MOD Flashcards

(41 cards)

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?

20
Q

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

21
Q

Is alkalosis a cause of hyperkalaemia or 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
Do malignant or benign tumours invade locally?
Malignant
26
What is the term used to describe morphological changes in size/shape?
Pleomorphism
27
What does stage measure?
Extent of a disease (the spread)
28
What does grade measure?
How differentiated it is (severity)
29
What does stroma provide to tumours?
Mechanical support Nutrition Intracellular signalling
30
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)?
Hamartoma
31
What is a choristoma?
A mass of histologically normal tissue in an abnormal location
32
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
Genotoxic - initiate Non-genotoxic - promote Complete - initiate + promote
33
What action to gene promoters inactivate TSGs?
Methylation
34
Do pro-carcinogens act directly with DNA or require enzymatic activation beforehand?
Require enzymes
35
Which type of cancerous gene is dominant (needs only 1 mutatnt copy of gene)
Oncogene
36
What are the ways an oncogene can be activated?
Translocation Amplification Point mutation Insertion
37
Are tumour suppressor gene mutations dominant or recessive?
Recessive
38
Mutations in gatekeepers or caretakers are worse? | What do they make unstable?
Caretakers | Genome
39
What is the minimum number of genetic alterations needed to transform a normal cell into a neoplasmic cell?
3
40
Overexpression of which enzyme leads to immortality?
Telomerase
41
What is p53? What syndrome has inactivation of p53? What is the result of this?
Transcription factor Li Fraumeni Loss of apoptotic response