Week 1 Flashcards
1
Q
What surrounds bundles of muscle fibres, entire muscle and individual muscle fibres?
A
- Perimysium
- Epimysium
- Endomysium
2
Q
Give two features of red fibres (type I, slow twitch)?
A
- Large mitochondria
2. Increased myoglobin
3
Q
Give two features of white fibres (type II fast twitch)?
A
- 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
- Variability in muscle fibre size
- Endomysial fibrosis
- Fatty infiltration and replacement
- 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
- Destruction of single fibres
- Prolonged
- Regeneration
- 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
What does the dystrophin mutation result in (three things)?
1. Alterations in anchorage of actin cytoskeleton to basement membrane
2. Fibres liable to tearing
3. Uncontrolled calcium entry into cells
26
Which disease has a later onset - DMD or Becker?
Becke
27
Describe the mutation in Becker MD?
Mutation in dystrophin, but lower grade version of DMD
28
What disease involves muscle weakness, myotonia and non-muscle features?
Myotonic dystrophy
29
What genes are affected in myotonic dystrophy?
Ch19 and Ch3
30
In adolesence myotonic dystrophy affects face and distal limbs - what does it affect later?
Respiratory
31
What are these histological features of: atrophy of type I fibres, central nuclei placement, ring fibres - prominent, fibre necrosis and fibrofatty replacement?
Myotonic dystrophy
32
Name two inflammatory myopathies that are autoimmune?
Polymositis
| Dermatomyositis
33
What is a chronic inflammatory disease, more common in women and involves progressive muscular weakness, pain and tenderness?
Polymyositis
34
Give three features of polymyositis?
1. Cell-mediated immune response to muscle antigens
2. Endomysial lymphocytic infiltrate, invasion of muscle by CD8 cells
3. Segmental fibre necrosis
35
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?
Dermatomyositis
36
Give three pathological features of dermatomyositis?
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
What class of diseases have stereotyped changes after nerve damage with subsequent re-innervation?
Neurogenic disorders of muscle
38
What conditions are there histological features of: small, angulated muscle fibres, target fibres, fibre type grouping and grouped atrophy?
Neurogenic disorders of muscle
39
What disease has progressive degeneration of anterior horn cells and denervation atrophy, fasciculation and weakness?
Motor Neuron Disease
40
What is the gene affected and inheritance of spinal muscular atrophy?
Inherited
Autosomal recessive
Ch5
41
What disease has four types, involves denervation of muscle and has degeneration of anterior horn cells in the spinal cord?
Spinal muscular atrophy
42
Name the disease that is autoimmune, has weakness, proptosis, fatigue and dysphagia, occurs in women 20-40 and 25% of patients have thymoma?
Myasthenia Gravis
43
What disease has breakdown of skeletal muscle including myoblobinuria, hyperkalaemia and necrosis?
Rhabdomyolysis
44
Give four outcomes of Rhabdomyolysis?
1. Acute renal failure
2. Hypovolaemia & hyperkalaemia
3. Metabolic acidosis
4. Disseminated intravascular coagulation
45
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
Connective Tissue Disorders
46
Name a connective tissue autoimmune multisystem disorder?
SLE
47
What antibodies are looked for in SLE?
Antinuclear antibodies (ANAs)
48
What two drugs may induce SLE?
Hydralazine and procainamide
49
Is SLE more common in females or males?
9:1 females
50
Name two skin features of SLE?
```
Butterfly rash (sun exposed)
Discoid lupus erythematosus
```
51
What happens to joints in SLE?
Athralgia
52
What happens to kidneys in SLE?
Glomerulonephritis
53
In SLE what mediates visceral lesions and haematological effects?
Visceral - type III hypersensitvity
| Haematological - Type II jhypersensitivity
54
What disease involves inflammation and fibrinoid necrosis of small/medium arteries?
PAN
55
What condition gives these clinical features: hypertension, haematuria, abdo pain, malaena, diarrhoea, mononeuritis multiplex, rash, cough and dyspnoea?
PAN
56
What two ways is PAN diagnosed?
1. Bipsoy; fibrinoid necrosis of vessels
| 2. Serum contains pANCA (pericnuclear antineutrophil cytoplasmic autoantibody)
57
What condition is common in elderly women and includes pain, stiffness n shoulder and pelvic girdles?
Polymyalgia rheumatica
58
What does polymyalgia rheumatica respond to?
Steroids
59
What condition involves inflammation affecting cranial vessels?
Temporal arteritis
60
What is there a risk of in temporal arteritis?
Blindness of terminal branches of opthalmic artery
61
What condition is also known as giant cell arteritis and can give a headache and scalp tenderness?
Temporal arteritis
62
What two methods are used for diagnosing temporal arteritis?
1. Raised ESR
| 2. Temporal artery biopsy; inflammation +/- giant cells, fragmentation of internal elastic lamina
63
What disease is characterised by excessive fibrosis of organs and tissues (excessive collagen produced)?
Scleroderma
64
What is scleroderma associated with?
```
CREST syndrome
Calcinosis
Raynaud's
Esophageal dysfunction
Sclerodactyly
Telangectasia
```
65
Name 4 benign tumours?
1. Osteochondroma
2. Chondroma (enchondroma)
3. Osteoid osteoma
4. Chondroblastoma
66
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?
Osteochondroma
67
Who does osteochondromas affect?
Young (
68
Where do osteochondromas tend to develop?
Near epiphyses of long bones
69
What benign tumour is a benign hyaline cartilage tumour arising in medullary cavity of bones of hands and feet?
Chondroma (enchondroma)
70
What is a single chondroma termed?
