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Millers > BS 3 > Flashcards

BS 3 Flashcards

1
Q

What is a centromere
What disease is Abs vs centromere

A

Centromere = central part of the chromosome that holds duplicated sister chromatids together

CREST = anticentromere Abs
Calcinosis
Raynauds
Esophageal dysmotility
Sclerodactyly
Telangiectasia

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2
Q

Disease for anti-dsDNA Abs

A

SLE

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3
Q

Disease for anti-histone Abs
What is a histone

A

Histone = protein core for spooling DNA
Drug induced SLE

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4
Q

What is a topoisomerase
Disease for anti-topoisomerase Ab
What abx inhibits

A

Topoisomerase = DNA gyrase aka unwind DNA for use
Anti-TP Ab = diffuse scleroderma
Quinolone abx inhibit DNA gyrase

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5
Q

What is the process to make
DNA -> mRNA
mRNA -> protein (and where does this occur)

A

DNA > mRNA = transcription
mRNA > protein = translation (in ribosomes)

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6
Q

What proteins are involved in the following steps of transcription:
1 Binds DNA to select genes for transcription
2 Reads DNA to make mRNA
- What abx works at step 2

A
  1. Transcription factors - bind DNA to tell what parts to code
    2 RNA polymerase - reads DNA > mRNA
    Abx: rifampin = binds RNA pol = Xs bact RNA synthesis
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7
Q

Disease for anti-Smith (anti-Sm) Ab
What is a Smith

A

Anti-Sm = SLE
Smith = snurps
Ribonucleoprotein that cuts out introns, joins exons
- Exon = DNA/RNA that codes for proteins
- Intron = DNA/RNA that does not code for protein

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8
Q

What is the difference between human vs bacterial ribosomes

A

Human = 80S = 60 + 40 subunits
Bacteria = 70S = 50 + 30 subunits

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9
Q

Where do these abx work:
Clindamycin
Macrolides
Linezolid
AminoG
Tetracycline

A

50S subunit bact ribosome:
Clindamycin
Macrolides
Linezolid

30S subunit bact ribosome:
AminoG
Tetracycline

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10
Q

Name the disease/mutation/mechanism:
Ragged cafe au lait spots
Precocious puberty
Hypothyroidism
Cushing
Ground glass lesions on XRs

A

Fibrous dysplasia
Mutation = activation GNAS1
Mechanism = more cAMP

Disorganized fibrotic bone matrix

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11
Q

What is the disease when fibrous dysplasia is polyostotic

A

McCune Albright syndrome

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12
Q

Why is fibrous dysplasia NOT an inherited disorder

A

Bc is a post zygotic somatic mutation - aka error in the mitosis of the zygote
Mutated genes won’t survive reproduction

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13
Q

Name the disease/inheritance/mutation/mechanism:
Skin bumps
Smooth cafe au lait
Iris pigmentation
Tibial pseudarthrosis
Scoli

A

NF1
AD
Mutate tumor suppressor gene
Xs Ras protein = stim cell growth

Hamartomas = Lisch nodules iris, tibial pseudo (AL always looking for a reason for tibial bowing)

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14
Q

Name 10 common AD diseases (structural proteins!)

A

1 Achon = FGFR3
3 Pseudoachon = COMP
3 Marfans = fibrillin
4 ED = COL1
5 OI = COL1
6 SED = CO2
7 Kneist = COL2
8 Stickler = COL2
9 MED = COL9, COMP
10 Schmid = COL10

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15
Q

Name 7 common diseases that are AR (enzyme gene deficits)

A

1 Diastrophic dysplasia = sulfate transport
2 Hurler = alpha-L-iduronidase
3 Sanfilippo = heparan sulfamidase
4 Morquio = galactose sulfatase
5 Gaucher = cerebrosidase
6 Osteopetrosis = CA
7 Homocystinuria = cystathionine synthase

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16
Q

Name 5 common XL recessive disease
XL-R disease: who is the carrier, who is affected

A

Mother = carrier (X*X)
Sons have 50% chance being affected

1 Hunter mucopolysacc = iduronate sulfatase
2 SED tarda = TRAPP
3 Hemophilia (A = F8, B = F9)
4 Duchenne MD
5 Becker MD = DMD gene, Xp21 dystrophin

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17
Q

XL dominant diseases
- If dad is the carrier, which kids affected
- If mom is the carrier, which kids affected

A

Dad = XY
All daughters affected XX
No sons (X from mom)

Mom carrier = X*X
50% daughters and sons affected

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18
Q

What is the general ortho issue for Downs? How does this make sense genetically

A

COL6 is is on chromosome 21 - overexpressed
Ortho issue = LAXITY
- Hip instab
- Patellar dislocation
- AA instab

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19
Q

Multiple myeloma
- Genetic cause
- Cell changes
- Lab findings
- Bone findings + mechanisms (2)

A

Chr 13 deletion = worse prognosis
Proliferate monocolonal B cells = plama cells
Lab = SPEP (M spike), UPEP (Bence Jones proteins)
Bone: lytic lesions
1 Cells release PTHrP = more RANK osteoclast
2 DKK1 inhibits blasts

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20
Q

Name the disease/mutation/mechanism
Short, fat kid
Hypotonic at birth
MR
Scoli

A

Prader Willi
Delete paternal ch15
Activates a silent maternal gene

21
Q

Ewing
- Genetics
- Cells involved
- Presenting sx/population

A

t(11,22) translocation
- Pat Ewing’s jersey number = 33 (11+22=33)
EWS/FL1 fusion protein
Small blue cells, CD 99 marker (3x33)

KIDS
B sx: pain, fever
Long bone diaphysis

22
Q

Name the gene translocation:
Synovial sarc
Clear cell sarc
Myxoid liposarc
Myxoid chondrosarc
Rhabdomyosarc

A

Synovial sarc - t(X, 18)
Clear cell sarc - t(12, 22)
Myxoid liposarc t(12, 16)
Myxoid chondrosarc t(9, 22)
Rhabdomyosarc t(2,13)

23
Q

What cell is implicated w/ elevated alk phos
3 diseases with elevated alk phos

A

Alk phos = osteoblasts
Rickets
Osteomalacia
Paget

24
Q

What is a disease state with LOW alk phos
Inheritance
Gene mutation

A

Hypophosphatasia
AR
Gene: TNSALP

25
Q

How does BMP2 work?

