Miscellaneous Flashcards

1
Q

Name 5 risk factors for breast cancer

A
  1. Nulliparity
  2. 1st pregnancy >30 y/o
  3. Early menarche
  4. Late menopause
  5. HRT, OCP
  6. Obesity
  7. BRCA genes
  8. Not breastfeeding
  9. Past breast cancer
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2
Q

Why do BRCA genes increase the likelihood of getting breast cancer?

A

They are tumour suppressor genes

5-10% of breast cancer are due to mutations in BRCA1 or BRCA2

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3
Q

What is the most common form of breast cancer?

A

Invasive ductal carcinoma = 70%

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4
Q

Name 4 types of breast cancer

A
  1. Non-invasive ductal carcinoma in situ (DCIS) = premalignant
  2. Non-invasive lobular carcinoma in situ
  3. Invasive ductal carcinoma (70%)
  4. Invasive lobular carcinoma (10-15%)
  5. Medullary cancers (5% - effects younger patients)
  6. Colloid/mucoid cancer (2% - effects elderly)
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5
Q

Is there are better prognosis with breast cancers that are oestrogen receptor positive?

A

YES = better prognosis

60-70% breast cancers are oestrogen receptor positive

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6
Q

Is there are better prognosis with breast cancers that are HER2 positive?

A

HER2 - growth factor receptor gene

If positive = over expression = more aggressive disease with poorer prognosis

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7
Q

Give 4 signs of breast cancer

A
  1. Painless, increasing mass
  2. Nipple discharge
  3. Inversion of nipple
  4. Skin tethering
  5. Ulceration
  6. Oedema/erythema
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8
Q

Give 3 differential diagnosis’s of breast cancer

A
  1. Fibroadenoma
  2. Benign breast cysts
  3. Intraductal papilloma
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9
Q

Define fibroadenoma

A

Benign overgrowth of collagenous mesenchyme of one breast lobule

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10
Q

What is a benign Breast cyst?

A

Palpable, benign, fluid-filled rounded lumps that are not fixed to surrounding tissue

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11
Q

Define intraductal papilloma

A

Benign, warty lesion usually located just behind the aerola

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12
Q

How are breast lumps assessed?

A

Triple assessment

  1. Clinical examination
  2. Histology/cytology = fine needle aspiration (cystic lump) or core biopsy (residual mass or solid lump)
  3. Mammography/USS
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13
Q

What else should be checked if you suspect a patient has breast cancer?

A

Oestrogen receptor, progesterone receptor and human epidermal growth factor (HER2) status

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14
Q

What investigations are done in order to stage breast cancer?

A

CXR
Bone scan
Liver USS
CT/MRI or PET-CT

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15
Q

Describe the staging of breast cancer

A

Stage 1 = Confined to breast, mobile
Stage 2 = Growth confined to breast, mobile, ipsilateral lymph nodes
Stage 3 = Tumour fixed to muscle, ipsilateral lymph nodes matted/fixed, skin involvement larger than tumour
Stage 4 = Complete fixation of tumour to chest wall, distant metastases

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16
Q

Describe the TNM staging of breast cancer

A

T1<2cm, T2 = 2-5cm, T3 >5cm, T4 = fixed to chest wall
N1 = mobile ipsilateral nodes, N2 = fixed nodes
M1 = distant metastases

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17
Q

What is the treatment for stage 1-2 breast cancer?

A
  1. Wide local excision or mastectomy +/- breast reconstruction + axillary node sample/surgical clearance
  2. Radiotherapy after WLE
  3. Adjuvant chemotherapy (epirubicin + CMF - cyclophosphamide, methotrexate + fluorouracil)
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18
Q

What medication can be used in oestrogen and progesterone receptor positive breast cancer?

A

Endocrine agents to decrease oestrogen activity
Post menopausal = tamoxifen (ER blocker) or anastrozole (aromatase inhibitor)
Pre-menopausal = ovarian ablation or GnRH analogues (goserelin)

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19
Q

What is the management for stage 3-4 breast cancer?

