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Body logistics > CLINICAL CONDITIONS > Flashcards

CLINICAL CONDITIONS Flashcards

1
Q

What clinical conditions relate to connective tissue issues?

A

Scurvy
Marfan’s syndrome
Osteogenesis imperfecta

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2
Q

What is scurvy due to?

A

Vitamin C deficiency - essential in collagen production to hydroxylation proline + lysine to procollagen

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3
Q

Signs and symptoms of scurvy

A

Think pirates
- gum disease + tooth loss
- bruising
- hair loss
- bleeding from gums
- poor wound healing
- impaired bone development when young

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4
Q

What cause Marfan’s Syndrome?

A

Mutation of fibrillin 1 gene&raquo_space; elastic tissue is abnormal
Autosomal dominant disorder

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5
Q

Signs + symptoms of Marfan’s syndrome

A

Abnormally tall
Arachnodactyly - ‘spider fingers’
Arm span is greater than height
Frequent joint dislocation

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6
Q

What are people with Marfan’s syndrome at risk of?

A

Aortic rupture

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7
Q

What is osteogenesis imperfecta due to?

A

Mutation in col1A or col2A gene
Mutated collagen fibres that don’t cross link/not enough produced
Autosomal dominant

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8
Q

Signs and symptoms of osteogenesis imperfecta

A

Weakened bone - ‘brittle bone disease’
Blue sclera
Spinal curvature
Hyper mobility
Poor teeth development
Shortened height + stature

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9
Q

What is an eptopic pregnancy?

A

When implantation occurs at site other than uterine body often in fallopian tubes

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10
Q

What is placenta praevia?

A

Implantation of zygote in lower uterine segment
Placenta blocks birth canal

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11
Q

Why is a C section required in placenta paraevia?

A

Placenta blocks birth canal
Risk of haemorrhage due to fragile vessels

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12
Q

What is sinus inversus?

A

Developmental disorder in which here is a complete mirror image of organs

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13
Q

What causes sinus inversus?

A
  • Lack of left ward flow of signally molecules in trilamiar disc in gastrulation
  • Signals cannot initiate signalling cascades that correspond for development of left sidedness
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14
Q

What clinical conditions are related to bone diseases?

A

Osteogenesis imperfecta
Rickets + osteomalacia
Osteoporosis
Achondroplasia

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15
Q

What is rickets due to?

A

Vitamin D deficiency - produces calcitriol
Poor calcium mobilisation + ineffective mineralisation
Weakened bone development
In children

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16
Q

Characteristic of rickets

A

Bowed legs

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17
Q

What is osteomalacia?

A

Rickets in adults
Vitamin D deficiency

18
Q

What is hydroxyapatite made of?

A

Calcium

19
Q

What is osteoporosis?

A

A degernative bone disease in which the bone matrix is broken down+ bone demineralises&raquo_space; loss of structural density

20
Q

Causes of osteoporosis

A

Mismatch of osteoblasts and osteoclast numbers
Results in greater rate of bone resorption than bone synthesis

21
Q

Risk factors for osteoporosis

A

Menopause > age
Chronic kidney disease
Corticosteroids
Smoking
Inactivity

22
Q

How is menopause a risk factor for osteoporosis?

A

Decreased oestrogen levels
Oestrogen is protective factor for osteoporosis

23
Q

Outline primary type 1 osteoporosis

A

Post menopausal women
Due to increased osteoclast number
Loss of oestrogen after menopause

24
Q

Outline primary type 2 osteoporosis

A

Occurs in ~70 year old men and women
Due to loss of osteoblast function
Loss of oestrogen and androgen

25
Q

Outline secondary osteoporosis

A

Result of drug therapy - corticosteroids
Steroids use increases osteoclast action + affects calcium excretion
Bone remodelling affected

26
Q

Modifiable risk factors of osteoporosis

A

Increase calcium intake
Exercise
Smoking cessation

27
Q

What is achondroplasia?
What type of inheritance is it?

A

Dwarfism
Autosomal dominant mutation on the FGF3 receptor gene

28
Q

Cause of achondroplasia
What does this cause?

A
  • Inherited mutation on the FGF3 receptor gene
  • FGF promotes collagen formation from cartilage&raquo_space; affects endochondral ossification NOT intra-membranous
  • long bones affected, not flat bones
  • normal sized head + torso but smaller limbs due to inadequate long bone development
29
Q

Characteristics of achondroplasia

A

Short stature
Normal sized head and torso
Long bones cannot lengthen properly

30
Q

What clinical conditions relate to muscle dysfunction?

A

Duchene muscular dystrophy
Rhabdomyolysis
Myocardial infarction
Botulism + organophosphate poisoning
Malignant hypothermia

31
Q

What is the cause of Duchene muscular dystrophy

A

Mutation of the dystrophin gene

32
Q

What does the a mutation in dystrophin cause?

A

Duchene muscular dystrophy
- Excess Ca2+ enters muscle cells
- Ca2+ taken up by mitochondria
- Water taken with it
- Muscle cells burst > Rhabdomyolysis
- High levels of creatine kinase + myoglobin

33
Q

What is botulism toxin and what does it do?

A

Toxin produced by clostridium botulinum
Blocks neurotransmitter release
Causes non-contractile state of skeletal muscle

34
Q

Uses of botulism toxin

A
  • clinically - to treat muscle spasm + urgency UI
  • cosmetically - Botox - to treat wrinkles
35
Q

What is organophosphate and what does it do?

A

A pesticide
Inhibits the normal function of ACh esterase

36
Q

Muscarinic symptoms of organophosphate poisoning

A

SLUDGE
Salivation
Lacrimation
Urination
Defecation
GI cramping
Emesis

37
Q

Nicotinic symptoms of organophosphate poisoning

A

Days of the week MTWTF

Muscle cramps
Tachycardia
Weakness
Twitching
Fasciculations - muscle twitch

38
Q

What causes malignant hypothermia?

A

Mutation in RyR1 receptor

39
Q

What type of inheritance is Marfan’s syndrome

A

Autosomal dominant

40
Q

What type of inheritance is Duchene muscular dystrophy?

A

X linked recessive

41
Q

What type of inheritance is achondroplasia?

A

Autosomal dominant

42
Q

Outline collagen synthesis

A

1- preprocollagen undergoes vit C dependent hydroxylation of proline + lysine
2- precollagen formed - 3 PPC cross linked to form triple helix
3- C and N terminals of PC cleaved
4- tropocollagen formed
5- TP cross link formation
6- microfibrils, fibrils + collagen fibres made

Body logistics (20 decks)

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