Respiratory Flashcards
1
Q
What is the most common mutation for CF?
A
Delta 508 in 85%,
508 => 85%
2
Q
What percentage of the Aus ppn have G551D mutation?
A
5%.
G551- 5%
3
Q
What is the function of the F508 gene?
A
Codes for CFTR protein on chromosome 7.
Type 2 and 6 mutation
4
Q
What is a class I mutation?
A
Problem in synthesis- absence.
5
Q
What is a class II mutation?
A
Defective protein maturatino and premature degradation. Doesn’t fold properly and sits in endoplasmic reticulum.
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
7
Q
What is class IV mutation?
A
Defective conductance- can’t get through the gate properly
8
Q
What is Class V mutation?
A
Reduced number of CFTR
9
Q
What are the TYPES of new therapies for CF?
A
Potentiators, correctors and combinations
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
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.
12
Q
What does Luma+Ivacaftor combination work for?
A
Homozygous deltaF508 mutation, reduces decline/year by 2%. on PBS.
13
Q
What is the triple therapy used for? Elexcaftor:Tezacaftor:Ivacaftor
A
For single delta F508 mutation. Still awaiting PBS but significant improvement
14
Q
What type of mutation in delta F508?
A
2 and 6
2+6 = 8
15
Q
Which neonatal lung condition has a systemic blood supply?
A
Pulmonary sequestration
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.
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
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%
19
Q
At how many weeks does the layrnx start developing?
A
4 weeks
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.
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.
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
23
Q
4 components of surfactant
A
- Dipalmotoylphosphotidylcholine
- Phophotidyl glycerol
- Apoproteins A-D
- Cholesterol
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
25
Which two surfactant proteins are imp for immunity
A and D (protect from front and back)
26
Which two surfactant proteins are important for biophysical properties
B and C
27
What time frame does RDS present in
Within 2 minutes
28
Benefit of giving antenatal steroids before 37 weeks gestation
Improves all cause mortality, NICU admission for ventilation, severe IVH and NEC
29
Which steroids is used in antenatal period
Betamethasone (celestone)
30
TIme frame to give antenatal steroids?
If preterm labour between 24-36 weeks and one week till delivery
31
DIfference between primary and secondary haemorrhage psot tonsillectomy
Primary in 24 hours (less common
Secondary upto 2 weeks post- more common
32
Most common bug for otitis media
Moraxella catarrhalis
33
What is Gradenigos syndrome
abducens nerve palsy, petrous apicitis, trigeminal nerve pain
Complication of otitis media
34
What are nasal polyps
benign tumours from chronically inflammed nasal mucosa
35
3 causes of nasal polyps
Mostly commonly CF, chronic sinusitis and allergic rhinitis
36
How does nebulised adrenaline help with Croup
Arteriole constriction --> fluid resorption--> reduced laryngeal mucosal oedema
37
Common bacteria for epiglottis - most common prev and now.
H Influenzae
Niw Strep pyogenes/pneumoniae
38
Toxic, drooling, laboured breathing, high fevers, thumb sign
Epiglottitis
39
Are steroids and adrenaline useful in Epiglottitis
No.
Make things worse due to distress caused to the child. They need antibiotics,
40
HIgh fever, toxic, flat but not drooling, no dysphagia
Bacterial tracheitis
41
Most common bug for bacterial trachieitis
Staph aureus
42
Xray sign for croup
Steeple sign
43
Inspiratory stridor worse with crying and feeding difficulty
Laryngomalacia
44
Inspiratory/biphasic stridor
Worse when unwell with viral illness- presents like croup
Subglottic stenosis
Should be considered for recurrent noisy airway when unwell etc.
Congenital vs acquired (prolonged intubation)
45
High pitched inspiratory stridor, phonatory sound, inspiratory cry
Bilateral vocal cord palsy
46
Whar are myelominigocele, chiaro malformation and hydrocephalus associated with
B.L vocal cord paralysis
47
What condition is associated with laryngeal web? What are the symptoms of laryngeal web?
DiGeorge
No symptoms.
48
Syndrome associated with subglottic haematoma/haemangioma
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
49
Barium swallow= posterior oesophagus indentation from aberrant vessel encircling oesophagus and trachea
THis is a tracheal ring
50
Pneumomic for remembering stages of lung development?
EPCSA
Embryonic
Pulmonary
Cannalicular
Sacular
Alveolar.
51
Does maternal antiepileptics increase or reduce the risk of cleft lip/palate in babies?
Increase
52
What type of scope can be used for laryngeal cleft of dilating subglottic stenossi
LTB
53
Difference in presentations/signs between laryngo and tracheomalacia?
Tracheo: exp stridor or wheeze
Laryngo: stridor (most common cause of stridor)
Note can get signs of tracheomalacia with vascular ring
54
How long does a cough have to be present for to diagnose PBB
4 weeks, wet cough.
75% have an associated wheeze
55
3 bugs commonly causing PBB
Moraxella Catarrhalis - PINK
Strep penumo- PURPLE
H Influenzae- PINK
56
Treatment for PBB?
Augmentin for total 6 weeks but reassess after 2 weeks.
