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Flashcards in Week 1 Deck (125)
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1
Q

What surrounds bundles of muscle fibres, entire muscle and individual muscle fibres?

A
  1. Perimysium
  2. Epimysium
  3. Endomysium
2
Q

Give two features of red fibres (type I, slow twitch)?

A
  1. Large mitochondria

2. Increased myoglobin

3
Q

Give two features of white fibres (type II fast twitch)?

A
  1. Small mitochondria

2. Large motor end-plates

4
Q

Why are slow twitch fibres resistant to fatigue?

A

Greater ability to regenerate ATP

5
Q

In type I muscle fibres - what colour is ATPase, pH 9.4?

A

Light

6
Q

In type II muscle fibres - what colour is ATPase pH 9.4?

A

Dark

7
Q

In the histological appearancde of a normal adult quadricep - what appearance is normal?

A

Checkerboard

8
Q

In muscle dystrophies - what level is CK?

A

200-300 times the normal

9
Q

In inflammatory myopathy - what level is CK?

A

20-30 times the normal

10
Q

In neurogenic disorders - what level is CK?

A

2-5 times the normal

11
Q

Give four features of dystrophic muscle changes?

A
  1. Variability in muscle fibre size
  2. Endomysial fibrosis
  3. Fatty infiltration and replacement
  4. Myocyte hypertrophy and fibre splitting
12
Q

What does increased central nuclei, segmental necrosis, regeneration and ring fibres all suggest?

A

Dystrophic changes

13
Q

Are muscular dystrophies inherited?

A

Yes

14
Q

Give the inheritance and muscle affected in - Duchenne (DMD)

A

X-linked recessive

Pelvic girdle

15
Q

Give the inheritance and muscle affected in - Becker (BMD)

A

X-linked recessive

Pelvic girdle

16
Q

Give the inheritance and muscle affected in - Limb girdle (LGMD)

A

Autosomal recessive

Pelvic girdle

17
Q

Give the inheritance and muscle affected in - Fascioscapulohumeral

A

Dominant

Face, shoulder girdle, arm

18
Q

Give the inheritance and muscle affected in - Scapulohumeral

A

Autosomal recessive

Shoulder girdle, arm

19
Q

Give the inheritance and muscle affected in - Oculopharyngeal

A

Dominant

External ocular and pharynx

20
Q

Give the inheritance and muscle affected in - Myotonic dystrophy

A

Dominant

Face, respiratory, limbs

21
Q

Give 4 pathological features of muscular dystrophies?

A
  1. Destruction of single fibres
  2. Prolonged
  3. Regeneration
  4. Fibrosis
22
Q

When is DMD usually diagnosed?

A

2-4 years of age (die at 20)

23
Q

What disease has proximal weakness of quadriceps and pelvic muscles, but pseudohypertrophy of calves - difficulty squatting?

A

DMD

24
Q

Describe the mutation in DMD?

A

Mutations in dystrophin gene on long arm chromosome X

25
Q

What does the dystrophin mutation result in (three things)?

A
  1. Alterations in anchorage of actin cytoskeleton to basement membrane
  2. Fibres liable to tearing
  3. Uncontrolled calcium entry into cells
26
Q

Which disease has a later onset - DMD or Becker?

A

Becke

27
Q

Describe the mutation in Becker MD?

A

Mutation in dystrophin, but lower grade version of DMD

28
Q

What disease involves muscle weakness, myotonia and non-muscle features?

A

Myotonic dystrophy

29
Q

What genes are affected in myotonic dystrophy?

A

Ch19 and Ch3

30
Q

In adolesence myotonic dystrophy affects face and distal limbs - what does it affect later?

A

Respiratory

31
Q

What are these histological features of: atrophy of type I fibres, central nuclei placement, ring fibres - prominent, fibre necrosis and fibrofatty replacement?

A

Myotonic dystrophy

32
Q

Name two inflammatory myopathies that are autoimmune?

A

Polymositis

Dermatomyositis

33
Q

What is a chronic inflammatory disease, more common in women and involves progressive muscular weakness, pain and tenderness?

A

Polymyositis

34
Q

Give three features of polymyositis?

