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Pathology Flashcards

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1
Q

what are the types of skeletal muscle fibres

A

Red fibres i.e. Type 1, slow twitch.
- large mitochondria and increase myoglobin

White fibres i.e. Type 2, fast twitch
- small mitochondria and large motor end plates

Intermediate fibres

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2
Q

what are indications for muscle biopsy

A

evidence of muscle disease (elevated CK, weakness)
Presence of neuropathy
Presence of vascular disorder (vasculitis)

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3
Q

when are CK levels 20-30 times of normal

A

inflammatory myopathy

intermediate levels of CK

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4
Q

what are changes seen in muscles with dystrophic diseases

A 
variability in muscle fibre size
endomysial fibrosis
fatty infiltration and replacement
myocyte hypertrophy 
Increased central nuclei
Segmental necrosis
Regeneration
Ring fibres- condensation
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5
Q

what are common muscular dystrophies and what do they affect

A

Duchenne - pelvic girdle
Becker - pelvic girdle
Limb girdle - pelvic girdle
Myotonic dystrophy - face, respiratory, limbs

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6
Q

typical case of DMD

A

present in boys 2-4 years of age
proximal weakness
pseudo hypertrophy of calves
very raised levels of CK

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7
Q

where is the mutation in DMD and what does it cause

A

in dystrophin gene on long arm chromosome X
causes alterations in anchorage of actin cytoskeleton basement membrane
fibres liable to tearing
uncontrolled calcium entry into cells

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8
Q

what are the characteristics of BMD

A

later onset and milder symptoms that DMD
mutations in the dystrophin gene
slower progress, not as severe as DMD
more calf enlargement

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9
Q

what are the features of Myotonic dystrophy

A

Muscle weakness, myotonia, non-muscle features
Most common dystrophy to affect adults
Adolescence – face predominantly affected, distal limbs
Later – respiratory muscles most affected

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10
Q

what are examples of inflammatory myopathies

A

infective agents
polymyositis
dermatomyositis

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11
Q

what is polymyositis

A

chronic inflammatory disease

progressive muscular weakness, pain and tenderness

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12
Q

pathology of polymyositis

A

Cell-mediated immune response to muscle antigens
Endomysial lymphocytic infiltrate, invasion of muscle by CD8 + T lymphocytes
Segmental fibre necrosis

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13
Q

what is dermatomyositis

A

skin changes plus polymyositis
upper body erythema
swelling of eyelids with purple discolouration

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14
Q

pathology of dermatomyositis

A

Immune complex and complement deposition within and around capillaries within muscle
Perifascicular muscle fibre injury
B-lymphocytes and CD4 + T cells > cf polymyositis

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15
Q

what is Motor Neuron Disease

A

progressive degeneration of anterior horn cells

Denervation atrophy, fasciculation and weakness

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16
Q

what is spinal muscular atrophy

A

inherited; autosomal recessive
Degeneration of anterior horn cells in spinal cord
Denervation of muscle
Types 1 - 4

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17
Q

features of myasthenia graves

A

Autoimmune
Weakness, proptosis, fatigue, and dysphagia
Women between 20 - 40

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18
Q

what is rhabdomyolysis

A

breakdown of skeletal muscle

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19
Q

what antibodies are associated with SLE

A

Antinuclear antibodies (ANAs)

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20
Q

symptoms/signs of SLE

A

Skin –“butterfly” rash (sun exposed areas), discoid lupus erythematosus (DLE)

Joints – arthralgia

Kidneys – glomerulonephritis

CNS – psychiatric symptoms, focal neurological symptoms

CVS – pericarditis, myocarditis, necrotising vasculitis

Lymphoreticular – lymphadenopathy & splenomegaly

Lungs – pleuritis, pleural effusions

Haematological – anaemia, leucopenia, thrombophilia

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21
Q

what hypersensitivity is responsible for SLE symptoms

A

Visceral lesions – mediated by Type III hypersensitivity

Haematological effects – mediated by Type II hypersensitivity

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22
Q

what is Polyarteritis nodosa

A

Inflammation and fibrinoid necrosis of small/medium arteries

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23
Q

symptoms and signs of PAN

A

Non-specific +/- organ specific features such as hypertension, haematuria, abdominal pain, melaena, diarrhoea, mononeuritis multiplex, rash, cough, dyspnoea

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24
Q

investigation/diagnosis of PAN

A

Biopsy; fibrinoid necrosis of vessels

Serum contains pANCA (perinuclear antineutrophil cytoplasmic autoantibody)

