CPRS 34 36: Precision Medicine Trash

Question 1

Name the gene defect in Titinopathy muscular dystrophy

Answer 1

TTN gene

Question 2

Name the defect gene in Cystic Fibrosis, Which ion does it regulate the transport?

Inheritance pattern?

One of the clinical features will be thick _______ in lung airways

Answer 2

CFTR gene
Cl- ions

Autosomal recessive

One of the clinical features will be thick mucous in lung airways

Question 3

Type II cystic fibrosis: Related to maturation processing

Name the shift in amino acid

Name 2 drugs for treatment

Answer 3

Type II cystic fibrosis: Related to maturation processing

Name the shift in amino acid: Delta F508

Name 2 drugs for treatment:

• Lumacaftor
• Ivacaftor

Question 4

Type III cystic fibrosis: Related to ion channel gating

Name the shift in amino acid

Name 1 drug for treatment

Answer 4

Type III cystic fibrosis: Related to ion channel gating

Name the shift in amino acid
E551D

Name 1 drug for treatment
Ivacaftor

Question 5

Is coronary artery disease highly inheritable?

Answer 5

Yes

Question 6

Consider Long QT syndrome (LQTS)
- Inheritance pattern?
- Name the gene which has been mutated
- What will it cause?
Decrease outward \_\_\_\_\_\_\_\_ current
Remodells \_\_\_\_\_\_\_\_\_ signalling

Answer 6

Consider Long QT syndrome (LQTS)
- Inheritance pattern?
Autosomal Dominant

• Name the gene which has been mutated
  KCNH2
• What will it cause?
  Decrease outward potassium current
  Remodells Ca2+ signalling

Question 7

Name the following Descriptions

• Large collection of proteins:
• Large collection of small molecules:
• Identifying the macro and small molecules based on their mass to charge ratio:

Answer 7

Name the following Descriptions

• Large collection of proteins: Proteome
• Large collection of small molecules: Metabolome
• Identifying the macro and small molecules based on their mass to charge ratio: Mass Spectrometry

Question 8

There are 2 types of Mass spectrometry:

• Only selecting small number of molecules for MS analysis:
• Measure all the proteins and small molecules in the sample:

Answer 8

There are 2 types of Mass spectrometry:

• Only selecting small number of molecules for MS analysis: Targeted mass spectrometry
• Measure all the proteins and small molecules in the sample: Untargeted Mass Spectrometry

Question 9

Name:
Collection of everyday objects that are connectable via the Internet

Compare Standard medical devices and smart devices in terms of:

• Clinical grade or consumer grade
• Accuracy
• Portable or not?
• For diagnosis or disease screening?

Answer 9

Name:
Collection of everyday objects that are connectable via the Internet: Internet of Things

Standard medical devices VS smart devices:

• Clinical grade VS consumer grade
• More accurate VS Less accurate
• More portable VS Less portable
• For diagnosis VS For disease screening

Question 10

AI in Cardiovascular Imaging

• Image segmentation is partitioning ________ into multiple meaning sets
• Supervised classification is classification of images based on some features derived from the raw image, in which we need to train a ________, which is a form of prior knowledge.
• Unsupervised clustering is grouping similar objects into distinct groups without ___________ of the groups

Answer 10

AI in Cardiovascular Imaging

• Image segmentation is partitioning pixels into multiple meaning sets
• Supervised classification is classification of images based on some features derived from the raw image, in which we need to train a classifier, which is a form of prior knowledge.
• Unsupervised clustering is grouping similar objects into distinct groups without prior knowledge of the groups