A

Radiotherapy for painful bony lesion (+/- bisphosphonates - alendronate)
Tamoxifen for ER +ve
Trastuzumab for HER2 +ve tumour with chemo

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20
Q

Describer the screening programme for breast cancer

A

Biplanar digital mammography every 3 years in women ages 50-70 years old

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21
Q

Define lymphoedema

A

Chronic non-pitting oedema due to lymphatic insufficiency

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22
Q

Name the types of lymphoedema

A
  1. Primary = presents early in life due to inherited deficiency of lymphatic vessels
  2. Secondary = due to obstruction of lymphatic vessels
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23
Q

Give an example of primary lymphoedema

A

Milroy disease

  • autosomal dominat
  • primary congenital lymphoedema so lower leg swelling from brith
  • treatment = compression sticking/bandage and encourage exercise
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24
Q

Give 2 examples of secondary lymphoedema

A
  1. Malignant disease
  2. Post-irradiation therapy
  3. Filarial infection
    - transmitted by mosquito and caused by worms
    - acute infection = fever, lymphadenopathy, chyluria
    - causes elephantiasis
    - treatment = diethylcarbamaxine
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25
Q

Define sarcoma

A

Cancer arising from cells of mesenchymal origin

Malignant tumours of cancellous bone, cartilage, fat, muscle, vascular or haematopoietic tissue

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26
Q

Give 3 examples of soft tissue sarcomas

A

Leiomyosarcoma
GI stromal tumours
Angiosarcoma
Liposarcoma

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27
Q

Describe the epidemiology of soft tissue sarcomas

A

80% of sarcomas

1500/year in UK

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28
Q

Give 2 risk factors for soft tissue sarcomas

A
  1. Neurofibromatosis type 1

2. Previous radiotherapy

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29
Q

Give 2 symptoms of soft tissue sarcomas

A
  1. Painless enlarging mass

2. Pain as lump grows

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30
Q

What is the most common initial place of metastases for a sarcoma?

A

Lung

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31
Q

Name 4 red flags of soft tissue sarcomas

A
  1. > 5cm
  2. Increasing in size
  3. Deep to the deep fascia
  4. Painful
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32
Q

What investigations might you do in someone you suspect to have a soft tissue sarcoma?

A

MRI followed by a needle biopsy

CT thorax for lung metastases

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33
Q

What is the treatment for a soft tissue sarcoma?

A

Excision with wide margin

+ Radiotherapy

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34
Q

Give 3 examples of bony sarcomas

A
  1. Osteosarcoma
  2. Ewing’s sarcoma
  3. Chondrosarcoma
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35
Q

Name 3 bone sarcoma red flags

A
  1. Non mechanical bone pain
  2. Night pain
  3. Palpable bone mass
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36
Q

Name 3 symptoms of a bony sarcoma

A
  1. Non mechanical bone pain
  2. Swelling
  3. Tiredness
  4. Pyrexia
  5. Weight loss
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37
Q

What investigations might you do in someone you suspect to have a bone sarcoma?

A

XR = bone destruction, new bone formation, periosteal swelling and soft tissue swelling
CT/MRI
Bone scans and biopsy

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38
Q

What is the treatment for a bony sarcoma?

A

Wide surgical excision and reconstruction

Chemotherapy +/- radiotherapy

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39
Q

Define amyloidosis

A

Group of disorders characterised by extracellular deposits of an abnormal fibrillar protein (amyloid) that is resistant to degradation

40
Q

How are is amyloidosis classified?

A
  1. AL amyloidosis (primary amyloidosis)
  2. AA amyloidosis (secondary amyloidosis)
  3. Familial amyloidosis (ATTR)
41
Q

Describe the pathophysiology of AL amyloidosis

A

Clonal proliferation of plasma cells –> amyloidogenic light chain protein production and deposition

42
Q

Name 3 conditions AL amyloidosis is associated with

A
  1. Myeloma
  2. Waldenstroms
  3. Non-hodgkin’s lymphoma
43
Q

Give 2 kidney features of AL amyloidosis

A
  1. Proteinuria

2. Nephrotic syndrome

44
Q

Give 3 heart features of AL amyloidosis

A
  1. Restrictive cardiomyopathy
  2. Arrhythmias
  3. Angina
45
Q

Give 3 nerve features of AL amyloidosis

A
  1. Peripheral neuropathy
  2. Autonomic neuropathy
  3. Carpal tunnel syndrome
46
Q

Give 2 gut features of AL amyloidosis

A
  1. Macroglossia
  2. Malabsorption/weight loss
  3. Perforation
  4. Haemorrhage
  5. Obstruction
  6. Hepatomegaly
47
Q

Give a vascular feature of AL amyloidosis

A

Periorbital purpura = characteristic feature

48
Q

What is the treatment for AL amyloidosis?

