L1 - Intro

Question 1

Aetiology

Answer 1

cause, set of causes, or manner of causation of a disease

Question 2

Pathogenesis

Answer 2

Origination and development of a disease

Question 3

Obstructive conditions

Answer 3

Reduction in airflow

difficult to exhale so air remains in lungs following full expiration

Question 4

Obstructive causes

Answer 4

this occurs due to inflammation, excess mucus and airway narrowing via smooth muscle tightening

Question 5

Restrictive conditions

Answer 5

reduction in lung volume

hard to inhale lungs as they cannot fully expand

Question 6

Restrictive causes

Answer 6

lung scarring, fibrosis and extra-parenchymal problems

Question 7

Infections, environmental and other diseases

Answer 7

viral and bacterial infections, asbestosis, particulate pollutants

Question 8

vascular diseases

Answer 8

pulmonary oedema, pulmonary hypertension

Question 9

Environmental influences

Answer 9

around 11,000 litres of air enter our lungs everydaty

Question 10

Inhalational exposures

Answer 10

allergens, microbes, aerosolised toxins i.e. tobacco smoke and air pollutants

Question 11

genetic influence

Answer 11

mono or polygenic diseases

Question 12

Monogenic diseases

Answer 12

rare diseases attributable to genetic variants with large effects

Question 13

Cystric fibrosis protein

Answer 13

CFTR

Question 14

CFTR function

Answer 14

Cl- ion transport

Question 15

CFTR mutation

Answer 15

autosomal recessive

Question 16

Alpha-1-antitrypsin deficiency protein

Answer 16

SERPINA1

Question 17

SERPINA1 function

Answer 17

serine protease inhibitor

Question 18

SERPINA1 mutation

Answer 18

autosomal recessive

Question 19

Kartagener’s syndrome symptom

Answer 19

immotile cilia

Question 20

Kartagener’s syndrome protein

Answer 20

DNA1

Question 21

DNA1 function

Answer 21

dynein arm with ciliary function

Question 22

DNA1 mutation

Answer 22

autosomal recessive

Question 23

Hereditary Pulmonary Arterial Hypertension protein

Answer 23

BMPR2

Question 24

BMPR2 function

Answer 24

BMP-signalling

Question 25

BMPR2 mutation effects

Answer 25

endothelial dysfunction and smooth muscle proliferation

Question 26

BMPR2 mutation

Answer 26

autosomal dominant

Question 27

Chronic Granulomatous disease protein

Answer 27

CYBB

Question 28

CYBB function

Answer 28

component of phagocyte oxidase complex

Question 29

CYBB mutation

Answer 29

autosomal recessive

Question 30

Polygenic disease

Answer 30

complex diseases controlled by 2 or more genes at different loci on different chromosomes

Question 31

TLR2/4 and CD14

Answer 31

Pathogen recognition and innate immunity

Question 32

IL10 and TGFB1

Answer 32

Anti-inflammatory

Question 33

IL4 and IL4R

Answer 33

Th2 responses and IgE production

Question 34

IL13

Answer 34

Mucus production and IgE production

Question 35

IL2R and IL18R

Answer 35

T cell proliferation and Th1 responses

Question 36

TNFA

Answer 36

Proinflammatory

Question 37

ADAM 33

Answer 37

airway remodelling and airway hyperresponsiveness

Question 38

GSTP1, GSTM1 and SOD3

Answer 38

Antioxidants