Ollier's disease
71
What is a multiple chondromas termed?
Mafucci's syndrome
72
Who is chondromas seen in and who are they more common in - men or women?
Young adults
| Men
73
What disease has multiple enchondromatosis with soft tissue and visceral haemangiomas?
Maffucci's syndrome
74
What tumour are these 3 histologicaly features of: lobules of varying size, chondrocytes with small, round, pyknotic nuclei inside hyaline cartilage, variable cellularity?
Enchondromas
75
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?
Osteoid osteoma
76
What is an osteoid osteoma composed of?
Central core of vascular osteoid tissue and peripheral zone of sclerotic bone
77
What is the clinical picture of an osteoid osteoma?
Dull pain worse at night and dissapears within 20-30 minutes of NSAID treatment
78
What is the other name for a benign osteoblastic tumour?
Osteoid osteoma
79
What is the classical radiological immage of an osteoid osteoma?
Radiolucent nidus surrounded by reactive sclerosis in cortex of bone
80
What is the prognosis of osteoid osteoma?
Will resolve without treatment in an average of 33 months
81
What is a rare, benign cartilage tumour arising in bone?
Chondroblastoma
82
Where is chondroblastomas found are in what age group?
Found at epiphysis of long bones and in second decade of life
83
What is the radiologicaly appearance of a chondrobastoma?
Spherical and well-defined osteolytic foci, sometimes extending into hte subarticular bone, joint space or metaphysis
84
Give three histological appearances of chondrobastoma?
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
How do you treat chondroblastoma?
Biopsy and curettage plus adjuvant liquid nitrogen
86
Name three benign but locally aggressive tumours?
Giant cell tumour, osteoblastoma, chordoma
87
What is hte cell of origin of giant cell tumour?
Osteoclast
88
What age group does giant cell tumours occur in and more common in men or women?
25-40
| Women
89
Where are giant cell tumours usually located?
Long bones, often around the knee
90
Give three radiological appearances of giant cell tumours?
1. Radiolucent with increasing density towards periphery
2. Destruction of medullary cavity and adjacent cortex
3. May expand into soft tissue
91
What tumour has a histologicaly appearance of multinucleated giant cells in a sea of round to oval mononuclear cells?
Giant cell tumours
92
What tumour is solitary, benign and self-limiting and produces osteoid and bone?
Osteoblastoma
93
Where are osteoblastomas found?
Metaphysis or diaphysis of long bones
94
What are the common symptoms of osteoblastoma?
Pain of long duration, swelling and tenderness
95
Give three histological features of osteoblastoma?
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
With osteoblastomas - what three surgical resection options are there?
Curettage
Intralesional excision
En bloc resection
97
What is a very rare tumour arising from notocord remnants (midline tumour, often sacral region)?
Chordoma
98
Who does chordoma occur in and is it more common in males or females?
Older adults 40+ and females is more common
99
What do sacrococcygeal tumours present as?
Low back pain and bowel/bladder dysfunction
100
Give three macroscopic features of chordoma?
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
What does chordoma appear as on x-ray?
Solitary mid-line lesion with bony destruction
102
What often accompanies chordoma?
Soft tissue mass and present focal calcifications
103
What tumour type has a malignant cell with eosinophilic cytoplasm and prominent vacuoles of mucus push the nuclei to the side?
Chordoma
104
3 points on chordoma treatment?
1. Difficult to resect
2. Radiation may be helpful
3. Chemotherapy for late stage disease
105
Name three malignant tumours?
Osteosarcoma
Chondrosarcoma
Ewing's sarcoma
106
What is the commonest primary malignant tumour?
Osteosarcoma
107
What tumour is related to malignant osteoblasts forming osteoid?
Osteosarcoma
108
What is an older patients predisposing condition ot osteosarcoma?
Paget's disease
109
What is the location of osteosarcomas?
Ends of long bones particularly distal femur, proximal tibia and proximal humerus
110
In an osteosarcoma - what is essential for diagnosis?
Osteoid production
111
Give three histological features of osteosarcoma?
1. Nuclear atypia
2. Hyperchromasia
3. High mitotic rate
112
What are the three histological variants of conventional osteosarcoma?
Osteoblastic, chondroblastic and fibroblastic
113
What is the second commonest primary malignant tumour of bone?
Chondrosarcoma
114
What does chondrosarcoma exhibit and what is it composed of?
Exhibits pure hyaline cartilage differentiation
| Composed of malignant chondrocytes
115
Give two histological appearqances of chondrosarcoma?
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
What is the treatment for chondrosarcoma?
Wide surgical excision
117
Name a HIGHLY malignant tumour?
Ewing's sarcoma
118
Where does Ewing's sarcoma mainly occur?
In the metaphysis and diaphysis of femur, tibia then humerus
119
What tumour is described by irregular tan to red to brown tumour mass breaking through cortex?
Ewing's sarcoma
120
What is Ewing's sarcoma histologically?
Small round blue cell
121
What are four treatment options for Ewing's sarcoma?
1. Surgery
2. Radiation therapy
3. Chemotherapy with vincristine, dactomycin and cyclophosphamide
4. Post-operative adjuvant chemotherapy
122
What are the 5 most common metastases of Ewing's sarcoma?
1. Thyroid
2. Breast
3. Lung - small cell
4. Kidney
5. Prostate
123
What is the disease called where there is malignant proliferation of plasma cells in bone marrow?
Multiple myeloma
124
Whats does multiple myeloma often cause and what does it result in?
Renal failure
| Bone destruction of axial skeleton
125
What does the presence of Bence-Jones proteins in the urine suggest?
Multiple myeloma
