheral oedema
hypoproteinemia

84
Q

What is the benefit of macrolides in CF?

A

Prevents biofilm production

85
Q

How does dorinase alpha help in CF

A

Muco-clearance agent.
Essentially ++ DNA death in the lungs= lots of sludge lying around of broken DNA. DOrinase breaks DNA bonds, leads smaller amount in lungs to then be cleared with physio.

86
Q

Drop in FEV` for CF exacerbation?

A

10%

87
Q

Sputum colour in ABPA

A

Brown

88
Q

What is DIOS

A

Common gastrointestinal problem in childhood and adolescence
Distal intestinal obstruction syndrome. Mass in R iliac fossa.

89
Q

Is CFTR ATP dependant or independant

A

Dependant

90
Q

Which CF drug has a potential cataracts risk

A

Lumacaftor

Can’t see the cataracts LOOOMING towards you

91
Q

Name 2 syndromic causes of bronchiectasis (not CF related ?yield)

A

Williams-Campbell syndrome (no bronchial cartilage)
Marnier Kuhn syndrome (Congenital enlargement secondary to cartilage disorder)

92
Q

Best antibiotic for Burkholderia in CF

A

Trimethoprim-sulfamethoxazole has the best coverage for burkholderia cepacia and has good oral absorption.

93
Q

Best discharge therapy for psudeonomas in CF patients

A

inhaled Tobramycin
Also Cipro but more systemic side effects

94
Q

What are these CT findings pathopneumonic for mosaic hyperinflation, bronchiectasis and vascular attenuation

A

Bronchiolitis obliterans
(Adeno or mycoplasma0

95
Q

In lung agenesis, agenesis on which side is more deadly

A

R side

96
Q

Management of unilateral lung agenesis

A

Usually conservative
Remaining lung will compensate but mediastinal shift persists

97
Q

What is one of the outcomes of oligohydromamnios

A

BILATERAL pulmonary hypoplasia

98
Q

What is the one major risk with CCAM

A

Cancer!
This is one of the only congenital lung malformations that is more likely to be surgically removed due to the risk.

99
Q

The pathophys behind pulmonary sequestraton

A

Separate arterial supply from aorta (ie not from pulmonary artery) and so can have haemoptysis but more commonly, asymptomatic.

100
Q

HOw are bronchogenic cysts formed

A

Abnormal budding of tracheal diverticulum of the foregut, before 16 weeks.
Usually R sided or midline

101
Q

What is this:
Chronic tachypnoea and CT showed well-defined areas of ground glass opacity in the right middle lobe and lingual.

A

NEHI
Neuroendocrine cell hyperplasia of infancy

102
Q

How do broncheogenic cysts often present?

A

Persistent chest infections in the same site.
Might require CT for further planning.

103
Q

What is the most COMMON congenital diapragmatic hernia

A

Bochdalek hernia

104
Q

Most common site and location of CDH

A

Left sided and posterior.

105
Q

Is is Morgagni hernia

A

Anterior CDH, only in 2% of cases

106
Q

What are the two stages (and substages) of sleep?

A

REM: rapid eye movement, dreaming
NREM: Stages 1-4.
1,2: regular breathing, stable HR
3,4: slow wave sleep.

1= light sleep
2= intermediate
3+4= deep

107
Q

What proportion of your sleep is in each phase?

A

1 Light sleep) = 5%
2 Intermediate = 5-%
3. Deep = 25%
4. REM= 20-25%

108
Q

How long is a sleep cycle and what is the progression of sleep in babies vs adults

A

90mins.
First third of the night mostly nREM, REM % increases throughout the night.

Adults: 1,2,3 and then REM. If adults start in REM, likely narcolepsy OR sleep deprived
Babies: start in REM.

109
Q

What stage of sleep do sleep deprived adults start in?

A

REM

110
Q

When do babies develop day night differentiation

A

1-3 months.

111
Q

When do babies start sleeping through the night

A

by 9 months

112
Q

Medical term for sleep study

A

Polysomniogram

113
Q

When do night terrors occur( stage of sleep)

A

first 1/3 of night. Stages 3-4.

114
Q

When does sleep walking occur(stage of sleep)

A

first stage of sleep, often early in life

115
Q

3 syndromes associated with OSA

A

Prader Willi
T21
PRS

116
Q

What scoring system is used for oximetry
(remember, oximetry is a good SCREENING test for requirement for further investigations re OSA)

A

McGill’s scoring system
1. inconclusive
2. Mild (sats 85-90%)
3. Moderate (sats 80-85%)
4. Severe (sats <80%, needs surgery)

117
Q

What is a complication of taken someone with DMD/BMD to theatre

A

Malignant hyperthermia

118
Q

Is snoring associated with OSA

A

Yes but snoring does not = OSA.

