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From Flashcardlet > Patho: Bone/Rheumatology > Flashcards

Patho: Bone/Rheumatology Flashcards

1
Q

Osteocalcin

A

Protein that is as a marker for cell turnover and osteoblast activity

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2
Q

Osteopontin

A

Protein that acts as a marker for cell turnover

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3
Q

Osteoprogenitor cells

A

Pluripotent mesenchymal stem cells that can differentiate to active osteoblasts or surface/inactive osteoblasts that release cytokines and hormones

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4
Q

Runx2

A

Produces transcription factors supporting the maturation of osteoprogenitor cells to active osteoblasts… mutations can result in cleidocranial dysplasia

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5
Q

LRP5/6

A

LDL receptor related proteins 5 & 6, receptors on osteoblasts that bind Wnt to allow production of beta catenin

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6
Q

Wnt

A

Binds to LRP5/6 receptors on osteoblasts to stimulate production of beta catenin, which anchors osteoblasts to the lamellar bone

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7
Q

Beta catenin

A

Produced by active osteoblasts after stimulation by Wnt binding to the LRP5/6 receptors, anchors osteoblasts to the lamellar bone to allow for remodeling to occur

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8
Q

BMP

A

Bone morphogenic protein, stimulates bone remodeling, can be used in spinal fusions to encourage bone growth

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9
Q

Infuse

A

Recombinant BMP approved for use in spinal fusions to encourage bone growth, also causes overgrowth of bone and is a/w 38% increase in benign tumors

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10
Q

Osteoid

A

Bone matrix not yet mineralized, takes about 12 days for mineralization to be complete

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11
Q

RANK ligand

A

Protein expressed by osteoblasts that bind to osteoclast precursors to activate NF-kappabeta to increase osteoclastogenesis

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12
Q

RANK

A

TNF-related receptor expressed by osteoclast precursors, increases osteoclastogenesis when bound by RANK ligand

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13
Q

OPG

A

Osteoprotegrin, protein produced by osteoblasts that blocks RANK-RANK ligand interaction to inhibit osteoclastogenesis

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14
Q

Howship lacunae

A

Small depressions in bone where osteoclasts are found

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15
Q

Osteoclastogenesis

A

Differentiation of osteoclast precursors to osteoclasts

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16
Q

NF-kappabeta

A

Nuclear factor kappabeta, increases osteoclastogenesis when activated by RANK/RANK ligand interaction

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17
Q

M-CSF

A

Macrophage colony stimulating factor, released by osteoblasts, binds to receptors on osteoclasts to induce differentiation and stimulate bone resorption

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18
Q

Modeling

A

Bone resorption and formation occur on separate surfaces

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19
Q

Remodeling

A

Replacement of old bone with new bone mass

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20
Q

T-score

A

Bone mineral density standards based on 30 year old females

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21
Q

Z-score

A

Bone mineral density standards that are age and gender matched

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22
Q

Osteopenia

A

Bone mineral density between 1-2.5 standard deviations below the mean for young adult women (T-score -1 to -2.5)

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23
Q

Osteoporosis

A

Bone mineral density more than 2.5 standard deviations below the mean for young adult women (T-score <-2.5)

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24
Q

Cholecalciferol

A

Vit D3, synthesized in skin after UV light exposure, ingested with diet, longer half life than Vit D2

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25
Q

Ergocalciferol

A

Vit D2, ingested with diet

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26
Q

Raloxifene

A

Estrogen receptor modulator, decreases osteoclast activity by increasing production of osteoprotegrin

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27
Q

Bisphosphonates

A

Osteoclast inhibitor, affects the proton pumps, most common treatment for osteoporosis

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28
Q

Forteo

A

Recombinant PTH, stimulates osteoblasts to actively build bone, an injectable treatment for osteoporosis

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29
Q

Denosumab

A

Antibody to RANK ligand, acts like OPG to prevent cell differentiation of osteoclasts

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30
Q

Osteitis deformans

A

Paget’s disease

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31
Q

SQSTM1

A

Gene that codes for protein p62, mutations lead to enhanced RANK signaling and increased osteoclast activity

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32
Q

p62

A

Protein that acts as a scaffolding protein in the RANK signaling pathway

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33
Q

Osteoporosis circumscripta

A

Refers to a focal lytic lesion in the frontal and/or parietal bones, characteristic of Paget’s disease

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34
Q

Infraction

A

An incomplete fracture without displacement, can be found in Paget’s disease

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35
Q

Platybasia

A

Flattening of the base of the skull that can be a complication of Paget’s disease, impinges foramen magnum, compresses medulla and spinal cord

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36
Q

Pagetic steal

A

Refers to lightheadedness due to shunting of blood from brain to bone, a complication of Paget’s disease