A
  1. Cell-mediated immune response to muscle antigens
  2. Endomysial lymphocytic infiltrate, invasion of muscle by CD8 cells
  3. Segmental fibre necrosis
35
Q

What disease involves skin changes plus polymyositis, upper body erythema, swelling of eyelids with purple discolouration and occurs years/months before first symptoms of cancer?

A

Dermatomyositis

36
Q

Give three pathological features of dermatomyositis?

A
  1. Immune complex and complement deposition within and around capillaries within muscle
  2. Perifascicular muscle fibre injury
  3. B-lymphocytes and CD4 + T cells > cf polymyositis
37
Q

What class of diseases have stereotyped changes after nerve damage with subsequent re-innervation?

A

Neurogenic disorders of muscle

38
Q

What conditions are there histological features of: small, angulated muscle fibres, target fibres, fibre type grouping and grouped atrophy?

A

Neurogenic disorders of muscle

39
Q

What disease has progressive degeneration of anterior horn cells and denervation atrophy, fasciculation and weakness?

A

Motor Neuron Disease

40
Q

What is the gene affected and inheritance of spinal muscular atrophy?

A

Inherited
Autosomal recessive
Ch5

41
Q

What disease has four types, involves denervation of muscle and has degeneration of anterior horn cells in the spinal cord?

A

Spinal muscular atrophy

42
Q

Name the disease that is autoimmune, has weakness, proptosis, fatigue and dysphagia, occurs in women 20-40 and 25% of patients have thymoma?

A

Myasthenia Gravis

43
Q

What disease has breakdown of skeletal muscle including myoblobinuria, hyperkalaemia and necrosis?

A

Rhabdomyolysis

44
Q

Give four outcomes of Rhabdomyolysis?

A
  1. Acute renal failure
  2. Hypovolaemia & hyperkalaemia
  3. Metabolic acidosis
  4. Disseminated intravascular coagulation
45
Q

What variety of disorders are multi-system including joints, skin and subcutaneous tissues, are common in women, immunologicaly abdnormalities are common and they usually respond to anti-inflammatory drugs

A

Connective Tissue Disorders

46
Q

Name a connective tissue autoimmune multisystem disorder?

A

SLE

47
Q

What antibodies are looked for in SLE?

A

Antinuclear antibodies (ANAs)

48
Q

What two drugs may induce SLE?

A

Hydralazine and procainamide

49
Q

Is SLE more common in females or males?

A

9:1 females

50
Q

Name two skin features of SLE?

A
Butterfly rash (sun exposed)
Discoid lupus erythematosus
51
Q

What happens to joints in SLE?

A

Athralgia

52
Q

What happens to kidneys in SLE?

A

Glomerulonephritis

53
Q

In SLE what mediates visceral lesions and haematological effects?

A

Visceral - type III hypersensitvity

Haematological - Type II jhypersensitivity

54
Q

What disease involves inflammation and fibrinoid necrosis of small/medium arteries?

A

PAN

55
Q

What condition gives these clinical features: hypertension, haematuria, abdo pain, malaena, diarrhoea, mononeuritis multiplex, rash, cough and dyspnoea?

A

PAN

56
Q

What two ways is PAN diagnosed?

A
  1. Bipsoy; fibrinoid necrosis of vessels

2. Serum contains pANCA (pericnuclear antineutrophil cytoplasmic autoantibody)

57
Q

What condition is common in elderly women and includes pain, stiffness n shoulder and pelvic girdles?

A

Polymyalgia rheumatica

58
Q

What does polymyalgia rheumatica respond to?

A

Steroids

59
Q

What condition involves inflammation affecting cranial vessels?

A

Temporal arteritis

60
Q

What is there a risk of in temporal arteritis?

A

Blindness of terminal branches of opthalmic artery

61
Q

What condition is also known as giant cell arteritis and can give a headache and scalp tenderness?

A

Temporal arteritis

62
Q

What two methods are used for diagnosing temporal arteritis?

A
  1. Raised ESR

2. Temporal artery biopsy; inflammation +/- giant cells, fragmentation of internal elastic lamina

63
Q

What disease is characterised by excessive fibrosis of organs and tissues (excessive collagen produced)?