119
Q

What is the most common behavioural sleep disorder?

A

Sleep onset association disorder in infants
Child not able to self soothe, positively reinforced by parents. Difficult to treat

120
Q

Treatment/one management for sleep onset association disorder in infants?

A

Extinction method.
Lets kids cry it out/wait till cry changes in pitch before going in

121
Q

What is this.
Sudden onset screaming, inconsolable crying, balling, cant see parents, walking around room, tachycardia, wide staring eyes

A

Night terrors.

122
Q

What phase of sleep does narcolepsy occur in and what are the common symptoms

A

REM sleep.
Sleep architecture disturbed so straight to REM. HyPERsomnolent durnig the day, fall alseep while talking or walking

123
Q

What is cataplexy

A

Sudden loss of muscle tone while walking/laughing/crying/happy emotions.
Usually starts with facial droop and then complete collapse
(Part of narcolepsy)

124
Q

What other condition is congenital hypoventilation syndrome associated with

A

Hirshsprungs

125
Q

Gene for congenital hypoventilation syndrome

A

PHOX2B

126
Q

What is delayed sleep phase

A

Common sleep disorder in adolescents, use chronotherapy to gradually push bed time forward

127
Q

What is Kleine Leun syndrome

A

Calvin Klein always sleeping.

Sleeping beauty sydrome. Reversible periods of excessive sleep, hyperphagia and hypersexuality.

128
Q

When does periodic limb movement disorder occur

A

When alseep or in NREM. Twitching movements of legs >5/hr

129
Q

Common cause of periodic limb movement disorder

A

Iron def.

130
Q

Common presentation of neuromuscular disorders at birth vs later

A

polyhydramnios, reduced foetal movements in utero
Pulmonary hypoplasia and RDS at birth, arthrohryposis (congenital contractures), hypotonia, poor feeding (recurrent aspiration), motor delay, early fatigue

131
Q

What disease is responsible for the second leading cause of death secondary to congenital disease in childhood

A

SMA

132
Q

Name for the most severe SMA and what is the typical course

A

Never sit.
Werndig-Hoffman syndrome. Die within 2-3 years, almost always due to resp compromise

133
Q

Clinical presentation/limitation of type 2 and 3 SMA

A

Type 2 sit, never walk
Type 3, walk

134
Q

Type of lung disease in neuromuscular disorders

A

Restrictive

135
Q

How much does FVC drop by every year once you are in wheelchair

A

4%

136
Q

How much does FVC drop by for every 10 degrees of scoliosis

A

4%

137
Q

What test is most likely to detect early resp failure in neuromuscular disease

A

Polysomniography
Sleeo study, identify nocturnal hypoventilation

138
Q

Initial management of hyPOventilation

A

BiPAP

139
Q

What are some direct triggers used for the bronchoprovocation challenge

A

agonist directly interacts with muscarinic receptors on airway smooth muscle causing contractions and airway narrowing
Methacoline
Histamine

140
Q

What are some indirect triggers used for bronchoprovocation challenge

A

Trigger airway narrowing through inflammatory mechanisms genearted in the airways.
Exercise
Eucapnic voluntary hyperpnoea – breathe in medical air with 49% CO2
Hypertonic saline
Mannitol

141
Q

What does FeNO measure

A

Fractional of expired nitric oxide which is a marker of eosinophillic inflammation. Essentially helps differentiate asthma from other allergy differentials and helps predict response to ICS

142
Q

Difference between SIMV and SIPPV?

A

SIMV= only delivers support for the number of decided breaths ie if we decide RR 40 and baby is breathing at 60, only support 40 rbeaths.

SIPPV= delivers support for ALL breaths regardless of the rate. This can be dangerous

143
Q

Difference between volume and pressure guranteee?

A

Volume gurantee= will deliver SAME volume each time but can vary pressure.
This is favourable to pressure gurantee and reduced risk of harm from increased volume delivery

144
Q

What is the most important determinator of oxygenation during high frequency ventilation

A

MAP
This mode of ventialtion reduces risk of high pressure

145
Q

Associations with Hirshsprung’s disease

A
  1. Trisomy 21
  2. Joubert syndrome
  3. Goldberg-Shprintzen syndrome
  4. Smith-Lemli-Opitz syndrome
  5. Shah-Waardenburg syndrome
  6. cartilage-hair hypoplasia
  7. MEN2
  8. Neurofibromatosis
  9. Neuroblastoma
  10. ongenital hypoventilation (Ondine’s curse)

RACP Written (18 decks)

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