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37
Q

1-alpha-hydroxylase

A

Enzyme involved in the activation of vitamin D

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38
Q

CASR

A

Calcium sensing receptor gene, mutations lead to familial hyperparathyroidism

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39
Q

Dissecting osteitis

A

First step of bone resorption in hyperparathyroidism, osteon hollowed out by osteoclasts

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40
Q

Osteitis fibrosa

A

Second step of bone resorption in hyperparathyroidism, trabecular bone resorbed and marrow replaced with fibrosis

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41
Q

Osteitis fibrosa cystica

A

Third step of bone resorption in hyperparathyroidism, “brown tumor” is filled with fluid containing RBCs, fibrosis with bleeding occurs

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42
Q

Dysotoses

A

Congenital malformations of the bones

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43
Q

Polydactyly

A

Formation of extra bones

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44
Q

Syndactyly

A

Fusion of two adjacent digits

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45
Q

HOXD13

A

Homeobox gene, mutations can cause an extra digit between 3rd and 4th fingers and syndactyly

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46
Q

FGFR3

A

Inhibits cartilage growth when activated by FGF3, mutations lead to constitutive activation causing achondroplasia

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47
Q

Achondroplasia

A

Caused by an autosomal dominant mutation in FGFR3, major cause of non-lethal dwarfism

48
Q

Thanatophoria

A

Caused by a mutation in FGFR3 that leads to new and abnormal function of the gene product, most common form of lethal dwarfism

49
Q

Acid hydrolases

A

Enzymes that normally degrade dermatan sulfate, heparan sulfate, and keratan sulfate… can cause mucopolysaccharidosis when decreased

50
Q

Glycosaminoglycans

A

Accumulate in connective tissue, neurons, and hepatocytes when a patient with mucopolysaccharidosis has decreased acid hydrolases to degrade them

51
Q

Elaprase

A

An enzyme given as treatment for mucopolysaccharidosis that can degrade some of the sulfates to halt the disease progression

52
Q

Carbonic anhydrase

A

An enzyme necessary for osteoclasts to generate protons to resorb bone… can cause the autosomal dominant form of osteopetrosis when deficient

53
Q

7-dehydrocholesterol

A

Synthesized in the skin when exposed to sunlight and is then converted to Vit D3 (cholecalciferol)

54
Q

25-hydroxyvitamin D

A

Formed when the liver conjugates cholecalciferol

55
Q

1,25-hydroxyvitamin D

A

Formed when the kidneys conjugate 25-hydroxyvitamin D

56
Q

Osteosclerosis

A

Increased bone density

57
Q

Pseudoarthrosis

A

A false joint that can form at the site of a fracture

58
Q

Cloaca

A

The hole formed in the bone during the formation of a draining sinus in a patient with osteomyelitis, can extend to the surface of the skin

59
Q

Sequestrum

A

Dead bone fragment embedded in pus in a patient with osteomyelitis

60
Q

Involucrum

A

New bone that forms a sheath around a necrotic sequestrum in a patient with osteomyelitis

61
Q

POTTS disease

A

TB of the bone

62
Q

SABRE shins

A

An anterior-bowing tibia due to tertiary syphilis

63
Q

Synovial joints

A

Freely moveable

64
Q

Synarthrosis

A

Joint with little or no movement

65
Q

Syndesmosis

A

Fibrous synarthrosis where the bones are connected by fibrous tissue without cartilage (ex: cranial sutures)

66
Q

Symphyses

A

Cartilaginous synarthrosis where the bones are joined by fibrocartilaginous tissue and firm ligaments (ex: vertebral bodies)

67
Q

Synchondrosis

A

Cartilaginous synarthrosis where bones are connected by articular cartilage without synovium (ex: 1st rib & sternum)

68
Q

Subintima

A

Outer layer of synovium cells

69
Q

Intima

A

Inner layer of synovium cells

70
Q

Type A synoviocytes

A

Macrophage-like with lysosomal enzymes

71
Q

Type B synoviocytes

A

Fibroblast-like, synthesize hyaluronic acid and proteins… expansion of these cells is a hallmark of RA

72
Q

Tidemark

A

Line that separates the radial from the calcified zone of hyaline cartilage… this is where cartilage cells regenerate and then migrate upward

73
Q

Osteophytes

A

Bony projections at the margins of articular surfaces covered with fibrocartilage and hyaline cartilage, formed during the progression of OA

74
Q

MMP

A

Matrix metalloproteinase, enzymes that break down interstitial collagen (types I, II, and III)

75
Q

ADAMTS-4

A

Enzyme that degrades aggrecan, which is a proteoglycan, contributing to the breakdown of cartilage in OA