A

Scleroderma

64
Q

What is scleroderma associated with?

A
CREST syndrome
Calcinosis
Raynaud's
Esophageal dysfunction
Sclerodactyly
Telangectasia
65
Q

Name 4 benign tumours?

A
  1. Osteochondroma
  2. Chondroma (enchondroma)
  3. Osteoid osteoma
  4. Chondroblastoma
66
Q

What benign tumour is a cartilage capped bony projection arising on external surface of bone containing a marrow cavity that is continuous with that of underlying bone?

A

Osteochondroma

67
Q

Who does osteochondromas affect?

A

Young (

68
Q

Where do osteochondromas tend to develop?

A

Near epiphyses of long bones

69
Q

What benign tumour is a benign hyaline cartilage tumour arising in medullary cavity of bones of hands and feet?

A

Chondroma (enchondroma)

70
Q

What is a single chondroma termed?

A

Ollier’s disease

71
Q

What is a multiple chondromas termed?

A

Mafucci’s syndrome

72
Q

Who is chondromas seen in and who are they more common in - men or women?

A

Young adults

Men

73
Q

What disease has multiple enchondromatosis with soft tissue and visceral haemangiomas?

A

Maffucci’s syndrome

74
Q

What tumour are these 3 histologicaly features of: lobules of varying size, chondrocytes with small, round, pyknotic nuclei inside hyaline cartilage, variable cellularity?

A

Enchondromas

75
Q

What benign tumour is usually found in children/young adults, more common in males and is found in femur, tibia, hands/feet, and axial skeleton?

A

Osteoid osteoma

76
Q

What is an osteoid osteoma composed of?

A

Central core of vascular osteoid tissue and peripheral zone of sclerotic bone

77
Q

What is the clinical picture of an osteoid osteoma?

A

Dull pain worse at night and dissapears within 20-30 minutes of NSAID treatment

78
Q

What is the other name for a benign osteoblastic tumour?

A

Osteoid osteoma

79
Q

What is the classical radiological immage of an osteoid osteoma?

A

Radiolucent nidus surrounded by reactive sclerosis in cortex of bone

80
Q

What is the prognosis of osteoid osteoma?

A

Will resolve without treatment in an average of 33 months

81
Q

What is a rare, benign cartilage tumour arising in bone?

A

Chondroblastoma

82
Q

Where is chondroblastomas found are in what age group?

A

Found at epiphysis of long bones and in second decade of life

83
Q

What is the radiologicaly appearance of a chondrobastoma?

A

Spherical and well-defined osteolytic foci, sometimes extending into hte subarticular bone, joint space or metaphysis

84
Q

Give three histological appearances of chondrobastoma?

A
  1. Closely packed polygonal cells plus areas of immature chondroid
  2. Mitotic activity is low
  3. Distinct cytoplasmic borders with foci of “chicken-wire” calcification
85
Q

How do you treat chondroblastoma?

A

Biopsy and curettage plus adjuvant liquid nitrogen

86
Q

Name three benign but locally aggressive tumours?

A

Giant cell tumour, osteoblastoma, chordoma

87
Q

What is hte cell of origin of giant cell tumour?

A

Osteoclast

88
Q

What age group does giant cell tumours occur in and more common in men or women?

A

25-40

Women

89
Q

Where are giant cell tumours usually located?

A

Long bones, often around the knee

90
Q

Give three radiological appearances of giant cell tumours?

A
  1. Radiolucent with increasing density towards periphery
  2. Destruction of medullary cavity and adjacent cortex
  3. May expand into soft tissue
91
Q

What tumour has a histologicaly appearance of multinucleated giant cells in a sea of round to oval mononuclear cells?

A

Giant cell tumours

92
Q

What tumour is solitary, benign and self-limiting and produces osteoid and bone?

A

Osteoblastoma

93
Q

Where are osteoblastomas found?

A

Metaphysis or diaphysis of long bones

94
Q

What are the common symptoms of osteoblastoma?

A

Pain of long duration, swelling and tenderness

95
Q

Give three histological features of osteoblastoma?

