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Question 1

How is EIB diagnosed?

Answer 1

spirometry showing a reduction in FEV1 after a suitable challenge test.

gold-standard is indirect bronchoprovocation

Question 2

preventative measures in learning disabilities- Patients with NMD who have a VC <60% predicted- what should happen next?

Answer 2

overnight ‘breathing’ assessment

Question 3

when do you use Mechanical insufflation–exsufflation?

Answer 3

treatment of choice in patients with NMD to enhance cough efficacy

Question 4

Who needs yearly sleep studies in learning disability groups?

Answer 4

Downs - oximetry
prader willi- oximetry and capnography

Question 5

What is the main cause of PAVMs?

Answer 5

HHT (hered haem teleng)
autosomal dom
HHT1: ENG encoding endoglin
HHT2: ACVRL1 encoding ALK-1
SMAD4

Question 6

Which type of HHT is more likley to have PAVMs?

Answer 6

HHT1 and SMAD4

rare complications of juvenile polyposis and aortopathy are associated with SMAD4
incrase of PAH in HHT2

Question 7

When do you get 2ary PAVMs?

Answer 7

following surgical treatment of complex cyanotic congenital heart disease
if a lung receives no or minimal hepatic venous return
rarely as part of other inherited vasculopathies

Question 8

in which patient group do you give prophylactic antibiotics for dental procedures?

Answer 8

PAVMs- highly associated with brain abscess formation
taken 1-2hr pre and a dose post

Question 9

When do you give prophylactic abx in PAVMs?

Answer 9

dental procedures, endoscopy, surgery, embolisation, and obstetric delivery

Question 10

which iron preparation should you use in PAVM patients?

Answer 10

Fe gluconate- lower amounts of elemental Fe- prevent overload (drive HHT complications/bleeding)

Question 11

When do you see PAH in PAVM?

Answer 11

rarely caused by PAVMs- normally caused by hepatic AVMs due to high pulmonary blood flow

Question 12

What are Curaçao criteria?

Answer 12

HHT diagnosis (need 3/4):
(1) spontaneous recurrent epistaxis
(2) mucocutaneous telangiectasia at characteristic sites
(3) a visceral manifestation (AVMs/gastric telangiectasia
(4) an affected first-degree relative

Question 13

What is T2MR blood test?

Answer 13

look for invasive fungal disease (candida)

Question 14

What is galactomannan?

Answer 14

Specific to aspergillus

Question 15

What is beta d glycan test?

Answer 15

Funghi

Question 16

What is a positive skin test?

Answer 16

> 3mm, assuming control is negative

Question 17

Answer 17

Question 18

What are the most common gene mutations in CF?

Answer 18

F508del (most common)
G551D
W1282X
G542X
N1303K

Question 19

What is a class 1 and 2 CFTR gene mutation mean?

Answer 19

reduction in the quantity of expressed CFTR protein

Class 1- nonsense and frame-shift mutations, as well as mRNA splicing defects eg G542X

Class 2- folding or maturation defects, which can result in premature CFTR degradation eg F508del

Question 20

What does class 3 and 4 gene mutations mean?

Answer 20

aberrant channel function rather than reduced quantities of CFTR

Class 3- limited channel gating that arises from ineffectual binding of nucleotide eg G551D

Class 4- able to open and close. However, Cl- and HCO3 ions are unable to freely pass

Question 21

What does Class 5 gene mutation in CF mean? and the novel Class 6?

Answer 21

Class 5- normal CFTR, a limitation of transcriptional regulation results in a reduced quantity of the protein being produced

Class 6- high turnover of CFTR at the channel surface

Question 22

Which class of gene reduces function of CFTR at the cell surface?

Answer 22

class 3 and 4

Question 23

which class of gene reduces the quantity of CFTR at the cell surface?

Answer 23

class 1, 2, 5 and 6

Question 24

What do CF modulators target?

Answer 24

potentiators- work in class 3. Ivacaftor specifically targets G551D, but also works in homozygous F508del
correctors- work in class 2 eg. tezacaftor and elexacaftor both work on F508del
premature stop codon suppressors or read-through agents- work in Class 1 (ataluren and gent)

Question 25

what is the sweat test cut off for CF?

Answer 25

60 mmol/L

40-60 is intermediate

Question 26

Which panels on a 9 panel plot are related to CVS?

Answer 26

panel 2,3 and 5

Question 27

Which panels on a 9 panel plot are related to ventilation?

Answer 27

panel 1,4 and 7

Question 28

Which panels on a 9 panel plot are related to ventilation/perfusion?

Answer 28

6, 8 and 9