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25
features of PMR
elderly pain, stiffness in shoulder and pelvic girdles no muscle weakness responds to corticosteroids
26
features of Temporal arteritis
a.k.a GCA inflammation affecting cranial vessels Risk of blindness of terminal branches of opthalmic artery affected Headache & scalp tenderness
27
diagnosis of temporal arteritis
raised ESR | temporal artery biopsy; inflammation +/- giant cells
28
what is scleroderma
Excessive fibrosis of organs and tissues (excessive collagen production)
29
symptoms/signs of scleroderma
Skin – tight, tethered, ↓ joint movement GI tract – fibrous replacement of muscularis Heart – pericarditis and myocardial fibrosis Lungs – interstitial fibrosis Kidneys – affects arteries, leads to hypertension Musculoskeletal system – polyarteritis and myositis
30
what is scleroderma associated with
``` CREST syndrome Calcinosis Raynaud’s Esophageal dysfunction Sclerodactyly Telangiectasia ```
31
what can kill in scleroderma
Renal failure secondary to malignant hypertension Sever respiratory compomise Cor pulmonale Cardiac failure or arrhythmias secondary to myocardial fibrosis
32
what are the benign tumours of MSK
Osteochondroma Chondroma Osteoid osteoma Chondroblastoma
33
what is osteochondroma
Cartilage capped bony projection arising on external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
34
features of osteochondroma
affects the young M = F tend to develop near epiphyses of long bones cell of origin - chondrocytes
35
what is a chondroma
Benign hyaline cartilage tumour arising in medullary cavity of bones of hands and feet
36
what are the two types of chondroma
Single or multiple (Ollier’s disease and Mafucci’s syndrome)
37
what is Ollier's disease
Rare developmental disorder Enchondromas (metaphyses and diaphyses) Typically unilateral and involving one extremity
38
what is Maffucci's syndrome
Multiple enchondromatosis with soft tissue and visceral haemangiomas greater malignant risk than Ollier's
39
what is an osteoid osteoma
benign osteoblastic tumour composed of a central core of vascular osteoid tissue and a peripheral zone of sclerotic bone
40
features of osteoid osteoma
Benign - usually found in children and young adults Found in femur, tibia, hands/feet, and axial skeleton (spine) resolve w/out tx in average of 33 months
41
symptoms of osteoid osteoma
``` joint tenderness swelling synovitis dull pain worse at night pain relieved by aspirin and NSAIDs ```
42
what are chondroblastoma
Benign cartilage tumour arising in bone
43
what are features of chondroblastoma
found at epiphysis of long bones | 20-30 y/o
44
histology of chondroblastoma
Closely packed polygonal cells plus areas of immature chondroid. Mitotic activity is low. Distinct cytoplasmic borders with foci of “chicken-wire” calcification.
45
tumours that are benign but locally aggressive
Giant cell tumour Osteoblastoma Chordoma
46
features of giant cell tumour
cell of origin - osteoclast | site - long bones, often around knee
47
radiology of giant cell tumour
Radiolucent with increasing density towards periphery. Destruction of medullary cavity and adjacent cortex. May expand into soft tissue - locally aggressive
48
what are Osteoblastoma
Solitary, benign and self-limited tumour that produces osteoid and bone but can damage surrounding structures
49
where are osteoblastomas found and what are the symptoms
metaphysis or diaphysis of long bones | pain of long duration, swelling, tenderness
50
treatment of osteoblastomas
surgical resection by- - curettage - intralesional excision
51
features of chordoma
Very rare tumour arising from notocord remnants (midline tumour, often in sacral region) 40+ years Benign but locally destructive and invasive - due to areas affected can cause spinal problems and symptoms
52
where do macroscopic tumours grow
often tracks along nerve roots in the sacral plexus or out the sciatic notch in planes of least resistance
53
malignant MSK tumours
Osteosarcoma Chondrosarcoma Ewing’s sarcoma
54
what is the commonest primary malignant tumour
osteosarcoma
55
features of osteosarcoma
Malignant osteoblasts forming osteoid | Young adults; 60%
56
sites of osteosarcoma
Ends of long bones particularly distal femur, proximal tibia, and proximal humerus
57
osteosarcomas grow slowly - true or false
false | Rapid growth; mitotically active - patients may well already have metastasise when they present
58
what is Codman's triangle
raised triangle seen in aggressive bone lesions e.g. osteosarcoma, Ewing sarcoma
59
osteosarcoma treatment
Biopsy, CT, bone scan Pre-operative chemotherapy Surgical resection Post-operative chemotherapy
60
what is a chondrosarcoma
The second commonest primary malignant tumour of bone Exhibits pure hyaline cartilage differentiation Composed of malignant chondrocytes can extend into soft tissue
61
treatment of chondrosarcoma
Wide surgical excision - best option, but often impossible due to location of tumour Limited use of chemotherapy and radiotherapy
62
features of Ewing's sarcoma
highly malignant Mainly occurs in the metaphysis and diaphysis of femur, tibia, then humerus. Most common in second decade of life.
63
how does Ewing's sarcoma appear histologically
small round blue cell
64
treatment of Ewing's sarcoma
surgery radiation therapy chemotherapy
65
what cancers commonly cause bony mets
thyroid, breast, lung, kidney, prostate
66
what is multiple myeloma
Malignant proliferation of plasma cells in bone marrow
67
what does multiple myeloma often cause
renal failure | destruction of axial skeleton

MSK SB (15 decks)

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