MSK Flashcards

1
Q

Describe SUFE ?

A

10-15 YEAR OLD OBESE POST GROWTH SPURT
Displacement of the epiphysis of the femoral head posteroinferiorly, requiring prompt treatment in order to prevent avascular necrosis

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2
Q

Describe perthes

A

Boys aged 4-8
Interruption of the blood supply causes avascular necrosis of the capital femoral epiphysis of the femoral head, and is followed by revascularization and reossification over 18–36 months

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3
Q

What is the most common form of osteogenesis imperfecta? what is gene mutation + inheritance

A

Osteogenesis imperfecta type 1
COL1A1/COL1A2 AD

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4
Q

What is classic presentation of osteogenesis imperfecta type 1?

A

multiple childhood fractures
Bue sclera. +/- hearing loss

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5
Q

what are the inherited forms of rickets?

A

X-linked hypophosphataemic rickets, McCune–Albright syndrome/polyostotic fibrous dysplasia.

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6
Q

Describe Junvenile dermatomysositis + presentation

A

small vessel vasculopathy
heliotrope rash over the face, periorbital oedema, Gottron papules over the extensor surfaces and proximal muscle weakness.

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7
Q

Describe Marfan syndrome and its inheritance

A

AD
tall, high arched palrt, pectus excavatum, long thin digits
up and in lens dislocation. Aortic root dilatation and mitral valve prolapse

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8
Q

What is inheritance of achondropasia?

A

A.D.
50% are de novo!

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9
Q

What HLA type is a/w SLE?

A

HLA D8, DR2 and DR3

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10
Q

What serology is suggestive of Lupus?

A

anti dsDNA-75%
Anti phospholipid
ANA - 90%
rheumatoid factor - 30%

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11
Q

What rashes are classically seen in Lupus?

A

malar rash (butterfly)
discorid rash
They both classically appear on exposure to sunlight

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12
Q

Define jouvenile idiopathic arthritis

A

Chronic arthritis affecting one or more joints for > 6months

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13
Q

How many subtypes of JIA are there, and what are they?
(name at least 4)

A

7
Oligoarticular arthritits
Systemic arthritis
Polyarticular arthritis rheumatoid factor pos
Polyarticular arthritis rheumatoid factor neg
psoriatic arthritis
enthesitis-related arthritis
undifferentiated arthritis

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14
Q

What is the presentation of systemic Jouvenile idiopathic arthritis?

A

Fever > 2 weeks, usually late in the day.
Salmon pink rash
a/w hepatosplenomegaly, peluritis, pericarditis, peritonitis

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15
Q

What is the presentation of oligoarthritis?

A

4 joints or less
stiffness more common than pain
more commonly effects ankle and knees.
a/w chronic ie. painles uveitis

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16
Q

what is presentation of polyarticular arthritis ?

A

5 or more joints
RF positive hands and wrists more common
RF neg tempromandibular

17
Q

What is presentation of enthesitis- related arthritis?

A

arthirits/ enthesitis + two of
acroiliac/lumbar pain, heel pain, anterior uveitis
often affects lower limbs

18
Q

what is presentation of psoriatic arthritis ?

A

effects small and large joints asymmetrically
dactylitis, nail pitting, oncholysis

19
Q

What type of arthritis is most associaed with HLA b27?

A

enthesitis- related arthritis

20
Q

What JIA is NOT associated with ANA?

A

systemic JIA

21
Q

What babies can have heart block based on which maternal condition?

A

SLE or Sjorgen syndrome
Anti ro/la

22
Q

What part of the bone is most likely to be infected in osetomyelitis?

A

Metaphysis

23
Q

What is classic x-ray changes for septic arthritis?

A

widended joint space

24
Q

what is gene and locus responsible for Duchenne muscular dystrophy?

A

dystrophin gene
xp21.1

25
Q

What is x-ray appearance of perthes?

A

flattened femoral head

26
Q

What are the features of rheumatic fever?

A

strep pyogenes pharyngitis 2-6 weeks ago
fever >38.5
Carditis
mobile large joint arthritis
Erythema marginatum- annular erythematous rash
subcutaenous, extensor surface nodules
sydenham’s chorea