diseases Flashcards

1
Q

what is cystic fibrosis?

A

a genetic disorder caused by recessive allele but both parents must have it

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2
Q

what happens to individuals with cystic fibrosis but only 1 faulty allele?

A

may not know and are unaffected by it

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3
Q

what part of the body is affected during cystic fibrosis?

A

glands lining the bronchi which produce very thick mucus are affected making it hard to cough up

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4
Q

what is common with cystic fibrosis?

A

respiratory infections and the pancreas is also affected

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5
Q

what are the main treatments of cystic fibrosis?

A

physiotherapy to aid in mucus removal
pancreatic medication
if severe lung transplant

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6
Q

what is sickle cell disease?

A

a disease caused by a defective allele that interferes with normal production of red blood cells which carry oxygen in blood

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7
Q

where is abnormal haemoglobin contained?

A

inside crescent-shaped red blood cells

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8
Q

where does abnormal haemoglobin get stuck?

A

in smaller blood vessels such as capillaries and arterioles

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9
Q

what does sickle cell disease do damage to?

A

body cells which causes intense pain

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10
Q

what is the sickle cell allele?

A

recessive allele

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11
Q

to inherit full sickle cell anaemia what must happen?

A

both parents have to have the recessive allele

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12
Q

what happens if an individual only has 1 recessive allele in sickle cell disease?

A

they will have sickle cell traits in which the individual produces some sickled cells but which contains normal haemoglobin

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13
Q

what are the effects of sickle cell disease?

A

breathlessness
lack of energy
tiredness

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14
Q

what do individuals with sickle cell disease have?

A

an increased risk of stroke and infections

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15
Q

what is Down syndrome caused by?

A

a chromosome mutation resulting form an extra chromosome at 21st pair

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16
Q

what are the effects of downs syndrome?

A
short height 
flattened nose
high cheekbones 
wide hands
folds of skin around upper eyelids 
learning disabilities 
head defects
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17
Q

who is at greater risk of having down syndrome?

A

pregnant women who are older are at higher risk of having babies with down syndrome as their ova is quite old

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18
Q

what does the heart do?

A

forces blood around the body through a system of blood vessels, arteries, veins and capillaries

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19
Q

what does blood carry to body cells?

A

dissolved oxygen

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20
Q

what does hypertension do to the heart?

A

high blood pressure can damage your arteries by making them less elastic decreasing flow of blood and oxygen to the heart

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21
Q

what can hyper tension lead to?

A

heart disease

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22
Q

what is the cause of hyper tension?

A
smoking
overweight
stress
older age
genetics
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23
Q

how is hypertension diagnosed?

A

checking blood pressure

24
Q

what is the effect of hypertension?

A

dangerous complications

death if severe

25
Q

what is the treatment for hypertension?

A

lifestyle changes

medication

26
Q

what does a prenatal test involve?

A

taking a small sample of cells from placenta after 10th week of pregnancy

27
Q

what are the 2 membranes surrounding a developing foetus?

A

chorion and amnion

28
Q

what does chorion have?

A

tiny protuberances known as villi that form part of the placenta

29
Q

what is the placenta located by?

A

ultrasound

30
Q

how is a small sample of villi removed?

A

either via abdominal wall or through cervix

31
Q

once chronic villus sampling has been prepared in the lab what happened?

A

chromosomes can be extracted and paired up to form a karyotype or chromosomal pic

32
Q

what can be offered to parents with chronic villus sampling?

A

correct genetic counselling and parents can be offered a termination to avoid disorders

33
Q

what are the risks of chronic villus sampling?

A

miscarriage

infections

34
Q

what does skin play an important part of?

A

homeostatic regulations of body temp

35
Q

what is the skin part of?

A

NS

36
Q

what is dermis?

A

connective tissue mainly areolar in which blood vessels, nerves, sweat glands, elastic and collagen fibres intermingle

37
Q

what do nerve endings in dermis form?

A

specialised receptors for temperature change, pain, touch and pressure

38
Q

what are hair follicles?

A

extensions of the epidermis

39
Q

where do epidermis run?

A

down into the dermis and produce hairs made of keratin

40
Q

what is attached to the hair follicles?

A

sebaceous glands

41
Q

what coats the surface in hairy parts to assist with water proofing?

A

sebaceous glands

42
Q

what do sweat ducts penetrate?

A

the epidermis as they emerge from the actual sweat gland indermis

43
Q

what is in basal layer?

A

collections of pigment cells known as melanocytes

44
Q

what do melanocytes produce?

A

skin colour

45
Q

what does pigment melanin protect against?

A

damage to deeper structures from ultra-violet light radiation

46
Q

what are 4 major functions of the skin?

A

protect under lying tissues against friction damage
waterproof the body
thermoregulation
protect against ultra-violet radiation

47
Q

what are 4 ways of losing heat from skin?

A

conduction
convection
radiation
evaporation of sweat

48
Q

what is conduction?

A

warming up anything that you are in contact with

49
Q

what is convection?

A

the transfer of heat to the air surrounding the skin

50
Q

what is radiation?

A

heat will pass form your skin to warm up and colder objects around you as well as you can heat up by radiation of hotter objects around you

51
Q

what is evaporation of sweat?

A

when liquid water is converted into water vapour which requires heat energy

52
Q

what are 4 ways of losing heat from your skin?

A

conduction
convection
radiation
sweat evaporation

53
Q

what happens when conduction and convection take place?

A

they can’t be changed significantly to alter body temperature

54
Q

what is normal body temperature?

A

37 degrees Celsius

55
Q

what is heat generated by?

A

metabolic processes taking place in body

56
Q

what is some of the energy always when released during chemical reactions?

A

always heat