ESA 1 Clinical Conditions- ToB

Question 1

What is ectopic pregnancy?

Answer 1

Implantation of the embryo in the fallopian tubes which leads to rupture of the tube, miscarriage and haemorrhage

Question 2

What is placenta praevia?

Answer 2

Implantation of the embryo in the lower segment of the uterine wall. The placenta blocks the cervix so a C-section is required

Question 3

What is Marfan’s syndrome?

Answer 3

Misfolding of the fibrillin leading to more elastic connective tissue

Question 4

Give 3 features of marfan’s disease

Answer 4

Very tall
Long digits
Death from aortic rupture

Question 5

How is Marfan’s disease inherited?

Answer 5

Autosomal dominant

Question 6

What is Ehlers-Danlos disease?

Answer 6

Type III collagen deficiency leading to loss of structure

Question 7

Give 3 features of Ehlers-Danlos disease

Answer 7

Stretchy skin
Unstable joints
Easy bruising

Question 8

What is vitiligo?

Answer 8

Autoimmune destruction of melanocytes leading to depigmentation

Question 9

What is alopecia?

Answer 9

Autoimmune destruction of hair follicles

Question 10

What is psoriasis?

Answer 10

Extreme overproduction of skin cells leading to too much stratum corneum.
Presents with scaly skin

Question 11

What is malignant melanoma?

Answer 11

Malignant cancer in the melanocytes found in the skin

Question 12

What is osteogenesis imperfecta?

Answer 12

Type I collagen deficiency

Question 13

How is osteogenesis imperfecta inherited?

Answer 13

Autosomal dominant

Question 14

How may osteogenesis imperfecta present?

Answer 14

Blue sclera- cornea thins

Multiple fractures leading to bowed long bones

Question 15

What is osteomalacia?

Answer 15

Deficiency of vitamin D in adults

Question 16

What is type I osteoporosis?

Answer 16

Loss of oestrogen due to menopause causing a loss of mediation of osteoclast activity

Question 17

What is type II osteoporosis?

Answer 17

Loss of osteoblast function due to old age

Question 18

What is acromegaly?

Answer 18

Excess GH after puberty leads to increased width of bones

Question 19

What is gigantism?

Answer 19

Excess GH before puberty leading to excessive growth of long bones from the epiphyseal growth plates

Question 20

What is cretinism?

Answer 20

Neonatal hypothyroidism causing retardation and short stature

Question 21

What is achondroplasia?

Answer 21

Deformed fibroblast growth factor leading to early fusion of the epiphyseal growth plates. Causes short stature and an enlarged forehead

Question 22

What is myasthenia gravis?

Answer 22

Autoimmune destruction of endplate ACh receptors

Question 23

How will myasthenia gravis present?

Answer 23

Droopy eyelids
Fatigue
Sudden collapse

Question 24

What is muscular dystrophy?

Answer 24

Absence or truncation of dystrophin

The muscle fibres tear on contraction

Question 25

How is muscular dystrophy inherited?

Answer 25

X-linked recessive

Question 26

What is botulism?

Answer 26

Botulism toxin blocks ACh release to stop muscle contraction

Question 27

What is thyrotoxicosis?

Answer 27

Increased basal metabolic rate leading to protein catabolism and atrophy

Question 28

What is malignant hyperthermia?

Answer 28

Reaction to general anaesthesia causing systemic release of Ca2+ from the SERs There is a huge temperature spike which results in death

Question 29

What is multiple sclerosis?

Answer 29

Autoimmune destruction of myelin sheath and Schwann cells