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Y2 random qs > MOD > Flashcards

MOD Flashcards

1
Q

What type of disease is homocystinuria?

A

Autosomal recessive

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2
Q 
Which enzyme is most invovled in homocystinuria?
A) Betaine
B) Cobalamin
C) Cystathionine beta-synthase
D) MTHF reductase
A

C) Cystathionine beta-synthase

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3
Q

Which amino acid gets converted into homocystinuria?

A

Methionine

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4
Q

What is the metabolic error in phenylketonuria?

A

Phenylalanine cannot be broken down –> builds in blood and brain –> brain damage

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5
Q

GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-

In which organ is the H+ excreted?

A

Stomach

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6
Q

GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-

In which organ is the HCO3- excreted?

A

Duodenum

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7
Q

What important molecule reclaimed in the kidneys that plays a role in acid/base balance?

A

Bicarbonate

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8
Q

Following which 3 increases does the O2 haemoglobin dissociation curve shift? Which direction does it shift?

A

Increased 2,3-DGP
H+
Temperature

Shifts RIGHT

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9
Q

What changes occur in CO2, O2 and H+ during:

Respiratory alkalosis?

A

Low CO2
Low H+
High O2

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10
Q

What changes occur in CO2, O2 and H+ during:

Respiratory acidosis?

A

High CO2
High H+
Low O2

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11
Q

What changes occur in CO2, O2 and H+ during:

Metabolic alkalosis?

A

Low H+
High CO2
Low O2

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12
Q

What changes occur in CO2, O2 and H+ during:

Metabolic acidosis?

A

High H+
Low CO2
High O2

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13
Q

What is the name of a benign tumour of non-glandular

epithelium?

A

Pappiloma

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14
Q

What is the name of a benign tumour of glandular

epithelium?

A

Adenoma

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15
Q

Defects of which process produces energy deficiency?

A

Fatty acid oxidation

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16
Q

Androgen insensitivity syndrome results in what presentation?

A

Genetically male but healthy female phenotype

  • absent pubic hair
  • ambiguous genitalia
  • amenrrhoea
  • infertility
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17
Q

1) Distributive shock
2) Hypovolaemic shock
3) Cardiogenic shock

A) Fluid loss
B) Cardiac pump failure
C) Severe vasodilation

A

Distributive - severe vasodilation
Hypovolaemic - fluid loss
Cardiogenic - cardiac pump failure

18
Q

What are the 4 types of distributive shock?

A

Septic Shock
Anaphylactic Shock
Neurogenic Shock
Toxic Shock Syndrome

19
Q

Hyponatraemia and a thirsty patient suggests what problem?

A

SIADH

20
Q

Hyponatraemia and a dry (not thirsty) patient suggests what problem?

A

Diuretics

21
Q

Is alkalosis a cause of hyperkalaemia or hypokalaemia?

A

Hypokalaemia

22
Q

Is acidosis a cause of hyperkalaemia or hypokalaemia?

A

Hyperkalaemia

23
Q

How do barbiturates work to increase cellular activity?

A

Anti-depressants - work by increasing P450 enzyme activity so other drugs get metabolised quickly

24
Q

Are malignant or benign tumours usually well differentiated?

A

Benign (malignant vary from anaplastic to well differentiated)

25
Q

Do malignant or benign tumours invade locally?

A

Malignant

26
Q

What is the term used to describe morphological changes in size/shape?

A

Pleomorphism

27
Q

What does stage measure?

A

Extent of a disease (the spread)

28
Q

What does grade measure?

A

How differentiated it is (severity)

29
Q

What does stroma provide to tumours?

A

Mechanical support
Nutrition
Intracellular signalling

30
Q

What is the term for a benign growth made up of an abnormal mixture of cells and tissues (normally found in the area of the body where the growth occurs)?

A

Hamartoma

31
Q

What is a choristoma?

A

A mass of histologically normal tissue in an abnormal location

32
Q

For the following carcinogens state if they initiate or promote:

1) Genotoxic carcinogens - damage DNA
2) Non-genotoxic carcinogens - induce replication
3) Complete carcinogens - UV light is an example

A

Genotoxic - initiate
Non-genotoxic - promote
Complete - initiate + promote

33
Q

What action to gene promoters inactivate TSGs?

A

Methylation

34
Q

Do pro-carcinogens act directly with DNA or require enzymatic activation beforehand?

A

Require enzymes

35
Q

Which type of cancerous gene is dominant (needs only 1 mutatnt copy of gene)

A

Oncogene

36
Q

What are the ways an oncogene can be activated?

A

Translocation
Amplification
Point mutation
Insertion

37
Q

Are tumour suppressor gene mutations dominant or recessive?

A

Recessive

38
Q

Mutations in gatekeepers or caretakers are worse?

What do they make unstable?

A

Caretakers

Genome

39
Q

What is the minimum number of genetic alterations needed to transform a normal cell into a neoplasmic cell?

A

3

40
Q

Overexpression of which enzyme leads to immortality?

A

Telomerase

41
Q

What is p53?
What syndrome has inactivation of p53?
What is the result of this?

A

Transcription factor
Li Fraumeni
Loss of apoptotic response

Y2 random qs (6 decks)

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