Pathologies - Random

Question 1

What would a default in Elastin cause?

Answer 1

Supravavlular Aortic Stenosis

Question 2

What would a defect in Collagen Cause?

Answer 2

Ehler’s Danlos Syndrome

Osteogenesis imperfecta

Question 3

What causes Marfan’s Syndrome?

Answer 3

Defect in Fribillin-1

Question 4

What causes Macular Corneal Dystrophy?

Answer 4

Defect in Keratan Sulfate

Question 5

What causes Dyssegmental dysplasia – Silverman – Handmaker

Answer 5

Defect in Perclan

Question 6

What virus causes Yellow Fever?

Answer 6

Flavavirus

Question 7

What is Li Fraumeni Syndrome a defect in?

Answer 7

p53 Gene

Question 8

If there is a defect in the RB Protein, what kind of cancers is the individual likely to develop?

Answer 8

Retinoblastoma and osteosarcomas

Question 9

What is the condition called where there is inadequate decent of the testes bilaterally?

Answer 9

Cryptochidism

Question 10

What is the sarcophagus called when it undergoes metastatic changes in due acidic burns?

Answer 10

Barrett’s esophagus

Question 11

What is it called when the pampiniform of the testes is obstructed?

Answer 11

Variicoceole

Question 12

What is it called when there is abnormal fluid in the tunica vaginalis?

Answer 12

Hydrococeole

Question 13

If there is an etpoic pregnancy which causes rupture of the tube, where will the blood and fluid drain?

Answer 13

Pouch of Douglas

Question 14

What is Tay-Sachs disease?

Answer 14

Dysfunction of lysosomes resulting in Neuron damage / death

Question 15

What is the defect in Epidermolysis Bullosa Simplex?

Answer 15

Hemidesmosomes

Question 16

What is Kartegener’s Syndrome?

Answer 16

Dysfunction of protein Dynein, resulting in inactivation of motor proteins.
Micro-tubules are affected.

Question 17

What is the name of trisomy 13? outcomes?

Answer 17

Patau’s Syndrome

Multiple and often defected organs

Question 18

What is the name of trisomy 18?

Answer 18

Edwards Syndrome

Question 19

What is the causes of Edward’s Syndrome, and what are the symptoms?

Answer 19

Additional chromosome of 18
Symptoms:
Serious condition affecting the growth and development of a child. 1 in 12 babies die within a year who have it.

Question 20

What is triploidy?

Answer 20

Extra chromosome for all chromosome. Incompatible with life.

Question 21

What is Klinefelter Syndrome? What are the symptoms?

Answer 21

This is where there is an additional X chromosome.
The primary symptom is:
- infertility

In females the effects are modest due to the deactivation of the used chromosomes. Only the tips are still expressed.

men are usually tall and may develop breasts

Question 22

What is robertsian translocation? what is the most common?

Answer 22

translocation of a gene with a non-homologous gene

gene 21 onto gene 14. - Down Syndrome

Question 23

What Junction disorder leads to Vonwinkel Syndrome

Answer 23

GAP junctions

Question 24

What is the most common cause of Down Syndrome?

Answer 24

Non - Disjunction / Aneuploidy

Question 25

What is major cardiovascular concern in Pagets disease?

Answer 25

Heart failure due to increased cardiac output demands with increase in blood heading to the bone.

Question 26

What condition seen throughout families may result in hyperlipoproteinaenmia? and what is the cause?

Answer 26

Familial Hypercholestrolaenmia

Unable to up regulate LDL receptors

Question 27

If there is an increase in Alpha-fetal protein, what can this be suggestive of?

Answer 27

Neural Tube defect - often spina bifida

Question 28

With a decrease in alpha-fetal protein and an increase in Beta human chorionic gonadotrophin hormone, what could be a potential diagnosis?

Answer 28

Down Syndrome.

*note this would only give the criteria to carry out a amniocentesis

Question 29

What type of ultasound is carried out for Down Syndrome and what is significant?

Answer 29

Nuchal ultrasound

Increased nuchal translucency

Question 30

What is Grave’s disease?

Answer 30

Organ specific autoimmune disease. Where antibodies attach to the Thyroid Hormone stimulating receptor - activating the thyroid.

Negative feedback is sent to the pituitary to stop sending TSH - but none is being sent to stop.

Question 31

What is Sickle cell anemia and what is its causes?

Answer 31

A point mutation affecting the short arm of chromosome 11.
Where a base glutamic acid is replaced with Valine.

this results in dysfunctional Beta globulin chain.