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MRCP Part 1 > Clinical Sciences > Flashcards

Clinical Sciences Flashcards

1
Q

X-linked recessive inheritance who is affected?

A

Males

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2
Q

Who transmits x-linked recessive disorders?

A

Heterozygote female carriers

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3
Q

What does the golgi add to proteins for trafficking to lysosomes?

A

Mannose-6-phosphate

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4
Q

What kind of disease is Gaucher’s?

A

Lysosomal storage disease

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5
Q

Enzyme replacement therapy for Gaucher’s?

A

IV Taliglucerase alfa

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6
Q

Function of RER?

A
  1. Translation and folding of new proteins
  2. Manufacture of lysosomal enzymes
  3. Site of N-glycosylation
  4. Examples of cells with extensive RER include pancreatic cells, goblet cells, plasma cells
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7
Q

Function of SER?

A
  1. Steroids, lipid synthesis

2. Examples of cells with extensive SER include those of the adrenal cortex, hepatocytes, testes, ovaries

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8
Q

Function of Golgi apparatus?

A
  1. Modifies, sorts and packages molecules that are destined for cell secretion
  2. Addition of mannose-6-phosphate to proteins designates transport to lysosome
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9
Q

Function of mitochondrion?

A

Aerobic respiration, contains mitochondrial genome as circular DNA

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10
Q

Function of nucleus?

A

DNA maintenance and RNA transcription

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11
Q

Function of lysosome?

A

Breakdown of large molecules such as proteins and polysaccharides

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12
Q

Function of nucleolus?

A

Ribosome production

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13
Q

Function of ribosome?

A

Translation of RNA into proteins

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14
Q

Function of peroxisome?

A

Catabolism of very long chain fatty acids and amino acids, results in the formation of hydrogen peroxide

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15
Q

Function of proteasome?

A

Along with the lysosomal pathway is involved in the degradation of protein molecules that have been tagged with ubiquitin

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16
Q

Which phase of the cell cycle determines cell cycle length?

A

G1 phase

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17
Q

Which phase of the cell cycle is influenced by p53?

A

G1

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18
Q

What is the cell cycle regulated by?

A

Proteins called cyclins which in turn control cyclin-dependent kinase enzymes

19
Q

What is G0?

A

‘Resting’ phase, quiescent cells such as hepatocytes and more permanently resting cells such as neurones

20
Q

What is G1?

A
  1. Gap 1, cells increase in size
  2. Determines length of cell cycle
  3. Under influence of p53
21
Q

Regulatory proteins of G1?

A
  1. Cyclin D/CDK4
  2. Cyclin D/CDK6
  3. Cyclin E/CDK2 - regulates transition from G1 to S phase
22
Q

What is S phase?

A
  1. Synthesis of DNA, RNA and histones

2. Centrosome duplication

23
Q

Regulatory proteins of S phase?

A

Cyclin A/CDK2 - active in S phase

24
Q

What is G2?

A

Cells continue to increase in size

25
Q

Regulatory proteins of G2?

A

Cyclin B/CDK1 - regulates transition from G2 to M phase

26
Q

What is M?

A

Mitosis, nuclear division, shortest phase of the cell cycle

27
Q

What can funnel plots be used for?

A

To show publication bias in meta-analyses

28
Q

How are funnel plots drawn?

A

Treatment effects on the horizontal axis and study size on the vertical axis

29
Q

How does one interpret a funnel plot?

A
  1. A symmetrical, inverted funnel shape indicates that publication bias is unlikely
  2. An asymmetric funnel indicates a relationship between treatment effect and study size. This indicates either publication bias or a systematic difference between smaller and larger studies (small study effects)
30
Q

What does a box and whisker plot show?

A

Graphical depiction of dataset quartiles, median and variability outside the upper and lower quartiles

31
Q

What is a chi squared test for?

A

To determine if two independent groups differ from each other, it evaluates binary outcomes

32
Q

What is a Kruskal-Wallis test?

A

A non-parametric test which compares the means of two or more independent groups

33
Q

What is per-protocol analysis?

A
  1. Usually used to attempt to determine if a treatment has a biological effect
  2. It involves removal of participants from the data in a study who do not meet all the requirements of the protocol criteria for the study
34
Q

2 types of cell division?

A

Mitosis and meiosis

35
Q

Mitosis mushkies?

A
  1. Occurs in somatic cells
  2. Results in 2 diploid daughter cells
  3. Daughter cells are genetically identical to parent cell
36
Q

Meiosis mushkies?

A
  1. Occurs in gametes
  2. Results in 4 haploid daughter cells
  3. Daughter cells contain one homologue of each chromosome pair and are therefore genetically different
37
Q

What is a haploid cell?

A

Only have a single copy of each chromosome, e.g. gametes (ova and spermatozoa)

38
Q

Phases of mitosis?

A
  1. Prophase
  2. Prometaphase
  3. Metaphase
  4. Anaphase
  5. Telophase
  6. Cytokinesis
39
Q

Prophase?

A

Chromatin in the nucleus condenses

40
Q

Prometaphase?

A

Nuclear membrane breaks down allowing the microtubules to attach to the chromosomes

41
Q

Metaphase?

A

Chromosomes aligned at middle of the cell

42
Q

Anaphase?

A

Paired chromosomes separate at the kinetochores and move to the opposite sides of the cell

43
Q

Telophase?

A

Chromatids arrive at opposite poles of the cell

44
Q

Cytokinesis?

A

Actin-myosin complex in the centre of the cell contacts resulting in it being \pinched’ into two daughter cells

MRCP Part 1 (4 decks)

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