Disorders of growth and differentiation

Question 1

three examples of increased growth

Answer 1

• hyperplasia
• hypertrophy
• combined hypertrophy and hyperplasia

Question 2

physiological and pathological example of hypertrophy

Answer 2

athletes muscles

right ventricular hypertrophy

Question 3

environmental systematic growth disorders

Answer 3

pollution
lead
housing
foetal alcohol syndrome

Question 4

Haploinsufficiency

Answer 4

only half as much as normal being produced

Question 5

SHOX

Answer 5

expressed in chondrocytes of the human growth plate:

Question 6

Immunohistochemistry performed on fetal humeral growth plates when

Answer 6

22 weeks gestation

Question 7

Immunohistochemistry performed on pubertal tibial growth plates when

Answer 7

(13 years)

Question 8

Immunohistochemistry staining

Answer 8

preimmune serum as a negative control and SHOX-specific antibodies

Question 9

Beckwith-Wiedemann syndrome

Answer 9

• inheriting two copies of a chromosomes from one parent
• increased expression of IGF-II
• Decreased expression of H19
• this causes overgrowth in childhood

Question 10

pituitary Gigantism

Answer 10

increased IGF-1

Increased growth hormone and is often the result form a pituitary tumour

Question 11

Achondroplasia

Answer 11

FGFR3 (regulates cell growth by sending signal to repress it) mutation
occur is in the transmembrane domain G380R and remains dimerised so there is no way to switch off the signal so is always active
this effects long bones especially the proliferation zones

Question 12

Col II specifically expresses mutant in

Answer 12

chondrocytes

DEFECT IN CARTILAGE NOT THE BONE

Question 13

Col I specifically expresses mutant in

Answer 13

osteoblasts

DEFECT IN CARTILAGE NOT THE BONE

Question 14

Metaplasia

Answer 14

change of differentiated cell type
response altered cellular environment
often epithelial or mesenchymal cells
NOT PREMALIGNANT

Question 15

Dysplasia

Answer 15

increased cell proliferation 
atypical morphology 
decreased differentiation 
often PREMALIGNANT 
The expansion of immature cells

Question 16

Neoplasia

Answer 16

abnormal uncoordinated excessive cell proliferation
persists after initiating stimulus withdrawn
NOT ALWAYS MALIGNANT

Question 17

anomalies of organogenesis

Answer 17

agencies 
atresia 
hypoplasia 
ectopia/heterotopia 
malddifferentiation

Question 18

congenital abnormalities

Answer 18

genetic or teratogenic causes

Question 19

agenesis

Answer 19

failure to develop an organ or structure

Question 20

atresia

Answer 20

failure to develop a lumen

NOT failure to close like spina bifida and cleft palate

Question 21

hypoplasia

Answer 21

failure of organ to develop to a normal size

OPTIC NERVES

Question 22

Ectopia/heterotopia

Answer 22

small areas of mature tissue from one organ present in another such as endometriosis

Question 23

maldifferentiation

Answer 23

failure of normal differentiation

persistence of primitive embryological features