Genetics Flashcards by Mark Plumby

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

Larsen’s
cervical kyphosis
C spine films

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Kugelberg-Welander Disease

Type III SMA

- lives normal life expectance

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Nusinersen

Drug inserted into thecal sac to treat SMA

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2 Medications given for Duchenne?

What for?

ACEi-slows progression of cardiomyopathy

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

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Difference btw Duchennes and Beckers

Duchenne - absent dystrophin protein

Beckers - dystrophin protein is decrease NOT absent

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How to screen kid for Duchennes

CK- serum creatinine kinase

- elevated in Duchennes

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When to fuse scoliosis in Duchennes

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

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bilateral acetab protrusio

marfans

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Most common disease to have thoracolumbar kyphosis

- any consequence ?

Achondroplasia

- usually resolves when child starts to walk

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Cranial issue in achondroplasia

- clinical consequence

foremen magnum stenosis

- can cause central sleep apnea and eventual sudden infant death

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This gene encodes for a sulfate transporter protein

Mutation in the gene causes?

DTDST

Diastrophic dysplasia

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Country with highest rate of Diastrophic Dysplasia

Finland

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Lysozomal storage disease with accumulation of keratan sulfate

Morquio’s

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Lysosomal storage disease with hypoplastic odontoid

- consequence?

Morquio’s

- C1/2 instability

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Lysosomal storage disease with accumulation of heparan sulfate

San Filippo

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Lysosomal storage disease with accumulation of dermatan/heparan sulfate

Hunter

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Lysosomal storage disease with normal intelligence

Morquio

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Lysosomal storage disease with accumulation of dermatan sulfate

Hurler

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Mutation in COL1A1 and COL 1A2

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

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Basilar invagination

Medication for Osteogenesis Imperfecta

- what appearance can this cause on xray?

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Bisphosphonates

- progressive sclerotic lines in metaphysis

How do you addres scoliosis in pt with OI

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PSF

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

Medication given during bone crisis/pain in Sickle Cell pt

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Hydroxyurea

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

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Bone scan and bone marrow scan

Infarct = decreased marrow uptake, abnormal bone scan

Osteomyelitis = normal marrow uptake, abnormal bone scan

Albers- Schonberg Disease

The most common form of osteopetrosis | - type II AD

Stills Disease

acute onset multiple joint juvenile arthritis fever rash splenomegaly

Part of workup for newly diagnosed Juvenile Idiopathic Arthritis

Ophtho exam - uveitis | C spine flex/ex - atlantoaxial instability

How do you address scoliosis in Myelodysplasia?

Anterio and posterior fusion | - posterior is dysplastic so it needs the anterior help

Phenytoin effect on bone

causes impaired function of VitD

2 transcription factors involved in regulation of chondrocytes

Sox-9 - regulates chondrogenesis | PTHrH - delays differentiation of chondrocytes in hypertrophic zone

Nucleus pulposus is a remnant of what embryological structure ?

notochord

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

chondrocyte hypertrophy

How do you address scoliosis in SMA

posterior only

Altered functioning of BMP-4 leads to ???

Stoneman Syndrome (Fibrodysplasia ossificans progressiva)

What does PCR amplify?

DNA

BMP's belong to what signaling factor superfamily?

TGF-B

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

Radial shaft Distal radius Scaphoid Tibial shaft treated with a cast

Effect of gastric bypass on bone health

bypassing the duodenum will decrease Ca and VitD absorption | - supplement these pt's with VitD and Ca

Effect of gastric sleeve on bone health

No change, duodenum is not bypassed

Effects steroids have on bone health

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

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

Osteoconductive | Osteoinductive (

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

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

What has the highest compressive strength of bone graft substitute?

Ca phosphate | - higher the triCa phos and cancellous bone

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

Method by which cancellous allograft is incorporated Benefit? Con?

Creeping substitution - osteoclast resporbs and osteoblast simultaneously lay it down Benefit -> quick Con -> no structural support

How is porous hydroxyappetite incorporated into bone?

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

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

Muccopolysaccharidosis | - this often present with trigger finger as first sign

Genetics Flashcards

(47 cards)