A

Oral melphalan + prednisolone

OR high dose IV melphalan + autologous peripheral blood stem cell transplant

49
Q

How does melphalan work?

A

Damage DNA within plasma cells –> prevents cell division –> reducing amyloid deposition

50
Q

Describe the pathophysiology of AA amyloidosis

A

Amyloid is derived from serum amyloid A = acute phase protein

51
Q

What conditions does the inflammation of AA amyloidosis reflect?

A

Chronic inflammation

  1. RA
  2. UC/Crohn’s
  3. Chronic infections - TB, bronchiectasis
52
Q

How can AA amyloidosis present?

A

Affect kidney, liver + spleen
Proteinuria
Nephrotic syndrome
Hepatosplenomegaly

53
Q

What is the treatment for AA amyloidosis?

A

Treat underlying condition

54
Q

Describe the pathophysiology of familial amyloidosis

A

Autosomal dominant disease caused by mutations in transthyretin (transport protein produced by liver)
Mutant protein forms amyloid fibrils

55
Q

How does familial amyloidosis present?

A
  1. Sensory or autonomic neuropathy
  2. Cardiomyopathy
  3. Renal involvement
56
Q

What is the treatment for familial amyloidosis?

A

Liver transplant = cure

57
Q

Where is a biopsy taken from when diagnosing amyloidosis?

A

Rectum or subcutaneous fat = relatively non-invasive

58
Q

How is the diagnosis of amyloidosis confirmed?

A

Positive Congo Red staining with red-green birefringence under polarised light microscopy

59
Q

What type of virus is HIV?

A

A RNA retrovirus

HIV1 responsible for most HIV

60
Q

What genus does HIV belong to and what is the significance of this?

A

Lentivirus genus

Characterised by having long incubation periods

61
Q

Briefly describe the mechanism of HIV replication

A
  1. GP120 binds to CD4 receptors
  2. Viral cashed, enzymes and nucleic acids are uncoated and released into the cell
  3. RNA is converted into DNA using reverse transcriptase
  4. Viral DNA is integrated into cellular DNA by integrase
  5. Viral DNA is transcribed into viral proteins
  6. Splicing
  7. New HIV cells ‘bud’ from CD4
62
Q

Name 4 enzymes involved in HIV replications

A
  1. Reverse transcriptase
  2. Integrase
  3. RNA polymerase
  4. Proteases
63
Q

Describe what happens when someone is initially infected with HIV

A

HIV enters via mucosa
Macrophages ingest HIV and presents an epitope of HIV to a T-cell
HIV then infects the T cell
Infection spills into the bloodstream = viraemia

64
Q

What cells act as ‘host cells’ for HIV?

A

CD4+ cells

Macrophages and dendritic cells

65
Q

HIV leads to immune dysfunction, how are the immune system cells affected?

A
  1. CD4 cells are excessively and inappropriately activated
  2. Impaired IL-2 production
  3. Decrease in number and function of CD4 cells
  4. B cells produce fewer specific antibodies
  5. Fewer NK cells, neutrophils and macrophages
66
Q

Name 4 sanctuary sites for HIV

A
  1. Genital tract
  2. GI tract
  3. CNS
  4. Bone marrow
  5. Macrophages and microglia
67
Q

Name 4 groups of people who are at high risk of HIV infection

A
  1. Men who have sex with men
  2. Heterosexual women
  3. IVDU
  4. Sex workers
  5. Truck drivers
68
Q

How can HIV be transmitted?

A
  1. Sexual transmission
  2. Vertical transmission
  3. Contaminated blood, blood producers or organ donation
  4. Contaminated needles
69
Q

What are the 4 main phases in the natural history of HIV?

A
  1. acute primary infection (seroconversion)
  2. Asymptomatic phase
  3. Early symptomatic HIV
  4. AIDS
70
Q

What happens in the acute primary infection phase of HIV?

