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ABOS > Genetics > Flashcards

Genetics Flashcards

1
Q

What ortho condition must be checked in a kid with multiple dislocating joints?
How do you screen for it?

A

Larsen’s
cervical kyphosis
C spine films

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2
Q

Kugelberg-Welander Disease

A

Type III SMA

- lives normal life expectance

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3
Q

Nusinersen

A

Drug inserted into thecal sac to treat SMA

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4
Q

2 Medications given for Duchenne?

What for?

A

ACEi-slows progression of cardiomyopathy

Steroids- slow progression of disease, prolongs ambulation and delays scoliosis

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5
Q

Difference btw Duchennes and Beckers

A

Duchenne - absent dystrophin protein

Beckers - dystrophin protein is decrease NOT absent

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6
Q

How to screen kid for Duchennes

A

CK- serum creatinine kinase

- elevated in Duchennes

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7
Q

When to fuse scoliosis in Duchennes

A 
All develop once wheelchair bound
Treat
- if rapidly progressive
- curve > 30
- before pulmonary function drops < 35%
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8
Q

bilateral acetab protrusio

A

marfans

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9
Q

Most common disease to have thoracolumbar kyphosis

- any consequence ?

A

Achondroplasia

- usually resolves when child starts to walk

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10
Q

Cranial issue in achondroplasia

- clinical consequence

A

foremen magnum stenosis

- can cause central sleep apnea and eventual sudden infant death

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11
Q

This gene encodes for a sulfate transporter protein

Mutation in the gene causes?

A

DTDST

Diastrophic dysplasia

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12
Q

Country with highest rate of Diastrophic Dysplasia

A

Finland

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13
Q

Lysozomal storage disease with accumulation of keratan sulfate

A

Morquio’s

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14
Q

Lysosomal storage disease with hypoplastic odontoid

- consequence?

A

Morquio’s

- C1/2 instability

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15
Q

Lysosomal storage disease with accumulation of heparan sulfate

A

San Filippo

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16
Q

Lysosomal storage disease with accumulation of dermatan/heparan sulfate

A

Hunter

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17
Q

Lysosomal storage disease with normal intelligence

A

Morquio

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18
Q

Lysosomal storage disease with accumulation of dermatan sulfate

A

Hurler

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19
Q

Mutation in COL1A1 and COL 1A2

A

OI

20
Q

Most likely cause for myelopathic sx’s in patient with Osteogenesis Imperfecta

A

Basilar invagination

21
Q

Medication for Osteogenesis Imperfecta

- what appearance can this cause on xray?

A

Bisphosphonates

- progressive sclerotic lines in metaphysis

22
Q

How do you addres scoliosis in pt with OI

A

PSF

- anterior only beneficial if kid is really young ot prevent crankshaft

23
Q

Medication given during bone crisis/pain in Sickle Cell pt

A

Hydroxyurea

24
Q

Study used to help differentiate bone infarct from osteomyelitis in sickle cell

A

Bone scan and bone marrow scan

Infarct = decreased marrow uptake, abnormal bone scan

Osteomyelitis = normal marrow uptake, abnormal bone scan

25
Q

Albers- Schonberg Disease

A

The most common form of osteopetrosis

- type II AD

26
Q

Stills Disease

A

acute onset multiple joint juvenile arthritis
fever
rash
splenomegaly

27
Q

Part of workup for newly diagnosed Juvenile Idiopathic Arthritis

A

Ophtho exam - uveitis

C spine flex/ex - atlantoaxial instability

28
Q

How do you address scoliosis in Myelodysplasia?

A

Anterio and posterior fusion

- posterior is dysplastic so it needs the anterior help

29
Q

Phenytoin effect on bone

A

causes impaired function of VitD

30
Q

2 transcription factors involved in regulation of chondrocytes

A

Sox-9 - regulates chondrogenesis

PTHrH - delays differentiation of chondrocytes in hypertrophic zone

31
Q

Nucleus pulposus is a remnant of what embryological structure ?

A

notochord

32
Q

What process contributes most to longitudinal growth in endochondral bone formation?

A

chondrocyte hypertrophy

33
Q

How do you address scoliosis in SMA

A

posterior only

34
Q

Altered functioning of BMP-4 leads to ???

A

Stoneman Syndrome (Fibrodysplasia ossificans progressiva)

35
Q

What does PCR amplify?

A

DNA

36
Q

BMP’s belong to what signaling factor superfamily?

A

TGF-B

37
Q

Low Intensity Pulsed US has been shown to be beneficial for which studied fractures?

A

Radial shaft
Distal radius
Scaphoid
Tibial shaft treated with a cast

38
Q

Effect of gastric bypass on bone health

A

bypassing the duodenum will decrease Ca and VitD absorption

- supplement these pt’s with VitD and Ca

39
Q

Effect of gastric sleeve on bone health

A

No change, duodenum is not bypassed

40
Q

Effects steroids have on bone health

A

increase bone loss via

  • decrease Ca absorption in small intestine thru decrease in binding protein
  • decreases bone formation by inhibiting osteoblasts and decreasing collagen synthesis
41
Q

What kind of bone forming properties does demineralized bone matrix have?

A

Osteoconductive

Osteoinductive (

42
Q

What kind of bone forming properties does cortical/cancellous allograft have?

A

Osteoconductive only

- somehow the cells and proteins are nonviable to provide osteoinductive properties

43
Q

What has the highest compressive strength of bone graft substitute?

A

Ca phosphate

- higher the triCa phos and cancellous bone

44
Q

Iliac autograft has higher complication/pain with anterior or posterior ?

A

anterior

45
Q

Method by which cancellous allograft is incorporated

Benefit?
Con?

A

Creeping substitution - osteoclast resporbs and osteoblast simultaneously lay it down

Benefit -> quick
Con -> no structural support

46
Q

How is porous hydroxyappetite incorporated into bone?

A

Neovascularization and appositional bone growth

it is not resorbed by osteoclasts, the porosity allows osteoblasts to incorpate and start laying bone down

47
Q

What workup should be done for a kid (say 3 yo) presents with trigger finger (not thumb)

A

Muccopolysaccharidosis

- this often present with trigger finger as first sign

ABOS (14 decks)

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