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MSK > Pathology > Flashcards

Pathology Flashcards

1
Q

collagen affected in Ehlors Danlos syndrome

A

type 3 (III) collagen

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2
Q

features of Ehlors Danlos syndrome

A

increased skin elasticity
hypermobility of joints
subarachnoid haemorrhage
easily bruised
mitral valve prolapse, aortic regurgitation, aortic dissection
angioid retinal streaks

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3
Q

collagen affected in osteogenesis imperfecta

A

type I collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen peptides

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4
Q

Ehlors-danlos syndrome - autosomal dominant or recessive?

A

dominant

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5
Q

osteogenesis imperfecta - autosomal dominant or recessive

A

dominant

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6
Q

what are does the bloods show in osteogenesis imperfecta?

A

calcium, phosphate, PTH and ALP are all normal

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7
Q

features of osteogenesis imperfecta

A

easily broken bones
blue sclera
deafness due to otosclerosis
dental imperfections

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8
Q

what is acquired ichthyosis?

A

acquired skin condition where the skin is dry and scaly - derived from greek word meaning ‘fish’ as it is like fish scales

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9
Q

causes of acquired ichthyosis

A

lymphoma i.e. hodgkins
malnutrition
leprosy
kaposi’s sarcoma

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10
Q

features associated with ankylosing spondylitis

A

the 6 A’s;
anterior uveitis
apical fibrosis
achillies tendonitis
amyloisosi
AV node block
aortic regurgitation
and cauda equina syndrome
peripheral arthritis (in females)

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11
Q

how does ankylosing spondylitis present ?

A

young adult male with stiff/painful lower back of insiduous onset
worse in the morning, eases with exercises
pain at night relieved with getting up

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12
Q

benign bone tumours

A

osteoma
osteochondroma
giant cell tumour

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13
Q

xray appearance of giant cell tumour

A

double bubble or soap bubble appearance

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14
Q

most common location of giant cell tumour

A

epiphysis of long bones

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15
Q

most common location of osteoma

A

skull

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16
Q

most common location of osteochondroma

A

Metaphysis of long bones

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17
Q

what bone tumour is associated with onion skin appearance ?

A

ewings sarcoma

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18
Q

x ray features of osteosarcoma

A

codmans triangle (due to periosteal elevation)
sunburst pattern

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19
Q

risk factors for osteosarcoma

A

pagets disease
radiotherapy
Rb gene (hence association with retinoblastoma)

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20
Q

genetic defect associated with ewings sarcoma

A

associated with T(11:22) translocation which results in EWS-FLI1 gene

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21
Q

what bone tumour is a small blue cell tumour?

A

ewings sarcoma

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22
Q

antibodies associated with dermatomyositis

A

anti-jo (histadine tRNA ligase)
anti-mi 2
anti-signal regognition peptide (SRP)

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23
Q

risk factors for gout

A

increased production:
- myeloproliferative/ lymphoproliferative disorders
- cytotoxic drugs
- severe psoriasis
- red meat

decreased excretion:
- chronic kidney disease
- drugs i.e. diuretics
- lead toxicity

both:
- alcohol
- obesity

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24
Q

features of langerhans cell histocytosis

A

punched out osteolytic lesions

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25
Q

biopsy feature of langerhan cell histocytosis

A

CD1a and S100 protein
grooved nuclei

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26
Q

what is langerhan cell histocytosis

A

over proliferation of langerhan cells which are specialised dentritic cells which present antigens to T lymphocytes

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27
Q

genetic defect in marfans syndrome

A

mutation of FBN1 gene on chromosome 15 that codes for protein fibrilin 1

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28
Q

xray findings in osteoarthritis

A

reduced joint space
subchodnral cysts
subchondral sclerosis
osteophytes

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29
Q

xray findings in rhuematoid arthritis

A

loss of joint space
juxta-articular osteoporosis
periarticular erosions
subluxation

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30
Q

most important risk factors for osteoporosis

A

steroid therapy
history of parental hip fracture
rheumatoid arthritis
low BMI
current smoker
alcohol excess

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31
Q

drugs that can worsen osteoporosis

A

SSRI’s
PPI’s
antiepileptics
long term heparin therapy
glitazones
aromatase inhibitors i.e. anastrazole

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32
Q

what causes pellagra ?

A

niacin deficiency

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33
Q

features of pellagra

A

the 3 D’s
Dermatitis
Diarrhoea
Dementia

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34
Q

risk factors for pellagra

A

isoniazid therapy
alcoholics

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35
Q

pathophysiology of pemphigus vulgaris

A

autoimmune caused by an antibody against desmoglein-3

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36
Q

what population is pemphigus more common in ?

A

ashkenazi jewish

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37
Q

what is nikolsky’s sign and what condition is it associated with?