A

Infuse
Inflammation -> bone formation
Also why see seroma formation

26
Q

Fibrodysplasia ossificants progressiva:
What is it/presentation
Pathognomonic finding
Inheritance
Mutation

A

Stone man syndrome - see ossification of STRAP + IP muscles
Form HO from injury
Pathognomonic: 1st ray deformities at birth
AD
Gain of function BMP receptor = BMP4 over expressed

27
Q

Which factor controls each:
Distal/prox
Ulnar/radial
Dorsal/ventral

A

Distal/prox - FGF (via apical ectodermal ridge)

Ulnar/radial - SHH (via ZPA)

Dorsal/ventral - Wnt / B catenin

28
Q

Achondroplasia:
Inheritance
Mutation
Which ossification affected
Which part of the growth plate affected

A

AD
FGFR3 receptor
Endochondral ossification
Proliferative zone (where FGF works)

29
Q

Function FGF23
Disease associated with overactive FGF23
Inheritance/mutation
Trt

A

Trash PO4
- Less renal reabsorption

Disease: hypophosphatemic rickets
- X dom PHEX mutation = cant breakdown FGF23 = low PO4

Trt = bursoumab = anti-FGF23

30
Q

Disease associated with low FGF23 activity
Cause

A

Tumoral calcinosis
2/2 chronic renal failure - cant excrete PO4
Occasional genetic disorder that decreases FGF23

CaPO4 deposits throughout the body

31
Q

3 diseases related to SHH issues

A

SHH = radio/ulnar
Polydactyly (post axial) = too much SSH
Mirror hand
Fib hemi = too little SHH

32
Q

Fib hemi:
Associated knee finding

A

Absent ACL

33
Q

Name the 3 types of tibial bowing and any associated conditions if applicable

A

AL = Aways Look for NF
AM = Absent/Missing bones = fib hemi
PM = Probably Mild, +/- calcaneovalgus

34
Q

What is the classic example of Wnt disorder

A

Nail patella syndrome
Aplastic/hypoplastic patella
Iliac horns

35
Q

Describe intramembranous ossification
Is Wnt high or low?
How does this affect SOX9/Runx2?

A

Mensenchymal stem cells direct to osteoblasts
No cartilage model

Wnt high (osteoblast differentiation)
Runx2 high / Sox9 low

Ie 1ary bone healing

36
Q

Cleidocranial dysplasia:
Inheritance
Mutation
Clinical manifestations

A

AD
CBFA/Runx - poor intramemb ossification (flat bones)
No clavicles

37
Q

Describe enchondral ossification
Is Wnt high or low?
How does this affect SOX9/Runx2?

A

Stem cells -> chondrocytes = cartilage model, later replaced by bone

Ie frx callus, growth plates

Wnt low (favors chondrocytes) - increases later when replacing the cartilage matrix w/ bone
Sox9 high / Runx2 low

38
Q

What is the main goal of Wnt

A

Increase bone!

39
Q

Osteocytes:
How do they communicate
What is the main signaling molecule

A

Communicate via gap jxn w/ connexin

Molecule = sclerostin
- Blocks Wnt/B catenin = inhibits osteoblasts

40
Q

What 2 things inhibits sclerostin production?
What medicine Xs sclerostin

A

1 Mechanical loading
Sclerostin decreases bone mass
Why weight bearing (mechanical loading) = good for bone mass

2 Pulsed PTH

Med = romosozumab
Approved for osteoporosis

41
Q

Sclerosteosis:
Inheritance
Mutation
Clinical presentation

A

AR
SOST defect
Thick cortices (too much bone)
- CN pinching: deaf, blind
- No frx bc bones so hard

42
Q

What does dickkopf protein (DKK1) do

A

Decrease bone
Blocks Wnt/B catenin

43
Q

Describe the RANK-L/RANK pathway

A

RANK-L from osteoblasts/cytes
Binds RANK
Stimulates clast formation

RNK is a receptor on clasts

44
Q

Function of osteoprotegrin

A

Blocks RANK-L/RANK
From osteoblasts
How blasts inhibit clasts

45
Q

What cell does Wnt signaling work on

A

Mesenchymal stem cells to drive differentiation to osteoblasts

46
Q

What molecule turns osteoclasts on vs off

A

On: RANK-L
Denosumab is an Ab to RANK-L
Off: calcitnoin

47
Q

2 types of bisphosphonates + mechanism

A

Nitrogen = block synthase enzyme
- Alendronate, risedronate, pamidronate, zoledronate

Non-nitrogen = compete with ATP
- Tiludronate, etidronate, clodronate

48
Q

How do osteoclasts break down bone? 4 major cell enzymes

A

Carbonic anhydrase
Cathepsin K
TRAP
ATPase / Cl- channel

Millers (29 decks)

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