57
Most common site for FB to be stuck?
R main bronchus, so expect in RLL if supine
58
Testing in primary ciliary dyskinesia
Nitric oxide and electron microscopy
Nitric oxide significantly reduced
59
Associations with primary ciliary dyskinesia (3)
1. Situs inversus (and Kartegeners in 50%)
2. TGA
3. Asplenia
4. Males= infertilie (pserm dysmotility), females subfertile
60
Most common bugs causing pneumonia in neonates
1. GBS
2. E COli
3. Strep pneumo
4. haemophilus
61
Most common bugs causing pneumonia in <3mo
1. RSV and other viruses
2. Strep pneumo
3. H influenza
62
Most common bugs causing pneumonia in <4yo
1. RSV and other viruses
2. Strep pneumo
3. H Influenzae
4. Mycoplasma
63
Most common bugs causing pneumonia in >5yo
1. Mycoplasma pneumo
2. Strep pneumo
3. Chlamydia pneumo
4. H influenzae
64
Which bug causes severe pneumonia including necrotising pneumonia and lobar pneumonia
Staph aureus
65
Why are beta lactams ineffective for mycoplasma
No cell wall!
Treat with azithromycin
66
3 complications of pneumonia
1. SIADH
2. Pleural effusion
3. Empyema
67
What conditions are associated with lymphocytic interstitial pneumonitis
This is essentially bronchiectasis with cough, SOB. Has micronodular infiltrates.
Associated with
HIV
EBV
Autoimmune disease
CVID
68
What percentage of the drug does MDI deliver to the lungs in comparison to nebuliser?
44% MDI
15% nebuliser
69
What is the treatment for chronic asthma in 6-11 years? Name the stepwise therapy
1. SABA
2. Low dose ICS
3 Low dose ICS and LABA or SMART therapy
70
Treatment for chronic asthma in kids <5yo
1. SABA
2. Daily ICS or leukotriene receptor antagonist (montelukast) or start ICS when unwell
3. Double low dose ICS
71
Why is LABA as monotherapy unsafe
Downregulation of beta receptors. Never used as monotherapy
72
Side effects of montelukast
Appetite changes, mood disturbance, increased suicidal ideation
73
The most common period for bronchiolitis obliterans? Ie context
Post transplant
74
Mechanism of action/drug class of SMART therapy
SMART stands for single maintenance and reliever therapy.
Usuually includes LABA and ICS
75
Starting and HIGH dose for ICS in kids aged 6-11
So typically use flixotide ie fluticasone proprionae.
Starting at 50-100/day, HIGH >200
76
Definition of good asthma control (based on daytime, nightime and reliever?)
<2 daytime symptoms/week
No night
<2 reliever/week
77
Definition of partial asthma control (based on daytime, nightime and reliever?)
Day time > 2 days/week
Reliever >2 days/week
Partial activity limitations
SOB at night/when waking
78
Definition of poor asthma control (based on daytime, nightime and reliever?)
Day time > 2 days/week and partially/fully relieved by rapid acting bronchoidlator
> 3 features of partial control in the same week
79
Carrier rate for CF
1 in 25
80
What are the three main diagnostic tests for CF
1. Sweat test
2. IRT (immuno reactive trypsinogen) in guthrie. Elevated due to impaired clearance from blocked pancreatic ducts
3. Genetics
81
How does a sweat test work and what values indicate CF
Acts on cells to measure total Cl in sweat (usually sponge with some electrodes)
>60 = diagnostic/high probability
30-60 = equivocal
<30= normal
82
What are some reasons for a false POSITIVE sweat test?
(Type 1 error)
eczema
malnutrition
CAH
Kleinfelters
Thyroid
83
What are some reasons for a false NEGATIGE sweat test
sample dilution
malnutrition
peripheral oedema
hypoproteinemia
84
What is the benefit of macrolides in CF?
Prevents biofilm production
85
How does dorinase alpha help in CF
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
Drop in FEV` for CF exacerbation?
10%
87
Sputum colour in ABPA
Brown
88
What is DIOS
Common gastrointestinal problem in childhood and adolescence
Distal intestinal obstruction syndrome. Mass in R iliac fossa.
89
Is CFTR ATP dependant or independant
Dependant
90
Which CF drug has a potential cataracts risk
Lumacaftor
Can't see the cataracts LOOOMING towards you
91
Name 2 syndromic causes of bronchiectasis (not CF related ?yield)
Williams-Campbell syndrome (no bronchial cartilage)
Marnier Kuhn syndrome (Congenital enlargement secondary to cartilage disorder)
92
Best antibiotic for Burkholderia in CF
Trimethoprim-sulfamethoxazole has the best coverage for burkholderia cepacia and has good oral absorption.
93
Best discharge therapy for psudeonomas in CF patients
inhaled Tobramycin
Also Cipro but more systemic side effects
94
What are these CT findings pathopneumonic for mosaic hyperinflation, bronchiectasis and vascular attenuation
Bronchiolitis obliterans
(Adeno or mycoplasma0
95
In lung agenesis, agenesis on which side is more deadly
R side
96
Management of unilateral lung agenesis
Usually conservative
Remaining lung will compensate but mediastinal shift persists
97
What is one of the outcomes of oligohydromamnios
BILATERAL pulmonary hypoplasia
98
What is the one major risk with CCAM
Cancer!
