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Year 1 > Congenital Disorders (Down Syndrome) > Flashcards

Congenital Disorders (Down Syndrome) Flashcards

Chromosomal abnormalities, cell cycle, innate immunity, muscles.

1
Q

What is the strongest risk factor for Down Syndrome?

A

Materanl age

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2
Q

What is the most common congenital heart defect in Down Syndrome?

A

Atrioventricular Septal Defect (~37%)
Ventricular Septal Defect (~31%)
Atrial Septal Defect (~15%)

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3
Q

What is the most common GI anomaly seen in Down Syndrome?

A

Duodenal atresia

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4
Q

Primary Disability

A

The disability that most clearly expresses the experience of disability by a person

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5
Q

Which muscle types are striated?

A

Skeletal and cardiac

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6
Q

Which muscle types are multinuclear?

A

Skeletal

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7
Q

Which muscle types have intercalated discs?

A

Cardiac muscle - enables AP to move between cells and ensure a coordinated, wave-like contraction of the cardiac muscle

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8
Q

Which muscle types are under involuntary control?

A

Cardiac and smooth - both controlled by the autonomic nervous system

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9
Q

G1 Phase

A

Cell grows and organelles duplicate

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10
Q

G0 State

A

Cells that have arrested in G1 Phase for long periods - most cells in the body are in this state

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11
Q

S Phase

A

Chromosome duplicates to sister chromatids

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12
Q

G2 Phase

A

Cell grows and proteins are synthesised in preparation for mitosis

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13
Q

Interphase

A

Encompasses G1, S and G2 Phases and is characterised by increased cell size, DNA replication and preparation for division

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14
Q

Prophase

A

Sister chromatids condense and nuclear envelope dissolves

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15
Q

Prometaphase

A

Nuclear envelope breaks down and releases condensed chromosomes. Mitotic spindles attach to sister chromatids

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16
Q

Metaphase

A

Sister chromatids align at the equator of the mitotic spindle

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17
Q

Anaphase

A

Centromere divides and sister chromatids are pulled apart to opposite poles of the cell

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18
Q

Telophase

A

Nuclear membrane and nucleoli reform around each set of chromosomes. Chromosomes begin to decondense.

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19
Q

Cytokinesis

A

Division of the cytoplasm to form two new cells. May begin in either anaphase or telophase, but completes shortly after telophase.

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20
Q

Non-disjunction

A

The failure of chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes

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21
Q

Meiosis I

A

Process of cell division from a single cell with 4n DNA content, to two daughter cells of 2n DNA content

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22
Q

Meiosis II

A

Process of cell division from two daughter cells with 2n DNA content, to four granddaughter cells of 1n DNA content (gametes)

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23
Q

When does recombination occur?

A

Between Prophase I and Metaphase I

24
Q

When can non-disjunction occur?

A

Meiosis I
Meiosis II

25
Q

Triploidy

A

Three copies of every chromosome (diploidy = normal)

26
Q

What granddaughter cells are produced from non-disjunction at Meiosis I?

A

2 cells of n+1
2 cells of n-1
Due to a pair of homologous chromosomes failing to separate moving into one of the daughter cells

27
Q

What granddaughter cells are produced from non-disjunction at Meiosis II?

A

2 cells of n
1 cell of n+1
1 cell of n-1
Due to a pair of sister chromatids failing to separate in one daughter cell, but other daughter cell separates normally

28
Q

Why does Down Syndrome risk increase with maternal age?

A

Due to cells arresting at Prophase I for extended periods of time - leads to chromosomal instability

29
Q

What types of chromosomal abnormalities can occur?

A

Deletion
Duplication
Inversion
Translocation
Substitution
Aneuploidy

30
Q

When can chromosomal abnormalities occur?

A

Mitosis, Meiosis I or Meiosis II

31
Q

What are the 3 levels of innate immunity?

A

Physical/chemical barriers
Recognition of microbial molecules
Missing-self pathways

32
Q

What are some examples of PAMPs?

A

Peptidoglycan (Gram + bacteria)
dsRNA (viruses)
Lipopolysaccharide (Gram - bacteria)
ssDNA (viruses)

33
Q

Which immune system pathway is activated by PAMP recognition?

A

Innate immune system
Pattern Recognition Receptors on immune cells (e.g. macrophages or DCs) or secreted (e.g. Mannose-binding lectin)

34
Q

What are the 3 pathways that are activated following PAMP recognition?

A

Direct cytotoxicity
Opsonisation and phagocytosis
Intracellular signalling and inflammation

35
Q

Direct Cytotoxicity

A

Holes introduced into cell walls or membrane (e.g. by complement) by innate immune system following PAMP recognition

36
Q

Opsonisation

A

Coating of a foreign body with host molecules that signal for phagocytosis

37
Q

What cells carry out phagocytosis?

A

Neutrophils and macrophages

38
Q

Opsonin

A

C3b
CRP

39
Q

Examples of DAMPs

A

Extracellular ATP
Physical injury
Host cell death

40
Q

Acute Phase Proteins

A

A class of proteins whose plasma concentration either increase (positive APPs) or decrease (negative APPs) in response to inflammation

41
Q

Examples of negative acute phase proteins

A

Albumin
Transferring
Transthyretin
Transcortin
Retinol-binding protein

42
Q

Examples of positive acute phase proteins

A

CRP
Angiotensinogen
Alpha1-acid glycoprotein
LPS-binding protein
Ferritin
Fibrinogen
Serum amyloid A
Procalcitonin
Alpha1-antitrypsin

43
Q

What two stimuli can trigger the innate immune inflammation pathway?

A

PAMPs and DAMPs

44
Q

Anaphylatoxins

A

C4a
C3a
C5a

45
Q

What activates the classical complement pathway?

A

Antibody-antigen complexes

46
Q

What activates the alternative complement pathway?

A

C3b formed from spontaneous hydrolysis of C3. In presence of microbial surface will bind covalently and trigger the alternative complement pathway.

47
Q

Other than activating the complement cascade, what else does C3b do?

A

C3b also acts as an opsonin to enhance phagocytosis

48
Q

What activates the alternative complement pathway?

A

The presence of mannose residues on a pathogen surface

49
Q

What is the end product of the complement cascade?

A

Membrane Attack Complex (MAC)
Inserts itself into the microbial membrane and causes death by lysis

50
Q

Natural Killer Cells

A

A lymphocyte that is part of the innate immune system (5-10% of circulating lymphocytes)

51
Q

What type of infection do NK cells mainly deal with?

A

Viral infections
Kill cells that have a reduced amount of inhibitory signal (e.g. through decreased expression of MHC 1)

52
Q

C3 and Factor B deficiency

A

Severe bacterial infections

53
Q

C3b-INA, C6 and C8 deficiences

A

Severe Neisseria infections

54
Q

Deficiencies of early C components (C1, C4, C2)

A

SLE
Glomerulonephritis
Polymyositis

55
Q

C1-inhibitor deficiency

A

Hereditary angioedema

56
Q

Five signs of inflammation

A

Pain
Fever
Oedema
Loss of function
Erythema

Year 1 (23 decks)

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