A

pemphigus
- spread of bullae after applying horizontal, tangential pressure to the skin

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38
Q

pityriasis rosacea presentation

A

initial heralds patch which then spreads, has a fir tree appearance

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39
Q

what virus is associated with pityriasis rosacea

A

HSV-7

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40
Q

what composite is found in pseudogout

A

calcium pyrophosphate dihydrate crystals

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41
Q

features of pseudogout vs gout on microscopy

A

pseudogout - weakly positive birefringet rhomboid shaped crystals

gout - negative birefringet rod shaped crystals

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42
Q

antibodies associated with sjogrens

A

anti-Ro (70%)
anti-La (30%)
ANA (70%)
RF (50%)

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43
Q

conditions associated with SCC of skin

A

actinic keratosis
bowens disease

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44
Q

3 features of Colle’s fracture

A

transverse fracture of the radius
1 inch proximal to radio-carpal joint
dorsal displacement and angulation

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45
Q

what is a smiths fracture

A

distal radius fractre
fall on an outstretched hand backwars or fall on flexed wrist
causes volar angulation of the radius

46
Q

colle’s vs smiths fracture

A

colle’s = dorsal angulation of radius
smiths = volar angulation of radius

47
Q

bartons fracture

A

distal radius fracture (colle’s/smiths) with associated radiocarpal dislocation

48
Q

monteggia fracture

A

proximal radioulnar dislocation with associated ulnar fracture

49
Q

galezzia fracture

A

distal radioulnar dislocation with associated radial shaft fracture

50
Q

galezzia vs monteggia fracture?

A

galezzia = dislocation of distal radioulnar joint with radial shaft fracture

monteggia = proximal radioulnar dislocation with ulnar fracture

51
Q

how does avascular necrosis of the scaphoid occur with a fracture

A

blood supply from the dorsal carpal branch of the radial artery is compromised

52
Q

whats shown on biopsy of skin SCC

A

keratin pearls

53
Q

What condition is cANCA associated with?

A

Granulations with polyangitis

54
Q

What condition is pANCA associated with?

A

Eosinophilic granulomatosis with polyangitis (and others)

  • microscopic polyangitis
  • Ulcerative colitis
  • primary sclerosing chiantis
  • anti-GBM disease
55
Q

What antigen is associated with Behcet’s syndrome?

A

HLA-B51

56
Q

Symptoms of behcet’s syndrome

A

Oral ulcers
Genital ulcers
Anterior uveitis

57
Q

What is behcet’s syndrome?

A

Presumed autoimmune inflammation of arteries but aetiology yet to be determined
More common in men
Age 20-40
HLA-B51
Family history 30%

58
Q

Unhappy triad

A

ACL
Medial medical (although lateral is more common)
Medial collateral ligament

59
Q

What is osteopetrosis

A

Genetic condition where there is failure of normal bone respoptioj due to defect in osteoclast activity
Thickened dense bone = fractures
Thickened foramina = palsies and paralysis
Bone forms in bone marrow = pancytopenia
Xray shows bone on bone appearance (diffuse sclerosis)

60
Q

Osteomalacia vs rickets

A

Both caused by impaired mineralisation of bone
Osteomalacia - in cortical bone
Rickets - in epiphysis of growth plate in children

61
Q

What is osteitis deformans?

A

Paget’s disease
Impaired turnover of bone resulting in weak bones
Isolated rise in ALP
Skull thickening = increase in head sis
Deafness due to skull deformity
Increased risk of osteosarcoma
Increased blood flow due to increased arteriovenous shunts = risk of high output cardiac failure

62
Q

Causes of avascular necrosis

A

Casts bend legs
Glucocorticoids
Alcohol
Sickle cell
The Bends (caisson/decompression disease)
Legg calf perthes
Gaucher dissase
SUFE

63
Q

Lab value in osteomalaci/rickets

A

Low calcium and phosphate
High PTH
High ALP

64
Q

Most common location of ostesarcoma and ewings?

A

Osteosarcoma - metaphysis long bones
Ewings - diaphysis

65
Q

What HLA anigen is associated with rheumatoid arthirtis ?

A

HLA-DR4

66
Q

Appearance of gout and pseudogout under light micorscopy

A

Gout - yellow when light parallel, blue when perpendicular
Pseudogout - blue when light parallel

67
Q

Most common organism in osteomyelitis of prosthetic joint?

A

Staph. Epidermidis

68
Q

Classic triad of reactive arthritis

A

Uveitis
Urethritis
Arthritis
“Cant see, pee or bend knee”

69
Q

Causative organisms for reactive arthritis

A

She caught every student cheating yesterday and overreacted
Shigella
Campylobacter
E.coli
Salmonella
Chlamydia
Yersinia
Reacted - reactive arthritis

70
Q

Antibodies associated with SLE

A

Anti-dsDNA
Anti-Sm
Antiphospholipid

71
Q

What type of hypersensitivity reaction is SLE?

A

Type 3 (III)

72
Q

Antibodies associated with anti-phospholipid syndrome

A

Lupus anticoagulant
Anti cardiolipin
Anti-B2 glycoprotein I

73
Q

Pathophysiology of myasthenia gravisvs lambert-eaton myasthenic syndrome

A

Myasthenia gravis - Ab against post synaptic Ach receptor
Lambert-eaton - Ab against the pre synaptic Ca channel

74
Q

Antibodies associates with scleroderma

A

Limited: anti-centromere
Diffuse: Anti sci-70 and anti-RNA

75
Q

Features of langerhan cell histocytosis on microscopy

A

Racket shaped granules
(Birbeck granules)

76
Q

Melanoma is derived from what cells

A

Neural crest cells

77
Q

Neuroblastomas share a similar embryological origin to what type of tumour

A

Melanoma
Both origionate from neural crest cells
(Neuroblastomas from chromaffin cells of adrenal medula which are derived from neural crest cells)

78
Q

what muscles may become weak in carpal tunnel syndrome

A

opponens pollicis
abductor pollicis longus
flexor pollicis longus

79
Q

gene affected in achrondoplasia

A

mutation in cell signalling in the FGFR3 gene
(fibroblast growth factor receptor 3 - important for cartillage development)

80
Q

achondroplasia inheritance pattern

A

autosomal dominant

81
Q

achondroplasia features

A

shortened stature
shortened limbs, large head
kyphoscoliosis
lumbar lordosis

82
Q

gait - trunk leaning posteriorly when heel strikes the floor
due to damage to what nerve and muscle it supplies

A

inferior gluteal nerve supplying the maximum muscle

83
Q

what cell type is mostly involved in the pathogenesis of OA

A

macrophages and cytokines

84
Q

what cell type is involved in the phathogenesis of inflammatory conditions like RA, lupus etc

A

T and B cells

85
Q

gram negative, aerobic, oxidase positive

A

pseudomonas

86
Q

causative organisms in osteomyelitis with risk factors;
- IVDU
- sickle cell
- developing countries

A

IVDU - gram negatives (e.coli, pseudomonas)
sickle cell - salmonella, staphylococci
developing countries - TB

87
Q

gram negative, oxidase negative bacillus

A

salmonella

88
Q

gram positive, catalyse positive bacterium

A

staphylococci

89
Q

germline mosaicism and a condition its found in

A

autosomal dominant condition found in a patient whose parents dont have the condition
Ehlors danlos syndrome

90
Q

uniparental disomy and a condition example

A

2 copies of a chromosome come from one parent
angleman syndrome, prader willi syndrome

91
Q

perimysial inflammation with perifascicular atrophy

A

dermatomyositis

92
Q

muscle atrophy with internalised nuclei

A

myotonic dystrophy

93
Q

slow relaxation of hand grip

A

myotonic dystrophy

94
Q

Endomysial infiltration of inflammatory infiltrate

A

polymyositis

95
Q

what nerve root supplies the long thoracic nerve

A

C5-C7

96
Q

HLA antigen - multiple sclerosis

A

HLA-DR2
(2 parts to the name = DR2)

97
Q

HLA antigen - graves disease

A

HLA-DR3 (graves - 3 slaves)

98
Q

HLA antigen bechet’s disease

A

HLA-B51

99
Q

histopathology findings in polymyositis

A

CD8 T cell inflammation
macrophages
necrotic myofibrils

100
Q

staph aureus type of bacterium

A

gram positive, coagulase positive, catalse positive aerobe

101
Q

IgM antibody against the Fc portion of IgG (IgM anti-IgG)

A

RHEUMATOID ARTHRITIS

102
Q

antibodies against the nuclear protein that links sister chromatids

A

limited scleroderma (CRET syndrome)

103
Q

rimmed vacuoles and mononuclear cell (CD8) infiltrates

A

inclusion body myositis

104
Q

inclusion body myositis features

A

weakness of quadriceps and finger flexor muscles
elevated CK, normal ESR/CRP

105
Q

location of ewings vs osteosarcoma

A

ewings = diaphysis of long bones and pelvis
osteosarcoma = metaphysis long bones (FAMILY HISTORY common)

106
Q

pathological organism for rheumatic fever

A

group A strep (GAS)

107
Q

pathophysiology of rheumatic fever

A

antibody cross-reactivity against host and foreign antigens
(molecular mimicry)

108
Q

location of nerve root lesion which causes loss of achillies tendon reflex

A

S1

109
Q

loss of biceps reflex - nerve damaged?

A

musculocutaneous

110
Q

muscles affected in erbs palsy

A

supraspinatous, infraspinatous, deltoid, biceps brachii

111
Q

what type of skin rash is found in anti phsopholipid syndrome

A

lavido reticularis

MSK (3 decks)

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