This is one of the only congenital lung malformations that is more likely to be surgically removed due to the risk.
99
The pathophys behind pulmonary sequestraton
Separate arterial supply from aorta (ie not from pulmonary artery) and so can have haemoptysis but more commonly, asymptomatic.
100
HOw are bronchogenic cysts formed
Abnormal budding of tracheal diverticulum of the foregut, before 16 weeks.
Usually R sided or midline
101
What is this:
Chronic tachypnoea and CT showed well-defined areas of ground glass opacity in the right middle lobe and lingual.
NEHI
Neuroendocrine cell hyperplasia of infancy
102
How do broncheogenic cysts often present?
Persistent chest infections in the same site.
Might require CT for further planning.
103
What is the most COMMON congenital diapragmatic hernia
Bochdalek hernia
104
Most common site and location of CDH
Left sided and posterior.
105
Is is Morgagni hernia
Anterior CDH, only in 2% of cases
106
What are the two stages (and substages) of sleep?
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
What proportion of your sleep is in each phase?
1 Light sleep) = 5%
2 Intermediate = 5-%
3. Deep = 25%
4. REM= 20-25%
108
How long is a sleep cycle and what is the progression of sleep in babies vs adults
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
What stage of sleep do sleep deprived adults start in?
REM
110
When do babies develop day night differentiation
1-3 months.
111
When do babies start sleeping through the night
by 9 months
112
Medical term for sleep study
Polysomniogram
113
When do night terrors occur( stage of sleep)
first 1/3 of night. Stages 3-4.
114
When does sleep walking occur(stage of sleep)
first stage of sleep, often early in life
115
3 syndromes associated with OSA
Prader Willi
T21
PRS
116
What scoring system is used for oximetry
(remember, oximetry is a good SCREENING test for requirement for further investigations re OSA)
McGill's scoring system
1. inconclusive
2. Mild (sats 85-90%)
3. Moderate (sats 80-85%)
4. Severe (sats <80%, needs surgery)
117
What is a complication of taken someone with DMD/BMD to theatre
Malignant hyperthermia
118
Is snoring associated with OSA
Yes but snoring does not = OSA.
119
What is the most common behavioural sleep disorder?
Sleep onset association disorder in infants
Child not able to self soothe, positively reinforced by parents. Difficult to treat
120
Treatment/one management for sleep onset association disorder in infants?
Extinction method.
Lets kids cry it out/wait till cry changes in pitch before going in
121
What is this.
Sudden onset screaming, inconsolable crying, balling, cant see parents, walking around room, tachycardia, wide staring eyes
Night terrors.
122
What phase of sleep does narcolepsy occur in and what are the common symptoms
REM sleep.
Sleep architecture disturbed so straight to REM. HyPERsomnolent durnig the day, fall alseep while talking or walking
123
What is cataplexy
Sudden loss of muscle tone while walking/laughing/crying/happy emotions.
Usually starts with facial droop and then complete collapse
(Part of narcolepsy)
124
What other condition is congenital hypoventilation syndrome associated with
Hirshsprungs
125
Gene for congenital hypoventilation syndrome
PHOX2B
126
What is delayed sleep phase
Common sleep disorder in adolescents, use chronotherapy to gradually push bed time forward
127
What is Kleine Leun syndrome
Calvin Klein always sleeping.
Sleeping beauty sydrome. Reversible periods of excessive sleep, hyperphagia and hypersexuality.
128
When does periodic limb movement disorder occur
When alseep or in NREM. Twitching movements of legs >5/hr
129
Common cause of periodic limb movement disorder
Iron def.
130
Common presentation of neuromuscular disorders at birth vs later
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
What disease is responsible for the second leading cause of death secondary to congenital disease in childhood
SMA
132
Name for the most severe SMA and what is the typical course
Never sit.
Werndig-Hoffman syndrome. Die within 2-3 years, almost always due to resp compromise
133
Clinical presentation/limitation of type 2 and 3 SMA
Type 2 sit, never walk
Type 3, walk
134
Type of lung disease in neuromuscular disorders
Restrictive
135
How much does FVC drop by every year once you are in wheelchair
4%
136
How much does FVC drop by for every 10 degrees of scoliosis
4%
137
What test is most likely to detect early resp failure in neuromuscular disease
Polysomniography
Sleeo study, identify nocturnal hypoventilation
138
Initial management of hyPOventilation
BiPAP
139
What are some direct triggers used for the bronchoprovocation challenge
agonist directly interacts with muscarinic receptors on airway smooth muscle causing contractions and airway narrowing
Methacoline
Histamine
140
What are some indirect triggers used for bronchoprovocation challenge
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
What does FeNO measure
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
Difference between SIMV and SIPPV?
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
Difference between volume and pressure guranteee?
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
What is the most important determinator of oxygenation during high frequency ventilation
MAP
This mode of ventialtion reduces risk of high pressure
145
Associations with Hirshsprung's disease
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)