A
  1. Irregular spicules of mineralised bone and osteoid surrounded by osteoblasts
  2. Vascular stroma with pleomorphic spindle cells
  3. Osteoid and woven bone are seen
96
Q

With osteoblastomas - what three surgical resection options are there?

A

Curettage
Intralesional excision
En bloc resection

97
Q

What is a very rare tumour arising from notocord remnants (midline tumour, often sacral region)?

A

Chordoma

98
Q

Who does chordoma occur in and is it more common in males or females?

A

Older adults 40+ and females is more common

99
Q

What do sacrococcygeal tumours present as?

A

Low back pain and bowel/bladder dysfunction

100
Q

Give three macroscopic features of chordoma?

A
  1. Soft, blue-grey, lobulated tumours
  2. Gelatinous translucent areas and often a capsule is present
  3. Lesion often tracks along nerve roots in the sacral plexus or out the sciatic notch in planes of least resistance
101
Q

What does chordoma appear as on x-ray?

A

Solitary mid-line lesion with bony destruction

102
Q

What often accompanies chordoma?

A

Soft tissue mass and present focal calcifications

103
Q

What tumour type has a malignant cell with eosinophilic cytoplasm and prominent vacuoles of mucus push the nuclei to the side?

A

Chordoma

104
Q

3 points on chordoma treatment?

A
  1. Difficult to resect
  2. Radiation may be helpful
  3. Chemotherapy for late stage disease
105
Q

Name three malignant tumours?

A

Osteosarcoma
Chondrosarcoma
Ewing’s sarcoma

106
Q

What is the commonest primary malignant tumour?

A

Osteosarcoma

107
Q

What tumour is related to malignant osteoblasts forming osteoid?

A

Osteosarcoma

108
Q

What is an older patients predisposing condition ot osteosarcoma?

A

Paget’s disease

109
Q

What is the location of osteosarcomas?

A

Ends of long bones particularly distal femur, proximal tibia and proximal humerus

110
Q

In an osteosarcoma - what is essential for diagnosis?

A

Osteoid production

111
Q

Give three histological features of osteosarcoma?

A
  1. Nuclear atypia
  2. Hyperchromasia
  3. High mitotic rate
112
Q

What are the three histological variants of conventional osteosarcoma?

A

Osteoblastic, chondroblastic and fibroblastic

113
Q

What is the second commonest primary malignant tumour of bone?

A

Chondrosarcoma

114
Q

What does chondrosarcoma exhibit and what is it composed of?

A

Exhibits pure hyaline cartilage differentiation

Composed of malignant chondrocytes

115
Q

Give two histological appearqances of chondrosarcoma?

A
  1. Malignant nodules of chondrosarcoma infiltrate between the lamellar bone obliterating the marrow
  2. Seperation of the nodules by fibrous bands would be another feature highly suggestive of malignancy
116
Q

What is the treatment for chondrosarcoma?

A

Wide surgical excision

117
Q

Name a HIGHLY malignant tumour?

A

Ewing’s sarcoma

118
Q

Where does Ewing’s sarcoma mainly occur?

A

In the metaphysis and diaphysis of femur, tibia then humerus

119
Q

What tumour is described by irregular tan to red to brown tumour mass breaking through cortex?

A

Ewing’s sarcoma

120
Q

What is Ewing’s sarcoma histologically?

A

Small round blue cell

121
Q

What are four treatment options for Ewing’s sarcoma?

A
  1. Surgery
  2. Radiation therapy
  3. Chemotherapy with vincristine, dactomycin and cyclophosphamide
  4. Post-operative adjuvant chemotherapy
122
Q

What are the 5 most common metastases of Ewing’s sarcoma?

A
  1. Thyroid
  2. Breast
  3. Lung - small cell
  4. Kidney
  5. Prostate
123
Q

What is the disease called where there is malignant proliferation of plasma cells in bone marrow?

A

Multiple myeloma

124
Q

Whats does multiple myeloma often cause and what does it result in?

A

Renal failure

Bone destruction of axial skeleton

125
Q

What does the presence of Bence-Jones proteins in the urine suggest?

A

Multiple myeloma