76
Q

COL2A1

A

Gene for type II collagen that can be defective in people with primary OA

77
Q

Eburnation

A

Conversion of bone into hard ivory-like mass

78
Q

Joint mice

A

Pieces of cartilage and subchondral bone that become dislodged into the joint

79
Q

Heberden nodes

A

Osteophytes at distal interphalangeal joints

80
Q

HLA-DR4/1/10/14

A

Proteins that predispose people for RA

81
Q

Arginine

A

Present in great amounts in the DR epitope in people with seropositive RA, associated with a poor prognosis

82
Q

Lysine

A

Present in great amounts in the DR epitope in people with seronegative RA, associated with a good prognosis

83
Q

PTPN22

A

Tyrosine phosphatase, activates inflammatory cells, a genetic factor associated with RA

84
Q

CCP

A

Citrulline modified peptides, recognized by Abs that form against filaggrin (main epitope in CCP) in patients wtih RA

85
Q

Filaggrin

A

Main epitope recognized by anti-CCP Abs in patients with RA… these Abs cross-react with keratin and perinuclear factor

86
Q

RANA

A

RA-associated nuclear antigen, related to the nuclear antigen encoded by EBV… Abs form against RANA in patients with RA

87
Q

Pannus

A

Collection of various destructive cells accumulating on the joint surface in a patient with RA

88
Q

Ankylosis

A

Fibrous fusion of a joint

89
Q

Enthesitis

A

Inflammation of a point of attachment of skeletal muscle to bone, B27 positive, form of JIA

90
Q

Marie-Strumpell disease

A

Ankylosing spondylitis

91
Q

Reiter syndrome

A

Reactive arthritis, associated with IBD… triad of seronegative polyarthritis, uveitis/conjunctivitis, & nonspecific urethritis or cervicitis

92
Q

HLA-B27

A

Class I MHC associated with the spondyloarthropathies

93
Q

Monosodium urate

A

Crystals that deposit in joints of a patient with gout

94
Q

Tophi

A

Large aggregates of monosodium urate crystals that deposit in joints of a patient with gout

95
Q

Urate transporter 1

A

Gene responsible for renal filtration and excretion of uric acid… mutations can cause hyperuricemia and decreased uric acid excretion

96
Q

HGPRT

A

Hypoxanthine transferase, a gene involved in the salvage pathway of purine synthesis… mutated in a genetic form of gout, causes increased uric acid production

97
Q

Allopurinol

A

Medication that inhibits the action of xanthine oxidase to decrease the production of uric acid

98
Q

Probenecid

A

Medication that increases uric acid excretion

99
Q

Apo-E

A

Coats the monosodium urate crystals to inhibit responding cells from initiating an immune reaction in a patient with gout

100
Q

Lesch-Nyhan syndrome

A

Complete HGPRT deficiency resulting in an overproduction of uric acid with increased urinary excretion

101
Q

Trophus

A

Extracellular soft tissue deposits of urate crystals surrounded by foreign body giant cells (macrophages)

102
Q

Rat bite

A

X-ray finding describing punched out juxta-articular lytic lesions found in patients with gout

103
Q

Podagra

A

Painful reddened big toe, common finding in someone experiencing acute gouty arthritis

104
Q

Nidus

A

The uric acid center that first starts the formation of a kidney stone

105
Q

Calcium pyrophosphate

A

Crystals that deposit in joints or in surrounding soft tissue in patients with pseudo-gout

106
Q

Ochronosis

A

Blue/black discoloration of certain tissues due to the accumulation of homogentisic acid, which can lead to secondary pseudo-gout

107
Q

MDM2

A

Gene that regulates p53, amplified in some patients with osteoblastoma

108
Q

TP53

A

Gene that produces p53, deleted in some patients with osteoblastoma

109
Q

Li-Fraumeni

A

Syndrome with germline p53 mutation, greatly elevates the incidence of osteosarcoma

110
Q

INK4a

A

Gene that codes for p16 (cell cycle regulator) and p14 (aids p53 function), mutations can increase likelihood of developing osteosarcoma

111
Q

Codman triangle

A

Triangular shadow on X-ray between bony cortex and raised ends of periosteum

112
Q

EXT1/2

A

Genes that can be a hereditary cause of osteochondroma when mutated… may gain function or be inactivated by mutations

113
Q

Ollier disease

A

The presence of multiple enchondromas

114
Q

Maffucci syndrome

A

The presence of hemangiomas in a patient with a chondroma… these patients are at risk of developing other types of malignancies

115
Q

CDKN2A

A

Tumor suppressor gene on chromosome 9 that can lead to the development of a central chondrosarcoma when mutated

116
Q

PTHrP & Bcl-2

A

Genes that can lead to the development of a secondary peripheral chondrosarcoma when upregulated

From Flashcardlet (22 decks)

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