Disorders of Growth and Differentiation Flashcards

1
Q

define auxetic growth of a cell

A

growth of a pre-existing cell (in size)

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2
Q

Define: accretionary growth of cells

A

ECM grows and cells do not

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3
Q

Physiological Hypertrophy in Muscle

A

Increase in cell size but not number

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4
Q

What pathologies cause pathological cell hypertrophy?

A

The right ventricle in cardiac dysfunction

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5
Q

What are some examples of physiological cell hyperplasia?

A

Adaptation to Altitude: Raised RBC count

Lactation: alveolar buds increase during pregnancy and lactation

Tissue Repair: Angiogenesis, Wound Healing, Liver Regeneration, Scarring

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6
Q

What are some examples of pathological hyperplasia?

A

Psoriasis: autoimmune skin disease

Keloid Scarring

Liver regeneration leading to cirrhosis, fatty change, or alcoholic hepatitis

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7
Q

Physiological Atrophy

A

Reduced Cell Size or Number or Both

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8
Q

What are some examples of Physiological Atrophy?

A

The thymus gland atrophies with age

Atrophy is a common part of ageing

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9
Q

What are some examples of pathological atrophy?

A

Muscles after trauma
Nerves in Paraplegics
Pressure from Bedsores
Diet in Anorexia Nervosa

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10
Q

What is Turner Syndrome?

A

Lack one chromosome containing the SHOX gene, resulting in 45XO
Results in Short Stature

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11
Q

What is the function of the SHOX gene?

A

Allows Chromosomes to realign and recombinate

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12
Q

Where is the SHOX gene located?

A

In the pseudoautosomal region of the X chromosome (tip), so it escapes X-inactivation

Expressed in chondrocytes of the human growth plate

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13
Q

Why does Turner Syndrome cause short stature?

A

Mutated/Missing SHOX gene

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14
Q

Beckwith-Wiedemann Syndrome

A

Inheritance of two copies of a chromosome from 1 parent and none from the other

Increased expression of IGF-II; Decreased expression of H19

Causes overgrowth in early childhood

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15
Q

Pituitary Gigantism

A

Increased IG1 and Growth Hormone, often from pituitary tumours

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16
Q

What mutation is present in the majority of cases of achondroplasia?

A

G80 Mutation

17
Q

What is the function of the FGFR3 gene?

A

Inhibits growth in the proliferative zone and has most effect in chondrocytes, particularly in long bones

18
Q

Metaplasia

A

Change of differentiated cell type as a response to altered cellular environment; this most often happens in epithelial or mesenchymal cells

19
Q

Dysplasia

A

Increased cell proliferation, decreased differentiation, and expansion of malignant cells

Often a sign of premalignancy

20
Q

Agenesis (Disorder of Differentiation)

A

Complete failure to develop an organ or structure

21
Q

Atresia (Disorder of Differentiation)

A

Failure to develop a lumen

22
Q

Hypoplasia (Disorder of Differentiation)

A

Failure of an organ to develop to a normal size

23
Q

Ectopia/Heterotopia

A

small areas of mature tissue from one organ are present in another (eg endometriosis)

24
Q

Maldifferentiation

A

Failure of Normal Differentiation with persistence of primitive embryological features

25
Q

Wilms Tumour

A

Childhood malignancy of the kidney