A

Transient fall in CD4 count followed by a gradual rise

Occurs 2-6 weeks after exposure

71
Q

What signs and symptoms might you see when someone is in the acute primary infection phase of HIV?

A

Abrupt onset of non-specific symptoms

Fever, rash, weight loss, myalgia, lethargy, macuopapular rash (rarely meningoencephalitis)

72
Q

What happens in the asymptomatic phase of HIV?

A

= Clinical latency phase

Progressive loss of CD4 T cells

73
Q

What might happen in the asymptomatic phase of HIV?

A

30% show persistent generalised lymphadenopathy

= nodes >1cm diameter, >2 extra-inguinal sites and >3 months

74
Q

What happens in the early symptomatic phase?

A

Manifestation of clinical features

75
Q

How does the early symptomatic phase present?

A

Fever night sweats, diarrhoea, weight loss
+/- opportunistic infection (oral candida, herpes zoster, recurrent herpes simplex, seborrhoea dermatitis, tinea = AIDS related complex)

76
Q

What is the CD4+ count when some is diagnosed with having AIDS?

A

< 200

77
Q

Name 3 types of people who are likely to rapidly progress and develop AIDS?

A
  1. Elderly people
  2. Children
  3. People with a high viral load
78
Q

Name 2 markers that are used for HIV monitoring?

A
  1. CD4+ count

2. Viral load (RNA concentration)

79
Q

How can HIV be diagnosed?

A

Serum/salivary HIV-Ab by ELISA

Western blot

80
Q

If a HIV test comes back as negative in a high risk individual why should second HIV test be done?

A

As their is a window period = time between potential exposure to HIV infection and point where test will give an accurate result
Test again at 6 weeks and 3 months

81
Q

How can HIV be prevented?

A
  • Education on transmission
  • Increase use of contraception
  • Disposable equipment
  • Antenatal antiretroviral if HIV +ve
  • Pre/post exposure prophylaxis
82
Q

What does HAART stand for?

A

High active anti-retroviral treatment

83
Q

What is HAART and what is its aim?

A

3 drugs are taken together
Aim is reduce viral load and increase CD4+ count
Good compliance = good prognosis

84
Q

What drugs are used in HAART?

A

2 nucleoside reverse transcriptase inhibitors

AND 1 non-nucleoside reverse transcriptase inhibitor OR 1 protease inhibitor

85
Q

Name a nucleoside reverse transcriptase inhibitor

A

Abacavir, didanosine, Emtricitabine

86
Q

Name a non-nucleoside reverse transcriptase inhibitor

A

Efavirenz, etravirine

87
Q

Name a protease inhibitor

A

Atazanavir, darunavir

88
Q

Name 2 other possible drugs that can be used in the treatment of HIV

A
  1. Fusion inhibitors - enfuvirtide

2. Integrase stand transferase inhibitors - raltegravir

89
Q

What are 4 main problems that surround HIV treatment?

A
  1. Mainly transmitted by sexual intercourse and so people don’t like to talk about it - taboo
  2. Period of latency means someone may infect others unwittingly
  3. HIV leads to a weakened immune system and so there is increased risk of infection
  4. HIV mutates a lot and so drug treatment is difficult
90
Q

How would you define a ‘late diagnosis’ of HIV?

A

CD4+ count < 350

91
Q

Name 3 AIDS defining respiratory diseases

A
  1. Pneumocystis pneumonia (PCP)
  2. Bacterial pneumonia
  3. TB
  4. Fungal infections
92
Q

What are the symptoms of Pneumocystis pneumonia (PCP)?

A

Fever, SOB, dry cough, pleuritic chest pain, exertion drop in O2 sats

93
Q

How do you treatment Pneumocystis pneumonia (PCP)?

A

Co-trimoxazole

94
Q

Name 3 AIDS defining CNS diseases

A
  1. CNS lesions = cerebral toxoplasmosis, tuberculoma
  2. Ophthalmic lesions = Cytomegalovirus (CMV), choroidal tuberculosis, toxoplasmosis
  3. Meningitis = pneumococcal, cryptococcal
95
Q

Name 3 AIDS defining neoplasms

A
  1. Lymphoma - non-hodgkin’s or primary CNS
  2. Kaposi’s sarcoma = low grade vascular tumour
  3. Cervical neoplasia