B2 Flashcards

1
Q

What does it mean to have a genetic predisposition to a condition?

A

It is the potential higher susceptibility to develop a certain condition due to inherited genes from one or both parents

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2
Q

What is Cystic Fibrosis?

A

Inherited condition
Causes mucus to build in lungs and digestive system
Tested for using newborn screening and heel prick test

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3
Q

Treatment for Cystic Fibrosis

A

Bronchodilators to widen airways
Antibiotics to combat chest infections
Medication to make mucus thinner
Steroid medications to treat growths in nose

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4
Q

What is Brittle Bone Disease?

A

Bones weaker and more fragile
Can be inherited or environmental
Linked to alcohol misuse, low testosterone and hormonal changes in menopause

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5
Q

Treatment for Brittle Bone Disease

A

Bisphosphonates: alendronic acid, ibandromic acid, zoledronic acid
Supplements of calcium and vitamin D
Selective oestrogen receptor modules (help with bone density)

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6
Q

What is Phenylketonuria (PKU)?

A

Can’t break down amino acids that build up in blood and brain
Newborns offered blood spot screening at 5 days old

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7
Q

Treatments for PKU

A

Low protein diet
Amino acid supplements
Medications e.g. sapropterin
Regular blood tests

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8
Q

What is Huntington’s disease?

A

Stops part of the brain working over time
Inherited from parents
Symptoms usually start at 30-50 years old
Fatal after period of up to 20 years

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9
Q

Treatments for Huntington’s disease

A

No cure
Therapies (Occupational, Speech+language, Physiotherapy) to make daily tasks easier
Medicines for depression, mood swings, involuntary movements

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10
Q

What is Klinefelter’s Syndrome?

A

Males born with extra X chromosome
Might have one testical, smaller penis, more breast tissue
May cause health issues like type 2 diabetes or male breast cancer

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11
Q

Treatments for Klinefelter’s syndrome

A

Testosterone replacement therapy
Fertility treatment
Breast reduction surgery

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12
Q

What is Down’s syndrome?

A

Born with an extra chromosome
Usually by change in sperm or egg before birth
Causes varying levels of learning difficulties

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13
Q

Treatments for Down’s Syndrome

A

Physical or occupational therapy
Speech and language therapy

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14
Q

Colour Blindness

A

See colours differently to others and struggle to tell them apart
2 tests:
Colour arrangement
Ishihara test

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15
Q

Treatments for colour blindness

A

Colour blind corrective glasses

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16
Q

What is Duchenne Muscular Dystrophy?

A

Inherited
Muscle weakness
Mostly impacts boys

17
Q

Treatments for Duchenne Muscular Dystrophy

A

No cure
Physiotherapy
Physical aids (e.g. wheelchair)
Steroid medicine - muscle strength
Ataluren for children who can still walk

18
Q

What is cancer?

A

Areas of cells grow and reproduce uncontrollably

19
Q

Treatments for cancer?

A

Chemotherapy
Radiotherapy
Can reduce risk by having healthy lifestyle choices (e.g. exercise, not smoking)

20
Q

What is diabetes?

A

Immune system attacks and destroys cells that produce insulin
Type one- born with it
Type two- developed due to lifestyle

21
Q

Treatments for diabetes

A
22
Q

What are high blood pressure and cholesterol?

A
23
Q

Treatments for high blood pressure/cholesterol

A

Lifestyle changes
Medicines

24
Q

What is foetal alcohol syndrome?

A

When a mother continuously drinks alcohol during pregnancy.
Negatively impacts all PIES.

25
Q

What is Rubella?

A

Causes spotty rash.
When pregnant can impact baby’s heart and cause brain infections.

26
Q

What is Cytomegalovirus?

A

Virus from herpes group.
Can cause hearing loss, visual impairment, learning difficulties and epilepsy in an unborn baby.
Especially dangerous if mother hasn’t had it before.

27
Q

What is the impact of a high fat/sugar diet?

A

Too much saturated fat can increase cholesterol in the blood which increases the likelihood of developing heart disease.
Too much sugary food/drinks can cause weight gain and tooth decay.

28
Q

What is malnutrition?

A

Lack key nutrients (iodine, iron, calcium etc.)
Can cause low birthweight, developmental delays, severe growth restriction, abnormal bone development and mental impairment in children.

29
Q

What is Cerebral Palsy?

A

Lifelong condition which impacts movement and co-ordination.
Caused by problem in brain before, during or soon after birth (e.g. infection in pregnancy)

30
Q

What is Spina Bifida?

A

Baby’s spine and spinal cord don’t develop properly in womb causing a gap.
Type of neural tube defect.
Risk factor = lack of folic acid in early pregnancy