Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Therapeutic Nursing > Genetic conditions > Flashcards

Genetic conditions Flashcards

You may prefer our related Brainscape-certified flashcards:
Nursing Mental Health flashcards Nursing Management of Care flashcards NCLEX-PN® flashcards NCLEX-RN® flashcards Nursing Fundamentals flashcards Nursing Pediatrics flashcards Nursing Safety & Infection flashcards Nursing Pharmacology flashcards Nursing Maternity flashcards Family Nurse Practitioner (FNP) flashcards
1
Q

How many genetic conditions are estimated to exist?

A

4000-6000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is defined as a ‘rare disease’ in the UK?

A

one that affects 1 in 2,000 or less of the population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

How many people in the UK will be affected by a rare disease at some point in their life?

A

1 in 17 (3 million)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What percentage of newly diagnosed cases of rare diseases are in children?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How many different rare diseases exist?

A

5000-8000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What percentage of rare diseases have a known genetic origin?

A

80%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is genetic counselling?

A

a role that is developing alongside those within genetics

supports patients and families in understanding their health and the impact genetics may have on treatment options

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is CRISPR-Cas9?

A

a genome editing tool that allows the removal and replacement of certain DNA
used in personalised medicine to advance patient care and even cure inherited diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What does CRISPR stand for?

A

clustered regularly interspaced short palindromic repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the two components of CRISPR?

A

Cas9 protein - cuts DNA

guide RNA - recognises the DNA sequence to be edited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the stages involved in the use of CRISPR-Cas9?

A

(1) scientists identify the sequence of the human genome that causes a health problem
(2) scientists create a specific guide RNA (gRNA) to recognise the DNA sequence
(3) gRNA is attached to Cas9 and the complex is introduced to the target cells
(4) it locates the target letter sequence and cuts the DNA
(5) at this point, scientists can edit the existing genome by modifying/deleting/inserting new sequences

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the two types of mutations?

A

germline - occur in sperm and egg cells and inherited from the mother or father
somatic - occur in any other cell type and not inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

When mutated, which genes are involved in the development of breast cancer?

A

BRCA1 (chromosome 17) and BRCA2 (chromosome 13)

usually inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What does BRCA stand for?

A

breast cancer suppressor gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Besides breast cancer, BRCA mutations are linked to an increased risk of which other cancers?

A

ovarian, pancreatic, prostate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Who should be made aware of and undergo genetic testing?

A

strong family history of cancer

a relative with a known BRCA mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Why is it important to know your BRCA-mutation status?

A

patient can make an informed decision and proactively address cancer risk and the risk to family members as well as any future treatment decisions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the two types of test to detect a BRCA mutation?

A

(1) blood/saliva - to examine the presence of germline mutations
(2) tumour testing - breast biopsy to examine the presence of germline and somatic mutations (unidentifiable in a blood/saliva test)

19
Q

What factors need to be considered before a patient undergoes genetic testing?

A

risks and benefits (many implications of knowing genetic status)

20
Q

How many genes have been identified as being potentially involved in the development of multiple sclerosis?

A

over 200

21
Q

Why is MS not passed directly from parents to children?

A

it is not caused by a single gene

22
Q

What is the chance of a person developing MS if they have one parent with MS?

A

1 in 67

23
Q

What is the chance of a person developing MS if they have a sibling with MS?

A

1 in 37

24
Q

What is the chance of a person developing MS if they have an identical twin with MS?

A

1 in 5

25
Q

What proportion of the population have inherited familial hypercholesterolaemia (FH)?

A

1 in 250

26
Q

What causes FH?

A

the sufferer inherits a gene mutation in the LDL receptor from one parent

27
Q

What is homozygous FH?

A

the sufferer inherits the gene mutation from both parents

more severe form of FH

28
Q

What factors could suggest a diagnosis of FH?

A

total cholesterol level >7.5 mmol/L (should have fasting blood test to measure LDL cholesterol)
family history of heart attack under the age of 60

29
Q

What lifestyle factors can help to reduce cholesterol levels?

A

heart healthy diet
regular exercise
maintain a healthy weight
avoid smoking

30
Q

Why are statins the first-line treatment for most patients with FH?

A

safe and effective

slow down cholesterol production

31
Q

What treatment is available for patients who do not respond to the best available medication?

A

injectable therapies

32
Q

What treatment is available for patients with homozygous FH?

A

medication to slow down LDL production

33
Q

How many genetic mutations have researchers found to occur commonly in patients with rheumatoid arthritis (RA)?

A

over 100

34
Q

Which two genes are particularly associated with RA?

A

HLA-DRB1 gene and protein tyrosine phosphatase 22 (PTPN22) gene

35
Q

What is the HLA-DRB1 gene?

A

the strongest known genetic risk factor for RA
there are many different variants of this gene and several are associated with an increased risk of RA
some evidence of an interaction between certain variants of the gene and environmental factors
the risk of developing RA is increased in smokers and who also have certain high risk HLA-DRB1 variants

36
Q

What is the PTPN22 gene?

A

unclear exactly how this gene predisposes to autoimmune disease
known to be associated with an increased risk of developing RA

37
Q

What is the prevalence of cystic fibrosis (CF) in the UK?

A

10,500

38
Q

What proportion of people carry the gene for CF with no symptoms?

A

1 in 25

39
Q

What is the chance of being born with CF if both your parents carry the gene?

A

1 in 4

40
Q

What causes CF?

A

a faulty gene that disrupts the movement of salt and water in cells
this makes mucus thicker and stickier
sticky mucus affects lungs and digestive system
airways become clogged up with mucus causing infection and damage over time

41
Q

What are some of the main symptoms of CF?

A 
frequent chest infections
severe coughs
shortness of breath
abnormal bowel movements
difficulty gaining weight
infertility (for most men)
42
Q

Why should people with CF never meet each other?

A

infections that are transmitted between people with CF cause illness

43
Q

What is the treatment for CF?

A

medication (sometimes more than 40 tablets per day) - to thin mucus
antibiotics - to kill bacterial infections in the lungs
enzyme capsules - to take with food
high-fat diet - to ensure the body receives sufficient nutrients
physiotherapy - to move the mucus that builds up around the organs
lung transplant - if conventional treatments are no longer effective

44
Q

What causes Crohn’s disease?

A

a combination of genetic, environmental, and lifestyle factors, many of which are unknown
many genes related to the disease, including NOD2, ATG16L1, IL23R, and IRGM, are located on chromosomes 5 and 10, which are involved in immunity
not inherited but appears to run in some families (present in more than one relative in 15% of cases)

Therapeutic Nursing (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions