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1
Q

Typical presentation of porphyria cutanea tarda?

A

Fragility and blisters

Other features: hyperpigmentation, hypertrichosis, solar urticaria, morphoea

2
Q

Investigation for porphyria cutanea tarda?

A

Woods lamp

3
Q

Causes of porphyria cutanea tarda?

A

Alcohol, viral hepatitis, oestrogens, haemochromatosis

4
Q

Defect in uroporphyrinogen decarboxylase causes what?

A

Porphyria cutanea tarda

5
Q

Cancer you might get if you have PCT?

A

Hepatoma (hepatocellular carcinoma)

6
Q

Defect in ferrochelatase causes which condition?

A

Erythropoietic protoporphyria

7
Q

Investigations for erythropoietic protoporphyria

A
Quantitative RBC porphyrins
Fluorocytes (patient, relatives)
Transaminases
[Hb], red cell indices
(Biliary tract USS)
(Phototesting)
8
Q

Management of EPP

A

6 monthly LFTs and RBC porphyrins

Visible light photoprotection measures (particular need for caution if surgery needed)
Prophylactic TL-01 phototherapy
Anti-oxidants (beta-carotene, cysteine, high dose vitamin C)
(Avoid iron)

Incipient liver failure: oral charcoal; cholestyramine; ? ALA synthase inhibition
Liver failure: transplant liver; ? Bone marrow

9
Q

Acute intermittent porphyria differentials?

A

Acute abdomen
Mononeuritis multiplex
Guillain-Barré syndrome
Psychoses

10
Q

(female) patient with abdominal pain +/- neurological +/- psychiatric +/- hyponatremia

A

Acute intermittent porphyria

11
Q

Fluid and electrolyte balance

A

Sweat glands

12
Q

Epidermis cells

A

Mainly squamous

Stratified keratinising

13
Q

Where are the melanocytes found?

A

Dermo-epidermal junction

14
Q

Ratio of melanocytes : basal cells

A

1:10

15
Q

Which layer of epidermis are melanocytes found in?

A

The basal layer

16
Q

Where are langerhans cells found?

A

Mid - upper epidermis

17
Q

Dermis

A

The dermis: a thicker inner portion. This is the connective tissue layer of skin. It is important for sensation, protection and thermoregulation. It contains nerves, the blood supply, fibroblasts, etc, as well as sweat glands, which open out onto the surface of the skin, and in some regions, hair. The apical layers of the dermis are folded, to form dermal papillae, which are particularly prominent in thick skin

18
Q

Acanthosis

A

Thickening of epithelium

19
Q

Parakeratosis

A

Persistence of nuclei in the keratin layer

20
Q

Hyperkeratosis

A

Increased thickening of keratin layer

21
Q

Papillomatosis

A

Irregular epithelial thickening

22
Q

Psoriasiform

A

Elongation of rete ridges e.g. psoriasis

23
Q

Munro micro abcess

A

Associated with psoriasis

-an abcess (collection of neutrophils) in the stratum corneum

24
Q

Which investigation should all patients presenting with erythema nodosum be given?

A

x-ray for chest involvement

25
Q

Anti-endomysial antibodies

A

Dermatitis herpetiformis

26
Q

Areas affected by dermatitis herpetiformis?

A

Elbows, knees, back and buttocks

27
Q

Side effect of nifedipine?

A

Gingival hyperplasia

28
Q

People with polymyalgia rheumatica may also develop what?

A

Giant cell arteritis

29
Q

Lattisimus dorsi?

A

Adducts shoulder
Extends shoulder
Internally rotates shoulder

30
Q

SLE biologics

A

Anti-CD20 (rituximab)

Anti-Blys (Belimumab)

31
Q

Serum and synovial keratin sulphate

A

Levels of serum and synovial keratin sulphate increase with age and in OA

32
Q

SLE is which kind of hypersensitivity?

A

Type III hypersensitivty

33
Q

Nucleolar ANA

A

Scleroderma

34
Q

Speckled antibody

A

SLE and sjogrens

35
Q

What would you find in a type III hypersensitivity biopsy?

A

Immune complexes
Neutrophils and macrophages
Products of complement activation

36
Q

Rheumatoid arthritis type of hypersensitivity

A
Type IV (delayed)
Characterised by infiltration of synovium with CD4+ cells
37
Q

TNF AND IL-1 PLAY CRITICAL ROLE IN WHICH DISEASE?!

A

RA

-Important mediators of joint damage!!

38
Q

What is rheumatoid factor?

A

antibody directed against the Fc region of IgG

39
Q

Major indications for Rheumatoid factor testing?

A

Good indicator of PROGNOSIS of RA (more severe etc, associated with extra-articular manifestations e.g. nodules and vasculitis)
May be helpful in diagnosis of Sjogrens and cryoglobulinemia

40
Q

Best predictor of aggressive disease course in RA?

A

Anti-CCP

41
Q

Systemic inflammatory response syndrome?

A

HB > 90
RR > 20
WBC >12,000 or <4.3 kPa

42
Q

Salmonella may cause osteomyelitis in which specific set of patients?

A

Sickle cell anemia patients

43
Q

Poorly controlled diabetics, immunocompromised and IV drug users are particularly at risk of osteomyelitis where?

A

In the spine!!

44
Q

Risks of HRT

A

Endometrial and breast cancer

DVT

45
Q

How to diagnose stress fracture

A

Ultrasound or bone scintigraphy
They are common in the pelvis
Show first radiological signs of healing 4-8 weeks post fracture

46
Q

Galeazzi fracture?

A

Fracture of the distal third of the radius and dislocation of the ulna

47
Q

Fracture just above the elbow with displacement of the distal fragment

A

Supracondylar fracture

48
Q

Supracondylar fracture risks

A

Median nerve
Brachial artery
Compartment syndrome

49
Q

SUFE associated with which endocrine disorder?

A

Hypothyroidism

50
Q

Osgood schlatters disease

A

Osteochondritis of the tibial tuberosity

  • Classically affects teenagers and those who enjoy sport
  • local swelling or tender lump over tibial tuberosity
  • symptoms exacerbated by exercise and relieved by rest
51
Q

Pink/blue sweaty hand that is tender to touch and stiff

Injury occurred some weeks ago

A

Complex regional pain syndrome

52
Q

Swelling an calf tenderness following THR?

A

Deep vein thrombosis

53
Q

Chondromalacia

A

Damage to the cartilage at the back of the knee cap

-More commonly found in girls who exercise regularly

54
Q

What commonly precedes tranient synovitis of the hip?

A

Upper respiratory tract infection

55
Q

Where would you develop a chondroma?

A

Hands and feet

56
Q

Distinct clinical picture of osteoid osteoma?

A

Worse at night, dull pain, characteristically relieved by NSAIDs or aspirin

57
Q

Enchondroma histology?

A

Small round pyknotic nuclei, no atypia

58
Q

Classical RADIOLOGICAL image of osteoid osteoma?

A

Radiolucent niddus surrounded by reactive sclerosis in cortex of bone

59
Q

Chicken wire calcification

A

Chondroblastoma

60
Q

Chondroblastoma histology

A

Closely packed polygonal cells plus areas of immature chondroid
-Mitotic activity low

61
Q

Treatment for chondroblastoma?

A

Biopsy and curretage plus adjuvant liquid nitrogen

62
Q

Multi-nucleated cells in a sea of round to oval cells

A

Giant cell tumour

63
Q

Irregular spicules of mineralised bone and osteoid surrounded by osteoblasts
Vascular stroma with pleomorphic SPINDLE CELLS
Osteoid and woven bone are seen

A

Osteoblastoma

64
Q

Lobules and fibrous septa

A

Chorda
Lobules and fibrous septa
The malignant cells have eosinophilic cytoplasm and vacuoles of mucus push the nuclei to the side

65
Q

Separation of nodules by fibrous bands would be highly suggestive of what?

A

Malignancy
Malignant nodules infiltrate between the lamellar bone obliterating the marrow. Separation of the nodules by fibrous bands would be highly suggestive of malignancy

66
Q

Peripheral primitive neuroectodermal tumour

A

Ewings sarcoma

67
Q

Treatment for Ewings Sarcoma

A

Surgery
Radiation therapy
Chemotherapy with vincristine, dactomycin and cyclophosphamide
Post-operative adjuvant chemotherapy

68
Q

Ideal pH?

A

7.35-7.45

69
Q

Which organ excretes/resorbs bicarbonate?

A

Kidneys

70
Q

Tumour derived from remnants of notocord?

A

Chordoma

71
Q

Chondrosarcoma shows pure differentiation of which type of cartilage?

A

Chondrosarcoma shows pure differentiation of hyaline cartilage

72
Q

PNET

A

Peripheral neuroectodermal tumour

Ewing’s sarcoma

73
Q

Multiple myeloma

A

Malignant proliferation of plasma cells in bone marrow
Occurs in old age
Often causes renal failure
Results in bone destruction of the axial skeleton

74
Q

Chicken wire calcification

A

Chondroblastoma

75
Q

Dermatomyositis may lead to which type of cancers?

A

Breast, ovarian, stomach, lung, bladder, colon

76
Q

Malignancy risk related to dermatomyositis is highest in which group of people?

A

Men over 45

77
Q

Anti-Jo-1 antibodies

A

Myositis
Indicate poor prognosis with interstitial lung disease
The lung disease occurs in about 1/3rd

78
Q

Drug treatment for polymyositis/dermatomyositis

A

Early initiation of therapy is essential.[8]
Steroids are the most important drugs. In mild disease, topical steroids may suffice. In more severe disease, high doses of systemic steroids are used and tapered off. Improvement is usually apparent by the second or third month. The usual precautions must be exercised when giving high doses of steroids for long periods.
If steroids fail then immunosuppressive drugs such as azathioprine can be used. As an alternative, cyclophosphamide is usually better than methotrexate.
Intravenous immunoglobulin is appropriate in patients with resistant dermatomyositis or aggressive disease

79
Q

Inclusion myositis histology

A

Inflammatory infiltrate.
Cytoplasmic vacuolation.
Characteristic tubo-filamentous inclusions within the cytoplasm and nuclei of muscle cells.

80
Q

Papular eruption characterised by its violacous colour and polygonal shape, sometimes with a fine scale
It is most often found on the flexor surfaces of the upper extremities, genitalia and mucous membranes!!

A

Lichen planus

81
Q

Somebody has primary biliary psoriasis, what skin condition might they have?

A

Lichen planus

82
Q

Drugs which could cause eruptions similar to lichen planus?

A

Thiazides, anti-malarials and gold

83
Q

When does lichen planus tend to spontaneously resolve?

A

6-12 months

84
Q

Ring fibres in muscle are a sign of what?

A

Dystrophic change
Also: fatty replacement, regeneration, segmental necrosis, increased central nuclei, myocyte hypertrophy and splitting, variability in muscle fibre size and endomysial fibrosis

85
Q

Myotonic dystrophy

A

Face, respiratory, limbs

Dominant

86
Q

Duchenne and Becker muscular dystrophy

A

X-linked recessive

87
Q

Limb girdle and scapulohumeral muscular dystrophy

A

autosomal recessive

88
Q

Fascisuloscapulohumeral, oculopharyngeal and myotonic dystrophy method of inheritance?

A

Dominant

89
Q

Pseudohypertrophy of calves

A

DMD

90
Q

Myotonic dystrophy

A

Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.
Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person’s twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.
There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.

91
Q

Atrophy of type 1 fibres?

A

Myotonic dystrophy

92
Q

Chromosomes involved in myotonic dystrophy?

A

Ch3 and Ch19

93
Q

Parts of the body affected in myotonic dystrophy?

A

Adolescent: face and limbs
Later: respiratory

94
Q

Upper body erythema, swelling of eyelids with purple discolouration
(plus polymyositis)

A

Dermatomyositis

95
Q

Target lesions

A
Erythema multiforme
(doesn't affect mucous membranes)
96
Q

Progressive degeneration in anterior horn cells

A

Motor neuron disease

97
Q

Chromosome involved in spinal muscular atrophy?

A

Chromosome 5

-autosomal recessive

98
Q

What might cause myoglobulinuria?

A

Rhabdomyolysis

99
Q

What does rhabdomyolysis cause?

A
Hyperkalaemia
Myoglobulinuria
Necrosis and shock
OUTCOME;
Acute Renal Failure (breakdown products of skeletal muscle and myoglobin are harmful to the kidneys)

Hypovolaemia & hyperkalaemia

Metabolic acidosis

Disseminated intravascular coagulation

100
Q

SLE hypersensitivity?

A

Visceral lesions – mediated by Type III hypersensitivity

Haematological effects – mediated by Type II hypersensitivity

101
Q

Coombs test

A

Checks for antibodies that affect red blood cells

102
Q

PAN

A

§fever, weight loss, abdominal pain, and polyneuropathy revealed areas of focal inflammatory exudations that gave rise to palpable nodules along the course of medium-sized arteries

103
Q

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

A

Giant cell arteritis

104
Q

Cells seen in Rosacea inflammation?

A

Plasma

105
Q

Rhinophyma?

A

Thickening of skin, e.g. in rosacea

106
Q

Common to all variants of pemphigus is the process of

A

Acantholysis :)

=lysis of inracellular adhesion sites

107
Q

Papillary dermal microabscesses

A

Dermatitis herpetiformis!!

108
Q

Follicular demodex mite is often seen in which condition?

A

Rosacea

109
Q

Patchy inflammation with plasma cells?

Perifollicular granulomas

A

Rosacea

110
Q

Pemphigus vulgaris, bullous pemphigoid and dermatitis herpetiformis, IgA or IgG?

A

Pemphigus vulgaris and bullous pemphigoid = IgG

Dermatitis herpetiformis = IgA

111
Q

Elongation of rete ridges

A

Psoriasis

112
Q

Munro microabscesses

A

Psoriasis

113
Q

What is the epidermal BM made of?

A

Laminin and collagen IV

114
Q

Which part of the dermis contains appendage structures-sweat glands, pilosebaceous units?

A

The reticular dermis

115
Q

Where are melanocytes found in the dermis?

A

In the basal layer

116
Q

Epidermis

A

Stratified squamous keratinising epithelium

117
Q

Key hallmarks of cancer (photocarcinogenesis lecture)

A
  1. Insensitivity to growth signals
  2. Insensitivity to anti-growth signals
  3. Evade death (apoptosis)
  4. Limitless potential to divide
  5. Angiogenesis
  6. Invasion and metastasis
118
Q

Sun exposure length and skin cancer type

A

Intermittent exposure: BCC & melanoma

Chronic exposure: SCC

119
Q

UV signature mutation

A

Cytosine to thymine

120
Q

Which type of UV causes initiation mutations in cancer?

A

UVB –> initiation mutation

UVB/UVA –> promotion

121
Q

MCC

A

Merkel skin cancer

122
Q

Syndromes predisposing to BCC?

A

XP

Basal cell nevus syndrome (Gorlin Syndrome)

123
Q

Drugs associated with photocarcinogenesis?

A
Psoralen
Voricanzole
Azathioprine
Vemurfanib
Immunosuppressants
Photosensitising drugs
Topicals
124
Q

Inflammatory mediators up regulated in photocarcinogenesis

A

IL-10 and PGE2

  • decrease langerhans cells
  • increase oxidative stress
  • interact with endogenous compounds
125
Q

Papillomatosis

A

Irregular epithelial thickening

126
Q

Acanthosis

A

Increased thickening of epidermis

127
Q

Contact allergic dermatitis

A

Delayed, type 4

128
Q

Drug related dermatitis

A

Type1/4 hypersensitivity

spongiotic dermatitis and eosinophils

129
Q

Immunopathology of contact dermatitis

A

Langerhans cell in epidermis processes antigen
( immunogenicity).
Processed antigen is then presented to Th cells in dermis
Sensitised Th cells migrate into lymphatics and then to regional nodes where antigen presentation is amplified

130
Q

What type of dermatitis is nappy rash?

A

Irritant contact dermatitis

Sparing of flexures

131
Q

Which other allergic conditions is eczema associated with?

A

Allergic rhinitis
Asthma
Food allergy

132
Q

Chronic changes in eczema

A

Lichenification
Excoriation
Secondary infection

133
Q

Monomorphic punched out lesions??

A

Herpes simplex virus

Eczema herpeticum

134
Q

Diagnostic criteria for Eczema

A
Itching plus 3 or more:
Visible flexural rash*
History of flexural rash*
Personal history of atopy (or first degree relative if under 4 yo)
Generally dry skin 
Onset before age 2 years

*cheeks and extensor surfaces in infants

135
Q

Treatment of Eczema

A
Plenty of emollients
Avoid irritants including shower gels and soaps
Topical steroids
Treat infection
Phototherapy – mainly UVB
Systemic immunosuppressants
(Biologic agents)
136
Q

Chronic Actinic Dermatitis

A

Photosensitive dermatitis

137
Q

Stasis eczema is secondary to what?

A

hydrostatic pressure
oedema
red cell extravasation

138
Q

Pompholyx eczema

A

Spongiotic vesicles

-tiny blisters on hands and feet

139
Q

Upper cervical spine

A

C1 and C2

140
Q

Atlanto-occipital joint

A

Flexion/extension

Lateral extension

141
Q

Ligamentum flavum

A

Link vertebral laminae

142
Q

Example where one column of the spine would be fractured?

A

Osteoporotic wedge fracture

143
Q

Intermediate muscle of the spine?

A

Serratus posterior (spinous processes –> ribs)

144
Q

Dorsal scapula nerve

A

C3/C4

innervates rhomboid major and rhomboid minor

145
Q

Transverse process of C1 –> superior angle of scapula

A

Levator scapularis

Innervation: branches of C4/C5

146
Q

What forms the intervertebral foramina?

A

Notches in the pedicles

147
Q

Biceps tendonitis

A

Usually a vague anterior shoulder pain which has an aching quality

148
Q

Shoulder girdle

A

Clavicel and scapula

149
Q

Where does a SLAP tear occur?

A

A SLAP tear occurs where the biceps tendon attaches to the labrum

150
Q

TFCC

A

triangular fibrocartilage complex

151
Q

Which nerve supplies the thenar muscles?

A

The median nerve

152
Q

What innervates the abductor digiti minimi muscle?

A

The ulnar nerve

153
Q

Solution to eyes immune system or lack thereof

A

Blink reflex
Physical and chemical properties of eye surface.
Limit exposure/size

154
Q

Lysozyme

A

Gram negative and fungi

155
Q

Secretory IgA

A

Prevents attachment

156
Q

Lactoferrin and transferrin

A

Gram positive

157
Q

Tear lipids

A

Anti-bacterial to cell membranes

158
Q

Cornea

A

Clear dome over the iris

159
Q

Which is the only part of the eye with lymphatic drainage?

A

The conjunctiva

  • Also has dendritic cells
  • Mucosa associated lymphoid tissue
  • commensal bacteria
160
Q

Choroid

A
Vascular layer of the eye containing connective tissue
Lies between the retina and sclera
-Blood ocular layer
-Relative lack of APC's
-down regulated immune system
161
Q

Hypersensitivity reaction

A

Immune response that results in bystander damage to the self

162
Q

Fab

A

Antigen specific region

163
Q

Optical Cicatricial Pemphigoid type of hypersensitivIty?

A

Type II

164
Q

Autoimmune corneal melting type of hypersensitivity?

A

Type III

165
Q

Corneal graft rejection type of hypersensitivity?

A

Type IV

166
Q

Where does the subarachnoid space end?

A

Ends at the level of S2